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	NSWES986-M	WT	HH	HZ	NC
chr1	17044783	17044783	T	C	exonic	SDHB	.	nonsynonymous SNV	SDHB:NM_003000:exon2:c.A178G:p.T60A	Cowden syndrome 2, Autosomal dominant;Gastrointestinal stromal tumor, Autosomal dominant, Isolated cases;Paraganglioma and gastric stromal sarcoma;Paragangliomas 4, Autosomal dominant;Pheochromocytoma, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	238187	Gastrointestinal_stromal_tumor|not_provided|Paragangliomas_4|Pheochromocytoma|SDHB-related_disorder|Carney-Stratakis_syndrome|Cowden_syndrome|Hereditary_cancer-predisposing_syndrome|not_specified|Hereditary_pheochromocytoma-paraganglioma	Human_Phenotype_Ontology:HP:0100723,MONDO:MONDO:0011719,MeSH:D046152,MedGen:C0238198,OMIM:606764,Orphanet:44890|MedGen:C3661900|MONDO:MONDO:0007273,MedGen:C1861848,OMIM:115310,Orphanet:29072|Human_Phenotype_Ontology:HP:0002666,MONDO:MONDO:0008233,MedGen:C0031511,OMIM:171300,Orphanet:29072|MedGen:CN239418|MONDO:MONDO:0011740,MedGen:C1847319,OMIM:606864,Orphanet:97286|MONDO:MONDO:0016063,MedGen:C0018553,OMIM:PS158350,Orphanet:201|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.845	0.342984829718	0.0002	.	7.414e-05	0	0	0	0	0.0001	0	0	6.47e-05	10	154602	rs34599281	9.988e-05	9.987e-05	9.938e-05	0.0001	0.0001	8.646e-05	8.134e-05	0.0001	9.768e-05	5.974e-05	0	0	0	0	0	0.0001	4.968e-05	6.956e-05	6.57e-05	6.567e-05	3.854e-05	9.412e-05	0.0003	3.516e-05	2.616e-05	0.0001	8.291e-05	0	0	0.0003	0	0	0	0	7.35e-05	0	0	0.023	0.48186	D	0.122	0.47581	T	0.001	0.07471	B	0.005	0.11217	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.685	0.78553	M	-5.16	0.98796	D	-2.12	0.48184	N	0.862	0.85872	0.936	0.96183	D	0.934	0.97826	D	10	0.67948496	0.71193	D	0.342985	0.92065	D	0.845	0.95175	.	.	0.983091551675	0.98290	0.6323818218709532	0.63172	0.173623914911	0.19547	0.53711026907	0.44037	T	0.784768	0.94350	D	0.222567	0.76019	D	0.307627	0.88546	D	0.233980460552231	0.22140	T	0.974802	0.91047	D	0.43043634	0.62780	0.33751005	0.59540	0.42033783	0.62115	0.3684294	0.62133	-9.051	0.68025	D	0.2740677902587844	0.36822	0.114	0.24733	B	.;.;.	.;.;.	3.784237	0.54430	23.5	0.99376413964294741	0.61671	0.97498	0.75138	D	AEFDBI	0.876760	0.80096	D	0.240035330793247	0.53149	3.485047	0.373105705437549	0.59912	4.173247	0.999999999991865	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.65	5.65	0.86881	7.242000	0.77660	7.833000	0.70197	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:0.0:1.0	14.843	0.69869	835	0.38313	Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding domain;Succinate dehydogenase/fumarate reductase N-terminal|2Fe-2S ferredoxin-type iron-sulfur binding domain|2Fe-2S ferredoxin-type iron-sulfur binding 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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1429	4693.26	34	chr1	17044783	.	T	C	4693.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.49;DP=577;ExcessHet=0.3476;FS=3.214;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.45;ReadPosRankSum=1.2;SOR=0.791	GT:AD:DP:GQ:PL	0/1:109,110:219:99:2382,0,2287	5	0	2	0
chr1	26067352	26067352	G	A	exonic	TRIM63	.	nonsynonymous SNV	TRIM63:NM_032588:exon1:c.C143T:p.A48V	.	437	1083	2	0	0	2	0.000922509	.	.	.	178468	Primary_familial_hypertrophic_cardiomyopathy|TRIM63-related_disorder|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949658,OMIM:PS192600,Orphanet:155|.|MedGen:C3661900|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.557	0.020277507675	0.0014	0.000399361	0.0013	0.0004	0.0010	0	0.0002	0.0018	0.0011	0.0009	0.0013325	206	154602	rs140523053	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0027	0.0027	0.0004	0.0012	7.653e-05	0	0.0002	0.0009	0.0028	0.0014	0.0009	0.0013	0.0013	0.0012	0.0013	0.0021	0.0011	0.0011	0.0019	0.0018	0.0004	0	0.0016	0	0	0	0	0.0021	0.0014	0.0010	0.0	0.91255	D	0.055	0.46862	T	0.998	0.73220	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.175	0.09039	N	2.4	0.15608	T	-3.9	0.72932	D	0.919	0.92200	-0.9396	0.42679	T	0.057	0.23828	T	10	0.29423878	0.46996	T	0.020278	0.42842	T	0.557	0.81774	.	.	0.748536116192	0.74626	0.6174915328106051	0.61681	0.688503199129	0.60440	0.758670628071	0.75732	T	0.344248	0.71279	T	-0.116384	0.33718	T	0.0592072	0.74192	D	0.071366982965435	0.08841	T	0.956054	0.83312	D	0.85715234	0.87870	0.83525866	0.90527	0.85715234	0.87871	0.83525866	0.90528	-11.749	0.83607	D	.	.	0.865	0.80602	P	.	.	5.400007	0.90430	31	0.99928911392718311	0.99279	0.99748	0.99172	D	AEFDBIJ	0.971041	0.99319	D	0.650068620593564	0.76371	6.474459	0.735087393430099	0.85041	8.463268	1.0	0.98316	0.549168	0.22868	0	0.563428	0.19063	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.67	5.67	0.87673	9.994000	0.99266	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.371	0.94478	731	0.54177	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1429	2583.23	38	chr1	26067352	.	G	A	2583.23	.	AC=2;AF=0.143;AN=14;DP=266;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=30.04;SOR=1.192	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2604,258,0	6	1	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9928.09	113	chr1	37708311	.	TTTC	T	9928.09	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.62;DP=623;ExcessHet=2.5225;FS=0.525;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=18.84;ReadPosRankSum=0.321;SOR=0.625	GT:AD:DP:GQ:PL	0/1:81,85:166:99:3325,0,3131	3	0	4	0
chr1	55038977	55038977	G	A	upstream	PCSK9	dist=571	.	.	Hypercholesterolemia, familial, 3	1383	64	4	71	0	146	0.532847	.	.	.	434132	Hypercholesterolemia,_autosomal_dominant,_3|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.601438	.	.	.	.	.	.	.	.	0.614454	15993	26028	rs2479409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6550	0.6548	0.6555	0.6544	0.7401	0.6515	0.6501	0.7332	0.7303	0.7401	0.7462	0.4896	0.6250	0.3408	0.7158	0.5850	0.6504	0.6293	0.7341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	125.24	1	chr1	55038977	.	G	A	125.24	.	AC=4;AF=0.5;AN=8;DP=9;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=25.05;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,3:3:9:89,9,0	2	2	0	3
chr1	55039978	55039978	C	T	exonic	PCSK9	.	synonymous SNV	PCSK9:NM_174936:exon1:c.C141T:p.S47S	Hypercholesterolemia, familial, 3	0	1447	73	2	0	77	0.0259172	.	.	YES	249983	Cardiovascular_phenotype|not_specified|Hypobetalipoproteinemia|Hypercholesterolemia,_familial,_1|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia|not_provided	MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0017774,MedGen:C0020597,Orphanet:31154|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0068	0.00399361	0.0207	0.0041	0.0429	0	0.0519	0.0263	0.028	0.0153	0.0080206	1240	154602	rs28385701	0.0093	0.0093	0.0091	0.0095	0.0323	0.0091	0.0091	0.0282	0.0266	0.0016	0.0102	0.0212	5.281e-05	0.0120	0.0323	0.0090	0.0104	0.0127	0.0083	0.0083	0.0079	0.0088	0.0134	0.0080	0.0078	0.0108	0.0100	0.0016	0.0022	0.0120	0.0210	0.0004	0.0129	0.0374	0.0102	0.0175	0.0134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.031504	0.047368	0.036685	0.043860	0.050000	0.017241	0.018634	0.019084	0.2857	3477.12	37	chr1	55039978	.	C	T	3477.12	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.19;DP=409;ExcessHet=2.5225;FS=0.883;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.132;SOR=0.627	GT:AD:DP:GQ:PL	0/1:50,46:96:99:1017,0,1013	3	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	22671.0	91	chr1	55057360	.	A	G	22671.0	.	AC=14;AF=1;AN=14;BaseQRankSum=2.03;DP=759;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=30.6;ReadPosRankSum=-0.989;SOR=0.243	GT:AD:DP:GQ:PL	1/1:0,128:128:99:4053,384,0	0	7	0	0
chr1	89054647	89054652	AAAAAC	-	intronic	GBP1	.	.	.	.	630	387	266	239	0	744	0.490119	.	.	.	1310281	Neutrophil_inclusion_bodies	Human_Phenotype_Ontology:HP:0001932,Human_Phenotype_Ontology:HP:0008264,MedGen:C4021547	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.4335	0.384984	0.4653	0.2752	0.3198	0.3797	0.6032	0.5117	0.4919	0.4927	0.0001921	5	26028	rs66614512	0.5009	0.4988	0.4991	0.5027	0.5162	0.4999	0.4995	0.5150	0.5146	0.2892	0.3353	0.4420	0.3415	0.6034	0.4709	0.5162	0.4810	0.5115	0.4382	0.4403	0.4351	0.4415	0.5215	0.4354	0.4343	0.5169	0.5151	0.2908	0.4658	0.3465	0.4346	0.3728	0.6123	0.5069	0.5215	0.4378	0.5102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	4958.07	18	chr1	89054646	.	GAAAAAC	G	4958.07	.	AC=8;AF=0.571;AN=14;BaseQRankSum=0.021;DP=212;ExcessHet=1.4958;FS=1.154;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=24.3;ReadPosRankSum=0.977;SOR=0.816	GT:AD:DP:GQ:PL	0/1:18,18:36:99:695,0,688	1	2	4	0
chr1	92478757	92478757	-	AGAGAGAGAG	intronic	GFI1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	281300	Neutropenia,_severe_congenital,_2,_autosomal_dominant|not_provided|GFI1-related_disorder|not_specified|Severe_congenital_neutropenia	MONDO:MONDO:0013139,MedGen:C2751288,OMIM:613107,Orphanet:486|MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0018542,MedGen:C1853118,OMIM:PS202700,Orphanet:42738	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004398	68	154602	rs371078453	0.0383	0.0466	0.0385	0.0382	0.0384	0.0381	0.0379	0.0381	0.0379	0.0280	0.0198	0.0545	0.0236	0.0686	0.0357	0.0384	0.0375	0.0355	0.0660	0.0711	0.0640	0.0681	0.0743	0.0648	0.0644	0.0725	0.0718	0.0426	0.1457	0.0415	0.1163	0.0581	0.1245	0.0551	0.0743	0.0632	0.0555	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2867.81	10	chr1	92478757	.	C	CAGAGAGAGAG	2867.81	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.551;DP=209;ExcessHet=0;FS=2.983;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=34.14;ReadPosRankSum=-0.674;SOR=2.049	GT:AD:DP:GQ:PL	0/1:0,4:19:99:571,389,397	4	0	2	1
chr1	100196432	100196436	AAAAA	-	intronic	DBT	.	.	.	Maple syrup urine disease, type II, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265476	not_specified|Maple_syrup_urine_disease	MedGen:CN169374|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0151	0.0066	0.0042	0.0164	0.0059	0.0154	0.0085	0.0369	0.0001153	3	26028	rs754946346	0.2509	0.2144	0.2509	0.2508	0.2606	0.2498	0.2493	0.2593	0.2588	0.1819	0.1956	0.2418	0.2549	0.2214	0.2604	0.2606	0.2479	0.2067	0.4488	0.4676	0.4467	0.4515	0.5509	0.4449	0.4433	0.5225	0.5111	0.3944	0.4656	0.5092	0.4787	0.4831	0.4988	0.5319	0.4530	0.4726	0.5509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	463.88	2	chr1	100196431	.	GAAAAA	G	463.88	.	AC=3;AF=0.3;AN=10;BaseQRankSum=0.674;DP=110;ExcessHet=0;FS=11.139;MLEAC=3;MLEAF=0.3;MQ=60;MQRankSum=0;QD=30.93;ReadPosRankSum=-0.319;SOR=3.897	GT:AD:DP:GQ:PL	1/0:0,3:6:92:223,108,92	3	1	1	2
chr1	158618068	158618068	G	A	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	3	913	508	98	0	704	0.278261	0.0005	0.264	YES	249428	Hemolytic_anemia|not_specified|Hereditary_spherocytosis_type_3|not_provided|Elliptocytosis_2|Pyropoikilocytosis,_hereditary	Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:C3661900|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.2491	0.227835	0.2564	0.1998	0.1610	0.1912	0.3018	0.2874	0.2617	0.2473	0.255081	39436	154602	rs28525570	0.2712	0.2729	0.2704	0.2720	0.2797	0.2705	0.2702	0.2788	0.2785	0.1970	0.1760	0.3492	0.2025	0.2895	0.2419	0.2797	0.2632	0.2453	0.2538	0.2539	0.2524	0.2553	0.2882	0.2517	0.2508	0.2848	0.2834	0.1983	0.2286	0.2184	0.3417	0.1855	0.3091	0.3265	0.2882	0.2640	0.2447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1001.1	40	chr1	158618068	.	G	A	1001.1	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.269;DP=269;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=-0.437;SOR=0.593	GT:AD:DP:GQ:PL	0/1:31,37:68:99:930,0,769	5	1	1	0
chr1	158627717	158627717	G	C	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon40:c.C5572G:p.L1858V	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	5	902	520	95	0	710	0.282418	.	.	YES	249434	not_specified|Hereditary_spherocytosis_type_3|Pyropoikilocytosis,_hereditary|Elliptocytosis_2|Hemolytic_anemia|not_provided	MedGen:CN169374|MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0001878,Human_Phenotype_Ontology:HP:0001910,Human_Phenotype_Ontology:HP:0004827,Human_Phenotype_Ontology:HP:0004853,Human_Phenotype_Ontology:HP:0004868,Human_Phenotype_Ontology:HP:0005503,MONDO:MONDO:0003664,MedGen:C0002878|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.176	.	0.2495	0.227835	0.2567	0.2000	0.1610	0.1910	0.3021	0.2878	0.2617	0.2475	0.255042	39430	154602	rs3737515	0.2731	0.2734	0.2725	0.2737	0.2819	0.2723	0.2721	0.2810	0.2807	0.1983	0.1760	0.3506	0.2028	0.2894	0.2433	0.2819	0.2648	0.2460	0.2536	0.2539	0.2523	0.2550	0.2882	0.2515	0.2506	0.2848	0.2834	0.1981	0.2286	0.2176	0.3430	0.1851	0.3087	0.3207	0.2882	0.2621	0.2442	0.009	0.57480	D	0.019	0.59159	D	0.601	0.39346	P	0.395	0.44317	B	0.295829	0.14686	N	0.398187	0.0322052	0.38617	P	2.66	0.77858	M	0.82	0.48142	T	-2.39	0.52612	N	0.242	0.27316	-1.0044	0.28636	T	0.100	0.37162	T	9	0.0018082857	0.00024	T	.	.	.	0.176	0.44373	.	.	.	.	0.10204742782828059	0.10134	0.151848470416	0.17138	0.413743078709	0.26975	T	0.398082	0.75628	T	-0.578861	0.00196	T	-0.46045	0.26549	T	0.0265270473936109	0.01477	T	0.989945	0.96848	D	0.47455317	0.65569	0.45098418	0.68054	0.5292539	0.68789	0.3938572	0.64094	-7.424	0.57073	T	0.4696991537525536	0.55038	0.119	0.24430	B	.;.	.;.	2.721452	0.35600	19.94	0.99057226967889789	0.51390	0.97183	0.73178	D	AEFBI	0.628036	0.61027	D	-0.0876209270705267	0.37935	2.214285	-0.10368608914381	0.35242	2.036537	0.00115487049960551	0.08283	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.55	2.68	0.30839	2.724000	0.46956	1.029000	0.23465	-0.106000	0.15538	1.000000	0.71638	0.238000	0.23831	0.191000	0.21631	0.2184:0.0:0.7816:0.0	10.249	0.42538	645	0.63593	.;.	CD1B	Whole_Blood	SPTA1|SPTA1	Testis|Whole_Blood	rs3737515	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.251259	0.282828	0.233696	0.292398	0.200000	0.250000	0.210366	0.265152	0.2143	1354.65	33	chr1	158627717	.	G	C	1354.65	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.942;DP=281;ExcessHet=0;FS=1.707;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=1.19;SOR=0.524	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1197,0,1181	5	1	1	0
chr1	158642966	158642966	G	A	exonic	SPTA1	.	nonsynonymous SNV	SPTA1:NM_003126:exon32:c.C4453T:p.L1485F	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	2	1470	47	3	0	53	0.017708	.	.	.	249443	Hereditary_spherocytosis_type_3|not_specified|Elliptocytosis_2|Pyropoikilocytosis,_hereditary|not_provided	MONDO:MONDO:0010053,MedGen:C2678338,OMIM:270970,Orphanet:822|MedGen:CN169374|MONDO:MONDO:0007533,MedGen:C1851741,OMIM:130600,Orphanet:288|Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.526	.	0.0182	0.0135783	0.0195	0.0047	0.0128	0	0.0166	0.0240	0.0223	0.0261	0.0196116	3032	154602	rs34973695	0.0239	0.0239	0.0236	0.0243	0.0280	0.0237	0.0236	0.0270	0.0266	0.0029	0.0142	0.0340	0.0001	0.0128	0.0094	0.0260	0.0219	0.0280	0.0176	0.0176	0.0181	0.0171	0.0281	0.0170	0.0168	0.0258	0.0253	0.0043	0.0011	0.0145	0.0406	0.0010	0.0126	0.0238	0.0268	0.0156	0.0281	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.013169	0.28928	N	0.000000	0.999998	0.58761	D	3.555	0.93317	H	-0.6	0.71662	T	-3.55	0.68764	D	0.423	0.46274	0.232	0.86443	D	0.570	0.84449	D	10	0.009739518	0.00219	T	.	.	.	0.526	0.79947	.	.	.	.	0.3032044811607153	0.30233	0.229804232029	0.25532	0.48476588726	0.36714	T	0.534209	0.83935	D	-0.298793	0.08775	T	-0.181022	0.56429	T	0.0528499797072552	0.05994	T	0.956104	0.83363	D	0.5907191	0.72190	0.6780664	0.81090	0.59269214	0.72297	0.6780664	0.81091	-7.059	0.54464	T	0.6834547381841589	0.76015	0.352	0.56677	A	.;.	.;.	4.011907	0.59186	24.1	0.99882779866357774	0.95892	0.95961	0.66907	D	AEFBI	0.791310	0.71994	D	0.808080829851372	0.86611	8.940595	0.723698483346823	0.84177	8.220227	0.999999944129698	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.2	5.2	0.71720	4.612000	0.60873	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.485	0.87579	607	0.67291	.;.	.	.	.	.	rs34973695	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	0.011880	0.000000	0.009563	0.011765	0.000000	0.000000	0.003145	0.031008	0.07143	1021.45	35	chr1	158642966	.	G	A	1021.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.145;DP=259;ExcessHet=0;FS=3.272;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.59;SOR=1.154	GT:AD:DP:GQ:PL	0/1:32,41:73:99:1032,0,739	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2827.55	24	chr1	158668075	.	GAAA	G	2827.55	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.331;DP=284;ExcessHet=0.4813;FS=2.929;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.299;SOR=0.995	GT:AD:DP:GQ:PL	1/0:2,19:33:99:917,176,295	5	0	2	0
chr1	158668076	158668076	A	-	intronic	SPTA1	.	.	.	Elliptocytosis-2, Autosomal dominant;Pyropoikilocytosis, Autosomal recessive;Spherocytosis, type 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	277732	Pyropoikilocytosis,_hereditary|not_provided|Spherocytosis,_Recessive|Elliptocytosis	Human_Phenotype_Ontology:HP:0004805,Human_Phenotype_Ontology:HP:0004839,MONDO:MONDO:0009948,MedGen:C0520739,OMIM:266140,Orphanet:98867|MedGen:C3661900|MedGen:CN239472|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.295927	0.2594	0.3676	0.2026	0.2423	0.2213	0.2473	0.2422	0.3088	0.0001153	3	26028	rs5778087	0.2240	0.2318	0.2228	0.2252	0.3653	0.2233	0.2230	0.3595	0.3571	0.3653	0.1704	0.2138	0.2344	0.1747	0.2460	0.2196	0.2324	0.2731	0.2818	0.2831	0.2829	0.2807	0.4731	0.2795	0.2785	0.4673	0.4649	0.4731	0.0657	0.1879	0.2095	0.2214	0.1760	0.2259	0.2103	0.2655	0.2866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2827.55	24	chr1	158668075	.	GA	G	2827.55	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.331;DP=284;ExcessHet=0.4813;FS=2.929;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=15.62;ReadPosRankSum=0.299;SOR=0.995	GT:AD:DP:GQ:PL	0/1:2,9:33:99:917,584,545	2	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1357.38	19	chr1	161214269	.	C	CTG	1357.38	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.115;DP=225;ExcessHet=4.7409;FS=1.375;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.401;SOR=1.15	GT:AD:DP:GQ:PL	0/1:17,13:30:99:319,0,439	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	2264.25	31	chr1	168293284	.	A	AGT	2264.25	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.304;DP=429;ExcessHet=1.4958;FS=25.24;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=1.55;SOR=2.143	GT:AD:DP:GQ:PL	0/1:14,11:26:99:221,0,325	3	0	4	0
chr1	169529737	169529737	T	C	exonic	F5	.	nonsynonymous SNV	F5:NM_000130:exon16:c.A5290G:p.M1764V	Factor V deficiency, Autosomal recessive;Thrombophilia due to activated protein C resistance, Autosomal dominant	1	683	630	208	0	1046	0.433665	.	.	.	249501	Congenital_factor_V_deficiency|Thrombophilia_due_to_activated_protein_C_resistance|not_specified|not_provided	MONDO:MONDO:0009210,MedGen:C0015499,OMIM:227400,Orphanet:326|MONDO:MONDO:0008560,MedGen:C1861171,OMIM:188055|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.230	.	0.2894	0.308706	0.3351	0.1905	0.5327	0.2606	0.2965	0.3211	0.3469	0.3980	0.331005	51174	154602	rs6030	0.3320	0.3320	0.3303	0.3337	0.5036	0.3312	0.3309	0.4981	0.4958	0.1908	0.5036	0.2433	0.2974	0.2961	0.3432	0.3294	0.3217	0.4015	0.2994	0.2996	0.2954	0.3036	0.4414	0.2971	0.2962	0.4325	0.4289	0.1962	0.1919	0.4414	0.2414	0.2702	0.2903	0.3129	0.3306	0.3275	0.4006	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.799742	0.09333	N	0.908379	1	0.08975	P	-1.195	0.00846	N	-5.02	0.98562	D	0.77	0.01949	N	0.006	0.00044	-0.4336	0.70946	T	0.433	0.77400	T	9	0.00013938546	0.00010	T	.	.	.	0.230	0.53062	.	.	.	.	0.5774194888175482	0.57670	0.0874476088007	0.09862	0.202470511198	0.00532	T	0.012008	0.10625	T	-0.558879	0.00258	T	-0.431747	0.29737	T	0.00389668243981471	0.00041	T	0.0319468	0.00204	T	0.10963965	0.25921	0.15528889	0.36408	0.11500659	0.27143	0.10465255	0.25139	-1.936	0.02949	T	0.0630923633968402	0.01915	0.051	0.00195	B	.;.	.;.	-1.215408	0.00515	0.012	0.69920481567361925	0.09127	0.03239	0.08258	N	AEFGBCIJ	0.145810	0.26911	N	-1.46881193792389	0.02073	0.09117123	-1.39284912778787	0.03328	0.1549985	0.999997398089242	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.172119	0.04147	3	0.564101	0.26826	0	.	.	5.32	-2.86	0.05376	-2.274000	0.01245	-8.462000	0.00965	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.992000	0.67800	0.0923:0.1961:0.2724:0.4392	3.252	0.06416	772	0.48957	.;.	ATP1B1	Testis	.	.	rs6030	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.324270	0.373737	0.269022	0.406433	0.250000	0.370690	0.277439	0.352273	0.7143	9095.72	82	chr1	169529737	.	T	C	9095.72	.	AC=10;AF=0.714;AN=14;BaseQRankSum=0.301;DP=577;ExcessHet=2.5225;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=16.04;ReadPosRankSum=0.548;SOR=0.669	GT:AD:DP:GQ:PL	1/1:0,111:111:99:3282,333,0	0	3	4	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	.	.	.	.	.	.	.	.	0.8333	7426.47	40	chr1	179889309	.	G	A	7426.47	.	AC=10;AF=0.833;AN=12;BaseQRankSum=0.594;DP=331;ExcessHet=0.4139;FS=1.128;MLEAC=11;MLEAF=0.917;MQ=60;MQRankSum=0;QD=22.85;ReadPosRankSum=1.24;SOR=0.798	GT:AD:DP:GQ:PL	1/1:0,70:70:99:2124,210,0	0	4	2	1
chr1	183563425	183563425	G	A	intronic	NCF2	.	.	.	Chronic granulomatous disease due to deficiency of NCF-2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	493535	not_provided|Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_2	MedGen:C3661900|MONDO:MONDO:0009310,MedGen:C1856245,OMIM:233710,Orphanet:379	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0001	0.0012	0	0	0	1.499e-05	0	0	9.7e-05	15	154602	rs368136871	1.505e-05	1.505e-05	1.225e-05	1.788e-05	0.0004	9.85e-06	8.41e-06	0.0003	0.0002	0.0004	2.236e-05	0	0	0	0.0002	8.993e-07	8.279e-05	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0005	0.0004	0.0007	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	6254.45	35	chr1	183563425	.	G	A	6254.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.6;DP=685;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.536;SOR=0.683	GT:AD:DP:GQ:PL	0/1:238,258:496:99:6265,0,5876	6	0	1	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	0.6429	12773.1	34	chr1	196690107	.	C	T	12773.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=0;DP=576;ExcessHet=0.4813;FS=0.727;MLEAC=9;MLEAF=0.643;MQ=59.98;MQRankSum=0;QD=24.15;ReadPosRankSum=0.71;SOR=0.558	GT:AD:DP:GQ:PL	1/1:0,100:100:99:3156,300,0	1	3	3	0
chr1	197090947	197090947	T	G	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon22:c.A4784C:p.Q1595P,ASPM:NM_018136:exon23:c.A9539C:p.Q3180P	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	1	1509	11	1	0	13	0.00428901	.	.	.	34480	Microcephaly_5,_primary,_autosomal_recessive|not_provided|not_specified	MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.282	.	7.7e-05	0.0113818	0.0050	0	0.0005	0	0	1.502e-05	0.0011	0.0365	0.0044501	688	154602	rs193251130	0.0023	0.0023	0.0013	0.0033	0.0359	0.0022	0.0022	0.0348	0.0344	0.0001	0.0004	3.829e-05	0.0001	0	0.0017	5.218e-05	0.0024	0.0359	0.0013	0.0013	0.0007	0.0019	0.0377	0.0011	0.0011	0.0333	0.0315	0.0001	0	0.0001	0	0	0	0	7.353e-05	0.0009	0.0377	0.065	0.50132	T	0.032	0.72224	D	0.989	0.62824	D	0.885	0.62825	P	0.013255	0.28902	N	0.266702	1.20995e-10	0.08975	A	2.52	0.73523	M	0.26	0.59314	T	-2.98	0.71276	D	0.494	0.57263	-0.4301	0.71064	T	0.288	0.65958	T	9	0.032000035	0.01343	T	.	.	.	0.282	0.59981	.	.	0.477917065107	0.47419	0.366185907918656	0.36532	.	.	0.23918569088	0.02718	T	0.413237	0.76716	T	-0.184656	0.23047	T	-0.0108623	0.69627	D	0.0414177480070669	0.03949	T	0.792521	0.45757	T	0.3373604	0.56069	0.37748984	0.62848	0.34863216	0.56960	0.4231333	0.66193	-8.767	0.66185	D	.	.	0.241	0.47513	B	.;.;.	.;.;.	2.732123	0.35768	19.98	0.99407790188364209	0.63122	0.34432	0.25066	N	AEFBI	0.323304	0.42553	N	-0.180647961897867	0.33940	1.931432	-0.352870896266355	0.26421	1.459215	0.00454900683188445	0.10609	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.93	2.61	0.30255	0.150000	0.16082	-2.409000	0.03790	0.609000	0.47794	0.003000	0.16062	0.000000	0.08366	0.954000	0.50415	0.0:0.2438:0.0:0.7562	8.105	0.30042	184	0.92813	IQ motif, EF-hand binding site;.;IQ motif, EF-hand binding site	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.022727	0.07143	746.44	36	chr1	197090947	.	T	G	746.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.342;DP=305;ExcessHet=0;FS=0.722;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=6.43;ReadPosRankSum=0.76;SOR=0.603	GT:AD:DP:GQ:PL	0/1:75,41:116:99:757,0,1719	6	0	1	0
chr1	226735804	226735804	G	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.C1655A:p.P552Q	.	440	2	22	1058	0	2138	0.998133	.	.	YES	1704217	ITPKB-related_disorder|Myeloproliferative_neoplasm,_unclassifiable|not_specified	.|MONDO:MONDO:0019452,MedGen:C1333046,Orphanet:86830|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.9588	0.979832	0.9646	0.9919	0.9793	0.9999	0.9525	0.9481	0.9635	0.9907	0.950441	146940	154602	rs708776	0.9491	0.9488	0.9480	0.9501	0.9999	0.9477	0.9472	0.9917	0.9883	0.9918	0.9738	0.9832	0.9999	0.9563	0.9941	0.9399	0.9566	0.9912	0.9610	0.9609	0.9589	0.9632	1.0000	0.9568	0.9551	0.9808	0.9775	0.9888	0.9791	0.9590	0.9856	1.0000	0.9591	0.9830	0.9379	0.9579	0.9934	0.583	0.05936	T	0.577	0.08594	T	0.0	0.02946	B	0.0	0.01387	B	0.483806	0.12135	N	0.766226	1	0.08975	P	-0.895	0.01383	N	1.98	0.22881	T	0.53	0.02808	N	0.025	0.01825	-1.0115	0.26447	T	0.000	0.00011	T	9	6.0402823e-07	0.00003	T	.	.	.	0.010	0.01040	.	.	.	.	0.05634089622938886	0.05575	0.181346590271	0.20389	0.286521404982	0.08417	T	0.020834	0.16329	T	-0.744246	0.00019	T	-0.797813	0.01958	T	0.0023018944148633	0.00024	T	0.138286	0.01102	T	0.040331684	0.05739	0.040422957	0.04366	0.040331684	0.05738	0.040422957	0.04365	-3.679	0.19008	T	.	.	0.063	0.01449	B	.;.;.	.;.;.	0.350619	0.07236	3.835	0.45452285692317235	0.03568	0.01207	0.04296	N	AEFDBCI	0.022870	0.01199	N	-1.52879093395045	0.01663	0.07273724	-1.51037584413497	0.02264	0.103852	0.999997929485498	0.74766	0.676563	0.55306	0	0.672317	0.65289	0	0.673471	0.61138	0	0.635551	0.53088	0	.	.	5.54	-4.95	0.02821	-0.492000	0.06547	-0.150000	0.11428	-0.165000	0.11486	0.003000	0.16062	0.000000	0.08366	0.771000	0.36558	0.1705:0.3482:0.2975:0.1839	2.079	0.03410	845	0.36510	.;.;.	PSEN2	Cells_Cultured_fibroblasts	PSEN2|PSEN2	Adipose_Subcutaneous|Skin_Not_Sun_Exposed_Suprapubic	rs708776	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	1.0	16397.3	67	chr1	226735804	.	G	T	16397.3	.	AC=12;AF=1;AN=12;DP=535;ExcessHet=0;FS=0;MLEAC=13;MLEAF=1;MQ=60;QD=31.35;SOR=0.818	GT:AD:DP:GQ:PL	1/1:0,83:83:99:2582,249,0	0	6	0	1
chr1	235866885	235866885	C	G	UTR5	LYST	NM_000081:c.-36468G>C	.	.	Chediak-Higashi syndrome, Autosomal recessive	826	686	6	4	0	14	0.010101	.	.	.	279999	Chédiak-Higashi_syndrome|not_provided	MONDO:MONDO:0008963,MedGen:C0007965,OMIM:214500,Orphanet:167|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00159744	.	.	.	.	.	.	.	.	0.00146	38	26028	rs544018977	0.0106	0.0005	0.0157	0.0078	0.0200	0.0071	0.0060	0.0127	0.0104	0	0	0.0833	0	0	0	0.0031	0	0.0200	0.0042	0.0042	0.0032	0.0052	0.0123	0.0039	0.0038	0.0098	0.0089	0.0003	0	0.0020	0.0173	0.0002	0.0255	0.0240	0.0027	0.0062	0.0123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	31.9	.	chr1	235866885	.	C	G	31.9	.	AC=1;AF=0.1;AN=10;BaseQRankSum=-0.967;DP=15;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:31:40,0,31	4	0	1	2
chr1	236897646	236897646	T	-	UTR3	MTR	NM_001291939:c.*2delT;NM_001291940:c.*2delT;NM_000254:c.*2delT	.	.	Homocystinuria-megaloblastic anemia, cblG complementation type, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	280140	not_provided|Disorders_of_Intracellular_Cobalamin_Metabolism|Methylcobalamin_deficiency_type_cblG	MedGen:C3661900|MedGen:CN043592|MONDO:MONDO:0009609,MedGen:C1855128,OMIM:250940,Orphanet:2170,Orphanet:622	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4672	0.4552	0.4682	0.4587	0.4842	0.4676	0.4685	0.4694	0.0002305	6	26028	rs1465411776	0.3806	0.3887	0.3757	0.3855	0.4140	0.3796	0.3792	0.4099	0.4083	0.3737	0.4057	0.3960	0.4064	0.4060	0.3404	0.3749	0.3825	0.4140	0.1799	0.1808	0.1804	0.1794	0.1962	0.1780	0.1773	0.1924	0.1908	0.1961	0.1859	0.1366	0.1658	0.0825	0.1872	0.1187	0.1867	0.1519	0.1962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1128.82	37	chr1	236897645	.	CT	C	1128.82	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.348;DP=396;ExcessHet=8.2628;FS=5.329;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=4.99;ReadPosRankSum=-0.341;SOR=0.449	GT:AD:DP:GQ:PL	0/1:22,24:52:99:490,0,453	1	0	6	0
chr1	237833281	237833281	-	A	UTR3	RYR2	NM_001035:c.*634_*635insA	.	.	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	1408	66	5	15	28	63	0.209581	.	.	.	280387	not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia|Arrhythmogenic_right_ventricular_cardiomyopathy	MedGen:C3661900|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs377407067	0.2755	0.0041	0.2917	0.2703	.	0.1945	0.1673	.	.	.	.	.	.	0.2812	.	.	0	.	0.4582	0.4444	0.4668	0.4482	0.5296	0.4549	0.4535	0.5246	0.5225	0.3777	0.5124	0.3661	0.6708	0.0836	0.4726	0.6667	0.5296	0.4907	0.3968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	718.54	11	chr1	237833281	.	G	GA	718.54	.	AC=3;AF=0.25;AN=12;DP=81;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;QD=23.95;SOR=2.621	GT:AD:DP:GQ:PL	1/1:0,10:10:30:248,30,0	4	1	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	2796.86	17	chr1	241500602	.	T	TGAGA	2796.86	.	AC=5;AF=0.625;AN=8;BaseQRankSum=-0.614;DP=195;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.75;MQ=60;MQRankSum=0;QD=22.81;ReadPosRankSum=1.59;SOR=1.375	GT:AD:DP:GQ:PL	1/0:1,13:23:99:880,207,179	0	1	3	3
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	2796.86	17	chr1	241500602	.	T	TGAGAGA	2796.86	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.614;DP=195;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=22.81;ReadPosRankSum=1.59;SOR=1.375	GT:AD:DP:GQ:PL	0/1:1,9:23:99:880,319,309	1	0	3	3
chr2	1477106	1477106	G	A	exonic	TPO	.	synonymous SNV	TPO:NM_175721:exon7:c.G840A:p.P280P,TPO:NM_000547:exon8:c.G840A:p.P280P,TPO:NM_001206744:exon8:c.G840A:p.P280P,TPO:NM_001206745:exon8:c.G840A:p.P280P,TPO:NM_175719:exon8:c.G840A:p.P280P	Thyroid dyshormonogenesis 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	284528	not_provided|Deficiency_of_iodide_peroxidase	MedGen:C3661900|MONDO:MONDO:0010133,MedGen:C1291299,OMIM:274500,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0010	0.000399361	0.0015	0.0003	0.0002	0	0.0042	0.0022	0.0015	0	0.0011578	179	154602	rs187974063	0.0015	0.0016	0.0015	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0003	0.0005	2.526e-05	0.0035	0.0009	0.0018	0.0012	3.494e-05	0.0014	0.0014	0.0013	0.0014	0.0022	0.0012	0.0011	0.0019	0.0018	0.0003	0	0.0009	0.0003	0	0.0024	0.0034	0.0022	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001009	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	965.63	34	chr2	1477106	.	G	A	965.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.51;DP=250;ExcessHet=0;FS=0.942;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.432;SOR=0.545	GT:AD:DP:GQ:PL	0/1:35,34:69:99:976,0,788	6	0	1	0
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1501	19	1	0	21	0.00694674	.	.	YES	366335	Hypercholesterolemia,_autosomal_dominant,_type_B|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_specified|not_provided|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	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	0.009567	0.010101	0.014946	0.011696	0.000000	0.000000	0.006098	0.003788	0.1429	3150.24	41	chr2	21003040	.	C	T	3150.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.73;DP=445;ExcessHet=0.3476;FS=0.451;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.93;ReadPosRankSum=0.865;SOR=0.66	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1691,0,1528	5	0	2	0
chr2	21006737	21006737	C	T	exonic	APOB	.	synonymous SNV	APOB:NM_000384:exon26:c.G10131A:p.L3377L	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	1	1501	19	1	0	21	0.00694674	.	.	.	260633	Hypercholesterolemia,_autosomal_dominant,_type_B|Cardiovascular_phenotype|Hypercholesterolemia,_familial,_1|Familial_hypobetalipoproteinemia_1|not_provided|Familial_hypercholesterolemia|not_specified	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN230736|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MedGen:C3661900|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0066	0.00339457	0.0061	0.0009	0.0055	0	0.0064	0.0077	0.0143	0.0058	0.0058667	907	154602	rs1799812	0.0071	0.0071	0.0071	0.0071	0.0095	0.0070	0.0070	0.0079	0.0078	0.0016	0.0041	0.0007	2.519e-05	0.0054	0.0095	0.0080	0.0074	0.0054	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0084	0.0015	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.010574	0.010101	0.017663	0.011696	0.000000	0.000000	0.006098	0.003788	0.1429	15429.2	36	chr2	21006737	.	C	T	15429.2	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.604;DP=1562;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.718;SOR=0.708	GT:AD:DP:GQ:PL	0/1:345,344:689:99:8590,0,9051	5	0	2	0
chr2	44320435	44320435	G	A	exonic	SLC3A1	.	nonsynonymous SNV	SLC3A1:NM_000341:exon10:c.G1854A:p.M618I	Cystinuria, Autosomal recessive, Autosomal dominant	1	171	630	720	0	2070	0.858209	.	.	YES	286486	not_provided|Cystinuria	MedGen:C3661900|Human_Phenotype_Ontology:HP:0003131,MONDO:MONDO:0009067,MedGen:C0010691,OMIM:220100,Orphanet:214	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	.	0.5449	0.460863	0.5960	0.2701	0.4998	0.3221	0.5958	0.6811	0.6013	0.6676	0.0001153	3	26028	rs698761	0.6599	0.6598	0.6581	0.6617	0.6922	0.6588	0.6583	0.6909	0.6904	0.2617	0.5192	0.6836	0.3574	0.5978	0.6804	0.6922	0.6241	0.6645	0.5342	0.5341	0.5388	0.5294	0.6780	0.5311	0.5299	0.6728	0.6707	0.2722	0.7697	0.5563	0.6862	0.3140	0.5823	0.6327	0.6780	0.5629	0.6495	0.337	0.13306	T	0.352	0.28764	T	0.001	0.07471	B	0.001	0.04355	B	0.120443	0.19034	N	0.561087	1	0.08975	P	0.77	0.19370	N	-5.33	0.98998	D	-0.38	0.14588	N	0.042	0.01577	-0.9028	0.47694	T	0.000	0.00011	T	9	3.6894764e-06	0.00003	T	.	.	.	0.154	0.40340	0.151	0.05441	.	.	0.49672446305566087	0.49593	0.00618125622596	0.00540	0.297892659903	0.10088	T	0.176151	0.52600	T	-0.514041	0.00476	T	-0.367341	0.37200	T	0.00255737995911959	0.00027	T	0.417558	0.11011	T	0.097282335	0.22928	0.0528911	0.08804	0.09387819	0.22060	0.044934988	0.05931	-5.288	0.41765	T	0.11960640390682445	0.11161	0.166	0.37858	B	.;.;.	.;.;.	0.347116	0.07205	3.796	0.66076431619722875	0.07954	0.23409	0.22066	N	AEFBHCI	0.149797	0.27396	N	-1.23159964899708	0.04548	0.2054851	-1.24033372092097	0.05276	0.2509822	0.0036214405344024	0.10207	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	-1.37	0.08582	-0.144000	0.10263	0.229000	0.16167	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.272000	0.23818	0.3431:0.3168:0.233:0.1071	2.100	0.03455	845	0.36510	.;.;.	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PPM1B	Adrenal_Gland|Artery_Aorta|Artery_Tibial|Brain_Cerebellum|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Muscle_Skeletal	PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL|PREPL	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Pancreas|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	rs698761	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.646632	0.560606	0.637228	0.608392	0.700000	0.698276	0.698171	0.674242	0.6429	11556.1	88	chr2	44320435	.	G	A	11556.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-1.757;DP=573;ExcessHet=0.4813;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=22.44;ReadPosRankSum=0.134;SOR=0.726	GT:AD:DP:GQ:PL	0/1:42,61:103:99:1661,0,1247	1	3	3	0
chr2	108930148	108930148	G	A	exonic	EDAR	.	nonsynonymous SNV	EDAR:NM_022336:exon3:c.C146T:p.P49L	Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, Autosomal dominant;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	283532	Hypohidrotic_Ectodermal_Dysplasia,_Dominant|Hypohidrotic_ectodermal_dysplasia|Ectodermal_dysplasia_10A,_hypohidrotic/hair/nail_type,_autosomal_dominant|Autosomal_recessive_hypohidrotic_ectodermal_dysplasia_syndrome|Inborn_genetic_diseases	MedGen:CN239335|Human_Phenotype_Ontology:HP:0007607,MONDO:MONDO:0016535,MedGen:C5848103,Orphanet:238468|MONDO:MONDO:0007509,MedGen:C3888065,OMIM:129490,Orphanet:1810,Orphanet:238468|MONDO:MONDO:0016619,MedGen:C0406702,Orphanet:248|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.197	0.0442806559777	.	.	0.0001	0	0.0003	0	0	0.0001	0	0.0002	0.00011	17	154602	rs375891208	6.294e-05	6.293e-05	6.263e-05	6.326e-05	0.0005	5.229e-05	4.846e-05	0.0002	0.0002	2.987e-05	0.0004	0	5.039e-05	0	0.0005	5.306e-05	6.624e-05	6.957e-05	7.223e-05	7.218e-05	2.57e-05	0.0001	0.0003	3.969e-05	3.126e-05	8.87e-05	5.281e-05	0	0	0.0003	0	0	0	0	8.821e-05	0	0.0002	0.19	0.21968	T	0.066	0.44501	T	0.133	0.27236	B	0.01	0.14941	B	0.020439	0.27041	N	0.433012	0.783617	0.34298	D	1.245	0.31408	L	-2.59	0.89822	D	-1.79	0.42763	N	0.265	0.30004	-0.6470	0.62844	T	0.347	0.71202	T	10	0.11164886	0.20915	T	0.044281	0.61412	D	0.197	0.47942	0.373	0.38503	0.505701759113	0.50209	0.29420522030721913	0.29333	0.326267788462	0.34779	0.270898252726	0.06258	T	0.37338	0.73739	T	-0.271037	0.11640	T	-0.310946	0.43557	T	0.0330540897336863	0.02480	T	0.759024	0.38847	T	0.02285743	0.00979	0.04673981	0.06580	0.02285743	0.00979	0.04673981	0.06580	-7.782	0.59574	D	0.1498428535926259	0.17555	0.068	0.03887	B	.;.;.	.;.;.	0.913816	0.12881	9.395	0.70123719856671696	0.09193	0.68014	0.33644	D	AEFDBI	0.094344	0.19078	N	-1.16796906238968	0.05490	0.2504367	-1.12475425759214	0.07229	0.3508672	0.117364334611903	0.16799	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	-0.795	0.10364	1.885000	0.39312	1.598000	0.27567	-1.009000	0.01772	1.000000	0.71638	1.000000	0.68203	0.125000	0.19370	0.0885:0.0:0.4255:0.4861	10.322	0.42955	830	0.39242	.;Tumor necrosis factor receptor EDAR, N-terminal;.	.	.	.	.	.	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	0.000505	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.07143	1615.44	33	chr2	108930148	.	G	A	1615.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.14;DP=307;ExcessHet=0;FS=5.584;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.675;SOR=1.213	GT:AD:DP:GQ:PL	0/1:60,64:124:99:1626,0,1255	6	0	1	0
chr2	151546001	151546001	-	AA	intronic	NEB	.	.	.	Nemaline myopathy 2, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	284391	not_specified|Nemaline_Myopathy,_Recessive	MedGen:CN169374|MedGen:CN239479	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1440	0.0604	0.1574	0.115	0.1876	0.1587	0.1786	0.1441	0.0003458	9	26028	rs762865768	0.2258	0.2310	0.2267	0.2250	0.2483	0.2249	0.2246	0.2429	0.2407	0.0953	0.2483	0.1663	0.2286	0.2610	0.2082	0.2370	0.2191	0.1566	0.2744	0.2754	0.2758	0.2730	0.3541	0.2721	0.2712	0.3503	0.3487	0.1258	0.1437	0.2926	0.2221	0.2815	0.3645	0.2993	0.3541	0.2795	0.2023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	992.86	25	chr2	151546001	.	T	TAA	992.86	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.411;DP=224;ExcessHet=3.1439;FS=2.519;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=7.94;ReadPosRankSum=0.757;SOR=0.968	GT:AD:DP:GQ:PL	0/1:4,9:28:7:263,73,295	3	0	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2395.03	10	chr2	169294717	.	TAAA	T	2395.03	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0.908;DP=297;ExcessHet=0;FS=2.234;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=28.51;ReadPosRankSum=0.447;SOR=0.586	GT:AD:DP:GQ:PL	1/0:0,6:20:88:517,146,140	0	0	6	1
chr2	178722029	178722029	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon75:c.G18902A:p.R6301Q,TTN:NM_001256850:exon76:c.G21683A:p.R7228Q,TTN:NM_001267550:exon78:c.G22634A:p.R7545Q	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	YES	55868	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Cardiomyopathy|not_provided|Tibial_muscular_dystrophy|not_specified|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:C3661900|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:CN169374|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.212	0.0116915352262	0.0030	0.000199681	0.0020	0.0012	0.0006	0	0.0005	0.0030	0.0056	0.0009	0.0018952	293	154602	rs72648969	0.0032	0.0032	0.0033	0.0030	0.0034	0.0031	0.0030	0.0033	0.0033	0.0005	0.0006	0.0144	2.52e-05	0.0007	0	0.0034	0.0039	0.0013	0.0019	0.0019	0.0019	0.0019	0.0030	0.0017	0.0017	0.0027	0.0025	0.0005	0	0.0008	0.0112	0	0.0002	0	0.0030	0.0019	0.0014	0.389	0.10874	T	.	.	.	0.91	0.50240	P	0.203	0.37000	B	.	.	.	.	0.999996	0.58761	D	.	.	.	-0.18	0.65747	T	-1.56	0.37759	N	0.35	0.43514	-0.9174	0.45904	T	0.112	0.40029	T	9	0.0066078007	0.00150	T	0.011692	0.29566	T	0.212	0.50341	.	.	0.170165803431	0.16609	.	.	0.15309083238	0.17276	0.379114866257	0.22131	T	.	.	.	-0.353465	0.04513	T	-0.281343	0.46666	T	0.0103780768956334	0.00142	T	0.745225	0.41282	T	.	.	.	.	.	.	.	.	-2.477	0.06315	T	.	.	0.093	0.13830	B	.;.;.;.	.;.;.;.	3.421265	0.47502	22.5	0.9726883317865942	0.33126	0.11764	0.16847	N	AEFBI	0.151890	0.27646	N	0.115154905156839	0.47168	2.946465	0.210974272542622	0.50456	3.237434	0.928290240603696	0.26923	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	1.274000	0.32736	.	.	0.599000	0.40250	0.048000	0.21332	1.000000	0.68203	0.979000	0.57723	0.0:0.7349:0.1342:0.1309	8.324	0.31306	343	0.85802	.;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	0.000504	0.000000	0.000000	0.000000	0.050000	0.000000	0.000000	0.000000	0.07143	1931.44	33	chr2	178722029	.	C	T	1931.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.84;DP=358;ExcessHet=0;FS=1.187;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-1.52;SOR=0.828	GT:AD:DP:GQ:PL	0/1:98,77:175:99:1942,0,2379	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	538.28	6	chr2	222201817	.	C	CA	538.28	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0;DP=95;ExcessHet=6.1542;FS=0;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=9.97;ReadPosRankSum=0.209;SOR=0.818	GT:AD:DP:GQ:PL	0/1:5,6:11:90:104,0,90	3	0	3	1
chr2	227293291	227293291	G	C	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon38:c.G3311C:p.G1104A	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	0	1520	2	0	0	2	0.000657462	.	.	YES	3716774	Alport_syndrome_3b,_autosomal_recessive|Autosomal_dominant_Alport_syndrome|Hematuria,_benign_familial,_2	MONDO:MONDO:0957811,MedGen:C5882699,OMIM:620536|MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918|MONDO:MONDO:0958186,MedGen:C5830421,OMIM:620320	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	0.967	0.918336046561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.724e-06	2.751e-06	0.0002	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	1.657e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000022	0.55875	D	0.000000	1	0.81001	D	3.61	0.93830	H	-5.98	0.99601	D	-5.38	0.88630	D	0.931	0.93605	0.968	0.96674	D	0.992	0.99807	D	10	0.99338204	0.99867	D	0.918336	0.99397	D	0.967	0.99571	0.999	0.99990	0.956458347045	0.95599	0.9460237556403748	0.94584	0.203387455224	0.22757	0.639426231384	0.58482	T	0.678079	0.90517	D	0.557126	0.96041	D	0.562496	0.95980	D	0.997464656829834	0.91620	D	0.955504	0.91515	D	0.82222474	0.85370	0.812013	0.89028	0.82222474	0.85371	0.812013	0.89029	-10.198	0.75088	D	0.8268452681746912	0.89858	0.343	0.56105	A	.;.	.;.	3.928717	0.57408	23.9	0.99564906848005785	0.72014	0.98492	0.83351	D	AEFBI	0.523359	0.54699	D	1.0237759536302	0.96430	14.685	0.92434552035115	0.96548	14.834	0.916934022098801	0.26527	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	5.746000	0.68317	11.601000	0.93476	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.776000	0.36750	0.0:0.0:1.0:0.0	15.769	0.77920	889	0.27310	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	986.46	41	chr2	227293291	.	G	C	986.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.79;DP=269;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-2.636;SOR=0.604	GT:AD:DP:GQ:PL	0/1:47,37:84:99:997,0,1139	6	0	1	0
chr2	233681881	233681881	T	G	intronic	UGT1A10;UGT1A8;UGT1A9	.	.	.	.	428	424	473	197	0	867	0.505539	.	.	.	434018	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.297724	.	.	.	.	.	.	.	.	0.0682721	10555	154602	rs7586110	0.3789	0.3761	0.3766	0.3812	0.4147	0.3780	0.3777	0.4109	0.4093	0.2677	0.2150	0.4392	0.2203	0.4509	0.3963	0.3864	0.3689	0.4147	0.3407	0.3409	0.3372	0.3444	0.4123	0.3383	0.3372	0.3972	0.3911	0.2656	0.4748	0.2715	0.4392	0.2030	0.4744	0.3639	0.3807	0.3145	0.4123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5822.12	57	chr2	233681881	.	T	G	5822.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.572;DP=501;ExcessHet=3.6764;FS=4.316;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.211;SOR=0.989	GT:AD:DP:GQ:PL	0/1:52,34:86:99:743,0,1254	1	1	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	207.13	2	chr2	233757013	.	T	G	207.13	.	AC=4;AF=0.5;AN=8;DP=13;ExcessHet=0;FS=0;MLEAC=4;MLEAF=0.5;MQ=60;QD=29.59;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,5:5:15:172,15,0	2	2	0	3
chr2	240787257	240787257	G	A	exonic	KIF1A	.	synonymous SNV	KIF1A:NM_001244008:exon5:c.C423T:p.S141S,KIF1A:NM_001320705:exon5:c.C423T:p.S141S,KIF1A:NM_001330289:exon5:c.C423T:p.S141S,KIF1A:NM_001330290:exon5:c.C423T:p.S141S,KIF1A:NM_001379631:exon5:c.C423T:p.S141S,KIF1A:NM_001379632:exon5:c.C423T:p.S141S,KIF1A:NM_001379633:exon5:c.C423T:p.S141S,KIF1A:NM_001379634:exon5:c.C423T:p.S141S,KIF1A:NM_001379635:exon5:c.C423T:p.S141S,KIF1A:NM_001379636:exon5:c.C423T:p.S141S,KIF1A:NM_001379637:exon5:c.C423T:p.S141S,KIF1A:NM_001379638:exon5:c.C423T:p.S141S,KIF1A:NM_001379639:exon5:c.C423T:p.S141S,KIF1A:NM_001379640:exon5:c.C423T:p.S141S,KIF1A:NM_001379641:exon5:c.C423T:p.S141S,KIF1A:NM_001379642:exon5:c.C423T:p.S141S,KIF1A:NM_001379645:exon5:c.C423T:p.S141S,KIF1A:NM_001379646:exon5:c.C423T:p.S141S,KIF1A:NM_001379648:exon5:c.C423T:p.S141S,KIF1A:NM_001379649:exon5:c.C423T:p.S141S,KIF1A:NM_001379650:exon5:c.C423T:p.S141S,KIF1A:NM_001379651:exon5:c.C423T:p.S141S,KIF1A:NM_001379653:exon5:c.C423T:p.S141S,KIF1A:NM_004321:exon5:c.C423T:p.S141S	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	0	1508	14	0	0	14	0.00462046	.	.	.	288973	Inborn_genetic_diseases|Hereditary_spastic_paraplegia_30|Neuropathy,_hereditary_sensory,_type_2C|Intellectual_disability,_autosomal_dominant_9|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0012476,MedGen:C5235139,OMIM:610357,Orphanet:101010|MONDO:MONDO:0013634,MedGen:C3280168,OMIM:614213,Orphanet:970|MONDO:MONDO:0013656,MedGen:C5393830,OMIM:614255,Orphanet:662367|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0005	0	0.0002	0.0001	0	6.067e-05	0.0011	0.0030	0.0004075	63	154602	rs565992344	0.0003	0.0003	0.0002	0.0003	0.0032	0.0002	0.0002	0.0028	0.0027	2.988e-05	2.237e-05	0	5.038e-05	0	0.0017	6.658e-05	0.0004	0.0032	0.0001	0.0001	8.995e-05	0.0002	0.0033	8.661e-05	7.254e-05	0.0021	0.0017	0	0	0	0	0	0	0.0034	2.941e-05	0.0005	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.07143	1439.44	35	chr2	240787257	.	G	A	1439.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.86;DP=351;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.94;ReadPosRankSum=-1.016;SOR=0.693	GT:AD:DP:GQ:PL	0/1:97,64:161:99:1450,0,2177	6	0	1	0
chr3	10064724	10064724	C	T	intronic	FANCD2	.	.	.	Fanconi anemia, complementation group D2, Autosomal recessive	0	1353	169	0	0	169	0.0587826	0	0.002	.	215265	Fanconi_anemia_complementation_group_A|Hereditary_breast_ovarian_cancer_syndrome|not_provided|Fanconi_anemia_complementation_group_D2|Fanconi_anemia|not_specified	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:C3661900|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0063	0.0008	0.0058	0.0009	0.0020	0.0022	0.0013	5.82e-05	9	154602	rs4019784	0.0006	0.0104	0.0006	0.0006	0.0171	0.0006	0.0006	0.0141	0.0130	0.0010	0.0002	0.0004	0.0028	0.0031	0.0171	0.0003	0.0011	0.0006	0.0021	0.0255	0.0020	0.0022	0.0034	0.0019	0.0018	0.0029	0.0027	0.0034	0.0012	0.0025	0.0013	0.0032	0.0020	0	0.0012	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	53.8	36	chr3	10064724	.	C	T	53.8	.	AC=3;AF=0.3;AN=10;BaseQRankSum=1.08;DP=270;ExcessHet=1.383;FS=7.153;MLEAC=3;MLEAF=0.3;MQ=57.73;MQRankSum=-5.858;QD=0.32;ReadPosRankSum=-2.106;SOR=1.663	GT:AD:DP:GQ:PL	0/1:42,5:47:26:26,0,1135	2	0	3	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1153.74	8	chr3	27721936	.	G	GCGGCGC	1153.74	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.967;DP=73;ExcessHet=0.7136;FS=2.731;MLEAC=5;MLEAF=0.417;MQ=60;MQRankSum=0;QD=24.55;ReadPosRankSum=-1.864;SOR=0.302	GT:AD:DP:GQ:PL	0/1:2,5:7:69:204,0,69	2	1	3	1
chr3	44901672	44901672	G	A	exonic	TGM4	.	stopgain	TGM4:NM_003241:exon7:c.G806A:p.W269X	.	428	1034	59	1	0	61	0.0286519	.	.	YES	1174741	Essential_tremor	MONDO:MONDO:0003233,MedGen:C0270736,OMIM:PS190300	no_assertion_criteria_provided	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	0.0070	0.00519169	0.0084	0.0008	0.0054	0.0001	0.0114	0.0096	0.0177	0.0129	0.0079365	1227	154602	rs139860990	0.0078	0.0079	0.0074	0.0083	0.0359	0.0077	0.0077	0.0319	0.0303	0.0016	0.0072	0.0216	5.038e-05	0.0114	0.0359	0.0070	0.0100	0.0148	0.0079	0.0079	0.0074	0.0084	0.0138	0.0075	0.0074	0.0123	0.0117	0.0013	0.0647	0.0138	0.0213	0.0002	0.0119	0.0408	0.0087	0.0085	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	0.000516	0.43753	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26044	0.79570	D	0.613004	0.97331	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	6.758159	0.95693	35	0.98430627671716242	0.41397	0.94692	0.62003	D	AEFDBI	0.051856	0.09201	N	0.265486187549569	0.54408	3.606505	-0.0550447570393013	0.37272	2.180135	0.999722947169698	0.42220	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	2.83	1.91	0.24841	5.428000	0.66226	2.333000	0.32207	0.591000	0.32079	1.000000	0.71638	1.000000	0.68203	0.062000	0.16114	0.0:0.1757:0.8243:0.0	12.091	0.53024	314	0.87270	Transglutaminase-like|Transglutaminase-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.035354	0.029891	0.023392	0.000000	0.043103	0.018293	0.011364	0.07143	1118.53	43	chr3	44901672	.	G	A	1118.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.523;DP=273;ExcessHet=0;FS=7.332;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.81;ReadPosRankSum=-0.336;SOR=0.993	GT:AD:DP:GQ:PL	0/1:39,42:81:99:1129,0,966	6	0	1	0
chr3	142562919	142562919	T	C	exonic	ATR	.	synonymous SNV	ATR:NM_001184:exon4:c.A483G:p.R161R,ATR:NM_001354579:exon4:c.A483G:p.R161R	Seckel syndrome 1, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	167837	not_specified|not_provided|Inborn_genetic_diseases|Familial_cutaneous_telangiectasia_and_oropharyngeal_predisposition_cancer_syndrome	MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013806,MedGen:C3281203,OMIM:614564,Orphanet:313846	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	0.0004	0	0.0009	0	0	0.0003	0.0033	0.0007	0.0003363	52	154602	rs182268224	0.0003	0.0003	0.0002	0.0003	0.0050	0.0003	0.0002	0.0036	0.0031	0.0002	0.0007	0	0	0	0.0050	0.0002	0.0007	0.0005	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	0.0001	0	0.0007	0	0	0	0.0102	0.0002	0.0005	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.006546	0.000000	0.006793	0.023392	0.000000	0.008621	0.000000	0.000000	0.07143	1802.49	33	chr3	142562919	.	T	C	1802.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.31;DP=295;ExcessHet=0;FS=2.561;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=-1.61;SOR=0.993	GT:AD:DP:GQ:PL	0/1:43,69:112:99:1813,0,963	6	0	1	0
chr3	165773492	165773492	C	T	exonic	BCHE	.	nonsynonymous SNV	BCHE:NM_000055:exon4:c.G1699A:p.A567T	Apnea, postanesthetic (3)	44	964	416	98	0	612	0.240945	.	.	YES	28259	Deficiency_of_butyrylcholinesterase|not_specified|not_provided|Butyrylcholinesterase_activity	MONDO:MONDO:0015270,MedGen:C1283400,OMIM:617936,Orphanet:132|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.136	.	0.1977	0.158546	0.1891	0.1966	0.1155	0.1183	0.1714	0.2109	0.1991	0.1939	0.179157	27698	154602	rs1803274	0.1952	0.1965	0.1955	0.1949	0.2300	0.1946	0.1944	0.2197	0.2156	0.1919	0.1175	0.1779	0.1388	0.1691	0.2300	0.2027	0.1945	0.1868	0.1828	0.1828	0.1846	0.1809	0.1978	0.1810	0.1802	0.1950	0.1939	0.1886	0.2121	0.1383	0.1763	0.1173	0.1653	0.2007	0.1978	0.1835	0.1677	0.093	0.31532	T	0.15	0.37872	T	0.001	0.07471	B	0.012	0.16012	B	0.019382	0.27268	N	0.339910	0.933173	0.27002	P	2.455	0.71248	M	-0.18	0.77336	T	-0.52	0.38151	N	0.036	0.01068	-1.0170	0.24690	T	0.001	0.00222	T	9	0.0018072128	0.00024	T	.	.	.	0.136	0.36778	.	.	.	.	0.26196509411827273	0.26109	0.0146452542494	0.01391	0.319616317749	0.13362	T	0.358518	0.74836	T	-0.467858	0.00877	T	-0.301002	0.44619	T	0.0211996116972123	0.00822	T	0.774123	0.42528	T	0.22133149	0.44708	0.23066719	0.48175	0.23999383	0.46897	0.20989761	0.45352	-5.147	0.38398	T	.	.	0.085	0.16538	B	.;.	.;.	3.292023	0.45157	22.1	0.99632838182915928	0.76142	0.91322	0.53300	D	AEFI	0.801494	0.72719	D	-0.00633166657305249	0.41567	2.488702	0.123040286207381	0.45729	2.831012	0.00173072517578264	0.08818	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.03	4.14	0.47821	4.438000	0.59704	2.697000	0.34132	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9138:0.0:0.0862	11.972	0.52358	900	0.24599	Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain;Acetylcholinesterase, tetramerisation domain|Acetylcholinesterase, tetramerisation domain	BCHE	Heart_Atrial_Appendage	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.201010	0.212121	0.191576	0.211310	0.250000	0.146552	0.240854	0.196970	0.3571	2228.29	34	chr3	165773492	.	C	T	2228.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=0.329;DP=251;ExcessHet=0.4813;FS=7.96;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=-1.542;SOR=1.262	GT:AD:DP:GQ:PL	0/1:35,17:52:99:295,0,760	3	1	3	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	0.2857	4823.02	38	chr3	170998041	.	G	A	4823.02	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.866;DP=381;ExcessHet=0.0921;FS=2.971;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=18.41;ReadPosRankSum=0.332;SOR=0.532	GT:AD:DP:GQ:PL	0/1:28,46:74:99:1161,0,738	4	1	2	0
chr4	634704	634704	G	A	exonic	PDE6B	.	nonsynonymous SNV	PDE6B:NM_000283:exon2:c.G496A:p.E166K,PDE6B:NM_001145291:exon2:c.G496A:p.E166K	Night blindness, congenital stationary, autosomal dominant 2, Autosomal dominant;Retinitis pigmentosa-40, Autosomal recessive	1	1465	54	2	0	58	0.019411	.	.	.	295348	not_provided|Retinal_dystrophy|Retinitis_pigmentosa|Congenital_stationary_night_blindness_autosomal_dominant_2	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0008099,MedGen:C1876182,OMIM:163500,Orphanet:215	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.145	.	0.0087	0.00499201	0.0096	0.0020	0.0068	0	0.0042	0.0139	0.0066	0.0065	0.00978	1512	154602	rs115775983	0.0120	0.0121	0.0122	0.0119	0.0137	0.0119	0.0118	0.0135	0.0135	0.0021	0.0074	0.0140	0.0002	0.0050	0.0116	0.0137	0.0114	0.0066	0.0091	0.0091	0.0099	0.0082	0.0131	0.0087	0.0085	0.0124	0.0121	0.0024	0.0802	0.0103	0.0167	0.0004	0.0038	0.0034	0.0131	0.0081	0.0087	1.0	0.00964	T	1.0	0.01155	T	0.017	0.18474	B	0.008	0.16862	B	0.000002	0.62929	D	0.055788	0.999934	0.51612	D	0.52	0.13579	N	-0.23	0.66652	T	0.64	0.02368	N	0.504	0.54234	-0.9719	0.36798	T	0.093	0.35336	T	10	0.006758034	0.00153	T	.	.	.	0.145	0.38592	.	.	0.764465206445	0.76231	0.6591859148317153	0.65855	0.570417275968	0.53198	0.506645441055	0.39754	T	0.181803	0.53359	T	-0.420052	0.01709	T	-0.364476	0.37534	T	0.00907532143853738	0.00114	T	0.927907	0.73422	D	0.27059433	0.50131	0.18972649	0.42335	0.29364362	0.52330	0.16230349	0.37708	-3.517	0.16685	T	0.06406952643032428	0.02014	0.091	0.15385	B	.;.	.;.	2.431908	0.31284	18.70	0.22687550527391873	0.00924	0.86985	0.46393	D	AEFDBI	0.185573	0.31289	N	-0.575143034493976	0.19701	1.033188	-0.411563835111279	0.24658	1.351505	0.0858597422783776	0.15993	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	3.717000	0.54640	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.055000	0.15596	0.0:0.0:1.0:0.0	14.200	0.65237	804	0.43891	.;GAF domain|GAF domain	RP11-1263C18.2	Skin_Not_Sun_Exposed_Suprapubic	PIGG|PIGG|PIGG|PIGG|PIGG|PIGG|PIGG	Adipose_Subcutaneous|Artery_Aorta|Artery_Tibial|Heart_Atrial_Appendage|Heart_Left_Ventricle|Skin_Sun_Exposed_Lower_leg|Testis	rs115775983	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.013595	0.005051	0.017663	0.008772	0.000000	0.034483	0.018293	0.007576	0.07143	1316.63	33	chr4	634704	.	G	A	1316.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.07;DP=283;ExcessHet=0;FS=0.716;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.458;SOR=0.596	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1327,0,1322	6	0	1	0
chr4	9783510	9783510	T	C	UTR3	DRD5	NM_000798:c.*47T>C	.	.	Dystonia, primary cervical (3)	432	231	483	376	0	1235	0.727755	.	.	.	1276892	not_provided|Hereditary_attention_deficit-hyperactivity_disorder	MedGen:C3661900|MONDO:MONDO:0100518,MedGen:CN324066,OMIM:143465	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5689	0.425519	0.5709	0.3972	0.5150	0.3467	0.6116	0.6488	0.5898	0.4565	0.517587	80020	154602	rs1967551	0.6148	0.6108	0.6175	0.6119	0.6440	0.6137	0.6132	0.6427	0.6422	0.3840	0.5321	0.6847	0.3638	0.6146	0.5991	0.6440	0.5866	0.4671	0.5462	0.5462	0.5490	0.5433	0.6414	0.5431	0.5418	0.6364	0.6343	0.3963	0.5552	0.5524	0.6875	0.3346	0.6050	0.5748	0.6414	0.5464	0.4645	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.6667	10690.6	79	chr4	9783510	.	T	C	10690.6	.	AC=8;AF=0.667;AN=12;BaseQRankSum=1.86;DP=547;ExcessHet=3.1439;FS=0;MLEAC=9;MLEAF=0.75;MQ=59.98;MQRankSum=0;QD=20.1;ReadPosRankSum=-0.412;SOR=0.721	GT:AD:DP:GQ:PL	0/1:56,67:123:99:1660,0,1366	0	2	4	1
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	24131.1	115	chr4	38797027	.	C	A	24131.1	.	AC=10;AF=0.833;AN=12;BaseQRankSum=-0.925;DP=977;ExcessHet=0.4139;FS=0;MLEAC=11;MLEAF=0.917;MQ=53.59;MQRankSum=-8.314;QD=25.27;ReadPosRankSum=0.571;SOR=0.728	GT:AD:DP:GQ:PL	0/1:85,88:173:99:2337,0,2189	0	4	2	1
chr4	110008145	110008145	T	C	intronic	EGF	.	.	.	Hypomagnesemia 4, renal	1	1518	3	0	0	3	0.000987167	0	0.002	.	779006	Renal_hypomagnesemia_4|not_provided	MONDO:MONDO:0012717,MedGen:C2673648,OMIM:611718,Orphanet:34527|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0010	0.000798722	0.0012	0.0002	0.0009	0	0.0002	0.0017	0.0033	0.0008	0.0011449	177	154602	rs200524686	0.0013	0.0013	0.0013	0.0013	0.0080	0.0012	0.0012	0.0061	0.0055	0.0002	0.0015	0.0002	0	0.0003	0.0080	0.0014	0.0013	0.0005	0.0009	0.0009	0.0010	0.0008	0.0016	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0008	0.0003	0	9.411e-05	0	0.0016	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1332.53	33	chr4	110008145	.	T	C	1332.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.319;DP=265;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.18;ReadPosRankSum=-0.573;SOR=0.642	GT:AD:DP:GQ:PL	0/1:37,57:94:99:1343,0,802	6	0	1	0
chr4	153703504	153703504	T	C	exonic	TLR2	.	synonymous SNV	TLR2:NM_001318789:exon3:c.T597C:p.N199N,TLR2:NM_001318790:exon3:c.T597C:p.N199N,TLR2:NM_001318791:exon3:c.T597C:p.N199N,TLR2:NM_001318793:exon3:c.T597C:p.N199N,TLR2:NM_001318795:exon3:c.T597C:p.N199N,TLR2:NM_001318796:exon3:c.T597C:p.N199N,TLR2:NM_003264:exon3:c.T597C:p.N199N,TLR2:NM_001318787:exon4:c.T597C:p.N199N	.	433	374	514	201	0	916	0.550481	.	.	.	3197327	TLR2-related_disorder|COVID-19–associated_multisystem_inflammatory_syndrome_in_adults	.|MONDO:MONDO:0100319,MedGen:CN305503	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4947	0.414736	0.4113	0.6113	0.3166	0.2941	0.3755	0.4353	0.3833	0.3322	0.410745	63502	154602	rs3804099	0.4315	0.4315	0.4342	0.4288	0.6172	0.4306	0.4302	0.6102	0.6073	0.6172	0.3330	0.4315	0.3037	0.3765	0.4539	0.4448	0.4302	0.3318	0.4694	0.4697	0.4773	0.4612	0.6193	0.4665	0.4653	0.6129	0.6103	0.6193	0.3282	0.3800	0.4441	0.2870	0.3791	0.4592	0.4393	0.4748	0.3266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.447130	0.444444	0.479620	0.485380	0.650000	0.500000	0.384146	0.409091	0.6667	10586.5	85	chr4	153703504	.	T	C	10586.5	.	AC=8;AF=0.667;AN=12;DP=467;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.75;MQ=60;QD=28.69;SOR=0.754	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3668,369,0	2	4	0	1
chr4	154586438	154586438	T	C	exonic	FGA	.	nonsynonymous SNV	FGA:NM_000508:exon5:c.A991G:p.T331A,FGA:NM_021871:exon5:c.A991G:p.T331A	Afibrinogenemia, congenital, Autosomal recessive;Amyloidosis, familial visceral, Autosomal dominant;Dysfibrinogenemia, congenital;Hypodysfibrinogenemia, congenital	28	792	564	118	20	820	0.33557	.	.	.	31459	not_specified|Venous_thromboembolism,_susceptibility_to|Congenital_afibrinogenemia|Familial_visceral_amyloidosis,_Ostertag_type|not_provided	MedGen:CN169374|MedGen:C1858965|MONDO:MONDO:0008737,MedGen:C2584774,OMIM:202400,Orphanet:335,Orphanet:98880|MONDO:MONDO:0007099,MedGen:C0268389,OMIM:105200,Orphanet:85450|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	.	0.2899	0.327077	0.2872	0.3752	0.2388	0.4541	0.3066	0.2510	0.2841	0.3173	0.279718	43245	154602	rs6050	0.2660	0.2660	0.2650	0.2670	0.4674	0.2653	0.2650	0.4618	0.4595	0.3629	0.2417	0.1859	0.4674	0.3153	0.2183	0.2525	0.2547	0.3265	0.2938	0.2939	0.2929	0.2947	0.4451	0.2915	0.2906	0.4299	0.4237	0.3634	0.2572	0.2478	0.1818	0.4451	0.3124	0.2041	0.2543	0.2578	0.3042	0.471	0.11406	T	0.831	0.08052	T	0.025	0.19245	B	0.008	0.13708	B	0.019120	0.01504	N	3.217810	1	0.08975	P	0.12	0.08593	N	-0.53	0.70833	T	-1.1	0.28497	N	0.017	0.00527	-1.0206	0.23519	T	0.000	0.00011	T	9	0.0003001392	0.00010	T	.	.	.	0.092	0.26621	.	.	.	.	0.18455593357657205	0.18373	0.0582763209917	0.06453	0.271667361259	0.06360	T	0.196286	0.55263	T	-0.68717	0.00043	T	-0.616028	0.11501	T	0.00908341073136414	0.00114	T	0.483152	0.14651	T	0.021154398	0.00703	0.027020706	0.00826	0.024007758	0.01191	0.03657319	0.03131	-5.133	0.38253	T	.	.	0.070	0.03625	B	.;.	.;.	-1.623381	0.00229	0.003	0.5951060700015256	0.06241	0.00697	0.02968	N	AEFBHCI	0.231798	0.35497	N	-1.69680907988312	0.00853	0.03690796	-1.74153389084326	0.00965	0.04324642	0.999998855499622	0.74766	0.594549	0.33734	0	0.573888	0.26702	0	0.573888	0.23631	0	0.836244	0.99985	0	.	.	4.95	-6.65	0.01630	-7.952000	0.00035	-20.000000	0.00162	-0.169000	0.11342	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4201:0.2848:0.1048:0.1903	1.170	0.01712	798	0.45050	.;.	TLR2|DCHS2|PLRG1|FGG	Artery_Tibial|Brain_Cortex|Esophagus_Mucosa|Lung	.	.	.	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	0.252266	0.207071	0.221467	0.277778	0.250000	0.250000	0.253049	0.310606	0.4286	10214.4	35	chr4	154586438	.	T	C	10214.4	.	AC=6;AF=0.429;AN=14;BaseQRankSum=3.56;DP=592;ExcessHet=0.0509;FS=0.593;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=21.59;ReadPosRankSum=0.195;SOR=0.637	GT:AD:DP:GQ:PL	1/1:0,190:190:99:5996,569,0	3	2	2	0
chr5	236472	236472	G	T	exonic	SDHA	.	synonymous SNV	SDHA:NM_001294332:exon9:c.G1161T:p.L387L,SDHA:NM_001330758:exon10:c.G1305T:p.L435L,SDHA:NM_004168:exon10:c.G1305T:p.L435L	Cardiomyopathy, dilated, 1GG;Leigh syndrome, Autosomal recessive, Mitochondrial;Mitochondrial respiratory chain complex II deficiency, Autosomal recessive;Paragangliomas 5, Autosomal dominant	0	1450	67	5	0	77	0.025865	.	.	YES	226823	Mitochondrial_complex_II_deficiency,_nuclear_type_1|Paragangliomas_5|Dilated_cardiomyopathy_1GG|Neurodegeneration_with_ataxia_and_late-onset_optic_atrophy|Hereditary_pheochromocytoma-paraganglioma|Hereditary_cancer-predisposing_syndrome|not_specified|not_provided|Leigh_syndrome	MONDO:MONDO:0100294,MedGen:C5700310,OMIM:252011,Orphanet:3208|MONDO:MONDO:0013602,MedGen:C3279992,OMIM:614165,Orphanet:29072|MONDO:MONDO:0013339,MedGen:C3150898,OMIM:613642,Orphanet:154|MONDO:MONDO:0031006,MedGen:C5543254,OMIM:619259|MONDO:MONDO:0017366,MedGen:C1708353,Orphanet:29072|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0009723,MedGen:C2931891,OMIM:256000,Orphanet:506	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0146	0.0151757	0.0193	0.0025	0.0080	0	0.0364	0.0235	0.0121	0.0242	0.0176582	2730	154602	rs35964044	0.0163	0.0163	0.0157	0.0169	0.0373	0.0162	0.0161	0.0332	0.0317	0.0030	0.0103	0.0466	5.039e-05	0.0369	0.0373	0.0149	0.0201	0.0253	0.0154	0.0154	0.0142	0.0167	0.0251	0.0149	0.0147	0.0214	0.0201	0.0026	0	0.0184	0.0467	0.0002	0.0369	0.0102	0.0182	0.0227	0.0251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.035098	0.040541	0.028767	0.047826	0.000000	0.026786	0.020408	0.054622	0.07143	1130.44	36	chr5	236472	.	G	T	1130.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.339;DP=286;ExcessHet=0;FS=3.995;MLEAC=1;MLEAF=0.071;MQ=58.92;MQRankSum=1.28;QD=11.54;ReadPosRankSum=1.27;SOR=1.112	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1141,0,1294	6	0	1	0
chr5	38528850	38528851	AC	-	intronic	LIFR	.	.	.	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	303937	not_provided|Stuve-Wiedemann_syndrome|Stüve-Wiedemann_syndrome_1	MedGen:C3661900|MONDO:MONDO:0031280,MedGen:C0796176,OMIM:PS601559,Orphanet:3206|MONDO:MONDO:0800043,MedGen:C5676888,OMIM:601559,Orphanet:3206	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3454	0.2017	0.3103	0.2720	0.2788	0.3796	0.3684	0.3566	0.0001423	22	154602	rs34759137	0.2992	0.3291	0.2912	0.3066	0.3471	0.2982	0.2977	0.3382	0.3366	0.1605	0.2828	0.4123	0.2437	0.3501	0.3471	0.2931	0.3145	0.3421	0.3263	0.3064	0.3244	0.3283	0.4408	0.3237	0.3227	0.4237	0.4168	0.1328	0.3872	0.3252	0.5692	0.3125	0.3579	0.4286	0.4208	0.3804	0.4408	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1427.23	10	chr5	38528849	.	GAC	G	1427.23	.	AC=6;AF=0.5;AN=12;BaseQRankSum=0;DP=179;ExcessHet=2.3007;FS=1.653;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0;SOR=0.49	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,17:19:24:.:.:546,24,0:.	1	1	4	1
chr5	58990910	58990910	-	A	intronic	PDE4D	.	.	.	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	304675	Acrodysostosis|not_provided	MONDO:MONDO:0019797,MedGen:C0220659,OMIM:PS101800,Orphanet:950|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0823	0.0910	0.0692	0.0160	0.068	0.0833	0.0775	0.0945	0.0001921	5	26028	rs1472076496	0.1087	0.1217	0.1089	0.1085	0.1147	0.1081	0.1079	0.1140	0.1137	0.1136	0.0992	0.0929	0.0329	0.0781	0.0852	0.1147	0.1085	0.1066	0.0918	0.0904	0.0922	0.0913	0.1015	0.0904	0.0899	0.0994	0.0985	0.0941	0.0494	0.0938	0.0764	0.0028	0.0682	0.0778	0.1015	0.0865	0.0847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	648.27	20	chr5	58990910	.	G	GA	648.27	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0.198;DP=195;ExcessHet=6.1542;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=5.4;ReadPosRankSum=-0.537;SOR=0.671	GT:AD:DP:GQ:PL	0/1:14,10:31:99:192,0,315	4	0	2	1
chr5	78002980	78002980	C	T	exonic	AP3B1	.	synonymous SNV	AP3B1:NM_001271769:exon27:c.G3060A:p.Q1020Q,AP3B1:NM_003664:exon27:c.G3207A:p.Q1069Q	Hermansky-Pudlak syndrome 2, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	300344	Hermansky-Pudlak_syndrome_2|not_provided	MONDO:MONDO:0011997,MedGen:C1842362,OMIM:608233,Orphanet:183678,Orphanet:79430|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.000199681	0.0006	0.0002	0.0003	0	0	0.0011	0	0	0.0005821	90	154602	rs34089426	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0006	0.0008	0.0008	5.974e-05	0.0003	7.652e-05	0	0.0002	0.0014	0.0008	0.0005	8.115e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0006	0.0005	0.0001	0.0044	0.0003	0	0	0	0	0.0007	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	1227.49	39	chr5	78002980	.	C	T	1227.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.48;DP=290;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.92;SOR=0.651	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1238,0,1138	6	0	1	0
chr5	83520540	83520540	A	C	exonic	VCAN	.	nonsynonymous SNV	VCAN:NM_001164098:exon7:c.A2234C:p.K745T,VCAN:NM_004385:exon7:c.A2234C:p.K745T	Wagner syndrome 1, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	252025	Vitreoretinopathy|not_provided|Wagner_syndrome|not_specified	Human_Phenotype_Ontology:HP:0000655,Human_Phenotype_Ontology:HP:0007773,MONDO:MONDO:0020248,MedGen:C0344290|MedGen:C3661900|Human_Phenotype_Ontology:HP:0030673,MONDO:MONDO:0007740,MedGen:C1840452,OMIM:143200,Orphanet:898|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.041	0.009711912907	0.0002	0.000399361	0.0002	0	0.0005	0	0	0.0003	0.0011	0.0001	0.000207	32	154602	rs144502710	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0002	0	0.0004	0.0002	0	0	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	0	0.0001	0.0006	0	0	0	0.0003	0.0009	0	0.001	0.78490	D	0.084	0.41239	T	0.958	0.54977	D	0.343	0.49014	B	0.291814	0.03899	N	1.504830	1	0.08975	N	1.65	0.42232	L	2.02	0.21119	T	-1.43	0.35194	N	0.142	0.14905	-1.0681	0.09836	T	0.071	0.29066	T	10	0.024023116	0.00647	T	0.009712	0.25359	T	0.041	0.10877	.	.	0.218628672733	0.21463	0.141843596687934	0.14107	0.0954370582371	0.10785	0.267049998045	0.05760	T	0.222908	0.58690	T	-0.442383	0.01252	T	-0.526057	0.19683	T	0.0284169741236152	0.01748	T	0.618838	0.23746	T	0.12998465	0.30342	0.11220899	0.27073	0.126821	0.29694	0.13178791	0.31638	-2.04	0.03892	T	.	.	0.091	0.22208	B	.;.;.	.;.;.	0.059151	0.04704	1.343	0.99168368057060963	0.54298	0.17401	0.19821	N	AEFGBI	0.075706	0.15211	N	-0.408972455259013	0.25155	1.363375	-0.58160850639922	0.19973	1.074011	0.998726455763077	0.37539	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.586402	0.36253	0	.	.	4.89	2.45	0.28953	0.025000	0.13469	0.751000	0.21237	0.567000	0.28720	0.000000	0.06391	0.000000	0.08366	0.213000	0.22268	0.7119:0.1896:0.0985:0.0	4.856	0.12922	956	0.09877	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.07143	983.44	41	chr5	83520540	.	A	C	983.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.045;DP=267;ExcessHet=0;FS=0.857;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.786;SOR=0.831	GT:AD:DP:GQ:PL	0/1:41,37:78:99:994,0,1133	6	0	1	0
chr5	90708919	90708919	G	A	intronic	ADGRV1	.	.	.	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	5	1514	2	1	0	4	0.00131926	.	.	.	744171	not_provided|Usher_syndrome_type_2C	MedGen:C3661900|MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0006	0.0002	0.0003	0	0	0.0002	0.0011	0.0032	0.0004916	76	154602	rs180693049	0.0004	0.0004	0.0003	0.0005	0.0046	0.0003	0.0003	0.0032	0.0027	3.051e-05	0.0002	0	0	0	0.0046	0.0002	0.0007	0.0028	0.0004	0.0004	0.0003	0.0005	0.0019	0.0003	0.0003	0.0012	0.0010	0	0	0.0017	0	0	0	0	0.0003	0.0005	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1089.53	33	chr5	90708919	.	G	A	1089.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.73;DP=262;ExcessHet=0;FS=1.803;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=-0.22;SOR=0.94	GT:AD:DP:GQ:PL	0/1:38,46:84:99:1100,0,817	6	0	1	0
chr5	126554286	126554286	C	A	splicing	ALDH7A1	NM_001182:exon13:c.1200+1G>T;NM_001201377:exon13:c.1116+1G>T	.	.	Epilepsy, pyridoxine-dependent, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.936	YES	454169	Pyridoxine-dependent_epilepsy|not_provided	MONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100,Orphanet:3006|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217642695	2.738e-06	2.736e-06	2.724e-06	2.752e-06	3.599e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.599e-06	0	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.926591	0.94084	33	0.99545244406190447	0.70773	0.99797	0.99532	D	AEFBI	.	.	.	1.13035590222599	0.98658	18.93974	0.963360650264605	0.97785	16.76022	0.999999962541062	0.74766	0.156188	0.03335	0	0.060609	0.00678	0	0.231514	0.04749	0	0.221052	0.04502	0	0.973415	0.75867	5.13	5.13	0.69729	5.541000	0.66921	4.873000	0.45587	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	0.605000	0.31514	0.0:1.0:0.0:0.0	18.532	0.90947	698	0.58074	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	995.53	33	chr5	126554286	.	C	A	995.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.627;DP=271;ExcessHet=0;FS=0.767;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.719;SOR=0.551	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1006,0,1268	6	0	1	0
chr5	137621778	137621779	AC	-	UTR3	KLHL3	NM_001257194:c.*320_*319delGT;NM_001257195:c.*320_*319delGT;NM_017415:c.*320_*319delGT	.	.	Pseudohypoaldosteronism, type IID, Autosomal recessive, Autosomal dominant	198	17	1	10	0	21	0.381818	.	.	.	295447	not_provided|Autosomal_dominant_pseudohypoaldosteronism_type_1	MedGen:C3661900|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001229	19	154602	rs3839339	0.5955	0.4913	0.5950	0.5960	0.6139	0.5923	0.5910	0.6098	0.6081	0.5778	0.5607	0.5865	0.4989	0.6331	0.5928	0.6139	0.5961	0.5130	0.8291	0.8282	0.8340	0.8240	0.8789	0.8253	0.8237	0.8730	0.8705	0.8015	0.9372	0.7848	0.8130	0.5670	0.8739	0.8571	0.8789	0.8235	0.6780	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	226.49	3	chr5	137621777	.	TAC	T	226.49	.	AC=2;AF=0.25;AN=8;DP=14;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.375;MQ=59.47;QD=32.36;SOR=0.941	GT:AD:DP:GQ:PL	1/1:0,5:5:15:157,15,0	3	1	0	3
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	0.5714	6818.76	72	chr5	138556481	.	G	A	6818.76	.	AC=8;AF=0.571;AN=14;BaseQRankSum=0.518;DP=470;ExcessHet=1.4958;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=-0.124;SOR=0.656	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1499,0,1171	1	2	4	0
chr5	151343594	151343594	C	A	exonic	SLC36A2	.	nonsynonymous SNV	SLC36A2:NM_181776:exon3:c.G260T:p.G87V	Hyperglycinuria, Autosomal dominant;Iminoglycinuria, digenic, Autosomal recessive, Digenic recessive	0	1483	38	1	0	40	0.0133067	.	.	.	17423	Iminoglycinuria|not_specified|not_provided|Hyperglycinuria	MONDO:MONDO:0009448,MedGen:C0268654,OMIM:242600,Orphanet:42062|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002931,Human_Phenotype_Ontology:HP:0003108,MONDO:MONDO:0007677,MedGen:C0543541,OMIM:138500	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.432	.	0.0092	0.00499201	0.0088	0.0026	0.0030	0	0.0050	0.0134	0.0110	0.0044	0.0089908	1390	154602	rs77010315	0.0107	0.0107	0.0106	0.0108	0.0116	0.0106	0.0105	0.0114	0.0113	0.0020	0.0052	0.0439	5.038e-05	0.0050	0.0101	0.0116	0.0117	0.0038	0.0086	0.0086	0.0083	0.0089	0.0129	0.0082	0.0080	0.0122	0.0119	0.0023	0.0011	0.0073	0.0383	0	0.0055	0.0068	0.0129	0.0057	0.0033	0.0	0.91255	D	0.001	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	A	4.12	0.97420	H	3.14	0.07920	T	-8.18	0.97513	D	0.995	0.99929	-0.6764	0.61538	T	0.069	0.28313	T	9	0.012553453	0.00269	T	.	.	.	0.432	0.73807	.	.	0.394837016283	0.39092	0.7155182454776681	0.71494	0.671583912916	0.59468	0.606390237808	0.53806	T	0.323825	0.69470	T	-0.368184	0.03687	T	-0.287367	0.46044	T	0.112875740051369	0.13719	T	0.948705	0.80888	D	0.9690503	0.98171	0.9605027	0.98998	0.9690503	0.98171	0.9498585	0.98391	-11.411	0.81863	D	0.6434398722310304	0.71447	0.712	0.73926	P	.;.	.;.	4.870457	0.79790	27.2	0.99798597864126393	0.88372	0.99517	0.96975	D	AEFBI	0.822574	0.74287	D	0.898874413523405	0.91703	11.021	0.776746888193353	0.88133	9.469648	0.999996913678873	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.45	4.45	0.53365	7.177000	0.77194	7.529000	0.59886	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.872000	0.41544	0.0:1.0:0.0:0.0	17.246	0.86913	827	0.39843	Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	rs77010315	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	0.002520	0.000000	0.004076	0.000000	0.050000	0.000000	0.003049	0.003817	0.1429	1330.24	38	chr5	151343594	.	C	A	1330.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.792;DP=279;ExcessHet=0.3476;FS=2.696;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=-0.067;SOR=0.991	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1267,0,1002	5	0	2	0
chr5	156326864	156326864	A	T	upstream	SGCD	dist=300	.	.	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive	1273	205	11	33	0	77	0.158111	.	.	.	57277	not_specified|Qualitative_or_quantitative_defects_of_delta-sarcoglycan|not_provided	MedGen:CN169374|MONDO:MONDO:0016144,MedGen:C5680806,Orphanet:207070|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147841	3848	26028	rs7724969	0.1647	0.0107	0.1316	0.1742	0.3333	0.1171	0.1010	0.1139	0.0866	0.3333	0	0.5000	0	0	.	0.1562	0.1250	0.3333	0.1901	0.1902	0.1893	0.1909	0.2716	0.1883	0.1875	0.2594	0.2545	0.1894	0.3136	0.1774	0.1791	0.0478	0.2213	0.2721	0.1921	0.1916	0.2716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	40.38	3	chr5	156326864	.	A	T	40.38	.	AC=2;AF=0.5;AN=4;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.5;MQ=60;QD=20.19;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	1	0	5
chr5	156326904	156326904	C	G	upstream	SGCD	dist=260	.	.	Cardiomyopathy, dilated, 1L;Muscular dystrophy, limb-girdle, type 2F, Autosomal recessive	1256	247	4	15	0	34	0.0643939	.	.	.	57276	not_specified|Qualitative_or_quantitative_defects_of_delta-sarcoglycan|not_provided	MedGen:CN169374|MONDO:MONDO:0016144,MedGen:C5680806,Orphanet:207070|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0595897	1551	26028	rs7717393	0.1000	0.0042	0.1111	0.0962	0.2500	0.0469	0.0333	0.0451	0.0308	0.2500	.	0	.	0	.	0.1034	0	.	0.0759	0.0759	0.0745	0.0773	0.1877	0.0747	0.0742	0.1775	0.1735	0.0782	0.0647	0.0816	0.0836	0.0472	0.0449	0.0884	0.0717	0.0827	0.1877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	37.12	2	chr5	156326904	.	C	G	37.12	.	AC=2;AF=0.2;AN=10;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.56;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	2
chr6	7541915	7541915	-	A	UTR5	DSP	NM_001008844:c.-1_0insA;NM_004415:c.-1_0insA;NM_001319034:c.-1_0insA	.	.	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	28	1328	145	21	0	187	0.0657756	.	.	.	44679	not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy|Cardiomyopathy|Lethal_acantholytic_epidermolysis_bullosa|Woolly_hair-skin_fragility_syndrome|Arrhythmogenic_right_ventricular_dysplasia_8|Cardiovascular_phenotype	MedGen:CN169374|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012323,MedGen:C1864826,OMIM:609638,Orphanet:158687|MONDO:MONDO:0957307,MedGen:C1843292,OMIM:620415,Orphanet:293165|MONDO:MONDO:0011831,MedGen:C1843896,OMIM:607450|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1665	0.199681	0.1994	0.2722	0.2824	0.3023	0.2527	0.1686	0.1623	0.1516	0.0316198	823	26028	rs17133512	0.1455	0.1456	0.1471	0.1439	0.3022	0.1450	0.1448	0.2976	0.2958	0.2224	0.2379	0.1041	0.3022	0.1713	0.0852	0.1355	0.1482	0.1249	0.1726	0.1729	0.1700	0.1752	0.2692	0.1708	0.1701	0.2574	0.2526	0.2146	0.1557	0.2166	0.1092	0.2692	0.1649	0.0925	0.1384	0.1570	0.1274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	951.23	36	chr6	7541915	.	C	CA	951.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.355;DP=219;ExcessHet=0;FS=1.043;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=17.95;ReadPosRankSum=0.494;SOR=0.879	GT:AD:DP:GQ:PL	0/1:23,30:53:99:961,0,702	5	0	1	1
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	0.8571	44484.1	201	chr6	7585734	.	G	C	44484.1	.	AC=12;AF=0.857;AN=14;BaseQRankSum=4.13;DP=1788;ExcessHet=0.3476;FS=1.421;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=25.65;ReadPosRankSum=1.19;SOR=0.851	GT:AD:DP:GQ:PL	1/1:0,336:336:99:10971,1008,0	0	5	2	0
chr6	15593088	15593088	-	A	intronic	DTNBP1	.	.	.	Hermansky-Pudlak syndrome 7, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299547	not_provided|not_specified|Hermansky-Pudlak_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.1750	0.2290	0.1567	0.2439	0.1055	0.1306	0.1648	0.2463	0.0002305	6	26028	rs199770715	0.2097	0.2189	0.2101	0.2093	0.2861	0.2090	0.2087	0.2813	0.2793	0.2759	0.1805	0.1867	0.2861	0.1271	0.2397	0.2068	0.2173	0.2499	0.1777	0.1747	0.1766	0.1789	0.3401	0.1758	0.1750	0.3264	0.3209	0.2501	0.0721	0.1769	0.1399	0.3401	0.0776	0.1556	0.1316	0.1878	0.2487	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	735.68	24	chr6	15593088	.	G	GA	735.68	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.656;DP=225;ExcessHet=0.7136;FS=2.05;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=7.21;ReadPosRankSum=0.271;SOR=0.904	GT:AD:DP:GQ:PL	0/1:9,16:28:99:302,0,180	4	0	2	1
chr6	32039081	32039081	C	A	UTR5	CYP21A2	NM_001368143:c.-126C>A;NM_001368144:c.-126C>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	9	182	648	678	5	2009	0.846284	.	.	YES	193439	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|not_specified|not_provided	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.034	.	0.6293	0.650759	0.7060	0.7281	0.7932	0.7161	0.6224	0.7014	0.6834	0.6705	0.588071	90917	154602	rs6467	0.5950	0.5925	0.5939	0.5962	0.7333	0.5940	0.5935	0.7265	0.7237	0.6439	0.7333	0.6468	0.6576	0.4707	0.6835	0.5882	0.6013	0.6165	0.6088	0.6089	0.6127	0.6048	0.7113	0.6055	0.6042	0.7001	0.6955	0.6364	0.6394	0.7113	0.6359	0.6316	0.4363	0.6130	0.5918	0.6460	0.5973	0.313	0.13879	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-0.3	0.67874	T	0.4	0.03463	N	.	.	-1.0318	0.19873	T	0.093	0.35444	T	5	1.7294652e-06	0.00003	T	.	.	.	0.034	0.08419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.636234	0.00088	T	-0.542863	0.18016	T	0.00180369962629931	0.00018	T	0.226077	0.02982	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.05535	B	.	.	0.164705	0.05545	2.006	0.43740471587862012	0.03314	0.00179	0.01050	N	AEFBI	0.087333	0.17709	N	-1.19446011224149	0.05083	0.2309094	-1.36986281538789	0.03577	0.1671443	1.13245368839307E-4	0.05269	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	3.06	-0.591	0.11090	-0.233000	0.09056	.	.	-0.440000	0.05175	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1987:0.5349:0.1383:0.1281	3.239	0.06373	923	0.18507	.	TCF19|C4A|CYP21A2|HLA-DRB9|HLA-DRB5|C4A|CYP21A1P|TNXA|HLA-DRB5|TNXA|CFB|MICB|C6orf48|CFB|C4A|CYP21A1P|HLA-DRB5|MICB|C4A|C4A|HLA-DRB9|HLA-DRB5|HLA-DOB|HLA-DMB|MICB|DDAH2|C4A|C4B|PSMB9|HLA-DRB5|HLA-DRB5|C4A|HLA-DRB5|PSORS1C1|MICB|LY6G6C|C4A|HLA-DRB5|C4A|C4A|HLA-DRB5|HLA-DRB5|MICB|TNXA|HLA-DRB5|MICB|C4A|HLA-DRB5|C4A|CYP21A1P|HLA-DRB5|C4A|TNXA|CYP21A2|HLA-DRB5|C6orf48|C4A|C4B|HLA-DRB5|MICB|MSH5|C6orf48|C4A|C4B|HLA-DRB5|C4A|TNXA|TAP1|HCG22|MICB|C4A|CYP21A1P|HLA-DRB9|HLA-DRB5|HLA-DMA|C4A|C4A|C4B|HLA-DRB5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Cerebellum|Brain_Cerebellum|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Liver|Liver|Liver|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	DXO|HLA-DRB5|HLA-DRB6|HLA-DRB1|VARS|VARS|C6orf15|CDSN|DXO|HLA-DQA1|DXO|CYP21A1P|CYP21A2	Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Brain_Cerebellum|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis|Testis|Testis	rs6467	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.8571	9493.28	43	chr6	32039081	.	C	A	9493.28	.	AC=12;AF=0.857;AN=14;BaseQRankSum=1.55;DP=364;ExcessHet=0.3476;FS=1.313;MLEAC=12;MLEAF=0.857;MQ=59.97;MQRankSum=0;QD=26.44;ReadPosRankSum=1.21;SOR=0.552	GT:AD:DP:GQ:PL	1/1:0,36:36:99:1190,108,0	0	5	2	0
chr6	32041147	32041147	G	A	UTR3	CYP21A2	NM_000500:c.*13G>A;NM_001128590:c.*13G>A;NM_001368143:c.*13G>A;NM_001368144:c.*13G>A	.	.	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, Autosomal recessive;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, Autosomal recessive	14	1454	51	3	0	57	0.0192243	.	.	YES	576926	Classic_congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency|CYP21A2-related_disorder|not_provided|not_specified	MONDO:MONDO:0008728,MedGen:C2936858,OMIM:201910,Orphanet:90794|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0095	0.0251597	0.0270	0.0035	0.0835	0.0835	0.0225	0.0153	0.0228	0.0166	0.0205819	3182	154602	rs6447	0.0173	0.0180	0.0174	0.0171	0.0625	0.0171	0.0170	0.0604	0.0596	0.0027	0.0513	0.0058	0.0625	0.0193	0.0077	0.0152	0.0148	0.0164	0.0157	0.0163	0.0154	0.0160	0.0688	0.0152	0.0150	0.0629	0.0605	0.0039	0.0100	0.0282	0.0066	0.0688	0.0198	0.0068	0.0160	0.0171	0.0164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	992.29	25	chr6	32041147	.	G	A	992.29	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.71;DP=234;ExcessHet=0.3476;FS=5.637;MLEAC=2;MLEAF=0.143;MQ=57.19;MQRankSum=0.74;QD=11.96;ReadPosRankSum=0.535;SOR=1.074	GT:AD:DP:GQ:PL	0/1:27,22:49:99:538,0,560	5	0	2	0
chr6	96896800	96896800	G	A	exonic	NDUFAF4	.	synonymous SNV	NDUFAF4:NM_014165:exon2:c.C184T:p.L62L	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	56	1465	1	0	0	1	0.00034118	.	.	.	304425	not_provided|Mitochondrial_complex_I_deficiency,_nuclear_type_1	MedGen:C3661900|MONDO:MONDO:0100224,MedGen:CN257533,OMIM:252010	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00419329	0.0016	0	0	0.0207	0	0.0001	0	0.0005	0.0014618	226	154602	rs78567928	0.0005	0.0005	0.0005	0.0005	0.0149	0.0005	0.0005	0.0139	0.0135	0	0	0.0002	0.0149	0	0.0002	5.216e-05	0.0005	0.0006	0.0007	0.0007	0.0006	0.0007	0.0169	0.0006	0.0005	0.0141	0.0130	2.406e-05	0	6.539e-05	0.0003	0.0169	0	0	0.0001	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.07143	820.45	35	chr6	96896800	.	G	A	820.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.42;DP=230;ExcessHet=0;FS=1.01;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=14.15;ReadPosRankSum=0.679;SOR=0.838	GT:AD:DP:GQ:PL	0/1:27,31:58:99:831,0,647	6	0	1	0
chr6	107876670	107876670	-	AA	intronic	SEC63	.	.	.	Polycystic liver disease 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	301016	Polycystic_liver_disease_1|Polycystic_liver_disease_2|not_provided	MONDO:MONDO:0008265,MedGen:C0887850,OMIM:174050,Orphanet:2924|MONDO:MONDO:0014860,MedGen:C4310769,OMIM:617004,Orphanet:2924|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027278	71	26028	rs749125299	0.1375	0.1591	0.1371	0.1380	0.1657	0.1368	0.1364	0.1514	0.1458	0.1372	0.1235	0.1475	0.1060	0.1498	0.1657	0.1397	0.1464	0.1241	0.1681	0.1681	0.1687	0.1674	0.1888	0.1661	0.1653	0.1847	0.1830	0.1888	0.1671	0.1785	0.1605	0.1144	0.1398	0.2468	0.1609	0.1787	0.1661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	625.82	7	chr6	107876670	.	C	CAA	625.82	.	AC=2;AF=0.2;AN=10;BaseQRankSum=0.566;DP=111;ExcessHet=0.095;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;MQRankSum=0;QD=20.86;ReadPosRankSum=-0.319;SOR=1.123	GT:AD:DP:GQ:PL	0/1:0,8:16:84:356,86,84	3	0	2	2
chr6	131884939	131884939	C	T	exonic	ENPP1	.	nonsynonymous SNV	ENPP1:NM_006208:exon23:c.C2320T:p.R774C	Arterial calcification, generalized, of infancy, 1, Autosomal recessive;Cole disease, Autosomal dominant;Hypophosphatemic rickets, autosomal recessive, 2	1	1427	92	2	0	96	0.0325424	.	.	.	28625	Type_2_diabetes_mellitus|not_provided|Arterial_calcification,_generalized,_of_infancy,_1|Hypophosphatemic_rickets,_autosomal_recessive,_2|not_specified	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:0008817,MedGen:C4551985,OMIM:208000,Orphanet:51608|MONDO:MONDO:0013219,MedGen:C2750078,OMIM:613312,Orphanet:289176|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	.	0.0264	0.01877	0.0332	0.0050	0.0124	0.0002	0.0945	0.0381	0.0242	0.0391	0.0316231	4889	154602	rs28933977	0.0344	0.0346	0.0340	0.0349	0.0402	0.0342	0.0341	0.0391	0.0386	0.0046	0.0119	0.0134	0.0002	0.0971	0.0248	0.0347	0.0319	0.0402	0.0282	0.0282	0.0263	0.0302	0.0366	0.0275	0.0272	0.0354	0.0349	0.0056	0.0987	0.0147	0.0107	0.0006	0.0925	0.0204	0.0366	0.0308	0.0355	0.008	0.58626	D	0.025	0.56192	D	0.967	0.56408	D	0.806	0.58437	P	0.656614	0.10464	N	0.848594	0.970586	0.38809	D	1.245	0.31408	L	-0.28	0.67543	T	-1.73	0.41046	N	0.136	0.13341	-0.8367	0.52865	T	0.188	0.53856	T	10	0.0044817626	0.00092	T	.	.	.	0.258	0.56959	.	.	.	.	0.5527615564937547	0.55202	0.747786030408	0.63611	0.211476936936	0.00876	T	0.407119	0.76282	T	-0.384824	0.02904	T	-0.28682	0.46103	T	0.0378080786344718	0.03299	T	0.79742	0.44137	T	0.07002272	0.15388	0.07948223	0.17896	0.09690692	0.22835	0.06881932	0.14420	-11.218	0.80840	D	0.27200696408221064	0.36577	0.106	0.19559	B	.;.	.;.	4.199890	0.63365	24.6	0.99856038771613742	0.93458	0.66565	0.33123	D	AEFBI	0.296067	0.40601	N	0.0265946949372309	0.43065	2.60698	0.0178614397178848	0.40544	2.421388	0.0269375635423906	0.13743	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.91	2.8	0.31881	1.822000	0.38690	0.025000	0.13648	-0.218000	0.08083	0.917000	0.31872	0.001000	0.17328	0.982000	0.59238	0.3654:0.4143:0.2203:0.0	7.410	0.26184	824	0.40336	DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease;DNA/RNA non-specific endonuclease|Extracellular Endonuclease, subunit A|DNA/RNA non-specific endonuclease	RPS12	Esophagus_Gastroesophageal_Junction	.	.	.	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	0.029708	0.020202	0.017663	0.014620	0.050000	0.051724	0.051829	0.041667	0.1429	2112.44	35	chr6	131884939	.	C	T	2112.44	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.683;DP=318;ExcessHet=0.3476;FS=0.571;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.069;SOR=0.771	GT:AD:DP:GQ:PL	0/1:33,38:71:99:881,0,723	5	0	2	0
chr6	143489446	143489446	G	A	UTR3	PEX3	NM_003630:c.*220G>A	.	.	Peroxisome biogenesis disorder 10A (Zellweger), Autosomal recessive	585	933	2	2	0	6	0.00320513	.	.	.	299228	Peroxisome_biogenesis_disorder_10A_(Zellweger)|not_provided	MONDO:MONDO:0013948,MedGen:C3553999,OMIM:614882,Orphanet:912|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0063777	166	26028	rs117247312	0.0061	0.0058	0.0061	0.0062	0.0077	0.0059	0.0058	0.0073	0.0071	0.0018	0.0037	0.0041	7.14e-05	0.0007	0.0032	0.0077	0.0070	0.0059	0.0050	0.0050	0.0053	0.0047	0.0078	0.0047	0.0046	0.0072	0.0070	0.0018	0	0.0059	0.0069	0	0.0009	0.0034	0.0078	0.0043	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	70.41	2	chr6	143489446	.	G	A	70.41	.	AC=2;AF=0.333;AN=6;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=60;QD=32.41;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:80,6,0	2	1	0	4
chr6	152391580	152391580	-	AAAAAA	intronic	SYNE1	.	.	.	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	299476	Cerebellar_ataxia|not_provided|Emery-Dreifuss_muscular_dystrophy	Human_Phenotype_Ontology:HP:0001251,Human_Phenotype_Ontology:HP:0001253,Human_Phenotype_Ontology:HP:0002513,Human_Phenotype_Ontology:HP:0007050,Human_Phenotype_Ontology:HP:0007157,MONDO:MONDO:0000437,MedGen:C0007758,Orphanet:102002|MedGen:CN517202|MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0692	0.0572	0.0446	0.1472	0.0524	0.0572	0.0842	0.1106	0.0001921	5	26028	rs768125041	0.1080	0.1249	0.1087	0.1074	0.2456	0.1075	0.1073	0.2409	0.2389	0.0980	0.0497	0.0906	0.2456	0.0967	0.0955	0.1050	0.1115	0.1270	0.1623	0.1700	0.1628	0.1618	0.3566	0.1604	0.1596	0.3411	0.3349	0.1644	0.1811	0.1235	0.1686	0.3566	0.1421	0.1619	0.1554	0.1614	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	520.74	17	chr6	152391580	.	G	GAAAAAA	520.74	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.501;DP=172;ExcessHet=0.1336;FS=3.742;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.536;SOR=0.434	GT:AD:DP:GQ:PL	0/1:20,5:27:99:214,0,773	5	0	1	1
chr6	159692840	159692840	A	G	exonic	SOD2	.	nonsynonymous SNV	SOD2:NM_000636:exon2:c.T47C:p.V16A,SOD2:NM_001024465:exon2:c.T47C:p.V16A,SOD2:NM_001024466:exon2:c.T47C:p.V16A,SOD2:NM_001322814:exon2:c.T47C:p.V16A,SOD2:NM_001322815:exon2:c.T47C:p.V16A,SOD2:NM_001322816:exon2:c.T47C:p.V16A	.	426	313	516	267	0	1050	0.626492	.	.	.	29790	SOD2_POLYMORPHISM|Microvascular_complications_of_diabetes,_susceptibility_to,_6	.|MONDO:MONDO:0012970,MedGen:C2675128,OMIM:612634	no_assertion_criteria_provided	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.048	.	0.4731	0.410743	0.5024	0.4521	0.6492	0.1596	0.5033	0.5162	0.4902	0.5375	0.0001153	3	26028	rs4880	0.4921	0.4920	0.4930	0.4912	0.6131	0.4912	0.4908	0.6070	0.6045	0.4286	0.6131	0.5060	0.1309	0.4807	0.4419	0.5013	0.4763	0.5191	0.4704	0.4704	0.4750	0.4656	0.5368	0.4675	0.4663	0.5271	0.5231	0.4245	0.4901	0.5368	0.5193	0.1435	0.4668	0.4658	0.5033	0.4693	0.5118	0.926	0.09806	T	0.979	0.20680	T	0.024	0.19075	B	0.014	0.16862	B	0.003125	0.35389	N	0.321860	1	0.28987	P	.	.	.	2.8	0.17923	T	0.35	0.06138	N	0.034	0.02964	-0.9308	0.44021	T	0.008	0.02679	T	8	3.9671322e-05	0.00008	T	.	.	.	0.048	0.13305	.	.	.	.	0.24148455001478597	0.24062	0.559626915364	0.52497	0.639073014259	0.58432	T	0.006216	0.10632	T	-0.680986	0.00047	T	-0.607145	0.12218	T	0.00926767202390716	0.00118	T	0.00962761	0.00101	T	0.019719824	0.00509	0.04335931	0.05377	0.019719824	0.00508	0.04335931	0.05376	-2.567	0.10127	T	.	.	0.065	0.07412	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.792224	0.11628	8.214	0.81617120455707348	0.13775	0.13403	0.17836	N	ALL	0.032084	0.03557	N	-0.854084909372284	0.11949	0.5796162	-0.812104859326894	0.14202	0.7408959	0.999999999993235	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.9	3.08	0.34576	2.202000	0.42377	4.081000	0.41738	-0.176000	0.10722	0.649000	0.28163	0.999000	0.35428	0.111000	0.18785	0.1374:0.121:0.7416:0.0	9.062	0.35603	725	0.54935	.;.;.;.;.;.;.;.	RP3-393E18.2|MRPL18|RP3-393E18.2|WTAP|MRPL18|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|MRPL18|PNLDC1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2|ACAT2|MRPL18|MRPL18|RP3-393E18.2|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|MRPL18|SOD2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|MRPL18|MRPL18|RP3-393E18.2|ACAT2|MRPL18|RP3-393E18.2|MRPL18|RP3-393E18.2|RP3-393E18.2|HNRNPH1P1|PNLDC1|RP3-393E18.2|MRPL18|RP3-393E18.2	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Brain_Cortex|Brain_Hippocampus|Brain_Hippocampus|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Spleen|Testis|Testis|Testis|Thyroid|Thyroid|Whole_Blood	SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|SOD2|MRPL18	Adipose_Subcutaneous|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Transverse|Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Stomach|Testis	rs4880	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.440524	0.429293	0.388587	0.514620	0.650000	0.439655	0.429448	0.477273	0.5	6078.12	33	chr6	159692840	.	A	G	6078.12	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.446;DP=294;ExcessHet=0.3696;FS=1.405;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=24.12;ReadPosRankSum=0.657;SOR=0.551	GT:AD:DP:GQ:PL	1/1:0,55:55:99:1920,165,0	2	2	3	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	0.4286	5108.06	49	chr6	170561964	.	G	A	5108.06	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.991;DP=760;ExcessHet=0.4813;FS=1.376;MLEAC=6;MLEAF=0.429;MQ=59.96;MQRankSum=0;QD=12.83;ReadPosRankSum=2.57;SOR=0.778	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:40,29:74:99:.:.:1760,0,1434:.	2	1	4	0
chr7	21867834	21867834	-	T	intronic	DNAH11	.	.	.	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	5	243	697	577	0	1851	0.792041	.	.	.	195811	Primary_ciliary_dyskinesia_7|DNAH11-related_disorder|not_provided	MONDO:MONDO:0012748,MedGen:C2678473,OMIM:611884,Orphanet:244|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.5730	0.033746	0.6045	0.2099	0.5787	0.4320	0.7077	0.7382	0.6483	0.5081	0.0130593	2019	154602	rs5882827	0.6962	0.6889	0.7006	0.6917	0.7467	0.6950	0.6946	0.7453	0.7447	0.1630	0.5066	0.7145	0.3626	0.7006	0.6058	0.7467	0.6467	0.4931	0.5446	0.5436	0.5484	0.5405	0.7376	0.5414	0.5401	0.7322	0.7299	0.1879	0.7073	0.5525	0.7209	0.3473	0.7068	0.5959	0.7376	0.5801	0.4740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10960.4	49	chr7	21867834	.	G	GT	10960.4	.	AC=10;AF=0.714;AN=14;BaseQRankSum=-1.147;DP=401;ExcessHet=2.5225;FS=2.299;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=27.96;ReadPosRankSum=-0.669;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,30:84:99:0|1:21867834_G_GT:1097,0,2153:21867834	0	3	4	0
chr7	30633897	30633897	A	-	UTR3	GARS1	NM_001316772:c.*37delA;NM_002047:c.*37delA	.	.	.	.	.	.	.	.	.	.	.	.	.	311094	Peripheral_axonal_neuropathy|not_provided|Distal_spinal_muscular_atrophy|Charcot-Marie-Tooth_disease_type_2	Human_Phenotype_Ontology:HP:0003477,Human_Phenotype_Ontology:HP:0006814,Human_Phenotype_Ontology:HP:0006842,Human_Phenotype_Ontology:HP:0007169,Human_Phenotype_Ontology:HP:0008304,MONDO:MONDO:0004183,MedGen:C1263857|MedGen:C3661900|MONDO:MONDO:0018894,MedGen:C0393541,Orphanet:53739|MONDO:MONDO:0018993,MedGen:C0270914,Orphanet:64746	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.4340	0.3441	0.4374	0.3782	0.4914	0.4724	0.4415	0.3535	0.0001153	3	26028	rs70983380	0.4481	0.4561	0.4506	0.4455	0.4627	0.4470	0.4466	0.4612	0.4607	0.3255	0.4260	0.4633	0.3725	0.4512	0.4627	0.4624	0.4401	0.3583	0.5853	0.5832	0.5905	0.5799	0.6886	0.5820	0.5807	0.6833	0.6812	0.4015	0.7719	0.5987	0.7201	0.4922	0.6382	0.6586	0.6886	0.5897	0.4457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1551.99	11	chr7	30633896	.	TA	T	1551.99	.	AC=6;AF=0.5;AN=12;BaseQRankSum=1.15;DP=138;ExcessHet=3.1439;FS=5.336;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=16.69;ReadPosRankSum=-0.842;SOR=1.397	GT:AD:DP:GQ:PL	0/1:7,7:14:99:122,0,119	0	0	6	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	4651.75	18	chr7	92499847	.	CA	C	4651.75	.	AC=11;AF=0.786;AN=14;BaseQRankSum=-0.911;DP=239;ExcessHet=0;FS=0;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=27.36;ReadPosRankSum=1.54;SOR=0.951	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1118,120,0	1	5	1	0
chr7	103989356	103989356	-	GCCGCC	UTR5	RELN	NM_173054:c.-1_0insGGCGGC;NM_005045:c.-1_0insGGCGGC	.	.	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	74	331	411	457	249	1574	0.666834	.	.	.	135555	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|Lissencephaly,_Recessive|not_provided|not_specified	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:CN239458|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.604233	0.0752	0.0333	0.0078	0.0295	0.0487	0.0216	0.1337	0.2712	0.0001153	3	26028	rs587780434	0.4279	0.4210	0.4270	0.4288	0.6345	0.4270	0.4266	0.6265	0.6232	0.4306	0.2776	0.3620	0.6345	0.3927	0.4386	0.4227	0.4408	0.5133	0.5219	0.5255	0.5206	0.5232	0.7433	0.5188	0.5175	0.7227	0.7143	0.5155	0.4234	0.5423	0.4904	0.7433	0.5017	0.5647	0.5012	0.5010	0.6741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	3648.44	34	chr7	103989356	.	T	TGCCGCC	3648.44	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.025;DP=327;ExcessHet=0.3696;FS=2.647;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=20.85;ReadPosRankSum=1.37;SOR=0.523	GT:AD:DP:GQ:PL	0/1:28,15:43:99:545,0,1122	2	1	4	0
chr7	107674151	107674151	T	C	intronic	SLC26A4	.	.	.	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	52726	Autosomal_recessive_nonsyndromic_hearing_loss_4|not_specified|Pendred_syndrome|not_provided	MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0042	0.00658946	0.0013	0.0133	0.0006	0	0	8.992e-05	0.0011	0	0.0012613	195	154602	rs77553387	0.0005	0.0005	0.0006	0.0004	0.0162	0.0005	0.0004	0.0150	0.0146	0.0162	0.0006	0	0	0	0.0017	4.692e-05	0.0012	1.161e-05	0.0042	0.0043	0.0043	0.0042	0.0147	0.0040	0.0039	0.0137	0.0134	0.0147	0	0.0013	0	0	0	0.0068	4.41e-05	0.0038	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	314.27	18	chr7	107674151	.	T	C	314.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.427;DP=159;ExcessHet=0;FS=1.451;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.462;SOR=0.984	GT:AD:DP:GQ:PL	0/1:23,13:36:99:324,0,642	5	0	1	1
chr7	107696048	107696048	C	T	intronic	SLC26A4	.	.	.	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	1	1512	9	0	0	9	0.00296736	.	.	.	174162	not_provided|Pendred_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0005	0.00219649	0.0020	9.61e-05	0.0003	0	0	0.0004	0.0011	0.0129	0.00174	269	154602	rs368970459	0.0012	0.0011	0.0007	0.0016	0.0132	0.0011	0.0011	0.0126	0.0123	0.0002	0.0002	7.955e-05	5.143e-05	0.0002	0.0028	0.0003	0.0013	0.0132	0.0006	0.0006	0.0004	0.0008	0.0125	0.0005	0.0005	0.0099	0.0090	7.227e-05	0	0.0005	0	0	0	0	0.0003	0.0024	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	595.83	39	chr7	107696048	.	C	T	595.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.644;DP=240;ExcessHet=0;FS=2.388;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=-1.442;SOR=1.118	GT:AD:DP:GQ:PL	0/1:25,26:51:99:606,0,541	6	0	1	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	0.3571	3984.94	33	chr7	113878379	.	C	A	3984.94	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.978;DP=424;ExcessHet=0.4813;FS=0.405;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=-0.801;SOR=0.672	GT:AD:DP:GQ:PL	0/1:72,62:134:99:1521,0,1855	3	1	3	0
chr7	114663436	114663436	-	T	intronic	FOXP2	.	.	.	Speech-language disorder-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	177727	Inborn_genetic_diseases|Childhood_apraxia_of_speech|not_specified	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.3236	0.209465	0.3636	0.1063	0.2943	0.1724	0.4590	0.4369	0.3610	0.3263	0.0001153	3	26028	rs1478553257	0.3837	0.3970	0.3848	0.3826	0.4175	0.3828	0.3824	0.4164	0.4159	0.0938	0.2799	0.2759	0.1190	0.4085	0.1994	0.4175	0.3570	0.3056	0.3203	0.3199	0.3227	0.3178	0.4529	0.3179	0.3169	0.4486	0.4469	0.1010	0.3819	0.3039	0.2802	0.1440	0.4542	0.1910	0.4529	0.2949	0.3137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1648.31	26	chr7	114663436	.	A	AT	1648.31	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-1.245;DP=203;ExcessHet=0;FS=3.212;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=23.89;ReadPosRankSum=0.25;SOR=0.503	GT:AD:DP:GQ:PL	1/1:0,43:43:99:1242,129,0	5	1	1	0
chr7	114690130	114690131	TT	-	UTR3	FOXP2	NM_148898:c.*204_*205delTT;NM_001172766:c.*204_*205delTT;NM_014491:c.*204_*205delTT;NM_148900:c.*204_*205delTT	.	.	Speech-language disorder-1, Autosomal dominant	1263	223	17	6	13	42	0.0610526	.	.	.	309389	Childhood_apraxia_of_speech|not_provided	MONDO:MONDO:0011184,MedGen:C0750927,OMIM:602081,Orphanet:209908|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.2943	0.1519	0.2660	0.2459	0.5	0.3062	0.3085	0.2950	0.0001153	3	26028	rs1491483744	0.3016	0.2890	0.3046	0.2993	0.3328	0.2999	0.2992	0.3305	0.3295	0.1122	0.2560	0.2335	0.1858	0.3346	0.1654	0.3328	0.2969	0.2722	0.3343	0.3286	0.3380	0.3302	0.4557	0.3316	0.3305	0.4512	0.4494	0.1210	0.4123	0.3255	0.2964	0.1699	0.4509	0.2406	0.4557	0.3113	0.3274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	58.2	1	chr7	114690129	.	CTT	C	58.2	.	AC=2;AF=0.2;AN=10;DP=7;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=29.1;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:69,6,0	4	1	0	2
chr7	117548629	117548630	TT	-	ncRNA_intronic	CFTR-AS1	.	.	.	.	71	1256	118	17	60	212	0.0570571	.	.	.	205614	Cystic_fibrosis|CFTR-related_disorder|Congenital_bilateral_absence_of_vas_deferens|Hereditary_pancreatitis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Bronchiectasis_with_or_without_elevated_sweat_chloride_1,_modifier_of|Obstructive_azoospermia|not_specified|not_provided	MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C5924204|MONDO:MONDO:0018801,MedGen:C1865433,OMIM:PS277180,Orphanet:48|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676|MONDO:MONDO:0010178,MedGen:C0403814,OMIM:277180,Orphanet:48|MONDO:MONDO:0008887,MedGen:C2749757,OMIM:211400,Orphanet:60033|MedGen:C4017631|Human_Phenotype_Ontology:HP:0011962,MedGen:C4023106|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	0.0231629	0.0280	0.0651	0.0182	0.0095	0.0297	0.0323	0.0165	0.0092	0.0061856	161	26028	rs1491448762	0.0286	0.0304	0.0295	0.0278	0.0558	0.0284	0.0283	0.0536	0.0528	0.0558	0.0101	0.0181	0.0004	0.0276	0.0110	0.0316	0.0300	0.0065	0.0357	0.0351	0.0363	0.0351	0.0620	0.0349	0.0345	0.0599	0.0591	0.0620	0.0449	0.0167	0.0188	0	0.0328	0.0108	0.0311	0.0300	0.0086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1049.43	54	chr7	117548628	.	GTT	G	1049.43	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.504;DP=294;ExcessHet=1.1394;FS=2.866;MLEAC=1;MLEAF=0.071;MQ=57.79;MQRankSum=0.743;QD=10.19;ReadPosRankSum=1;SOR=1.071	GT:AD:DP:GQ:PL	0/1:34,32:66:99:665,0,1162	6	0	1	0
chr7	117594998	117594998	T	C	exonic	CFTR	.	synonymous SNV	CFTR:NM_000492:exon15:c.T2559C:p.I853I	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	4	1511	7	0	0	7	0.00231099	.	.	YES	301687	not_specified|Cystic_fibrosis|not_provided|Hereditary_pancreatitis	MedGen:CN169374|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586|MedGen:C3661900|MONDO:MONDO:0008185,MedGen:C0238339,OMIM:167800,Orphanet:676	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000599042	0.0003	0	0.0007	0	0	0.0002	0	0.0005	0.0002458	38	154602	rs1800104	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0018	0.0014	5.98e-05	0.0008	3.831e-05	0	0	0.0028	0.0002	0.0003	0.0006	0.0002	0.0002	0.0002	0.0001	0.0005	0.0001	9.698e-05	0.0003	0.0002	0	0	0.0005	0	0	0	0	0.0002	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.001007	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.07143	1480.44	35	chr7	117594998	.	T	C	1480.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.265;DP=326;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-0.122;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,69:141:99:0|1:117594998_T_C:1491,0,2816:117594998	6	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	0.7857	13950.1	64	chr7	127611134	.	T	G	13950.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.17;DP=578;ExcessHet=1.1394;FS=0.666;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=24.65;ReadPosRankSum=0.824;SOR=0.586	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3424,321,0	0	4	3	0
chr7	127611678	127611678	-	A	splicing	PAX4	NM_001366111:exon9:c.772-2->T;NM_001366110:exon11:c.772-2->T	.	.	Diabetes mellitus, type 2, Autosomal dominant;Maturity-onset diabetes of the young, type IX	0	212	14	0	0	14	0.0319635	.	.	.	301762	not_provided|Maturity-onset_diabetes_of_the_young_type_9|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|MONDO:MONDO:0012818,MedGen:C2677132,OMIM:612225,Orphanet:552|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0409	.	0.0308	0.0965	0.0139	0.0048	0.0169	0.0210	0.0412	0.0615	0.0002846	44	154602	rs35434068	0.0275	0.0831	0.0267	0.0282	0.1057	0.0272	0.0271	0.1023	0.1009	0.1057	0.0157	0.0122	0.0044	0.0253	0.0514	0.0244	0.0318	0.0487	0.0309	0.0305	0.0315	0.0302	0.0752	0.0301	0.0298	0.0729	0.0720	0.0752	0	0.0148	0.0066	0.0008	0.0144	0.0571	0.0133	0.0302	0.0366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	888.04	26	chr7	127611678	.	T	TA	888.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.4;DP=285;ExcessHet=1.1394;FS=3.887;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=5.38;ReadPosRankSum=-0.426;SOR=0.445	GT:AD:DP:GQ:PL	0/1:31,37:71:99:779,0,681	5	0	2	0
chr7	129205670	129205670	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon4:c.G808A:p.V270I	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	422	1089	11	0	0	11	0.00502513	.	.	.	139008	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.368	.	0.0086	0.00239617	0.0074	0.0011	0.0023	0	0.0056	0.0109	0.0033	0.0058	0.0074191	1147	154602	rs111694017	0.0093	0.0093	0.0093	0.0093	0.0106	0.0091	0.0091	0.0104	0.0104	0.0015	0.0025	0.0096	2.519e-05	0.0064	0.0090	0.0106	0.0081	0.0055	0.0073	0.0073	0.0080	0.0067	0.0117	0.0070	0.0068	0.0110	0.0107	0.0018	0.0669	0.0034	0.0107	0	0.0057	0.0102	0.0117	0.0043	0.0056	1.0	0.00964	T	0.632	0.07150	T	0.047	0.21998	B	0.006	0.12133	B	0.000008	0.62929	D	0.111433	0.999946	0.51968	D	-0.385	0.03041	N	-1.53	0.81559	D	0.26	0.04380	N	0.211	0.23506	-0.7917	0.55630	T	0.156	0.48772	T	10	0.012343407	0.00266	T	.	.	.	0.368	0.68757	.	.	0.7379173449	0.73557	0.2942428290023384	0.29337	0.50681636426	0.48873	0.676300823689	0.63739	T	0.362373	0.72829	T	-0.474194	0.00801	T	-0.442892	0.28485	T	0.0159573050272741	0.00378	T	0.833117	0.50161	T	0.114749916	0.27086	0.060912553	0.11678	0.114749916	0.27085	0.060912553	0.11677	-2.548	0.06118	T	.	.	0.085	0.10111	B	.	.	3.276368	0.44867	22.0	0.86085403290971718	0.16304	0.90625	0.51957	D	AEFDBI	0.259709	0.37800	N	-0.31535562114274	0.28564	1.576571	-0.0367968268644263	0.38066	2.237538	0.787360263019864	0.23954	0.719381	0.83141	0	0.709663	0.81188	0	0.723133	0.82415	0	0.655142	0.61905	0	.	.	5.57	5.57	0.84021	4.676000	0.61317	11.754000	0.95474	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0758:0.0:0.9242:0.0	13.807	0.62732	714	0.56256	Frizzled/Smoothened, transmembrane domain|Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain|Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010574	0.000000	0.010870	0.020468	0.000000	0.017241	0.006098	0.007576	0.07143	2384.44	33	chr7	129205670	.	G	A	2384.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.667;DP=397;ExcessHet=0;FS=2.443;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=-0.201;SOR=0.687	GT:AD:DP:GQ:PL	0/1:97,100:197:99:2395,0,2207	6	0	1	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	.	.	.	.	.	.	.	.	0.2857	514.95	26	chr7	131505863	.	C	T	514.95	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.484;DP=383;ExcessHet=2.5225;FS=253.118;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.72;ReadPosRankSum=1.03;SOR=8.977	GT:AD:DP:GQ:PL	0/1:55,36:91:99:249,0,884	3	0	4	0
chr8	11808562	11808562	G	C	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287750:exon1:c.G45C:p.K15N	.	0	225	1	0	0	1	0.00221729	.	.	.	1037841	not_provided|FDFT1-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0051483	134	26028	rs181750463	0.0080	0.0069	0.0082	0.0078	0.0092	0.0079	0.0078	0.0091	0.0090	0.0016	0.0026	0	0	0.0016	0.0003	0.0092	0.0070	0.0004	0.0045	0.0045	0.0052	0.0038	0.0081	0.0043	0.0042	0.0076	0.0074	0.0014	0	0.0042	0	0	0.0004	0	0.0081	0.0038	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013361603	0.00284	T	.	.	.	.	.	.	.	.	.	0.25797449620942636	0.25711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428957	0.11607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.841	0.79281	P	.	.	2.247927	0.28711	17.89	0.91072291409567174	0.20324	0.91547	0.53758	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999993405534	0.74766	0.162408	0.03677	1	0.090139	0.02499	0	0.132232	0.03703	1	0.143876	0.04018	0	0.823858	0.49243	4.32	3.45	0.38602	5.258000	0.65299	.	.	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.1025:0.0:0.8975:0.0	9.259	0.36762	963	0.08280	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	238.31	13	chr8	11808562	.	G	C	238.31	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.164;DP=63;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.33;ReadPosRankSum=0.997;SOR=1.27	GT:AD:DP:GQ:PL	0/1:5,8:13:99:248,0,169	5	0	1	1
chr8	22163910	22163910	G	C	exonic	SFTPC	.	nonsynonymous SNV	SFTPC:NM_001317779:exon4:c.G304C:p.A102P,SFTPC:NM_001172357:exon5:c.G445C:p.A149P,SFTPC:NM_001172410:exon5:c.G463C:p.A155P,SFTPC:NM_001317778:exon5:c.G445C:p.A149P,SFTPC:NM_001317780:exon5:c.G445C:p.A149P,SFTPC:NM_001385653:exon5:c.G463C:p.A155P,SFTPC:NM_003018:exon5:c.G463C:p.A155P,SFTPC:NM_001385660:exon6:c.G304C:p.A102P,SFTPC:NM_001385654:exon7:c.G463C:p.A155P,SFTPC:NM_001385655:exon7:c.G463C:p.A155P,SFTPC:NM_001385656:exon7:c.G445C:p.A149P,SFTPC:NM_001385657:exon7:c.G445C:p.A149P,SFTPC:NM_001385658:exon7:c.G445C:p.A149P,SFTPC:NM_001385659:exon7:c.G445C:p.A149P	Surfactant metabolism dysfunction, pulmonary, 2, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	304877	not_provided|not_specified|Interstitial_lung_disease_2|Surfactant_metabolism_dysfunction,_pulmonary,_2	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0800029,MedGen:C5561926,OMIM:178500,Orphanet:2032,Orphanet:79126|MONDO:MONDO:0024465,MedGen:C1970470,OMIM:610913	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.547	0.0545171781103	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0003	0	0.0004	0.0002199	34	154602	rs202145169	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	0	2.236e-05	0	0	0	0.0002	0.0002	0.0001	0.0003	0.0001	0.0001	0.0001	0.0001	0.0002	8.655e-05	7.248e-05	0.0001	8.875e-05	2.404e-05	0	0.0002	0	0	0	0	0.0002	0.0009	0.0002	0.157	0.28395	T	0.246	0.40586	T	.	.	.	.	.	.	0.872432	0.07184	N	1.067260	1	0.08975	N	.	.	.	-1.31	0.79666	T	-1.33	0.41428	N	0.1	0.19055	-0.9471	0.41465	T	0.237	0.60451	T	10	0.0447284	0.03463	T	0.054517	0.65885	D	0.547	0.81193	.	.	0.593515057505	0.59029	0.6145508798823447	0.61387	0.577822155158	0.53695	0.328964650631	0.14777	T	0.025483	0.19048	T	-0.16086	0.26629	T	-0.152684	0.59006	T	0.00790225081601422	0.00093	T	0.549445	0.19782	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.19478	B	.;.;.;.	.;.;.;.	1.142976	0.15306	11.75	0.90113081400050943	0.19394	0.08522	0.14440	N	AEFDBI	0.367566	0.45498	N	-1.09176565298304	0.06794	0.3137763	-1.14816901127425	0.06801	0.3286011	0.999843778089155	0.43971	0.59774	0.34471	0	0.596491	0.49125	0	0.596491	0.31596	0	0.63947	0.58350	0	.	.	4.98	-2.78	0.05512	-0.180000	0.09747	1.415000	0.26314	0.671000	0.69459	0.000000	0.06391	0.002000	0.18203	0.075000	0.16954	0.1872:0.1191:0.2051:0.4886	1.538	0.02395	555	0.71762	BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS domain;BRICHOS domain|BRICHOS domain|BRICHOS 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	0.001511	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.07143	1847.44	43	chr8	22163910	.	G	C	1847.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.37;DP=346;ExcessHet=0;FS=0.652;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.157;SOR=0.796	GT:AD:DP:GQ:PL	0/1:54,81:135:99:1858,0,1135	6	0	1	0
chr8	38148699	38148699	C	T	exonic	STAR	.	synonymous SNV	STAR:NM_000349:exon2:c.G120A:p.L40L	Lipoid adrenal hyperplasia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	305189	STAR-related_disorder|Congenital_lipoid_adrenal_hyperplasia_due_to_STAR_deficency|not_provided|not_specified	.|MONDO:MONDO:0008725,MedGen:C0342474,OMIM:201710,Orphanet:418,Orphanet:90790|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0029	0.00279553	0.0028	0.0009	0.0032	0	0.0012	0.0039	0.0067	0.0015	0.002859	442	154602	rs138786388	0.0034	0.0034	0.0033	0.0034	0.0039	0.0033	0.0032	0.0038	0.0038	0.0006	0.0025	0.0013	0	0.0016	0.0029	0.0039	0.0029	0.0011	0.0025	0.0025	0.0028	0.0023	0.0043	0.0023	0.0023	0.0039	0.0037	0.0009	0	0.0018	0.0012	0	0.0014	0.0034	0.0043	0.0014	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004028	0.015152	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.08333	567.27	33	chr8	38148699	.	C	T	567.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.177;DP=204;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.387;SOR=0.612	GT:AD:DP:GQ:PL	0/1:24,27:51:99:577,0,508	5	0	1	1
chr8	60795139	60795139	A	G	intronic	CHD7	.	.	.	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1514	7	1	0	9	0.00296345	.	.	.	314876	Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|CHARGE_syndrome	MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	8.669e-05	0	0	0.0002	0	6.089e-05	8.41e-05	13	154602	rs752854030	0.0002	0.0002	0.0002	0.0002	0.0019	0.0002	0.0002	0.0011	0.0008	3.023e-05	4.574e-05	0	0	0	0.0019	0.0002	8.314e-05	0.0002	5.253e-05	5.249e-05	3.855e-05	6.713e-05	0.0006	2.555e-05	1.829e-05	0.0002	9e-05	2.406e-05	0	6.533e-05	0	0	0	0	4.411e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1044.53	34	chr8	60795139	.	A	G	1044.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.235;DP=270;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-1.063;SOR=0.629	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1055,0,1124	6	0	1	0
chr8	67076486	67076486	A	G	exonic	CSPP1	.	nonsynonymous SNV	CSPP1:NM_001363131:exon3:c.A104G:p.K35R,CSPP1:NM_001363132:exon3:c.A104G:p.K35R,CSPP1:NM_001363133:exon3:c.A104G:p.K35R,CSPP1:NM_001364869:exon3:c.A212G:p.K71R,CSPP1:NM_001364870:exon3:c.A212G:p.K71R,CSPP1:NM_001382391:exon3:c.A104G:p.K35R,CSPP1:NM_024790:exon3:c.A212G:p.K71R	Joubert syndrome 21, Autosomal recessive	438	1074	10	0	0	10	0.00463392	.	.	.	439323	not_provided|CSPP1-related_disorder|Joubert_syndrome_21	MedGen:C3661900|.|MONDO:MONDO:0014288,MedGen:C3810212,OMIM:615636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.081	0.032919025482	0.0003	0.000998403	0.0009	0	0.0007	0	0	0.0007	0.0022	0.0035	0.000815	126	154602	rs200158932	0.0007	0.0008	0.0007	0.0008	0.0037	0.0007	0.0007	0.0034	0.0032	3.223e-05	0.0009	0.0048	0	1.901e-05	0.0020	0.0005	0.0012	0.0037	0.0008	0.0008	0.0007	0.0009	0.0033	0.0007	0.0006	0.0021	0.0017	9.635e-05	0	0.0022	0.0075	0	0	0	0.0006	0.0014	0.0033	0.167	0.31088	T	0.397	0.15157	T	0.675	0.41275	P	0.23	0.38212	B	.	.	.	.	0.999968	0.52935	D	2.175	0.60977	M	0.01	0.62459	T	-1.58	0.38151	N	0.29	0.32812	-0.9104	0.46805	T	0.168	0.50713	T	9	0.004075825	0.00080	T	0.032919	0.54612	D	0.081	0.23632	.	.	0.618220796974	0.61513	0.13224687950424716	0.13149	0.260233757708	0.28594	0.417426407337	0.27483	T	0.039126	0.25082	T	-0.506299	0.00527	T	-0.503091	0.22027	T	0.0435329575867889	0.04335	T	0.722728	0.33613	T	.	.	.	.	.	.	.	.	-4.079	0.24980	T	.	.	0.086	0.10691	B	.;.	.;.	3.978801	0.58476	24.0	0.96336002961567346	0.29466	0.77316	0.38000	D	AEFDBHI	0.176160	0.30336	N	-0.592453376376473	0.19172	1.001356	-0.56047423542501	0.20528	1.106393	0.422258865873599	0.20301	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.53	3.09	0.34677	3.732000	0.54746	.	.	-0.095000	0.16041	0.996000	0.39380	0.999000	0.35428	0.014000	0.10232	0.737:0.263:0.0:0.0	12.555	0.55595	358	0.85037	.;.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.009146	0.000000	0.1429	1073.26	34	chr8	67076486	.	A	G	1073.26	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.58;DP=265;ExcessHet=0.3476;FS=3.701;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=-1.154;SOR=1.136	GT:AD:DP:GQ:PL	0/1:37,30:67:99:744,0,931	5	0	2	0
chr8	132941528	132941528	C	A	exonic	TG	.	nonsynonymous SNV	TG:NM_003235:exon26:c.C5219A:p.T1740K	Thyroid dyshormonogenesis 3, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	722859	not_provided|Iodotyrosyl_coupling_defect	MedGen:C3661900|MONDO:MONDO:0010135,MedGen:C0342194,OMIM:274700,Orphanet:95716	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	.	0.0080	0.00758786	0.0023	0.0262	0.0005	0	0	0	0	0	0.0021216	328	154602	rs16904791	0.0007	0.0007	0.0008	0.0006	0.0264	0.0007	0.0007	0.0249	0.0244	0.0264	0.0014	0	0	0	0.0010	8.993e-06	0.0016	2.319e-05	0.0075	0.0075	0.0078	0.0071	0.0259	0.0071	0.0069	0.0246	0.0241	0.0259	0	0.0030	0	0	0	0	7.349e-05	0.0033	0	0.002	0.72154	D	0.008	0.67890	D	0.514	0.37393	P	0.036	0.22909	B	0.180730	0.03180	N	1.642720	1	0.08975	N	2.19	0.61577	M	-0.25	0.67011	T	-2.13	0.48354	N	0.285	0.32259	-0.9220	0.45279	T	0.092	0.35010	T	10	0.008458972	0.00192	T	.	.	.	0.144	0.38394	.	.	0.810901720151	0.80912	0.4627720739836157	0.46196	0.0895148867953	0.10113	0.295309662819	0.09703	T	0.118532	0.43941	T	-0.510109	0.00501	T	-0.484563	0.23962	T	0.0241126761368785	0.01159	T	0.675332	0.28377	T	0.31504348	0.54219	0.17873062	0.40561	0.5080722	0.67568	0.17803042	0.40443	-3.043	0.10651	T	0.5186647486589467	0.59128	0.331	0.55278	B	.	.	1.747279	0.22230	15.53	0.96835020279510986	0.31282	0.06640	0.12657	N	AEFDGBI	0.105024	0.20996	N	-0.485131604309739	0.22568	1.205935	-0.526456082756643	0.21436	1.160	0.999968848663383	0.48965	0.500041	0.20204	0	0.59043	0.45803	0	0.624306	0.44879	0	0.564101	0.26826	0	.	.	5.61	3.83	0.43287	1.920000	0.39655	-0.005000	0.13145	-0.176000	0.10722	0.006000	0.17386	0.000000	0.08366	0.003000	0.05239	0.0:0.8253:0.0:0.1747	8.737	0.33697	672	0.60758	.	.	.	.	.	.	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	0.002014	0.005051	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.1429	3816.24	33	chr8	132941528	.	C	A	3816.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.15;DP=466;ExcessHet=0.3476;FS=4.468;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.31;ReadPosRankSum=-0.367;SOR=0.498	GT:AD:DP:GQ:PL	0/1:71,85:156:99:2054,0,1743	5	0	2	0
chr8	143923707	143923707	G	A	exonic	PLEC	.	synonymous SNV	PLEC:NM_201378:exon31:c.C6180T:p.S2060S,PLEC:NM_201379:exon31:c.C6156T:p.S2052S,PLEC:NM_201380:exon31:c.C6633T:p.S2211S,PLEC:NM_201381:exon31:c.C6126T:p.S2042S,PLEC:NM_201382:exon31:c.C6222T:p.S2074S,PLEC:NM_201383:exon31:c.C6234T:p.S2078S,PLEC:NM_201384:exon31:c.C6222T:p.S2074S,PLEC:NM_000445:exon32:c.C6303T:p.S2101S	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	1	1516	5	0	0	5	0.00164636	.	.	.	193899	not_provided|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy	MedGen:C3661900|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0.0015	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs370347438	8.04e-05	8.482e-05	8.946e-05	7.113e-05	0.0016	6.811e-05	6.369e-05	0.0008	0.0006	0.0009	2.679e-05	0	2.77e-05	2.898e-05	0.0016	4.983e-05	0.0003	1.241e-05	7.895e-05	7.881e-05	0.0001	5.383e-05	0.0002	4.502e-05	3.516e-05	7.887e-05	5.584e-05	0.0002	0	0	0	0	0	0	5.889e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.002066	0.000000	0.002786	0.005882	0.000000	0.000000	0.000000	0.000000	0.07143	529.83	33	chr8	143923707	.	G	A	529.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.365;DP=234;ExcessHet=0;FS=1.076;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=2.46;SOR=0.927	GT:AD:DP:GQ:PL	0/1:29,23:52:99:540,0,651	6	0	1	0
chr8	144397776	144397782	CCACTGC	-	exonic	CPSF1	.	frameshift deletion	CPSF1:NM_013291:exon21:c.2171_2177del:p.R724Pfs*83	.	409	1110	3	0	0	3	0.00134953	.	.	.	1290049	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0012	0.00239617	0.0005	0.0022	0.0006	0	0	0.0004	0	0	0.0001537	4	26028	rs545383870	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0055	0.0052	0.0062	0.0013	0.0020	0	0	0.0038	0.0002	0.0014	0	0.0017	0.0017	0.0019	0.0014	0.0048	0.0015	0.0014	0.0043	0.0041	0.0048	0	0.0009	0.0020	0	0	0.0136	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1909.5	53	chr8	144397775	.	GCCACTGC	G	1909.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.416;DP=437;ExcessHet=0;FS=14.28;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=24.17;ReadPosRankSum=1.33;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,48:79:99:0|1:144397775_GCCACTGC_G:1920,0,1157:144397775	6	0	1	0
chr8	144397789	144397790	CG	-	exonic	CPSF1	.	frameshift deletion	CPSF1:NM_013291:exon21:c.2163_2164del:p.G723Pfs*14	.	408	1111	3	0	0	3	0.00134831	.	.	.	1290052	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0011	0.00239617	0.0004	0.0019	0.0006	0	0	0.0004	0	0	0.0003234	50	154602	rs562635122	0.0004	0.0004	0.0004	0.0004	0.0062	0.0004	0.0004	0.0055	0.0052	0.0062	0.0013	0.0020	0	0	0.0038	0.0002	0.0014	0	0.0017	0.0017	0.0019	0.0014	0.0048	0.0015	0.0014	0.0042	0.0040	0.0048	0	0.0009	0.0020	0	0	0.0136	0.0004	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1867.45	53	chr8	144397788	.	CCG	C	1867.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.737;DP=441;ExcessHet=0;FS=16.719;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=23.64;ReadPosRankSum=1.54;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,47:79:99:0|1:144397775_GCCACTGC_G:1878,0,1188:144397775	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8772.59	35	chr9	2622146	.	ACGGCGGCGG	A	8772.59	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.396;DP=281;ExcessHet=0;FS=1.454;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=28.03;ReadPosRankSum=-0.138;SOR=0.538	GT:AD:DP:GQ:PL	0/1:31,27:58:99:1041,0,1220	1	1	4	1
chr9	14842660	14842660	C	G	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon9:c.G1394C:p.G465A,FREM1:NM_144966:exon10:c.G1394C:p.G465A	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	5	1397	115	5	0	125	0.0428229	0.7675	0.582	.	215773	not_provided|Congenital_diaphragmatic_hernia|Oculotrichoanal_syndrome|not_specified	MedGen:C3661900|Human_Phenotype_Ontology:HP:0000776,Human_Phenotype_Ontology:HP:0006604,MONDO:MONDO:0005711,MeSH:D065630,MedGen:C0235833,OMIM:PS142340,Orphanet:2140|MONDO:MONDO:0009560,MedGen:C1855425,OMIM:248450,Orphanet:2717|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.337	.	0.0099	0.0199681	0.0186	0.0108	0.0443	0.0175	0.0009	0.0091	0.0196	0.0529	0.0169726	2624	154602	rs41298151	0.0128	0.0128	0.0118	0.0137	0.0475	0.0126	0.0126	0.0462	0.0457	0.0119	0.0401	0.0021	0.0165	0.0010	0.0290	0.0095	0.0150	0.0475	0.0120	0.0120	0.0113	0.0127	0.0435	0.0116	0.0114	0.0387	0.0368	0.0109	0.0505	0.0192	0.0026	0.0187	0.0007	0.0238	0.0095	0.0265	0.0435	0.017	0.51248	D	0.012	0.63918	D	0.998	0.73220	D	0.899	0.63802	P	0.000068	0.52346	N	0.202129	0.999671	0.48205	D	2.93	0.84523	M	0.33	0.58323	T	-4.11	0.74980	D	0.574	0.61511	-0.4955	0.68812	T	0.221	0.58396	T	10	0.007178992	0.00163	T	0.050605	0.64312	D	0.337	0.65913	.	.	.	.	0.7100395082716132	0.70945	.	.	0.507683515549	0.39899	T	0.410525	0.76524	T	-0.460076	0.00982	T	-0.397873	0.33631	T	0.0337219308297482	0.02591	T	0.888211	0.61727	D	0.35948035	0.57796	0.38014293	0.63053	0.4236663	0.62336	0.38014293	0.63053	-6.652	0.51448	T	.	.	0.147	0.33319	B	.;.	.;.	3.188836	0.43316	21.7	0.9953131129274787	0.69901	0.98761	0.86513	D	AEFBI	0.881154	0.80831	D	0.428934538463769	0.63020	4.52784	0.371036417734757	0.59785	4.159426	0.922265389065426	0.26702	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.63	3.76	0.42368	4.692000	0.61431	0.270000	0.16646	-0.214000	0.08267	1.000000	0.71638	0.012000	0.20211	0.974000	0.55675	0.0:0.7991:0.1302:0.0707	11.003	0.46831	835	0.38313	.;.	.	.	.	.	.	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	0.027383	0.015152	0.025815	0.012195	0.000000	0.025862	0.030488	0.049242	0.2857	4164.83	36	chr9	14842660	.	C	G	4164.83	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.28;DP=278;ExcessHet=0.0921;FS=1.94;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=23.4;ReadPosRankSum=0.89;SOR=0.499	GT:AD:DP:GQ:PL	0/1:20,33:53:99:1101,0,537	4	1	2	0
chr9	35657891	35657891	C	G	ncRNA_exonic	RMRP	.	.	.	Anauxetic dysplasia, Autosomal recessive;Cartilage-hair hypoplasia, Autosomal recessive;Metaphyseal dysplasia without hypotrichosis, Autosomal recessive	1221	299	0	2	0	4	0.00664452	.	.	YES	459210	not_specified|Metaphyseal_chondrodysplasia,_McKusick_type|not_provided|Anauxetic_dysplasia_1|Metaphyseal_dysplasia_without_hypotrichosis|RMRP-related_disorder|Anauxetic_dysplasia	MedGen:CN169374|MONDO:MONDO:0009595,MedGen:C0220748,OMIM:250250,Orphanet:175|MedGen:C3661900|MONDO:MONDO:0054560,MedGen:C4551965,OMIM:607095,Orphanet:93347|MONDO:MONDO:0009601,MedGen:C1834821,OMIM:250460,Orphanet:1838|.|MONDO:MONDO:0011773,MedGen:C1846796,OMIM:PS607095,Orphanet:93347	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.00279553	0.0008	0	0.0109	0	.	0.0022	0.0085	0.0001	0.0004722	73	154602	rs74810894	0.0025	0.0022	0.0026	0.0024	0.0094	0.0024	0.0023	0.0064	0.0055	0.0053	0.0029	0.0070	0	0.0004	0.0094	0.0028	0.0035	0.0002	0.0032	0.0032	0.0037	0.0027	0.0054	0.0030	0.0029	0.0048	0.0046	0.0054	0	0.0027	0.0066	0	9.413e-05	0.0068	0.0027	0.0052	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	36.9	.	chr9	35657891	.	C	G	36.9	.	AC=2;AF=0.2;AN=10;DP=10;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.2;MQ=60;QD=18.45;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	4	1	0	2
chr9	130452225	130452225	C	T	UTR5	ASS1	NM_000050:c.-4C>T;NM_054012:c.-4C>T	.	.	Citrullinemia, Autosomal recessive	0	1510	12	0	0	12	0.00395778	0.0004	0.04	YES	200174	Citrullinemia_type_I|not_specified|Citrullinemia|not_provided	MONDO:MONDO:0008988,MedGen:C4721769,OMIM:215700,Orphanet:247525|MedGen:CN169374|MONDO:MONDO:0015991,MedGen:C0175683,OMIM:PS215700,Orphanet:187|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	0.000399361	0.0006	0.0005	0.0012	0	0.0002	0.0003	0.0024	0.0016	0.0004592	71	154602	rs138350285	0.0003	0.0003	0.0002	0.0004	0.0062	0.0003	0.0003	0.0046	0.0041	0.0008	0.0006	0.0006	2.519e-05	1.873e-05	0.0062	0.0001	0.0004	0.0018	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0005	0.0004	0.0005	0	0.0005	0.0009	0	0	0.0136	0.0002	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	1033.46	34	chr9	130452225	.	C	T	1033.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.6;DP=257;ExcessHet=0;FS=2.035;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=0.421;SOR=1.085	GT:AD:DP:GQ:PL	0/1:38,38:76:99:1044,0,993	6	0	1	0
chr9	132897614	132897614	A	-	intronic	TSC1	.	.	.	Lymphangioleiomyomatosis;Tuberous sclerosis-1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	58145	Tuberous_sclerosis_syndrome|not_provided|Tuberous_sclerosis_1|Hereditary_cancer-predisposing_syndrome|not_specified|Isolated_focal_cortical_dysplasia_type_II	MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805|MedGen:C3661900|MONDO:MONDO:0008612,MedGen:C1854465,OMIM:191100,Orphanet:805|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.342652	0.2827	0.3340	0.2770	0.2973	0.3197	0.2811	0.2717	0.2332	0.0002689	7	26028	rs118203716	0.1067	0.1211	0.1068	0.1066	0.1678	0.1063	0.1061	0.1637	0.1620	0.1678	0.1293	0.1160	0.0999	0.1215	0.1610	0.1053	0.1095	0.0811	0.0585	0.0528	0.0588	0.0581	0.0633	0.0572	0.0567	0.0615	0.0608	0.0601	0.0667	0.0514	0.0821	0.0102	0.0409	0.0750	0.0633	0.0607	0.0347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1334.72	29	chr9	132897613	.	GA	G	1334.72	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.407;DP=357;ExcessHet=2.5225;FS=0.658;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=8.34;ReadPosRankSum=-0.549;SOR=0.783	GT:AD:DP:GQ:PL	1/0:10,13:44:96:353,147,422	1	0	6	0
chr9	133555922	133555922	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon11:c.C1641T:p.H547H,ADAMTSL2:NM_014694:exon11:c.C1641T:p.H547H	Geleophysic dysplasia 1, Autosomal recessive	4	1025	431	62	0	555	0.213052	.	.	.	317128	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0156143	2414	154602	rs7868941	0.1558	0.1558	0.1578	0.1537	0.2226	0.1552	0.1550	0.2120	0.2078	0.1409	0.1034	0.1845	0.0005	0.2171	0.2226	0.1673	0.1555	0.0618	0.1564	0.1566	0.1576	0.1552	0.1741	0.1547	0.1540	0.1715	0.1704	0.1426	0.2357	0.1371	0.1958	0.0010	0.2236	0.2041	0.1741	0.1776	0.0504	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3571	3852.31	64	chr9	133555922	.	C	T	3852.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-1.515;DP=421;ExcessHet=4.7409;FS=0.376;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=0.702;SOR=0.732	GT:AD:DP:GQ:PL	0/1:44,41:85:99:891,0,1089	2	0	5	0
chr9	133568420	133568420	C	T	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon14:c.C2022T:p.P674P,ADAMTSL2:NM_014694:exon14:c.C2022T:p.P674P	Geleophysic dysplasia 1, Autosomal recessive	0	1140	340	42	0	424	0.156805	.	.	.	508835	Geleophysic_dysplasia_1|not_specified|not_provided	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0092302	1427	154602	rs534165083	0.1392	0.1391	0.1410	0.1374	0.1524	0.1387	0.1385	0.1518	0.1516	0.0847	0.0821	0.1171	0.0115	0.2030	0.1510	0.1524	0.1308	0.0510	0.1254	0.1256	0.1256	0.1253	0.1561	0.1240	0.1233	0.1537	0.1526	0.0864	0.0439	0.1089	0.1227	0.0039	0.2088	0.1293	0.1561	0.1380	0.0410	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.2143	5267.89	33	chr9	133568420	.	C	T	5267.89	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.61;DP=570;ExcessHet=1.1394;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.87;SOR=0.677	GT:AD:DP:GQ:PL	0/1:75,80:155:99:1972,0,1658	4	0	3	0
chr9	133569476	133569476	A	G	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon16:c.A2313G:p.V771V,ADAMTSL2:NM_014694:exon16:c.A2313G:p.V771V	Geleophysic dysplasia 1, Autosomal recessive	1	295	703	523	0	1749	0.747755	.	.	.	508836	not_provided|Geleophysic_dysplasia_1|not_specified	MedGen:C3661900|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0407239	6296	154602	rs1064975	0.5605	0.5605	0.5634	0.5577	0.7681	0.5595	0.5591	0.7603	0.7570	0.7681	0.4251	0.5568	0.1084	0.5472	0.6215	0.5858	0.5480	0.4461	0.6001	0.6002	0.6089	0.5908	0.7598	0.5968	0.5955	0.7528	0.7499	0.7598	0.3695	0.5075	0.5591	0.0901	0.5535	0.6301	0.5883	0.5572	0.4239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.6429	9203.22	70	chr9	133569476	.	A	G	9203.22	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-0.495;DP=489;ExcessHet=0.4813;FS=1.214;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=19.54;ReadPosRankSum=0.585;SOR=0.57	GT:AD:DP:GQ:PL	1/1:0,90:90:99:2648,270,0	1	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	.	.	.	.	.	.	.	.	0.08333	553.27	31	chr9	133570351	.	C	T	553.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.759;DP=212;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=-0.106;SOR=0.637	GT:AD:DP:GQ:PL	0/1:20,24:44:99:563,0,513	5	0	1	1
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	.	.	.	.	.	.	.	.	0.07143	742.83	34	chr9	133570435	.	C	T	742.83	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.431;DP=260;ExcessHet=0;FS=0.859;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=9.65;ReadPosRankSum=0.562;SOR=0.763	GT:AD:DP:GQ:PL	0/1:41,36:77:99:753,0,979	6	0	1	0
chr9	133573863	133573863	G	A	exonic	ADAMTSL2	.	synonymous SNV	ADAMTSL2:NM_001145320:exon18:c.G2613A:p.V871V,ADAMTSL2:NM_014694:exon18:c.G2613A:p.V871V	Geleophysic dysplasia 1, Autosomal recessive	1	1145	334	42	0	418	0.154357	.	.	.	317138	not_specified|Geleophysic_dysplasia_1|not_provided	MedGen:CN169374|MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0134345	2077	154602	rs62637566	0.1354	0.1354	0.1370	0.1338	0.1550	0.1349	0.1347	0.1471	0.1469	0.0882	0.0810	0.1175	0.0116	0.1984	0.1550	0.1477	0.1287	0.0500	0.1243	0.1245	0.1244	0.1242	0.1520	0.1228	0.1222	0.1496	0.1486	0.0910	0.0570	0.1072	0.1238	0.0039	0.2030	0.1327	0.1520	0.1329	0.0400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.2857	5786.35	33	chr9	133573863	.	G	A	5786.35	.	AC=4;AF=0.286;AN=14;BaseQRankSum=1.16;DP=479;ExcessHet=0.0921;FS=1.755;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=15.85;ReadPosRankSum=0.446;SOR=0.804	GT:AD:DP:GQ:PL	0/1:73,54:127:99:1234,0,1668	4	1	2	0
chr10	6019952	6019952	G	A	intronic	IL2RA	.	.	.	Immunodeficiency 41 with lymphoproliferation and autoimmunity, Autosomal recessive	1	1506	15	0	0	15	0.0049554	0	0	.	868482	Immunodeficiency_due_to_CD25_deficiency	MONDO:MONDO:0011664,MedGen:C1853392,OMIM:606367,Orphanet:169100	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	6.598e-05	0	0.0003	0	0	6.003e-05	0	6.06e-05	5.17e-05	8	154602	rs750468923	7.261e-05	7.251e-05	6.135e-05	8.398e-05	0.0012	6.122e-05	5.707e-05	0.0006	0.0004	2.99e-05	0.0002	0.0005	0	0	0.0012	4.774e-05	0.0001	0.0002	7.228e-05	7.223e-05	6.424e-05	8.069e-05	0.0002	3.971e-05	3.127e-05	5.289e-05	2.836e-05	2.413e-05	0	0.0002	0.0009	0	0	0	4.409e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	685.49	40	chr10	6019952	.	G	A	685.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.377;DP=255;ExcessHet=0;FS=2.151;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.562;SOR=1.008	GT:AD:DP:GQ:PL	0/1:31,29:60:99:696,0,772	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	676.88	3	chr10	8074278	.	G	GA	676.88	.	AC=9;AF=0.9;AN=10;BaseQRankSum=1.98;DP=37;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.9;MQ=60;MQRankSum=0;QD=22.56;ReadPosRankSum=0.126;SOR=1.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,2:2:6:.:.:56,6,0:.	0	4	1	2
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	0.7857	3538.65	17	chr10	23193706	.	T	C	3538.65	.	AC=11;AF=0.786;AN=14;BaseQRankSum=1.13;DP=158;ExcessHet=1.1394;FS=1.841;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=23.75;ReadPosRankSum=0.227;SOR=0.526	GT:AD:DP:GQ:PL	1/1:0,26:26:78:815,78,0	0	4	3	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	2408.92	41	chr10	43114671	.	G	A	2408.92	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.31;DP=335;ExcessHet=0.4139;FS=1.182;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=13.16;ReadPosRankSum=-0.622;SOR=0.592	GT:AD:DP:GQ:PL	0/1:60,82:142:99:1976,0,1247	4	0	2	1
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	0.2857	4733.11	35	chr10	52771475	.	C	T	4733.11	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-1.59;DP=459;ExcessHet=0.0921;FS=0;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.352;SOR=0.692	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1410,0,1761	4	1	2	0
chr10	71798442	71798442	G	A	exonic	CDH23	.	synonymous SNV	CDH23:NM_001171933:exon3:c.G198A:p.L66L,CDH23:NM_001171934:exon3:c.G198A:p.L66L,CDH23:NM_022124:exon48:c.G6918A:p.L2306L	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1486	36	0	0	36	0.0119681	.	.	YES	55187	not_provided|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|not_specified|Usher_syndrome_type_1D	MedGen:C3661900|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0006	0.00479233	0.0036	0.0002	0.0011	0.0001	0	0.0015	0.0045	0.0188	0.003163	489	154602	rs146819206	0.0019	0.0019	0.0014	0.0024	0.0188	0.0018	0.0018	0.0181	0.0177	5.974e-05	0.0008	0.0068	2.519e-05	0.0001	0.0083	0.0006	0.0027	0.0188	0.0011	0.0012	0.0010	0.0013	0.0159	0.0010	0.0010	0.0131	0.0120	0.0001	0	0.0008	0.0058	0.0002	9.411e-05	0.0068	0.0008	0.0005	0.0159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004532	0.000000	0.001359	0.005848	0.050000	0.008621	0.003049	0.011364	0.2143	4253.74	33	chr10	71798442	.	G	A	4253.74	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1;DP=403;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=16.55;ReadPosRankSum=-0.791;SOR=0.705	GT:AD:DP:GQ:PL	0/1:91,66:157:99:1447,0,2057	5	1	1	0
chr10	71811550	71811550	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_001171933:exon17:c.G2518A:p.A840T,CDH23:NM_001171934:exon17:c.G2518A:p.A840T,CDH23:NM_022124:exon62:c.G9238A:p.A3080T	Deafness, autosomal recessive 12, Autosomal recessive;Usher syndrome, type 1D, Autosomal recessive, Digenic recessive;Usher syndrome, type 1D/F digenic, Autosomal recessive, Digenic recessive	0	1503	19	0	0	19	0.00628099	.	.	.	229903	Usher_syndrome_type_1|not_provided|not_specified|Usher_syndrome_type_1D|Autosomal_recessive_nonsyndromic_hearing_loss_12	MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.133	.	7.8e-05	0.00299521	0.0015	0	0.0005	0.0007	0	7.494e-05	0	0.0099	0.0013066	202	154602	rs369395479	0.0007	0.0007	0.0005	0.0010	0.0095	0.0007	0.0007	0.0090	0.0088	5.974e-05	0.0002	0	0.0005	0	0.0042	0.0001	0.0009	0.0095	0.0004	0.0004	0.0003	0.0004	0.0085	0.0003	0.0003	0.0064	0.0057	4.817e-05	0	0.0003	0	0.0004	0	0.0034	8.824e-05	0.0009	0.0085	0.316	0.13744	T	0.108	0.38891	T	0.016	0.17332	B	0.002	0.06944	B	0.000051	0.53742	D	0.072195	0.999902	0.50806	D	1.295	0.32453	L	0.24	0.59583	T	-1.79	0.42191	N	0.45	0.48780	-0.9216	0.45334	T	0.145	0.46859	T	10	0.008137375	0.00185	T	.	.	.	0.133	0.36157	.	.	0.777339287198	0.77529	0.7024125172313511	0.70182	0.174077167911	0.19599	0.457005262375	0.32900	T	0.016806	0.59237	T	-0.387317	0.02800	T	-0.321596	0.42400	T	0.0386353492225009	0.03444	T	0.816218	0.47186	T	0.051676724	0.09526	0.13800593	0.32971	0.04183747	0.06234	0.12340108	0.29756	-6.772	0.53299	T	.	.	0.107	0.20117	B	.;.;.;.	.;.;.;.	3.374855	0.46651	22.3	0.98528525038825709	0.42558	0.84584	0.43667	D	AEFDBCI	0.610479	0.59930	D	-0.255459950207905	0.30885	1.726467	-0.103550876891836	0.35246	2.036932	0.99999752825339	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.562822	0.20929	0	.	.	5.36	4.46	0.53567	5.805000	0.68809	8.594000	0.77699	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.895000	0.43227	0.0701:0.0:0.7984:0.1315	10.628	0.44712	787	0.46738	.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.2143	5824.79	33	chr10	71811550	.	G	A	5824.79	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.637;DP=434;ExcessHet=0;FS=2.372;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=20.88;ReadPosRankSum=-0.878;SOR=0.719	GT:AD:DP:GQ:PL	0/1:69,84:153:99:2131,0,1641	5	1	1	0
chr10	84196512	84196512	C	A	exonic	CDHR1	.	nonsynonymous SNV	CDHR1:NM_001171971:exon3:c.C159A:p.H53Q,CDHR1:NM_033100:exon3:c.C159A:p.H53Q	Cone-rod dystrophy 15, Autosomal recessive;Retinitis pigmentosa 65, Autosomal recessive	1	1434	83	4	0	91	0.0307536	.	.	.	311355	Cone-Rod_Dystrophy,_Recessive|not_provided	MedGen:CN239309|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.144	.	0.0277	0.019369	0.0271	0.0063	0.0288	0	0.0121	0.0366	0.0286	0.0205	0.0283437	4382	154602	rs12781048	0.0372	0.0372	0.0377	0.0367	0.0423	0.0369	0.0368	0.0416	0.0415	0.0067	0.0347	0.0321	5.038e-05	0.0148	0.0423	0.0419	0.0373	0.0214	0.0270	0.0270	0.0284	0.0255	0.0472	0.0263	0.0260	0.0444	0.0433	0.0079	0.0362	0.0472	0.0302	0.0006	0.0107	0.0374	0.0383	0.0388	0.0213	0.308	0.14111	T	0.403	0.17115	T	0.641	0.40421	P	0.268	0.39801	B	0.000015	0.62929	D	0.154450	0.981343	0.25046	N	0.205	0.09354	N	0.74	0.50459	T	-0.92	0.24676	N	0.055	0.05037	-0.9024	0.47739	T	0.011	0.04088	T	10	0.0019578338	0.00027	T	.	.	.	0.144	0.38394	0.331	0.31681	.	.	0.29565776148033995	0.29478	.	.	0.566160917282	0.48135	T	0.048686	0.28090	T	-0.659529	0.00063	T	-0.692281	0.06258	T	0.0209631022129474	0.00797	T	0.824018	0.48536	T	0.07863945	0.17920	0.123191066	0.29709	0.10534911	0.24908	0.123191066	0.29708	-8.307	0.63142	D	0.09224268079412712	0.05940	0.197	0.44643	B	.;.	.;.	-2.152051	0.00072	0.001	0.91846314731152934	0.21158	0.05838	0.11780	N	AEFDBHCI	0.063516	0.12278	N	-1.7516679423019	0.00674	0.02909864	-1.85243747483535	0.00605	0.02689948	0.999999879189793	0.74766	0.625279	0.40028	0	0.541168	0.11318	0	0.687403	0.62504	0	0.530356	0.10902	0	.	.	5.57	-11.1	0.00116	-3.401000	0.00537	-8.340000	0.00986	-1.579000	0.00922	0.000000	0.06391	0.000000	0.08366	0.718000	0.34707	0.0:0.7368:0.0:0.2632	23.509	0.99984	940	0.13648	Cadherin-like;.	CDHR1|CDHR1	Esophagus_Mucosa|Spleen	.	.	rs12781048	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	0.042296	0.025253	0.048913	0.058480	0.000000	0.094828	0.024390	0.026515	0.07143	2435.44	35	chr10	84196512	.	C	A	2435.44	.	AC=1;AF=0.071;AN=14;BaseQRankSum=3.6;DP=405;ExcessHet=0;FS=2.368;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.88;SOR=0.865	GT:AD:DP:GQ:PL	0/1:120,96:216:99:2446,0,2849	6	0	1	0
chr10	86668637	86668637	C	A	UTR5	LDB3	NM_001080116:c.-55C>A	.	.	Cardiomyopathy, dilated, 1C, with or without LVNC, Autosomal dominant;Cardiomyopathy, hypertrophic, 24, Autosomal dominant;Left ventricular noncompaction 3, Autosomal dominant;Myopathy, myofibrillar, 4, Autosomal dominant	1	1453	65	3	0	71	0.0238495	.	.	.	323578	not_provided|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_myopathy_4|Myofibrillar_Myopathy,_Dominant	MedGen:C3661900|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310|MONDO:MONDO:0012277,MedGen:C4721886,OMIM:609452,Orphanet:98912|MedGen:CN239446	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0028	0.00359425	.	.	.	.	.	.	.	.	0.0008215	127	154602	rs34972863	0.0043	0.0041	0.0038	0.0047	0.0164	0.0042	0.0041	0.0136	0.0126	0.0007	0.0022	0.0305	2.589e-05	7.696e-05	0.0164	0.0034	0.0057	0.0117	0.0032	0.0032	0.0030	0.0033	0.0108	0.0029	0.0028	0.0084	0.0076	0.0005	0	0.0019	0.0346	0	0	0.0238	0.0036	0.0038	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2143	828.67	37	chr10	86668637	.	C	A	828.67	.	AC=3;AF=0.214;AN=14;BaseQRankSum=0.251;DP=230;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=-2.283;SOR=0.613	GT:AD:DP:GQ:PL	0/1:30,29:59:99:662,0,663	5	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5518.63	1	chr10	90918983	.	AATAAATAAATATATATAT	A	5518.63	.	AC=4;AF=0.4;AN=10;BaseQRankSum=1.42;DP=181;ExcessHet=0.2119;FS=8.129;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26.9;ReadPosRankSum=2.12;SOR=0.132	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,39:45:99:0|1:90918983_AATAAATAAATATATATAT_A:1621,0,127:90918983	1	0	4	2
chr10	101694600	101694600	-	CCT	exonic	FBXW4	.	nonframeshift insertion	FBXW4:NM_022039:exon1:c.505_506insAGG:p.E168_A169insE	.	.	.	.	.	.	.	.	.	.	.	584602	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0048	0.00359425	0	0	0	0	0	0	0	0	0.0001164	18	154602	rs560966094	0.0006	0.0007	0.0007	0.0006	0.0143	0.0006	0.0006	0.0131	0.0127	0.0143	0.0007	0.0001	0.0014	0.0024	0.0009	0.0001	0.0021	0.0004	0.0043	0.0043	0.0042	0.0043	0.0132	0.0040	0.0039	0.0123	0.0119	0.0132	0	0.0024	0	0.0037	0.0012	0.0034	0.0004	0.0019	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32.23	22	chr10	101694600	.	G	GCCT	32.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-1.013;DP=136;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.875;SOR=0.188	GT:AD:DP:GQ:PL	0/1:14,2:16:42:42,0,570	5	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	2692.79	21	chr10	123053169	.	AT	A	2692.79	.	AC=12;AF=0.857;AN=14;BaseQRankSum=-0.229;DP=185;ExcessHet=0.3476;FS=1.039;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=22.25;ReadPosRankSum=-0.514;SOR=0.876	GT:AD:DP:GQ:PL	1/1:0,24:24:72:648,72,0	0	5	2	0
chr11	2140200	2140200	G	A	exonic	IGF2	.	stopgain	IGF2:NM_001127598:exon2:c.C97T:p.Q33X	.	416	1102	4	0	0	4	0.00181159	.	.	.	730756	not_provided|Inborn_genetic_diseases|Wilms_tumor_1|Beckwith-Wiedemann_syndrome|Silver-Russell_syndrome_1|Silver-Russell_syndrome_3	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070,Orphanet:654|MONDO:MONDO:0007534,MedGen:C0004903,OMIM:130650,Orphanet:116|MONDO:MONDO:0020796,MedGen:C5393125,OMIM:180860,Orphanet:813|MONDO:MONDO:0014663,MedGen:C4225307,OMIM:616489	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000798722	0.0007	0	0.0012	0	0.0003	0.0009	0	0.0009	0.0006792	105	154602	rs200441006	0.0011	0.0011	0.0011	0.0012	0.0013	0.0011	0.0011	0.0012	0.0012	8.964e-05	0.0008	0.0005	2.519e-05	7.55e-05	0.0003	0.0013	0.0010	0.0013	0.0007	0.0007	0.0007	0.0006	0.0014	0.0006	0.0005	0.0009	0.0008	0.0001	0	0.0014	0	0.0002	0.0002	0	0.0010	0.0014	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.566	0.58968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157435	0.69963	D	0.407817	0.92363	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	1.850866	0.23511	16.05	0.99691291202444132	0.79977	0.15169	0.18778	N	AEFDBHCI	0.119758	0.23360	N	0.409517858981619	0.61944	4.402692	0.0797033656612907	0.43530	2.652803	0.999571511099646	0.40495	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	1.9	0.928	0.18569	1.099000	0.30625	1.455000	0.26636	0.504000	0.22967	0.033000	0.20612	0.903000	0.28003	0.987000	0.62547	0.2462:0.0:0.7538:0.0	3.812	0.08316	988	0.01987	.	.	.	.	.	.	Uncertain significance	1	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	0.001008	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003788	0.1429	2107.24	37	chr11	2140200	.	G	A	2107.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.28;DP=406;ExcessHet=0.3476;FS=3.565;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=8.5;ReadPosRankSum=0.744;SOR=0.505	GT:AD:DP:GQ:PL	0/1:80,60:140:99:1196,0,1836	5	0	2	0
chr11	2159830	2159830	T	G	UTR3	INS	NM_001185098:c.*22A>C;NM_000207:c.*22A>C;NM_001185097:c.*22A>C;NM_001291897:c.*22A>C	.	.	Diabetes mellitus, insulin-dependent, 2, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Hyperproinsulinemia, Autosomal dominant;Maturity-onset diabetes of the young, type 10, Autosomal dominant	21	72	439	990	0	2419	0.943816	.	.	.	326978	Maturity-onset_diabetes_of_the_young_type_10|Type_1_diabetes_mellitus_2|Autosomal_recessive_DOPA_responsive_dystonia|Diabetes_mellitus,_permanent_neonatal_4|Transient_Neonatal_Diabetes,_Dominant/Recessive|Diabetes_mellitus_type_1|not_provided|Hyperproinsulinemia|Maturity_onset_diabetes_mellitus_in_young	MONDO:MONDO:0013240,MedGen:C3150617,OMIM:613370,Orphanet:552|MONDO:MONDO:0007454,MedGen:C1852092,OMIM:125852|MONDO:MONDO:0011551,MedGen:C2673535,OMIM:605407,Orphanet:101150|MONDO:MONDO:0030089,MedGen:C5394307,OMIM:618858|MedGen:CN239353|Human_Phenotype_Ontology:HP:0100651,MONDO:MONDO:0005147,MedGen:C0011854,OMIM:222100|MedGen:C3661900|MONDO:MONDO:0014535,MedGen:C0342283,OMIM:616214|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.164	.	0.5476	0.649161	0.7378	0.2764	0.7859	0.9533	0.8067	0.7306	0.7533	0.8444	0.0242431	631	26028	rs3842753	0.7205	0.7203	0.7162	0.7248	0.9584	0.7193	0.7188	0.9503	0.9470	0.2412	0.7619	0.7051	0.9584	0.7934	0.7900	0.7134	0.7161	0.8271	0.6102	0.6099	0.5977	0.6233	0.9488	0.6069	0.6055	0.9266	0.9175	0.2600	0.6623	0.7248	0.7098	0.9488	0.7927	0.7979	0.7192	0.6749	0.8312	0.232	0.18184	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	P	.	.	.	-4.58	0.97812	D	0.19	0.04947	N	.	.	-0.8935	0.48623	T	0.000	0.00011	T	5	8.279031e-07	0.00003	T	.	.	.	0.164	0.42212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.339871	0.05397	T	-0.117157	0.62034	T	0.00906828145393925	0.00114	T	0.150785	0.01278	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00109	B	.	.	-0.107331	0.03596	0.704	0.45144910119490655	0.03522	0.00072	0.00504	N	AEFDBI	0.035797	0.04666	N	-1.16828247985444	0.05485	0.2502013	-1.43662767592952	0.02893	0.1339553	0.973550985092474	0.29466	0.403107	0.06075	0	0.578056	0.33634	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.76	0.04074	1.046000	0.29964	-4.087000	0.02350	-3.387000	0.00090	0.110000	0.22992	0.000000	0.08366	0.000000	0.00833	0.1391:0.4576:0.2174:0.1858	2.503	0.04356	988	0.01987	Insulin-like	IGF2-AS|TH|IGF2	Liver|Thyroid|Whole_Blood	.	.	rs3842753	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.7857	13545.1	83	chr11	2159830	.	T	G	13545.1	.	AC=11;AF=0.786;AN=14;BaseQRankSum=0.117;DP=679;ExcessHet=1.1394;FS=1.243;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=20.37;ReadPosRankSum=1.65;SOR=0.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,45:119:99:.:.:1079,0,1749:.	0	4	3	0
chr11	17276578	17276578	C	G	upstream	NUCB2	dist=136	.	.	.	1177	165	27	153	0	333	0.502262	.	.	.	132617	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.665136	.	.	.	.	.	.	.	.	0.611226	15909	26028	rs214088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6236	0.6237	0.6233	0.6239	0.8166	0.6202	0.6189	0.7960	0.7876	0.6476	0.6747	0.6715	0.6983	0.8166	0.5278	0.6156	0.5913	0.6627	0.6438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	343.05	2	chr11	17276578	.	C	G	343.05	.	AC=6;AF=0.6;AN=10;DP=18;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;QD=31.7;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,4:4:12:1|1:17276557_A_C:180,12,0:17276557	2	3	0	2
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	.	.	.	.	.	.	.	.	0.8571	8772.06	30	chr11	17386857	.	C	T	8772.06	.	AC=12;AF=0.857;AN=14;BaseQRankSum=0;DP=312;ExcessHet=0.3476;FS=0;MLEAC=12;MLEAF=0.857;MQ=60;MQRankSum=0;QD=28.95;ReadPosRankSum=-1.068;SOR=0.825	GT:AD:DP:GQ:PL	1/1:0,60:60:99:1845,180,0	0	5	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	5191.26	31	chr11	17395957	.	A	G	5191.26	.	AC=9;AF=0.75;AN=12;BaseQRankSum=1.85;DP=219;ExcessHet=0;FS=5.611;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=30.18;ReadPosRankSum=-0.829;SOR=0.18	GT:AD:DP:GQ:PL	1/1:1,45:46:99:1443,128,0	1	4	1	1
chr11	17396823	17396823	C	A	intronic	ABCC8	.	.	.	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	16	869	514	123	0	760	0.304243	.	.	.	1166870	Maturity_onset_diabetes_mellitus_in_young|Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|Hyperinsulinemic_hypoglycemia,_familial,_1|Diabetes_mellitus,_permanent_neonatal_3|not_provided	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552|Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.215855	.	.	.	.	.	.	.	.	0.0387317	5988	154602	rs4148644	0.1966	0.1974	0.1962	0.1971	0.2811	0.1960	0.1958	0.2762	0.2742	0.2811	0.1956	0.2030	0.0815	0.1224	0.2608	0.1993	0.1943	0.2164	0.2111	0.2113	0.2172	0.2047	0.2771	0.2092	0.2084	0.2729	0.2711	0.2771	0.1327	0.2051	0.1967	0.0754	0.1226	0.2177	0.1980	0.2055	0.2143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	2801.53	9	chr11	17396823	.	C	A	2801.53	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.12;DP=103;ExcessHet=0;FS=3.435;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.62;ReadPosRankSum=-0.7;SOR=2.33	GT:AD:DP:GQ:PL	1/1:0,20:20:60:716,60,0	3	3	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	759.85	.	chr11	17414293	.	A	G	759.85	.	AC=7;AF=0.7;AN=10;BaseQRankSum=-1.354;DP=42;ExcessHet=0;FS=0;MLEAC=8;MLEAF=0.8;MQ=60;MQRankSum=0;QD=23.03;ReadPosRankSum=0.481;SOR=0.569	GT:AD:DP:GQ:PL	1/1:0,10:10:30:318,30,0	1	3	1	2
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	1806.31	8	chr11	17414389	.	G	A	1806.31	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.869;DP=132;ExcessHet=2.3007;FS=5.382;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=17.04;ReadPosRankSum=0.276;SOR=1.473	GT:AD:DP:GQ:PL	0/1:9,16:25:99:446,0,266	1	1	4	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	2702.67	17	chr11	17414419	.	G	A	2702.67	.	AC=8;AF=0.571;AN=14;BaseQRankSum=-0.719;DP=210;ExcessHet=1.4958;FS=0.661;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=0.696;SOR=0.807	GT:AD:DP:GQ:PL	0/1:15,22:37:99:614,0,404	1	2	4	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	5630.32	33	chr11	17415389	.	A	G	5630.32	.	AC=10;AF=0.714;AN=14;BaseQRankSum=1.02;DP=295;ExcessHet=0.0921;FS=0;MLEAC=10;MLEAF=0.714;MQ=60;MQRankSum=0;QD=22.08;ReadPosRankSum=-0.28;SOR=0.66	GT:AD:DP:GQ:PL	1/1:0,48:48:99:1382,144,0	1	4	2	0
chr11	17428382	17428382	C	T	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon14:c.G1947A:p.K649K,ABCC8:NM_001287174:exon14:c.G1947A:p.K649K,ABCC8:NM_001351295:exon14:c.G2013A:p.K671K,ABCC8:NM_001351296:exon14:c.G1944A:p.K648K,ABCC8:NM_001351297:exon14:c.G1944A:p.K648K	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	1120	365	36	0	437	0.163242	.	.	YES	167534	Permanent_neonatal_diabetes_mellitus|Type_2_diabetes_mellitus|not_specified|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Diabetes_mellitus,_transient_neonatal,_2|Leucine-induced_hypoglycemia|not_provided|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MedGen:CN169374|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MedGen:C3661900|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1567	0.202077	0.1785	0.1816	0.1202	0.1671	0.1980	0.1587	0.1689	0.2962	0.173064	26756	154602	rs1799858	0.1599	0.1599	0.1565	0.1632	0.2802	0.1593	0.1591	0.2773	0.2760	0.1811	0.1311	0.1863	0.1992	0.1981	0.1185	0.1471	0.1660	0.2802	0.1659	0.1663	0.1609	0.1712	0.2891	0.1642	0.1635	0.2764	0.2713	0.1777	0.1187	0.1581	0.1907	0.1991	0.1888	0.0918	0.1457	0.1552	0.2891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.123867	0.075758	0.101902	0.160819	0.050000	0.129310	0.094512	0.174242	0.3333	2416.73	51	chr11	17428382	.	C	T	2416.73	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.275;DP=299;ExcessHet=3.1439;FS=3.785;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=1.42;SOR=0.498	GT:AD:DP:GQ:PL	0/1:37,31:68:99:780,0,932	2	0	4	1
chr11	17430945	17430945	G	A	exonic	ABCC8	.	synonymous SNV	ABCC8:NM_000352:exon12:c.C1686T:p.H562H,ABCC8:NM_001287174:exon12:c.C1686T:p.H562H,ABCC8:NM_001351295:exon12:c.C1686T:p.H562H,ABCC8:NM_001351296:exon12:c.C1683T:p.H561H,ABCC8:NM_001351297:exon12:c.C1683T:p.H561H	Diabetes mellitus, noninsulin-dependent, Autosomal dominant;Diabetes mellitus, permanent neonatal, Autosomal dominant;Diabetes mellitus, transient neonatal 2;Hyperinsulinemic hypoglycemia, familial, 1, Autosomal recessive, Autosomal dominant;Hypoglycemia of infancy, leucine-sensitive, Autosomal dominant	8	536	705	273	0	1251	0.538528	.	.	.	167532	Permanent_neonatal_diabetes_mellitus|not_provided|Hereditary_hyperinsulinism|Diabetes_mellitus,_permanent_neonatal_3|Cerebral_edema|not_specified|Leucine-induced_hypoglycemia|Diabetes_mellitus,_transient_neonatal,_2|Hyperinsulinemic_hypoglycemia,_familial,_1	MONDO:MONDO:0100164,MedGen:C1833104,OMIM:PS606176,Orphanet:99885|MedGen:C3661900|.|MONDO:MONDO:0030088,MedGen:C5394303,OMIM:618857|Human_Phenotype_Ontology:HP:0002181,MONDO:MONDO:0006684,MedGen:C0006114|MedGen:CN169374|MONDO:MONDO:0009415,MedGen:C0271714,OMIM:240800|MONDO:MONDO:0012480,MedGen:C1835887,OMIM:610374,Orphanet:99886|MONDO:MONDO:0009734,MedGen:C2931832,OMIM:256450,Orphanet:276575,Orphanet:276598	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4587	0.429912	0.4311	0.4812	0.3021	0.2844	0.4180	0.4470	0.4546	0.5041	0.426075	65872	154602	rs1799857	0.4459	0.4459	0.4447	0.4471	0.4959	0.4450	0.4446	0.4920	0.4904	0.4747	0.3195	0.4445	0.3087	0.4107	0.4108	0.4535	0.4380	0.4959	0.4417	0.4417	0.4437	0.4395	0.4867	0.4389	0.4377	0.4745	0.4722	0.4801	0.3516	0.3803	0.4438	0.3002	0.4127	0.3537	0.4459	0.4296	0.4867	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.414560	0.333333	0.405995	0.438596	0.500000	0.500000	0.393293	0.431298	0.6429	14305.1	100	chr11	17430945	.	G	A	14305.1	.	AC=9;AF=0.643;AN=14;BaseQRankSum=-0.269;DP=617;ExcessHet=0;FS=0;MLEAC=9;MLEAF=0.643;MQ=60;MQRankSum=0;QD=25.5;ReadPosRankSum=0.118;SOR=0.716	GT:AD:DP:GQ:PL	1/1:0,131:131:99:3750,393,0	2	4	1	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	0.4286	14186.4	33	chr11	17474969	.	A	G	14186.4	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.869;DP=916;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=17.89;ReadPosRankSum=-0.712;SOR=0.728	GT:AD:DP:GQ:PL	0/1:157,109:266:99:2442,0,3906	3	2	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2244.09	22	chr11	65557854	.	C	CCAGCAG	2244.09	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.583;DP=235;ExcessHet=0.0921;FS=0;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=33;ReadPosRankSum=0.289;SOR=1.077	GT:AD:DP:GQ:PL	0/1:3,12:15:91:446,0,91	4	0	3	0
chr11	74457538	74457538	G	A	exonic	KCNE3	.	nonsynonymous SNV	KCNE3:NM_005472:exon3:c.C26T:p.T9I	Brugada syndrome 6	0	1518	4	0	0	4	0.00131579	.	.	.	258710	Brugada_syndrome_6|Long_QT_syndrome|Cardiovascular_phenotype	MONDO:MONDO:0013145,MedGen:C2751089,OMIM:613119,Orphanet:130|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.124	0.0267559069532	0.0002	.	0.0002	9.653e-05	8.642e-05	0	0	0.0003	0	6.057e-05	0.0001617	25	154602	rs139040374	0.0001	0.0001	9.529e-05	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	5.974e-05	6.708e-05	0	0	0	0.0017	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	0.0002	8.169e-05	6.725e-05	0.0001	0.0001	2.413e-05	0	0.0001	0	0	0	0	0.0002	0	0.0002	0.071	0.52492	T	0.179	0.29540	T	0.041	0.21357	B	0.015	0.17295	B	0.561158	0.11335	N	0.806061	1	0.08975	N	0.55	0.14455	N	-2.09	0.86077	D	-0.66	0.89534	N	0.259	0.32812	-0.7180	0.59561	T	0.339	0.70502	T	10	0.077046394	0.12111	T	0.026756	0.49639	D	0.124	0.34239	.	.	0.842738283887	0.84123	0.8148004908988197	0.81436	0.132197858342	0.14900	0.461262345314	0.33483	T	0.287223	0.66002	T	-0.223537	0.17512	T	-0.258548	0.48970	T	0.00429971718736215	0.00046	T	0.649735	0.35288	T	0.054364745	0.10421	0.069366604	0.14604	0.054364745	0.10421	0.069366604	0.14604	-4.537	0.31369	T	.	.	0.091	0.19919	B	.;.;.;.;.;.	.;.;.;.;.;.	1.684652	0.21469	15.21	0.97107884507457742	0.32396	0.12929	0.17563	N	AEFBI	0.196612	0.32358	N	-0.784892234640227	0.13703	0.6769653	-0.727642280185664	0.16274	0.8601162	0.999886713030585	0.44867	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.94	3.07	0.34476	1.714000	0.37580	3.891000	0.40294	0.676000	0.76740	0.099000	0.22773	0.997000	0.33255	0.844000	0.39860	0.1811:0.0:0.6452:0.1736	4.615	0.11808	460	0.78750	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	1655.46	34	chr11	74457538	.	G	A	1655.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.43;DP=304;ExcessHet=0;FS=5.682;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.221;SOR=0.59	GT:AD:DP:GQ:PL	0/1:55,64:119:99:1666,0,1233	6	0	1	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	0.3571	2797.71	20	chr11	89284793	.	G	A	2797.71	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.13;DP=206;ExcessHet=0.4813;FS=0.648;MLEAC=5;MLEAF=0.357;MQ=59.89;MQRankSum=0;QD=16.85;ReadPosRankSum=0.225;SOR=0.613	GT:AD:DP:GQ:PL	0/1:21,23:44:99:501,0,440	3	1	3	0
chr11	103236469	103236469	A	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon63:c.A9749G:p.Q3250R,DYNC2H1:NM_001377:exon63:c.A9749G:p.Q3250R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	11	1492	18	1	0	20	0.00665779	.	.	.	195492	Asphyxiating_thoracic_dystrophy_3|not_provided|Short_rib-polydactyly_syndrome|not_specified|Jeune_thoracic_dystrophy	MONDO:MONDO:0013127,MedGen:C0036069,OMIM:613091,Orphanet:474,Orphanet:93269,Orphanet:93270,Orphanet:93271|MedGen:C3661900|MONDO:MONDO:0015461,MedGen:C0036996,Orphanet:1505|MedGen:CN169374|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.174	.	0.0012	0.00239617	0.0029	0.0002	0.0009	0	0	0.0022	0.0022	0.0116	0.002652	410	154602	rs140830294	0.0023	0.0024	0.0021	0.0026	0.0115	0.0023	0.0022	0.0109	0.0106	0.0002	0.0011	0.0131	0	0.0002	0.0112	0.0016	0.0031	0.0115	0.0019	0.0019	0.0020	0.0017	0.0114	0.0017	0.0016	0.0090	0.0081	0.0003	0	0.0026	0.0138	0	0.0002	0.0068	0.0017	0.0038	0.0114	0.282	0.19430	T	0.552	0.09393	T	0.065	0.37483	B	0.056	0.39069	B	0.000457	0.44317	D	0.198629	0.999991	0.81001	D	0.875	0.21512	L	1.65	0.38883	T	-2.25	0.50337	N	0.51	0.57946	-1.0627	0.11093	T	0.092	0.35119	T	10	0.009339243	0.00211	T	.	.	.	0.174	0.44019	.	.	0.716290961394	0.71379	0.6241017257502343	0.62343	0.0691000608039	0.07735	0.715855002403	0.69442	T	0.171879	0.52016	T	-0.361006	0.04073	T	-0.281941	0.46606	T	0.0231418284931443	0.01040	T	0.863414	0.55914	D	0.45513895	0.64367	0.37592888	0.62726	0.4375642	0.63245	0.43919477	0.67280	-9.413	0.70316	D	0.39480278463588137	0.48747	0.273	0.54529	B	.;.;.;.	.;.;.;.	3.637035	0.51552	23.1	0.996764475609072	0.78977	0.98797	0.86978	D	AEFI	0.909330	0.86581	D	0.186195066284451	0.50537	3.242698	0.36461638688929	0.59393	4.116746	0.99924527578784	0.38873	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.69	5.69	0.88346	8.800000	0.91521	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.990	0.79993	603	0.67726	.;.;.;.	.	.	.	.	.	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	0.008065	0.000000	0.008152	0.017647	0.050000	0.008621	0.000000	0.007576	0.1429	1215.04	34	chr11	103236469	.	A	G	1215.04	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.269;DP=231;ExcessHet=0.3476;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.641;SOR=0.669	GT:AD:DP:GQ:PL	0/1:20,30:50:99:669,0,411	5	0	2	0
chr11	121187967	121187967	C	T	exonic	TBCEL-TECTA;TECTA	.	synonymous SNV	TECTA:NM_005422:exon21:c.C6135T:p.C2045C,TBCEL-TECTA:NM_001378761:exon27:c.C7077T:p.C2359C	.	.	.	.	.	.	.	.	.	.	.	312852	Autosomal_recessive_nonsyndromic_hearing_loss_21|Autosomal_dominant_nonsyndromic_hearing_loss_12|not_provided	MONDO:MONDO:0011351,MedGen:C1863655,OMIM:603629,Orphanet:90636|MONDO:MONDO:0011102,MedGen:C1832187,OMIM:601543,Orphanet:90635|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	0.000199681	9.9e-05	0	8.648e-05	0.0007	0	6.003e-05	0	6.065e-05	8.41e-05	13	154602	rs139552118	0.0001	0.0001	0.0001	9.901e-05	0.0002	8.915e-05	8.399e-05	0.0001	8.785e-05	0	0.0001	0	0.0002	3.744e-05	0.0002	0.0001	0.0001	3.478e-05	7.223e-05	7.218e-05	7.71e-05	6.713e-05	0.0002	3.968e-05	3.125e-05	3.762e-05	2.575e-05	2.406e-05	0	0.0001	0	0.0002	0	0	8.82e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.1429	1840.65	34	chr11	121187967	.	C	T	1840.65	.	AC=2;AF=0.143;AN=14;BaseQRankSum=0.585;DP=304;ExcessHet=0.3476;FS=3.742;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=0.969;SOR=0.461	GT:AD:DP:GQ:PL	0/1:40,38:78:99:901,0,880	5	0	2	0
chr12	6018369	6018369	T	G	exonic	VWF	.	synonymous SNV	VWF:NM_000552:exon28:c.A5049C:p.A1683A	von Willebrand disease, type 1, Autosomal dominant;von Willebrand disease, types 2A, 2B, 2M, and 2N, Autosomal recessive, Autosomal dominant;von Willibrand disease, type 3, Autosomal recessive	0	780	740	2	0	744	0.322917	.	.	.	266166	not_provided|not_specified|von_Willebrand_disease_type_2|Hereditary_von_Willebrand_disease|von_Willebrand_disease_type_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0019565,MeSH:D014842,MedGen:C5703318,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022509	348	154602	rs79275181	0.0541	0.1753	0.0514	0.0568	0.1039	0.0537	0.0535	0.0948	0.0912	0.0354	0.0602	0.0362	0.0427	0.0518	0.1039	0.0556	0.0445	0.0580	0.0156	0.0580	0.0139	0.0174	0.0276	0.0150	0.0148	0.0233	0.0217	0.0133	0.0179	0.0169	0.0164	0.0276	0.0176	0	0.0152	0.0178	0.0195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	.	.	.	.	.	.	.	.	0.3571	812.73	18	chr12	6018369	.	T	G	812.73	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.411;DP=213;ExcessHet=4.7409;FS=6.291;MLEAC=5;MLEAF=0.357;MQ=55.2;MQRankSum=-5.884;QD=4.32;ReadPosRankSum=1.58;SOR=0.36	GT:AD:DP:GQ:PL	0/1:28,15:43:99:257,0,696	2	0	5	0
chr12	6936729	6936749	CAGCAGCAGCAGCAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1462_1482del:p.Q496_Q502del,ATN1:NM_001940:exon5:c.1462_1482del:p.Q496_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	129	452	137	68	736	1009	0.231946	.	.	.	905935	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005763	15	26028	rs1183228329	0.1140	0.1129	0.1133	0.1147	0.2024	0.1135	0.1133	0.1928	0.1889	0.0599	0.0711	0.1307	0.0196	0.0770	0.2024	0.1208	0.1141	0.1206	0.0965	0.0952	0.0980	0.0949	0.1252	0.0952	0.0946	0.1187	0.1178	0.0594	0.1881	0.0938	0.1362	0.0278	0.0722	0.2083	0.1209	0.1186	0.1252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	10575.4	39	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	A	10575.4	.	AC=4;AF=0.286;AN=14;BaseQRankSum=-0.681;DP=399;ExcessHet=0.3476;FS=6.639;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=34.22;ReadPosRankSum=0.839;SOR=0.751	GT:AD:DP:GQ:PL	1/1:0,57:57:99:2528,174,0	5	2	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	1593.15	6	chr12	7190512	.	GGCCTCTGAGGCAGTGAGTGTTCTTGAGGTGGAAAGCCCAGGTGCA	G	1593.15	.	AC=6;AF=0.429;AN=14;DP=218;ExcessHet=0;FS=0;MLEAC=6;MLEAF=0.429;MQ=59.37;QD=30.3;SOR=1.547	GT:AD:DP:GQ:PL	1/1:0,16:16:58:704,58,0	4	3	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	2310.01	23	chr12	21174718	.	T	TA	2310.01	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-0.368;DP=261;ExcessHet=1.4958;FS=0;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=1.71;SOR=0.671	GT:AD:DP:GQ:PL	0/1:11,12:23:99:225,0,212	2	0	5	0
chr12	21910317	21910317	-	A	intronic	ABCC9	.	.	.	Atrial fibrillation, familial, 12, Autosomal dominant;Cardiomyopathy, dilated, 1O;Hypertrichotic osteochondrodysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	54552	not_provided|Dilated_Cardiomyopathy,_Dominant|Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified|Hypertrichotic_osteochondrodysplasia_Cantu_type|Familial_atrial_fibrillation	MedGen:C3661900|MedGen:CN239310|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0012062,MedGen:C1837839,OMIM:608569,Orphanet:154|MedGen:CN169374|MONDO:MONDO:0009406,MedGen:C0795905,OMIM:239850,Orphanet:1517|MONDO:MONDO:0018054,MedGen:C3468561,OMIM:PS608583,Orphanet:334	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0432	0.0626	0.0248	0.0504	0.0313	0.0394	0.0651	0.0612	0.0001153	3	26028	rs397517182	0.0468	0.0641	0.0466	0.0470	0.0796	0.0465	0.0464	0.0768	0.0756	0.0796	0.0411	0.0768	0.0586	0.0312	0.0791	0.0435	0.0548	0.0677	0.0267	0.0256	0.0261	0.0272	0.0465	0.0259	0.0256	0.0445	0.0437	0.0465	0.1444	0.0290	0.0405	0.0116	0.0065	0.0773	0.0160	0.0326	0.0255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	573.93	10	chr12	21910317	.	C	CA	573.93	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.723;DP=127;ExcessHet=3.1439;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=8.32;ReadPosRankSum=-0.707;SOR=0.808	GT:AD:DP:GQ:PL	0/1:8,14:26:84:270,0,195	5	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	1665.97	9	chr12	47845054	.	C	A	1665.97	.	AC=9;AF=0.75;AN=12;BaseQRankSum=-1.02;DP=78;ExcessHet=1.383;FS=0;MLEAC=10;MLEAF=0.833;MQ=60;MQRankSum=0;QD=21.92;ReadPosRankSum=0.386;SOR=0.749	GT:AD:DP:GQ:PL	0/1:6,6:12:99:169,0,162	0	3	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	0.7857	5938.36	31	chr12	47879112	.	A	G	5938.36	.	AC=11;AF=0.786;AN=14;BaseQRankSum=0.373;DP=289;ExcessHet=0;FS=1.663;MLEAC=11;MLEAF=0.786;MQ=60;MQRankSum=0;QD=24.85;ReadPosRankSum=-1.167;SOR=0.957	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1664,177,0	1	5	1	0
chr12	55693209	55693209	C	T	exonic	ITGA7	.	nonsynonymous SNV	ITGA7:NM_001367994:exon19:c.G1300A:p.E434K,ITGA7:NM_001144996:exon20:c.G2656A:p.E886K,ITGA7:NM_001144997:exon20:c.G2365A:p.E789K,ITGA7:NM_001374465:exon20:c.G2626A:p.E876K,ITGA7:NM_002206:exon20:c.G2644A:p.E882K,ITGA7:NM_001367993:exon21:c.G2317A:p.E773K	Muscular dystrophy, congenital, due to ITGA7 deficiency, Autosomal recessive	1	1484	35	2	0	39	0.0129697	.	.	.	99943	not_provided|ITGA7-related_disorder|Congenital_muscular_dystrophy_due_to_integrin_alpha-7_deficiency|not_specified	MedGen:C3661900|.|MONDO:MONDO:0013177,MedGen:C2750786,OMIM:613204,Orphanet:34520|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.165	.	0.0028	0.00119808	0.0040	0.0009	0.0021	0.0001	0.0009	0.0060	0.0132	0.0019	0.0038357	593	154602	rs144983062	0.0036	0.0036	0.0035	0.0037	0.0199	0.0035	0.0035	0.0170	0.0159	0.0011	0.0026	0.0282	2.519e-05	0.0007	0.0199	0.0033	0.0056	0.0027	0.0034	0.0035	0.0036	0.0032	0.0041	0.0032	0.0031	0.0036	0.0035	0.0008	0.0088	0.0041	0.0308	0	0.0005	0.0136	0.0040	0.0099	0.0023	0.099	0.30800	T	0.537	0.15746	T	0.307	0.32716	B	0.316	0.42592	B	0.030206	0.25342	N	0.401896	0.886497	0.35859	D	1.84	0.48285	L	0.78	0.49358	T	-1.8	0.42957	N	0.682	0.71942	-0.8686	0.50635	T	0.149	0.47610	T	10	0.00966835	0.00218	T	.	.	.	0.165	0.42395	.	.	0.446410834509	0.44261	0.3873274616763816	0.38647	0.553777361804	0.52138	0.650003910065	0.59987	T	0.014438	0.43425	T	-0.294246	0.09214	T	-0.194624	0.55155	T	0.023265311468717	0.01055	T	0.89671	0.63922	D	0.121053405	0.28473	0.12380122	0.29848	0.120533876	0.28361	0.1123319	0.27102	-7.277	0.57165	T	.	.	0.136	0.29697	B	.;.;.;.;.	.;.;.;.;.	3.828538	0.55324	23.6	0.99877453271086847	0.95410	0.59895	0.31042	D	AEFGBI	0.244218	0.36536	N	0.0116875107614855	0.42385	2.552875	0.10039628931083	0.44569	2.736162	0.969611658293391	0.29142	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	4.83	4.83	0.61880	2.603000	0.45930	.	.	0.545000	0.25583	0.993000	0.37899	1.000000	0.68203	0.916000	0.45140	0.0:0.8212:0.1788:0.0	11.718	0.50929	735	0.53711	.;.;Integrin alpha-2;.;Integrin alpha-2	.	.	.	.	.	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	0.014602	0.020202	0.014946	0.011696	0.000000	0.043103	0.009146	0.003788	0.08333	1292.27	34	chr12	55693209	.	C	T	1292.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.284;DP=275;ExcessHet=0;FS=0.737;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.43;ReadPosRankSum=1.09;SOR=0.764	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1302,0,995	5	0	1	1
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	0.5833	5498.25	41	chr12	120978819	.	C	G	5498.25	.	AC=7;AF=0.583;AN=12;BaseQRankSum=0.436;DP=401;ExcessHet=0.7136;FS=0.388;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=0.066;SOR=0.677	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2526,255,0	1	2	3	1
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	.	.	.	.	.	.	.	.	0.4286	10290.5	99	chr12	120997672	.	G	A	10290.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=0.119;DP=595;ExcessHet=0.0509;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=20.75;ReadPosRankSum=0.472;SOR=0.682	GT:AD:DP:GQ:PL	1/1:0,159:159:99:4720,476,0	3	2	2	0
chr13	113118845	113118845	G	A	exonic	F7	.	nonsynonymous SNV	F7:NM_001267554:exon6:c.G986A:p.R329Q,F7:NM_019616:exon8:c.G1172A:p.R391Q,F7:NM_000131:exon9:c.G1238A:p.R413Q	Factor VII deficiency, Autosomal recessive	0	910	520	92	0	704	0.278922	.	.	YES	27119	not_provided|not_specified|Factor_VII_deficiency|Myocardial_infarction,_decreased_susceptibility_to|Factor_X_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0002244,MeSH:D005168,MedGen:C0015503|.|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.188	.	0.11	0.138379	0.1341	0.1259	0.1018	0.0533	0.0751	0.1210	0.1437	0.2757	0.125995	19479	154602	rs6046	0.1165	0.1164	0.1107	0.1223	0.2761	0.1160	0.1158	0.2732	0.2720	0.1225	0.1074	0.1911	0.0599	0.0736	0.2135	0.1056	0.1239	0.2761	0.1163	0.1164	0.1162	0.1165	0.2740	0.1149	0.1143	0.2618	0.2568	0.1210	0.1725	0.1158	0.2056	0.0477	0.0697	0.1803	0.1088	0.1317	0.2740	0.228	0.26519	T	0.165	0.30926	T	0.254	0.32525	B	0.005	0.13708	B	0.521729	0.11734	N	0.744753	1	0.08975	P	0.615	0.15706	N	-1.51	0.81399	D	-1.16	0.29727	N	0.085	0.06190	-1.1082	0.03229	T	0.005	0.01688	T	9	0.003981173	0.00077	T	.	.	.	0.188	0.46444	.	.	.	.	0.4174972918572176	0.41665	0.218615771125	0.24401	0.259455680847	0.04827	T	0.414242	0.76786	T	-0.531236	0.00378	T	-0.39204	0.34312	T	0.0032045131440866	0.00034	T	0.60024	0.22396	T	0.28302434	0.51337	0.20696844	0.44935	0.22008178	0.44555	0.15338038	0.36043	-4.203	0.26795	T	0.14956450594880755	0.17500	0.070	0.05060	B	.;.;.	.;.;.	0.864100	0.12365	8.904	0.9372641218980059	0.23653	0.01261	0.04425	N	AEFDBI	0.454247	0.50704	N	-1.30176004106169	0.03655	0.1636765	-1.42064976557785	0.03046	0.1413473	0.992292572482251	0.32788	0.514905	0.20481	0	0.547309	0.14657	0	0.603688	0.36954	0	0.613276	0.41899	0	.	.	4.11	-4.6	0.03148	-0.090000	0.11129	-0.358000	0.09695	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.5017:0.0:0.3766:0.1217	5.957	0.18512	988	0.01987	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	F7|F7|F10|F10|F10|F7|F7|F7|F7|F7|F7|F7|F10|F7|F10|F7|F7|F10|F7|F10|F7|F7|F10|F7|F7|F10|F10|F7|F10|F7|F7|F10|F7|F7|F7|F7|F7|F7|F10	Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Ovary|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Stomach|Thyroid|Thyroid	MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L|MCF2L	Adipose_Subcutaneous|Artery_Tibial|Colon_Transverse|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Atrial_Appendage|Lung|Nerve_Tibial|Skin_Sun_Exposed_Lower_leg	rs6046	Benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.189325	0.080808	0.174387	0.211765	0.100000	0.215517	0.189024	0.238636	0.3571	9626.11	126	chr13	113118845	.	G	A	9626.11	.	AC=5;AF=0.357;AN=14;BaseQRankSum=1.82;DP=923;ExcessHet=4.7409;FS=0;MLEAC=5;MLEAF=0.357;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.073;SOR=0.725	GT:AD:DP:GQ:PL	0/1:112,102:214:99:2340,0,2524	2	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	2785.65	53	chr14	23389062	.	AG	A	2785.65	.	AC=2;AF=0.167;AN=12;BaseQRankSum=1.77;DP=271;ExcessHet=0.1336;FS=9.963;MLEAC=2;MLEAF=0.167;MQ=59.97;MQRankSum=0;QD=24.01;ReadPosRankSum=0.485;SOR=1.249	GT:AD:DP:GQ:PL	0/1:15,27:42:99:647,0,303	4	0	2	1
chr14	45159081	45159082	TA	-	intronic	FANCM	.	.	.	.	112	1082	255	73	0	401	0.156335	.	.	.	254944	not_specified|not_provided|Premature_ovarian_failure_15|Spermatogenic_failure_28|Fanconi_anemia	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.1649	0.118211	0.2866	0.1333	0.3837	0.3597	0.2824	0.2839	0.3018	0.2884	0.0001153	3	26028	rs112326758	0.1122	0.1201	0.1094	0.1149	0.1935	0.1117	0.1115	0.1908	0.1897	0.0401	0.1465	0.1445	0.1311	0.1270	0.1417	0.1046	0.1161	0.1935	0.0911	0.0910	0.0895	0.0928	0.1830	0.0898	0.0893	0.1730	0.1690	0.0383	0.1634	0.1126	0.1321	0.1180	0.1093	0.1103	0.1032	0.1164	0.1830	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1062.29	20	chr14	45159080	.	TTA	T	1062.29	.	AC=3;AF=0.25;AN=12;BaseQRankSum=0.252;DP=92;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=29.51;ReadPosRankSum=0.694;SOR=0.957	GT:AD:DP:GQ:PL	1/1:0,23:23:69:889,69,0	4	1	1	1
chr14	104946756	104946756	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G8395C:p.V2799L,AHNAK2:NM_138420:exon7:c.G8695C:p.V2899L	.	.	.	.	.	.	.	.	.	.	.	2435343	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.064	0.0372655431307	.	.	9.967e-05	0.0004	0	0.0006	0	3.007e-05	0	6.056e-05	7.76e-05	12	154602	rs751143580	4.876e-05	6.43e-05	6.558e-05	3.176e-05	0.0005	3.941e-05	3.619e-05	0.0003	0.0002	0.0005	4.568e-05	0	0.0002	0	0	2.976e-05	0.0002	3.505e-05	0.0002	0.0006	0.0002	0.0002	0.0011	0.0002	0.0001	0.0004	0.0003	0.0004	0	0.0004	0	0.0011	0	0	7.68e-05	0	0	0.225	0.18626	T	0.313	0.19539	T	0.518	0.37483	P	0.226	0.38054	B	.	.	.	.	1	0.81001	D	1.455	0.36767	L	5.66	0.00776	T	-1.56	0.37759	N	0.136	0.13341	-0.9185	0.45756	T	0.005	0.01542	T	9	0.032521933	0.01406	T	0.037266	0.57510	D	0.064	0.18567	0.304	0.27325	0.0297737177859	0.01360	0.0056020981327771745	0.00530	.	.	0.281263887882	0.07669	T	0.021765	0.16896	T	-0.467445	0.00882	T	-0.533384	0.18950	T	0.0210996292355055	0.00812	T	0.562644	0.19782	T	0.04113719	0.06004	0.07096947	0.15143	0.04113719	0.06004	0.07096947	0.15142	-0.904	0.00899	T	.	.	0.122	0.25429	B	.	.	-0.017562	0.04162	1.001	0.92356238754974074	0.21758	0.07556	0.13568	N	AEFBI	.	.	.	-0.501978836871157	0.22015	1.172622	-0.55322393972836	0.20721	1.117648	4.22206282028075E-4	0.06935	0.706548	0.73137	0	0.547309	0.14657	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.14	3.24	0.36257	-0.111000	0.10778	-20.000000	0.00162	0.576000	0.29215	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.9008:0.0:0.0992	9.926	0.40663	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	2816.46	78	chr14	104946756	.	C	G	2816.46	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.389;DP=1233;ExcessHet=0;FS=2.036;MLEAC=1;MLEAF=0.071;MQ=55.81;MQRankSum=-0.096;QD=10.2;ReadPosRankSum=0.408;SOR=0.566	GT:AD:DP:GQ:PL	0/1:159,117:276:99:2827,0,4122	6	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	16186.6	59	chr15	59256276	.	C	T	16186.6	.	AC=14;AF=1;AN=14;BaseQRankSum=2.23;DP=606;ExcessHet=0;FS=0;MLEAC=14;MLEAF=1;MQ=60;MQRankSum=0;QD=27.34;ReadPosRankSum=1.07;SOR=0.309	GT:AD:DP:GQ:PL	1/1:0,151:151:99:4125,452,0	0	7	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	357.25	4	chr15	99973382	.	CTGGGCT	C	357.25	.	AC=6;AF=1;AN=6;DP=14;ExcessHet=0;FS=0;MLEAC=7;MLEAF=1;MQ=60;QD=30.23;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:90,6,0	0	3	0	4
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	573.07	72	chr16	15725134	.	T	TA	573.07	.	AC=4;AF=0.286;AN=14;BaseQRankSum=0.847;DP=587;ExcessHet=8.2628;FS=0.602;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=1.39;ReadPosRankSum=0.861;SOR=0.754	GT:AD:DP:GQ:PL	0/1:67,18:96:99:134,0,1419	3	0	4	0
chr16	21736312	21736312	A	C	exonic	OTOA	.	nonsynonymous SNV	OTOA:NM_170664:exon12:c.A1381C:p.T461P,OTOA:NM_001161683:exon17:c.A2116C:p.T706P,OTOA:NM_144672:exon22:c.A2353C:p.T785P	Deafness, autosomal recessive 22, Autosomal recessive	1	1455	66	0	0	66	0.0221774	.	.	.	215510	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_22|OTOA-related_disorder	MedGen:CN169374|MONDO:MONDO:0011762,MedGen:C1846896,OMIM:607039,Orphanet:90636|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.069	.	.	.	0.0017	0.0004	0.0057	0.0127	0.0006	0.0002	0.0044	0.0005	0.0001164	18	154602	rs464696	0.0027	0.0155	0.0028	0.0027	0.1093	0.0026	0.0026	0.1058	0.1044	0.0002	0.0153	0.0005	0.1093	0.0052	0.0004	0.0002	0.0026	0.0002	0.0093	0.0252	0.0078	0.0108	0.1123	0.0089	0.0087	0.1033	0.0997	0.0016	0	0.0358	0.0018	0.1123	0.0247	0	0.0014	0.0130	0.0105	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.008262	0.30928	N	0.263615	1	0.08975	N	-2.625	0.00040	N	2.52	0.62318	T	2.17	0.00446	N	0.111	0.12627	-0.9997	0.30002	T	0.047	0.19958	T	10	0.0033976436	0.00059	T	.	.	.	0.069	0.20116	.	.	0.223146558224	0.21909	0.30179339080132905	0.30092	0.215439360874	0.24075	0.405836969614	0.25881	T	0.01218	0.10748	T	-0.202969	0.20376	T	-0.529328	0.19354	T	0.0111524314979181	0.00163	T	0.20078	0.02277	T	0.107776865	0.25484	0.15349354	0.36067	0.107776865	0.25484	0.15349354	0.36066	-2.206	0.04638	T	.	.	0.038	0.00015	B	.;.;.;.;.	.;.;.;.;.	1.383796	0.17959	13.47	0.095317068874266858	0.00099	0.00036	0.00313	N	AEFDI	0.015862	0.00323	N	-1.45616380541738	0.02168	0.09546992	-1.3117935872963	0.04277	0.2013871	0.00715302757995105	0.11398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	1.165000	0.31432	3.981000	0.40905	-0.453000	0.05137	0.018000	0.19461	0.999000	0.35428	0.067000	0.16453	0.215:0.785:0.0:0.0	9.298	0.36990	616	0.66398	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.002924	0.000000	0.000000	0.009146	0.007576	0.08333	64.27	35	chr16	21736312	.	A	C	64.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.85;DP=271;ExcessHet=0;FS=1.421;MLEAC=1;MLEAF=0.083;MQ=58.92;MQRankSum=-4.897;QD=0.68;ReadPosRankSum=-0.861;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,8:95:74:0|1:21736312_A_C:74,0,3588:21736312	5	0	1	1
chr16	21736318	21736318	G	T	exonic	OTOA	.	stopgain	OTOA:NM_170664:exon12:c.G1387T:p.E463X,OTOA:NM_001161683:exon17:c.G2122T:p.E708X,OTOA:NM_144672:exon22:c.G2359T:p.E787X	Deafness, autosomal recessive 22, Autosomal recessive	1	1455	66	0	0	66	0.0221774	.	.	YES	215511	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_22|Rare_genetic_deafness	MedGen:CN169374|MONDO:MONDO:0011762,MedGen:C1846896,OMIM:607039,Orphanet:90636|MedGen:C5680250,Orphanet:96210	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0002	0.0027	0.0109	0.0005	0.0001	0.0033	0.0005	0.0006916	18	26028	rs200988634	0.0028	0.0161	0.0029	0.0027	0.1161	0.0027	0.0027	0.1125	0.1111	0.0002	0.0146	0.0005	0.1161	0.0057	0.0004	0.0002	0.0027	0.0003	0.0104	0.0256	0.0090	0.0118	0.1263	0.0100	0.0098	0.1168	0.1130	0.0019	0	0.0392	0.0018	0.1263	0.0277	0	0.0015	0.0155	0.0118	.	.	.	.	.	.	.	.	.	.	.	.	0.001261	0.39594	N	0.206543	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.261	0.31027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618043	0.98066	D	0.65	0.98035	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.	.;High;.;.;.	9.249701	0.98674	40	0.99684581723761778	0.79507	0.86612	0.45929	D	AEFDI	0.050671	0.08878	N	0.716862464402532	0.80737	7.361173	0.480573662879012	0.66703	4.986821	0.150217142613918	0.17427	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.18	4.18	0.48473	5.039000	0.63980	9.820000	0.81798	0.458000	0.21545	1.000000	0.71638	1.000000	0.68203	0.265000	0.23644	0.0:0.0:1.0:0.0	11.841	0.51630	616	0.66398	.;.;.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.000000	0.002924	0.000000	0.000000	0.009146	0.011364	0.08333	64.27	35	chr16	21736318	.	G	T	64.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.01;DP=272;ExcessHet=0;FS=1.421;MLEAC=1;MLEAF=0.083;MQ=59.09;MQRankSum=-5.196;QD=0.68;ReadPosRankSum=-0.72;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,8:95:74:0|1:21736312_A_C:74,0,3606:21736312	5	0	1	1
chr16	23445970	23445970	A	-	intronic	COG7	.	.	.	Congenital disorder of glycosylation, type IIe	.	.	.	.	.	.	.	.	.	.	334369	not_provided|Congenital_disorder_of_glycosylation|COG7_congenital_disorder_of_glycosylation	MedGen:C3661900|MONDO:MONDO:0015286,MedGen:C0282577,Orphanet:137|MONDO:MONDO:0012118,MedGen:C2931010,OMIM:608779,Orphanet:79333	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.3899	0.3803	0.3566	0.3682	0.4249	0.3932	0.3811	0.3995	0.0002587	40	154602	rs71379679	0.3540	0.3620	0.3514	0.3567	0.3851	0.3531	0.3528	0.3797	0.3774	0.3470	0.3424	0.3544	0.3851	0.3561	0.3445	0.3513	0.3570	0.3803	0.2121	0.2083	0.2079	0.2167	0.3049	0.2100	0.2092	0.2916	0.2862	0.2187	0.1708	0.1807	0.1672	0.3049	0.2926	0.1352	0.1984	0.2037	0.2610	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	709.29	10	chr16	23445969	.	TA	T	709.29	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-0.553;DP=179;ExcessHet=11.5949;FS=2.736;MLEAC=7;MLEAF=0.583;MQ=60;MQRankSum=0;QD=6.82;ReadPosRankSum=0.092;SOR=1.066	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:16,8:24:89:.:.:89,0,266:.	0	0	6	1
chr16	88434984	88434984	C	T	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.C7514T:p.P2505L	Brittle cornea syndrome 1, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	336508	not_provided|Cardiovascular_phenotype|Brittle_cornea_syndrome_1	MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0024543,MedGen:C0268344,OMIM:229200,Orphanet:90354	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.019	0.493321281619	.	0.000199681	0.0007	0.0009	0	0	0	0.0004	0.0065	0.0009	9.06e-05	14	154602	rs552311966	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0010	3.165e-05	2.801e-05	0.0016	0	0	0.0012	5.932e-05	0.0003	0.0012	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.229e-05	0.0002	8.981e-05	2.405e-05	0	6.532e-05	0.0020	0	0	0	0.0002	0	0.0006	0.82	0.03184	T	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	-1.88	0.43906	N	0.1	0.10198	-1.0401	0.17283	T	0.054	0.22731	T	9	0.02087292	0.00489	T	0.493321	0.95035	D	0.019	0.03383	.	.	0.251116650651	0.24721	0.03297733097687064	0.03245	.	.	0.334924459457	0.15677	T	0.029956	0.21344	T	-0.561856	0.00247	T	-0.625396	0.10766	T	0.0145803076716825	0.00299	T	0.518548	0.16835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.15115	B	.;.	.;.	0.677514	0.10460	7.178	0.52155927680659486	0.04695	0.15707	0.19042	N	AEFBI	0.069942	0.13866	N	-0.962198159261524	0.09420	0.4457678	-1.01770092372883	0.09396	0.4672437	0.20086228948605	0.18121	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.22	0.99	0.18926	0.580000	0.23505	-0.113000	0.11807	-0.234000	0.07639	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.1643:0.6572:0.0:0.1785	5.019	0.13694	.	.	.;.	.	.	.	.	.	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	0.001348	0.000000	0.016949	0.004673	0.000000	0.000000	0.000000	0.000000	0.07143	1314.53	40	chr16	88434984	.	C	T	1314.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.35;DP=401;ExcessHet=0;FS=1.828;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=1.04;SOR=1.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,35:83:99:0|1:88434978_C_A:1325,0,1841:88434978	6	0	1	0
chr16	88723932	88723932	C	T	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon31:c.G4274A:p.S1425N	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	417	1098	7	0	0	7	0.00317749	.	.	.	982039	Dehydrated_hereditary_stomatocytosis_with_or_without_pseudohyperkalemia_and/or_perinatal_edema|Blood_group,_ER|Lymphatic_malformation_6|PIEZO1-related_disorder|not_provided	MONDO:MONDO:0008689,MedGen:C4551512,OMIM:194380,Orphanet:3202|MedGen:C5703066,OMIM:620207|MONDO:MONDO:0014797,MedGen:C4225184,OMIM:616843,Orphanet:568062|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.134	0.521898163511	.	.	0.0011	0	0.0024	0	0	0.0004	0	0.0022	0.0001552	24	154602	rs772788410	0.0004	0.0004	0.0003	0.0004	0.0032	0.0003	0.0003	0.0023	0.0022	6.332e-05	8.403e-05	0.0011	0	2.081e-05	0.0032	0.0002	0.0005	0.0026	0.0002	0.0002	0.0002	0.0002	0.0017	0.0001	0.0001	0.0008	0.0006	7.213e-05	0	6.532e-05	0.0012	0	0	0.0034	0.0001	0.0014	0.0017	0.144	0.25255	T	0.08	0.41913	T	1.0	0.90584	D	0.997	0.86255	D	0.000082	0.51296	D	0.194121	0.999806	0.49283	D	3.1	0.87590	M	-0.93	0.75215	T	-2.21	0.49684	N	0.466	0.50237	-0.3703	0.72952	T	0.379	0.73587	T	10	0.052884102	0.05393	T	0.521898	0.95459	D	0.260	0.57221	0.216	0.13643	0.285775778912	0.28195	0.37909203879146175	0.37824	.	.	0.831357896328	0.86770	D	0.312511	0.68433	T	-0.401489	0.02264	T	-0.354725	0.38663	T	0.159493900370773	0.17834	T	0.861414	0.55526	D	0.18746126	0.40201	0.17324612	0.39637	0.18746126	0.40201	0.17324612	0.39636	-11.988	0.84793	D	0.6523361768315288	0.72467	0.710	0.73380	P	.	.	4.337266	0.66507	25.0	0.99669483997941732	0.78458	0.97253	0.73599	D	AEFBI	0.694129	0.65323	D	0.287204185475833	0.55499	3.713965	0.302764658637187	0.55701	3.733018	0.999999996637528	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.21	5.21	0.72005	4.545000	0.60408	7.495000	0.59416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.187000	0.21511	0.0:1.0:0.0:0.0	17.878	0.88744	873	0.30802	Piezo domain	.	.	.	.	.	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	0.003663	0.000000	0.000000	0.004065	0.000000	0.000000	0.009804	0.008333	0.07143	1168.49	35	chr16	88723932	.	C	T	1168.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.153;DP=316;ExcessHet=0;FS=0.636;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=1.36;SOR=0.616	GT:AD:DP:GQ:PL	0/1:80,58:138:99:1179,0,1811	6	0	1	0
chr17	3648932	3648932	G	C	splicing	CTNS	NM_001031681:exon5:c.225+1G>C;NM_001374492:exon5:c.225+1G>C;NM_004937:exon5:c.225+1G>C;NM_001374494:exon4:UTR5	.	.	Cystinosis, atypical nephropathic, Autosomal recessive;Cystinosis, late-onset juvenile or adolescent nephropathic, Autosomal recessive;Cystinosis, nephropathic, Autosomal recessive;Cystinosis, ocular nonnephropathic, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.938	YES	3398648	Nephropathic_cystinosis	MONDO:MONDO:0100151,MedGen:C2931187,OMIM:219800,Orphanet:213,Orphanet:411629	criteria_provided,_single_submitter	Likely_pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.436e-05	0.0001	3.331e-05	1.536e-05	0.0001	1.769e-05	1.565e-05	4.129e-05	2.404e-05	0.0001	0	0	0	0	0	2.846e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597158	0.97652	D	0.62	0.97616	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.564985	0.92168	32	0.99013568629743054	0.50420	0.98683	0.85537	D	AEFBI	.	.	.	1.03179274073246	0.96641	14.95034	0.838146727094735	0.92305	11.35053	0.999987276666517	0.51787	0.163922	0.03765	0	0.156668	0.03792	0	0.083675	0.02720	0	0.117559	0.03655	0	0.977595	0.81320	5.06	5.06	0.67838	6.350000	0.72965	11.735000	0.95074	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.799000	0.37691	0.0:0.0:1.0:0.0	18.302	0.90109	789	0.46346	.;.;.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4167	388.93	57	chr17	3648932	.	G	C	388.93	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-1.681;DP=502;ExcessHet=6.1542;FS=343.065;MLEAC=6;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.99;ReadPosRankSum=0.438;SOR=9.139	GT:AD:DP:GQ:PL	0/1:58,30:97:53:53,0,671	1	0	5	1
chr17	10641379	10641379	-	A	intronic	MYH3	.	.	.	Arthrogryposis, distal, type 2A, Autosomal dominant;Arthrogryposis, distal, type 2B, Autosomal dominant;Arthrogryposis, distal, type 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	327244	Arthrogryposis_multiplex_congenita|not_specified|Freeman-Sheldon_syndrome|not_provided	Human_Phenotype_Ontology:HP:0001389,Human_Phenotype_Ontology:HP:0001390,Human_Phenotype_Ontology:HP:0002759,Human_Phenotype_Ontology:HP:0002804,Human_Phenotype_Ontology:HP:0005188,Human_Phenotype_Ontology:HP:0005663,Human_Phenotype_Ontology:HP:0005809,Human_Phenotype_Ontology:HP:0005859,MONDO:MONDO:0015168,MeSH:D001176,MedGen:C5779613,OMIM:PS617468,Orphanet:1037|MedGen:CN169374|MONDO:MONDO:0008675,MedGen:C0265224,OMIM:193700,Orphanet:2053|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.0615016	0.0433	0.1347	0.0214	0.0124	0.0167	0.0344	0.0224	0.0675	0.0004528	70	154602	rs572601311	0.0401	0.0414	0.0402	0.0400	0.1306	0.0398	0.0397	0.1273	0.1259	0.1306	0.0189	0.0251	0.0101	0.0173	0.0385	0.0387	0.0429	0.0646	0.0585	0.0586	0.0603	0.0567	0.1281	0.0575	0.0571	0.1252	0.1240	0.1281	0.0484	0.0278	0.0291	0.0090	0.0138	0.0458	0.0355	0.0433	0.0702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	2387.47	14	chr17	10641379	.	G	GA	2387.47	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.077;DP=171;ExcessHet=3.1439;FS=2.01;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=18.65;ReadPosRankSum=0.745;SOR=0.493	GT:AD:DP:GQ:PL	0/1:15,5:20:81:81,0,359	5	0	1	1
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	150.31	.	chr17	17237171	.	C	G	150.31	.	AC=4;AF=1;AN=4;DP=6;ExcessHet=0;FS=0;MLEAC=5;MLEAF=1;MQ=60;QD=30.06;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	0	2	0	5
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3134.63	20	chr17	18130817	.	A	AGT	3134.63	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-0.39;DP=513;ExcessHet=0;FS=5.575;MLEAC=2;MLEAF=0.167;MQ=59.99;MQRankSum=0;QD=34.83;ReadPosRankSum=0.047;SOR=2.262	GT:AD:DP:GQ:PL	1/0:0,4:19:35:713,514,482	4	0	2	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3134.63	20	chr17	18130817	.	A	AGTGTGT	3134.63	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-0.39;DP=513;ExcessHet=0;FS=5.575;MLEAC=3;MLEAF=0.25;MQ=59.99;MQRankSum=0;QD=34.83;ReadPosRankSum=0.047;SOR=2.262	GT:AD:DP:GQ:PL	0/1:0,8:19:35:713,117,125	3	0	3	1
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	21752.1	153	chr17	21300880	.	C	T	21752.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=1.14;DP=1325;ExcessHet=14.2834;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.62;ReadPosRankSum=-0.235;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,123:254:99:0|1:21300875_G_T:4607,0,5062:21300875	0	0	7	0
chr17	61483613	61483613	-	GTGTGTGTGTGT	UTR3	TBX4	NM_001321120:c.*97_*98insGTGTGTGTGTGT;NM_018488:c.*97_*98insGTGTGTGTGTGT	.	.	Ischiocoxopodopatellar syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	346649	not_provided|Coxopodopatellar_syndrome	MedGen:C3661900|MONDO:MONDO:0007841,MedGen:C1840061,OMIM:147891,Orphanet:1509	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004204	65	154602	rs149977669	0.0376	0.0398	0.0379	0.0373	0.0493	0.0372	0.0370	0.0464	0.0453	0.0493	0.0324	0.0746	0.0068	0.0466	0.0411	0.0397	0.0465	0.0165	0.0777	0.0806	0.0796	0.0757	0.0931	0.0765	0.0760	0.0911	0.0903	0.0654	0.1030	0.0654	0.1510	0.0092	0.0656	0.0846	0.0931	0.0777	0.0204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	791.03	14	chr17	61483613	.	A	AGTGTGTGTGTGT	791.03	.	AC=2;AF=0.167;AN=12;BaseQRankSum=0;DP=135;ExcessHet=0.0509;FS=0;MLEAC=2;MLEAF=0.167;MQ=60;MQRankSum=0;QD=17.98;ReadPosRankSum=0.872;SOR=0.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,6:12:99:.:.:350,117,215:.	4	0	2	1
chr17	67913177	67913177	A	G	exonic	BPTF	.	nonsynonymous SNV	BPTF:NM_182641:exon11:c.A5293G:p.I1765V,BPTF:NM_004459:exon13:c.A5671G:p.I1891V	.	436	1084	2	0	0	2	0.000921659	.	.	.	3302051	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.178	0.0246064156982	7.8e-05	.	1.747e-05	0	0	0	0	3.115e-05	0	0	1.29e-05	2	154602	rs374472902	1.243e-05	1.231e-05	1.099e-05	1.389e-05	0.0002	7.77e-06	6.41e-06	8.14e-06	6.45e-06	0	0	0	0	0	0.0002	1.355e-05	1.675e-05	1.194e-05	6.57e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.132	0.26519	T	0.166	0.35205	T	0.936	0.52359	P	0.901	0.63994	P	.	.	.	.	0.999739	0.51612	D	1.245	0.31408	L	-2.2	0.86888	D	-0.5	0.15782	N	0.435	0.49602	-0.6001	0.64813	T	0.250	0.61935	T	9	0.35677618	0.52408	T	0.024606	0.47597	T	0.178	0.44724	.	.	0.443461608722	0.43965	0.47854432894616633	0.47774	0.96923454907	0.73300	0.864138364792	0.91720	D	0.124625	0.44978	T	-0.000902949	0.51531	T	-0.129015	0.61055	T	0.706970512866974	0.41052	D	0.894511	0.63379	D	0.078883186	0.17991	0.12232722	0.29508	0.078883186	0.17991	0.12232722	0.29507	-7.951	0.60735	D	.	.	0.468	0.63090	A	.;.;.;.;.;.	.;.;.;.;.;.	4.106203	0.61261	24.3	0.99451063669236084	0.65274	0.98458	0.82987	D	AEFBI	0.719974	0.67069	D	0.488971525147334	0.66444	4.950973	0.56956824046122	0.72768	5.862327	0.999951001469059	0.48110	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	6.121000	0.71321	11.238000	0.90335	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	16.395	0.83423	838	0.37812	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	178.27	26	chr17	67913177	.	A	G	178.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.132;DP=150;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.169;SOR=1.085	GT:AD:DP:GQ:PL	0/1:12,7:19:99:188,0,355	5	0	1	1
chr17	76477247	76477247	C	T	exonic	RHBDF2	.	nonsynonymous SNV	RHBDF2:NM_001005498:exon8:c.G853A:p.A285T,RHBDF2:NM_001376228:exon8:c.G853A:p.A285T,RHBDF2:NM_001376229:exon8:c.G853A:p.A285T,RHBDF2:NM_001376230:exon8:c.G853A:p.A285T,RHBDF2:NM_024599:exon8:c.G940A:p.A314T	Tylosis with esophageal cancer, Autosomal dominant	0	1512	9	1	0	11	0.00362438	.	.	.	878606	Palmoplantar_keratoderma-esophageal_carcinoma_syndrome|not_provided	MONDO:MONDO:0007856,MedGen:C1835664,OMIM:148500,Orphanet:2198|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.193	0.0580139184212	0.0007	0.000199681	0.0008	0.0002	0.0008	0	0.0015	0.0010	0	0.0011	0.0007633	118	154602	rs140433374	0.0009	0.0009	0.0008	0.0009	0.0009	0.0008	0.0008	0.0009	0.0009	0.0001	0.0008	0	0	0.0011	0.0009	0.0009	0.0009	0.0008	0.0005	0.0005	0.0004	0.0006	0.0008	0.0004	0.0004	0.0006	0.0005	7.222e-05	0	0.0008	0	0	0.0010	0	0.0007	0.0005	0.0002	0.065	0.36310	T	0.284	0.21411	T	0.891	0.49025	P	0.439	0.51231	B	0.000000	0.84330	D	0.000000	0.999886	0.50402	D	2.31	0.66127	M	-0.41	0.69413	T	-0.43	0.14390	N	0.622	0.72656	-0.3830	0.72558	T	0.430	0.77232	T	10	0.10933587	0.20392	T	0.058014	0.67169	D	0.193	0.47281	.	.	0.797291143822	0.79540	0.6017310933956239	0.60104	1.12451302267	0.78409	0.652512192726	0.60342	T	0.028348	0.20554	T	-0.165145	0.25971	T	-0.0663442	0.65887	T	0.0622759461402893	0.07522	T	0.835117	0.51077	T	0.19177422	0.40819	0.22025919	0.46795	0.20578931	0.42732	0.22975503	0.48056	-3.837	0.22273	T	.	.	0.337	0.55713	B	.;.	.;.	4.786409	0.77637	26.7	0.99890741167737884	0.96513	0.97895	0.77939	D	AEFBI	0.762692	0.70002	D	0.537794676431673	0.69340	5.343313	0.584900715013682	0.73857	6.039547	0.999995910987321	0.74766	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	5.54	5.54	0.82907	5.607000	0.67330	.	.	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.482	0.95005	945	0.12563	.;.	.	.	.	.	.	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	0.002523	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.07143	597.53	34	chr17	76477247	.	C	T	597.53	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.964;DP=259;ExcessHet=0;FS=0.868;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=7.47;ReadPosRankSum=-1.887;SOR=0.652	GT:AD:DP:GQ:PL	0/1:49,31:80:99:608,0,1260	6	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	0.5	12118.1	101	chr17	80184196	.	G	A	12118.1	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-0.602;DP=792;ExcessHet=0.3696;FS=0;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=16.88;ReadPosRankSum=-0.999;SOR=0.64	GT:AD:DP:GQ:PL	0/1:97,112:209:99:2773,0,2391	2	2	3	0
chr17	80184264	80184264	G	A	intronic	CARD14	.	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	6	48	368	1100	0	2568	0.963964	.	.	.	1182690	not_provided|not_specified|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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	16208.4	64	chr17	80184264	.	G	A	16208.4	.	AC=13;AF=0.929;AN=14;BaseQRankSum=0.518;DP=610;ExcessHet=0;FS=0;MLEAC=13;MLEAF=0.929;MQ=60;MQRankSum=0;QD=27.52;ReadPosRankSum=-0.566;SOR=0.776	GT:AD:DP:GQ:PL	1/1:0,137:137:99:4379,411,0	0	6	1	0
chr17	80202434	80202434	T	A	UTR3	CARD14	NM_001257970:c.*10T>A	.	.	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	3	581	641	245	52	1183	0.49324	.	.	.	390303	not_specified|Psoriasis_2|Pityriasis_rubra_pilaris|not_provided	MedGen:CN169374|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4160	0.35623	0.4195	0.2494	0.2489	0.4706	0.4337	0.4886	0.4391	0.3357	0.411004	63542	154602	rs8069255	0.4789	0.4785	0.4821	0.4756	0.5504	0.4779	0.4775	0.5443	0.5418	0.2463	0.2746	0.4213	0.5504	0.4314	0.4130	0.5079	0.4544	0.3360	0.4042	0.4042	0.4084	0.3999	0.5012	0.4015	0.4004	0.4967	0.4949	0.2537	0.7039	0.3372	0.4129	0.4998	0.4307	0.3946	0.5012	0.4019	0.3226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4286	5587.69	63	chr17	80202434	.	T	A	5587.69	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.605;DP=413;ExcessHet=8.2628;FS=3.425;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.501;SOR=0.535	GT:AD:DP:GQ:PL	0/1:42,37:79:99:820,0,1169	1	0	6	0
chr17	80205094	80205094	C	T	exonic	CARD14	.	nonsynonymous SNV	CARD14:NM_024110:exon18:c.C2458T:p.R820W,CARD14:NM_001366385:exon21:c.C2458T:p.R820W	Pityriasis rubra pilaris, Autosomal dominant;Psoriasis 2, Autosomal dominant	50	677	568	227	0	1022	0.430135	.	.	YES	390229	Autoinflammatory_syndrome|not_specified|Pityriasis_rubra_pilaris|Psoriasis_2|not_provided	MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:CN169374|MONDO:MONDO:0100017,MedGen:C0032027,OMIM:173200,Orphanet:2897|MONDO:MONDO:0011269,MedGen:C1864497,OMIM:602723|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.108	.	0.4093	0.353035	0.4244	0.2458	0.2536	0.4728	0.4509	0.4913	0.4363	0.3466	0.416469	64387	154602	rs11652075	0.4774	0.4773	0.4804	0.4744	0.5465	0.4765	0.4761	0.5404	0.5379	0.2319	0.2729	0.4216	0.5465	0.4308	0.4053	0.5063	0.4514	0.3424	0.3995	0.3997	0.4035	0.3954	0.4991	0.3969	0.3958	0.4946	0.4928	0.2409	0.7044	0.3346	0.4127	0.4952	0.4305	0.3844	0.4991	0.4020	0.3313	0.004	0.65419	D	0.035	0.52389	D	0.912	0.50421	P	0.17	0.35299	B	0.044886	0.23592	N	0.424901	0.99932	0.21372	P	1.04	0.26193	L	3.41	0.05574	T	-3.87	0.72594	D	0.111	0.10626	-0.9523	0.40573	T	0.000	0.00011	T	9	0.00018051267	0.00010	T	.	.	.	0.108	0.30607	.	.	.	.	0.6907763373857173	0.69017	0.3656648137	0.38159	0.328153610229	0.14655	T	0.159702	0.50324	T	-0.676618	0.00050	T	-0.600871	0.12738	T	0.0284327208824887	0.01751	T	0.822018	0.48145	T	0.073126465	0.16318	0.09188487	0.21627	0.08949082	0.20911	0.07744421	0.17251	-9.283	0.69500	D	0.35371682974795465	0.45071	0.107	0.20117	B	.;.;.	.;.;.	2.706086	0.35358	19.88	0.99284288146199018	0.58008	0.56796	0.30209	D	AEFDBCI	0.414520	0.48375	N	-0.377503514459143	0.26272	1.432592	-0.419791073847034	0.24417	1.336925	0.753767999298708	0.23401	0.554377	0.28877	0	0.550933	0.16991	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	4.09	1.85	0.24418	2.561000	0.45567	2.570000	0.33360	-0.249000	0.07183	0.963000	0.33788	0.978000	0.30204	0.008000	0.08271	0.3814:0.4907:0.0:0.128	4.371	0.10680	862	0.33134	.;.;.	CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|CARD14|RP11-334C17.5|SLC26A11|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|SLC26A11|SGSH|CARD14|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|CARD14|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|CARD14|RP11-334C17.5|SGSH|RP11-334C17.5|CARD14|RP11-334C17.5	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Brain_Amygdala|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Brain_Spinal_cord_cervical_c-1|Brain_Substantia_nigra|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Heart_Left_Ventricle|Liver|Lung|Lung|Lung|Minor_Salivary_Gland|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Ovary|Ovary|Pancreas|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Testis|Thyroid|Thyroid|Thyroid|Uterus|Whole_Blood|Whole_Blood	RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|SGSH|RP11-334C17.5|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|SGSH|RP11-334C17.5|RP11-334C17.5|SGSH|SGSH	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adrenal_Gland|Adrenal_Gland|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Caudate_basal_ganglia|Brain_Cerebellum|Brain_Hypothalamus|Breast_Mammary_Tissue|Breast_Mammary_Tissue|Cells_Cultured_fibroblasts|Cells_Cultured_fibroblasts|Cells_EBV-transformed_lymphocytes|Colon_Sigmoid|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Heart_Left_Ventricle|Lung|Lung|Minor_Salivary_Gland|Minor_Salivary_Gland|Nerve_Tibial|Nerve_Tibial|Ovary|Pancreas|Pancreas|Pituitary|Pituitary|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Small_Intestine_Terminal_Ileum|Spleen|Spleen|Stomach|Stomach|Stomach|Testis|Testis|Uterus|Uterus|Vagina|Whole_Blood|Whole_Blood|Whole_Blood	rs11652075	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.422805	0.408163	0.445504	0.473684	0.350000	0.456897	0.380368	0.367424	0.4286	8841.53	97	chr17	80205094	.	C	T	8841.53	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.423;DP=802;ExcessHet=8.2628;FS=0;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.386;SOR=0.673	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1662,0,1632	1	0	6	0
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L,DSG4:NM_177986:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	1	1486	35	0	0	35	0.0116395	.	.	.	715937	Hypotrichosis_6|DSG4-related_disorder|not_provided	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.025176	0.030303	0.036685	0.043860	0.000000	0.008621	0.009146	0.007576	0.1429	1709.24	34	chr18	31388386	.	C	T	1709.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=1.5;DP=313;ExcessHet=0.3476;FS=1.297;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=1.92;SOR=0.589	GT:AD:DP:GQ:PL	0/1:35,40:75:99:991,0,858	5	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R,DSG4:NM_177986:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	576181	DSG4-related_disorder|not_provided|Hypotrichosis_6	.|MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	718	0.55760	.;.	.	.	.	.	.	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	0.027694	0.035354	0.038043	0.046784	0.000000	0.008621	0.009146	0.011364	0.2143	4275.72	33	chr18	31399464	.	G	A	4275.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=1.56;DP=478;ExcessHet=1.1394;FS=1.791;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=12.65;ReadPosRankSum=0.082;SOR=0.802	GT:AD:DP:GQ:PL	0/1:79,77:156:99:2036,0,2060	4	0	3	0
chr19	1047509	1047515	GGAGCAG	-	exonic	ABCA7	.	frameshift deletion	ABCA7:NM_019112:exon16:c.2124_2130del:p.E709Afs*86	.	.	.	.	.	.	.	.	.	.	.	227447	Primary_degenerative_dementia_of_the_Alzheimer_type,_presenile_onset|Alzheimer_disease_9|not_specified|not_provided|ABCA7-related_disorder	MedGen:C5779573|MONDO:MONDO:0012153,MedGen:C4282179,OMIM:608907|MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	.	.	0.0028	0.000599042	0.0024	0.0009	0.0014	0	0.0049	0.0042	0.0034	0	0.0009056	140	154602	rs547447016	0.0023	0.0023	0.0025	0.0021	0.0027	0.0022	0.0022	0.0026	0.0026	0.0004	0.0009	0.0002	0	0.0026	0.0002	0.0027	0.0026	0	0.0017	0.0017	0.0018	0.0017	0.0030	0.0016	0.0015	0.0027	0.0025	0.0004	0	0.0012	0	0	0.0020	0	0.0030	0.0024	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	320.23	17	chr19	1047508	.	AGGAGCAG	A	320.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.143;DP=148;ExcessHet=0;FS=3.624;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.304;SOR=0.612	GT:AD:DP:GQ:PL	0/1:16,9:25:99:330,0,645	5	0	1	1
chr19	10984391	10984391	C	T	intronic	SMARCA4	.	.	.	Coffin-Siris syndrome 4, Autosomal dominant	1	1492	29	0	0	29	0.00962496	.	.	.	377243	not_provided|Hereditary_cancer-predisposing_syndrome|not_specified|Rhabdoid_tumor_predisposition_syndrome_2	MedGen:C3661900|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0027	0.00339457	0.0077	0.0007	0.0015	0	0.0213	0.0086	0.0090	0.0104	0.0032923	509	154602	rs180832203	0.0052	0.0051	0.0050	0.0054	0.0106	0.0051	0.0051	0.0100	0.0098	0.0006	0.0015	0.0012	2.745e-05	0.0072	0.0059	0.0053	0.0039	0.0106	0.0040	0.0040	0.0041	0.0039	0.0108	0.0037	0.0036	0.0084	0.0076	0.0009	0.0055	0.0022	0	0.0002	0.0072	0.0034	0.0058	0.0033	0.0108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2127.42	33	chr19	10984391	.	C	T	2127.42	.	AC=2;AF=0.143;AN=14;DP=253;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=28.75;SOR=0.747	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2148,222,0	6	1	0	0
chr19	12896047	12896047	C	A	exonic	GCDH	.	nonsynonymous SNV	GCDH:NM_000159:exon7:c.C561A:p.D187E,GCDH:NM_013976:exon7:c.C561A:p.D187E	Glutaricaciduria, type I, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	2801291	Glutaric_aciduria,_type_1|GCDH-related_disorder	MONDO:MONDO:0009281,MedGen:C0268595,OMIM:231670,Orphanet:25|.	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0.901	0.967618371041	7.7e-05	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs377580992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.005	0.72224	D	0.959	0.55135	D	0.725	0.55077	P	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.785	0.81254	M	-6.13	0.99538	D	-3.73	0.70920	D	0.977	0.98750	1.115	0.99891	D	0.982	0.99456	D	10	0.9817916	0.98223	D	0.967618	0.99799	D	0.901	0.97248	0.905	0.97985	0.939118346112	0.93849	0.8877451233806193	0.88743	0.795785766	0.66036	0.556223392487	0.46734	T	0.96423	0.99560	D	0.497178	0.94199	D	0.476386	0.94123	D	0.988478362560272	0.78800	D	0.993601	0.97904	D	0.9622602	0.97506	0.8700122	0.92867	0.9622602	0.97507	0.8700122	0.92867	-12.719	0.88172	D	0.7459342344112345	0.82802	0.748	0.74960	P	.;.	.;.	3.145859	0.42563	21.6	0.98900276564011114	0.48181	0.88076	0.47848	D	AEFDGBI	0.678878	0.64310	D	-0.287852708054425	0.29616	1.643984	-0.406703426663186	0.24800	1.36011	0.216449918472935	0.18303	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.88	-1.31	0.08749	0.893000	0.27970	.	.	-0.875000	0.02511	1.000000	0.71638	0.925000	0.28409	0.889000	0.42754	0.0:0.574:0.0:0.426	10.800	0.45687	611	0.66908	Acyl-CoA oxidase/dehydrogenase, central domain|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA oxidase/dehydrogenase, central domain|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1429	2016.63	34	chr19	12896047	.	C	A	2016.63	.	AC=2;AF=0.143;AN=14;DP=219;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;QD=34.18;SOR=2.342	GT:AD:DP:GQ:PL	1/1:0,59:59:99:2037,177,0	6	1	0	0
chr19	19196988	19196988	C	T	exonic	RFXANK	.	synonymous SNV	RFXANK:NM_001278728:exon3:c.C210T:p.T70T,RFXANK:NM_001370233:exon3:c.C213T:p.T71T,RFXANK:NM_001370234:exon3:c.C213T:p.T71T,RFXANK:NM_001370236:exon3:c.C210T:p.T70T,RFXANK:NM_001370237:exon3:c.C210T:p.T70T,RFXANK:NM_001370238:exon3:c.C213T:p.T71T,RFXANK:NM_001278727:exon4:c.C213T:p.T71T,RFXANK:NM_001370235:exon4:c.C210T:p.T70T,RFXANK:NM_003721:exon4:c.C213T:p.T71T,RFXANK:NM_134440:exon4:c.C210T:p.T70T	MHC class II deficiency, complementation group B, Autosomal recessive	0	1301	207	14	0	235	0.082834	.	.	.	332953	MHC_class_II_deficiency|not_specified	MONDO:MONDO:0008855,MedGen:C5447452,OMIM:PS209920,Orphanet:572|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0456	0.028754	0.0523	0.0107	0.0270	0.0002	0.0562	0.0697	0.0583	0.0508	0.0514612	7956	154602	rs72997200	0.0628	0.0628	0.0621	0.0635	0.0723	0.0625	0.0623	0.0677	0.0675	0.0099	0.0334	0.0877	0.0001	0.0583	0.0723	0.0681	0.0634	0.0532	0.0460	0.0460	0.0470	0.0449	0.0674	0.0451	0.0447	0.0658	0.0652	0.0112	0.0088	0.0462	0.0871	0.0006	0.0525	0.1054	0.0674	0.0540	0.0466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.049089	0.051020	0.036685	0.029240	0.150000	0.068966	0.088957	0.037879	0.08333	492.27	40	chr19	19196988	.	C	T	492.27	.	AC=1;AF=0.083;AN=12;BaseQRankSum=2.59;DP=214;ExcessHet=0;FS=2.96;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=0.649;SOR=1.259	GT:AD:DP:GQ:PL	0/1:24,18:42:99:502,0,592	5	0	1	1
chr19	36103440	36103440	C	T	exonic	WDR62	.	synonymous SNV	WDR62:NM_001083961:exon30:c.C3612T:p.G1204G,WDR62:NM_173636:exon30:c.C3597T:p.G1199G	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	1501	20	1	0	22	0.00727513	.	.	.	208576	Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations|not_specified|not_provided	MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0007	0.000798722	0.0010	0.0002	0.0011	0	0.0009	0.0012	0.0022	0.0012	0.0008861	137	154602	rs139946168	0.0009	0.0009	0.0008	0.0009	0.0075	0.0008	0.0008	0.0057	0.0051	8.961e-05	0.0010	0.0021	0	0.0006	0.0075	0.0008	0.0009	0.0010	0.0007	0.0007	0.0007	0.0007	0.0010	0.0006	0.0005	0.0007	0.0006	0.0002	0	0.0006	0.0023	0	0.0007	0.0137	0.0009	0.0028	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	1	0.004532	0.000000	0.002717	0.002924	0.000000	0.000000	0.018293	0.003788	0.07143	1341.49	34	chr19	36103440	.	C	T	1341.49	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.996;DP=418;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.37;ReadPosRankSum=-0.602;SOR=0.638	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1352,0,1775	6	0	1	0
chr19	42368446	42368446	C	G	intronic	MEGF8	.	.	.	Carpenter syndrome 2, Autosomal recessive	418	1102	2	0	0	2	0.000906618	0.0013	0.05	.	430235	MEGF8-related_Carpenter_syndrome|not_specified	MONDO:MONDO:0013998,MedGen:C3554247,OMIM:614976,Orphanet:65759|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0010	0.0023	0.0015	0.0007	0	0.0010	0.0023	0.0008	0.0005045	78	154602	rs373417416	0.0004	0.0004	0.0004	0.0004	0.0084	0.0004	0.0003	0.0065	0.0058	0.0013	0.0005	0.0021	0.0003	7.763e-05	0.0084	0.0003	0.0008	0.0004	0.0006	0.0006	0.0005	0.0008	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0	0.0008	0.0032	0.0004	0	0.0136	0.0003	0.0009	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	.	.	.	.	.	.	.	.	0.07143	883.63	33	chr19	42368446	.	C	G	883.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.483;DP=249;ExcessHet=0;FS=3.148;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=11.94;ReadPosRankSum=-1.177;SOR=0.744	GT:AD:DP:GQ:PL	0/1:34,40:74:99:894,0,843	6	0	1	0
chr19	45496962	45496962	-	GCCGCC	UTR5	RTN2	NM_206900:c.-138_-137insGGCGGC;NM_005619:c.-138_-137insGGCGGC	.	.	Spastic paraplegia 12, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1241810	Hereditary_spastic_paraplegia|not_provided	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003112	81	26028	rs1400564712	0.0703	0.0742	0.0653	0.0746	0.1231	0.0693	0.0689	0.1135	0.1098	0.0668	0.0437	0.0460	0.0511	0.0660	0.0986	0.0733	0.0671	0.1231	0.1334	0.1333	0.1338	0.1329	0.2089	0.1318	0.1312	0.1981	0.1938	0.1545	0.1548	0.0983	0.0868	0.0767	0.1017	0.1844	0.1333	0.1439	0.2089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	276.5	5	chr19	45496962	.	A	AGCCGCC	276.5	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-0.967;DP=30;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=34.56;ReadPosRankSum=0;SOR=0.595	GT:AD:DP:GQ:PL	0/1:1,2:3:36:81,0,36	5	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1198.3	27	chr19	57231146	.	G	GC	1198.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=2.46;DP=255;ExcessHet=0.3476;FS=0.782;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=12.61;ReadPosRankSum=0.577;SOR=0.6	GT:AD:DP:GQ:PL	0/1:26,20:46:99:513,0,694	5	0	2	0
chr20	3234173	3234173	T	G	exonic	SLC4A11	.	synonymous SNV	SLC4A11:NM_032034:exon4:c.A481C:p.R161R,SLC4A11:NM_001174089:exon5:c.A433C:p.R145R,SLC4A11:NM_001174090:exon5:c.A562C:p.R188R,SLC4A11:NM_001363745:exon5:c.A433C:p.R145R	Corneal dystrophy, Fuchs endothelial, 4;Corneal endothelial dystrophy and perceptive deafness, Autosomal recessive;Corneal endothelial dystrophy, autosomal recessive, Autosomal recessive	0	589	691	242	0	1175	0.499363	.	.	YES	257346	not_provided|Corneal_dystrophy-perceptive_deafness_syndrome|not_specified|Corneal_dystrophy|Congenital_hereditary_endothelial_dystrophy_of_cornea	MedGen:C3661900|MONDO:MONDO:0009015,MedGen:C1857572,OMIM:217400,Orphanet:1490|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533|MONDO:MONDO:0009019,MedGen:C1857569,OMIM:217700,Orphanet:293603	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.4809	0.479832	0.4365	0.6500	0.4606	0.5707	0.5076	0.4051	0.4592	0.3121	0.0001537	4	26028	rs3827075	0.4110	0.4110	0.4142	0.4077	0.6526	0.4101	0.4098	0.6453	0.6423	0.6526	0.4601	0.3812	0.5478	0.5051	0.3844	0.3997	0.4275	0.3151	0.4855	0.4856	0.4826	0.4886	0.6474	0.4826	0.4814	0.6409	0.6382	0.6474	0.4582	0.4720	0.3725	0.5688	0.5216	0.3596	0.3968	0.4409	0.3309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	1	0.392246	0.474747	0.387228	0.353801	0.250000	0.379310	0.420732	0.363636	0.4286	12267.5	102	chr20	3234173	.	T	G	12267.5	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-0.55;DP=854;ExcessHet=1.4958;FS=0.542;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=15.75;ReadPosRankSum=0.297;SOR=0.772	GT:AD:DP:GQ:PL	0/1:89,97:186:99:2287,0,2110	2	1	4	0
chr20	44429378	44429378	T	C	intronic	HNF4A	.	.	.	Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, Autosomal dominant;MODY, type I, Autosomal dominant	212	501	433	376	0	1185	0.541838	.	.	.	669135	not_provided|Maturity_onset_diabetes_mellitus_in_young	MedGen:C3661900|Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:PS125850,Orphanet:552	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	0.380192	.	.	.	.	.	.	.	.	0.091894	14207	154602	rs3746574	0.4904	0.4943	0.4926	0.4883	0.5585	0.4890	0.4885	0.5351	0.5260	0.3847	0.2913	0.6353	0.3116	0.4854	0.5585	0.5285	0.4894	0.3970	0.4582	0.4591	0.4651	0.4511	0.5235	0.4554	0.4542	0.5189	0.5171	0.3855	0.5872	0.3784	0.6432	0.2994	0.4658	0.5788	0.5235	0.4867	0.3900	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	186.9	2	chr20	44429378	.	T	C	186.9	.	AC=5;AF=0.5;AN=10;BaseQRankSum=1.65;DP=12;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.5;MQ=60;MQRankSum=0;QD=20.77;ReadPosRankSum=-0.524;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:68:68,0,74	2	2	1	2
chr21	44296453	44296453	C	T	intronic	AIRE	.	.	.	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, Autosomal recessive, Autosomal dominant	0	1510	12	0	0	12	0.00395778	0	0.014	.	442315	Polyglandular_autoimmune_syndrome,_type_1|not_provided|not_specified	MONDO:MONDO:0009411,MedGen:C0085859,OMIM:240300,Orphanet:3453|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0023	0.000399361	0.0023	0.0008	0.0022	0	0.0006	0.0029	0.0023	0.0027	0.0021604	334	154602	rs72650680	0.0025	0.0025	0.0025	0.0026	0.0050	0.0025	0.0024	0.0036	0.0031	0.0005	0.0019	0.0004	0	0.0009	0.0050	0.0029	0.0021	0.0026	0.0021	0.0021	0.0021	0.0021	0.0042	0.0019	0.0018	0.0030	0.0029	0.0006	0	0.0023	0	0.0002	0.0004	0	0.0034	0.0014	0.0042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	650.63	38	chr21	44296453	.	C	T	650.63	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.848;DP=267;ExcessHet=0;FS=0.889;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.327;SOR=0.565	GT:AD:DP:GQ:PL	0/1:41,33:74:99:661,0,927	6	0	1	0
chr22	43928847	43928847	C	G	exonic	PNPLA3	.	nonsynonymous SNV	PNPLA3:NM_025225:exon3:c.C444G:p.I148M	.	418	622	397	85	0	567	0.313087	.	.	.	352627	NAFLD1|Hepatic_steatosis|not_provided	MONDO:MONDO:0021105,MedGen:C2750440,OMIM:613282|Human_Phenotype_Ontology:HP:0001397,Human_Phenotype_Ontology:HP:0002252,Human_Phenotype_Ontology:HP:0200121,MONDO:MONDO:0004790,MedGen:C2711227|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity|risk_factor	.	.	.	.	.	.	.	.	0.339	.	0.1953	0.262181	0.2632	0.1376	0.5723	0.3785	0.2262	0.2293	0.2687	0.2174	0.255825	39551	154602	rs738409	0.2325	0.2339	0.2333	0.2317	0.5358	0.2319	0.2316	0.5301	0.5278	0.1320	0.5358	0.2180	0.4180	0.2272	0.2696	0.2179	0.2294	0.2237	0.2281	0.2285	0.2230	0.2335	0.4235	0.2261	0.2253	0.4148	0.4113	0.1395	0.2720	0.4235	0.2111	0.3866	0.2201	0.2483	0.2262	0.2624	0.2372	0.054	0.38633	T	0.003	0.76473	D	0.994	0.66517	D	0.944	0.68059	D	0.016391	0.27990	N	0.316000	0.000289165	0.48481	P	3.045	0.86684	M	-1.41	0.80560	T	-2.57	0.55501	D	0.173	0.18512	-1.0285	0.20940	T	0.000	0.00011	T	9	0.0025928915	0.00039	T	.	.	.	0.339	0.66106	.	.	.	.	0.6869485544173306	0.68634	0.503164557005	0.48655	0.487125337124	0.37040	T	0.29702	0.66963	T	-0.485539	0.00687	T	-0.326399	0.41867	T	0.0306719473680774	0.02094	T	0.692831	0.33234	T	0.40859076	0.61323	0.35764056	0.61255	0.40859076	0.61324	0.35764056	0.61254	-9.124	0.68491	D	.	.	0.329	0.55166	B	.;.	.;.	1.374372	0.17849	13.40	0.99302197316743868	0.58686	0.52933	0.29250	D	AEFBCI	0.108930	0.21653	N	-0.255780834863084	0.30874	1.725634	-0.533311740709871	0.21251	1.14871	0.99975902258671	0.42595	0.67177	0.52595	0	0.627178	0.54094	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	5.7	-1.97	0.07091	-1.142000	0.03314	-1.110000	0.06300	-0.176000	0.10722	0.009000	0.18154	0.001000	0.17328	0.035000	0.13729	0.0:0.4064:0.2195:0.3741	6.383	0.20749	855	0.34697	Patatin-like phospholipase domain|Patatin-like phospholipase domain;.	SAMM50|SAMM50|SAMM50|PNPLA3|PNPLA3	Adipose_Subcutaneous|Breast_Mammary_Tissue|Pituitary|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	SAMM50|SAMM50|SAMM50|PNPLA3|SAMM50	Artery_Tibial|Colon_Sigmoid|Prostate|Skin_Sun_Exposed_Lower_leg|Testis	rs738409	Benign	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.264854	0.257576	0.247283	0.321637	0.300000	0.258621	0.259146	0.257576	0.08333	1603.23	39	chr22	43928847	.	C	G	1603.23	.	AC=1;AF=0.083;AN=12;BaseQRankSum=0.442;DP=341;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.28;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,44:122:99:0|1:43928847_C_G:1613,0,3135:43928847	5	0	1	1
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	0.5	8736.06	41	chr22	43946236	.	A	G	8736.06	.	AC=7;AF=0.5;AN=14;BaseQRankSum=0.701;DP=478;ExcessHet=0;FS=2.297;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=25.47;ReadPosRankSum=-1.261;SOR=0.929	GT:AD:DP:GQ:PL	1/1:0,123:123:99:3541,367,0	3	3	1	0
chrX	75114753	75114753	C	T	splicing	ABCB7	NM_001271696:exon2:c.246+1G>A;NM_001271697:exon2:c.246+1G>A;NM_004299:exon2:c.249+1G>A;NM_001271699:exon2:c.249+1G>A	.	.	Anemia, sideroblastic, with ataxia, X-linked recessive	0	1488	24	10	0	44	0.0145695	1.0000	0.93	.	212052	not_specified|ABCB7-related_disorder|not_provided|Sideroblastic_Anemia_and_Ataxia	MedGen:CN169374|.|MedGen:C3661900|MedGen:CN239162	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0105	0.00635762	0.0113	0.0023	0.0077	0	0.0026	0.0176	0.0105	0.0041	0.0107567	1663	154602	rs61323727	0.0152	0.0153	0.0156	0.0144	0.0178	0.0150	0.0149	0.0175	0.0174	0.0028	0.0091	0.0108	0	0.0044	0.0178	0.0178	0.0145	0.0038	0.0108	0.0109	0.0112	0.0100	0.0169	0.0103	0.0101	0.0160	0.0156	0.0030	0.0015	0.0127	0.0121	0.0003	0.0035	0.0092	0.0169	0.0118	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.80221e-28	0.81001	P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.030248	0.47382	T	0.20136	0.83201	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.677618	0.74826	26.2	0.99356478839424978	0.60820	0.84914	0.44009	D	AEFHCI	.	.	.	.	.	.	.	.	.	0.999920934059679	0.46280	.	.	.	.	.	.	.	.	.	.	.	.	0.936182	0.59681	5.34	5.34	0.75982	4.646000	0.61108	5.077000	0.47232	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	13.476	0.60759	146	0.94180	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	3537.72	33	chrX	75114753	.	C	T	3537.72	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-0.476;DP=357;ExcessHet=0;FS=1.15;MLEAC=3;MLEAF=0.214;MQ=60;MQRankSum=0;QD=17.17;ReadPosRankSum=-1.01;SOR=0.797	GT:AD:DP:GQ:PL	0/1:67,78:145:99:1800,0,1557	5	1	1	0
chrX	153954347	153954347	G	T	exonic	HCFC1	.	nonsynonymous SNV	HCFC1:NM_005334:exon17:c.C4052A:p.P1351H	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), X-linked recessive	.	.	.	.	.	.	.	.	.	.	1335301	Methylmalonic_acidemia_with_homocystinuria,_type_cblX|not_specified	MONDO:MONDO:0010657,MedGen:C0796208,OMIM:309541,Orphanet:369962|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.031	0.170433974431	.	.	2.43e-05	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs111385795	1.559e-05	1.548e-05	1.092e-05	2.514e-05	0.0003	9.49e-06	7.76e-06	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.65419	D	0.08	0.41913	T	0.454	0.36182	P	0.156	0.34472	B	0.405505	0.13067	N	0.753550	1	0.08975	N	1.245	0.31408	L	4.08	0.03003	T	-1.26	0.33197	N	0.222	0.24883	-0.9755	0.36015	T	0.012	0.04463	T	10	0.062199056	0.07917	T	0.170434	0.84799	D	0.031	0.07369	0.201	0.11522	0.138757226776	0.13463	0.3749966295393151	0.37413	1.03562878044	0.75583	0.332493126392	0.15311	T	0.118656	0.43963	T	-0.611252	0.00124	T	-0.80693	0.01735	T	0.0441831551629783	0.04454	T	0.666933	0.27600	T	0.09337487	0.21929	0.12704177	0.30587	0.09337487	0.21929	0.12704177	0.30586	-4.629	0.32534	T	0.1957174390025448	0.25830	0.079	0.17953	B	.;.	.;.	2.439728	0.31399	18.73	0.9912456313364254	0.53089	0.52484	0.29142	D	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999999605788295	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.75	2.6	0.30173	0.598000	0.23774	.	.	0.672000	0.70159	0.001000	0.13787	1.000000	0.68203	0.772000	0.36596	0.2639:0.0:0.7361:0.0	10.750	0.45401	91	0.96221	.;.	.	.	.	.	.	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	0.000689	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.07143	1386.45	38	chrX	153954347	.	G	T	1386.45	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-2.273;DP=306;ExcessHet=0;FS=0.728;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.199;SOR=0.843	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1397,0,1574	6	0	1	0