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	NSWES882-M	WT	HH	HZ	NC
chr1	1041976	1041976	C	T	exonic	AGRN	.	nonsynonymous SNV	AGRN:NM_198576:exon7:c.C1198T:p.R400W	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, Autosomal recessive	0	1514	7	1	0	9	0.00296345	.	.	YES	447005	not_specified|not_provided|Congenital_myasthenic_syndrome_8	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014052,MedGen:C3808739,OMIM:615120,Orphanet:590	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.246	0.234161199949	0.0010	0.00159744	0.0005	0.0035	0.0003	0	0	0.0002	0.0012	0.0002	0.0004075	63	154602	rs149636063	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0024	0.0022	0.0029	0.0003	0	0	0	0.0016	0.0001	0.0004	0.0002	0.0010	0.0010	0.0011	0.0009	0.0031	0.0008	0.0008	0.0026	0.0025	0.0031	0	0.0003	0	0	0	0	0.0002	0.0009	0.0002	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	0.501759	0.05096	N	1.399860	0.999998	0.08975	N	2.14	0.59869	M	-1.1	0.77336	T	-2.48	0.54059	N	0.218	0.28381	-0.6112	0.64354	T	0.503	0.81247	D	10	0.01354447	0.00287	T	0.234161	0.88398	D	0.246	0.55340	.	.	0.844727990089	0.84324	0.28116212272564134	0.28029	0.489050590399	0.47680	0.431256473064	0.29380	T	.	.	.	-0.391063	0.02648	T	-0.33819	0.40548	T	0.0244619417390315	0.01203	T	0.979335	0.92911	D	.	.	.	.	.	.	.	.	-10.943	0.79344	D	.	.	0.113	0.23744	B	.;.	.;.	2.586432	0.33543	19.37	0.99758687961689307	0.84851	0.10613	0.16070	N	AEFDBI	0.385708	0.46635	N	-0.355928116005671	0.27055	1.481372	-0.572737178095273	0.20204	1.087521	0.95909198481824	0.28404	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.89	0.228	0.14635	0.489000	0.22096	0.437000	0.18385	-0.204000	0.08590	0.027000	0.20232	0.007000	0.19602	0.001000	0.02609	0.4027:0.4127:0.0962:0.0884	4.190	0.09876	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1145.43	60	chr1	1041976	.	C	T	1145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.036;DP=626;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.19;ReadPosRankSum=-0.452;SOR=0.737	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1157,0,923	9	0	1	0
chr1	1641723	1641723	-	TCC	exonic	CDK11B	.	nonframeshift insertion	CDK11B:NM_033487:exon7:c.179_180insGGA:p.E67_T68insE,CDK11B:NM_033490:exon8:c.296_297insGGA:p.E106_T107insE,CDK11B:NM_001291345:exon9:c.917_918insGGA:p.E313_T314insE,CDK11B:NM_001787:exon9:c.986_987insGGA:p.E336_T337insE,CDK11B:NM_033486:exon9:c.947_948insGGA:p.E323_T324insE,CDK11B:NM_033489:exon10:c.845_846insGGA:p.E289_T290insE	.	13	209	3	1	0	5	0.0118203	.	.	.	3547713	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203457539	0.0005	0.0006	0.0004	0.0007	0.0034	0.0005	0.0005	0.0031	0.0029	6.534e-05	0.0005	0.0002	3.253e-05	0	0.0025	0.0003	0.0005	0.0034	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0002	0.0011	0.0008	0.0002	0	0.0002	0	0.0003	0	0.0046	0.0004	0.0016	0.0024	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1371.08	34	chr1	1641723	.	T	TTCC	1371.08	.	AC=2;AF=0.1;AN=20;DP=292;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.1;MQ=39.11;QD=33.92;SOR=1.839	GT:AD:DP:GQ:PL	1/1:0,31:31:93:1394,93,0	9	1	0	0
chr1	1709100	1709100	A	G	exonic	CDK11A	.	nonsynonymous SNV	CDK11A:NM_001313896:exon8:c.T791C:p.L264P,CDK11A:NM_001313982:exon8:c.T779C:p.L260P,CDK11A:NM_024011:exon8:c.T782C:p.L261P,CDK11A:NM_033529:exon8:c.T752C:p.L251P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.199407292294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.01e-06	7.046e-06	1.712e-05	0	1.357e-05	1.87e-06	1.26e-06	4.17e-06	2.14e-06	0	0	0	0	0	0	1.357e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.91255	T	0.294	0.21678	T	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.072930	1	0.81001	D	2.545	0.74286	M	2.26	0.17596	T	-0.42	0.21215	N	0.507	0.53884	-1.1051	0.03527	T	0.084	0.32729	T	10	0.34290853	0.51313	T	0.199407	0.86650	D	0.132	0.35948	0.279	0.23323	0.571897645862	0.56856	0.30191750913494686	0.30104	0.9835676918	0.73823	.	.	.	0.032343	0.22444	T	-0.042551	0.45569	T	-0.298898	0.44842	T	0.82007884979248	0.47778	D	0.963304	0.86380	D	0.45264474	0.64209	0.41551083	0.65663	0.45264474	0.64209	0.41551083	0.65663	-10.564	0.83797	D	.	.	0.741	0.80506	P	.;.;.;.;.;.	.;.;.;.;.;.	4.877118	0.79954	27.2	0.9987481108916807	0.95160	0.94766	0.62256	D	AEFI	0.880815	0.80772	D	0.446523681886591	0.64006	4.645757	0.367939193223892	0.59596	4.138753	0.00241343829013502	0.09408	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.24	1.99	0.25423	7.876000	0.85623	8.454000	0.77227	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.8107:0.1893:0.0:0.0	8.793	0.34019	649	0.63102	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	132.97	3	chr1	1709100	.	A	G	132.97	.	AC=4;AF=0.2;AN=20;DP=39;ExcessHet=0;FS=0;InbreedingCoeff=0.6636;MLEAC=3;MLEAF=0.15;MQ=27;QD=26.59;SOR=1.022	GT:AD:DP:GQ:PL	1/1:0,3:3:9:95,9,0	8	2	0	0
chr1	1927674	1927674	G	T	exonic	CFAP74	.	nonsynonymous SNV	CFAP74:NM_001304360:exon28:c.C3460A:p.R1154S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.669	0.06325	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.25253	-0.9844	0.33975	T	0.030	0.12717	T	6	0.118411034	0.22387	T	.	.	.	0.025	0.05312	.	.	0.0138822411134	0.00435	0.4116505375261653	0.41081	.	.	.	.	.	0.024591	0.18549	T	-0.263382	0.12507	T	-0.616107	0.11494	T	0.134595324773955	0.15800	T	0.430757	0.11694	T	0.178949	0.38941	0.18456918	0.41516	0.178949	0.38941	0.18456918	0.41516	-3.111	0.11423	T	.	.	0.263	0.49797	B	.	.	1.019911	0.13993	10.56	0.93916116639993408	0.23955	0.10237	0.15799	N	AEFDBI	0.113037	0.22320	N	-0.658788167222091	0.17204	0.8833234	-0.817041757523724	0.14083	0.7340056	0.0259848536202018	0.13683	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.72	1.75	0.23707	2.387000	0.44043	1.316000	0.25570	0.509000	0.23192	0.097000	0.22731	0.780000	0.26771	0.005000	0.06747	0.0:0.0:0.7196:0.2804	6.714	0.22482	929	0.16858	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2287.43	33	chr1	1927674	.	G	T	2287.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.49;DP=553;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.61;ReadPosRankSum=-1.153;SOR=0.704	GT:AD:DP:GQ:PL	0/1:139,99:238:99:2299,0,3138	9	0	1	0
chr1	4712519	4712521	GCC	-	exonic	AJAP1	.	nonframeshift deletion	AJAP1:NM_001042478:exon2:c.649_651del:p.A218del,AJAP1:NM_018836:exon2:c.649_651del:p.A218del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245696035	2.397e-05	2.599e-05	2.452e-05	2.34e-05	0.0009	1.74e-05	1.54e-05	0.0006	0.0006	0	0	0	0.0009	0	0	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	5126.1	62	chr1	4712518	.	GGCC	G	5126.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.69;DP=629;ExcessHet=0.2348;FS=0.47;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=21.1;ReadPosRankSum=0.683;SOR=0.673	GT:AD:DP:GQ:PL	0/1:59,69:128:99:2610,0,2164	8	0	2	0
chr1	11658775	11658775	G	A	exonic	FBXO44	.	nonsynonymous SNV	FBXO44:NM_183412:exon4:c.G403A:p.V135M,FBXO44:NM_183413:exon4:c.G403A:p.V135M,FBXO44:NM_001304790:exon5:c.G403A:p.V135M,FBXO44:NM_001330355:exon5:c.G499A:p.V167M	.	415	1105	2	0	0	2	0.000904159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.0555464066772	.	.	2.492e-05	0	0	0	0	1.515e-05	0	0.0001	1.94e-05	3	154602	rs776387122	1.3e-05	1.3e-05	6.807e-06	1.925e-05	0.0005	8.31e-06	6.7e-06	0.0001	7.541e-05	5.974e-05	0	0	0	0	0.0005	7.195e-06	4.968e-05	3.478e-05	6.571e-06	6.566e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.138	0.27544	T	0.0	0.92824	D	0.01	0.15535	B	0.033	0.22329	B	0.416321	0.04621	N	1.385230	1	0.81001	D	.	.	.	1.22	0.39223	T	-0.52	0.16187	N	0.364	0.41754	-1.0080	0.27541	T	0.106	0.38685	T	9	0.12956887	0.24653	T	0.055546	0.66274	D	0.059	0.16972	0.593	0.72247	0.506912157699	0.50330	0.18009975076355567	0.17928	.	.	.	.	.	0.011818	0.37157	T	-0.193169	0.21794	T	-0.333723	0.41053	T	0.157886907458305	0.17714	T	0.691931	0.30130	T	.	.	.	.	.	.	.	.	-6.881	0.53158	T	.	.	0.158	0.45714	B	.;.;.;.;.;.	.;.;.;.;.;.	0.827132	0.11988	8.543	0.99526509701278043	0.69591	0.27680	0.23345	N	AEFDBI	0.064987	0.12650	N	-0.390093426793165	0.25820	1.404538	-0.313171141238891	0.27672	1.537213	0.999980831095033	0.51787	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.01	3.06	0.34374	0.324000	0.19357	2.002000	0.30126	0.640000	0.52149	0.092000	0.22623	1.000000	0.68203	0.997000	0.79791	0.0973:0.1995:0.7032:0.0	8.463	0.32103	878	0.29785	F-box associated (FBA) domain;F-box associated (FBA) domain|F-box associated (FBA) domain;F-box associated (FBA) domain;F-box associated (FBA) domain;F-box associated (FBA) domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1228.43	40	chr1	11658775	.	G	A	1228.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.757;DP=434;ExcessHet=0;FS=3.952;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.21;ReadPosRankSum=1.04;SOR=0.665	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1240,0,972	9	0	1	0
chr1	11965543	11965543	C	T	exonic	PLOD1	.	nonsynonymous SNV	PLOD1:NM_000302:exon14:c.C1534T:p.R512C,PLOD1:NM_001316320:exon15:c.C1675T:p.R559C	Ehlers-Danlos syndrome, type VI, Autosomal recessive	2	1500	18	2	0	22	0.00727995	.	.	YES	249375	Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Ehlers-Danlos_syndrome|not_specified|Ehlers-Danlos_syndrome,_kyphoscoliotic_type_1|not_provided	MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:CN169374|MONDO:MONDO:0016002,MedGen:C0268342,OMIM:225400,Orphanet:1900|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.414	0.16287966263	0.0038	0.00179712	0.0035	0.0011	0.0004	0	0.0020	0.0049	0.0022	0.0037	0.0034411	532	154602	rs138490756	0.0049	0.0049	0.0049	0.0049	0.0104	0.0048	0.0048	0.0083	0.0075	0.0004	0.0008	0.0021	0	0.0028	0.0104	0.0057	0.0042	0.0035	0.0032	0.0032	0.0036	0.0028	0.0057	0.0030	0.0029	0.0052	0.0051	0.0009	0	0.0016	0.0023	0	0.0010	0.0136	0.0057	0.0024	0.0023	0.002	0.72154	D	0.009	0.66756	D	0.941	0.52883	P	0.2	0.36839	B	0.000021	0.62929	D	0.120996	0.904707	0.36258	D	0.345	0.11182	N	-1.94	0.84919	D	-3.03	0.62747	D	0.428	0.46742	-0.2701	0.75809	T	0.262	0.63274	T	10	0.013092965	0.00279	T	0.16288	0.84235	D	0.414	0.72479	.	.	0.855875980841	0.85448	0.6379520951430856	0.63729	0.41680062442	0.42316	0.247563481331	0.03515	T	0.40173	0.75895	T	-0.275741	0.11125	T	-0.165133	0.57887	T	0.0297979050361403	0.01959	T	0.943606	0.78679	D	0.25848582	0.48897	0.16500653	0.38195	0.31826228	0.54493	0.18967345	0.42326	-9.771	0.72528	D	0.12475964414831875	0.12295	0.150	0.33203	B	.	.	4.031260	0.59609	24.1	0.99820706349951294	0.90326	0.92078	0.54896	D	AEFDBI	0.778706	0.71113	D	-0.230338253826705	0.31894	1.793081	-0.167573237743813	0.32738	1.865516	0.999720114543042	0.42220	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.56	4.64	0.57399	0.357000	0.19935	3.919000	0.40458	0.549000	0.26987	0.990000	0.36992	1.000000	0.68203	0.966000	0.53164	0.1487:0.7081:0.1431:0.0	10.681	0.45009	778	0.48011	.	.	.	.	.	.	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	0.008560	0.010101	0.004076	0.011696	0.000000	0.008621	0.009146	0.015152	0.1	2647.14	33	chr1	11965543	.	C	T	2647.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.959;DP=539;ExcessHet=0.2348;FS=4.902;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=1.36;SOR=0.525	GT:AD:DP:GQ:PL	0/1:73,61:134:99:1323,0,1640	8	0	2	0
chr1	12938972	12938972	A	C	exonic	PRAMEF6	.	nonsynonymous SNV	PRAMEF6:NM_001010889:exon4:c.T1134G:p.F378L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00106011888108	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337300112	4.806e-06	8.894e-06	4.098e-06	5.522e-06	3e-05	2e-06	1.29e-06	1.32e-06	9.6e-07	3e-05	2.239e-05	0	0	0	0	4.507e-06	0	0	8.046e-06	1.334e-05	0	1.684e-05	1.675e-05	0	0	.	.	0	0	0	0	0	0	0	1.675e-05	0	0	0.094	0.31383	T	0.082	0.41573	T	0.015	0.17086	B	0.013	0.16460	B	0.312866	0.04026	N	1.401010	1	0.08975	N	1.91	0.51138	L	2.96	0.09542	T	-1.48	0.36189	N	0.063	0.03502	-0.9693	0.37345	T	0.026	0.11087	T	10	0.07533723	0.11631	T	0.00106	0.01215	T	0.032	0.07718	0.523	0.62668	0.043077524339	0.03247	0.19330155951732303	0.19248	1.89015088632	0.92711	0.584409832954	0.50706	T	0.025425	0.19015	T	-0.316671	0.07173	T	-0.692653	0.06236	T	0.0691271490831012	0.08528	T	.	.	.	0.048607264	0.08499	0.054022886	0.09212	0.048607264	0.08499	0.054022886	0.09211	-4.444	0.30149	T	.	.	0.543	0.66545	A	.;.	.;.	0.452162	0.08223	4.961	0.61700293490179847	0.06775	0.00398	0.01994	N	AEFI	0.035155	0.04478	N	-1.31770530023901	0.03472	0.1551741	-1.46120041433153	0.02670	0.123245	2.66272681662374E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-2.25	0.06498	-0.052000	0.11821	-4.945000	0.01915	-1.628000	0.00857	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.6745:0.0:0.3255:0.0	5.407	0.15628	964	0.07719	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	459.43	38	chr1	12938972	.	A	C	459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=5.91;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=26.93;MQRankSum=0.674;QD=6.13;ReadPosRankSum=-0.175;SOR=0.167	GT:AD:DP:GQ:PL	0/1:53,22:75:99:471,0,1451	9	0	1	0
chr1	13319432	13319432	G	A	exonic	PRAMEF15	.	stopgain	PRAMEF15:NM_001098376:exon3:c.G354A:p.W118X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	0	4.128e-06	3.48e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.48e-05	6.568e-06	6.562e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.204723	0.16511	N	0.581015	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190343	0.72995	D	0.0356387	0.72643	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.073614	0.84639	28.4	0.98712358638582343	0.45069	0.08418	0.14350	N	AEFI	0.031504	0.03385	N	0.0590469868693664	0.44559	2.727795	-0.312800179286453	0.27684	1.537978	2.61952491240133E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.27	1.27	0.20595	1.928000	0.39734	-0.015000	0.13005	0.462000	0.21616	0.108000	0.22953	0.000000	0.08366	0.020000	0.11549	0.0:0.0:1.0:0.0	5.995	0.18716	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3455.43	42	chr1	13319432	.	G	A	3455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.011;DP=1075;ExcessHet=0;FS=4.586;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.41;MQRankSum=3.47;QD=6.75;ReadPosRankSum=1.91;SOR=0.419	GT:AD:DP:GQ:PL	0/1:346,166:512:99:3467,0,8916	9	0	1	0
chr1	15518245	15518245	C	T	exonic	CASP9	.	nonsynonymous SNV	CASP9:NM_001229:exon2:c.G283A:p.A95T,CASP9:NM_001278054:exon2:c.G283A:p.A95T,CASP9:NM_032996:exon2:c.G34A:p.A12T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00506188088607	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.194	0.27783	T	0.484	0.16086	T	0.073	0.24078	B	0.06	0.26717	B	0.141159	0.18286	N	0.585612	0.999994	0.08975	N	1.24	0.30952	L	4.62	0.07920	T	-0.74	0.21429	N	0.074	0.13769	-0.9358	0.43272	T	0.014	0.05417	T	10	0.053319484	0.05503	T	0.005062	0.12815	T	0.028	0.06331	0.254	0.19378	0.392702134506	0.38879	0.24656893987794953	0.24570	0.116016811942	0.13085	0.25747859478	0.04595	T	0.102883	0.41102	T	-0.256968	0.13258	T	-0.606893	0.12239	T	0.0615760572254658	0.07414	T	0.579442	0.27600	T	0.14816163	0.33838	0.08891712	0.20761	0.14816163	0.33837	0.08891712	0.20760	-3.89	0.22152	T	.	.	0.080	0.27910	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.452592	0.08228	4.965	0.83915295214700614	0.14992	0.14802	0.18593	N	AEFDBI	0.138554	0.25989	N	-1.40255826153729	0.02616	0.1157809	-1.42818620782576	0.02973	0.137829	0.956065343669796	0.28225	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	3.29	1.3	0.20778	-0.072000	0.11446	-0.311000	0.10039	-1.753000	0.00686	0.164000	0.23853	0.002000	0.18203	0.004000	0.06068	0.2166:0.6563:0.0:0.127	4.527	0.11393	911	0.21964	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	336.1	40	chr1	15518245	.	C	T	336.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.497;DP=1203;ExcessHet=4.5998;FS=175.279;InbreedingCoeff=-0.3998;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.36;ReadPosRankSum=1.57;SOR=10.685	GT:AD:DP:GQ:PL	0/1:117,33:150:87:87,0,2514	4	0	6	0
chr1	16150928	16150928	G	C	exonic	EPHA2	.	nonsynonymous SNV	EPHA2:NM_004431:exon2:c.C121G:p.L41V	Cataract 6, multiple types, Autosomal dominant	0	1486	35	1	0	37	0.0122964	.	.	.	277032	not_provided|Cataract_6_multiple_types	MedGen:C3661900|MONDO:MONDO:0007288,MedGen:C1861825,OMIM:116600,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.359	.	0.0003	0.00219649	0.0024	9.649e-05	0.0003	0	0	0.0008	0.0033	0.0141	0.0020051	310	154602	rs147977279	0.0011	0.0011	0.0007	0.0015	0.0132	0.0011	0.0011	0.0126	0.0123	5.974e-05	0.0002	0	0	0	0.0073	0.0003	0.0014	0.0132	0.0006	0.0006	0.0004	0.0009	0.0126	0.0005	0.0005	0.0101	0.0092	9.625e-05	0	0.0002	0	0	0	0	0.0004	0.0005	0.0126	0.001	0.78490	D	0.004	0.74150	D	0.993	0.65571	D	0.989	0.78396	D	0.104332	0.19708	N	0.347855	0.999996	0.58761	D	2.645	0.77386	M	3.18	0.07478	T	-2.27	0.50666	N	0.721	0.72299	-1.0066	0.27973	T	0.095	0.35950	T	10	0.014636934	0.00308	T	.	.	.	0.359	0.67962	.	.	0.51585977439	0.51228	0.7065593612972182	0.70597	1.57610209646	0.88303	0.66790241003	0.62538	T	0.29296	0.66567	T	-0.40684	0.02086	T	-0.345498	0.39720	T	0.0443064352915746	0.04475	T	0.957704	0.84069	D	0.5229003	0.68426	0.50373375	0.71314	0.6663699	0.76240	0.5203363	0.72288	-7.228	0.55682	T	.	.	0.416	0.60448	A	.	.	4.794347	0.77832	26.8	0.99855624201752635	0.93458	0.94351	0.60889	D	AEFDGBCI	0.377127	0.46101	N	0.810017879435366	0.86730	8.979686	0.738519685415545	0.85298	8.538629	0.999996903580486	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.87	4.78	0.60666	3.419000	0.52486	9.572000	0.81012	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.526000	0.29613	0.0903:0.0:0.9097:0.0	13.144	0.58869	337	0.86119	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin type-A receptor 2, ligand binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	1028.14	35	chr1	16150928	.	G	C	1028.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.222;DP=372;ExcessHet=0.2348;FS=1.685;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=-0.159;SOR=0.482	GT:AD:DP:GQ:PL	0/1:29,30:59:99:687,0,702	8	0	2	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.5	19915.0	795	chr1	16563946	.	C	T	19915.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.034;DP=5672;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.33;MQRankSum=-8.109;QD=3.62;ReadPosRankSum=0.15;SOR=0.707	GT:AD:DP:GQ:PL	0/1:393,83:476:99:1174,0,10968	0	0	10	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	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	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.5	25605.0	1089	chr1	16563989	.	G	C	25605.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.602;DP=7782;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.72;MQRankSum=-3.519;QD=3.37;ReadPosRankSum=0.72;SOR=0.713	GT:AD:DP:GQ:PL	0/1:583,115:698:99:1215,0,14802	0	0	10	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.35	27604.9	1046	chr1	16564107	.	T	G	27604.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.873;DP=6880;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=55.41;MQRankSum=4.65;QD=5.15;ReadPosRankSum=0.56;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:441,243:684:99:.:.:4953,0,16326:.	3	0	7	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	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	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	51922.0	769	chr1	16564144	.	C	T	51922.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.597;DP=5482;ExcessHet=22.563;FS=1.183;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.28;MQRankSum=-17.39;QD=9.75;ReadPosRankSum=-0.081;SOR=0.807	GT:AD:DP:GQ:PL	0/1:398,53:451:99:271,0,13373	0	0	10	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.45	38369.0	743	chr1	16564149	.	C	T	38369.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.237;DP=5102;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=53.19;MQRankSum=6.51;QD=8.24;ReadPosRankSum=-0.21;SOR=0.699	GT:AD:DP:GQ:PL	0/1:267,169:436:99:3664,0,7650	1	0	9	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1	5105.14	143	chr1	16567226	.	A	C	5105.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.71;DP=3343;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.35;MQRankSum=-2.313;QD=2.9;ReadPosRankSum=1;SOR=0.718	GT:AD:DP:GQ:PL	0/1:827,193:1020:99:2722,0,21280	8	0	2	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.067524	0.046392	0.069482	0.067227	0.100000	0.068966	0.081761	0.073643	0.1	5704.14	147	chr1	16569091	.	T	C	5704.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.036;DP=1533;ExcessHet=0.2348;FS=0.539;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=42.19;MQRankSum=-0.791;QD=6.99;ReadPosRankSum=0.879;SOR=0.72	GT:AD:DP:GQ:PL	0/1:296,173:469:99:3118,0,6741	8	0	2	0
chr1	16576420	16576420	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	376	1138	7	0	1	8	0.00306614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0190	0.0009	0.0014	0.0008	0.0008	0.0023	0.0020	0.0001537	4	26028	rs71224949	0.0003	0.0019	0.0002	0.0003	0.0032	0.0002	0.0002	0.0027	0.0025	0.0032	0.0002	0.0016	0.0007	5.63e-05	0.0007	9.502e-05	0.0004	0.0009	0.0024	0.0099	0.0025	0.0022	0.0075	0.0022	0.0021	0.0068	0.0065	0.0075	0	0.0017	0.0003	0.0002	0.0007	0.0034	0.0001	0.0014	0.0013	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.29544	.	.	.	.	.	.	.	0.006000161	0.00135	T	.	.	.	.	.	.	.	0.428401797576	0.42457	0.025271005007065504	0.02478	.	.	0.57541012764	0.49440	T	.	.	.	-0.390947	0.02652	T	-0.799345	0.01919	T	.	.	.	0.728327	0.34315	T	.	.	.	.	.	.	.	.	-7.356	0.56593	T	.	.	0.174	0.38117	B	.;.	.;.	1.822071	0.23154	15.91	0.71471893975274703	0.09640	0.00413	0.02050	N	AEFBI	0.054188	0.09830	N	.	.	.	.	.	.	1.1785212342222E-4	0.05269	0.228283	0.04149	0	0.429362	0.06391	1	0.076283	0.02329	2	0.195515	0.04268	0	.	.	1.14	-2.24	0.06518	0.083000	0.14718	-3.937000	0.02441	0.172000	0.17770	0.033000	0.20612	0.000000	0.08366	0.039000	0.14166	0.2378:0.0:0.4414:0.3208	1.832	0.02942	443	0.79878	.;.	.	.	.	.	.	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	0.006152	0.000000	0.008174	0.008475	0.000000	0.017241	0.003311	0.000000	0.05	518.43	423	chr1	16576420	.	G	A	518.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.606;DP=2780;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.91;MQRankSum=-4.207;QD=1.87;ReadPosRankSum=-0.403;SOR=0.709	GT:AD:DP:GQ:PL	0/1:231,46:277:99:530,0,5933	9	0	1	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3571	1009.31	72	chr1	16579293	.	A	G	1009.31	.	AC=5;AF=0.357;AN=14;BaseQRankSum=2.23;DP=466;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.429;MQ=35.93;MQRankSum=0.756;QD=4.59;ReadPosRankSum=-1.271;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,4:27:99:0|1:16579293_A_G:99,0,954:16579293	2	0	5	3
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3125	1005.64	72	chr1	16579294	.	T	C	1005.64	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=465;ExcessHet=2.8389;FS=148.609;InbreedingCoeff=-0.4289;MLEAC=6;MLEAF=0.375;MQ=35.91;MQRankSum=0.756;QD=4.57;ReadPosRankSum=-1.305;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,4:27:99:0|1:16579293_A_G:99,0,954:16579293	3	0	5	2
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.25	464.7	70	chr1	16579305	.	G	A	464.7	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.45;DP=449;ExcessHet=2.8389;FS=126.997;InbreedingCoeff=-0.3739;MLEAC=5;MLEAF=0.25;MQ=35.64;MQRankSum=0.725;QD=2.18;ReadPosRankSum=-1.5;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,3:27:40:0|1:16579305_G_A:40,0,991:16579305	5	0	5	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	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	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2	310.61	69	chr1	16579308	.	G	C	310.61	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-1.011;DP=446;ExcessHet=1.5895;FS=110.764;InbreedingCoeff=-0.2501;MLEAC=4;MLEAF=0.2;MQ=35.66;MQRankSum=0.683;QD=2.17;ReadPosRankSum=-1.139;SOR=6.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:23,2:25:15:0|1:16579305_G_A:15,0,960:16579305	6	0	4	0
chr1	16589044	16589044	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023605930129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs761873741	9.954e-07	2.211e-06	2.048e-06	0	1.427e-06	0	0	.	.	0	0	0	0	0	0	1.427e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.47581	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	0.22098	.	.	.	.	.	.	.	0.1173833	0.22166	T	0.002361	0.04590	T	.	.	.	.	0.399596177874	0.39575	0.03473600224611081	0.03420	.	.	0.659978508949	0.61406	T	.	.	.	-0.305693	0.08133	T	-0.676884	0.07175	T	.	.	.	0.881612	0.60121	D	.	.	.	.	.	.	.	.	-8.965	0.67471	D	.	.	0.199	0.42259	B	.;.	.;.	2.084576	0.26515	17.14	0.90539374395287542	0.19795	0.01153	0.04166	N	AEFI	0.031406	0.03356	N	.	.	.	.	.	.	0.996179668057382	0.34572	0.360735	0.05675	0	0.346384	0.05893	0	0.231597	0.04857	0	0.370666	0.05837	0	.	.	0.557	0.557	0.16448	1.127000	0.30970	-8.807000	0.00910	-2.080000	0.00403	0.051000	0.21449	0.000000	0.08366	0.000000	0.00833	1.0E-4:0.0:0.9999:0.0	6.951	0.23726	452	0.79239	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	88.82	95	chr1	16589044	.	G	A	88.82	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.245;DP=520;ExcessHet=0;FS=0;InbreedingCoeff=-0.0745;MLEAC=1;MLEAF=0.05;MQ=23.16;MQRankSum=-0.735;QD=2.87;ReadPosRankSum=-1.04;SOR=0.346	GT:AD:DP:GQ:PL	0/1:24,7:31:99:100,0,590	9	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	6195.93	32	chr1	16759590	.	G	GC	6195.93	.	AC=14;AF=0.7;AN=20;BaseQRankSum=4.12;DP=691;ExcessHet=0.6204;FS=9.451;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=43.53;MQRankSum=-1.968;QD=12.62;ReadPosRankSum=-3.002;SOR=0.893	GT:AD:DP:GQ:PL	1/1:0,20:20:60:713,60,0	1	5	4	0
chr1	16760446	16760446	C	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.G383A:p.R128H	.	392	526	598	0	6	604	0.362424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	.	.	0.181909	0.2202	0.1841	0.2823	0.2424	0.2980	0.2226	0.2165	0.1673	0.0075808	1172	154602	rs28462251	1.288e-05	8.414e-05	1.139e-05	1.438e-05	8.359e-05	8.05e-06	6.64e-06	3.866e-05	2.726e-05	0	0	0	2.565e-05	9.971e-05	0	3.769e-06	1.724e-05	8.359e-05	0.0002	0.0011	0.0002	0.0002	0.0002	0.0001	0.0001	9.611e-05	7.423e-05	0.0002	0	0	0	0	0.0009	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	4717.98	171	chr1	16760446	.	C	T	4717.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=3.08;DP=2202;ExcessHet=4.5998;FS=15.492;InbreedingCoeff=-0.4285;MLEAC=6;MLEAF=0.3;MQ=45.05;MQRankSum=-0.209;QD=3.2;ReadPosRankSum=-0.377;SOR=1.841	GT:AD:DP:GQ:PL	0/1:237,31:268:99:188,0,6072	4	0	6	0
chr1	19219446	19219446	C	T	exonic	EMC1	.	nonsynonymous SNV	EMC1:NM_001271429:exon22:c.G2773A:p.V925I,EMC1:NM_001271427:exon23:c.G2836A:p.V946I,EMC1:NM_001271428:exon23:c.G2836A:p.V946I,EMC1:NM_015047:exon23:c.G2839A:p.V947I,EMC1:NM_001375820:exon24:c.G2848A:p.V950I,EMC1:NM_001375821:exon24:c.G2845A:p.V949I	Cerebellar atrophy, visual impairment, and psychomotor retardation, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	952160	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.015222943991	.	.	4.118e-05	0	0	0	0	7.492e-05	0	0	3.88e-05	6	154602	rs766662046	5.404e-05	5.404e-05	6.262e-05	4.538e-05	0.0010	4.41e-05	4.082e-05	0.0005	0.0003	2.987e-05	4.472e-05	0	0	0	0.0010	5.665e-05	6.623e-05	3.478e-05	3.947e-05	3.939e-05	5.145e-05	2.693e-05	0.0002	1.717e-05	1.131e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0	0.0002	0.202	0.21385	T	0.208	0.27414	T	0.905	0.52538	P	0.416	0.52930	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.935	0.23595	L	1.88	0.24085	T	-0.47	0.15178	N	0.416	0.45709	-1.1550	0.00884	T	0.084	0.32786	T	10	0.2976151	0.47322	T	0.015223	0.35825	T	0.118	0.32913	.	.	0.492336895404	0.48868	0.3599753228570831	0.35911	0.775270139995	0.64992	0.833569467068	0.87110	D	0.007348	0.06762	T	-0.217333	0.18358	T	-0.324259	0.42105	T	0.214260074079335	0.21173	T	0.964104	0.86689	D	0.12206478	0.28691	0.13064997	0.31390	0.12206478	0.28691	0.13064997	0.31389	-5.893	0.46762	T	0.4191486835751549	0.50818	0.123	0.25753	B	.;.;.	.;.;.	3.495700	0.48878	22.7	0.99832761371151135	0.91456	0.96358	0.68748	D	AEFDBCI	0.859839	0.77759	D	0.480725989598913	0.65964	4.889416	0.590910759451375	0.74284	6.111379	0.999999999999642	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	7.537000	0.80946	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:1.0:0.0:0.0	19.188	0.93638	809	0.43032	ER membrane protein complex subunit 1, C-terminal;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1195.43	34	chr1	19219446	.	C	T	1195.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.41;DP=439;ExcessHet=0;FS=2.39;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.88;ReadPosRankSum=-0.36;SOR=0.965	GT:AD:DP:GQ:PL	0/1:73,48:121:99:1207,0,1801	9	0	1	0
chr1	23797047	23797047	G	A	exonic	GALE	.	nonsynonymous SNV	GALE:NM_001127621:exon6:c.C629T:p.P210L,GALE:NM_000403:exon7:c.C629T:p.P210L,GALE:NM_001008216:exon7:c.C629T:p.P210L	Galactose epimerase deficiency, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	494036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.961	0.679703410898	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1163216229	6.844e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.975	0.96601	H	-3.48	0.94584	D	-9.7	0.98636	D	0.958	0.96758	1.094	0.99399	D	0.947	0.98256	D	10	0.97339565	0.97014	D	0.679703	0.97344	D	0.961	0.99405	.	.	0.953678394376	0.95318	0.878289159940182	0.87795	0.625447999306	0.56721	0.721738874912	0.70300	T	0.90378	0.98133	D	0.551845	0.95832	D	0.554911	0.95769	D	0.999976277351379	0.99958	D	0.998238	0.99167	D	0.9877965	0.99642	0.94906604	0.98343	0.9877965	0.99642	0.94906604	0.98343	-14.832	0.95446	D	0.8280386430095575	0.89951	0.847	0.81129	P	.;.;.;.	.;.;.;.	6.222408	0.94823	34	0.99885798808900705	0.96126	0.99633	0.98183	D	AEFDGBHCI	0.943454	0.94932	D	1.08006020929887	0.97747	16.68695	0.998114068883351	0.98590	18.72609	1.0	0.98316	0.712529	0.81865	0	0.697927	0.68747	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.55	5.55	0.83298	9.441000	0.96742	11.845000	0.97913	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.096	0.93234	507	0.75469	NAD(P)-binding domain;NAD(P)-binding domain;NAD-dependent epimerase/dehydratase;NAD-dependent epimerase/dehydratase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1275.43	39	chr1	23797047	.	G	A	1275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.336;DP=444;ExcessHet=0;FS=2.506;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=1.75;SOR=0.473	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1287,0,1318	9	0	1	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	2219.09	64	chr1	26282357	.	CTGGGGCCGGG	*	2219.09	.	AC=14;AF=0.7;AN=20;DP=410;ExcessHet=1.5895;FS=14.029;InbreedingCoeff=-0.25;MLEAC=14;MLEAF=0.7;MQ=60;QD=5.92;SOR=1.36	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,12:34:99:1|0:26282278_C_T:438,0,888:26282278	0	4	6	0
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1943.22	77	chr1	26282386	.	GCCGGGA	*	1943.22	.	AC=3;AF=0.188;AN=16;BaseQRankSum=0.129;DP=487;ExcessHet=2.8389;FS=11.565;InbreedingCoeff=-0.4379;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=6.87;ReadPosRankSum=1.35;SOR=0.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,27:51:99:0|1:26282278_C_T:925,0,861:26282278	5	0	3	2
chr1	27334251	27334251	T	G	exonic	TMEM222	.	nonsynonymous SNV	TMEM222:NM_032125:exon5:c.T509G:p.F170C	.	408	1110	4	0	0	4	0.00179856	.	.	.	3211016	TMEM222-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.264	0.00529695480291	0.0007	0.00119808	0.0008	0.0010	0.0023	0.0007	0	0.0006	0.0022	0.0009	0.0008344	129	154602	rs150291870	0.0006	0.0006	0.0006	0.0006	0.0024	0.0006	0.0006	0.0021	0.0019	0.0004	0.0024	0.0025	0.0002	0.0001	0.0005	0.0005	0.0008	0.0013	0.0007	0.0007	0.0008	0.0007	0.0027	0.0006	0.0006	0.0020	0.0018	0.0006	0	0.0027	0.0017	0	0	0	0.0004	0.0014	0.0010	0.041	0.46513	D	0.072	0.50809	T	0.999	0.77913	D	0.935	0.67021	D	0.047084	0.23377	N	0.500442	0.710576	0.30017	N	2.78	0.81115	M	.	.	.	-4.1	0.74900	D	0.493	0.52651	-0.3790	0.72682	T	0.321	0.68995	T	9	0.01963374	0.00441	T	0.005297	0.13556	T	0.264	0.57741	.	.	0.334659703779	0.33074	0.6985614336726526	0.69797	0.499841070482	0.48406	0.549677610397	0.45812	T	0.263802	0.63551	T	-0.301075	0.08558	T	-0.210798	0.53619	T	0.0563775284545176	0.06585	T	0.750125	0.37500	T	0.2680587	0.49878	0.3056502	0.56591	0.2680587	0.49878	0.3056502	0.56590	-8.589	0.65016	D	.	.	0.099	0.27343	B	.;.;.;.;.	.;.;.;.;.	4.023161	0.59433	24.1	0.97460442322806917	0.34079	0.88943	0.49122	D	AEFBHCI	0.737316	0.68255	D	0.526786776001699	0.68678	5.250522	0.460410315785468	0.65389	4.817493	0.999757588808173	0.42595	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	3.95	0.44952	3.078000	0.49794	0.692000	0.20773	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.1407:0.8593	12.349	0.54465	459	0.78817	.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.002014	0.010101	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	3759.43	35	chr1	27334251	.	T	G	3759.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.745;DP=665;ExcessHet=0;FS=0.85;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-0.115;SOR=0.641	GT:AD:DP:GQ:PL	0/1:167,157:324:99:3771,0,4145	9	0	1	0
chr1	28529938	28529938	G	C	exonic	RCC1	.	nonsynonymous SNV	RCC1:NM_001048194:exon2:c.G72C:p.K24N,RCC1:NM_001048195:exon2:c.G72C:p.K24N,RCC1:NM_001269:exon2:c.G72C:p.K24N,RCC1:NM_001048199:exon4:c.G72C:p.K24N,RCC1:NM_001381865:exon5:c.G72C:p.K24N,RCC1:NM_001381866:exon5:c.G72C:p.K24N	.	.	.	.	.	.	.	.	0.0005	0.18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0722973044124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.61437	D	0.013	0.92824	D	0.998	0.73220	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	0.79565	0.34444	D	0.975	0.24501	L	-1.42	0.80645	T	-2.69	0.57435	D	0.534	0.59816	-0.3382	0.73896	T	0.360	0.72216	T	10	0.3560201	0.52350	T	0.072297	0.71496	D	0.385	0.70194	0.466	0.53729	0.810979576649	0.80920	0.4355928167309696	0.43476	1.08794106341	0.77349	0.71510207653	0.69333	T	0.171459	0.51959	T	-0.0209551	0.48717	T	-0.267877	0.48035	T	0.966483950614929	0.67598	D	0.647135	0.26150	T	0.8713628	0.88969	0.54599774	0.73756	0.8713628	0.88971	0.54599774	0.73757	-4.422	0.41312	T	.	.	0.469	0.83749	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.349977	0.46200	22.3	0.9977828321055946	0.86519	0.71592	0.35080	D	AEFDBI	0.232333	0.35542	N	0.0636588868213935	0.44772	2.745291	0.054517838595966	0.42291	2.555406	0.945564337054047	0.27666	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.591	0.16648	0.093000	0.14925	1.729000	0.28315	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.991000	0.66497	0.4743:0.0:0.5257:0.0	6.317	0.20404	509	0.75304	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	79.95	35	chr1	28529938	.	G	C	79.95	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.034;DP=609;ExcessHet=0.2348;FS=143.236;InbreedingCoeff=-0.1618;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.51;ReadPosRankSum=1.43;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,14:70:61:0|1:28529938_G_C:61,0,1627:28529938	7	0	2	1
chr1	28529939	28529939	G	A	exonic	RCC1	.	nonsynonymous SNV	RCC1:NM_001048194:exon2:c.G73A:p.D25N,RCC1:NM_001048195:exon2:c.G73A:p.D25N,RCC1:NM_001269:exon2:c.G73A:p.V25I,RCC1:NM_001048199:exon4:c.G73A:p.V25I,RCC1:NM_001381865:exon5:c.G73A:p.V25I,RCC1:NM_001381866:exon5:c.G73A:p.V25I	.	.	.	.	.	.	.	.	0.5313	0.524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.19500	T	0.621	0.17585	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999707	0.48408	D	0.805	0.20218	L	-1.37	0.80214	T	-0.08	0.09627	N	0.282	0.31925	-0.8367	0.52865	T	0.230	0.59608	T	9	0.1642656	0.30736	T	0.102731	0.77636	D	0.193	0.47281	0.374	0.38667	0.56369308836	0.56033	.	.	.	.	.	.	.	0.096226	0.39781	T	-0.246509	0.14529	T	-0.591869	0.13504	T	0.41732761410587	0.29592	T	0.692831	0.30243	T	0.08214295	0.18909	0.111036256	0.26779	0.08214295	0.18909	0.111036256	0.26779	-4.477	0.30586	T	.	.	0.14	0.30686	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.950203	0.57866	23.9	0.97990855547560107	0.37401	0.88842	0.48968	D	AEFDBI	0.502570	0.53492	D	-0.318498542283485	0.28444	1.569036	-0.10307575425883	0.35266	2.03826	0.999030383757656	0.38264	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	4.26	0.49832	3.490000	0.53007	5.774000	0.49761	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0956:0.0:0.9044:0.0	9.872	0.40351	509	0.75304	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	49.43	35	chr1	28529939	.	G	A	49.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.787;DP=476;ExcessHet=0;FS=33.086;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=-0.523;SOR=5.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,14:70:61:0|1:28529938_G_C:61,0,1627:28529938	9	0	1	0
chr1	32600229	32600229	T	C	exonic	ZBTB8A	.	nonsynonymous SNV	ZBTB8A:NM_001040441:exon5:c.T1136C:p.I379T	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00241990515012	0.0030	0.000998403	0.0033	0.0013	0.0007	0	0.0009	0.0053	0.0011	0.0011	0.0033893	524	154602	rs142604487	0.0053	0.0053	0.0055	0.0052	0.0065	0.0052	0.0052	0.0064	0.0063	0.0007	0.0013	0.0003	0	0.0010	0.0016	0.0065	0.0055	0.0009	0.0030	0.0030	0.0033	0.0026	0.0050	0.0027	0.0026	0.0045	0.0044	0.0012	0	0.0026	0	0	0.0008	0	0.0050	0.0047	0.0006	0.379	0.11227	T	0.536	0.09897	T	.	.	.	.	.	.	0.032298	0.25050	U	0.415366	0.999998	0.58761	D	.	.	.	2.53	0.14038	T	-0.98	0.25986	N	0.274	0.31027	-0.9796	0.35094	T	0.011	0.03903	T	10	0.006718248	0.00152	T	0.00242	0.04757	T	0.047	0.12962	.	.	0.242825505644	0.23883	0.15417186741259037	0.15338	0.508974940275	0.49039	0.382187217474	0.22567	T	.	.	.	-0.64654	0.00076	T	-0.697761	0.05949	T	0.00389562423636306	0.00041	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.13830	B	.	.	1.979033	0.25141	16.65	0.89283578691426624	0.18665	0.89638	0.50231	D	AEFDBHCIJ	0.248370	0.36879	N	-0.647700666945845	0.17528	0.9026817	-0.50083872641372	0.22131	1.200546	0.0758064022712143	0.15708	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.37	3.01	0.33872	2.813000	0.47701	3.334000	0.37651	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.997000	0.79791	0.0:0.0784:0.1486:0.773	7.097	0.24492	208	0.91895	.	.	.	.	.	.	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	0.000000	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2363.43	33	chr1	32600229	.	T	C	2363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.9;DP=530;ExcessHet=0;FS=1.703;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=0.21;SOR=0.811	GT:AD:DP:GQ:PL	0/1:113,94:207:99:2375,0,2850	9	0	1	0
chr1	36171234	36171234	C	T	exonic	MAP7D1	.	nonsynonymous SNV	MAP7D1:NM_001286365:exon2:c.C310T:p.R104W,MAP7D1:NM_001286366:exon2:c.C310T:p.R104W,MAP7D1:NM_018067:exon2:c.C310T:p.R104W	.	430	1085	7	0	0	7	0.00321543	.	.	.	718948	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.099	.	0.0005	0.014377	0.0065	0.0011	0.0006	0.0403	0	0.0002	0.0081	0.0245	0.0058537	905	154602	rs2296266	0.0028	0.0028	0.0023	0.0032	0.0386	0.0027	0.0027	0.0370	0.0363	0.0004	0.0004	0.0004	0.0386	1.875e-05	0.0019	0.0002	0.0058	0.0219	0.0027	0.0027	0.0025	0.0029	0.0443	0.0025	0.0024	0.0396	0.0378	0.0009	0	0.0011	0	0.0443	0	0	0.0003	0.0014	0.0207	0.002	0.78490	D	0.014	0.62352	D	0.994	0.90584	D	0.653	0.64886	P	0.034645	0.24743	N	0.198819	0.998413	0.22169	N	1.5	0.37844	L	3.41	0.05574	T	-3.0	0.62343	D	0.283	0.34874	-1.0820	0.06965	T	0.016	0.06664	T	10	0.0029316545	0.00047	T	.	.	.	0.099	0.28413	.	.	0.082315109003	0.07666	0.18897196005309339	0.18815	0.568028422092	0.53036	0.450813233852	0.32055	T	0.022304	0.17222	T	-0.494798	0.00612	T	-0.451385	0.27544	T	0.0357868817457053	0.02943	T	0.946705	0.80601	D	0.16510792	0.36761	0.17283908	0.39568	0.16510792	0.36760	0.17283908	0.39567	-6.929	0.54609	T	.	.	0.103	0.26294	B	.;.;.;.;.	.;.;.;.;.	3.755369	0.53849	23.4	0.99895597151673843	0.96895	0.15874	0.19123	N	AEFDBI	0.207276	0.33346	N	-0.115112555309608	0.36734	2.127353	-0.207363474746172	0.31270	1.768137	0.999595846667756	0.40745	0.722319	0.85440	0	0.702456	0.74545	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.06	1.96	0.25203	0.699000	0.25264	2.128000	0.30762	0.587000	0.30956	0.000000	0.06391	0.971000	0.29754	0.833000	0.39279	0.6187:0.3813:0.0:0.0	11.831	0.51567	192	0.92531	.;.;.;.;.	.	.	.	.	.	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	1	0	0.002014	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	305.43	43	chr1	36171234	.	C	T	305.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.13;DP=376;ExcessHet=0;FS=2.602;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=-0.019;SOR=1.159	GT:AD:DP:GQ:PL	0/1:38,16:54:99:317,0,882	9	0	1	0
chr1	39297693	39297693	G	T	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon20:c.G2444T:p.C815F	.	433	1086	3	0	0	3	0.00137931	.	.	.	696724	MACF1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.704	0.456115479237	0.0055	0.00199681	0.0051	0.0012	0.0022	0	0.0032	0.0075	0.0044	0.0031	0.0051487	796	154602	rs148207245	0.0079	0.0079	0.0081	0.0077	0.0094	0.0078	0.0077	0.0092	0.0091	0.0009	0.0020	0.0052	2.519e-05	0.0032	0.0010	0.0094	0.0065	0.0033	0.0050	0.0050	0.0054	0.0045	0.0082	0.0047	0.0046	0.0076	0.0074	0.0015	0.0209	0.0038	0.0055	0	0.0017	0	0.0082	0.0043	0.0023	0.001	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999973	0.58761	D	.	.	.	-4.76	0.98111	D	-9.83	0.99124	D	0.855	0.90932	0.929	0.96090	D	0.946	0.98222	D	9	0.024349898	0.00667	T	0.456115	0.94430	D	0.704	0.89376	.	.	0.949578187931	0.94904	0.4102661905157068	0.40942	.	.	0.639173030853	0.58446	T	0.173058	0.88137	T	0.237373	0.77412	D	0.577588	0.96324	D	0.117944940499817	0.14227	T	0.920408	0.91141	D	0.8187053	0.85133	0.8915793	0.94379	0.82597226	0.85626	0.88760906	0.94098	-9.918	0.73419	D	.	.	0.520	0.66532	A	.;.;.;.;.;.	.;.;.;.;.;.	3.743494	0.53615	23.4	0.9929754317282814	0.58505	0.99239	0.93282	D	AEFDBIJ	0.926404	0.90744	D	0.754594021743226	0.83204	7.956433	0.797480323276588	0.89616	10.050	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	8.030000	0.89164	11.885000	0.98936	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.621	0.99492	627	0.65350	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.050000	0.000000	0.000000	0.007576	0.05	1946.43	39	chr1	39297693	.	G	T	1946.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.761;DP=531;ExcessHet=0;FS=4.743;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.289;SOR=0.985	GT:AD:DP:GQ:PL	0/1:74,82:156:99:1958,0,1652	9	0	1	0
chr1	51878485	51878485	G	A	exonic	NRDC	.	nonsynonymous SNV	NRDC:NM_001101662:exon1:c.C131T:p.P44L,NRDC:NM_002525:exon1:c.C131T:p.P44L	.	.	.	.	.	.	.	.	.	.	.	719006	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.019	.	0.0056	0.00499201	0.0016	0.0175	0.0008	0	0	6.098e-05	0	0	0.0014877	230	154602	rs138608728	0.0005	0.0005	0.0006	0.0004	0.0187	0.0005	0.0005	0.0175	0.0170	0.0187	0.0011	0	0	0	0.0002	1.529e-05	0.0009	0	0.0048	0.0048	0.0050	0.0045	0.0171	0.0045	0.0044	0.0160	0.0156	0.0171	0	0.0007	0	0	0	0	5.879e-05	0.0024	0	0.234	0.18691	T	0.358	0.26145	T	0.19	0.29379	B	0.043	0.24256	B	0.021292	0.26863	N	0.266470	0.999996	0.22029	N	0.55	0.14455	N	1.49	0.32958	T	-0.81	0.23808	N	0.083	0.15046	-1.0343	0.19078	T	0.021	0.08778	T	10	0.0023062527	0.00034	T	.	.	.	0.019	0.03383	.	.	0.043077524339	0.03247	0.2758344124545456	0.27496	0.0990729327235	0.11194	0.389662861824	0.23622	T	0.110408	0.42507	T	-0.601426	0.00143	T	-0.621747	0.11049	T	0.01604822923035	0.00385	T	0.70273	0.31245	T	0.05076628	0.09221	0.08082452	0.18316	0.05076628	0.09221	0.08082452	0.18315	-3.346	0.14338	T	.	.	0.122	0.36194	B	.;.;.	.;.;.	1.678173	0.21391	15.18	0.99762690563851286	0.85172	0.09659	0.15365	N	ALL	0.080467	0.16270	N	-0.70468373666719	0.15889	0.8048195	-0.650632956075202	0.18200	0.9712486	0.999999999171088	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.17	3.29	0.36801	0.505000	0.22352	1.659000	0.27889	0.676000	0.76740	0.007000	0.17678	0.066000	0.22130	0.741000	0.35472	0.0923:0.0:0.7245:0.1832	6.254	0.20071	328	0.86572	.;.;.	.	.	.	.	.	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	0	0	1	0	0.002014	0.000000	0.005435	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1299.43	33	chr1	51878485	.	G	A	1299.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=420;ExcessHet=0;FS=0.771;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.26;ReadPosRankSum=0.512;SOR=0.868	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1311,0,1205	9	0	1	0
chr1	52238678	52238678	A	G	exonic	ZFYVE9	.	nonsynonymous SNV	ZFYVE9:NM_004799:exon4:c.A1261G:p.K421E,ZFYVE9:NM_007324:exon4:c.A1261G:p.K421E	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0043	0.00359425	0.0009	0.0101	0.0005	0	0	4.504e-05	0.0011	0	0.000925	143	154602	rs61753464	0.0003	0.0003	0.0004	0.0003	0.0108	0.0003	0.0003	0.0099	0.0096	0.0108	0.0006	0	0	0	0.0005	2.068e-05	0.0008	1.159e-05	0.0032	0.0033	0.0034	0.0031	0.0114	0.0030	0.0029	0.0105	0.0102	0.0114	0	0.0009	0	0	0	0	5.88e-05	0.0019	0	0.024	0.48186	D	0.645	0.06859	T	0.094	0.28062	B	0.016	0.22909	B	0.006799	0.31798	N	0.206028	0.999567	0.20970	N	0.695	0.17993	N	1.15	0.38236	T	-0.68	0.21215	N	0.136	0.25377	-1.0334	0.19363	T	0.045	0.19234	T	10	0.0032640696	0.00056	T	.	.	.	0.038	0.09825	.	.	0.0675242888579	0.06100	0.06326488973133346	0.06265	0.147862766513	0.16680	0.364331007004	0.20015	T	0.005978	0.05421	T	-0.573682	0.00210	T	-0.587436	0.13888	T	0.00919048132809743	0.00116	T	0.59994	0.28021	T	0.12990418	0.30326	0.14442493	0.34289	0.12990418	0.30326	0.14442493	0.34288	-2.643	0.06837	T	.	.	0.076	0.17869	B	.;.;.	.;.;.	1.767118	0.22475	15.63	0.99480078487430745	0.66850	0.54697	0.29679	D	ALL	0.098549	0.19856	N	-0.44044394568253	0.24065	1.296813	-0.277953334614871	0.28826	1.610245	0.999999999996558	0.74766	0.706298	0.61202	0	0.624146	0.53433	0	0.709663	0.75317	0	0.616919	0.45865	0	.	.	4.98	3.82	0.43153	2.414000	0.44281	3.378000	0.37982	0.756000	0.94297	1.000000	0.71638	0.998000	0.33993	0.999000	0.91618	0.8478:0.0:0.1522:0.0	9.022	0.35368	335	0.86220	.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	2253.43	34	chr1	52238678	.	A	G	2253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.809;DP=463;ExcessHet=0;FS=3.78;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.08;ReadPosRankSum=-1.504;SOR=0.724	GT:AD:DP:GQ:PL	0/1:63,97:160:99:2265,0,1395	9	0	1	0
chr1	54144712	54144712	C	T	exonic	CDCP2	.	nonsynonymous SNV	CDCP2:NM_001353655:exon3:c.G181A:p.V61M,CDCP2:NM_201546:exon3:c.G181A:p.V61M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0392645788419	7.7e-05	.	1.653e-05	0	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs368144780	5.472e-06	5.472e-06	2.722e-06	8.25e-06	2.987e-05	2.35e-06	1.7e-06	2.62e-06	1.68e-06	2.987e-05	0	0	0	0	0	6.295e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.073	0.34800	T	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.000000	1	0.81001	D	1.325	0.33218	L	2.2	0.18570	T	-1.38	0.34198	N	0.786	0.78262	-1.0430	0.16413	T	0.138	0.45470	T	10	0.54090184	0.63713	D	0.039265	0.58710	D	0.252	0.56159	.	.	0.460526725402	0.45678	0.5535895674829301	0.55284	0.339247229736	0.35880	0.692285895348	0.66034	T	0.01844	0.14866	T	0.000323352	0.51698	T	-0.221826	0.52562	T	0.971964299678802	0.69517	D	0.90111	0.65631	D	0.2584202	0.48891	0.28952897	0.54972	0.2584202	0.48891	0.28952897	0.54972	-6.277	0.48540	T	.	.	0.231	0.46401	B	.;.	.;.	4.957082	0.81928	27.7	0.9989252979314136	0.96589	0.98975	0.89414	D	AEFDBI	0.934217	0.92726	D	0.772120914339094	0.84336	8.259346	0.767440978698855	0.87453	9.227541	0.999999999921255	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.51	5.51	0.81769	7.565000	0.81337	7.584000	0.61047	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:1.0:0.0:0.0	19.418	0.94700	837	0.37933	CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2431.43	39	chr1	54144712	.	C	T	2431.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.699;DP=573;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=2.68;SOR=0.669	GT:AD:DP:GQ:PL	0/1:129,106:235:99:2443,0,3140	9	0	1	0
chr1	54630829	54630829	C	G	exonic	ACOT11	.	nonsynonymous SNV	ACOT11:NM_015547:exon16:c.C1725G:p.D575E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.00698083623215	0.0004	0.000199681	0.0001	0.0015	0	0	0	0	0	0	0.00011	17	154602	rs113917018	3.894e-05	4.135e-05	3.2e-05	4.477e-05	0.0010	2.633e-05	2.212e-05	0.0006	0.0005	0.0010	0	0	0	0	0	0	0.0002	0	0.0002	0.0002	0.0001	0.0003	0.0007	0.0002	0.0001	0.0005	0.0005	0.0007	0	6.533e-05	0	0	0	0	0	0.0005	0	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.009293	0.30429	U	0.290769	1	0.08975	N	0	0.06538	N	-1.09	0.77206	T	-0.23	0.10656	N	0.108	0.09349	-0.8503	0.51948	T	0.196	0.55042	T	6	0.025497645	0.00742	T	0.006981	0.18485	T	0.107	0.30369	0.479	0.55823	0.721118004057	0.71866	0.1928181273524886	0.19199	0.181768185233	0.20427	.	.	.	0.005984	0.05421	T	-0.164568	0.26059	T	-0.474167	0.25068	T	0.0242155284918803	0.01172	T	0.205379	0.02414	T	0.35200796	0.57222	0.18315561	0.41287	0.35200796	0.57223	0.18315561	0.41286	-2.981	0.09978	T	.	.	0.153	0.33868	B	.	.	0.294632	0.06705	3.214	0.34733163396557798	0.02141	0.00294	0.01573	N	AEFBI	0.043379	0.06850	N	-0.877519997847494	0.11378	0.5488046	-1.05360519005556	0.08632	0.4253644	1.64607651243059E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	.	.	.	0.055000	0.14112	-2.813000	0.03335	0.065000	0.17553	0.141000	0.23520	0.000000	0.08366	0.155000	0.20479	.	.	.	808	0.43318	START domain|START 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	0.001591	0.000000	0.001366	0.007143	0.000000	0.000000	0.000000	0.000000	0.05	936.43	35	chr1	54630829	.	C	G	936.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.093;DP=394;ExcessHet=0;FS=2.965;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.56;ReadPosRankSum=-0.624;SOR=0.426	GT:AD:DP:GQ:PL	0/1:42,39:81:99:948,0,1029	9	0	1	0
chr1	54700342	54700342	C	T	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon16:c.C1540T:p.R514C,MROH7:NM_001039464:exon18:c.C2986T:p.R996C	.	427	1083	12	0	0	12	0.00550964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0230320514409	0.0016	0.00179712	0.0024	0.0005	0.0058	0.0001	0.0005	0.0018	0.0058	0.0057	0.0020569	318	154602	rs139827199	0.0017	0.0017	0.0016	0.0018	0.0049	0.0017	0.0016	0.0045	0.0044	0.0004	0.0027	0.0009	2.519e-05	0.0004	0.0038	0.0016	0.0015	0.0049	0.0012	0.0012	0.0014	0.0011	0.0041	0.0011	0.0010	0.0027	0.0023	0.0004	0	0.0010	0.0003	0.0002	0.0003	0.0034	0.0018	0.0024	0.0041	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.917	0.65306	D	0.303897	0.14550	N	0.610623	0.997959	0.49512	D	2.16	0.60381	M	4.72	0.02121	T	-3.93	0.73267	D	0.683	0.69913	-1.0772	0.07901	T	0.085	0.33014	T	10	0.013888657	0.00293	T	0.023032	0.45967	T	0.160	0.41473	.	.	0.186928172975	0.18263	0.21068615473690672	0.20984	0.473772204967	0.46581	0.597358465195	0.52532	T	0.132132	0.46203	T	-0.38034	0.03101	T	-0.318018	0.42791	T	0.0268653159448051	0.01525	T	0.876412	0.58869	D	0.20939183	0.43205	0.21668613	0.46305	0.20939183	0.43205	0.21668613	0.46304	-6.247	0.48301	T	.	.	0.332	0.55390	B	.;.	.;.	4.189719	0.63134	24.5	0.9992411981508893	0.98980	0.45925	0.27646	N	AEFBI	0.116902	0.22923	N	0.392515429573369	0.61017	4.297238	0.309431187916425	0.56094	3.77228	8.28159807578539E-5	0.04703	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	5.5	3.47	0.38831	1.035000	0.29824	0.394000	0.17923	0.599000	0.40250	0.954000	0.33273	0.065000	0.22112	0.993000	0.69303	0.3821:0.6179:0.0:0.0	10.283	0.42730	802	0.44336	.;.	.	.	.	.	.	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	0.005040	0.000000	0.002717	0.000000	0.000000	0.008621	0.018293	0.007576	0.05	1139.43	36	chr1	54700342	.	C	T	1139.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.389;DP=413;ExcessHet=0;FS=0.832;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.41;ReadPosRankSum=-0.672;SOR=0.879	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1151,0,776	9	0	1	0
chr1	54800802	54800802	G	C	exonic	TTC22	.	nonsynonymous SNV	TTC22:NM_001114108:exon1:c.C362G:p.A121G,TTC22:NM_017904:exon1:c.C362G:p.A121G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0105197771463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.388	0.15509	T	0.387	0.16328	T	0.0	0.07471	B	0.001	0.08700	B	0.028015	0.25668	N	0.392743	0.745255	0.29694	N	1.445	0.36358	L	1.54	0.30133	T	-1.36	0.33798	N	0.122	0.11340	-1.0616	0.11361	T	0.055	0.23148	T	10	0.068627924	0.09732	T	0.01052	0.27152	T	0.045	0.12272	0.206	0.12216	0.188950314367	0.18478	0.26887549560920204	0.26800	0.374542433298	0.38912	0.699378669262	0.67054	T	0.012007	0.10625	T	-0.259274	0.12984	T	-0.610206	0.11967	T	0.205375164747238	0.20709	T	0.652235	0.26282	T	0.12585789	0.29494	0.11818205	0.28530	0.12585789	0.29494	0.11818205	0.28529	-5.872	0.45195	T	.	.	0.100	0.18289	B	.;.	.;.	3.402364	0.47155	22.4	0.98875480559348228	0.47719	0.53425	0.29369	D	AEFDBCI	0.238818	0.36088	N	-0.30427436568147	0.28984	1.603399	-0.19248199269668	0.31812	1.803848	0.999975155369582	0.50053	0.59774	0.34471	0	0.166054	0.03914	2	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.31	2.17	0.26736	2.199000	0.42348	2.688000	0.34067	0.590000	0.31872	0.864000	0.30684	0.998000	0.33993	0.963000	0.52385	0.0:0.1399:0.359:0.5011	7.021	0.24095	912	0.21483	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	616.43	34	chr1	54800802	.	G	C	616.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.653;DP=379;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=1.14;SOR=0.675	GT:AD:DP:GQ:PL	0/1:30,27:57:99:628,0,744	9	0	1	0
chr1	62864106	62864106	G	T	exonic	ATG4C	.	nonsynonymous SNV	ATG4C:NM_032852:exon11:c.G1324T:p.D442Y,ATG4C:NM_178221:exon11:c.G1324T:p.D442Y	.	445	1074	3	0	0	3	0.0013947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.00404425314136	0.0012	0.000599042	0.0015	0.0003	8.787e-05	0	0.0006	0.0022	0	0.0021	0.0015524	240	154602	rs144423131	0.0019	0.0019	0.0018	0.0019	0.0024	0.0018	0.0018	0.0022	0.0021	0.0003	0.0005	0.0010	0	0.0018	0.0005	0.0021	0.0010	0.0024	0.0014	0.0014	0.0014	0.0014	0.0020	0.0013	0.0012	0.0018	0.0017	0.0003	0	0.0014	0.0012	0	0.0023	0	0.0020	0.0024	0.0017	0.024	0.47745	D	0.062	0.45318	T	0.459	0.36338	P	0.248	0.38946	B	0.000013	0.62929	D	0.145045	0.99995	0.52396	D	2.08	0.57402	M	.	.	.	-2.07	0.47344	N	0.399	0.44666	-0.8484	0.52079	T	0.154	0.48412	T	9	0.0134164095	0.00285	T	0.004044	0.09618	T	0.121	0.33580	.	.	0.582449840715	0.57917	0.5920656174368618	0.59136	0.0509601143664	0.05602	0.473263263702	0.35129	T	0.423208	0.77404	T	-0.257292	0.13218	T	-0.143831	0.59785	T	0.0509049364893792	0.05658	T	0.884911	0.60954	D	0.37043568	0.58617	0.2593931	0.51687	0.37043568	0.58617	0.2593931	0.51686	-5.04	0.37271	T	.	.	0.087	0.11366	B	.;.	.;.	4.130967	0.61814	24.4	0.98939227030873456	0.48902	0.93247	0.57710	D	AEFI	0.528888	0.55022	D	0.187495357193492	0.50597	3.248293	0.268647949672856	0.53718	3.539386	0.0946602603244771	0.16210	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.37	4.44	0.53164	5.486000	0.66578	11.828000	0.97436	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8576:0.1424	15.168	0.72525	777	0.48198	.;.	.	.	.	.	.	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	0.001009	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	334.43	33	chr1	62864106	.	G	T	334.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.587;DP=348;ExcessHet=0;FS=1.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.04;ReadPosRankSum=0.015;SOR=0.387	GT:AD:DP:GQ:PL	0/1:21,16:37:99:346,0,560	9	0	1	0
chr1	85158757	85158757	C	T	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578A:p.S1193N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0109281839246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.081	0.41742	T	0.958	0.54977	D	0.477	0.46994	P	0.000003	0.62929	D	0.141141	0.841424	0.28625	N	2.89	0.83701	M	3.01	0.09075	T	-1.36	0.33798	N	0.206	0.22870	-1.0896	0.05599	T	0.013	0.05273	T	10	0.1897026	0.34581	T	0.010928	0.28020	T	0.125	0.34456	0.093	0.01151	0.236890367714	0.23314	0.17515521952640145	0.17434	0.264699697906	0.29017	0.548633217812	0.45665	T	0.019491	0.15519	T	-0.177965	0.24039	T	-0.493411	0.23033	T	0.97476464509964	0.70646	D	0.379762	0.09155	T	0.4281341	0.62630	0.3544614	0.60990	0.4281341	0.62630	0.3544614	0.60990	-4.729	0.33754	T	.	.	0.092	0.13783	B	.	.	2.612422	0.33929	19.48	0.99246127042489396	0.56727	0.95586	0.65314	D	AEFGBI	0.675178	0.64065	D	0.296660874281403	0.55980	3.76211	0.369003311841199	0.59662	4.145805	0.995644873868107	0.34242	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	5.05	0.67566	3.147000	0.50335	2.710000	0.34229	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.7371:0.2629:0.0	15.424	0.74759	676	0.60355	.	.	.	.	.	.	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	1448.14	72	chr1	85158757	.	C	T	1448.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.334;DP=723;ExcessHet=15.1594;FS=160.488;InbreedingCoeff=-0.8658;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.56;ReadPosRankSum=0.981;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,11:35:97:0|1:85158755_A_G:97,0,276:85158755	8	0	2	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	4548.25	276	chr1	86580219	.	ACCTACT	*	4548.25	.	AC=14;AF=0.7;AN=20;BaseQRankSum=-0.525;DP=2733;ExcessHet=2.8389;FS=1.255;InbreedingCoeff=-0.3333;MLEAC=14;MLEAF=0.7;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=0.846;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,121:265:99:.:.:4273,0,5396:.	1	5	4	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1444.51	152	chr1	99884396	.	T	C	1444.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.239;DP=804;ExcessHet=2.8389;FS=173.721;InbreedingCoeff=-0.358;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.61;ReadPosRankSum=1.43;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,10:41:99:0|1:99884396_T_C:159,0,1117:99884396	5	0	5	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1070.13	151	chr1	99884400	.	T	C	1070.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.868;DP=818;ExcessHet=2.8389;FS=160.887;InbreedingCoeff=-0.3327;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.31;ReadPosRankSum=1.64;SOR=9.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,10:41:99:0|1:99884396_T_C:158,0,1152:99884396	5	0	5	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00471979587979	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.402e-05	0.0008	2.459e-05	2.345e-05	0.0002	1.744e-05	1.544e-05	2.006e-05	1.747e-05	5.989e-05	0	0	0	0	0.0002	2.799e-05	1.66e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.50676	D	0.096	0.39340	T	0.375	0.34209	B	0.25	0.39011	B	0.023848	0.26367	N	0.283710	0.989351	0.40936	D	-0.805	0.01590	N	4.38	0.02255	T	-0.42	0.14193	N	0.251	0.32481	-0.9074	0.47168	T	0.002	0.00526	T	10	0.13895068	0.26423	T	0.00472	0.11753	T	0.048	0.13305	0.424	0.46857	0.303871581278	0.30001	0.3848348631254194	0.38398	1.20472787136	0.80666	0.608450233936	0.54097	T	0.010575	0.09538	T	-0.290714	0.09565	T	-0.655367	0.08582	T	0.544324159622192	0.34265	D	0.79742	0.44137	T	0.08433104	0.19514	0.09508742	0.22536	0.08433104	0.19513	0.09508742	0.22536	-4.691	0.33295	T	.	.	0.266	0.50527	B	.;.	.;.	1.875938	0.23830	16.17	0.98865697297219557	0.47545	0.82763	0.41947	D	AEFBCI	0.391245	0.46976	N	-0.506877925592794	0.21857	1.163021	-0.39326206815582	0.25196	1.384239	0.905472008325259	0.26205	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	1.09	0.19517	1.118000	0.30860	3.404000	0.38147	0.676000	0.76740	0.809000	0.29839	1.000000	0.68203	1.000000	0.97212	0.304:0.0:0.696:0.0	9.065	0.35621	615	0.66512	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	1445.29	96	chr1	109508616	.	G	C	1445.29	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.994;DP=840;ExcessHet=2.8389;FS=240.489;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=2.91;ReadPosRankSum=1.33;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,38:117:99:.:.:534,0,1503:.	2	0	5	3
chr1	109508618	109508618	T	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.A295G:p.N99D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.00431994233541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.098	0.39040	T	0.046	0.21875	B	0.204	0.37039	B	0.023848	0.26367	N	0.283710	0.837229	0.28680	N	-0.135	0.04517	N	4.32	0.02387	T	-0.65	0.18877	N	0.264	0.35301	-0.9012	0.47868	T	0.003	0.00832	T	10	0.09139174	0.16007	T	0.00432	0.10498	T	0.050	0.13987	0.302	0.27003	0.35421846163	0.35036	0.42623265837729346	0.42540	1.16636633486	0.79636	0.593713998795	0.52018	T	0.016495	0.13623	T	-0.33	0.06112	T	-0.711798	0.05203	T	0.54811829328537	0.34407	D	0.660634	0.26999	T	0.10292237	0.24323	0.1119965	0.27018	0.10292237	0.24322	0.1119965	0.27018	-2.193	0.04007	T	.	.	0.145	0.32079	B	.;.	.;.	1.909142	0.24245	16.33	0.98833880806686136	0.47002	0.33936	0.24948	N	AEFBCI	0.215332	0.34070	N	-0.58773012198282	0.19317	1.009999	-0.480569429772215	0.22688	1.233631	0.896117992834435	0.25970	0.676563	0.55306	0	0.610034	0.51514	0	0.673471	0.61138	0	0.579976	0.35079	0	.	.	4.99	2.58	0.30011	-0.458000	0.06813	0.851000	0.22138	0.665000	0.62972	0.000000	0.06391	1.000000	0.68203	1.000000	0.97212	0.1294:0.0:0.2917:0.5789	6.884	0.23373	615	0.66512	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	214.45	96	chr1	109508618	.	T	C	214.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.512;DP=634;ExcessHet=0.7463;FS=90.79;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.72;ReadPosRankSum=1.12;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,14:116:67:0|1:109508618_T_C:67,0,3769:109508618	7	0	3	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	2536.04	155	chr1	114732648	.	C	G	2536.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.921;DP=1438;ExcessHet=22.563;FS=272.517;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=1.34;SOR=12.553	GT:AD:DP:GQ:PL	0/1:82,50:145:99:453,0,989	0	0	10	0
chr1	120809823	120809823	A	G	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon4:c.A506G:p.D169G	.	439	1055	23	5	0	33	0.015399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1403692093	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0004	0.0035	0.0034	0	0.0006	0.0003	0	0	0.0046	0.0001	0.0009	0.0039	0.0003	0.0003	0.0002	0.0004	0.0034	0.0002	0.0002	0.0021	0.0017	0	0	0.0003	0.0003	0.0002	0	0.0037	0.0003	0.0016	0.0034	.	.	.	0.039	0.67890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	0.31925	.	.	.	.	.	.	.	0.061215937	0.07641	T	.	.	.	.	.	.	.	.	.	0.03205359752714085	0.03153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.682032	0.29067	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.40952	B	.;.;.;.;.	.;.;.;.;.	0.622834	0.09910	6.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.086000	0.11198	-0.420000	0.09290	-0.536000	0.04945	0.094000	0.22667	0.000000	0.08366	0.003000	0.05239	.	.	.	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.2	7697.53	33	chr1	120809823	.	A	G	7697.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.388;DP=867;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=4;MLEAF=0.2;MQ=44.97;MQRankSum=4.33;QD=26.64;ReadPosRankSum=1.34;SOR=0.684	GT:AD:DP:GQ:PL	1/1:11,133:144:99:3759,147,0	8	2	0	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H,NBPF15:NM_001385448:exon6:c.G508C:p.D170H,NBPF15:NM_001385405:exon7:c.G508C:p.D170H,NBPF15:NM_001385447:exon7:c.G508C:p.D170H,NBPF15:NM_001385410:exon8:c.G508C:p.D170H,NBPF15:NM_001385413:exon8:c.G508C:p.D170H,NBPF15:NM_001385416:exon8:c.G508C:p.D170H,NBPF15:NM_001385432:exon8:c.G508C:p.D170H,NBPF15:NM_001385438:exon8:c.G508C:p.D170H,NBPF15:NM_001385446:exon8:c.G508C:p.D170H,NBPF15:NM_001385407:exon9:c.G508C:p.D170H,NBPF15:NM_001385418:exon9:c.G508C:p.D170H,NBPF15:NM_001385424:exon9:c.G508C:p.D170H,NBPF15:NM_001385427:exon9:c.G508C:p.D170H,NBPF15:NM_001385439:exon9:c.G508C:p.D170H,NBPF15:NM_001385440:exon9:c.G508C:p.D170H,NBPF15:NM_001385443:exon9:c.G508C:p.D170H,NBPF15:NM_001385445:exon9:c.G508C:p.D170H,NBPF15:NM_001385376:exon10:c.G508C:p.D170H,NBPF15:NM_001385377:exon10:c.G508C:p.D170H,NBPF15:NM_001385403:exon10:c.G508C:p.D170H,NBPF15:NM_001385404:exon10:c.G508C:p.D170H,NBPF15:NM_001385409:exon10:c.G508C:p.D170H,NBPF15:NM_001385411:exon10:c.G508C:p.D170H,NBPF15:NM_001385414:exon10:c.G508C:p.D170H,NBPF15:NM_001385441:exon10:c.G508C:p.D170H,NBPF15:NM_173638:exon10:c.G508C:p.D170H,NBPF15:NM_001385373:exon11:c.G508C:p.D170H,NBPF15:NM_001385374:exon11:c.G508C:p.D170H,NBPF15:NM_001385375:exon11:c.G508C:p.D170H,NBPF15:NM_001385408:exon11:c.G508C:p.D170H,NBPF15:NM_001385412:exon11:c.G508C:p.D170H,NBPF15:NM_001385415:exon11:c.G508C:p.D170H,NBPF15:NM_001385420:exon11:c.G508C:p.D170H,NBPF15:NM_001385423:exon11:c.G508C:p.D170H,NBPF15:NM_001385430:exon11:c.G508C:p.D170H,NBPF15:NM_001385431:exon11:c.G508C:p.D170H,NBPF15:NM_001385433:exon11:c.G508C:p.D170H,NBPF15:NM_001385434:exon11:c.G508C:p.D170H,NBPF15:NM_001385436:exon11:c.G508C:p.D170H,NBPF15:NM_001385442:exon11:c.G508C:p.D170H,NBPF15:NM_001385444:exon11:c.G508C:p.D170H,NBPF15:NM_001385378:exon12:c.G508C:p.D170H,NBPF15:NM_001385406:exon12:c.G508C:p.D170H,NBPF15:NM_001385419:exon12:c.G508C:p.D170H,NBPF15:NM_001385421:exon12:c.G508C:p.D170H,NBPF15:NM_001385422:exon12:c.G508C:p.D170H,NBPF15:NM_001385425:exon12:c.G508C:p.D170H,NBPF15:NM_001385428:exon12:c.G508C:p.D170H,NBPF15:NM_001385429:exon12:c.G508C:p.D170H,NBPF15:NM_001385435:exon12:c.G508C:p.D170H,NBPF15:NM_001385437:exon12:c.G508C:p.D170H,NBPF15:NM_001170755:exon13:c.G508C:p.D170H,NBPF15:NM_001385426:exon13:c.G508C:p.D170H	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.1111	94.37	81	chr1	144435839	.	C	G	94.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-1.191;DP=651;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=32.81;MQRankSum=-2.458;QD=0.96;ReadPosRankSum=2.2;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,4:43:51:0|1:144435839_C_G:51,0,1626:144435839	7	0	2	1
chr1	145686561	145686561	C	T	exonic	PDZK1	.	nonsynonymous SNV	PDZK1:NM_001201325:exon3:c.G376A:p.G126S,PDZK1:NM_001201326:exon3:c.G376A:p.G126S,PDZK1:NM_001371359:exon3:c.G376A:p.G126S,PDZK1:NM_002614:exon4:c.G376A:p.G126S	.	473	1038	8	3	0	14	0.00669856	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.00496683770762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs148919265	0.0075	0.0075	0.0076	0.0073	0.0088	0.0073	0.0073	0.0086	0.0086	0.0012	0.0021	0.0010	0	0.0023	0.0036	0.0088	0.0058	0.0054	0.0049	0.0049	0.0052	0.0045	0.0086	0.0046	0.0045	0.0081	0.0078	0.0016	0.0011	0.0024	0.0009	0	0.0016	0	0.0086	0.0043	0.0037	0.499	0.09458	T	0.623	0.07368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.71	0.31205	T	-0.73	0.20576	N	0.154	0.15888	.	.	.	.	.	.	.	0.013003588	0.00277	T	.	.	.	.	.	.	.	.	.	0.7411778002221158	0.74063	.	.	.	.	.	0.112208	0.42830	T	.	.	.	.	.	.	.	.	.	0.780122	0.41468	T	.	.	.	.	.	.	.	.	-1.972	0.03343	T	.	.	0.076	0.06024	B	.;.;.;.	.;.;.;.	0.171449	0.05604	2.058	.	.	.	.	.	.	0.376490	0.46062	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.379000	0.43973	2.230000	0.31524	0.310000	0.19122	0.019000	0.19563	0.010000	0.20010	0.105000	0.18517	.	.	.	272	0.89337	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	781.43	34	chr1	145686561	.	C	T	781.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.246;DP=406;ExcessHet=0;FS=2.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.82;MQRankSum=2.23;QD=8.59;ReadPosRankSum=0.999;SOR=0.612	GT:AD:DP:GQ:PL	0/1:55,36:91:99:793,0,1337	9	0	1	0
chr1	145898985	145898985	C	T	exonic	ITGA10	.	nonsynonymous SNV	ITGA10:NM_001303041:exon13:c.G1754A:p.R585Q,ITGA10:NM_001303040:exon14:c.G1790A:p.R597Q,ITGA10:NM_003637:exon17:c.G2183A:p.R728Q	.	428	1093	1	0	0	1	0.000457247	.	.	.	3690601	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.141	0.00204105273759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0001	5.445e-05	0.0002	0.0016	9.091e-05	8.598e-05	0.0014	0.0013	0	2.236e-05	0	5.038e-05	0	0.0002	2.698e-06	9.934e-05	0.0016	7.223e-05	7.874e-05	5.14e-05	9.399e-05	0.0017	3.968e-05	3.125e-05	0.0008	0.0006	0	0	6.533e-05	0	0	0	0	0	0.0009	0.0017	0.534	0.06935	T	0.388	0.15698	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	0.43672	T	0.65	0.02332	N	0.031	0.01203	.	.	.	.	.	.	.	0.031131297	0.01245	T	.	.	.	.	.	.	.	.	.	0.8904752034209013	0.89017	.	.	.	.	.	0.033471	0.22927	T	.	.	.	.	.	.	.	.	.	0.80392	0.45144	T	.	.	.	.	.	.	.	.	-2.764	0.07856	T	.	.	0.066	0.04932	B	.;.	.;.	1.423789	0.18411	13.72	.	.	.	.	.	.	0.041325	0.06266	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033000	0.13642	-1.652000	0.04982	0.596000	0.33519	0.226000	0.24601	0.000000	0.08366	0.949000	0.49496	.	.	.	934	0.15400	Integrin alpha-2;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2018.43	43	chr1	145898985	.	C	T	2018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.749;DP=538;ExcessHet=0;FS=1.194;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.611;SOR=0.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,86:168:99:0|1:145898985_C_T:2030,0,1973:145898985	9	0	1	0
chr1	148557530	148557530	T	C	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon35:c.A4460G:p.D1487G	.	495	1026	1	0	0	1	0.000487092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0004	0.0003	0.0006	0.0062	0.0004	0.0004	0.0057	0.0055	0	0	0	3.255e-05	0	0	5.82e-06	0.0003	0.0062	0.0002	0.0002	0.0002	0.0002	0.0069	0.0001	0.0001	0.0048	0.0041	0	0	0	0	0	0	0	0	0	0.0069	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.018124968	0.00392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.870213	0.61827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49226	B	.;.	.;.	1.609953	0.20572	14.81	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758000	0.26113	0.236000	0.16249	0.319000	0.19345	0.004000	0.16614	0.000000	0.08366	0.009000	0.08673	.	.	.	929	0.16858	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) 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	.	.	.	.	.	.	.	.	0.05	982.43	34	chr1	148557530	.	T	C	982.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.218;DP=432;ExcessHet=0;FS=2.242;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=36.45;MQRankSum=-1.207;QD=7.62;ReadPosRankSum=0.562;SOR=0.906	GT:AD:DP:GQ:PL	0/1:74,55:129:99:994,0,1569	9	0	1	0
chr1	149080125	149080125	A	C	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon3:c.T206G:p.F69C,NBPF9:NM_001277444:exon3:c.T206G:p.F69C	.	428	1033	59	0	2	61	0.0277647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	.	.	.	0.0033	0.0145	0.0009	0	0.0012	0.0027	0.0023	0.0042	.	.	.	rs1390912950	0.0002	0.0010	0.0002	0.0002	0.0007	0.0002	0.0002	0.0004	0.0004	0.0007	2.254e-05	0	0	0	0	0.0002	0.0001	1.217e-05	1.317e-05	4.599e-05	1.287e-05	1.348e-05	2.424e-05	2.19e-06	8.2e-07	.	.	2.424e-05	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.06	0.46406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.25377	-0.8915	0.48802	T	0.003	0.00929	T	6	0.006337911	0.00143	T	.	.	.	.	.	.	.	0.33085137897	0.32697	.	.	.	.	0.562167644501	0.47573	T	.	.	.	-0.00962353	0.50319	T	-0.2516	0.49658	T	0.00364377396181226	0.00039	T	0.776122	0.54441	T	0.07975494	0.18237	0.11654482	0.28135	0.07975494	0.18236	0.11654482	0.28134	-8.196	0.62519	D	.	.	0.208	0.66592	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.307220	0.17096	12.96	0.63452259433326419	0.07228	0.00133	0.00820	N	AEBI	0.030160	0.02983	N	-1.27017796842118	0.04039	0.1815783	-1.42974027466438	0.02958	0.1371134	1.34789044892587E-6	0.01202	0.660377	0.49826	0	0.694456	0.67091	0	0.602189	0.34648	0	0.508809	0.08732	0	.	.	0.521	0.521	0.16244	0.257000	0.18137	2.458000	0.32842	-0.610000	0.04588	0.000000	0.06391	0.053000	0.21875	0.001000	0.02609	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	823.14	232	chr1	149080125	.	A	C	823.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.97;DP=1527;ExcessHet=0.2348;FS=1.567;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=35.95;MQRankSum=-1.631;QD=2.12;ReadPosRankSum=-0.641;SOR=0.814	GT:AD:DP:GQ:PL	0/1:111,43:154:99:680,0,2737	8	0	2	0
chr1	149936633	149936633	-	C	exonic	MTMR11	.	frameshift insertion	MTMR11:NM_001145862:exon1:c.14dupG:p.R6Pfs*23	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.00259585	0.0020	0.0005	0.0026	0.0017	0	0.0039	0	0.0005	0.0001153	3	26028	rs587606143	0.0060	0.0058	0.0062	0.0057	0.0050	0.0059	0.0058	0.0049	0.0048	0.0005	0.0008	0.0007	0.0002	0.0533	0.0011	0.0050	0.0038	0.0005	0.0071	0.0072	0.0050	0.0093	0.0057	0.0067	0.0066	0.0052	0.0050	0.0007	0	0.0011	0.0014	0.0008	0.0591	0.0034	0.0057	0.0033	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	991.1	36	chr1	149936633	.	G	GC	991.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.424;DP=340;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.233;SOR=0.606	GT:AD:DP:GQ:PL	0/1:10,21:31:99:549,0,214	8	0	2	0
chr1	151289123	151289123	G	A	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon4:c.G2323A:p.G775S,ZNF687:NM_020832:exon4:c.G2323A:p.G775S,ZNF687:NM_001304763:exon5:c.G2323A:p.G775S	Paget disease of bone 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2350535	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.166	0.0241773340193	7.7e-05	0.000199681	3.302e-05	0.0003	0	0	0	0	0	6.083e-05	3.23e-05	5	154602	rs147334222	2.668e-05	2.668e-05	1.77e-05	3.575e-05	0.0007	1.997e-05	1.754e-05	0.0004	0.0004	0.0007	0.0002	0	0	0	0	1.799e-06	9.935e-05	2.319e-05	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	0	0	0	0.09	0.31987	T	0.056	0.46632	T	0.933	0.52105	P	0.699	0.54128	P	0.002823	0.35868	N	0.000000	0.999999	0.58761	D	0.935	0.23595	L	4.47	0.02084	T	-0.36	0.13035	N	0.379	0.42050	-0.7867	0.55921	T	0.005	0.01797	T	10	0.15305829	0.28898	T	0.024177	0.47165	T	0.166	0.42578	.	.	0.198222871337	0.19423	0.5190740119565079	0.51830	0.596461484873	0.54886	0.764130473137	0.76546	T	0.018622	0.14980	T	-0.4156	0.01826	T	-0.528781	0.19409	T	0.149162983300675	0.17036	T	0.851815	0.53646	D	0.057768937	0.11537	0.07308248	0.15842	0.057768937	0.11536	0.07308248	0.15842	-8.558	0.64812	D	.	.	0.253	0.48766	B	.;.	.;.	4.083957	0.60771	24.3	0.9972705003914567	0.82477	0.97560	0.75550	D	AEFDGBCI	0.929634	0.91569	D	0.0857984092434183	0.45800	2.830606	0.135219520339059	0.46362	2.883556	0.999999997330742	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.68	3.76	0.42368	5.786000	0.68654	6.761000	0.56536	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0868:0.0:0.9132:0.0	11.846	0.51658	91	0.96221	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3461.43	34	chr1	151289123	.	G	A	3461.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.701;DP=650;ExcessHet=0;FS=1.813;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.689;SOR=0.595	GT:AD:DP:GQ:PL	0/1:172,158:330:99:3473,0,4084	9	0	1	0
chr1	152110481	152110481	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G2736C:p.E912D	.	.	.	.	.	.	.	.	.	.	.	718222	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.007	0.0094612221149	0.0022	0.00279553	0.0008	0.0082	0.0006	0	0	4.497e-05	0	6.088e-05	0.000705	109	154602	rs143222885	0.0003	0.0003	0.0004	0.0003	0.0076	0.0003	0.0003	0.0068	0.0065	0.0076	0.0008	0	0	0	0.0009	0.0001	0.0005	2.327e-05	0.0023	0.0023	0.0025	0.0022	0.0082	0.0021	0.0021	0.0074	0.0072	0.0082	0	0.0005	0	0.0002	0	0	0.0001	0.0005	0	0.0	0.91255	D	0.563	0.09022	T	0.139	0.27501	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	0	0.06538	N	3.42	0.05507	T	-0.29	0.11728	N	0.101	0.08506	-0.9080	0.47097	T	0.003	0.01092	T	9	0.0032268167	0.00055	T	0.009461	0.24786	T	0.007	0.00512	0.358	0.36060	0.314716216878	0.31082	0.029712328873895966	0.02920	0.241407247156	0.26664	0.282814204693	0.07888	T	0.001129	0.00635	T	-0.593821	0.00159	T	-0.619503	0.11224	T	0.0333703709589778	0.02533	T	0.191181	0.02047	T	0.117134504	0.27617	0.14779852	0.34961	0.117134504	0.27617	0.14779852	0.34961	-6.524	0.50472	T	.	.	0.302	0.53151	B	.;.	.;.	1.622089	0.20720	14.88	0.6886709916982241	0.08791	0.04000	0.09424	N	ALL	0.053280	0.09586	N	-1.07597103092534	0.07088	0.3282463	-1.1388658080374	0.06969	0.3373194	0.999999992807045	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.616487	0.41570	0	0.554799	0.18163	0	.	.	2.11	1.17	0.19998	0.323000	0.19340	.	.	0.483000	0.22176	0.000000	0.06391	0.001000	0.17328	0.014000	0.10232	0.0:0.8394:0.0:0.1606	6.742	0.22630	479	0.77495	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003021	0.000000	0.008152	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1454.43	68	chr1	152110481	.	C	G	1454.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.938;DP=714;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.095;SOR=0.712	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1466,0,1507	9	0	1	0
chr1	152111858	152111860	CTC	-	exonic	TCHH	.	nonframeshift deletion	TCHH:NM_007113:exon3:c.1357_1359del:p.E453del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00279553	0.0008	0.0082	0.0006	0	0	4.507e-05	0	6.059e-05	0.0001153	3	26028	rs146085887	0.0003	0.0003	0.0003	0.0003	0.0071	0.0003	0.0003	0.0063	0.0061	0.0071	0.0008	0	0	0	0.0009	0.0001	0.0006	5.832e-05	0.0016	0.0016	0.0016	0.0015	0.0056	0.0014	0.0013	0.0049	0.0046	0.0056	0	0.0005	0	0	0	0	0.0001	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002523	0.000000	0.006793	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1751.39	40	chr1	152111857	.	TCTC	T	1751.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.414;DP=482;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.77;MQRankSum=1.13;QD=21.36;ReadPosRankSum=-2.227;SOR=0.718	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1763,0,1399	9	0	1	0
chr1	152215073	152215073	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6556A:p.G2186S	.	413	1058	51	0	0	51	0.0235348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	.	0.0002	.	0.0028	0.0009	0.0004	0.0003	0	0.0013	0.0015	0.0132	0.0017076	264	154602	rs369310118	0.0004	0.0016	0.0003	0.0005	0.0035	0.0004	0.0004	0.0031	0.0030	0.0002	6.77e-05	0.0013	2.521e-05	1.89e-05	0.0032	0.0002	0.0005	0.0035	0.0003	0.0006	0.0003	0.0004	0.0047	0.0003	0.0002	0.0032	0.0027	0.0001	0	6.704e-05	0.0003	0	0	0	0.0003	0.0015	0.0047	0.031	0.45039	D	0.29	0.21011	T	0.89	0.48942	P	0.082	0.29098	B	.	.	.	.	1	0.08975	N	1.955	0.52871	M	4.46	0.02102	T	-0.75	0.21003	N	0.217	0.24260	-0.8940	0.48577	T	0.002	0.00526	T	9	0.006400287	0.00145	T	.	.	.	0.079	0.23065	.	.	0.337868961071	0.33390	0.023821135414630563	0.02333	.	.	0.574209809303	0.49272	T	0.016079	0.13364	T	-0.629641	0.00096	T	-0.674462	0.07325	T	0.00560276802564981	0.00061	T	0.332567	0.07018	T	0.04420956	0.07027	0.047306728	0.06787	0.04420956	0.07027	0.047306728	0.06786	-9.429	0.70417	D	.	.	0.117	0.23848	B	.	.	0.827833	0.11993	8.550	0.82080008091088474	0.14008	0.00254	0.01397	N	AEFBI	0.034004	0.04137	N	-0.901208047052108	0.10814	0.5186456	-1.13080107986528	0.07117	0.3450171	1.00382679385416E-4	0.04910	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.41	-3.96	0.03833	-1.323000	0.02800	.	.	0.591000	0.32079	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3675:0.1449:0.4876	5.364	0.15408	568	0.70638	.	.	.	.	.	.	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	0.005870	0.000000	0.001359	0.016667	0.000000	0.008621	0.009259	0.015385	0.05	2178.43	230	chr1	152215073	.	C	T	2178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.92;DP=2232;ExcessHet=0;FS=5.881;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=30.94;MQRankSum=0.949;QD=5.46;ReadPosRankSum=0.987;SOR=0.462	GT:AD:DP:GQ:PL	0/1:283,116:399:99:2190,0,6698	9	0	1	0
chr1	152215129	152215129	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6500A:p.R2167H	.	388	1133	1	0	0	1	0.000441112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	0.0025	.	0.0024	0.0276	0.0010	0.0001	0	0.0002	0.0011	0.0003	3.84e-05	1	26028	rs76307787	7.129e-05	0.0010	8.05e-05	6.199e-05	0.0030	5.993e-05	5.6e-05	0.0025	0.0023	0.0030	6.733e-05	0	0	0	0.0002	8.997e-07	9.974e-05	0	0.0014	0.0061	0.0014	0.0014	0.0047	0.0013	0.0012	0.0042	0.0039	0.0047	0	0.0016	0	0	0	0	2.941e-05	0.0005	0	0.256	0.16793	T	0.228	0.25286	T	0.991	0.64070	D	0.41	0.44785	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	4.4	0.02215	T	0.53	0.02808	N	0.057	0.02861	-0.8572	0.51463	T	0.003	0.00929	T	9	0.005711168	0.00127	T	.	.	.	0.054	0.15330	.	.	0.458283960492	0.45451	0.033886453359034854	0.03336	.	.	0.544039607048	0.45017	T	0.014025	0.12018	T	-0.340345	0.05364	T	-0.726659	0.04480	T	0.0225341743905536	0.00969	T	0.189581	0.02010	T	0.019419203	0.00472	0.029537719	0.01302	0.019419203	0.00472	0.029537719	0.01302	-9.525	0.71014	D	.	.	0.089	0.11941	B	.	.	0.807238	0.11783	8.354	0.8834170322412388	0.17901	0.00587	0.02638	N	AEFBI	0.030771	0.03161	N	-0.520475429842129	0.21419	1.13655	-0.721710515922399	0.16421	0.8685872	1.63978741130165E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.09	1.12	0.19700	-1.260000	0.02967	.	.	-0.820000	0.02968	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7517:0.0:0.2483	6.844	0.23161	568	0.70638	.	.	.	.	.	.	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	0.007962	0.000000	0.012228	0.012397	0.000000	0.017241	0.006135	0.000000	0.05	1477.43	1099	chr1	152215129	.	C	T	1477.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.81;DP=4821;ExcessHet=0;FS=7.694;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.49;MQRankSum=-1.609;QD=1.77;ReadPosRankSum=-3.99;SOR=1.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:747,89:836:99:0|1:152215129_C_T:1489,0,30729:152215129	9	0	1	0
chr1	152215142	152215142	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G6487A:p.G2163R	.	377	1142	3	0	0	3	0.00131176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	.	.	.	0.0021	0.0246	0.0007	0	0	0.0001	0.0011	0.0003	3.84e-05	1	26028	rs775442953	7.676e-05	0.0009	8.321e-05	7.024e-05	0.0034	6.503e-05	6.081e-05	0.0028	0.0026	0.0034	0	0	0	0	0.0002	8.996e-07	6.648e-05	0	0.0013	0.0060	0.0014	0.0012	0.0049	0.0012	0.0011	0.0043	0.0041	0.0049	0	0.0005	0	0	0	0	0	0	0	0.027	0.46513	D	0.513	0.10714	T	0.164	0.28467	B	0.02	0.19048	B	.	.	.	.	1	0.08975	N	1.78	0.46185	L	2.37	0.15964	T	-1.24	0.31375	N	0.115	0.10340	-0.9153	0.46181	T	0.007	0.02360	T	9	0.0070596933	0.00160	T	.	.	.	0.013	0.01715	0.29	0.25081	0.314417295294	0.31040	0.012611169085636087	0.01220	.	.	0.628767311573	0.56970	T	0.016955	0.13915	T	-0.304919	0.08204	T	-0.675771	0.07244	T	0.00423984126840606	0.00045	T	0.453455	0.12891	T	0.08986522	0.21009	0.07681789	0.17053	0.08986522	0.21008	0.07681789	0.17052	-9.77	0.72522	D	.	.	0.293	0.52442	B	.	.	0.313107	0.06882	3.416	0.84602546538052092	0.15388	0.02608	0.07182	N	AEFBI	0.029253	0.02728	N	-1.26459064237944	0.04110	0.1848759	-1.32738116894511	0.04080	0.19169	1.24246345123986E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.51	-0.816	0.10292	-0.106000	0.10860	.	.	0.584000	0.30380	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5377:0.1601:0.3022	4.710	0.12250	568	0.70638	.	.	.	.	.	.	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	0.006369	0.000000	0.010870	0.012295	0.000000	0.017241	0.000000	0.000000	0.05	1499.43	1289	chr1	152215142	.	C	T	1499.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=5664;ExcessHet=0;FS=5.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=35.09;MQRankSum=-1.871;QD=1.6;ReadPosRankSum=-1.354;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:835,101:936:99:0|1:152215129_C_T:1511,0,33927:152215129	9	0	1	0
chr1	152216539	152216539	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5090A:p.R1697H	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0008	.	0.0015	0.0177	0.0007	0	0	0.0001	0	0.0001	0.0013066	202	154602	rs147155372	0.0003	0.0011	0.0003	0.0003	0.0087	0.0002	0.0002	0.0078	0.0075	0.0087	0.0005	0.0002	2.622e-05	0	0.0009	3.964e-05	0.0006	0.0001	0.0048	0.0096	0.0046	0.0051	0.0168	0.0045	0.0044	0.0157	0.0153	0.0168	0	0.0025	0.0003	0	0	0.0039	0.0001	0.0037	0.0003	0.088	0.32296	T	0.236	0.24694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.74	0.01604	T	0.98	0.01447	N	0.055	0.02658	-0.9540	0.40274	T	0.002	0.00646	T	9	0.0040805936	0.00080	T	.	.	.	0.045	0.12272	.	.	0.184867976434	0.18130	0.03981449810652407	0.03927	.	.	0.443020343781	0.30990	T	0.014138	0.12091	T	-0.377501	0.03230	T	-0.78003	0.02452	T	0.00689922777791677	0.00078	T	0.230677	0.03117	T	0.018001338	0.00323	0.032038733	0.01879	0.018001338	0.00322	0.032038733	0.01879	-9.529	0.71039	D	.	.	0.094	0.14614	B	.	.	0.641780	0.10104	6.849	0.81979327576415273	0.13957	0.02032	0.06091	N	AEFI	0.024710	0.01573	N	-1.40839909054869	0.02564	0.1134066	-1.47200568872446	0.02577	0.1187333	1.57290069993394E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.88	-1.58	0.08029	-0.554000	0.06097	.	.	-4.950000	0.00017	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5788:0.0:0.4212	8.960	0.35006	569	0.70546	.	.	.	.	.	.	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	0.002648	0.000000	0.005435	0.004132	0.000000	0.000000	0.000000	0.000000	0.05	1865.43	192	chr1	152216539	.	C	T	1865.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.35;DP=2807;ExcessHet=0;FS=6.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.65;MQRankSum=1.82;QD=9.37;ReadPosRankSum=0.391;SOR=0.325	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,57:199:99:0|1:152216539_C_T:1877,0,5309:152216539	9	0	1	0
chr1	152216552	152216552	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G5077A:p.G1693R	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0008	.	0.0015	0.0170	0.0007	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs140441435	0.0003	0.0011	0.0003	0.0002	0.0083	0.0002	0.0002	0.0075	0.0072	0.0083	0.0005	0.0001	0	1.892e-05	0.0011	4.161e-05	0.0006	0.0001	0.0046	0.0091	0.0045	0.0047	0.0162	0.0043	0.0042	0.0151	0.0147	0.0162	0	0.0023	0.0003	0	0	0	7.679e-05	0.0039	0	0.014	0.53172	D	0.737	0.05036	T	0.02	0.18235	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	2.32	0.66415	M	4.59	0.01885	T	-1.71	0.40660	N	0.105	0.08925	-0.9381	0.42916	T	0.001	0.00467	T	9	0.0070360303	0.00160	T	.	.	.	0.011	0.01250	0.286	0.24440	0.318828661733	0.31499	0.013213045917889436	0.01279	.	.	0.51032936573	0.40269	T	0.017396	0.14198	T	-0.299816	0.08677	T	-0.668442	0.07708	T	0.0046805425629068	0.00050	T	0.452755	0.12846	T	0.08583757	0.19928	0.07435774	0.16259	0.08583757	0.19928	0.07435774	0.16259	-9.549	0.71163	D	.	.	0.293	0.52393	B	.	.	0.546363	0.09152	5.932	0.85331026945132604	0.15826	0.01332	0.04590	N	AEFI	0.031235	0.03297	N	-1.29279395537981	0.03761	0.1685979	-1.36864479814756	0.03591	0.1678097	1.78876457453815E-5	0.02871	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.13	-1.78	0.07527	-1.478000	0.02435	.	.	-1.106000	0.01499	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4305:0.1931:0.3764	3.692	0.07881	569	0.70546	.	.	.	.	.	.	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	0.001589	0.000000	0.004076	0.004132	0.000000	0.000000	0.000000	0.000000	0.05	1815.43	192	chr1	152216552	.	C	T	1815.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.971;DP=2775;ExcessHet=0;FS=4.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=28.89;MQRankSum=1.29;QD=10.62;ReadPosRankSum=-1.064;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,53:171:99:0|1:152216539_C_T:1827,0,4738:152216539	9	0	1	0
chr1	152218889	152218889	C	T	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.G2740A:p.G914S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	0.0064	0.00638978	0.0017	0.0178	0.0010	0.0002	0	0.0001	0	6.056e-05	0.0016559	256	154602	rs150329486	0.0007	0.0007	0.0008	0.0006	0.0175	0.0006	0.0006	0.0163	0.0159	0.0175	0.0012	0	0.0002	0	0.0012	0.0002	0.0015	6.957e-05	0.0049	0.0049	0.0051	0.0047	0.0166	0.0046	0.0045	0.0156	0.0152	0.0166	0	0.0023	0	0.0006	0	0	0.0002	0.0038	0	0.573	0.06125	T	0.995	0.02336	T	0.906	0.49993	P	0.079	0.28749	B	.	.	.	.	1	0.08975	N	0.79	0.19579	N	4.47	0.02084	T	0.48	0.03041	N	0.073	0.04668	-0.9162	0.46063	T	0.001	0.00378	T	9	0.0038478076	0.00073	T	.	.	.	0.038	0.09825	.	.	0.247322355667	0.24350	0.002395140940065346	0.00222	.	.	0.547664523125	0.45528	T	0.013393	0.11594	T	-0.746782	0.00019	T	-0.830541	0.01253	T	0.00463312138219259	0.00050	T	0.286771	0.05140	T	0.019365957	0.00465	0.03967883	0.04115	0.019365957	0.00465	0.03967883	0.04114	-6.018	0.46431	T	.	.	0.095	0.14706	B	.	.	0.181383	0.05688	2.136	0.71513911445712808	0.09655	0.00438	0.02140	N	AEFBI	0.022896	0.01203	N	-1.1325469797088	0.06072	0.2785413	-1.30970758777482	0.04304	0.2027178	5.6834665638494E-5	0.04171	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.6	-3.63	0.04238	-2.207000	0.01314	.	.	-1.084000	0.01555	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5327:0.0:0.4673	9.434	0.37792	570	0.70478	.	.	.	.	.	.	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	0.003171	0.000000	0.006793	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	5071.43	304	chr1	152218889	.	C	T	5071.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.04;DP=2617;ExcessHet=0;FS=2.173;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.95;MQRankSum=0.015;QD=13.07;ReadPosRankSum=1.93;SOR=0.819	GT:AD:DP:GQ:PL	0/1:192,196:388:99:5083,0,4580	9	0	1	0
chr1	152303961	152303961	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T10925C:p.I3642T	Ichthyosis vulgaris, Autosomal dominant	1	1515	6	0	0	6	0.00197628	.	.	YES	1195849	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.027	.	0.0069	.	0.0035	0.0385	0.0013	0	0	0.0004	0.0011	0.0004	0.0005763	15	26028	rs150010190	0.0011	0.0014	0.0013	0.0010	0.0320	0.0011	0.0011	0.0304	0.0297	0.0320	0.0018	0.0008	5.038e-05	0	0.0033	0.0003	0.0021	0.0004	0.0058	0.0085	0.0060	0.0057	0.0206	0.0055	0.0054	0.0195	0.0190	0.0206	0	0.0017	0	0	0	0	0.0002	0.0024	0	1.0	0.00964	T	.	.	.	0.081	0.24602	B	0.017	0.18140	B	.	.	.	.	1	0.08975	N	-0.71	0.01811	N	3.86	0.03624	T	0.43	0.03297	N	0.038	0.01203	-0.9336	0.43605	T	0.002	0.00615	T	9	0.0039396286	0.00075	T	.	.	.	0.027	0.05988	.	.	0.0401082797425	0.02173	0.010551573171303709	0.01016	.	.	0.28362852335	0.08003	T	0.012736	0.11141	T	-0.784356	0.00010	T	-0.875764	0.00690	T	3.21378574881237e-05	0.00000	T	0.237776	0.03353	T	0.021012286	0.00683	0.053564195	0.09047	0.021012286	0.00683	0.053564195	0.09046	-5.241	0.39356	T	.	.	0.069	0.03060	B	.	.	-0.719614	0.01275	0.067	0.35760694279240979	0.02262	0.00017	0.00201	N	AEFBI	0.012907	0.00155	N	-1.46307970545098	0.02116	0.0930999	-1.42371780322069	0.03016	0.1399039	1.59035186883024E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	4.59	1.5	0.22029	-0.328000	0.07988	.	.	-0.896000	0.02358	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0973:0.1616:0.7411:0.0	8.009	0.29503	557	0.71576	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005826	0.000000	0.012228	0.008197	0.000000	0.008621	0.000000	0.000000	0.05	10298.4	649	chr1	152303961	.	A	G	10298.4	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.102;DP=3491;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=38.49;MQRankSum=-0.964;QD=7.15;ReadPosRankSum=2.28;SOR=0.66	GT:AD:DP:GQ:PL	0/1:896,545:1441:99:10310,0,25224	9	0	1	0
chr1	152308194	152308194	G	T	exonic	FLG	.	stopgain	FLG:NM_002016:exon3:c.C6692A:p.S2231X	Ichthyosis vulgaris, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0960463	0.0738	0.0499	0.1290	0.1770	0.0452	0.0409	0.0874	0.1414	0.0185185	482	26028	rs536240526	4.279e-05	0.0025	4.326e-05	4.232e-05	0.0010	3.395e-05	3.077e-05	0.0007	0.0006	0.0010	4.667e-05	4.046e-05	0.0004	0	0	5.466e-06	0.0002	1.188e-05	0.0006	0.0029	0.0006	0.0006	0.0028	0.0005	0.0005	0.0022	0.0020	0.0028	0	0.0002	0	0	0	0	1.689e-05	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.284	0.32148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336259	0.85584	D	0.245237	0.85395	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	5.828627	0.93730	33	0.94689239606745224	0.25331	0.01165	0.04195	N	AEFBI	0.017660	0.00478	N	-0.263201740900834	0.30579	1.706429	-0.647889126147857	0.18270	0.9752533	1.8516116629361E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.46	1.53	0.22224	0.240000	0.17822	.	.	-1.591000	0.00906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1685:0.0:0.8315:0.0	5.470	0.15957	563	0.71062	.	.	.	.	.	.	Benign	1	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	.	.	.	.	.	.	.	.	0.05556	193.05	541	chr1	152308194	.	G	T	193.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=6.68;DP=2312;ExcessHet=0;FS=10.327;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=57.98;MQRankSum=-13.64;QD=0.32;ReadPosRankSum=-5.947;SOR=2.267	GT:AD:DP:GQ:PL	0/1:560,45:605:99:204,0,23379	8	0	1	1
chr1	152308195	152308195	A	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6691G:p.S2231A	Ichthyosis vulgaris, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	0.0960463	0.0740	0.0504	0.1302	0.1788	0.0451	0.0409	0.0876	0.1417	0.0185185	482	26028	rs556324776	6.34e-05	0.0031	7.006e-05	5.667e-05	0.0013	5.246e-05	4.855e-05	0.0010	0.0009	0.0013	2.351e-05	4.081e-05	0.0005	0	0	1.918e-05	0.0002	1.197e-05	0.0007	0.0029	0.0007	0.0007	0.0031	0.0006	0.0005	0.0025	0.0023	0.0031	0	0.0003	0	0	0.0001	0	1.714e-05	0.0007	0	0.361	0.11882	T	.	.	.	0.001	0.07471	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.165	0.04321	N	3.75	0.03922	T	-0.76	0.21215	N	0.008	0.00068	-0.9703	0.37136	T	0.001	0.00408	T	9	0.0016847253	0.00021	T	.	.	.	0.020	0.03691	.	.	.	.	0.023400691961431297	0.02292	.	.	0.250265181065	0.03796	T	0.01042	0.09410	T	-0.421068	0.01684	T	-0.842611	0.01060	T	0.0111847063957195	0.00164	T	0.113289	0.00862	T	0.049661875	0.08852	0.0466271	0.06541	0.049661875	0.08852	0.0466271	0.06541	-1.481	0.01726	T	.	.	0.07	0.03479	B	.	.	-0.108554	0.03590	0.701	0.38466588929725054	0.02596	0.00127	0.00790	N	AEFBI	0.024979	0.01634	N	-2.80467277842901	0.00003	0.0001331835	-2.84999607398235	0.00003	0.0001554434	0.937587305439055	0.27304	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.67	-5.35	0.02488	-0.933000	0.04067	.	.	-0.700000	0.04059	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3562:0.4539:0.1899:0.0	6.785	0.22854	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	358.05	541	chr1	152308195	.	A	C	358.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=8.71;DP=2317;ExcessHet=0;FS=12.443;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=57.95;MQRankSum=-13.61;QD=0.59;ReadPosRankSum=-6.616;SOR=2.073	GT:AD:DP:GQ:PL	0/1:561,49:610:99:369,0,23409	8	0	1	1
chr1	152308209	152308209	C	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G6677T:p.G2226V	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.183307	0.0814	0.0632	0.1473	0.1924	0.0496	0.0461	0.0930	0.1461	0.0354234	922	26028	rs544807449	0.0005	0.0052	0.0005	0.0005	0.0130	0.0004	0.0004	0.0117	0.0113	0.0130	0.0008	0.0003	0.0046	0.0001	0.0013	5.441e-05	0.0017	0.0003	0.0018	0.0036	0.0016	0.0020	0.0088	0.0016	0.0015	0.0077	0.0072	0.0088	0	0.0005	0	0.0012	0.0004	0	5.587e-05	0.0015	0.0012	0.105	0.29823	T	.	.	.	0.868	0.47740	P	0.372	0.43610	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	3.29	0.06445	T	-2.19	0.49352	N	0.076	0.05037	-0.9736	0.36431	T	0.005	0.01578	T	9	0.0030772686	0.00051	T	.	.	.	0.165	0.42395	.	.	.	.	0.04323361185617763	0.04268	.	.	0.259808212519	0.04868	T	0.028284	0.20524	T	-0.29482	0.09157	T	-0.661265	0.08180	T	0.0260858363473376	0.01417	T	0.40156	0.10241	T	0.10558327	0.24963	0.10160429	0.24329	0.10558327	0.24963	0.10160429	0.24329	-6.387	0.49408	T	.	.	0.163	0.36053	B	.	.	0.777234	0.11474	8.076	0.62904335362991759	0.07083	0.02780	0.07486	N	AEFBI	0.039599	0.05774	N	-0.779306879523823	0.13850	0.6853526	-1.02305830469118	0.09279	0.460741	2.08373560863147E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.93	-1.95	0.07135	-0.009000	0.12703	.	.	0.291000	0.18778	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2337:0.3704:0.2307:0.1652	0.807	0.01016	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1417.52	583	chr1	152308209	.	C	A	1417.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=2.83;DP=2619;ExcessHet=0;FS=4.276;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=58;MQRankSum=-12;QD=2.19;ReadPosRankSum=-6.705;SOR=1.3	GT:AD:DP:GQ:PL	0/1:572,75:647:99:1427,0,23792	6	0	1	3
chr1	152308212	152308212	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6674C:p.V2225A	Ichthyosis vulgaris, Autosomal dominant	0	1511	11	0	0	11	0.00362677	.	.	.	1245031	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.037	.	.	0.183307	0.0849	0.0676	0.1618	0.2071	0.0519	0.0475	0.0976	0.1499	0.0354234	922	26028	rs116918835	0.0009	0.0054	0.0009	0.0009	0.0197	0.0008	0.0008	0.0181	0.0175	0.0197	0.0013	0.0008	0.0076	0.0002	0.0014	0.0001	0.0026	0.0020	0.0022	0.0037	0.0020	0.0024	0.0108	0.0019	0.0018	0.0095	0.0090	0.0108	0	0.0006	0	0.0014	0.0004	0	7.611e-05	0.0008	0.0013	1.0	0.00964	T	.	.	.	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.18	0.09070	N	3.97	0.03326	T	0.73	0.02068	N	0.021	0.00339	-0.9292	0.44256	T	0.002	0.00526	T	8	0.0012171268	0.00013	T	.	.	.	0.037	0.09474	.	.	.	.	0.028666542745717876	0.02816	.	.	0.285316556692	0.08245	T	0.009382	0.08542	T	-0.378214	0.03197	T	-0.781055	0.02422	T	0.000276302609008336	0.00002	T	0.166283	0.01543	T	0.032984942	0.03429	0.09148293	0.21510	0.032984942	0.03429	0.09148293	0.21510	-4.226	0.27126	T	.	.	0.061	0.01075	B	.	.	-0.504175	0.01853	0.149	0.39177539384107868	0.02688	0.00100	0.00648	N	AEFBI	0.016280	0.00357	N	-1.58518500512031	0.01340	0.05839091	-1.65704622896125	0.01340	0.06047888	1.29783415351714E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.693	-0.944	0.09862	-1.778000	0.01875	.	.	-2.058000	0.00414	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	563	0.71062	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.010101	0.001359	0.005848	0.000000	0.008621	0.009146	0.003788	0.0625	1675.73	515	chr1	152308212	.	A	G	1675.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=11.59;DP=2562;ExcessHet=0;FS=5.589;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=58.03;MQRankSum=-11.25;QD=2.55;ReadPosRankSum=-5.69;SOR=1.276	GT:AD:DP:GQ:PL	0/1:574,83:657:99:1686,0,23781	7	0	1	2
chr1	152308240	152308240	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T6646C:p.W2216R	Ichthyosis vulgaris, Autosomal dominant	0	1519	2	0	1	3	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	.	.	0.0011	0.0113	0.0002	0	0	0.0001	0	0.0002	3.84e-05	1	26028	rs750334731	6.16e-06	0.0003	5.449e-06	6.879e-06	0.0001	2.9e-06	2.1e-06	4.124e-05	2.401e-05	0.0001	2.238e-05	0	2.519e-05	0	0	1.799e-06	1.659e-05	0	0.0004	0.0055	0.0004	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0014	0	0.0001	0	0	0	0	1.472e-05	0	0	0.884	0.02519	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.74	0.01604	T	0.57	0.02638	N	0.041	0.01421	-0.9918	0.32141	T	0.001	0.00287	T	9	0.006183088	0.00139	T	.	.	.	0.015	0.02232	0.275	0.22687	0.134241683229	0.13084	0.017096601575852525	0.01664	.	.	0.21634504199	0.01109	T	0.012107	0.10698	T	-0.519008	0.00446	T	-0.814167	0.01574	T	0.0325369226154847	0.02394	T	0.142786	0.01162	T	0.030487433	0.02720	0.048043367	0.07052	0.030487433	0.02720	0.048043367	0.07051	3.097	0.00019	T	.	.	0.097	0.15877	B	.	.	0.174176	0.05627	2.079	0.58310186660061003	0.05964	0.00015	0.00188	N	AEFBI	0.012262	0.00129	N	-1.48502118576232	0.01955	0.08584978	-1.49893989338641	0.02353	0.1081092	1.49699493291343E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.46	1.46	0.21769	-1.509000	0.02368	.	.	-0.608000	0.04593	0.000000	0.06391	0.007000	0.19602	0.000000	0.00833	0.2291:0.0:0.7709:0.0	4.096	0.09465	563	0.71062	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	70.43	515	chr1	152308240	.	A	G	70.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.954;DP=2710;ExcessHet=0;FS=1.102;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.18;MQRankSum=-13.27;QD=0.09;ReadPosRankSum=-5.215;SOR=0.836	GT:AD:DP:GQ:PL	0/1:754,56:810:82:82,0,31492	9	0	1	0
chr1	152309148	152309148	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5738C:p.N1913T	Ichthyosis vulgaris, Autosomal dominant	0	1518	3	0	1	4	0.000987167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.000758759005081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs541394374	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	0.0025	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	6.573e-05	0	0	0	0	1.473e-05	0	0	0.305	0.14256	T	.	.	.	0.911	0.50336	P	0.579	0.50152	P	.	.	.	.	1	0.08975	N	1.265	0.31966	L	4.7	0.01673	T	-0.16	0.09460	N	0.07	0.04307	-0.9710	0.36988	T	0.002	0.00707	T	9	0.06515136	0.08748	T	7.59E-4	0.00549	T	0.057	0.16321	0.315	0.29096	0.0716867268079	0.06686	0.0015192893771644796	0.00140	.	.	0.246517330408	0.03409	T	0.012997	0.11321	T	-0.42283	0.01641	T	-0.845143	0.01024	T	0.169582322693503	0.18552	T	0.324568	0.06628	T	0.080356464	0.18408	0.065636255	0.13332	0.080356464	0.18408	0.065636255	0.13331	-3.966	0.23293	T	.	.	0.188	0.40554	B	.	.	-1.053360	0.00698	0.020	0.25207745535954701	0.01151	0.00897	0.03520	N	AEFBI	0.036746	0.04945	N	-1.95268531002226	0.00267	0.01145097	-2.23221538702727	0.00095	0.004161579	0.999995353605371	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-6.9	0.01496	-4.975000	0.00192	.	.	-3.412000	0.00088	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.096:0.452:0.2904:0.1617	5.405	0.15616	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	795.43	532	chr1	152309148	.	T	G	795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=2808;ExcessHet=0;FS=2.014;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.34;MQRankSum=-13.56;QD=1.24;ReadPosRankSum=-3.683;SOR=0.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:583,61:644:99:0|1:152309148_T_G:807,0,24059:152309148	9	0	1	0
chr1	152309149	152309149	T	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5737C:p.N1913H	Ichthyosis vulgaris, Autosomal dominant	0	1518	4	0	0	4	0.00131579	.	.	.	1164847	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	.	.	0.0081869	0.0021	0.0224	0.0010	0	0	8.99e-05	0	0	0.0016136	42	26028	rs561463895	0.0006	0.0009	0.0007	0.0006	0.0201	0.0006	0.0006	0.0188	0.0183	0.0201	0.0011	0	2.519e-05	0	0.0037	6.927e-05	0.0014	0.0002	0.0061	0.0083	0.0063	0.0059	0.0215	0.0058	0.0057	0.0203	0.0198	0.0215	0	0.0024	0	0	0	0.0068	0.0001	0.0053	0.0002	0.314	0.13834	T	.	.	.	0.022	0.18677	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	0.02	0.07987	N	5.01	0.01308	T	0.47	0.03090	N	0.088	0.06587	-0.8877	0.49130	T	0.001	0.00408	T	9	0.0038010776	0.00071	T	.	.	.	0.028	0.06331	.	.	0.119812018005	0.11559	0.0028406063628844402	0.00264	.	.	0.239344403148	0.02732	T	0.01052	0.09491	T	-0.766611	0.00014	T	-0.860334	0.00839	T	0.00269116279263132	0.00028	T	0.275372	0.04709	T	0.042536438	0.06470	0.041122578	0.04604	0.042536438	0.06470	0.041122578	0.04604	0.936	0.00140	T	.	.	0.084	0.09772	B	.	.	-1.565117	0.00258	0.004	0.450417971896859	0.03506	0.00139	0.00851	N	AEFBI	0.019488	0.00682	N	-1.51631893579081	0.01742	0.07628056	-1.6477246330247	0.01388	0.06269787	0.00109989909081102	0.08217	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.45	-5.76	0.02183	-1.826000	0.01799	.	.	-1.789000	0.00640	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2638:0.1987:0.5375	7.455	0.26429	564	0.70960	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.010042	0.020202	0.020380	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	816.43	532	chr1	152309149	.	T	G	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=2807;ExcessHet=0;FS=2.014;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.34;MQRankSum=-13.67;QD=1.28;ReadPosRankSum=-3.354;SOR=0.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:576,61:637:99:0|1:152309148_T_G:828,0,23865:152309148	9	0	1	0
chr1	152312297	152312297	C	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.G2589C:p.R863S	Ichthyosis vulgaris, Autosomal dominant	0	1506	15	0	1	16	0.0049554	.	.	.	1195869	FLG-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.014	0.00455718386317	0.0027	0.00299521	0.0013	0.0084	0.0009	0	0	0.0002	0	0.0031	0.0011578	179	154602	rs149855516	0.0005	0.0005	0.0005	0.0006	0.0079	0.0005	0.0005	0.0072	0.0069	0.0079	0.0010	0	7.557e-05	7.488e-05	0.0017	0.0001	0.0008	0.0032	0.0026	0.0026	0.0026	0.0025	0.0079	0.0023	0.0023	0.0072	0.0069	0.0079	0	0.0022	0	0.0002	9.497e-05	0	0.0002	0	0.0023	1.0	0.00964	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.035	0.05024	N	5.58	0.00843	T	2.34	0.00278	N	0.054	0.02559	-0.9111	0.46719	T	0.000	0.00152	T	9	0.004664898	0.00098	T	0.004557	0.11252	T	0.014	0.01968	.	.	0.0716867268079	0.06686	0.06347440224965822	0.06286	.	.	0.234674930573	0.02331	T	0.01273	0.11134	T	-0.722244	0.00027	T	-0.803691	0.01812	T	0.000580257885496856	0.00005	T	0.316468	0.06291	T	0.07270883	0.16195	0.05372356	0.09104	0.07270883	0.16195	0.05372356	0.09103	-7.778	0.59547	D	.	.	0.089	0.12181	B	.	.	-1.168666	0.00563	0.014	0.44239524625645671	0.03387	0.00025	0.00253	N	AEFBI	0.018053	0.00518	N	-1.96052580780369	0.00257	0.01101426	-2.04367172998558	0.00247	0.01089423	0.0874755642667334	0.16035	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.78	-7.55	0.01185	-1.981000	0.01580	.	.	-0.614000	0.04577	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1634:0.4421:0.1716:0.2229	2.908	0.05374	592	0.68746	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	5125.43	432	chr1	152312297	.	C	G	5125.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.327;DP=2287;ExcessHet=0;FS=3.232;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=56.38;MQRankSum=-10.84;QD=11.62;ReadPosRankSum=1.38;SOR=0.486	GT:AD:DP:GQ:PL	0/1:237,204:441:99:5137,0,6218	9	0	1	0
chr1	152985356	152985356	C	0	exonic	SPRR1A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6456.03	112	chr1	152985356	.	C	*	6456.03	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.115;DP=772;ExcessHet=4.5998;FS=2.451;InbreedingCoeff=-0.4286;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=0;QD=10.67;ReadPosRankSum=1.11;SOR=0.546	GT:AD:DP:GQ:PL	0/1:35,37:72:99:1372,0,1308	9	0	1	0
chr1	153760378	153760378	C	G	exonic	INTS3	.	nonsynonymous SNV	INTS3:NM_023015:exon12:c.C1305G:p.D435E,INTS3:NM_001324475:exon13:c.C1305G:p.D435E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0101042060593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	3.763e-05	5.452e-06	2.753e-06	5.404e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.404e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.096	0.39340	T	0.99	0.63424	D	0.971	0.76916	D	0.000000	0.84330	D	0.000000	0.999453	0.47118	D	.	.	.	.	.	.	-3.57	0.68999	D	0.889	0.88798	-0.8647	0.50922	T	0.172	0.51484	T	9	0.8319566	0.82357	D	0.010104	0.26235	T	0.557	0.81774	.	.	0.721551216883	0.71909	0.6563577712550202	0.65571	2.15008403777	0.95306	0.843462109566	0.88622	D	.	.	.	0.223	0.76021	D	0.0819729	0.75709	D	0.98498809337616	0.76116	D	.	.	.	.	.	.	.	.	.	.	.	-3.456	0.16153	T	.	.	0.998	0.97160	P	.;.;.	.;.;.	3.646224	0.51727	23.1	0.99633933635678729	0.76203	0.93226	0.57654	D	AEFBI	0.403545	0.47719	N	0.0683850253580956	0.44993	2.763348	0.0345004263229141	0.41329	2.481153	0.733851878871199	0.23096	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.13	2.28	0.27583	0.899000	0.28049	2.750000	0.34528	-0.171000	0.11205	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.7504:0.0:0.2496	8.751	0.33774	123	0.95099	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	1110.25	41	chr1	153760378	.	C	G	1110.25	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.62;DP=1190;ExcessHet=2.8389;FS=304.04;InbreedingCoeff=-0.3798;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=1.78;ReadPosRankSum=1.05;SOR=11.598	GT:AD:DP:GQ:PL	0/1:92,54:161:99:374,0,1045	4	0	5	1
chr1	155330500	155330500	G	T	exonic	RUSC1	.	nonsynonymous SNV	RUSC1:NM_001278228:exon8:c.G1213T:p.D405Y,RUSC1:NM_001278230:exon8:c.G1231T:p.D411Y,RUSC1:NM_001105205:exon9:c.G1408T:p.D470Y,RUSC1:NM_001278227:exon9:c.G1132T:p.D378Y,RUSC1:NM_001278229:exon9:c.G913T:p.D305Y,RUSC1:NM_014328:exon9:c.G1231T:p.D411Y,RUSC1:NM_001105203:exon10:c.G2638T:p.D880Y,RUSC1:NM_001105204:exon10:c.G2320T:p.D774Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.141618114186	0.0017	0.000798722	0.0005	0.0053	0.0007	0	0	0	0	0	0.0004528	70	154602	rs145480281	0.0001	0.0001	0.0002	0.0001	0.0053	0.0001	0.0001	0.0047	0.0044	0.0053	0.0003	0	0	0	0.0002	1.799e-06	0.0003	0	0.0015	0.0016	0.0017	0.0014	0.0055	0.0014	0.0013	0.0049	0.0047	0.0055	0	0.0005	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000158	0.49130	D	0.000000	0.999998	0.58761	D	3.105	0.87672	M	1.36	0.51714	T	-7.9	0.97055	D	0.776	0.87265	-0.3258	0.74257	T	0.282	0.65409	T	10	0.028790653	0.01008	T	0.141618	0.82403	D	0.641	0.86333	.	.	0.811739505708	0.80996	0.848531001063592	0.84814	0.70576254998	0.61413	0.75112080574	0.74612	T	0.412104	0.76636	T	-0.0283281	0.47658	T	0.189561	0.82544	D	0.154013846052468	0.17419	T	0.933007	0.76420	D	0.9352078	0.94761	0.818157	0.89421	0.9352078	0.94761	0.818157	0.89421	-14.44	0.94399	D	.	.	0.681	0.73054	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.266056	0.88424	29.6	0.99212071256926604	0.55624	0.97114	0.72771	D	AEFGBCI	0.948782	0.96076	D	0.535299026305334	0.69193	5.322288	0.426777212876055	0.63237	4.553771	0.999991464358423	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.55	3.62	0.40616	8.738000	0.91265	9.774000	0.81567	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8297:0.1703	12.277	0.54063	43	0.97828	.;SH3 domain|SH3 domain|SH3 domain;.;.;SH3 domain|SH3 domain|SH3 domain;SH3 domain|SH3 domain|SH3 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	.	.	.	.	.	.	.	.	0.05	1184.43	37	chr1	155330500	.	G	T	1184.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.408;DP=445;ExcessHet=0;FS=1.421;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.18;ReadPosRankSum=-0.738;SOR=0.527	GT:AD:DP:GQ:PL	0/1:75,54:129:99:1196,0,1895	9	0	1	0
chr1	156070169	156070169	C	T	exonic	RAB25	.	nonsynonymous SNV	RAB25:NM_020387:exon5:c.C524T:p.A175V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	.	0.0081	0.00579073	0.0023	0.0260	0.0009	0	0	5.998e-05	0.0022	0.0002	0.0021151	327	154602	rs115837676	0.0008	0.0008	0.0009	0.0007	0.0285	0.0008	0.0008	0.0270	0.0264	0.0285	0.0013	0	2.519e-05	0	0.0007	5.755e-05	0.0019	4.637e-05	0.0074	0.0075	0.0077	0.0071	0.0258	0.0071	0.0069	0.0246	0.0240	0.0258	0	0.0027	0	0	0	0	0.0001	0.0028	0	0.005	0.63226	D	0.175	0.29945	T	0.022	0.18677	B	0.004	0.10090	B	0.022433	0.26635	N	0.395029	1	0.08975	N	0.55	0.14455	N	-1.33	0.79854	T	-1.21	0.30762	N	0.158	0.16447	-0.8817	0.49625	T	0.150	0.47663	T	10	0.0042161047	0.00084	T	.	.	.	0.220	0.51569	.	.	0.858240277356	0.85687	0.23380549069321818	0.23295	0.243594810527	0.26860	0.350413203239	0.17982	T	0.149844	0.48904	T	-0.489369	0.00655	T	-0.454771	0.27170	T	0.0197421261421836	0.00676	T	0.963704	0.86510	D	0.38913482	0.59970	0.15663357	0.36663	0.38913482	0.59970	0.15663357	0.36662	-4.662	0.32941	T	.	.	0.112	0.21877	B	.	.	2.415790	0.31060	18.63	0.9875093679476652	0.45663	0.06776	0.12799	N	AEFDBI	0.095118	0.19222	N	-0.720540562378742	0.15446	0.7784293	-0.598130323963859	0.19541	1.048929	0.999999898429567	0.74766	0.634777	0.41761	0	0.547309	0.14657	0	0.643519	0.47002	0	0.505526	0.08623	0	.	.	5.85	4.94	0.64645	0.912000	0.28220	1.395000	0.26148	-0.180000	0.10397	0.000000	0.06391	0.001000	0.17328	0.970000	0.54328	0.1671:0.8329:0.0:0.0	12.485	0.55209	330	0.86467	.	.	.	.	.	.	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	0.001511	0.000000	0.002717	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	290.43	33	chr1	156070169	.	C	T	290.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.459;DP=279;ExcessHet=0;FS=1.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=-0.994;SOR=1.059	GT:AD:DP:GQ:PL	0/1:22,11:33:99:302,0,615	9	0	1	0
chr1	157544427	157544427	G	A	exonic	FCRL5	.	nonsynonymous SNV	FCRL5:NM_001195388:exon5:c.C679T:p.R227C,FCRL5:NM_031281:exon5:c.C679T:p.R227C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00282910298456	.	.	4.119e-05	0	8.637e-05	0.0001	0	0	0	0.0002	3.23e-05	5	154602	rs746634732	8.209e-06	8.209e-06	8.167e-06	8.25e-06	5.974e-05	4.38e-06	3.46e-06	9.89e-06	4.56e-06	5.974e-05	2.236e-05	0	2.519e-05	0	0	3.597e-06	1.656e-05	3.478e-05	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.453	0.21304	T	0.187	0.28764	T	0.005	0.15914	B	0.008	0.13708	B	0.242755	0.15676	N	0.475521	1	0.08975	N	-0.075	0.04822	N	2.65	0.12676	T	4.77	0.00028	N	0.067	0.21056	-0.9523	0.40573	T	0.003	0.00961	T	10	0.011374414	0.00249	T	0.002829	0.05927	T	0.012	0.01476	.	.	0.0666544352282	0.05500	0.2390212975382651	0.23816	0.0897401850087	0.10134	0.203575700521	0.00568	T	0.004385	0.03788	T	-0.522544	0.00425	T	-0.762673	0.03018	T	0.011982790180236	0.00188	T	0.293371	0.05593	T	0.022156626	0.00859	0.024708627	0.00495	0.022156626	0.00859	0.024708627	0.00495	-1.979	0.03103	T	.	.	0.077	0.22135	B	.;.;.	.;.;.	-0.181950	0.03184	0.523	0.80721495991041581	0.13337	0.00652	0.02836	N	AEFBI	0.059644	0.11279	N	-1.83407733690235	0.00467	0.02009447	-1.86595429104485	0.00570	0.02530869	0.324030500427617	0.19413	0.736574	0.97449	0	0.732669	0.95671	0	0.491513	0.07944	0	0.663205	0.64265	0	.	.	4.23	-6.08	0.01969	-0.807000	0.04627	-1.243000	0.05927	-1.371000	0.01170	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.4101:0.112:0.3659:0.1121	2.977	0.05578	840	0.37365	Immunoglobulin-like domain|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1405.43	37	chr1	157544427	.	G	A	1405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.21;DP=489;ExcessHet=0;FS=0.643;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.39;SOR=0.584	GT:AD:DP:GQ:PL	0/1:74,61:135:99:1417,0,1684	9	0	1	0
chr1	158076175	158076175	G	A	exonic	KIRREL1	.	nonsynonymous SNV	KIRREL1:NM_018240:exon2:c.G115A:p.V39M	.	421	1100	1	0	0	1	0.000454339	.	.	.	1292033	KIRREL1-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.597	.	0.0046	0.00139776	0.0046	0.0007	0.0020	0	0.0059	0.0067	0.0101	0.0023	0.0047218	730	154602	rs191487619	0.0057	0.0057	0.0058	0.0057	0.0067	0.0056	0.0056	0.0066	0.0066	0.0007	0.0028	0.0014	7.557e-05	0.0050	0.0009	0.0067	0.0044	0.0021	0.0053	0.0053	0.0055	0.0052	0.0084	0.0050	0.0049	0.0079	0.0076	0.0009	0.0515	0.0054	0.0012	0	0.0043	0	0.0084	0.0043	0.0027	0.054	0.38633	T	0.089	0.40426	T	0.993	0.65571	D	0.787	0.57594	P	0.006240	0.32178	N	0.000000	0.997744	0.81001	D	2.17	0.60663	M	-1.86	0.84341	D	-1.04	0.27259	N	0.415	0.45520	0.204	0.85983	D	0.574	0.84612	D	10	0.015240014	0.00320	T	.	.	.	0.597	0.84019	.	.	0.568754408454	0.56541	0.44904209097404263	0.44822	1.47171924055	0.86544	0.504406690598	0.39442	T	0.132691	0.46292	T	-0.291188	0.09518	T	-0.180017	0.56521	T	0.0207765111737248	0.00777	T	0.978202	0.92336	D	0.08305481	0.19163	0.11911126	0.28752	0.08305481	0.19163	0.11911126	0.28751	-8.812	0.66479	D	.	.	0.165	0.36455	B	.	.	3.795213	0.54648	23.5	0.99852534487736688	0.93191	0.62370	0.31761	D	AEFDGBI	0.140532	0.26246	N	0.360675556810863	0.59304	4.108862	0.280592473543201	0.54406	3.605799	0.990255732915063	0.32091	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.37	3.46	0.38718	0.401000	0.20673	5.117000	0.47558	0.676000	0.76740	0.025000	0.20085	1.000000	0.68203	0.995000	0.73285	0.0975:0.0:0.9025:0.0	10.683	0.45024	878	0.29785	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	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	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1574.43	40	chr1	158076175	.	G	A	1574.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.404;DP=459;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.09;SOR=0.628	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1586,0,1378	9	0	1	0
chr1	158776822	158776822	G	A	exonic	OR6N2	.	stopgain	OR6N2:NM_001005278:exon1:c.C814T:p.R272X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013	0.00199681	0.0005	0.0047	0.0003	0.0001	0	1.499e-05	0.0011	6.057e-05	0.0004334	67	154602	rs77219835	0.0002	0.0002	0.0002	0.0002	0.0054	0.0001	0.0001	0.0048	0.0045	0.0054	0.0003	0	2.519e-05	0	0.0002	1.349e-05	0.0003	8.116e-05	0.0014	0.0014	0.0015	0.0013	0.0050	0.0012	0.0012	0.0045	0.0043	0.0050	0	0.0001	0	0.0002	0	0	0	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.006423	0.32040	N	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.03	0.00717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224489	0.76201	D	0.551606	0.95683	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	6.240476	0.94860	34	0.99716865990042314	0.81773	0.32668	0.24642	N	AEFBI	0.095776	0.19345	N	0.647386305680163	0.76198	6.442715	0.423610101376671	0.63039	4.530031	0.0197975753587638	0.13196	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.74	4.74	0.59717	0.338000	0.19599	-0.245000	0.10556	-0.105000	0.15698	0.000000	0.06391	0.000000	0.08366	0.294000	0.24357	0.0:0.0:0.8039:0.1961	10.333	0.43017	853	0.34956	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2272.43	39	chr1	158776822	.	G	A	2272.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.376;DP=491;ExcessHet=0;FS=0.551;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.604;SOR=0.758	GT:AD:DP:GQ:PL	0/1:84,93:177:99:2284,0,1915	9	0	1	0
chr1	159432840	159432840	T	C	exonic	OR10J4	.	unknown	UNKNOWN	.	431	1076	15	0	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	0.0084	0.0032	0.0155	0	0.0015	0.0122	0	0	0.0023997	371	154602	rs146980188	0.0048	0.0026	0.0049	0.0047	0.0063	0.0046	0.0045	0.0060	0.0059	0.0015	0.0043	0.0035	0	0.0011	0.0055	0.0063	0.0048	0.0011	0.0039	0.0039	0.0040	0.0038	0.0061	0.0036	0.0035	0.0053	0.0051	0.0009	0.0219	0.0061	0.0063	0	0.0008	0.0068	0.0057	0.0033	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	.	.	.	.	.	.	.	.	0.1	5727.14	224	chr1	159432840	.	T	C	5727.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.4;DP=2449;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.15;ReadPosRankSum=0.326;SOR=0.712	GT:AD:DP:GQ:PL	0/1:178,124:302:99:2975,0,4516	8	0	2	0
chr1	159953411	159953411	T	A	exonic	SLAMF9	.	nonsynonymous SNV	SLAMF9:NM_001146172:exon2:c.A289T:p.I97F,SLAMF9:NM_033438:exon2:c.A289T:p.I97F	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613	.	0.0038	0.00279553	0.0009	0.0089	0.0006	0	0	2.997e-05	0.0022	0.0002	0.0008797	136	154602	rs146654789	0.0003	0.0003	0.0003	0.0003	0.0082	0.0003	0.0003	0.0074	0.0071	0.0082	0.0003	3.826e-05	0	1.872e-05	0.0040	4.047e-05	0.0009	0.0001	0.0025	0.0025	0.0027	0.0023	0.0085	0.0023	0.0022	0.0078	0.0075	0.0085	0	0.0007	0	0	0	0.0034	0.0001	0.0024	0.0002	0.002	0.72154	D	0.006	0.70582	D	0.999	0.90584	D	0.982	0.92359	D	0.000025	0.55875	D	0.112855	0.952436	0.37784	D	3.155	0.88459	M	-0.91	0.75001	T	-3.76	0.71276	D	0.734	0.75283	0.169	0.85384	D	0.524	0.82278	D	9	0.026150197	0.00788	T	.	.	.	0.613	0.84879	.	.	0.83683909362	0.83528	0.8385039390529269	0.83810	0.21056478515	0.23543	0.455484211445	0.32692	T	0.140293	0.47475	T	-0.231153	0.16498	T	-0.0994031	0.63443	T	0.0475699008164178	0.05067	T	0.772023	0.40277	T	0.57151437	0.71144	0.5996546	0.76744	0.57151437	0.71145	0.5996546	0.76745	-5.99	0.55532	T	.	.	0.145	0.31980	B	.;.	.;.	4.211604	0.63633	24.6	0.98863042312611671	0.47511	0.85636	0.44790	D	AEFBI	0.358999	0.44948	N	0.652012824641584	0.76500	6.497806	0.592511011881285	0.74401	6.130894	0.970063604210284	0.29178	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.28	5.28	0.74118	2.459000	0.44680	3.328000	0.37603	0.660000	0.55035	0.988000	0.36536	1.000000	0.68203	0.989000	0.64315	0.0:0.0:0.0:1.0	11.597	0.50233	856	0.34373	.;.	.	.	.	.	.	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	0.011089	0.010101	0.023098	0.008824	0.000000	0.008621	0.003049	0.000000	0.05	1277.43	34	chr1	159953411	.	T	A	1277.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.78;DP=559;ExcessHet=0;FS=3.12;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.11;SOR=0.968	GT:AD:DP:GQ:PL	0/1:87,55:142:99:1289,0,2003	9	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	2552.8	148	chr1	161048864	.	C	G	2552.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-5.803;DP=2098;ExcessHet=15.1594;FS=227.99;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.96;SOR=12.441	GT:AD:DP:GQ:PL	0/1:140,32:183:99:114,0,3018	0	0	9	1
chr1	174449165	174449165	C	T	exonic	GPR52	.	nonsynonymous SNV	GPR52:NM_005684:exon1:c.C1054T:p.P352S	.	431	1083	8	0	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.0111759228475	0.0003	0.000599042	0.0008	0	8.678e-05	0	0.0003	0.0005	0.0023	0.0044	0.0006792	105	154602	rs200680459	0.0005	0.0005	0.0004	0.0006	0.0037	0.0005	0.0004	0.0033	0.0032	6.053e-05	9.215e-05	0	0	0.0005	0.0007	0.0003	0.0004	0.0037	0.0004	0.0004	0.0003	0.0004	0.0050	0.0003	0.0003	0.0034	0.0029	0	0	0.0001	0	0	0.0004	0	0.0004	0	0.0050	0.951	0.02141	T	0.253	0.23501	T	0.002	0.09854	B	0.003	0.08700	B	0.000060	0.53742	D	0.000000	1	0.81001	D	-0.205	0.04094	N	0.21	0.59983	T	0.7	0.02163	N	0.529	0.55799	-0.9598	0.39218	T	0.118	0.41473	T	10	0.006215185	0.00140	T	0.011176	0.28538	T	0.225	0.52323	.	.	0.616342586736	0.61324	0.3486922598771574	0.34783	0.37739256135	0.39174	0.543717801571	0.44971	T	0.009747	0.08853	T	-0.326206	0.06402	T	-0.242505	0.50553	T	0.0818823738501277	0.10227	T	0.79972	0.44511	T	0.08512125	0.19732	0.14697002	0.34798	0.08512125	0.19732	0.14697002	0.34797	-3.51	0.16572	T	.	.	0.108	0.20547	B	.	.	2.781790	0.36545	20.3	0.96541839564533705	0.30190	0.98095	0.79555	D	AEFDGBIJ	0.910210	0.86784	D	-0.0702686479789215	0.38701	2.270757	0.199602129677502	0.49826	3.181233	0.999999999997965	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.0	0.00009	3	.	.	6.17	6.17	0.99707	7.542000	0.81035	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	20.879	0.99870	281	0.88893	.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	1800.14	40	chr1	174449165	.	C	T	1800.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.097;DP=511;ExcessHet=0.2348;FS=0.538;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.58;ReadPosRankSum=0.53;SOR=0.638	GT:AD:DP:GQ:PL	0/1:52,40:92:99:934,0,1247	8	0	2	0
chr1	175094013	175094013	G	C	exonic	TNN	.	nonsynonymous SNV	TNN:NM_022093:exon7:c.G1348C:p.V450L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166	0.0210534560377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.883	0.02526	T	0.624	0.27855	T	0.052	0.22494	B	0.075	0.28327	B	0.036577	0.24506	N	0.370692	0.938582	0.26859	N	2.585	0.75554	M	0.39	0.57419	T	-1.35	0.33598	N	0.168	0.24883	-0.8924	0.48722	T	0.185	0.53496	T	10	0.13209909	0.25142	T	0.021053	0.43757	T	0.166	0.42578	0.401	0.43081	0.723736904769	0.72129	0.1936755395002431	0.19285	0.116441121497	0.13138	0.312438666821	0.12276	T	0.003509	0.02920	T	-0.147435	0.28713	T	-0.449556	0.27747	T	0.184918433427811	0.19540	T	0.70223	0.54193	T	0.18623883	0.40023	0.1430183	0.34003	0.18623883	0.40023	0.1430183	0.34002	-5.496	0.41831	T	.	.	0.099	0.18622	B	.;.;.	.;.;.	1.294938	0.16964	12.87	0.15553015491337271	0.00385	0.95971	0.66952	D	AEFBI	0.396096	0.47270	N	-0.369272237228606	0.26569	1.451083	-0.290610374154451	0.28407	1.58368	0.153821413606095	0.17484	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.4	4.49	0.54177	1.946000	0.39909	4.969000	0.46388	-0.127000	0.13314	0.925000	0.32113	1.000000	0.68203	0.422000	0.27272	0.0796:0.0:0.9204:0.0	12.308	0.54234	660	0.61921	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1368.43	34	chr1	175094013	.	G	C	1368.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.196;DP=442;ExcessHet=0;FS=0.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.928;SOR=0.617	GT:AD:DP:GQ:PL	0/1:67,61:128:99:1380,0,1747	9	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	13668.7	91	chr1	175160810	.	C	*	13668.7	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.19;DP=749;ExcessHet=2.8389;FS=2.847;InbreedingCoeff=-0.3333;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=3.4;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,37:68:99:1|0:175160809_TC_T:2632,1218,1359:175160809	6	0	4	0
chr1	175160810	175160810	-	TTT	exonic	KIAA0040	.	nonframeshift insertion	KIAA0040:NM_001162895:exon3:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_001319230:exon3:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_001162894:exon4:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_014656:exon4:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_001162893:exon5:c.203_204insAAA:p.K75_D76insK,KIAA0040:NM_001319231:exon5:c.203_204insAAA:p.K75_D76insK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.809e-05	0.0006	0	0	0	0	0	0	0.0001921	5	26028	rs779709912	0.0002	0.0005	0.0002	0.0002	0.0018	0.0002	0.0002	0.0013	0.0012	0.0018	0.0007	4.936e-05	0.0002	0	0	0.0002	0.0002	9.894e-05	0.0004	0.0005	0.0003	0.0004	0.0009	0.0003	0.0002	0.0006	0.0005	0.0009	0	0.0003	0	0.0004	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	13668.7	91	chr1	175160810	.	C	CTTT	13668.7	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.19;DP=749;ExcessHet=2.8389;FS=2.847;InbreedingCoeff=-0.3333;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.96;ReadPosRankSum=3.4;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,31:68:99:1|0:175160809_TC_T:2632,1445,1395:175160809	9	0	1	0
chr1	182057705	182057705	A	C	exonic	ZNF648	.	nonsynonymous SNV	ZNF648:NM_001009992:exon2:c.T306G:p.S102R	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00245176380396	7.7e-05	0.000798722	9.06e-05	0.0007	0	0	0	0	0	0.0002	0.0001035	16	154602	rs140095619	4.515e-05	4.515e-05	2.178e-05	6.875e-05	0.0006	3.641e-05	3.321e-05	0.0005	0.0004	0.0003	0	0	0	0	0	8.993e-07	6.623e-05	0.0006	9.196e-05	9.187e-05	3.856e-05	0.0001	0.0006	5.526e-05	4.363e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	0	0	0.0006	0.172	0.22660	T	0.088	0.40586	T	0.379	0.34321	B	0.11	0.31460	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	3.06	0.08634	T	-0.64	0.18670	N	0.089	0.06720	-0.9747	0.36191	T	0.010	0.03537	T	9	0.010532588	0.00234	T	0.002452	0.04840	T	0.054	0.15330	0.314	0.28935	0.0138822411134	0.00435	0.03901072413800416	0.03847	0.429269928717	0.43224	0.323713898659	0.13983	T	0.002405	0.01797	T	-0.4848	0.00694	T	-0.584727	0.14126	T	0.00989760253530709	0.00131	T	0.286771	0.05140	T	0.05471278	0.10536	0.07304595	0.15829	0.05471278	0.10536	0.07304595	0.15829	-4.378	0.29257	T	.	.	0.324	0.54825	B	.	.	-0.221965	0.02981	0.446	0.87498131771124077	0.17270	0.01589	0.05168	N	AEFDBI	0.047041	0.07877	N	-1.2691614206154	0.04052	0.1821667	-1.39441679327485	0.03311	0.1541964	0.802655573315418	0.24213	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.564101	0.26826	0	.	.	2.61	-1.58	0.08029	-1.300000	0.02859	-1.205000	0.06030	-0.740000	0.03671	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5352:0.0:0.4648:0.0	6.361	0.20630	910	0.22284	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	5923.43	129	chr1	182057705	.	A	C	5923.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.09;DP=874;ExcessHet=0;FS=2.303;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=21.86;ReadPosRankSum=0.651;SOR=0.533	GT:AD:DP:GQ:PL	0/1:76,55:131:99:1368,0,2002	8	1	1	0
chr1	183261213	183261213	G	A	exonic	NMNAT2	.	nonsynonymous SNV	NMNAT2:NM_015039:exon9:c.C742T:p.R248C,NMNAT2:NM_170706:exon9:c.C727T:p.R243C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.707	0.15088338706	.	0.000199681	2.471e-05	0	0	0.0001	0	2.997e-05	0	0	2.59e-05	4	154602	rs200858529	5.473e-06	5.472e-06	6.807e-06	4.125e-06	2.236e-05	2.35e-06	1.7e-06	1.32e-06	9.6e-07	0	2.236e-05	0	0	0	0	4.497e-06	1.656e-05	1.159e-05	3.284e-05	3.281e-05	5.141e-05	1.343e-05	0.0002	1.261e-05	7.98e-06	7.98e-06	2.99e-06	4.817e-05	0	6.539e-05	0	0.0002	0	0	1.47e-05	0	0	0.075	0.34444	T	0.171	0.30339	T	1.0	0.90584	D	0.901	0.64797	P	0.000086	0.51296	D	0.177231	1	0.81001	D	1.32	0.33002	L	-4.1	0.96659	D	-0.17	0.09627	N	0.683	0.68950	0.896	0.95618	D	0.880	0.96015	D	10	0.7279803	0.74103	D	0.150883	0.83251	D	0.707	0.89514	.	.	0.862042798329	0.86071	0.8050823545042699	0.80462	2.14347587928	0.95256	0.832240641117	0.86906	D	0.361692	0.72773	T	0.360735	0.87307	D	0.449523	0.93567	D	0.732622623443604	0.42346	D	0.973803	0.90577	D	0.10245937	0.24212	0.10648871	0.25619	0.10245937	0.24211	0.10648871	0.25619	-4.685	0.45204	T	0.11201058359650204	0.09644	0.417	0.64848	A	.;.	.;.	5.483810	0.91410	32	0.99637606093125253	0.76449	0.97511	0.75225	D	AEFGBI	0.936663	0.93331	D	0.633339582531517	0.75294	6.28068	0.672573379981626	0.80304	7.26873	0.999999999986703	0.74766	0.706298	0.61202	0	0.627178	0.54094	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	5.4	5.4	0.77957	7.611000	0.82163	11.840000	0.97786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	19.173	0.93571	618	0.66225	.;Cytidyltransferase-like 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	.	.	.	.	.	.	.	.	0.15	6171.43	34	chr1	183261213	.	G	A	6171.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.845;DP=588;ExcessHet=0;FS=1.614;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=59.94;MQRankSum=1.04;QD=20.57;ReadPosRankSum=2.05;SOR=0.812	GT:AD:DP:GQ:PL	0/1:81,86:167:99:2012,0,1960	8	1	1	0
chr1	184712590	184712590	G	A	exonic	EDEM3	.	nonsynonymous SNV	EDEM3:NM_001319960:exon14:c.C1379T:p.S460F,EDEM3:NM_025191:exon14:c.C1379T:p.S460F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.920	0.168391100123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.97	0.99843	H	-1.86	0.84341	D	-5.7	0.87380	D	0.981	0.99260	0.959	0.96532	D	0.867	0.95563	D	10	0.9669199	0.96194	D	0.168391	0.84650	D	0.920	0.97965	0.874	0.96529	0.973843046719	0.97356	0.957737645433485	0.95758	0.695745689123	0.60824	0.817488431931	0.84643	D	0.784915	0.94356	D	0.478511	0.93648	D	0.449571	0.93568	D	0.999863743782043	0.99418	D	0.99736	0.98941	D	0.8988952	0.91285	0.89883214	0.94893	0.8988952	0.91286	0.89883214	0.94893	-13.136	0.90486	D	.	.	1.000	0.99585	P	.;.	.;.	5.583706	0.92323	32	0.9978542467290914	0.87131	0.99570	0.97553	D	AEFBI	0.886208	0.81740	D	1.15754019235889	0.99064	20.504	1.08134954742691	0.99673	25.08468	0.999999999992661	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.93	5.93	0.95888	9.784000	0.98199	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.354	0.98826	450	0.79359	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	33.46	36	chr1	184712590	.	G	A	33.46	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.611;DP=177;ExcessHet=0;FS=0;InbreedingCoeff=-0.0549;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=-1.793;SOR=0.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:184712582_AG_A:45,0,540:184712582	9	0	1	0
chr1	197105038	197105038	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C4213T:p.R1405C	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	5	1499	18	0	0	18	0.00596817	.	.	.	167665	not_specified|ASPM-related_disorder|Microcephaly_5,_primary,_autosomal_recessive|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.795	.	0.0039	0.00419329	0.0055	0.0008	0.0012	0	0.0014	0.0057	0.0044	0.0152	0.0053039	820	154602	rs139367209	0.0057	0.0057	0.0053	0.0061	0.0132	0.0056	0.0056	0.0125	0.0123	0.0006	0.0014	0.0089	0	0.0014	0.0051	0.0058	0.0048	0.0132	0.0043	0.0043	0.0046	0.0039	0.0162	0.0040	0.0039	0.0133	0.0122	0.0009	0	0.0024	0.0101	0.0004	0.0015	0	0.0065	0.0024	0.0162	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.485	0.92608	M	-1.07	0.76948	T	-5.9	0.88839	D	0.307	0.34659	0.288	0.87364	D	0.559	0.83942	D	10	0.013116419	0.00279	T	.	.	.	0.795	0.93266	.	.	0.976337284706	0.97608	0.3470169309084892	0.34615	.	.	0.369533777237	0.20765	T	0.446768	0.78928	T	0.0427966	0.57410	T	0.299729	0.88184	D	0.0931860433104182	0.11590	T	0.827217	0.49094	T	0.7055581	0.78362	0.48240623	0.70030	0.7055581	0.78363	0.48240623	0.70030	-10.08	0.74389	D	0.4454985388518281	0.53023	0.163	0.36033	B	.	.	4.734065	0.76271	26.5	0.99921080182158495	0.98787	0.98219	0.80648	D	AEFBI	0.749832	0.69114	D	0.744745732320336	0.82561	7.793392	0.675622111294304	0.80534	7.319754	0.855008275730344	0.25116	0.732398	0.92422	0	0.708844	0.79440	0	0.608884	0.39905	0	0.727631	0.95156	0	.	.	5.24	4.33	0.51083	6.479000	0.73509	5.893000	0.50786	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0776:0.0:0.9224:0.0	13.085	0.58547	176	0.93188	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.006042	0.000000	0.001359	0.011696	0.000000	0.008621	0.003049	0.015152	0.15	8518.43	37	chr1	197105038	.	G	A	8518.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.15;DP=716;ExcessHet=0;FS=0.472;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=22.48;ReadPosRankSum=0.894;SOR=0.649	GT:AD:DP:GQ:PL	0/1:74,100:174:99:2449,0,1540	8	1	1	0
chr1	198729163	198729163	T	C	exonic	PTPRC	.	nonsynonymous SNV	PTPRC:NM_080921:exon14:c.T1373C:p.V458A,PTPRC:NM_002838:exon17:c.T1856C:p.V619A	Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1922997	Immunodeficiency_104	MONDO:MONDO:0012163,MedGen:C5676890,OMIM:608971	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.0200631132582	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1257220764	9.596e-06	9.577e-06	5.456e-06	1.378e-05	0.0002	5.57e-06	4.36e-06	7.43e-06	3.32e-06	2.995e-05	4.483e-05	0	0	0	0.0002	9.005e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.157	0.74150	T	.	.	.	.	.	.	0.001164	0.39978	N	0.000000	0.991274	0.42392	D	.	.	.	4.12	0.14408	T	.	.	.	0.226	0.32481	-1.1595	0.00768	T	0.035	0.14857	T	10	0.2919737	0.46775	T	0.020063	0.42574	T	0.118	0.32913	.	.	0.578304755241	0.57500	0.5259134513068477	0.52515	0.718008405053	0.62071	0.570687532425	0.48775	T	0.114341	0.43208	T	-0.240652	0.15265	T	-0.40761	0.32502	T	0.688213595205635	0.40166	D	0.850115	0.53348	D	0.23307122	0.46105	0.32865638	0.58753	0.23307122	0.46105	0.32865638	0.58752	-9.835	0.72918	D	.	.	0.652	0.72815	P	.;.;.;.	.;.;.;.	4.438250	0.68891	25.3	0.99877994977300188	0.95491	0.95236	0.63943	D	AEFBI	0.545854	0.56020	D	0.47152497966282	0.65433	4.822051	0.422753437075963	0.62987	4.523623	0.0865217957119838	0.16011	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.26	4.14	0.47821	4.306000	0.58911	7.768000	0.68418	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0863:0.0:0.9137	8.948	0.34930	628	0.65206	.;.;.;.	.	.	.	.	.	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	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	238.43	35	chr1	198729163	.	T	C	238.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.496;DP=342;ExcessHet=0;FS=1.441;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.52;ReadPosRankSum=-0.488;SOR=1.022	GT:AD:DP:GQ:PL	0/1:16,12:28:99:250,0,344	9	0	1	0
chr1	201039947	201039947	G	A	exonic	CACNA1S	.	stopgain	CACNA1S:NM_000069:exon44:c.C5506T:p.R1836X	Hypokalemic periodic paralysis, type 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1923578	Hypokalemic_periodic_paralysis,_type_1|Thyrotoxic_periodic_paralysis,_susceptibility_to,_1|Congenital_myopathy_18|Malignant_hyperthermia,_susceptibility_to,_5	MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008570,MedGen:C2749982,OMIM:188580,Orphanet:79102|MONDO:MONDO:0859514,MedGen:C5830283,OMIM:620246|MONDO:MONDO:0011163,MedGen:C1866077,OMIM:601887,Orphanet:423	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs926000507	6.157e-06	6.84e-06	2.723e-06	9.626e-06	5.797e-05	2.9e-06	2.1e-06	2.194e-05	1.43e-05	0	0	0	0	0	0	3.597e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400231	0.04529	U	1.536250	0.999993	0.58761	D	.	.	.	.	.	.	.	.	.	0.505	0.53884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240329	0.77694	D	0.288967	0.87607	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	8.652115	0.97839	38	0.99497677802862083	0.67859	0.10349	0.15880	N	AEFBI	0.067550	0.13285	N	0.337032325300686	0.58059	3.976035	0.080738040017168	0.43581	2.656864	0.0951414649336419	0.16221	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.36	4.36	0.51643	0.514000	0.22492	4.992000	0.46535	0.581000	0.30040	0.001000	0.13787	0.987000	0.30940	0.968000	0.53726	0.0:0.1719:0.6511:0.177	8.026	0.29601	878	0.29785	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	5524.14	48	chr1	201039947	.	G	A	5524.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.31;DP=803;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.23;ReadPosRankSum=0.674;SOR=0.793	GT:AD:DP:GQ:PL	0/1:136,144:280:99:3181,0,2924	8	0	2	0
chr1	202440718	202440718	A	G	exonic	PPP1R12B	.	nonsynonymous SNV	PPP1R12B:NM_001331029:exon11:c.A1471G:p.K491E,PPP1R12B:NM_002481:exon11:c.A1471G:p.K491E	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00220291764973	.	0.00119808	0.0008	9.686e-05	8.637e-05	0	0	8.995e-05	0	0.0053	0.0006598	102	154602	rs201801874	0.0003	0.0003	0.0002	0.0005	0.0047	0.0003	0.0003	0.0043	0.0042	0.0001	0	0	0	0	0.0035	2.25e-05	0.0003	0.0047	0.0002	0.0002	8.992e-05	0.0003	0.0046	0.0001	0.0001	0.0031	0.0026	2.405e-05	0	0	0	0	0	0.0034	7.349e-05	0.0005	0.0046	.	.	.	0.272	0.25286	T	0.049	0.22227	B	0.016	0.17743	B	0.035259	0.24668	N	0.418170	0.813619	0.34675	D	2.39	0.68882	M	.	.	.	.	.	.	0.468	0.50418	-1.0638	0.10831	T	0.098	0.36754	T	10	0.007736236	0.00176	T	0.002203	0.04151	T	.	.	.	.	0.436455679973	0.43264	0.05683997228937361	0.05624	0.259433600952	0.28498	0.311503082514	0.12134	T	0.038211	0.24756	T	-0.396046	0.02457	T	-0.340027	0.40340	T	0.0505341742757709	0.05593	T	0.824917	0.48720	T	0.2520805	0.48221	0.25601518	0.51294	0.2520805	0.48221	0.25601518	0.51293	-6.714	0.51916	T	.	.	0.205	0.43144	B	.;.	.;.	3.412683	0.47344	22.4	0.99134735055086187	0.53356	0.90703	0.52102	D	AEFBI	0.161094	0.28712	N	-0.140061051381712	0.35660	2.051028	0.030426940645274	0.41135	2.466307	0.00647402422950397	0.11227	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.96	4.81	0.61401	3.772000	0.55034	6.916000	0.56914	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8649:0.1351:0.0:0.0	12.981	0.57963	506	0.75555	.;.	.	.	.	.	.	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	0.004532	0.000000	0.000000	0.011696	0.000000	0.000000	0.003049	0.015152	0.05	1018.43	34	chr1	202440718	.	A	G	1018.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.759;DP=407;ExcessHet=0;FS=2.915;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.907;SOR=1.107	GT:AD:DP:GQ:PL	0/1:40,47:87:99:1030,0,920	9	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) 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	.	.	.	.	.	.	.	.	0.35	1775.95	150	chr1	204444146	.	C	T	1775.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.45;DP=1261;ExcessHet=7.0302;FS=231.663;InbreedingCoeff=-0.5226;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.73;ReadPosRankSum=1.11;SOR=9.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:148,48:196:99:.:.:303,0,3073:.	3	0	7	0
chr1	208216911	208216911	T	C	exonic	PLXNA2	.	nonsynonymous SNV	PLXNA2:NM_025179:exon2:c.A1012G:p.I338V	.	431	1090	1	0	0	1	0.000458505	.	.	.	3510870	PLXNA2-related_disorder	.	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0.083	0.00331463948968	.	.	4.948e-05	0.0002	0	0	0	6.003e-05	0	0	4.53e-05	7	154602	rs150144401	5.951e-05	5.951e-05	6.398e-05	5.5e-05	0.0003	4.882e-05	4.561e-05	6.092e-05	5.11e-05	5.974e-05	4.472e-05	0	0	0	0.0003	6.834e-05	4.967e-05	2.319e-05	5.258e-05	5.254e-05	5.14e-05	5.381e-05	6.543e-05	2.558e-05	1.83e-05	1.972e-05	1.124e-05	4.828e-05	0	6.543e-05	0	0	0	0	5.88e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.004	0.10090	B	0.000435	0.44522	N	0.172506	0.993058	0.41822	D	-0.725	0.01781	N	4.28	0.02487	T	0.34	0.03824	N	0.083	0.05929	-0.9516	0.40695	T	0.003	0.01059	T	10	0.10079932	0.18379	T	0.003315	0.07359	T	0.083	0.24192	.	.	0.171220215726	0.16700	0.44210080105281213	0.44127	0.469490655894	0.46258	0.506237983704	0.39696	T	0.052257	0.29110	T	-0.392855	0.02578	T	-0.620557	0.11142	T	0.0395369671633047	0.03606	T	0.814119	0.46793	T	0.04734651	0.08078	0.055646274	0.09800	0.04734651	0.08078	0.055646274	0.09800	0.777	0.00163	T	0.03441546307926692	0.00167	0.064	0.01762	B	.	.	1.160197	0.15492	11.89	0.79337267346435725	0.12696	0.67693	0.33525	D	AEFDBHCI	0.159797	0.28565	N	-0.658941422504858	0.17200	0.8830583	-0.37534523371916	0.25733	1.417039	0.999999981298909	0.74766	0.722319	0.85440	0	0.615948	0.52940	0	0.725225	0.93170	0	0.735409	0.98432	0	.	.	5.69	4.57	0.55860	1.026000	0.29708	1.503000	0.26970	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.1474:0.0:0.8526	8.492	0.32266	790	0.46189	Sema domain|Sema domain|Sema domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2440.14	48	chr1	208216911	.	T	C	2440.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.08;DP=679;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=1.27;SOR=0.724	GT:AD:DP:GQ:PL	0/1:75,55:130:99:1259,0,1864	8	0	2	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	169.58	83	chr1	212100360	.	A	G	169.58	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.766;DP=989;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.2414;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=1.6;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,9:70:22:0|1:212100360_A_G:22,0,2399:212100360	6	0	4	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	174.52	80	chr1	212100361	.	C	G	174.52	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.522;DP=993;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.3237;MLEAC=4;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=1.6;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,9:70:22:0|1:212100360_A_G:22,0,2399:212100360	4	0	4	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	169.62	83	chr1	212100362	.	C	G	169.62	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.832;DP=867;ExcessHet=1.5895;FS=79.61;InbreedingCoeff=-0.2424;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=1.66;SOR=8.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,9:70:22:0|1:212100360_A_G:22,0,2399:212100360	6	0	4	0
chr1	212386906	212386906	G	A	exonic	PACC1	.	nonsynonymous SNV	PACC1:NM_001377479:exon3:c.C97T:p.R33C,PACC1:NM_001377480:exon3:c.C328T:p.R110C,PACC1:NM_018252:exon3:c.C328T:p.R110C,PACC1:NM_001198862:exon4:c.C511T:p.R171C	.	0	225	1	0	0	1	0.00221729	.	.	.	3371462	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.061	0.00597624126183	0.0015	0.000199681	0.0007	0.0003	0.0003	0	0	0.0011	0	0	0.0008279	128	154602	rs148063790	0.0017	0.0017	0.0018	0.0017	0.0022	0.0017	0.0017	0.0021	0.0021	0.0003	0.0003	0.0003	0	0.0002	0	0.0022	0.0013	1.16e-05	0.0009	0.0009	0.0010	0.0008	0.0018	0.0008	0.0007	0.0015	0.0014	0.0002	0	0.0001	0	0.0002	0.0003	0	0.0018	0.0009	0	0.038	0.49117	D	0.075	0.42794	T	0.77	0.43887	P	0.172	0.35394	B	0.165125	0.17541	N	0.604283	0.964437	0.38407	D	1.1	0.28011	L	.	.	.	-2.92	0.61129	D	0.371	0.41261	-0.9769	0.35705	T	0.113	0.40238	T	9	0.025043458	0.00711	T	0.005976	0.15579	T	0.061	0.17616	.	.	0.0986583533028	0.09354	0.44215979616445295	0.44132	0.78222353086	0.65352	0.588747084141	0.51317	T	0.183871	0.53635	T	-0.349519	0.04757	T	-0.277257	0.47083	T	0.0760992206022392	0.09481	T	0.964603	0.86885	D	0.08806088	0.20530	0.10308679	0.24726	0.08806088	0.20530	0.10308679	0.24726	-4.283	0.30296	T	.	.	0.135	0.37820	B	.;.	.;.	3.969305	0.58269	24.0	0.9966859229579097	0.78458	0.77233	0.37951	D	AEFDBI	0.148125	0.27194	N	0.246434616006751	0.53463	3.515002	0.317110585257323	0.56546	3.817948	0.0683779970615934	0.15456	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.97	4.0	0.45673	1.873000	0.39195	8.566000	0.77586	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	1.000000	0.97212	0.0933:0.0:0.5481:0.3586	6.693	0.22372	811	0.42639	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	782.43	33	chr1	212386906	.	G	A	782.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.527;DP=409;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.21;ReadPosRankSum=1.12;SOR=0.682	GT:AD:DP:GQ:PL	0/1:49,36:85:99:794,0,1177	9	0	1	0
chr1	214641961	214641961	C	T	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon12:c.C3623T:p.A1208V	Stromme syndrome, Autosomal recessive	439	1053	29	1	0	31	0.0145063	.	.	.	427695	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.178	.	0.0052	0.00499201	0.0114	0.0013	0.0034	0	0.0590	0.0122	0.0302	0.0049	0.0101357	1567	154602	rs114717799	0.0089	0.0089	0.0089	0.0088	0.0264	0.0087	0.0087	0.0230	0.0217	0.0015	0.0053	0.0040	5.047e-05	0.0547	0.0264	0.0077	0.0084	0.0051	0.0098	0.0098	0.0081	0.0116	0.0094	0.0094	0.0092	0.0088	0.0086	0.0014	0	0.0076	0.0049	0	0.0579	0.0102	0.0094	0.0085	0.0046	1.0	0.00964	T	1.0	0.01155	T	0.703	0.41913	P	0.072	0.28043	B	0.890391	0.08691	N	0.931128	1	0.08975	N	.	.	.	3.96	0.03354	T	-1.24	0.31375	N	0.028	0.00618	-1.0210	0.23389	T	0.002	0.00707	T	9	0.0026867688	0.00042	T	.	.	.	0.178	0.44724	.	.	.	.	0.05135879761021875	0.05077	0.0533753117732	0.05882	0.255381524563	0.04355	T	0.018359	0.14816	T	-0.733312	0.00023	T	-0.813804	0.01581	T	0.00720192549576328	0.00082	T	0.572743	0.20478	T	0.0153380595	0.00134	0.039670035	0.04115	0.0153380595	0.00134	0.039670035	0.04114	-4.478	0.30600	T	.	.	0.116	0.23290	B	.	.	1.207309	0.16000	12.25	0.16453813836953438	0.00442	0.29893	0.23941	N	AEFBCIJ	0.036139	0.04766	N	-0.99948591475944	0.08614	0.4046039	-1.02120673192991	0.09320	0.4629789	0.8625609320024	0.25254	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.31	2.41	0.28644	1.614000	0.36522	0.120000	0.14904	-1.900000	0.00525	0.391000	0.26096	0.000000	0.08366	0.086000	0.17578	0.0:0.6584:0.0:0.3416	7.694	0.27747	899	0.25060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.018127	0.000000	0.025815	0.020468	0.000000	0.025862	0.012195	0.018939	0.05	1135.43	34	chr1	214641961	.	C	T	1135.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.565;DP=443;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.5;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1147,0,1240	9	0	1	0
chr1	230779052	230779052	G	A	exonic	CAPN9	.	nonsynonymous SNV	CAPN9:NM_001319676:exon7:c.G844A:p.A282T,CAPN9:NM_016452:exon8:c.G955A:p.A319T,CAPN9:NM_006615:exon9:c.G1033A:p.A345T	.	442	1079	1	0	0	1	0.000463177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.003028079344	0.0003	0.00139776	0.0008	0.0004	8.661e-05	0	0	2.999e-05	0	0.0058	0.0007244	112	154602	rs145648359	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0003	0.0048	0.0047	8.964e-05	8.944e-05	0	5.038e-05	0	0.0005	9.893e-06	0.0005	0.0052	0.0002	0.0002	0.0002	0.0003	0.0050	0.0002	0.0002	0.0034	0.0029	0.0003	0	0	0	0	0	0	0	0	0.0050	0.819	0.04134	T	0.557	0.09329	T	0.001	0.12183	B	0.001	0.08700	B	0.019297	0.27290	N	0.446021	0.999154	0.23364	N	-0.805	0.01590	N	2.38	0.15843	T	0.22	0.04694	N	0.065	0.11912	-0.9565	0.39825	T	0.017	0.06950	T	10	0.0029343069	0.00047	T	0.003028	0.06517	T	0.015	0.02232	.	.	0.107399877778	0.10242	0.2258574004423752	0.22500	0.0795836150917	0.08952	0.32239061594	0.13782	T	0.016286	0.13489	T	-0.620738	0.00109	T	-0.663195	0.08052	T	0.00375653606391011	0.00040	T	0.186981	0.06128	T	0.024228241	0.01234	0.04369956	0.05494	0.024228241	0.01234	0.04369956	0.05494	-3.09	0.11182	T	.	.	0.065	0.01909	B	.;.;.	.;.;.	-0.374293	0.02310	0.245	0.78043293907098654	0.12131	0.04494	0.10113	N	AEFDBI	0.078351	0.15806	N	-1.39544858709246	0.02681	0.1187079	-1.39452214026194	0.03310	0.1541423	0.876791583296278	0.25532	0.487112	0.14033	0	0.547309	0.14657	0	0.48864	0.07692	0	0.564101	0.26826	0	.	.	5.24	-2.63	0.05775	0.289000	0.18713	-0.852000	0.07174	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.5965:0.0:0.4035:0.0	11.923	0.52085	889	0.27310	Peptidase C2, calpain, catalytic domain;Peptidase C2, calpain, catalytic 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	0.001521	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1993.43	43	chr1	230779052	.	G	A	1993.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.055;DP=519;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.23;ReadPosRankSum=2.72;SOR=0.663	GT:AD:DP:GQ:PL	0/1:81,82:163:99:2005,0,1904	9	0	1	0
chr1	232986426	232986426	G	A	exonic	PCNX2	.	nonsynonymous SNV	PCNX2:NM_014801:exon33:c.C5906T:p.T1969M	.	427	1061	34	0	0	34	0.0157699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.014307487645	0.0052	0.00319489	0.0068	0.0005	0.0049	0	0.0031	0.0097	0.0094	0.0039	0.0046895	725	154602	rs151123406	0.0058	0.0058	0.0058	0.0058	0.0265	0.0057	0.0056	0.0231	0.0218	0.0026	0.0039	0.0078	2.535e-05	0.0022	0.0265	0.0063	0.0081	0.0027	0.0048	0.0048	0.0053	0.0043	0.0075	0.0045	0.0044	0.0070	0.0067	0.0016	0	0.0037	0.0112	0	0.0018	0.0374	0.0075	0.0080	0.0019	0.286	0.15201	T	0.299	0.27591	T	0.975	0.59675	D	0.34	0.43183	B	0.021196	0.26883	N	0.387309	0.999996	0.08975	N	1.7	0.43825	L	3.02	0.24085	T	-1.88	0.43906	N	0.446	0.48411	-0.9446	0.41879	T	0.048	0.20632	T	10	0.0062434077	0.00141	T	0.014307	0.34341	T	0.051	0.14325	.	.	0.44349138644	0.43972	0.42160185884728235	0.42076	0.179854413381	0.20231	0.399910956621	0.25056	T	0.004435	0.03837	T	-0.505575	0.00532	T	-0.494435	0.22927	T	0.0129233807055611	0.00223	T	0.853215	0.53849	D	0.06774857	0.14698	0.078936145	0.17725	0.06774857	0.14698	0.078936145	0.17725	-5.275	0.40249	T	.	.	0.095	0.28550	B	.;.	.;.	3.304303	0.45370	22.1	0.93333390136127492	0.23060	0.16899	0.19599	N	AEFDBCI	0.083401	0.16896	N	-0.0540393799874569	0.39421	2.324528	-0.112608399836134	0.34881	2.011497	0.999696701098321	0.41870	0.634777	0.41761	0	0.670034	0.63936	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.85	4.94	0.64645	2.312000	0.43386	3.485000	0.38675	0.676000	0.76740	0.212000	0.24446	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.7273:0.2727	14.133	0.64798	932	0.16191	.;.	.	.	.	.	.	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	0.026210	0.025253	0.039402	0.026471	0.050000	0.017544	0.012195	0.015152	0.05	1225.43	43	chr1	232986426	.	G	A	1225.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.71;DP=486;ExcessHet=0;FS=4.215;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=0.242;SOR=1.095	GT:AD:DP:GQ:PL	0/1:81,55:136:99:1237,0,1853	9	0	1	0
chr1	237590842	237590842	A	G	exonic	RYR2	.	nonsynonymous SNV	RYR2:NM_001035:exon31:c.A4010G:p.Y1337C	Arrhythmogenic right ventricular dysplasia 2, Autosomal dominant;Ventricular tachycardia, catecholaminergic polymorphic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	196586	Cardiovascular_phenotype|not_provided|Catecholaminergic_polymorphic_ventricular_tachycardia_1|Hypertrophic_cardiomyopathy|Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia	MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:0011484,MedGen:C1631597,OMIM:604772,Orphanet:3286|Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0017990,MedGen:C5574922,OMIM:PS604772,Orphanet:3286	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.472	0.215631292495	.	.	1.657e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs765369749	1.984e-05	1.984e-05	2.995e-05	9.627e-06	0.0002	1.392e-05	1.204e-05	1.663e-05	1.425e-05	2.987e-05	0	0	0	0	0.0002	2.428e-05	0	0	6.578e-06	6.568e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.177	0.22224	T	.	.	.	0.804	0.45171	P	0.258	0.39350	B	0.054039	0.22758	N	0.356379	0.99756	0.22606	N	0	0.06538	N	-4.03	0.96434	D	-1.95	0.45222	N	0.653	0.66358	-0.0106	0.82037	T	0.662	0.88250	D	10	0.23324093	0.40337	T	0.215631	0.87518	D	0.472	0.76554	0.428	0.47515	0.493523153317	0.48987	0.34381217708129147	0.34295	0.635918824725	0.57386	0.646557450294	0.59497	T	0.41793	0.77042	T	0.0134334	0.53493	T	-0.0880293	0.64310	T	0.204121142625809	0.20641	T	0.944206	0.78893	D	0.09423361	0.22150	0.09352227	0.22095	0.09423361	0.22149	0.09352227	0.22094	-4.669	0.33027	T	0.10776565464063148	0.08810	0.111	0.21466	B	.;.	.;.	2.518381	0.32539	19.07	0.99618699852914072	0.75293	0.95406	0.64595	D	AEFI	0.531026	0.55148	D	-0.106458466310796	0.37110	2.154448	-0.000391912767227713	0.39700	2.358	3.51091686433753E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.76	3.33	0.37245	2.208000	0.42436	.	.	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.4882:0.0:0.0:0.5118	10.685	0.45035	934	0.15400	B30.2/SPRY domain;B30.2/SPRY 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	.	.	.	.	.	.	.	.	0.05	2061.43	34	chr1	237590842	.	A	G	2061.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.118;DP=489;ExcessHet=0;FS=2.73;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=1.13;SOR=0.486	GT:AD:DP:GQ:PL	0/1:79,88:167:99:2073,0,1831	9	0	1	0
chr1	240207634	240207634	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	1	144	3	1	77	82	0.0170648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2613.07	86	chr1	240207634	.	G	*	2613.07	.	AC=5;AF=0.25;AN=20;DP=619;ExcessHet=0.0952;FS=0.455;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=60;QD=7.32;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,29:53:99:.:.:1149,0,854:.	6	1	3	0
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2667.45	80	chr1	240207641	.	T	*	2667.45	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.8;DP=628;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=5;MLEAF=0.25;MQ=59.99;MQRankSum=-0.926;QD=7.64;ReadPosRankSum=1.37;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,29:53:99:.:.:1149,0,854:.	6	1	3	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	257.43	46	chr1	243330649	.	T	C	257.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-4.762;DP=835;ExcessHet=0.7463;FS=120.026;InbreedingCoeff=-0.1754;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.49;SOR=9.17	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,28:174:99:0|1:243330649_T_C:128,0,4655:243330649	7	0	3	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	575.57	46	chr1	243330650	.	G	A	575.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.207;DP=1009;ExcessHet=1.5895;FS=128.873;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.78;ReadPosRankSum=3.64;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,28:174:99:0|1:243330649_T_C:128,0,4655:243330649	6	0	4	0
chr1	245687211	245687211	C	G	exonic	KIF26B	.	nonsynonymous SNV	KIF26B:NM_018012:exon12:c.C4228G:p.P1410A	.	432	1082	8	0	0	8	0.00368324	.	.	.	707266	not_provided|KIF26B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.109	0.0209027063003	0.0041	0.00179712	0.0043	0.0018	0.0009	0	0.0015	0.0058	0.0026	0.0055	0.0040362	624	154602	rs113972282	0.0072	0.0072	0.0071	0.0073	0.0084	0.0071	0.0070	0.0083	0.0082	0.0025	0.0020	0.0010	0	0.0016	0.0017	0.0084	0.0067	0.0054	0.0048	0.0048	0.0051	0.0045	0.0076	0.0045	0.0044	0.0071	0.0069	0.0026	0	0.0025	0.0017	0	0.0012	0.0034	0.0076	0.0033	0.0064	0.482	0.11994	T	0.433	0.13595	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	-0.96	0.75553	T	0.05	0.06369	N	0.052	0.02366	-0.9917	0.32167	T	0.060	0.25237	T	9	0.00395146	0.00076	T	0.020903	0.43581	T	0.109	0.30843	.	.	0.245697971988	0.24196	0.13046683558951994	0.12971	0.293368524652	0.31762	0.274080336094	0.06679	T	0.064153	0.32362	T	-0.597584	0.00151	T	-0.627439	0.10609	T	0.00190734541257838	0.00019	T	0.30037	0.05618	T	0.013252183	0.00054	0.02680588	0.00790	0.015813373	0.00159	0.03025784	0.01459	-3.058	0.10820	T	.	.	0.048	0.00090	B	.;.	.;.	-2.015605	0.00097	0.002	0.33787612368674064	0.02032	0.06927	0.12953	N	AEFDBCI	0.038892	0.05569	N	-2.39434004565614	0.00028	0.001203017	-2.39984126662237	0.00039	0.001726364	0.999980505081824	0.51787	0.615465	0.37627	0	0.633656	0.55848	0	0.596491	0.31596	0	0.562822	0.20929	0	.	.	5.51	-11.0	0.00133	-0.271000	0.08603	-2.322000	0.03901	-1.938000	0.00493	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1308:0.1173:0.5843:0.1677	8.305	0.31199	967	0.07127	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	1194.43	76	chr1	245687211	.	C	G	1194.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.918;DP=564;ExcessHet=0;FS=1.842;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.57;ReadPosRankSum=0.968;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,34:82:99:0|1:245687204_G_C:1206,0,1838:245687204	9	0	1	0
chr1	246891805	246891805	G	A	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon15:c.C1919T:p.S640L,AHCTF1:NM_001323343:exon15:c.C1919T:p.S640L,AHCTF1:NM_015446:exon15:c.C1946T:p.S649L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00752259351923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.84e-07	0	1.377e-06	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.026	0.55759	D	0.006	0.16867	B	0.005	0.12133	B	0.212295	0.16336	N	0.627971	1	0.08975	N	0.55	0.14455	N	1.49	0.31470	T	-1.16	0.29727	N	0.218	0.24758	-1.0355	0.18700	T	0.041	0.17573	T	10	0.06172079	0.07783	T	0.007523	0.19952	T	0.016	0.02506	0.394	0.41935	0.0675242888579	0.06100	0.14857443766049624	0.14779	0.223967814049	0.24908	0.270486295223	0.06205	T	0.090059	0.38505	T	-0.195337	0.21479	T	-0.518364	0.20460	T	0.104914225637913	0.12888	T	0.889011	0.61998	D	0.05401627	0.10307	0.09858602	0.23509	0.05401627	0.10306	0.09858602	0.23508	-4.17	0.26534	T	.	.	0.094	0.14660	B	.;.;.	.;.;.	2.161709	0.27541	17.50	0.9292137006305321	0.22483	0.09255	0.15048	N	AEFDBI	0.043167	0.06790	N	-1.09104393752158	0.06807	0.3144274	-1.07838411941292	0.08127	0.3982184	0.0026255048341082	0.09584	0.372202	0.05800	0	0.546412	0.12157	0	0.463624	0.06942	0	0.491896	0.07777	0	.	.	5.1	2.08	0.26079	0.874000	0.27715	2.370000	0.32424	-0.185000	0.09859	0.002000	0.15269	0.031000	0.21272	0.211000	0.22211	0.3144:0.1428:0.5428:0.0	5.040	0.13794	749	0.51929	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	481.43	34	chr1	246891805	.	G	A	481.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.411;DP=307;ExcessHet=0;FS=3.155;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.94;MQRankSum=1.87;QD=14.16;ReadPosRankSum=0.639;SOR=1.159	GT:AD:DP:GQ:PL	0/1:13,21:34:99:493,0,307	9	0	1	0
chr1	247039497	247039497	T	G	exonic	ZNF670	.	nonsynonymous SNV	ZNF670:NM_001204220:exon2:c.A44C:p.Q15P,ZNF670:NM_033213:exon2:c.A44C:p.Q15P	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00194981131773	.	.	5.789e-05	0	0	0	0	0	0	0.0004	6.5e-06	1	154602	rs760277600	2.34e-05	2.326e-05	9.589e-06	3.736e-05	0.0003	1.685e-05	1.487e-05	0.0002	0.0002	0	0	0	0	0	0.0002	3.609e-06	0	0.0003	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.251	0.17069	T	0.425	0.13912	T	0.104	0.25941	B	0.143	0.33763	B	.	.	.	.	0.999632	0.20820	N	0.715	0.18665	N	4.38	0.02255	T	-0.97	0.25770	N	0.224	0.25130	-0.9213	0.45376	T	0.008	0.02638	T	8	0.053522468	0.05557	T	0.00195	0.03482	T	0.057	0.16321	0.516	0.61611	0.165133752707	0.16062	0.3452691249854406	0.34440	0.239475993603	0.26500	0.350712954998	0.18027	T	0.029717	0.21228	T	-0.395723	0.02470	T	-0.493826	0.22990	T	0.0581647502976819	0.06876	T	0.0249975	0.00151	T	0.35770413	0.57661	0.50082445	0.71142	0.35770413	0.57661	0.50082445	0.71142	-6.129	0.47346	T	.	.	0.072	0.04277	B	.	.	1.224810	0.16187	12.38	0.95720239885608216	0.27643	0.00613	0.02718	N	AEFBI	0.066410	0.13004	N	-0.916389256105277	0.10459	0.4998826	-1.021613877729	0.09310	0.4624785	3.38602789150726E-4	0.06583	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	0.46	-0.92	0.09942	-0.057000	0.11726	.	.	0.474000	0.21982	0.124000	0.23245	0.000000	0.08366	0.022000	0.11911	.	.	.	567	0.70732	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1550.43	41	chr1	247039497	.	T	G	1550.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.168;DP=439;ExcessHet=0;FS=8.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.334;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,43:124:99:0|1:247039497_T_G:1562,0,3272:247039497	9	0	1	0
chr1	247039499	247039504	AGTAAA	-	exonic	ZNF670	.	nonframeshift deletion	ZNF670:NM_001204220:exon2:c.37_42del:p.F13_T14del,ZNF670:NM_033213:exon2:c.37_42del:p.F13_T14del	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.79e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs758273716	2.341e-05	2.326e-05	9.593e-06	3.737e-05	0.0003	1.685e-05	1.487e-05	0.0002	0.0002	0	0	0	0	0	0.0002	3.61e-06	0	0.0003	6.57e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1550.39	41	chr1	247039498	.	GAGTAAA	G	1550.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.294;DP=439;ExcessHet=0;FS=8.815;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.5;ReadPosRankSum=-1.223;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,43:124:99:0|1:247039497_T_G:1562,0,3272:247039497	9	0	1	0
chr1	247444671	247444671	C	T	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_183395:exon7:c.C2513T:p.T838M,NLRP3:NM_001127461:exon8:c.C2684T:p.T895M,NLRP3:NM_001127462:exon8:c.C2684T:p.T895M,NLRP3:NM_001243133:exon9:c.C2855T:p.T952M,NLRP3:NM_004895:exon9:c.C2861T:p.T954M,NLRP3:NM_001079821:exon10:c.C2855T:p.T952M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	0	1502	18	2	0	22	0.00727032	.	.	.	231492	Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|Cryopyrin_associated_periodic_syndrome|not_provided|not_specified|NLRP3-related_disorder|Autoinflammatory_syndrome	MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.223	0.0559250876732	0.0007	0.00179712	0.0012	0	0.0027	0	0	0.0010	0.0011	0.0030	0.0011837	183	154602	rs139814109	0.0009	0.0009	0.0009	0.0010	0.0038	0.0009	0.0009	0.0035	0.0034	0.0001	0.0019	0.0033	7.557e-05	0.0001	0.0019	0.0007	0.0011	0.0038	0.0007	0.0007	0.0006	0.0008	0.0060	0.0006	0.0006	0.0043	0.0037	9.628e-05	0	0.0003	0.0040	0	0	0	0.0008	0.0014	0.0060	0.003	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.988	0.82059	D	0.004001	0.34245	N	0.135690	0.51581	0.34127	D	.	.	.	0.37	0.57729	T	-4.99	0.84387	D	0.499	0.56919	0.140	0.84880	D	0.415	0.76225	T	10	0.014665842	0.00308	T	0.055925	0.66415	D	0.223	0.52023	.	.	0.953123744604	0.95262	0.8017135601145453	0.80125	1.32499314031	0.83536	0.343625575304	0.16979	T	0.751276	0.93186	D	-0.21955	0.18055	T	-0.0889828	0.64239	T	0.0816429654366961	0.10196	T	0.879912	0.60954	D	0.33443165	0.55831	0.3183049	0.57799	0.3201693	0.54654	0.24169135	0.49571	-8.089	0.64720	D	.	.	0.327	0.57167	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.320669	0.66120	24.9	0.99909413192448038	0.97949	0.95640	0.65534	D	AEFBI	0.591703	0.58770	D	0.782536833620229	0.85002	8.448175	0.686207239297608	0.81330	7.501698	0.999999810104876	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.71	4.71	0.59010	5.410000	0.66123	.	.	0.589000	0.31548	0.999000	0.42656	0.999000	0.35428	0.648000	0.32638	0.0:1.0:0.0:0.0	13.896	0.63276	867	0.32089	.;.;.;.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2185.43	33	chr1	247444671	.	C	T	2185.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.772;DP=555;ExcessHet=0;FS=1.058;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.036;SOR=0.784	GT:AD:DP:GQ:PL	0/1:113,99:212:99:2197,0,2482	9	0	1	0
chr1	247966002	247966002	T	C	exonic	OR2AK2	.	nonsynonymous SNV	OR2AK2:NM_001004491:exon1:c.T671C:p.L224P	.	430	1067	24	1	0	26	0.012037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00629404517263	0.0010	0.00159744	0.0023	0.0006	0.0017	0	0.0003	0.0027	0.0046	0.0042	0.0021733	336	154602	rs143777155	0.0027	0.0027	0.0027	0.0028	0.0123	0.0027	0.0026	0.0100	0.0092	0.0004	0.0012	0.0053	0.0001	0.0002	0.0123	0.0028	0.0038	0.0046	0.0017	0.0017	0.0018	0.0016	0.0043	0.0015	0.0015	0.0029	0.0024	0.0007	0	0.0011	0.0055	0	0.0005	0.0170	0.0023	0.0043	0.0043	.	.	.	.	.	.	1.0	0.90584	D	0.992	0.80445	D	.	.	.	.	1	0.08975	N	1.29	0.32370	L	.	.	.	.	.	.	.	.	-0.9933	0.31749	T	0.171	0.51245	T	9	0.018920064	0.00416	T	0.006294	0.16522	T	0.066	0.19193	.	.	0.548865971634	0.54542	0.5532750783688914	0.55253	0.279006609855	0.30376	0.22066795826	0.01349	T	0.015167	0.12771	T	-0.546682	0.00305	T	-0.557644	0.16599	T	0.0761684574638909	0.09491	T	0.546745	0.18722	T	0.6006469	0.72726	0.48425713	0.70144	0.6006469	0.72727	0.48425713	0.70145	-5.041	0.37282	T	.	.	0.166	0.36594	B	.;.	.;.	2.478522	0.31957	18.90	0.98584754275036668	0.43284	0.01664	0.05329	N	AEFBI	0.055755	0.10250	N	-0.342586406668038	0.27546	1.512148	-0.611833345202242	0.19189	1.028438	0.00198231628040838	0.09061	0.487112	0.14033	0	0.232529	0.04832	2	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.48	1.33	0.20958	-0.336000	0.07908	.	.	0.475000	0.22001	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.1483:0.0:0.8517	5.721	0.17255	940	0.13648	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.014099	0.005051	0.013587	0.026316	0.000000	0.008621	0.018293	0.018939	0.05	2721.43	39	chr1	247966002	.	T	C	2721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.93;DP=712;ExcessHet=0;FS=4.55;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=-0.162;SOR=1.006	GT:AD:DP:GQ:PL	0/1:132,103:235:99:2733,0,3376	9	0	1	0
chr1	248452807	248452807	G	A	exonic	OR2T2	.	nonsynonymous SNV	OR2T2:NM_001004136:exon1:c.G10A:p.E4K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00174753115271	.	.	1.694e-05	0	0.0002	0	0	0	0	0	3.84e-05	1	26028	rs750175037	2.053e-06	2.052e-06	1.362e-06	2.751e-06	5.981e-05	5.5e-07	1.5e-07	9.91e-06	3.7e-06	5.981e-05	2.236e-05	0	0	0	0	0	0	0	0	6.562e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.31987	T	0.019	0.59159	D	0.004	0.12183	B	0.002	0.06944	B	0.712225	0.06264	N	1.175380	1	0.08975	N	1.8	0.47472	L	4.77	0.01563	T	-1.07	0.27876	N	0.209	0.23253	-0.9035	0.47617	T	0.005	0.01725	T	10	0.06417993	0.08473	T	0.001748	0.02960	T	0.029	0.06676	0.402	0.43245	0.556605298633	0.55320	0.5664316079613435	0.56571	1.62779757963	0.89172	0.411161035299	0.26618	T	0.019537	0.15549	T	-0.231406	0.16463	T	-0.570175	0.15434	T	0.0436598025262356	0.04359	T	.	.	.	0.044922356	0.07265	0.036965754	0.03251	0.044922356	0.07265	0.036965754	0.03250	-5.222	0.39165	T	.	.	0.126	0.26638	B	.;.;.	.;.;.	1.027424	0.14072	10.64	0.97205826908914739	0.32833	0.03351	0.08438	N	AEFBI	0.024085	0.01436	N	-1.02322931699092	0.08123	0.3797959	-1.08056321651894	0.08083	0.3959129	1.17714754994835E-6	0.01202	0.490419	0.18000	1	0.434261	0.06401	1	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.76	0.67	0.17092	-0.230000	0.09093	0.881000	0.22395	-0.203000	0.08628	0.010000	0.18352	0.010000	0.20010	0.001000	0.02609	0.2491:0.3923:0.3586:0.0	3.993	0.09038	982	0.03397	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1953.43	39	chr1	248452807	.	G	A	1953.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.485;DP=827;ExcessHet=0;FS=2.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=40.88;MQRankSum=-3.723;QD=4.76;ReadPosRankSum=0.958;SOR=0.514	GT:AD:DP:GQ:PL	0/1:298,112:410:99:1965,0,7532	9	0	1	0
chr1	248638325	248638325	G	T	exonic	OR2T35	.	nonsynonymous SNV	OR2T35:NM_001001827:exon1:c.C934A:p.Q312K	.	448	1067	5	2	0	9	0.00419972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.000651785031621	.	.	.	.	.	.	.	.	.	.	.	.	.	rs773478284	0.0008	0.0005	0.0007	0.0008	0.0029	0.0007	0.0007	0.0017	0.0015	7.549e-05	0.0003	0	0	3.975e-05	0.0029	0.0008	0.0013	0.0018	0.0006	0.0006	0.0007	0.0005	0.0016	0.0005	0.0005	0.0008	0.0007	0.0002	0	0.0005	0	0	0	0	0.0010	0.0006	0.0016	0.224	0.18691	T	0.715	0.05434	T	0.0	0.02946	B	0.003	0.08700	B	0.405105	0.13072	N	0.663946	1	0.08975	N	0.155	0.08919	N	1.28	0.35960	T	-0.3	0.11913	N	0.142	0.14196	-0.9946	0.31405	T	0.029	0.12234	T	10	0.046363443	0.03818	T	6.52E-4	0.00350	T	0.015	0.02232	.	.	0.351146185902	0.34720	0.10346781363592959	0.10276	1.95920376204	0.93432	0.353717148304	0.18468	T	0.002057	0.01461	T	-0.353512	0.04510	T	-0.745572	0.03661	T	0.0677950714799263	0.08339	T	0.342966	0.07460	T	0.05353292	0.10144	0.044990294	0.05953	0.05353292	0.10144	0.044990294	0.05953	-4.112	0.25467	T	.	.	0.081	0.08417	B	.;.	.;.	-0.469683	0.01966	0.170	0.35780286028575425	0.02265	0.00643	0.02809	N	AEFI	0.027572	0.02277	N	-1.74467045494547	0.00695	0.0300075	-1.82722822433919	0.00676	0.0300648	1.39872963777933E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.14	-4.28	0.03475	-1.465000	0.02463	-2.347000	0.03869	0.309000	0.19094	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0975:0.1411:0.3308:0.4306	2.792	0.05060	988	0.01987	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1112.43	58	chr1	248638325	.	G	T	1112.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.296;DP=1126;ExcessHet=0;FS=0.68;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=51.19;MQRankSum=0.966;QD=9.19;ReadPosRankSum=0.066;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,50:121:99:0|1:248638179_A_G:1124,0,1671:248638179	9	0	1	0
chr2	6996945	6996945	C	T	exonic	RNF144A	.	nonsynonymous SNV	RNF144A:NM_001349181:exon3:c.C19T:p.R7W,RNF144A:NM_001349182:exon3:c.C19T:p.R7W,RNF144A:NM_001349183:exon3:c.C19T:p.R7W,RNF144A:NM_001349184:exon3:c.C19T:p.R7W,RNF144A:NM_001349185:exon3:c.C19T:p.R7W,RNF144A:NM_014746:exon3:c.C19T:p.R7W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	0.0243988104386	7.7e-05	0.000199681	4.119e-05	9.61e-05	0	0	0	4.496e-05	0	6.056e-05	3.88e-05	6	154602	rs151171616	2.805e-05	2.805e-05	2.996e-05	2.613e-05	2.519e-05	2.087e-05	1.879e-05	1.175e-05	9.55e-06	0	2.236e-05	0.0004	2.519e-05	0	0	1.799e-05	0.0001	0	4.596e-05	4.593e-05	1.285e-05	8.056e-05	0.0002	2.108e-05	1.526e-05	1.171e-05	6.25e-06	0	0	0	0.0009	0	0	0	4.41e-05	0	0.0002	0.005	0.63226	D	0.011	0.64786	D	1.0	0.90584	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	0.69	0.16971	N	0.35	0.58029	T	-1.15	0.44852	N	0.69	0.69562	-0.7223	0.59349	T	0.208	0.56758	T	10	0.12987906	0.24714	T	0.024399	0.47387	T	0.230	0.53062	.	.	0.15499578495	0.15088	0.5570866115166114	0.55635	1.23702874701	0.81492	0.813836812973	0.84080	D	0.052435	0.29161	T	0.0468116	0.57932	T	0.00531206	0.70679	D	0.429997622966766	0.30060	T	0.963704	0.86510	D	0.30734438	0.53555	0.16586201	0.38348	0.30734438	0.53555	0.16586201	0.38347	-5.972	0.46045	T	.	.	0.209	0.43653	B	.;.;.	.;.;.	5.647202	0.92785	33	0.99923784332509469	0.98917	0.86629	0.45950	D	AEFDBI	0.643232	0.61992	D	0.552340413400399	0.70225	5.470324	0.583473977845704	0.73756	6.022667	0.999524012626002	0.40175	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.62	4.63	0.57175	2.388000	0.44051	3.835000	0.40014	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2566:0.7434:0.0:0.0	13.681	0.61962	929	0.16858	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1360.43	44	chr2	6996945	.	C	T	1360.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.385;DP=504;ExcessHet=0;FS=0.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.08;ReadPosRankSum=1.28;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,60:135:99:0|1:6996936_A_G:1372,0,1770:6996936	9	0	1	0
chr2	10048266	10048266	C	T	exonic	KLF11	.	nonsynonymous SNV	KLF11:NM_001177716:exon3:c.C878T:p.S293F,KLF11:NM_001177718:exon3:c.C878T:p.S293F,KLF11:NM_003597:exon3:c.C929T:p.S310F	Maturity-onset diabetes of the young, type VII	0	1520	2	0	0	2	0.000657462	.	.	.	1709907	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.136	0.00854484760822	.	.	6.777e-05	0	0	0	0	4.565e-05	0	0.0004	5.17e-05	8	154602	rs767278357	2.061e-05	2.052e-05	1.093e-05	3.041e-05	0.0005	1.462e-05	1.269e-05	0.0001	0.0001	0	0	0	0	0	0.0005	6.316e-06	3.328e-05	0.0002	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.045	0.40832	D	0.056	0.47581	T	0.011	0.15914	B	0.005	0.11217	B	0.617640	0.10808	N	0.850395	1	0.08975	N	2.685	0.78553	M	2.4	0.15724	T	-2.69	0.57920	D	0.203	0.23758	-1.0532	0.13520	T	0.042	0.17869	T	9	0.078736454	0.12585	T	0.008545	0.22581	T	0.136	0.36778	0.325	0.30711	0.507213507908	0.50361	0.2750377994239466	0.27416	0.143818494934	0.16242	0.334207236767	0.15567	T	0.261731	0.63324	T	-0.423824	0.01618	T	-0.534191	0.18869	T	0.203251879092625	0.20594	T	0.751425	0.37327	T	0.075032614	0.16879	0.119907446	0.28939	0.075032614	0.16879	0.119907446	0.28938	-6.271	0.48548	T	.	.	0.370	0.58487	A	.;.;.	.;.;.	2.929918	0.38926	20.8	0.99744136648318193	0.83703	0.12966	0.17585	N	AEFGBCI	0.109242	0.21704	N	-0.483284518054807	0.22629	1.209616	-0.450637435879886	0.23531	1.283696	0.999995813683563	0.74766	0.634777	0.41761	0	0.626922	0.53725	0	0.643519	0.47002	0	0.635551	0.53088	0	.	.	5.34	4.44	0.53164	0.489000	0.22096	2.229000	0.31515	0.580000	0.29708	0.000000	0.06391	0.012000	0.20211	0.642000	0.32476	0.0:0.5713:0.2423:0.1864	5.054	0.13859	814	0.42100	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	2374.43	35	chr2	10048266	.	C	T	2374.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.52;DP=528;ExcessHet=0;FS=3.077;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.793;SOR=0.93	GT:AD:DP:GQ:PL	0/1:112,101:213:99:2386,0,2520	9	0	1	0
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	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	149.87	81	chr2	23864893	.	T	C	149.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.021;DP=546;ExcessHet=4.5998;FS=193.172;InbreedingCoeff=-0.4024;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=0.279;SOR=8.069	GT:AD:DP:GQ:PL	0/1:41,17:58:24:24,0,458	4	0	6	0
chr2	27472341	27472341	T	A	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon15:c.A1433T:p.N478I	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	431	1073	18	0	0	18	0.00831793	.	.	.	655441	not_provided|IFT172-related_disorder|Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Retinitis_pigmentosa_71	MedGen:C3661900|.|MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.172	.	0.0008	0.00219649	0.0025	0.0004	0.0002	0.0001	0.0008	0.0015	0.0077	0.0115	0.0022898	354	154602	rs143491198	0.0016	0.0016	0.0013	0.0019	0.0120	0.0016	0.0016	0.0114	0.0111	0.0001	0.0002	0.0007	7.557e-05	0.0005	0.0017	0.0011	0.0013	0.0120	0.0009	0.0009	0.0008	0.0010	0.0104	0.0008	0.0007	0.0081	0.0073	0.0001	0	0.0001	0.0009	0	0.0002	0	0.0010	0.0009	0.0104	0.1	0.30515	T	0.106	0.37872	T	0.009	0.15093	B	0.006	0.12133	B	0.000000	0.84330	D	0.042417	0.998953	0.45755	D	1.155	0.29575	L	1.92	0.23082	T	-2.71	0.57762	D	0.858	0.85449	-1.0993	0.04177	T	0.044	0.18783	T	10	0.006679505	0.00151	T	.	.	.	0.172	0.43662	.	.	0.29527378943	0.29149	0.5422393569389612	0.54148	0.231291284145	0.25673	0.467749267817	0.34371	T	0.529917	0.83714	D	-0.402207	0.02239	T	-0.340131	0.40331	T	0.0335657611873292	0.02564	T	0.883212	0.60517	D	0.33794796	0.56115	0.24419864	0.49881	0.38292283	0.59528	0.20657907	0.44877	-7.117	0.58701	T	0.2225428325644516	0.30030	0.134	0.37633	B	.;.;.	.;.;.	3.065820	0.41192	21.3	0.96809773651058384	0.31184	0.99143	0.91861	D	AEFDBI	0.575185	0.57768	D	-0.115689624455432	0.36710	2.125554	0.0693025319933335	0.43015	2.612065	0.981649734856931	0.30291	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.69	4.54	0.55220	5.606000	0.67324	6.103000	0.53575	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.1581:0.0:0.8419	8.490	0.32255	72	0.96948	.;.;.	.	.	.	.	.	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	0	0	1	0	0.004028	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.015152	0.05	1013.43	40	chr2	27472341	.	T	A	1013.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.334;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=1.39;SOR=0.647	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1025,0,1394	9	0	1	0
chr2	32611448	32611448	G	A	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon73:c.G14257A:p.V4753I,BIRC6:NM_016252:exon73:c.G14260A:p.V4754I	.	.	.	.	.	.	.	.	0.9987	0.838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0967507351937	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237464725	1.377e-06	2.052e-06	1.37e-06	1.384e-06	1.807e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.807e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.102	0.38450	T	.	.	.	.	.	.	0.000004	0.62929	D	0.060926	1	0.81001	D	.	.	.	-1.16	0.78082	T	-0.9	0.24244	N	0.637	0.64989	-0.2568	0.76174	T	0.454	0.78720	T	9	0.5507342	0.64241	D	0.096751	0.76656	D	0.361	0.68141	0.301	0.26843	0.742858459262	0.74054	0.4912516198523563	0.49046	0.245701231888	0.27094	0.775584161282	0.78262	T	.	.	.	0.0659311	0.60349	T	-0.143071	0.59851	T	0.774316285448076	0.44701	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19720	B	.	.	3.950658	0.57877	23.9	0.99614270990187148	0.74992	0.96648	0.70202	D	AEFDBHCI	0.912989	0.87436	D	0.499343894379197	0.67051	5.030487	0.542990878420343	0.70913	5.575395	0.999999999982636	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	9.909000	0.98664	11.696000	0.94428	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.875000	0.41745	0.0:0.0:1.0:0.0	17.794	0.88474	182	0.92924	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	799.14	34	chr2	32611448	.	G	A	799.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.396;DP=366;ExcessHet=0.2348;FS=1.978;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.157;SOR=0.99	GT:AD:DP:GQ:PL	0/1:29,22:51:99:536,0,745	8	0	2	0
chr2	61311681	61311681	T	C	exonic	USP34	.	nonsynonymous SNV	USP34:NM_014709:exon27:c.A3676G:p.I1226V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0124516661283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.428e-06	3.42e-06	4.092e-06	2.757e-06	4.501e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.501e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.027	0.55341	D	0.518	0.37483	P	0.456	0.46291	P	0.000000	0.84330	D	0.000000	0.999994	0.58761	D	1.245	0.31408	L	3.69	0.04114	T	-0.75	0.21003	N	0.394	0.43514	-0.9188	0.45716	T	0.021	0.08686	T	10	0.30212247	0.47751	T	0.012452	0.31033	T	0.152	0.39956	0.367	0.37524	0.406687239423	0.40287	0.366161326622139	0.36530	.	.	0.775499463081	0.78249	T	0.034899	0.23505	T	-0.140132	0.29869	T	-0.439066	0.28912	T	0.914748013019562	0.57151	D	0.946205	0.79443	D	0.1526354	0.34638	0.13903384	0.33185	0.1526354	0.34638	0.13903384	0.33184	-3.696	0.19259	T	.	.	0.182	0.39579	B	.	.	4.306020	0.65784	24.9	0.99580032888227688	0.72921	0.98768	0.86602	D	AEFGBI	0.862548	0.78087	D	0.287391285643828	0.55507	3.714918	0.402896314042455	0.61747	4.379027	0.999995424664304	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.28	5.28	0.74118	7.951000	0.87297	7.901000	0.73554	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.506	0.75472	201	0.92177	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1687.43	40	chr2	61311681	.	T	C	1687.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.158;DP=490;ExcessHet=0;FS=1.383;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=0.83;SOR=0.54	GT:AD:DP:GQ:PL	0/1:60,73:133:99:1699,0,1354	9	0	1	0
chr2	67403239	67403239	G	C	exonic	ETAA1	.	nonsynonymous SNV	ETAA1:NM_019002:exon5:c.G557C:p.S186T	.	512	984	23	3	0	29	0.0145218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	0.0006	0.000599042	0.0025	0	0.0008	0.0001	0.0002	0.0014	0.0077	0.0144	0.0002911	45	154602	rs201056460	0.0016	0.0016	0.0012	0.0019	0.0190	0.0015	0.0015	0.0160	0.0149	0.0003	0.0010	0.0037	5.083e-05	3.882e-05	0.0190	0.0008	0.0025	0.0120	0.0012	0.0012	0.0009	0.0014	0.0085	0.0010	0.0010	0.0064	0.0057	7.228e-05	0	0.0020	0.0040	0	0	0.0102	0.0012	0.0019	0.0085	0.009	0.57480	D	0.035	0.52389	D	0.01	0.15535	B	0.022	0.19653	B	0.005845	0.32460	N	0.352858	0.99806	0.22374	N	1.04	0.26193	L	2.16	0.19166	T	-1.3	0.32590	N	0.061	0.03283	-1.0206	0.23519	T	0.039	0.16763	T	10	0.0032284558	0.00055	T	.	.	.	0.027	0.05988	.	.	0.082315109003	0.07666	0.050468486461131404	0.04989	0.038995642377	0.04153	0.419647246599	0.27787	T	0.022452	0.17305	T	-0.624252	0.00104	T	-0.66151	0.08164	T	0.0128142455102638	0.00218	T	0.514149	0.16548	T	0.10648474	0.25179	0.11903876	0.28733	0.10648474	0.25178	0.11903876	0.28732	-4.154	0.26082	T	.	.	0.085	0.10352	B	.	.	1.547575	0.19836	14.46	0.94698218446344595	0.25348	0.78913	0.39008	D	AEFGBI	0.113732	0.22429	N	-0.428456259082109	0.24476	1.321859	-0.263942683120013	0.29295	1.640143	0.998497796866115	0.37071	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	6.16	2.16	0.26663	1.707000	0.37507	2.593000	0.33479	-0.046000	0.17342	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.7377:0.0:0.2623:0.0	10.797	0.45668	948	0.11499	.	.	.	.	.	.	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	0.012109	0.005102	0.004076	0.008772	0.000000	0.008772	0.030675	0.026515	0.05	280.43	36	chr2	67403239	.	G	C	280.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.246;DP=350;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-1.456;SOR=0.693	GT:AD:DP:GQ:PL	0/1:16,14:30:99:292,0,340	9	0	1	0
chr2	70212810	70212810	T	C	exonic	TIA1	.	nonsynonymous SNV	TIA1:NM_001351514:exon11:c.A842G:p.N281S,TIA1:NM_001351509:exon12:c.A1043G:p.N348S,TIA1:NM_001351510:exon12:c.A1034G:p.N345S,TIA1:NM_001351512:exon12:c.A932G:p.N311S,TIA1:NM_001351513:exon12:c.A926G:p.N309S,TIA1:NM_022037:exon12:c.A1037G:p.N346S,TIA1:NM_001351508:exon13:c.A1067G:p.N356S,TIA1:NM_001351511:exon13:c.A959G:p.N320S,TIA1:NM_001351515:exon13:c.A767G:p.N256S,TIA1:NM_001351524:exon13:c.A650G:p.N217S,TIA1:NM_001351525:exon13:c.A650G:p.N217S,TIA1:NM_022173:exon13:c.A1070G:p.N357S,TIA1:NM_001351517:exon15:c.A647G:p.N216S	Welander distal myopathy, Autosomal recessive, Autosomal dominant	433	1063	25	1	0	27	0.0125406	.	.	.	250766	TIA1-related_disorder|not_specified|Welander_distal_myopathy|Amyotrophic_lateral_sclerosis_26_with_or_without_frontotemporal_dementia|not_provided	.|MedGen:CN169374|MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603|MONDO:MONDO:0030885,MedGen:C5436882,OMIM:619133|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.086	.	0.0068	0.00159744	0.0071	0.0011	0.0017	0.0001	0.0062	0.0096	0.0121	0.0082	0.006714	1038	154602	rs116621885	0.0074	0.0074	0.0072	0.0076	0.0097	0.0073	0.0072	0.0091	0.0089	0.0008	0.0018	0.0111	0	0.0062	0.0071	0.0078	0.0075	0.0097	0.0058	0.0058	0.0062	0.0054	0.0098	0.0055	0.0054	0.0092	0.0090	0.0014	0	0.0017	0.0095	0.0004	0.0044	0.0068	0.0098	0.0033	0.0085	0.774	0.28271	T	0.508	0.18018	T	0.224	0.44504	B	0.035	0.38393	B	0.000000	0.84330	D	0.000000	0.999885	0.50402	D	0.69	0.16971	N	1.87	0.24085	T	-0.69	0.20576	N	0.145	0.17966	-1.1318	0.01698	T	0.042	0.18035	T	10	0.008425117	0.00191	T	.	.	.	0.086	0.25016	.	.	0.505014679873	0.50138	0.7826891376531397	0.78219	0.449003188195	0.44711	0.48201584816	0.36334	T	0.19771	0.55447	T	-0.53217	0.00373	T	-0.525526	0.19737	T	0.021698436316006	0.00876	T	0.907309	0.80370	D	0.13183007	0.30715	0.083171055	0.19040	0.100094944	0.23631	0.083171055	0.19040	-3.659	0.20342	T	.	.	0.058	0.00693	B	.;.;.;.	.;.;.;.	2.930871	0.38935	20.8	0.96730909776813989	0.30888	0.81882	0.41199	D	AEFDGBHCI	0.335452	0.43389	N	0.132091676009274	0.47965	3.014956	0.267106633268196	0.53630	3.530868	0.999999989995281	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	5.88	5.88	0.94564	2.023000	0.40660	7.952000	0.75854	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:0.0:1.0	15.114	0.72058	492	0.76569	.;.;.;RNA recognition motif domain	.	.	.	.	rs116621885	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	0.007553	0.005051	0.006793	0.002924	0.000000	0.008621	0.012195	0.018939	0.05	839.43	34	chr2	70212810	.	T	C	839.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.276;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.817;SOR=0.728	GT:AD:DP:GQ:PL	0/1:36,39:75:99:851,0,870	9	0	1	0
chr2	70787690	70787690	G	C	exonic	FIGLA	.	nonsynonymous SNV	FIGLA:NM_001004311:exon2:c.C343G:p.Q115E	Premature ovarian failure 6	.	.	.	.	.	.	.	.	.	.	2685245	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.365	0.067717286051	.	.	0	0	0	0	0	0	0	0	.	.	.	rs782450302	2.701e-05	2.941e-05	1.512e-05	3.911e-05	7.16e-05	2.023e-05	1.776e-05	2.014e-05	1.755e-05	0	7.16e-05	0	0	1.907e-05	0	2.811e-05	6.683e-05	0	1.314e-05	1.313e-05	2.569e-05	0	6.542e-05	2.18e-06	8.2e-07	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0	0	0.215	0.19293	T	0.043	0.49942	D	0.822	0.45767	P	0.42	0.45080	B	0.068370	0.21677	N	0.379011	0.540	0.31419	N	-0.07	0.04846	N	-4.62	0.97884	D	-1.25	0.31576	N	0.414	0.45426	0.615	0.92095	D	0.810	0.93600	D	10	0.35766548	0.52476	T	0.067717	0.70245	D	0.365	0.68495	0.361	0.36548	0.505014679873	0.50138	0.34343348740458496	0.34256	0.299618368744	0.32332	0.257922559977	0.04647	T	0.510988	0.82711	D	-0.0100794	0.50254	T	-0.0707269	0.65575	T	0.686711549758911	0.40095	D	0.834017	0.50309	T	0.19892414	0.41813	0.32274023	0.58211	0.20696437	0.42887	0.3316258	0.59018	-9.238	0.69216	D	0.209715981369254	0.28080	0.102	0.17785	B	.	.	3.876082	0.56301	23.7	0.98490452859181532	0.42085	0.93333	0.57936	D	AEFBI	0.479833	0.52181	N	0.119307135031492	0.47363	2.963119	0.210091920010438	0.50408	3.233044	0.999985418439054	0.51787	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.45	5.45	0.79688	5.636000	0.67521	11.451000	0.92797	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.987000	0.62547	0.0:0.0:1.0:0.0	16.822	0.85612	878	0.29785	Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain|Myc-type, basic helix-loop-helix (bHLH) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	727.43	41	chr2	70787690	.	G	C	727.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.404;DP=388;ExcessHet=0;FS=0.883;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.887;SOR=0.512	GT:AD:DP:GQ:PL	0/1:38,34:74:99:739,0,861	9	0	1	0
chr2	74416088	74416088	C	T	exonic	C2orf81	.	nonsynonymous SNV	C2orf81:NM_001145054:exon2:c.G181A:p.D61N,C2orf81:NM_001316764:exon2:c.G172A:p.D58N	.	417	1033	69	3	0	75	0.0350304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	.	0.0096	0.00579073	0.0162	0.0019	0.0149	0.0017	0.0055	0.0139	0.0146	0.0245	0.0034346	531	154602	rs61999261	0.0098	0.0094	0.0093	0.0103	0.0233	0.0097	0.0096	0.0224	0.0220	0.0013	0.0036	0.0223	5.664e-05	0.0016	0.0164	0.0097	0.0093	0.0233	0.0068	0.0068	0.0069	0.0067	0.0217	0.0065	0.0063	0.0184	0.0171	0.0017	0.0471	0.0037	0.0239	0	0.0015	0.0272	0.0095	0.0071	0.0217	0.007	0.59928	D	0.009	0.66756	D	0.999	0.77913	D	0.964	0.71005	D	0.015231	0.28305	N	0.169000	0.730451	0.81001	D	.	.	.	.	.	.	-3.34	0.66325	D	0.115	0.18239	-0.1785	0.78218	T	0.291	0.66259	T	9	0.0066019595	0.00149	T	.	.	.	0.170	0.43303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.48828	0.00664	T	-0.456571	0.26973	T	0.0132588402567505	0.00237	T	0.819918	0.47908	T	0.1454031	0.33332	0.16703159	0.38556	0.1454031	0.33332	0.16703159	0.38555	-8.235	0.62660	D	.	.	0.272	0.56638	B	.;.;.;.	.;.;.;.	4.460103	0.69407	25.4	0.99842137099818384	0.92229	0.66605	0.33136	D	AEFDBCI	0.322372	0.42488	N	0.617773032868231	0.74299	6.109054	0.587038929016393	0.74008	6.064898	0.999999996186617	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.603688	0.36954	0	0.63947	0.58350	0	.	.	4.99	4.99	0.65942	2.130000	0.41687	4.820000	0.45111	0.549000	0.26987	0.959000	0.33545	1.000000	0.68203	0.860000	0.40782	0.0:1.0:0.0:0.0	17.569	0.87828	532	0.73501	.;.;.;.	.	.	.	.	.	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	0.023810	0.010638	0.000000	0.012605	0.000000	0.000000	0.075269	0.023810	0.1	3457.14	33	chr2	74416088	.	C	T	3457.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.89;DP=550;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.9;ReadPosRankSum=-0.331;SOR=0.688	GT:AD:DP:GQ:PL	0/1:44,61:105:99:1524,0,1111	8	0	2	0
chr2	74532698	74532698	G	A	exonic	HTRA2	.	nonsynonymous SNV	HTRA2:NM_013247:exon7:c.G1195A:p.G399S	3-methylglutaconic aciduria, type VIII, Autosomal recessive	1	1493	26	2	0	30	0.00994695	.	.	.	19380	not_provided|Parkinson_disease_13,_autosomal_dominant,_susceptibility_to	MedGen:C3661900|MONDO:MONDO:0012466,MedGen:C1853202,OMIM:610297,Orphanet:2828	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.788	.	0.0034	0.00359425	0.0044	0.0006	0.0016	0	0.0002	0.0040	0.0044	0.0144	0.0040685	629	154602	rs72470545	0.0040	0.0040	0.0035	0.0044	0.0145	0.0039	0.0038	0.0138	0.0135	0.0007	0.0016	0.0033	5.038e-05	0.0001	0.0080	0.0037	0.0037	0.0145	0.0027	0.0027	0.0025	0.0028	0.0129	0.0024	0.0024	0.0103	0.0094	0.0007	0.0022	0.0019	0.0043	0	9.423e-05	0.0204	0.0038	0.0024	0.0129	0.02	0.49613	D	0.021	0.58089	D	0.986	0.61523	D	0.936	0.67150	D	0.000014	0.62929	D	0.113567	0.999998	0.81001	A	2.31	0.66127	M	-1.95	0.85003	D	-2.13	0.48354	N	0.304	0.34336	0.540	0.91096	D	0.629	0.86985	D	9	0.009953827	0.00223	T	.	.	.	0.788	0.92988	.	.	0.93517315524	0.93450	0.7741013277673383	0.77360	1.36314406624	0.84392	0.395702064037	0.24471	T	0.329495	0.69979	T	-0.107422	0.35194	T	0.0845964	0.75886	D	0.0282974163263637	0.01731	T	0.940906	0.77861	D	0.41837454	0.61984	0.33673406	0.59472	0.41891634	0.62019	0.38411376	0.63359	-8.881	0.66927	D	0.3577732525459057	0.45448	0.263	0.49797	B	.	.	4.882135	0.80076	27.2	0.99865328837292089	0.94366	0.93935	0.59619	D	AEFBHCI	0.871255	0.79257	D	0.625185260027072	0.74771	6.189748	0.564910731327461	0.72443	5.810319	0.99999999520885	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.87	3.99	0.45527	4.924000	0.63118	10.013000	0.83102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0932:0.0:0.9068:0.0	10.694	0.45085	189	0.92630	PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Likely benign	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	1	0	0.007049	0.015152	0.001359	0.005848	0.000000	0.000000	0.003049	0.022727	0.05	2156.43	37	chr2	74532698	.	G	A	2156.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.061;DP=504;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=-0.043;SOR=0.703	GT:AD:DP:GQ:PL	0/1:99,84:183:99:2168,0,2575	9	0	1	0
chr2	75694401	75694401	C	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon6:c.G353A:p.R118H,GCFC2:NM_003203:exon6:c.G860A:p.R287H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.0154860921682	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs768819747	2.715e-05	4.659e-05	2.77e-05	2.659e-05	0.0001	1.971e-05	1.745e-05	4.812e-05	2.829e-05	0.0001	0	0	0	0	0	2.969e-05	1.894e-05	0	3.292e-05	3.285e-05	3.86e-05	2.696e-05	7.251e-05	1.263e-05	7.99e-06	1.923e-05	1.033e-05	7.251e-05	0	0	0	0	0	0	2.944e-05	0	0	0.004	0.65419	D	0.005	0.76473	D	0.671	0.41189	P	0.082	0.29098	B	0.000029	0.55875	N	0.118375	0.887949	0.81001	D	2.825	0.82220	M	2.35	0.16217	T	-2.86	0.60188	D	0.178	0.22486	-1.1030	0.03747	T	0.042	0.17952	T	10	0.22160521	0.38890	T	0.015486	0.36250	T	0.112	0.31546	0.591	0.71999	0.421550847248	0.41774	0.36285528683646373	0.36199	0.509939644612	0.49129	0.34860637784	0.17717	T	0.095056	0.39543	T	-0.211908	0.19111	T	-0.542167	0.18084	T	0.796099901199341	0.46090	D	0.854215	0.54540	D	0.13721517	0.31781	0.12743695	0.30676	0.13721517	0.31781	0.12743695	0.30675	-6.991	0.55438	T	.	.	0.084	0.12418	B	.;.	.;.	4.674612	0.74743	26.2	0.9989257226815994	0.96666	0.71319	0.34962	D	AEFBI	0.054647	0.09954	N	-0.0412426570035636	0.39994	2.367677	0.00653103605069172	0.40018	2.381623	0.0156504091857838	0.12738	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.29	3.49	0.39065	2.256000	0.42886	3.876000	0.40213	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8336:0.0:0.1664	10.104	0.41695	946	0.12043	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	514.43	34	chr2	75694401	.	C	T	514.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.287;DP=354;ExcessHet=0;FS=1.226;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=-1.38;SOR=0.502	GT:AD:DP:GQ:PL	0/1:18,23:41:99:526,0,372	9	0	1	0
chr2	85556252	85556252	-	C	exonic	GGCX	.	frameshift insertion	GGCX:NM_001142269:exon4:c.376dupG:p.D126Gfs*8,GGCX:NM_000821:exon5:c.547dupG:p.D183Gfs*8	Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency;Vitamin K-dependent clotting factors, combined deficiency of, 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1846.39	37	chr2	85556252	.	T	TC	1846.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=456;ExcessHet=0;FS=6.474;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.186;SOR=1.22	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1858,0,2292	9	0	1	0
chr2	94588547	94588547	G	A	exonic	LOC100509620	.	nonsynonymous SNV	LOC100509620:NM_001382497:exon2:c.G26A:p.R9Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296780555	5.543e-06	7.609e-06	8.681e-06	2.66e-06	5.297e-05	1.3e-06	8.8e-07	7e-07	2.6e-07	5.297e-05	0	0	0	0	0	4.182e-06	0	1.642e-05	1.982e-05	1.97e-05	2.582e-05	1.353e-05	7.278e-05	5.27e-06	2.46e-06	1.93e-05	1.035e-05	7.278e-05	0	0	0	0	0	0	0	0	0	0.06	0.37326	T	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.3	0.87671	D	-0.73	0.20576	N	0.161	0.16864	.	.	.	.	.	.	.	0.15059444	0.28480	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517648	0.16760	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.15609	B	.	.	2.890306	0.38275	20.7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326000	0.19391	2.266000	0.31796	-0.428000	0.05209	0.470000	0.26722	0.994000	0.32194	0.031000	0.13245	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	232.43	17	chr2	94588547	.	G	A	232.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.474;DP=208;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=32.34;MQRankSum=-1.504;QD=8.61;ReadPosRankSum=1.19;SOR=0.293	GT:AD:DP:GQ:PL	0/1:16,11:27:99:244,0,407	9	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I,TEKT4:NM_144705:exon6:c.C1126A:p.L376I	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0024401301091	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74658435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.207	0.29891	B	0.092	0.30031	B	0.004769	0.33407	N	0.246841	0.99495	0.23405	N	0.755	0.19153	N	4.47	0.02084	T	0.82	0.01813	N	0.154	0.15888	-0.8811	0.49673	T	0.003	0.01026	T	10	0.04464045	0.03444	T	0.00244	0.04813	T	0.085	0.24743	0.341	0.33302	0.0716867268079	0.06686	0.19181908011527898	0.19099	0.0456283365019	0.04953	0.691997289658	0.65993	T	0.022278	0.17204	T	-0.227197	0.17020	T	-0.564129	0.15990	T	0.118842300974592	0.14317	T	0.485551	0.14815	T	0.08219759	0.18923	0.12475681	0.30067	0.08219759	0.18923	0.12475681	0.30067	-2.689	0.07211	T	.	.	0.085	0.10014	B	.	.	0.349679	0.07231	3.825	0.6655202341939721	0.08092	0.00372	0.01892	N	AEFDGBI	0.024577	0.01544	N	-1.14107701514534	0.05928	0.2715614	-1.13613817439115	0.07019	0.3399133	3.91639178412095E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	2.43	1.05	0.19280	-0.335000	0.07917	2.530000	0.33163	0.302000	0.18967	0.001000	0.13787	1.000000	0.68203	0.052000	0.15357	0.3227:0.6773:0.0:0.0	7.455	0.26431	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	2261.95	255	chr2	94876587	.	C	A	2261.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.331;DP=2020;ExcessHet=7.0302;FS=4.884;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.43;MQRankSum=-15.6;QD=1.32;ReadPosRankSum=-3.168;SOR=1.432	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:262,21:283:93:0|1:94876587_C_A:93,0,10894:94876587	3	0	7	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G,TEKT4:NM_144705:exon6:c.C1157G:p.A386G	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.00662812679854	.	.	.	.	.	.	.	.	.	.	0.0002781	43	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.026	0.55759	D	0.986	0.61523	D	0.919	0.65474	D	0.000066	0.52346	D	0.125962	0.999996	0.58761	D	3.695	0.94570	H	3.93	0.03435	T	-2.62	0.56301	D	0.22	0.24634	-1.1093	0.03130	T	0.045	0.19478	T	10	0.34525645	0.51502	T	0.006628	0.17501	T	0.223	0.52023	0.627	0.76254	0.325533332567	0.32158	0.46843450301837664	0.46762	0.206080854031	0.23033	0.606577515602	0.53832	T	0.278563	0.65122	T	-0.0817015	0.39437	T	-0.355135	0.38615	T	0.993828952312469	0.84790	D	0.723528	0.33695	T	0.19832417	0.41730	0.4733884	0.69475	0.19832417	0.41730	0.4733884	0.69476	-7.747	0.59334	D	.	.	0.123	0.25656	B	.	.	3.340079	0.46023	22.2	0.99465032145053101	0.65996	0.46731	0.27825	N	AEFDGBI	0.300572	0.40933	N	0.291003033652373	0.55691	3.733242	0.0724350553839575	0.43168	2.624199	0.878548229655452	0.25568	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	3.467000	0.52842	4.098000	0.41847	0.302000	0.18967	0.053000	0.21524	0.999000	0.35428	0.607000	0.31564	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	12818.0	371	chr2	94876618	.	C	G	12818.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.592;DP=2902;ExcessHet=10.3881;FS=1.546;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.49;MQRankSum=-16.9;QD=4.98;ReadPosRankSum=-3.186;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:345,68:413:99:0|1:94876587_C_A:1817,0,14282:94876587	2	0	8	0
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C,TEKT4:NM_144705:exon6:c.C1171T:p.R391C	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00282003103799	.	.	0.0020	0.0044	0.0012	0.0058	0	0.0016	0.0025	0.0012	0.00073	19	26028	rs72817671	5.478e-06	9.577e-06	5.451e-06	5.507e-06	7.196e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.196e-06	0	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0.0002	0.078	0.33923	T	0.094	0.39645	T	0.048	0.22112	B	0.017	0.18140	B	0.104906	0.19681	N	0.502966	0.998961	0.45775	D	2.51	0.73131	M	4.19	0.02716	T	-4.17	0.75456	D	0.327	0.36779	-0.9567	0.39789	T	0.009	0.03315	T	10	0.010076523	0.00226	T	0.00282	0.05898	T	0.180	0.45073	.	.	0.280181792013	0.27631	0.3283832477789456	0.32751	0.0418521914883	0.04503	0.566292226315	0.48154	T	0.161975	0.50645	T	-0.0952065	0.37216	T	-0.374534	0.36360	T	0.0299758459612643	0.01985	T	0.763824	0.39073	T	0.11296644	0.26684	0.099358894	0.23720	0.11296644	0.26684	0.099358894	0.23719	-7.259	0.55903	T	.	.	0.087	0.11414	B	.	.	2.884469	0.38179	20.7	0.9739629417086707	0.33750	0.03769	0.09084	N	AEFDGBI	0.024782	0.01590	N	-0.521150392773251	0.21396	1.135229	-0.512733045882346	0.21807	1.181449	3.92921537291663E-4	0.06820	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	1.05	0.19280	0.158000	0.16239	-0.300000	0.10122	0.302000	0.18967	0.046000	0.21249	0.000000	0.08366	0.706000	0.34326	0.5496:0.4504:0.0:0.0	6.095	0.19238	.	.	.	.	.	.	.	.	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	0.015609	0.035354	0.004076	0.005848	0.000000	0.008621	0.033537	0.018939	0.45	17750.0	414	chr2	94876632	.	C	T	17750.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.235;DP=3296;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.17;MQRankSum=-17.88;QD=5.56;ReadPosRankSum=-1.61;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,81:462:99:0|1:94876587_C_A:2254,0,15708:94876587	1	0	9	0
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V,TEKT4:NM_144705:exon6:c.A1210G:p.I404V	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.00380674609401	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs142133592	3.422e-06	3.42e-06	4.086e-06	2.751e-06	3.597e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.044	0.49663	D	0.967	0.56408	D	0.77	0.56828	P	0.000003	0.62929	D	0.059094	0.999993	0.58761	D	2.465	0.71551	M	3.8	0.03781	T	-0.93	0.24898	N	0.355	0.39659	-1.1543	0.00903	T	0.035	0.15030	T	10	0.2894683	0.46528	T	0.003807	0.08899	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.38576410498893454	0.38491	0.041304716601	0.04434	0.519737362862	0.41590	T	0.070106	0.33877	T	-0.102007	0.36092	T	-0.384302	0.35219	T	0.773092746734619	0.44626	D	0.518148	0.16784	T	0.11624111	0.27419	0.19920714	0.43791	0.11624111	0.27418	0.19920714	0.43790	-6.086	0.46993	T	.	.	0.080	0.07650	B	.	.	2.197892	0.28028	17.66	0.99758744490040718	0.84851	0.77619	0.38185	D	AEFDGBI	0.245424	0.36636	N	0.178097147237031	0.50149	3.207675	0.0117110839863197	0.40257	2.399706	0.274437957628434	0.18925	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	2.475000	0.44821	2.894000	0.35409	0.373000	0.20310	0.967000	0.34061	1.000000	0.68203	0.500000	0.29017	1.0:0.0:0.0:0.0	8.354	0.31480	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	22415.0	462	chr2	94876671	.	A	G	22415.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.483;DP=3731;ExcessHet=15.1594;FS=0.656;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.88;MQRankSum=-18.99;QD=6.13;ReadPosRankSum=4.6;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:451,96:547:99:0|1:94876671_A_G:2612,0,18296:94876671	1	0	9	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T,TEKT4:NM_144705:exon6:c.G1213A:p.A405T	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	0.0115815	0.0037	0.0032	0.0047	0.0156	0.0008	0.0021	0.0047	0.0045	0.0058783	153	26028	rs75603622	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.267	0.22561	T	0.003	0.11197	B	0.013	0.16460	B	0.039834	0.24126	N	0.433987	0.997095	0.22793	N	3.49	0.92661	M	4.15	0.02815	T	-1.68	0.40082	N	0.141	0.14054	-0.9396	0.42679	T	0.013	0.04985	T	10	0.0041491687	0.00082	T	.	.	.	0.156	0.40720	.	.	0.117506650769	0.11410	0.2704892680538193	0.26961	0.0299475133996	0.03088	0.393358677626	0.24142	T	0.056124	0.30199	T	-0.161562	0.26520	T	-0.469849	0.25532	T	0.0468978844343634	0.04948	T	0.689731	0.29897	T	0.042698704	0.06523	0.104346365	0.25059	0.042698704	0.06523	0.104346365	0.25058	-4.749	0.33991	T	.	.	0.081	0.08129	B	.	.	1.062693	0.14447	11.02	0.91920144370954304	0.21243	0.00957	0.03676	N	AEFDGBI	0.022506	0.01133	N	-1.17567910300973	0.05369	0.2445992	-1.31751710428587	0.04204	0.1977864	0.0017749666691999	0.08872	0.646311	0.45356	0	0.626922	0.53725	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	-2.21	0.06581	0.036000	0.13706	2.580000	0.33410	-0.673000	0.04287	0.001000	0.13787	0.571000	0.25572	0.394000	0.26647	0.1368:0.0:0.6998:0.1633	6.926	0.23596	.	.	.	.	.	.	.	.	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	0.012588	0.025253	0.002717	0.011696	0.000000	0.000000	0.021341	0.018939	0.45	22825.0	467	chr2	94876674	.	G	A	22825.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-5.542;DP=3741;ExcessHet=15.1594;FS=0.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=56.87;MQRankSum=-19.21;QD=6.22;ReadPosRankSum=4.81;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:456,96:552:99:0|1:94876671_A_G:2597,0,18434:94876671	1	0	9	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	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	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4	9474.98	407	chr2	94876731	.	C	T	9474.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-2.787;DP=3262;ExcessHet=10.3881;FS=2.421;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.44;MQRankSum=-19.06;QD=3.04;ReadPosRankSum=-0.667;SOR=0.952	GT:AD:DP:GQ:PL	0/1:407,72:479:99:821,0,10072	2	0	8	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil 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	.	.	.	.	.	.	.	.	0.5	10728.0	198	chr2	95855390	.	T	C	10728.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=3.24;DP=2185;ExcessHet=22.563;FS=21.098;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.81;MQRankSum=-10.64;QD=5.08;ReadPosRankSum=-6.398;SOR=2.057	GT:AD:DP:GQ:PL	0/1:158,55:213:99:1248,0,3845	0	0	10	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil 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	.	.	.	.	.	.	.	.	0.5	29732.0	323	chr2	95855549	.	T	C	29732.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.71;DP=3043;ExcessHet=22.563;FS=10.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.38;MQRankSum=-11.67;QD=10.06;ReadPosRankSum=0.065;SOR=1.292	GT:AD:DP:GQ:PL	0/1:145,137:282:99:3120,0,3523	0	0	10	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil 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	.	.	.	.	.	.	.	.	0.5	23128.0	277	chr2	95855576	.	A	G	23128.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.388;DP=2563;ExcessHet=22.563;FS=25.938;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.02;MQRankSum=-11.14;QD=9.29;ReadPosRankSum=-3.416;SOR=1.932	GT:AD:DP:GQ:PL	0/1:140,92:232:99:2346,0,3573	0	0	10	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil 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	.	.	.	.	.	.	.	.	0.4	2532.98	278	chr2	95855586	.	T	C	2532.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.765;DP=2381;ExcessHet=10.3881;FS=20.257;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=47.03;MQRankSum=-5.391;QD=1.31;ReadPosRankSum=-1.294;SOR=2.4	GT:AD:DP:GQ:PL	0/1:198,25:223:99:153,0,7414	2	0	8	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil 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	.	.	.	.	.	.	.	.	0.5	16467.0	271	chr2	95855588	.	T	C	16467.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.817;DP=2387;ExcessHet=22.563;FS=33.426;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=47.27;MQRankSum=-10.54;QD=7.16;ReadPosRankSum=-3.626;SOR=2.329	GT:AD:DP:GQ:PL	0/1:145,68:213:99:1672,0,3785	0	0	10	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10909.0	176	chr2	95859969	.	A	AT	10909.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.932;DP=1221;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.94;MQRankSum=-7.848;QD=9.05;ReadPosRankSum=0.563;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,16:59:99:0|1:95859969_A_AT:542,0,1737:95859969	0	0	10	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	10942.0	176	chr2	95859970	.	G	T	10942.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.161;DP=1219;ExcessHet=22.563;FS=3.703;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.93;MQRankSum=-7.945;QD=9.05;ReadPosRankSum=0.658;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,16:59:99:0|1:95859969_A_AT:542,0,1737:95859969	0	0	10	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	10894.0	178	chr2	95859975	.	C	T	10894.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.325;DP=1203;ExcessHet=22.563;FS=2.826;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.89;MQRankSum=-7.848;QD=9.12;ReadPosRankSum=0.594;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,16:58:99:0|1:95859969_A_AT:545,0,1715:95859969	0	0	10	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	9586.04	176	chr2	95859988	.	T	C	9586.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.058;DP=1199;ExcessHet=22.563;FS=2.87;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.82;MQRankSum=-7.568;QD=8.1;ReadPosRankSum=-0.168;SOR=0.973	GT:AD:DP:GQ:PL	0/1:41,16:57:99:468,0,992	0	0	10	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	7776.04	171	chr2	95860002	.	T	A	7776.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.667;DP=1147;ExcessHet=22.563;FS=2.169;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.83;MQRankSum=-6.851;QD=6.85;ReadPosRankSum=-0.911;SOR=0.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,14:56:99:0|1:95860002_T_A:421,0,1670:95860002	0	0	10	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	8461.04	165	chr2	95860007	.	A	T	8461.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.586;DP=1122;ExcessHet=22.563;FS=3.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.81;MQRankSum=-7.219;QD=7.6;ReadPosRankSum=-1.213;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,12:54:99:0|1:95860002_T_A:377,0,1676:95860002	0	0	10	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	7240.04	151	chr2	95860020	.	G	A	7240.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.1;DP=1028;ExcessHet=22.563;FS=5.221;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.247;QD=7.14;ReadPosRankSum=-1.475;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,10:43:99:.:.:321,0,1295:.	0	0	10	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	6874.04	150	chr2	95860023	.	A	C	6874.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.07;DP=1000;ExcessHet=22.563;FS=6.519;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.71;MQRankSum=-7.331;QD=6.9;ReadPosRankSum=-1.636;SOR=1.231	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,10:40:99:.:.:327,0,1202:.	0	0	10	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	4291.02	127	chr2	95860046	.	C	A	4291.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.879;DP=789;ExcessHet=15.1594;FS=10.476;InbreedingCoeff=-0.8183;MLEAC=9;MLEAF=0.45;MQ=58.48;MQRankSum=-7.511;QD=5.8;ReadPosRankSum=-0.896;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,5:26:99:.:.:147,0,589:.	1	0	9	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6780.01	153	chr2	95927222	.	G	GAT	6780.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.39;DP=1300;ExcessHet=22.563;FS=36.882;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.27;MQRankSum=-8.534;QD=5.25;ReadPosRankSum=-4.266;SOR=3.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,13:98:99:0|1:95927222_G_GAT:290,0,3511:95927222	0	0	10	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10021.0	172	chr2	95927226	.	GTT	G	10021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.93;DP=1457;ExcessHet=22.563;FS=15.566;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.12;MQRankSum=-9.165;QD=6.89;ReadPosRankSum=-4.116;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,16:110:99:0|1:95927222_G_GAT:389,0,3880:95927222	0	0	10	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	13156.0	192	chr2	95927234	.	T	C	13156.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.459;DP=1595;ExcessHet=22.563;FS=10.628;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.9;MQRankSum=-9.948;QD=8.25;ReadPosRankSum=-5.267;SOR=1.435	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,18:118:99:0|1:95927222_G_GAT:455,0,4145:95927222	0	0	10	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	26684.0	255	chr2	95927252	.	A	G	26684.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.671;DP=2139;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.89;MQRankSum=-12.53;QD=12.48;ReadPosRankSum=-5.1;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,37:162:99:0|1:95927222_G_GAT:1177,0,5137:95927222	0	0	10	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	36703.0	299	chr2	95927268	.	C	A	36703.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-4.947;DP=2541;ExcessHet=22.563;FS=3.353;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.06;MQRankSum=-13.88;QD=14.46;ReadPosRankSum=-4.025;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,57:198:99:0|1:95927222_G_GAT:1908,0,5742:95927222	0	0	10	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	37021.0	320	chr2	95927277	.	C	T	37021.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.131;DP=2686;ExcessHet=22.563;FS=3.336;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.08;MQRankSum=-14.3;QD=14.04;ReadPosRankSum=-1.349;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,58:207:99:0|1:95927222_G_GAT:1906,0,5970:95927222	0	0	10	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	13585.0	206	chr2	95929092	.	T	C	13585.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.99;DP=1657;ExcessHet=22.563;FS=12.134;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=48.26;MQRankSum=-8.366;QD=8.24;ReadPosRankSum=-2.829;SOR=1.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,26:127:99:0|1:95929092_T_C:764,0,4096:95929092	0	0	10	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	16538.0	236	chr2	95929110	.	A	G	16538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=8.4;DP=1892;ExcessHet=22.563;FS=17.499;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=46.47;MQRankSum=-8.35;QD=8.75;ReadPosRankSum=-1.353;SOR=1.92	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,30:143:99:0|1:95929092_T_C:920,0,4655:95929092	0	0	10	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	23460.0	271	chr2	95929126	.	C	A	23460.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=4.32;DP=2223;ExcessHet=22.563;FS=26.443;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.92;MQRankSum=-9.139;QD=10.56;ReadPosRankSum=-1.058;SOR=2.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,35:167:99:0|1:95929092_T_C:1072,0,5437:95929092	0	0	10	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	24873.0	281	chr2	95929130	.	G	C	24873.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.79;DP=2277;ExcessHet=22.563;FS=24.162;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=44.53;MQRankSum=-8.928;QD=10.93;ReadPosRankSum=-1.036;SOR=2.173	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,38:171:99:0|1:95929092_T_C:1195,0,5470:95929092	0	0	10	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	26298.0	285	chr2	95929135	.	C	T	26298.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=6.09;DP=2381;ExcessHet=22.563;FS=26.117;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=43.98;MQRankSum=-8.81;QD=11.3;ReadPosRankSum=-1.019;SOR=2.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,41:175:99:0|1:95929092_T_C:1313,0,5503:95929092	0	0	10	0
chr2	95951362	95951362	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon15:c.G1250A:p.R417Q	.	501	1015	6	0	0	6	0.00294695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00110601870664	.	.	0.0004	0.0005	0.0032	0	0	0.0001	0	0.0006	5.17e-05	8	154602	rs764520854	0.0004	0.0004	0.0003	0.0004	0.0100	0.0004	0.0003	0.0079	0.0072	0.0002	5.642e-05	0	0	0	0.0100	0.0003	0.0007	0.0011	2.625e-05	0.0002	5.139e-05	0	2.941e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.404e-05	0	0	0	0	0	0.0035	2.941e-05	0	0	0.005	0.63226	D	0.358	0.17064	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.06	0.07882	N	0.063	0.03502	-0.9920	0.32089	T	0.019	0.07986	T	7	0.01371339	0.00290	T	0.001106	0.01312	T	0.022	0.04323	.	.	0.0611884634855	0.05136	0.028975358193557562	0.02846	.	.	.	.	.	5.88E-4	0.00238	T	-0.342391	0.05224	T	-0.729597	0.04346	T	0.0212221018957338	0.00824	T	0.361564	0.08348	T	0.03911022	0.05340	0.052625135	0.08707	0.03911022	0.05340	0.052625135	0.08707	-0.925	0.00920	T	.	.	0.149	0.32898	B	.	.	0.720994	0.10903	7.572	0.75718196470351151	0.11184	0.00003	0.00079	N	AEFGI	0.011839	0.00114	N	-1.21164332267425	0.04830	0.2188168	-1.36370086725924	0.03647	0.170554	4.81969164375533E-5	0.03989	0.581397	0.33459	0	0.78372	0.99691	0	0.463624	0.06942	0	0.636168	0.56350	0	.	.	1.45	-1.23	0.08977	0.405000	0.20738	0.494000	0.18929	-0.250000	0.07158	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.0:0.4321:0.0:0.5679	4.336	0.10527	265	0.89590	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	363.43	382	chr2	95951362	.	C	T	363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.119;DP=2707;ExcessHet=0;FS=0.712;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.46;MQRankSum=4.43;QD=1.86;ReadPosRankSum=-0.757;SOR=0.824	GT:AD:DP:GQ:PL	0/1:162,33:195:99:375,0,5746	9	0	1	0
chr2	96864738	96864738	T	G	exonic	SEMA4C	.	nonsynonymous SNV	SEMA4C:NM_017789:exon9:c.A929C:p.N310T	.	0	1520	2	0	0	2	0.000657462	.	.	.	2762550	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.00767349279622	0.0002	.	0.0002	0.0005	0	0.0001	0	0.0002	0	0	0.0001488	23	154602	rs372109047	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0	0	5.043e-05	0	0.0003	0.0002	8.291e-05	5.8e-05	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0	0	0.0003	0	0	0	0.0001	0	0.0002	0.551	0.06564	T	0.511	0.10785	T	0.026	0.19406	B	0.065	0.27321	B	0.000646	0.42656	D	0.276538	0.613601	0.32643	D	1.66	0.42513	L	1.49	0.31470	T	-1.04	0.27259	N	0.316	0.35620	-1.0003	0.29831	T	0.054	0.22731	T	10	0.06586525	0.08949	T	0.007673	0.20352	T	0.057	0.16321	.	.	0.279809986126	0.27602	0.44951542897061547	0.44869	1.41684164526	0.85530	0.406821936369	0.26018	T	0.092532	0.39024	T	-0.513598	0.00479	T	-0.606775	0.12248	T	0.0341659188163968	0.02665	T	0.628837	0.24395	T	0.13705213	0.31748	0.062833816	0.12354	0.13705213	0.31748	0.062833816	0.12354	-7.811	0.59775	D	.	.	0.145	0.31980	B	.	.	2.160260	0.27519	17.49	0.96616182633566217	0.30463	0.85340	0.44463	D	AEFDBHCI	0.362258	0.45158	N	-0.18217442500794	0.33878	1.927048	0.0341075819472175	0.41311	2.479736	0.999944110554295	0.47345	0.631515	0.41029	0	0.552637	0.17590	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.97	5.97	0.96935	0.839000	0.27239	5.066000	0.47133	0.665000	0.62972	0.535000	0.27228	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.1507:0.8493	11.434	0.49301	115	0.95340	Sema domain|Sema domain|Sema 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	.	.	.	.	.	.	.	.	0.05	1954.43	35	chr2	96864738	.	T	G	1954.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.333;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.63;ReadPosRankSum=-0.295;SOR=0.684	GT:AD:DP:GQ:PL	0/1:80,88:168:99:1966,0,1863	9	0	1	0
chr2	97124575	97124575	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon5:c.G709A:p.A237T	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.00693479316205	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs746044379	2.785e-05	2.873e-05	2.678e-05	2.895e-05	0.0005	2.085e-05	1.831e-05	0.0001	7.631e-05	0	0	0	0	0	0.0005	2.965e-05	0	5.051e-05	6.582e-06	6.569e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.005	0.74150	D	0.98	0.59353	D	0.892	0.63276	P	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	-0.8	0.73845	T	-0.69	0.19720	N	0.527	0.60833	-0.7120	0.59854	T	0.340	0.70608	T	9	0.47427323	0.60049	T	0.006935	0.18345	T	0.475	0.76751	0.673	0.81101	0.658879190379	0.65602	.	.	.	.	0.648425459862	0.59763	T	0.079876	0.36232	T	-0.0219678	0.48573	T	-0.141553	0.59983	T	0.279828921114204	0.24164	T	0.570043	0.20293	T	0.08050545	0.18450	0.12857829	0.30932	0.08050545	0.18450	0.12857829	0.30932	-9.09	0.68273	D	.	.	0.722	0.74443	P	.;.;.;.	.;.;.;.	2.434684	0.31330	18.71	0.99131015615331541	0.53249	0.47882	0.28082	N	AEFDI	0.047449	0.07990	N	-0.207580103253809	0.32823	1.855376	-0.396586281654718	0.25098	1.378269	2.2244186585466E-5	0.03498	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	0.946	0.946	0.18674	1.789000	0.38356	0.402000	0.18011	0.323000	0.19410	0.788000	0.29570	0.000000	0.08366	0.009000	0.08673	0.0:0.0:1.0:0.0	5.213	0.14649	224	0.91330	Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain;Ankyrin repeat-containing 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	.	.	.	.	.	.	.	.	0.05	657.43	33	chr2	97124575	.	G	A	657.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.532;DP=376;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=-1.044;SOR=0.614	GT:AD:DP:GQ:PL	0/1:38,32:70:99:669,0,859	9	0	1	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	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	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5	22311.0	211	chr2	97513220	.	G	A	22311.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.053;DP=1505;ExcessHet=22.563;FS=2.574;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.14;MQRankSum=-3.622;QD=14.84;ReadPosRankSum=0.342;SOR=0.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,28:106:99:0|1:97513219_T_C:941,0,3191:97513219	0	0	10	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	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	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5	23638.0	227	chr2	97513227	.	T	C	23638.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.435;DP=1607;ExcessHet=22.563;FS=2.554;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.25;MQRankSum=-3.798;QD=14.94;ReadPosRankSum=0.612;SOR=0.875	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,29:110:99:0|1:97513219_T_C:965,0,3287:97513219	0	0	10	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	29141.0	257	chr2	97513244	.	G	T	29141.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.874;DP=1818;ExcessHet=22.563;FS=1.121;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.81;MQRankSum=-4.032;QD=16.06;ReadPosRankSum=0.265;SOR=0.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,36:126:99:0|1:97513244_G_T:1241,0,3630:97513244	0	0	10	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	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	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5	31529.0	274	chr2	97513253	.	A	G	31529.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.011;DP=1915;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.66;ReadPosRankSum=-0.44;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,41:131:99:0|1:97513244_G_T:1451,0,3635:97513244	0	0	10	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	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	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5	31538.0	273	chr2	97513254	.	C	T	31538.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.403;DP=1919;ExcessHet=22.563;FS=2.477;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=37.97;MQRankSum=-4.256;QD=16.69;ReadPosRankSum=-0.7;SOR=0.895	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,41:130:99:0|1:97513244_G_T:1454,0,3614:97513244	0	0	10	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	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	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5	34648.0	295	chr2	97513268	.	C	T	34648.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.562;DP=2031;ExcessHet=22.563;FS=1.756;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.45;MQRankSum=-4.865;QD=17.14;ReadPosRankSum=-0.434;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,47:143:99:0|1:97513268_C_T:1685,0,3890:97513268	0	0	10	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	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	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5	32483.0	301	chr2	97513270	.	A	C	32483.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.141;DP=2044;ExcessHet=22.563;FS=1.745;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.51;MQRankSum=-4.865;QD=15.9;ReadPosRankSum=-0.382;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,48:144:99:0|1:97513268_C_T:1706,0,3887:97513268	0	0	10	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	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	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5	34968.0	304	chr2	97513271	.	T	C	34968.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.323;DP=2052;ExcessHet=22.563;FS=1.108;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.54;MQRankSum=-4.877;QD=17.04;ReadPosRankSum=-0.39;SOR=0.833	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,48:144:99:0|1:97513268_C_T:1706,0,3887:97513268	0	0	10	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	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	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5	34754.0	295	chr2	97513281	.	C	T	34754.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.105;DP=2075;ExcessHet=22.563;FS=1.744;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=38.89;MQRankSum=-5.07;QD=16.85;ReadPosRankSum=-0.404;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,49:147:99:0|1:97513268_C_T:1707,0,3927:97513268	0	0	10	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	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	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	8228.04	185	chr2	97513354	.	T	C	8228.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.32;DP=1254;ExcessHet=22.563;FS=1.23;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=40.12;MQRankSum=-3.558;QD=6.78;ReadPosRankSum=0.474;SOR=0.601	GT:AD:DP:GQ:PL	0/1:57,24:81:99:405,0,1421	0	0	10	0
chr2	102424247	102424247	G	C	exonic	IL18RAP	.	nonsynonymous SNV	IL18RAP:NM_003853:exon5:c.G412C:p.A138P	.	423	1085	14	0	0	14	0.00641026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00582359363422	7.7e-05	0.000199681	0.0005	0	0	0.0001	0	0.0002	0.0022	0.0025	0.000401	62	154602	rs371252714	0.0003	0.0003	0.0002	0.0003	0.0029	0.0003	0.0002	0.0019	0.0017	2.988e-05	6.71e-05	3.827e-05	2.519e-05	0.0003	0.0029	0.0001	0.0005	0.0020	0.0002	0.0002	0.0001	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0007	0	0	0.0005	0.0034	0.0002	0.0005	0.0017	0.089	0.32141	T	0.024	0.56640	D	0.991	0.64070	D	0.497	0.47562	P	0.066769	0.21787	N	0.469184	0.899643	0.81001	D	1.935	0.51832	L	1.94	0.22678	T	-1.23	0.31170	N	0.217	0.24260	-1.1248	0.02048	T	0.051	0.21611	T	10	0.018843085	0.00414	T	0.005824	0.15131	T	0.149	0.39377	.	.	0.358340041657	0.35441	0.7494906714048574	0.74896	0.234766016754	0.26012	0.330877006054	0.15066	T	0.174333	0.52352	T	-0.318482	0.07023	T	-0.236112	0.51177	T	0.0424534895874679	0.04137	T	0.740726	0.35986	T	0.55958563	0.70487	0.32661998	0.58568	0.55958563	0.70488	0.32661998	0.58567	-2.807	0.08248	T	.	.	0.118	0.24020	B	.	.	2.011024	0.25550	16.80	0.9964930214295068	0.77192	0.24945	0.22549	N	AEFBI	0.284448	0.39731	N	0.0651791037750651	0.44843	2.751108	0.0222899486912045	0.40753	2.437121	0.999940585443771	0.47345	0.559995	0.30671	0	0.624146	0.53433	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	3.36	0.37579	0.538000	0.22869	0.642000	0.20329	0.676000	0.76740	0.001000	0.13787	0.000000	0.08366	0.581000	0.30918	0.1951:0.0:0.8049:0.0	7.043	0.24210	521	0.74284	.	.	.	.	.	.	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	0.005181	0.000000	0.000000	0.000000	0.000000	0.000000	0.024390	0.007576	0.05	830.43	39	chr2	102424247	.	G	C	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.485;DP=481;ExcessHet=0;FS=1.689;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.39;ReadPosRankSum=0.872;SOR=0.585	GT:AD:DP:GQ:PL	0/1:62,37:99:99:842,0,1545	9	0	1	0
chr2	106413119	106413119	A	G	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon22:c.T5231C:p.L1744P	.	574	909	32	7	0	46	0.0246781	.	.	.	2348696	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.151	0.00426816041692	.	.	.	.	.	.	.	.	.	.	0.0084524	220	26028	rs1200568186	0.0025	0.0050	0.0020	0.0030	0.0187	0.0024	0.0024	0.0153	0.0143	0.0009	0.0024	0.0082	0.0134	0.0008	0.0187	0.0010	0.0033	0.0153	0.0026	0.0052	0.0025	0.0027	0.0136	0.0024	0.0023	0.0108	0.0099	0.0010	0.0022	0.0019	0.0089	0.0122	9.475e-05	0.0326	0.0023	0.0044	0.0136	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996073	0.43003	D	-2.725	0.00030	N	1.55	0.29866	T	1.13	0.01182	N	0.329	0.36989	-0.9554	0.40024	T	0.010	0.03811	T	9	0.0046307743	0.00097	T	0.004268	0.10341	T	0.151	0.39764	0.437	0.48993	0.0716867268079	0.06686	0.14579829350993453	0.14502	.	.	0.737386345863	0.72588	T	0.003952	0.03363	T	-0.573631	0.00211	T	-0.587363	0.13895	T	0.0109880224044707	0.00158	T	0.217878	0.02755	T	0.09037789	0.21146	0.12882335	0.30987	0.09037789	0.21146	0.12882335	0.30986	-1.181	0.01224	T	.	.	0.067	0.12655	B	.;.	.;.	2.755214	0.36121	20.2	0.058904364898830178	0.00016	0.01272	0.04451	N	AEFI	0.034858	0.04391	N	-1.52334207294121	0.01697	0.07427024	-1.31612094021418	0.04221	0.1986636	3.28424657957892E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.12	1.12	0.19700	5.667000	0.67736	9.785000	0.81617	-0.720000	0.03816	1.000000	0.71638	1.000000	0.68203	0.900000	0.43643	0.2062:0.0:0.7938:0.0	5.721	0.17255	915	0.20917	GRIP domain|GRIP domain|GRIP domain;GRIP domain|GRIP domain|GRIP 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	1	0	.	.	.	.	.	.	.	.	0.15	130.48	34	chr2	106413119	.	A	G	130.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.55;DP=388;ExcessHet=0.7463;FS=27.782;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=49.23;MQRankSum=-3.883;QD=0.98;ReadPosRankSum=-1.757;SOR=4.531	GT:AD:DP:GQ:PL	0/1:26,3:29:11:11,0,682	7	0	3	0
chr2	106423154	106423154	A	T	exonic	RGPD3	.	nonsynonymous SNV	RGPD3:NM_001144013:exon20:c.T4813A:p.S1605T	.	190	1312	20	0	0	20	0.0075643	.	.	.	3905916	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.00589258222691	.	.	0.0009	0	0.0018	0	0	0.0004	0	0.0044	0.0001537	4	26028	rs749360598	0.0003	0.0003	0.0002	0.0003	0.0075	0.0003	0.0003	0.0054	0.0046	3.249e-05	0.0005	4.061e-05	0	0	0.0075	0.0002	0.0007	0.0015	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0006	0.0005	4.817e-05	0	0.0010	0.0003	0	0	0.0034	0.0003	0.0005	0.0008	0.067	0.35918	T	0.493	0.11443	T	0.255	0.31319	B	0.071	0.27960	B	.	.	.	.	1	0.08975	N	2.19	0.61577	M	1.06	0.39781	T	-0.79	0.21860	N	0.072	0.06854	-1.0361	0.18513	T	0.072	0.29259	T	9	0.005458027	0.00120	T	0.005893	0.15340	T	0.020	0.03691	0.192	0.10304	0.0401082797425	0.02173	0.016020422774613914	0.01558	.	.	0.35924872756	0.19275	T	0.005	0.04008	T	-0.614732	0.00119	T	-0.662581	0.08092	T	0.0191502718973929	0.00622	T	0.715028	0.32735	T	0.07294533	0.16266	0.07093204	0.15130	0.07294533	0.16265	0.07093204	0.15130	-3.988	0.23624	T	.	.	0.087	0.11027	B	.;.	.;.	1.866847	0.23715	16.12	0.74456182879405952	0.10702	0.06372	0.12373	N	AEFI	0.129531	0.24775	N	-0.910128125425237	0.10604	0.5075387	-1.02662557778789	0.09201	0.456475	0.374379395006213	0.19900	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	2.35	-0.0577	0.13131	1.506000	0.35354	3.607000	0.39241	0.347000	0.19874	0.032000	0.20554	0.985000	0.30750	0.524000	0.29567	0.4333:0.0:0.5667:0.0	5.220	0.14685	908	0.22609	.;.	.	.	.	.	.	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	0.006748	0.010638	0.004213	0.006250	0.000000	0.018182	0.012931	0.000000	0.05	263.43	34	chr2	106423154	.	A	T	263.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.572;DP=364;ExcessHet=0;FS=8.84;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=25.89;MQRankSum=1.14;QD=6.75;ReadPosRankSum=-1.431;SOR=0.093	GT:AD:DP:GQ:PL	0/1:26,13:39:99:275,0,645	9	0	1	0
chr2	108655195	108655195	C	G	exonic	LIMS1	.	nonsynonymous SNV	LIMS1:NM_001193485:exon1:c.C121G:p.L41V,LIMS1:NM_001371494:exon1:c.C121G:p.L41V,LIMS1:NM_001371499:exon1:c.C121G:p.L41V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00520010491285	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.711e-07	6.857e-07	0	1.536e-06	1.035e-06	0	0	.	.	0	0	0	0	0	0	1.035e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.21678	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.81001	D	.	.	.	.	.	.	.	.	.	0.074	0.04790	-1.0217	0.23162	T	0.068	0.28013	T	9	0.10629144	0.19688	T	0.005	0.13248	T	.	.	0.678	0.81594	.	.	0.06072563491560959	0.06012	.	.	0.489895403385	0.37424	T	0.014918	0.12608	T	-0.260383	0.12856	T	-0.611798	0.11840	T	0.0665508508682251	0.08158	T	0.827017	0.49290	T	.	.	.	.	.	.	.	.	-4.169	0.26301	T	.	.	0.076	0.10497	B	.;.	.;.	1.893796	0.24054	16.25	0.98125503779176249	0.38473	0.34671	0.25122	N	AEFBI	0.203030	0.32958	N	-0.441645630469137	0.24024	1.294318	-0.310052374792321	0.27773	1.543503	0.997758707456844	0.35989	0.706298	0.61202	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.44	2.65	0.30588	0.811000	0.26855	0.375000	0.17719	0.593000	0.32247	0.509000	0.27025	0.326000	0.24349	0.985000	0.61073	0.0:0.6334:0.0:0.3666	8.181	0.30471	872	0.31118	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	107.51	11	chr2	108655195	.	C	G	107.51	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.881;DP=108;ExcessHet=0;FS=0;InbreedingCoeff=-0.0594;MLEAC=1;MLEAF=0.05;MQ=25;MQRankSum=0;QD=10.75;ReadPosRankSum=-0.298;SOR=0.693	GT:AD:DP:GQ:PL	0/1:5,5:10:99:119,0,119	9	0	1	0
chr2	111784384	111784384	T	G	exonic	ANAPC1	.	nonsynonymous SNV	ANAPC1:NM_022662:exon41:c.A4934C:p.E1645A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.00528458422739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.35537	T	0.178	0.29639	T	0.0	0.02946	B	0.0	0.01387	B	0.000123	0.49741	D	0.000000	0.999326	0.46670	D	0.58	0.15352	N	.	.	.	-1.78	0.42001	N	0.307	0.34659	-1.0355	0.18700	T	0.101	0.37443	T	9	0.14447856	0.27418	T	0.005285	0.13494	T	0.117	0.32689	0.342	0.33464	0.274366138417	0.27033	0.3868758130590885	0.38602	.	.	0.357072234154	0.18958	T	0.022777	0.17502	T	-0.111415	0.34536	T	-0.397817	0.33638	T	0.768936812877655	0.44375	D	0.829317	0.49436	T	0.10128438	0.23923	0.046160504	0.06374	0.10128438	0.23922	0.046160504	0.06373	-8.195	0.62392	D	.	.	0.108	0.20469	B	.	.	3.310933	0.45497	22.1	0.97760505643159235	0.35801	0.92764	0.56488	D	AEFGI	0.556727	0.56665	D	0.10886929184725	0.46877	2.921393	0.205214449940917	0.50137	3.208879	0.0102272415982654	0.11988	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.63	4.63	0.57175	4.154000	0.57902	7.939000	0.75402	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0812:0.1508:0.768	6.975	0.23850	892	0.26670	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	818.43	39	chr2	111784384	.	T	G	818.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.09;DP=457;ExcessHet=0;FS=1.675;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=41.17;MQRankSum=-2.971;QD=8.71;ReadPosRankSum=0.2;SOR=0.876	GT:AD:DP:GQ:PL	0/1:55,39:94:99:830,0,1253	9	0	1	0
chr2	127419848	127419848	C	T	exonic	PROC	.	nonsynonymous SNV	PROC:NM_001375602:exon2:c.C89T:p.S30F	Thrombophilia due to protein C deficiency, autosomal dominant, Autosomal dominant;Thrombophilia due to protein C deficiency, autosomal recessive, Autosomal recessive	3	1504	15	0	0	15	0.00496196	.	.	.	4008078	Thrombophilia_due_to_protein_C_deficiency,_autosomal_recessive|Thrombophilia_due_to_protein_C_deficiency,_autosomal_dominant	MONDO:MONDO:0012860,MedGen:C2676759,OMIM:612304,Orphanet:745|MONDO:MONDO:0008316,MedGen:C2674321,OMIM:176860,Orphanet:745	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0006986	108	154602	rs61731661	0.0039	0.0039	0.0039	0.0039	0.0093	0.0038	0.0037	0.0073	0.0066	0.0005	0.0057	0.0048	2.539e-05	0.0094	0.0093	0.0039	0.0042	0.0007	0.0036	0.0036	0.0034	0.0038	0.0052	0.0034	0.0033	0.0047	0.0045	0.0006	0	0.0037	0.0055	0	0.0080	0.0034	0.0052	0.0047	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	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	1	0	.	.	.	.	.	.	.	.	0.05	358.43	21	chr2	127419848	.	C	T	358.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.857;DP=200;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.29;ReadPosRankSum=0.568;SOR=0.724	GT:AD:DP:GQ:PL	0/1:9,13:22:99:370,0,238	9	0	1	0
chr2	127650976	127650976	G	A	exonic	GPR17	.	nonsynonymous SNV	GPR17:NM_001161417:exon2:c.G241A:p.V81M,GPR17:NM_001161416:exon3:c.G241A:p.V81M,GPR17:NM_005291:exon3:c.G325A:p.V109M,GPR17:NM_001161415:exon4:c.G325A:p.V109M	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.240	0.0248828984778	0.0022	0.00139776	0.0033	0.0004	0.0022	0.0003	0.0051	0.0048	0.0011	0.0008	0.0030724	475	154602	rs141840938	0.0030	0.0030	0.0029	0.0031	0.0107	0.0029	0.0029	0.0086	0.0078	0.0004	0.0032	0.0024	0.0002	0.0041	0.0107	0.0032	0.0035	0.0009	0.0030	0.0030	0.0028	0.0031	0.0048	0.0027	0.0027	0.0044	0.0042	0.0005	0	0.0024	0.0023	0.0002	0.0040	0	0.0048	0.0047	0.0019	0.002	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	0.999992	0.81001	D	2.23	0.63091	M	1.68	0.37910	T	-2.36	0.52128	N	0.81	0.84817	-0.8742	0.50211	T	0.144	0.46678	T	10	0.010150522	0.00227	T	0.024883	0.47865	T	0.240	0.54500	.	.	0.293147016451	0.28931	0.48895216005974207	0.48815	0.89472933441	0.70406	0.683530986309	0.64776	T	0.344366	0.71289	T	-0.291134	0.09524	T	-0.186685	0.55901	T	0.0165033362219932	0.00414	T	0.929907	0.82243	D	0.7208412	0.79208	0.7234727	0.83669	0.7208412	0.79210	0.7234727	0.83670	-8.027	0.61254	D	.	.	0.490	0.64127	A	.;.;.;.	.;.;.;.	5.002437	0.83007	27.9	0.99887754434430742	0.96281	0.93537	0.58487	D	AEFDBCI	0.911978	0.87199	D	0.779525875054717	0.84809	8.39273	0.766797955880007	0.87404	9.211103	0.99999999847222	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.608075	0.38828	0	0.604944	0.38103	0	.	.	5.47	5.47	0.80345	7.976000	0.87674	11.902000	0.99384	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.899000	0.43558	0.0:0.143:0.857:0.0	14.890	0.70244	946	0.12043	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.002717	0.000000	0.000000	0.008621	0.003049	0.000000	0.05	2714.43	35	chr2	127650976	.	G	A	2714.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.056;DP=542;ExcessHet=0;FS=3.021;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.599;SOR=0.899	GT:AD:DP:GQ:PL	0/1:103,114:217:99:2726,0,2333	9	0	1	0
chr2	130074900	130074900	C	T	exonic	POTEF	.	nonsynonymous SNV	POTEF:NM_001099771:exon17:c.G2572A:p.G858R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.307	0.00173090668559	.	0.000199681	0.0001	0	0	0	0.0002	0.0002	0	0.0001	0.0001164	18	154602	rs201025840	6.177e-05	7.185e-05	4.917e-05	7.45e-05	0.0002	5.112e-05	4.731e-05	0.0002	0.0001	0	0	0	5.043e-05	0.0002	0	4.421e-05	9.968e-05	0.0002	4.397e-05	4.633e-05	5.691e-05	3.023e-05	6.327e-05	1.878e-05	1.236e-05	2.076e-05	1.294e-05	0	0	0	0	0	0.0002	0	6.327e-05	0	0	0.0	0.91255	D	0.022	0.57587	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.881831	0.28035	N	3.51	0.92865	H	2.69	0.12268	T	-6.02	0.89684	D	0.416	0.45615	-0.9633	0.38547	T	0.131	0.44108	T	8	0.8343182	0.82589	D	0.001731	0.02908	T	0.307	0.62838	0.948	0.99368	0.267755039894	0.26402	0.2557204532884721	0.25486	.	.	0.614585757256	0.54964	T	0.589254	0.86668	D	-0.274424	0.11268	T	-0.352532	0.38913	T	0.408757925439322	0.29271	T	0.850515	0.53399	D	0.41058555	0.61458	0.36660424	0.61986	0.41058555	0.61458	0.36660424	0.61986	-10.24	0.75336	D	.	.	0.535	0.66142	A	.	.	2.083470	0.26501	17.14	0.99538125202607164	0.70336	0.50101	0.28585	D	AEFI	0.252309	0.37202	N	0.102180736722081	0.46565	2.894882	-0.259964884225403	0.29429	1.64872	9.32829367166945E-4	0.08027	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	5.533000	0.66873	.	.	0.171000	0.17763	1.000000	0.71638	0.003000	0.18671	0.133000	0.19684	0.0:0.9992:0.0:8.0E-4	5.905	0.18235	982	0.03397	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	931.43	118	chr2	130074900	.	C	T	931.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=6.62;DP=1050;ExcessHet=0;FS=41.007;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.84;MQRankSum=-7.644;QD=5.93;ReadPosRankSum=-2.054;SOR=3.556	GT:AD:DP:GQ:PL	0/1:119,38:157:99:943,0,3177	9	0	1	0
chr2	134254543	134254543	G	A	exonic	MGAT5	.	nonsynonymous SNV	MGAT5:NM_002410:exon1:c.G140A:p.R47H,MGAT5:NM_001371457:exon2:c.G140A:p.R47H	.	433	1088	1	0	0	1	0.000459348	.	.	.	2359162	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.460	0.00696360132974	0.0003	.	0.0001	0.0008	8.699e-05	0.0004	0	0	0	6.07e-05	8.41e-05	13	154602	rs141403771	2.736e-05	2.736e-05	2.995e-05	2.475e-05	0.0004	2.062e-05	1.816e-05	0.0002	0.0002	0.0004	8.945e-05	0	5.038e-05	0	0	4.496e-06	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0001	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.008	0.67890	D	0.871	0.47859	P	0.276	0.40142	B	0.000011	0.62929	D	0.111000	0.999834	0.49637	D	1.75	0.45442	L	.	.	.	-1.7	0.40468	N	0.21	0.23380	-0.6058	0.64577	T	0.196	0.54985	T	9	0.13885185	0.26405	T	0.006964	0.18430	T	0.460	0.75755	.	.	0.117191471859	0.11215	0.7107250579092655	0.71014	0.72895118267	0.62636	0.573354482651	0.49151	T	0.494739	0.81776	T	-0.233563	0.16181	T	-0.21579	0.53141	T	0.126232311655328	0.15029	T	0.910809	0.68393	D	0.19557323	0.41351	0.21822406	0.46517	0.19557323	0.41351	0.21822406	0.46516	-5.995	0.46238	T	.	.	0.307	0.53625	B	.;.	.;.	5.159086	0.86435	28.9	0.99944912057795821	0.99886	0.85906	0.45094	D	AEFBCI	0.554698	0.56543	D	0.490328444690513	0.66524	4.961261	0.533009677480155	0.70224	5.473889	0.999999993113198	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.88	4.88	0.63131	6.901000	0.75513	11.893000	0.99147	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.568	0.91077	912	0.21483	Domain of unknown function DUF4525;Domain of unknown function DUF4525	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	5845.14	34	chr2	134254543	.	G	A	5845.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.91;DP=802;ExcessHet=0.2348;FS=3.194;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-0.587;SOR=0.792	GT:AD:DP:GQ:PL	0/1:137,119:256:99:2863,0,3120	8	0	2	0
chr2	142957713	142957713	G	A	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon7:c.G580A:p.E194K,KYNU:NM_003937:exon7:c.G580A:p.E194K,KYNU:NM_001199241:exon8:c.G580A:p.E194K	.	427	1094	1	0	0	1	0.00045683	0.1495	0.23	.	3455983	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.189	0.0216654390971	.	.	0.0001	0	0	0	0	0	0	0.0008	8.41e-05	13	154602	rs375714486	5.272e-05	5.544e-05	3.369e-05	7.181e-05	0.0008	4.307e-05	3.929e-05	0.0007	0.0006	0	0	0	0	0	0.0002	0	6.781e-05	0.0008	1.972e-05	1.97e-05	0	4.035e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.121	0.27783	T	0.352	0.23164	T	0.002	0.09854	B	0.023	0.19966	B	0.004896	0.33292	N	0.290052	0.99572	0.42826	D	0.66	0.16226	N	-2.16	0.86549	D	-0.93	0.29727	N	0.234	0.26475	-0.4674	0.69816	T	0.414	0.76170	T	10	0.091902435	0.16139	T	0.021665	0.44469	T	0.189	0.46613	0.437	0.48993	0.870298681331	0.86903	0.6432807418445249	0.64263	0.039138884069	0.04164	0.387368679047	0.23299	T	0.361846	0.72786	T	-0.303887	0.08298	T	-0.291073	0.45662	T	0.0517077828878968	0.05798	T	0.963804	0.86607	D	0.17753938	0.38725	0.1876245	0.42006	0.17753938	0.38725	0.1876245	0.42005	-7.014	0.54136	T	0.15384262994865694	0.18330	0.078	0.10062	B	.;.;.;.	.;.;.;.	2.500402	0.32279	18.99	0.99538330840768785	0.70336	0.85050	0.44152	D	AEFGBI	0.484277	0.52436	N	-0.149638791470159	0.35250	2.022338	0.0347988856841131	0.41342	2.48225	0.829036885601217	0.24659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.24	4.33	0.51083	1.531000	0.35624	1.144000	0.24428	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1433:0.2738:0.5829:0.0	6.994	0.23949	918	0.19598	Aminotransferase class V domain;.;Aminotransferase class V 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	.	.	.	.	.	.	.	.	0.05	715.43	36	chr2	142957713	.	G	A	715.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.906;DP=398;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.29;ReadPosRankSum=-0.368;SOR=0.763	GT:AD:DP:GQ:PL	0/1:41,36:77:99:727,0,908	9	0	1	0
chr2	152549066	152549066	C	G	exonic	FMNL2	.	nonsynonymous SNV	FMNL2:NM_052905:exon4:c.C328G:p.L110V	.	435	1064	21	2	0	25	0.0116117	.	.	.	707771	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.847	0.0943620572758	0.0015	0.00139776	0.0021	0.0006	0.0011	0	0.0027	0.0028	0	0.0012	0.0016882	261	154602	rs189416564	0.0017	0.0017	0.0016	0.0017	0.0030	0.0016	0.0016	0.0019	0.0017	0.0002	0.0007	0.0001	0	0.0024	0.0030	0.0018	0.0014	0.0017	0.0016	0.0016	0.0018	0.0014	0.0025	0.0014	0.0014	0.0022	0.0021	0.0004	0	0.0017	0.0003	0	0.0015	0	0.0025	0.0024	0.0012	0.002	0.72154	D	0.003	0.76473	D	0.974	0.57829	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.545	0.93219	H	-3.86	0.95891	D	-2.29	0.50992	N	0.749	0.74826	0.897	0.95634	D	0.922	0.97419	D	10	0.06383386	0.08377	T	0.094362	0.76238	D	0.847	0.95249	.	.	0.894785773462	0.89374	0.6470445445867951	0.64639	0.939401441635	0.72160	0.800921201706	0.82103	T	.	.	.	0.158796	0.70090	D	0.451959	0.93625	D	0.113035874637148	0.13735	T	0.995467	0.98429	D	.	.	.	.	.	.	.	.	-8.341	0.63371	D	.	.	0.567	0.67513	P	.	.	4.217291	0.63767	24.6	0.99862500244582941	0.94093	0.97341	0.74138	D	AEFDGBIJ	0.630492	0.61182	D	0.91462230342868	0.92457	11.43442	0.873322540739809	0.94303	12.65601	1.0	0.98316	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.86	5.86	0.93936	4.487000	0.60022	5.884000	0.50679	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.158	0.98126	262	0.89730	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002520	0.005051	0.002717	0.000000	0.000000	0.000000	0.009146	0.003788	0.1	911.14	34	chr2	152549066	.	C	G	911.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.234;DP=397;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=1.65;SOR=0.756	GT:AD:DP:GQ:PL	0/1:32,22:54:99:455,0,730	8	0	2	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3889	547.15	205	chr2	157321525	.	C	G	547.15	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-3.715;DP=1784;ExcessHet=7.0302;FS=288.634;InbreedingCoeff=-0.5861;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=1.55;SOR=12.262	GT:AD:DP:GQ:PL	0/1:88,36:124:9:9,0,1586	2	0	7	1
chr2	166903764	166903764	A	T	exonic	XIRP2	.	nonsynonymous SNV	XIRP2:NM_001079810:exon2:c.A282T:p.E94D,XIRP2:NM_001199143:exon2:c.A282T:p.E94D,XIRP2:NM_152381:exon2:c.A282T:p.E94D	.	432	1085	4	1	0	6	0.00275735	.	.	.	2368840	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.131	0.0744000515216	0.0002	.	9.134e-05	0	0	0	0	0.0002	0	6.057e-05	7.12e-05	11	154602	rs199731929	5.063e-05	5.062e-05	4.493e-05	5.639e-05	0.0005	4.126e-05	3.779e-05	0.0001	7.544e-05	5.977e-05	0	0	0	0	0.0005	5.846e-05	4.969e-05	1.159e-05	5.262e-05	5.255e-05	6.429e-05	4.04e-05	8.827e-05	2.559e-05	1.832e-05	3.764e-05	2.577e-05	0	0	0	0	0	0	0	8.827e-05	0.0010	0	0.164	0.38407	T	0.195	0.28032	T	0.93	0.51791	P	0.561	0.49582	P	.	.	.	.	0.999106	0.21709	N	.	.	.	-1.63	0.82533	D	-1.5	0.36586	N	0.244	0.30574	-0.4724	0.69641	T	0.484	0.80306	T	8	0.14415249	0.27359	T	0.074	0.72032	D	0.131	0.35738	0.146	0.04941	0.219573609325	0.21563	0.00882840362890995	0.00846	0.0196242383093	0.01924	0.337409675121	0.16050	T	.	.	.	-0.238119	0.15590	T	-0.331509	0.41302	T	0.0589416987357846	0.07000	T	0.60284	0.22604	T	.	.	.	.	.	.	.	.	-4.258	0.27584	T	.	.	0.155	0.34492	B	.;.;.	.;.;.	1.434047	0.18528	13.78	0.97089765942068829	0.32319	0.63299	0.32046	D	AEFI	0.093815	0.18978	N	0.0329906951105039	0.43360	2.63051	-0.0210481609658145	0.38766	2.288657	2.73315686145173E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.12	3.95	0.44952	0.655000	0.24618	0.025000	0.13648	0.756000	0.94297	1.000000	0.71638	0.021000	0.20819	0.117000	0.19042	0.902:0.0:0.098:0.0	7.627	0.27387	272	0.89337	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1933.43	38	chr2	166903764	.	A	T	1933.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.697;DP=541;ExcessHet=0;FS=1.105;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=-0.743;SOR=0.609	GT:AD:DP:GQ:PL	0/1:111,86:197:99:1945,0,2942	9	0	1	0
chr2	169095663	169095663	G	C	exonic	DHRS9	.	nonsynonymous SNV	DHRS9:NM_001142271:exon5:c.G856C:p.D286H,DHRS9:NM_001289763:exon5:c.G1036C:p.D346H,DHRS9:NM_001376924:exon5:c.G856C:p.D286H,DHRS9:NM_001142270:exon6:c.G856C:p.D286H,DHRS9:NM_199204:exon6:c.G856C:p.D286H	.	430	1061	31	0	0	31	0.0143985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.795	0.0754832447197	0.0041	0.00159744	0.0038	0.0005	0.0026	0	0.0047	0.0055	0.0066	0.0016	0.0039003	603	154602	rs11695788	0.0046	0.0046	0.0046	0.0046	0.0165	0.0045	0.0045	0.0138	0.0128	0.0006	0.0030	0.0039	0	0.0048	0.0165	0.0051	0.0047	0.0021	0.0033	0.0033	0.0031	0.0035	0.0051	0.0031	0.0030	0.0047	0.0045	0.0007	0	0.0035	0.0040	0	0.0031	0.0034	0.0051	0.0047	0.0027	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.51	0.92865	H	-4.07	0.96562	D	-6.6	0.92561	D	0.701	0.80669	0.919	0.95949	D	0.940	0.98030	D	10	0.014248908	0.00300	T	0.075483	0.72299	D	0.795	0.93266	.	.	0.996999142816	0.99696	0.7790388770900196	0.77854	.	.	0.557162642479	0.46867	T	0.426319	0.77615	T	0.206615	0.74512	D	0.526208	0.95127	D	0.0506369703052366	0.05611	T	0.944706	0.80719	D	0.85138476	0.87438	0.7850274	0.87337	0.85138476	0.87440	0.7850274	0.87338	-9.816	0.72802	D	.	.	0.764	0.83439	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.110542	0.85434	28.6	0.99569901424726848	0.72318	0.92481	0.55812	D	ALL	0.787318	0.71713	D	0.998600906566439	0.95700	13.87712	0.946920636983953	0.97310	15.91854	1.0	0.98316	0.554377	0.28877	0	0.588066	0.40923	0	0.563428	0.18855	0	0.836244	0.99985	0	.	.	5.93	5.93	0.95888	6.098000	0.71106	11.857000	0.98226	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.936	0.97143	841	0.37094	.;.;.;.;.;.;.	.	.	.	.	.	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	0.007049	0.000000	0.008152	0.002924	0.000000	0.017241	0.012195	0.011364	0.05	935.43	34	chr2	169095663	.	G	C	935.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.434;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-1.006;SOR=0.646	GT:AD:DP:GQ:PL	0/1:40,41:81:99:947,0,957	9	0	1	0
chr2	172472890	172472890	G	A	exonic	ITGA6	.	nonsynonymous SNV	ITGA6:NM_001316306:exon5:c.G418A:p.G140S	Epidermolysis bullosa, junctional, with pyloric stenosis, Autosomal recessive	9	1496	17	0	0	17	0.00564972	0.9830	0.826	.	3217787	ITGA6-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.733	.	0.0024	0.013778	0.0105	0.0066	0.0101	0.0349	0	0.0005	0.0081	0.0433	0.0088744	1372	154602	rs74728869	0.0045	0.0044	0.0033	0.0056	0.0428	0.0044	0.0043	0.0417	0.0412	0.0073	0.0089	0.0054	0.0369	7.651e-05	0.0032	0.0001	0.0054	0.0428	0.0052	0.0052	0.0043	0.0062	0.0398	0.0049	0.0048	0.0352	0.0335	0.0074	0	0.0044	0.0058	0.0359	0	0.0034	0.0001	0.0052	0.0398	0.002	0.72154	D	0.011	0.64786	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	0.61	0.53516	T	-5.59	0.87760	D	0.817	0.91736	-0.5395	0.67182	T	0.159	0.49279	T	9	0.01030463	0.00230	T	0.148491	0.83040	D	0.733	0.90677	.	.	.	.	.	.	.	.	.	.	.	0.710074	0.91723	D	-0.0414729	0.45731	T	0.199067	0.83076	D	0.0785549693892789	0.09801	T	0.998091	0.99218	D	0.4176576	0.61936	0.44403628	0.67599	0.3356971	0.55934	0.44403628	0.67600	-12.317	0.86440	D	.	.	0.968	0.91905	P	.;.;.	.;.;.	3.455048	0.48129	22.6	0.99873236147270605	0.95076	0.99159	0.92098	D	AEFDBI	0.925838	0.90600	D	0.800498332863108	0.86136	8.789886	0.813540585513909	0.90720	10.53671	0.999999999999999	0.74766	0.562547	0.31514	0	0.610034	0.51514	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	9.247000	0.94616	11.853000	0.98135	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.762	0.96317	752	0.51611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.1	1703.14	36	chr2	172472890	.	G	A	1703.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.684;DP=399;ExcessHet=0.2348;FS=3.553;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.56;ReadPosRankSum=2.04;SOR=1.074	GT:AD:DP:GQ:PL	0/1:33,33:66:99:841,0,867	8	0	2	0
chr2	174877872	174877872	A	G	exonic	CHN1	.	nonsynonymous SNV	CHN1:NM_001371514:exon6:c.T568C:p.S190P,CHN1:NM_001822:exon6:c.T517C:p.S173P,CHN1:NM_001025201:exon7:c.T517C:p.S173P,CHN1:NM_001371513:exon7:c.T517C:p.S173P	Duane retraction syndrome 2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00971293752588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.737e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.18956	T	0.636	0.22223	T	0.0	0.02946	B	0.0	0.01387	B	0.001505	0.38793	N	0.293171	0.927389	0.28103	N	0.29	0.10111	N	-0.53	0.70833	T	0.02	0.06739	N	0.158	0.20660	-1.0073	0.27758	T	0.121	0.42144	T	10	0.06453401	0.08574	T	0.009713	0.25359	T	0.105	0.29889	0.13	0.03494	0.189391138174	0.18552	0.45990922740007306	0.45908	0.383010385503	0.39639	0.364439934492	0.20031	T	0.126808	0.45344	T	-0.166693	0.25735	T	-0.47722	0.24743	T	0.160416468977928	0.17902	T	0.59504	0.22051	T	0.059358742	0.12056	0.093377955	0.22053	0.059358742	0.12055	0.093377955	0.22052	-4.725	0.33705	T	0.13295950786831912	0.14224	0.067	0.06617	B	.;.	.;.	2.259678	0.28873	17.94	0.96358614089746109	0.29543	0.77860	0.38334	D	AEFDBHIJ	0.413340	0.48305	N	-0.602177408634255	0.18879	0.9836912	-0.367900267159008	0.25960	1.430927	0.999999985842153	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.82	3.51	0.39297	4.126000	0.57691	3.862000	0.40142	-0.208000	0.08445	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.733:0.1795:0.0875:0.0	7.125	0.24643	853	0.34956	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	87.43	37	chr2	174877872	.	A	G	87.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.924;DP=403;ExcessHet=0;FS=34.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=0.285;SOR=5.283	GT:AD:DP:GQ:PL	0/1:62,17:79:99:99,0,1326	9	0	1	0
chr2	178546480	178546480	A	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon170:c.T67656A:p.D22552E,TTN:NM_133432:exon171:c.T68031A:p.D22677E,TTN:NM_133437:exon171:c.T68232A:p.D22744E,TTN:NM_133378:exon291:c.T87147A:p.D29049E,TTN:NM_001256850:exon292:c.T89928A:p.D29976E,TTN:NM_001267550:exon342:c.T94851A:p.D31617E	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	2	1486	32	2	0	36	0.0119681	.	.	.	56709	Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Tibial_muscular_dystrophy|Dilated_cardiomyopathy_1G|not_specified|Cardiomyopathy|TTN-related_disorder|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiovascular_phenotype|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|not_provided	MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|.|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:CN230736|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.0386268382034	0.0026	0.00179712	0.0029	0.0007	0.0056	0	0	0.0038	0.0023	0.0014	0.0029236	452	154602	rs72648256	0.0029	0.0029	0.0029	0.0029	0.0217	0.0028	0.0028	0.0186	0.0175	0.0006	0.0058	0.0096	0	0.0003	0.0217	0.0028	0.0054	0.0010	0.0030	0.0030	0.0032	0.0028	0.0058	0.0027	0.0027	0.0048	0.0045	0.0007	0.0724	0.0058	0.0089	0	0.0005	0.0204	0.0030	0.0066	0.0019	0.077	0.53172	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	.	.	.	.	0.999917	0.52396	D	2.37	0.68279	M	-0.6	0.72889	T	-2.75	0.65397	D	0.344	0.63544	-0.0816	0.80518	T	0.475	0.79862	T	9	0.0069538355	0.00158	T	0.038627	0.58335	D	0.362	0.68230	0.414	0.45216	0.456738291233	0.45297	.	.	0.446550992324	0.44524	0.683138608932	0.64719	T	.	.	.	-0.355689	0.04380	T	-0.281365	0.46664	T	0.0569647524834986	0.06682	T	0.846715	0.53348	T	.	.	.	.	.	.	.	.	-5.637	0.43129	T	.	.	0.549	0.66730	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.244476	0.16405	12.52	0.9353988724361828	0.23366	0.94583	0.61639	D	AEFBI	0.621735	0.60632	D	0.621269056086818	0.74523	6.146958	0.589645623696016	0.74194	6.096106	0.999789397888448	0.43007	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	6.03	4.88	0.63131	4.287000	0.58794	.	.	0.756000	0.94297	1.000000	0.71638	0.996000	0.32793	0.993000	0.69303	0.8609:0.0:0.1391:0.0	9.145	0.36089	484	0.77165	.;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.020141	0.030303	0.031250	0.026316	0.000000	0.017241	0.006098	0.000000	0.05	1777.43	33	chr2	178546480	.	A	T	1777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.37;DP=602;ExcessHet=0;FS=0.559;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.93;ReadPosRankSum=0.763;SOR=0.641	GT:AD:DP:GQ:PL	0/1:109,70:179:99:1789,0,2803	9	0	1	0
chr2	178735576	178735576	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon47:c.C11138G:p.T3713S,TTN:NM_001256850:exon48:c.C13919G:p.T4640S,TTN:NM_001267550:exon50:c.C14870G:p.T4957S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	0	1481	38	3	0	44	0.0146374	.	.	.	55759	Cardiomyopathy|Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Tibial_muscular_dystrophy|not_provided|Cardiovascular_phenotype|not_specified|TTN-related_disorder	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MedGen:CN230736|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.101	0.0229239419314	0.0026	0.00179712	0.0032	0.0005	0.0055	0	0	0.0043	0.0023	0.0015	0.0031436	486	154602	rs72648925	0.0030	0.0030	0.0030	0.0030	0.0210	0.0029	0.0029	0.0180	0.0168	0.0006	0.0053	0.0096	0	0.0004	0.0210	0.0030	0.0054	0.0010	0.0029	0.0029	0.0031	0.0026	0.0048	0.0026	0.0026	0.0040	0.0036	0.0007	0.0724	0.0048	0.0092	0	0.0003	0.0204	0.0031	0.0057	0.0012	0.845	0.02774	T	.	.	.	0.042	0.21471	B	0.089	0.29769	B	.	.	.	.	1	0.81001	D	.	.	.	-0.21	0.66294	T	-1.59	0.38345	N	0.218	0.25499	-0.7643	0.57171	T	0.210	0.56973	T	9	0.010286361	0.00230	T	0.022924	0.45860	T	0.101	0.28911	0.411	0.44723	0.267755039894	0.26402	.	.	0.0944205393079	0.10659	0.299888879061	0.10385	T	.	.	.	-0.400026	0.02314	T	-0.345051	0.39772	T	0.0151876776152873	0.00332	T	0.525248	0.26896	T	.	.	.	.	.	.	.	.	-4.441	0.30109	T	.	.	0.092	0.13456	B	.;.;.;.	.;.;.;.	2.060744	0.26204	17.03	0.78687213788378996	0.12409	0.90596	0.51903	D	AEFBI	0.631242	0.61229	D	-0.0168114708298125	0.41095	2.452012	0.154209315163401	0.47365	2.967873	0.99297273192638	0.33037	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.77	4.79	0.60909	2.045000	0.40873	.	.	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.827000	0.38976	0.0:0.0:0.7496:0.2504	13.953	0.63641	341	0.85936	.;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	0.016616	0.005051	0.028533	0.029240	0.000000	0.008621	0.009146	0.000000	0.05	1517.43	34	chr2	178735576	.	G	C	1517.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.536;DP=445;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.05;ReadPosRankSum=-0.392;SOR=0.732	GT:AD:DP:GQ:PL	0/1:49,59:108:99:1529,0,1227	9	0	1	0
chr2	184938726	184938726	-	GCC	exonic	ZNF804A	.	nonframeshift insertion	ZNF804A:NM_194250:exon4:c.3330_3331insGCC:p.A1119_G1120insA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1345.39	39	chr2	184938726	.	T	TGCC	1345.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.8;DP=485;ExcessHet=0;FS=1.605;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.463;SOR=0.913	GT:AD:DP:GQ:PL	0/1:76,38:114:99:1357,0,3010	9	0	1	0
chr2	190437203	190437203	C	T	exonic	MFSD6	.	nonsynonymous SNV	MFSD6:NM_001375987:exon2:c.C1174T:p.R392C,MFSD6:NM_001375989:exon2:c.C1174T:p.R392C,MFSD6:NM_001375990:exon2:c.C1174T:p.R392C,MFSD6:NM_001375986:exon3:c.C1174T:p.R392C,MFSD6:NM_001375988:exon3:c.C1174T:p.R392C,MFSD6:NM_001375992:exon3:c.C1174T:p.R392C,MFSD6:NM_017694:exon3:c.C1174T:p.R392C	.	435	1083	4	0	0	4	0.00184332	.	.	.	3446711	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0680465331112	7.7e-05	.	7.416e-05	9.612e-05	8.645e-05	0	0	0.0001	0	0	9.7e-05	15	154602	rs368765746	6.635e-05	6.635e-05	6.534e-05	6.738e-05	0.0029	5.561e-05	5.152e-05	0.0019	0.0015	8.961e-05	0.0003	0	7.557e-05	0	0.0029	4.586e-05	0.0001	0	6.57e-05	6.567e-05	6.423e-05	6.723e-05	0.0001	3.516e-05	2.616e-05	5.841e-05	4.238e-05	2.413e-05	0	6.545e-05	0	0	0	0	0.0001	0	0	0.01	0.56456	D	0.008	0.67890	D	0.998	0.73220	D	0.613	0.51171	P	0.000224	0.47286	D	0.217162	0.997102	0.43633	D	1.39	0.34934	L	-1.58	0.81987	D	-3.12	0.63782	D	0.332	0.37301	-0.1257	0.79502	T	0.441	0.77909	T	10	0.39671633	0.55279	T	0.068047	0.70339	D	0.420	0.72930	.	.	0.723527460954	0.72108	0.7873653540548109	0.78688	1.12360715339	0.78375	0.402991592884	0.25486	T	0.062561	0.31948	T	-0.118679	0.33341	T	-0.106529	0.62886	T	0.226155827918212	0.21767	T	0.943606	0.78679	D	0.10353159	0.24472	0.11786497	0.28451	0.10353159	0.24472	0.11786497	0.28450	-7.862	0.60126	D	.	.	0.113	0.22464	B	.;.	.;.	5.372535	0.90062	31	0.9992037126755613	0.98721	0.98231	0.80757	D	AEFBI	0.704587	0.66026	D	0.437868019542799	0.63519	4.587095	0.538613041112904	0.70608	5.530416	0.999999665565703	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	6.16	6.16	0.99302	3.547000	0.53416	7.720000	0.67265	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.848	0.96719	696	0.58299	Major facilitator superfamily associated domain;Major facilitator superfamily associated 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	.	.	.	.	.	.	.	.	0.05	2344.43	47	chr2	190437203	.	C	T	2344.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=598;ExcessHet=0;FS=1.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.37;ReadPosRankSum=1.06;SOR=0.778	GT:AD:DP:GQ:PL	0/1:125,101:226:99:2356,0,2851	9	0	1	0
chr2	205553363	205553363	C	T	exonic	PARD3B	.	nonsynonymous SNV	PARD3B:NM_057177:exon21:c.C3013T:p.R1005C,PARD3B:NM_152526:exon21:c.C3034T:p.R1012C,PARD3B:NM_205863:exon21:c.C2917T:p.R973C,PARD3B:NM_001302769:exon22:c.C3220T:p.R1074C	.	422	1098	2	0	0	2	0.000909918	.	.	.	2341608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0356646746437	0.0002	.	9.125e-05	0.0001	0	0	0	9.001e-05	0	0.0002	9.06e-05	14	154602	rs201558826	0.0001	0.0001	0.0001	0.0001	0.0003	0.0001	9.901e-05	0.0002	0.0001	2.987e-05	2.236e-05	3.827e-05	0	1.872e-05	0	0.0001	6.624e-05	0.0003	5.91e-05	5.906e-05	5.139e-05	6.717e-05	0.0006	3.076e-05	2.209e-05	0.0002	9.007e-05	0	0	6.54e-05	0	0	0	0	7.35e-05	0	0.0006	0.008	0.65419	D	0.021	0.58089	D	0.999	0.90584	D	0.642	0.62312	P	0.000085	0.51296	D	0.000000	0.999571	0.47641	D	2.175	0.60977	M	2.64	0.15261	T	-1.59	0.44657	N	0.513	0.54409	-1.1002	0.04067	T	0.085	0.33185	T	10	0.22637329	0.39491	T	0.035665	0.56494	D	0.165	0.42395	.	.	0.602055327248	0.59887	0.18788060557187622	0.18706	0.0824676679506	0.09304	0.368152081966	0.20567	T	0.010416	0.22540	T	-0.207452	0.19739	T	-0.261467	0.48677	T	0.33562383055687	0.26449	T	0.90001	0.78180	D	0.105628766	0.24975	0.06617693	0.13520	0.105628766	0.24975	0.06617693	0.13520	-6.984	0.54551	T	.	.	0.110	0.35788	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.845233	0.55667	23.6	0.99778477912705876	0.86519	0.93813	0.59265	D	AEFDBI	0.638381	0.61682	D	0.26432089690181	0.54351	3.600869	0.23079945285497	0.51564	3.337891	0.999477267809573	0.39898	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.61	4.73	0.59485	4.840000	0.62513	3.337000	0.37675	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.1481:0.8519:0.0:0.0	14.354	0.66289	803	0.44167	.;.;.;.;.;.;.	.	.	.	.	.	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	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1140.43	46	chr2	205553363	.	C	T	1140.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.51;DP=500;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=-0.688;SOR=0.748	GT:AD:DP:GQ:PL	0/1:83,50:133:99:1152,0,1797	9	0	1	0
chr2	206308643	206308643	A	G	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.A4115G:p.D1372G,ZDBF2:NM_001369654:exon6:c.A4115G:p.D1372G,ZDBF2:NM_001285549:exon7:c.A4109G:p.D1370G	.	.	.	.	.	.	.	.	.	.	.	2286579	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.045	0.0121377284832	.	.	5.832e-05	0	0.0003	0	0	4.522e-05	0.0011	0	4.53e-05	7	154602	rs747341384	4.999e-05	4.994e-05	4.769e-05	5.231e-05	0.0014	4.063e-05	3.738e-05	0.0007	0.0005	2.987e-05	0.0003	0	0	0	0.0014	3.958e-05	9.94e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	5.289e-05	2.836e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.121	0.27783	T	0.106	0.37872	T	0.675	0.41275	P	0.186	0.36104	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	0.58	0.54149	T	-3.5	0.68178	D	0.066	0.06720	-1.0398	0.17374	T	0.103	0.38069	T	9	0.099188596	0.17983	T	0.012138	0.30444	T	0.045	0.12272	0.157	0.06070	0.305730143919	0.30178	0.07278984605443199	0.07215	0.224327558168	0.24967	0.276559889317	0.07018	T	0.028315	0.33914	T	-0.439016	0.01311	T	-0.566671	0.15756	T	0.130620658397675	0.15440	T	.	.	.	0.076360874	0.17266	0.08782761	0.20439	0.076360874	0.17265	0.08782761	0.20439	-3.911	0.22467	T	.	.	0.102	0.21503	B	.;.;.;.	.;.;.;.	0.545565	0.09141	5.924	0.92398512855108461	0.21810	0.02254	0.06525	N	AEFBI	0.032979	0.03827	N	-0.708036008027068	0.15795	0.7991936	-0.872214299424559	0.12754	0.6579114	9.25399853482627E-5	0.04910	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.579976	0.35079	0	.	.	3.63	0.044	0.13543	0.203000	0.17113	0.843000	0.22062	0.756000	0.94297	0.000000	0.06391	0.006000	0.19429	0.021000	0.11733	0.6349:0.0:0.365:0.0	5.707	0.17184	902	0.24074	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1389.43	74	chr2	206308643	.	A	G	1389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=628;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.49;ReadPosRankSum=0.838;SOR=0.756	GT:AD:DP:GQ:PL	0/1:47,56:103:99:1401,0,1062	9	0	1	0
chr2	209957718	209957718	C	T	exonic	UNC80	.	nonsynonymous SNV	UNC80:NM_032504:exon48:c.C7334T:p.S2445L,UNC80:NM_182587:exon48:c.C7319T:p.S2440L,UNC80:NM_001371986:exon49:c.C7532T:p.S2511L	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, Autosomal recessive	426	1095	1	0	0	1	0.000456413	.	.	.	1431052	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.278	0.00442522454573	.	.	0.0001	0	0	0	0	0	0.0041	0.0003	2.59e-05	4	154602	rs368581465	4.503e-05	4.309e-05	2.962e-05	6.086e-05	0.0005	3.597e-05	3.269e-05	0.0003	0.0003	0	0	0	0	6.088e-05	0	1.761e-05	6.898e-05	0.0005	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.0	0.92824	D	0.997	0.70673	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.895	0.50365	L	1.5	0.31205	T	-3.75	0.71157	D	0.449	0.52119	-0.8917	0.48784	T	0.161	0.49531	T	10	0.27059165	0.44591	T	0.004425	0.10812	T	0.278	0.59497	0.209	0.12639	0.363751660372	0.35992	0.6809871011402334	0.68037	0.875910447209	0.69566	0.737038850784	0.72536	T	0.214197	0.57572	T	-0.0964445	0.37013	T	-0.0601563	0.66320	T	0.682844519615173	0.39918	D	0.963304	0.86445	D	0.43549535	0.63111	0.31119147	0.57126	0.43549535	0.63112	0.31119147	0.57126	-3.284	0.15043	T	0.12967967861646146	0.13569	0.134	0.29060	B	.;.	.;.	5.354183	0.89805	31	0.99899580190463966	0.97199	0.98538	0.83854	D	AEFBI	0.912909	0.87417	D	0.72312373331895	0.81147	7.454901	0.709840298947083	0.83128	7.940626	0.999999584529514	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.84	4.84	0.62125	7.445000	0.79656	7.645000	0.63394	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.093	0.89407	748	0.52143	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1100.43	35	chr2	209957718	.	C	T	1100.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.004;DP=439;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.09;ReadPosRankSum=-0.505;SOR=0.841	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1112,0,1541	9	0	1	0
chr2	218164782	218164782	G	A	exonic	CXCR1	.	nonsynonymous SNV	CXCR1:NM_000634:exon2:c.C430T:p.R144C	.	394	1095	32	1	0	34	0.0152878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.235	.	0.0002	0.0071885	0.0033	9.61e-05	0.0003	0	0	0.0001	0.0055	0.0231	0.0029819	461	154602	rs111741549	0.0014	0.0014	0.0008	0.0020	0.0213	0.0014	0.0013	0.0205	0.0202	8.961e-05	0.0002	0	2.519e-05	0	0.0050	8.453e-05	0.0017	0.0213	0.0009	0.0009	0.0006	0.0012	0.0253	0.0008	0.0008	0.0216	0.0202	0.0002	0	0	0	0	0	0.0034	0.0001	0.0005	0.0253	0.0	0.91255	D	0.039	0.51112	D	0.571	0.38591	P	0.189	0.36295	B	0.000622	0.42799	D	0.195160	0.976278	0.39261	D	3.225	0.89467	M	0.95	0.43279	T	-4.32	0.76655	D	0.218	0.24385	-0.6961	0.60624	T	0.160	0.49413	T	10	0.005643517	0.00125	T	.	.	.	0.235	0.53788	.	.	0.733002149173	0.73062	0.38357733357133356	0.38272	0.116461663123	0.13138	0.333392649889	0.15446	T	0.412919	0.76693	T	-0.304049	0.08282	T	-0.191936	0.55407	T	0.13430649001899	0.15774	T	0.79842	0.44325	T	0.3759007	0.59018	0.39109933	0.63889	0.3759007	0.59018	0.39109933	0.63889	-10.154	0.74829	D	.	.	0.259	0.49402	B	.	.	3.625763	0.51336	23.1	0.99851729412726908	0.93102	0.39393	0.26203	N	AEFDGBI	0.299338	0.40842	N	0.188144503605216	0.50629	3.251149	0.175859659243105	0.48527	3.067516	0.996075153280669	0.34508	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	2.189000	0.42253	2.346000	0.32284	0.676000	0.76740	0.209000	0.24412	0.052000	0.21854	0.885000	0.42453	0.0:0.0:0.837:0.163	12.880	0.57400	929	0.16858	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.05	4143.43	34	chr2	218164782	.	G	A	4143.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.565;DP=804;ExcessHet=0;FS=0.392;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.234;SOR=0.719	GT:AD:DP:GQ:PL	0/1:172,166:338:99:4155,0,4189	9	0	1	0
chr2	227308920	227308920	A	G	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon49:c.A4484G:p.Q1495R	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	250651	not_specified|Kidney_disorder|Alport_syndrome|Autosomal_recessive_Alport_syndrome|Autosomal_dominant_Alport_syndrome|Benign_familial_hematuria|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|MONDO:MONDO:0018965,MedGen:C1567741,OMIM:PS301050,Orphanet:63|MONDO:MONDO:0008762,MedGen:C4746745,OMIM:203780,Orphanet:63,Orphanet:88919|MONDO:MONDO:0007086,MedGen:C5882663,OMIM:104200,Orphanet:63,Orphanet:88918|MONDO:MONDO:0957317,MedGen:C0241908,OMIM:PS141200|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.307	.	0.0073	0.00259585	0.0068	0.0017	0.0021	0	0.0027	0.0101	0.0044	0.0050	0.0070116	1084	154602	rs77964815	0.0095	0.0095	0.0098	0.0093	0.0114	0.0094	0.0093	0.0113	0.0112	0.0018	0.0019	0.0006	0	0.0029	0.0082	0.0114	0.0064	0.0053	0.0056	0.0056	0.0066	0.0046	0.0103	0.0053	0.0052	0.0097	0.0094	0.0017	0.0077	0.0022	0.0009	0	0.0017	0.0034	0.0103	0.0019	0.0048	1.0	0.00964	T	1.0	0.01155	T	0.659	0.40886	P	0.541	0.48869	P	0.000028	0.55875	D	0.000000	0.996988	0.43549	D	0.955	0.23872	L	-3.39	0.94210	D	0.49	0.02993	N	0.256	0.28965	-0.0204	0.81831	T	0.460	0.79032	T	10	0.00907886	0.00205	T	.	.	.	0.307	0.62838	.	.	0.800665467327	0.79880	0.6270503934205522	0.62638	0.202560139843	0.22675	0.532744824886	0.43422	T	0.191474	0.54633	T	-0.320948	0.06821	T	-0.220822	0.52658	T	0.0491793342259959	0.05356	T	0.840916	0.51656	T	0.22895817	0.45624	0.26442328	0.52261	0.25867096	0.48917	0.3074096	0.56762	-2.874	0.08886	T	0.25660238841887395	0.34686	0.092	0.18414	B	.;.	.;.	2.960464	0.39422	21.0	0.78986793438417635	0.12540	0.71934	0.35230	D	ALL	0.288448	0.40033	N	-0.0991648954216914	0.37428	2.177447	0.0686877593950201	0.42984	2.609712	0.999999686673842	0.74766	0.487112	0.14033	0	0.68618	0.66647	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	2.137000	0.41754	7.130000	0.57621	0.756000	0.94297	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.9296:0.0:0.0704:0.0	10.745	0.45374	874	0.30607	Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous;Collagen IV, non-collagenous|Collagen IV, non-collagenous|Collagen IV, non-collagenous	.	.	.	.	.	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	0	0	1	0	0.011581	0.035354	0.009511	0.002924	0.000000	0.017241	0.012195	0.007576	0.05	1236.43	33	chr2	227308920	.	A	G	1236.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.66;DP=430;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.276;SOR=0.853	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1248,0,1656	9	0	1	0
chr2	229591816	229591816	C	T	exonic	DNER	.	nonsynonymous SNV	DNER:NM_139072:exon2:c.G349A:p.D117N	.	415	1099	1	0	7	8	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.240382747405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	3.42e-06	1.363e-06	5.51e-06	2.992e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.992e-05	0	0	0	0	0	2.701e-06	1.659e-05	0	6.587e-06	6.572e-06	0	1.349e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	1.0	0.00964	T	0.022	0.57587	D	0.017	0.17573	B	0.003	0.08700	B	0.164714	0.17554	N	0.628659	0.976235	0.39258	D	-0.04	0.05001	N	-2.25	0.87272	D	-0.57	0.17210	N	0.181	0.19593	-0.6581	0.62359	T	0.319	0.68839	T	10	0.10538623	0.19478	T	0.240383	0.88672	D	0.187	0.46274	0.307	0.27806	0.575483156055	0.57216	0.3690868176414553	0.36822	0.128894738699	0.14537	0.382844746113	0.22659	T	0.173935	0.52298	T	-0.16747	0.25619	T	-0.478335	0.24622	T	0.483704030513763	0.32033	T	0.289471	0.05256	T	0.034141365	0.03773	0.030199641	0.01446	0.034141365	0.03773	0.030199641	0.01446	-3.787	0.20610	T	.	.	0.081	0.08224	B	.	.	0.778799	0.11490	8.091	0.95082318958236756	0.26136	0.52178	0.29070	D	AEFDIJ	0.220625	0.34535	N	-0.709520483023827	0.15753	0.7966866	-0.553981751711738	0.20700	1.116468	0.989080022798683	0.31718	0.752111	0.98806	0	0.59043	0.45803	0	0.389834	0.06288	2	0.564101	0.26826	0	.	.	4.1	4.1	0.47196	0.266000	0.18300	0.336000	0.17333	0.599000	0.40250	0.286000	0.25196	0.115000	0.22839	0.630000	0.32157	0.0:0.905:0.0:0.095	10.091	0.41618	951	0.11083	EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	2476.14	33	chr2	229591816	.	C	T	2476.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.66;DP=517;ExcessHet=0.2348;FS=1.072;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.198;SOR=0.811	GT:AD:DP:GQ:PL	0/1:51,48:101:99:1216,0,1402	8	0	2	0
chr2	229976317	229976317	A	G	exonic	FBXO36	.	nonsynonymous SNV	FBXO36:NM_174899:exon2:c.A173G:p.H58R	.	441	1066	15	0	0	15	0.00698649	.	.	.	2344268	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.249	0.0150657575556	0.0005	0.000199681	0.0010	0	0.0005	0	0	0.0012	0	0.0022	0.0009508	147	154602	rs139081403	0.0007	0.0007	0.0006	0.0007	0.0113	0.0006	0.0006	0.0091	0.0083	8.965e-05	0.0010	0.0047	0	0	0.0113	0.0004	0.0013	0.0024	0.0007	0.0007	0.0006	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	4.809e-05	0	0.0023	0.0049	0	9.414e-05	0.0034	0.0006	0.0014	0.0010	0.05	0.41096	D	0.026	0.55759	D	0.952	0.70673	P	0.601	0.62418	P	0.000000	0.84330	D	0.000000	0.884071	0.27999	N	2.695	0.78878	M	0.7	0.55266	T	-5.08	0.83092	D	0.564	0.63120	-0.4428	0.70637	T	0.329	0.69682	T	10	0.020536453	0.00475	T	0.015066	0.35586	T	0.249	0.55752	.	.	0.829300019503	0.82767	0.7481369098619418	0.74759	0.180973065125	0.20352	0.464250594378	0.33892	T	0.164	0.50943	T	-0.331705	0.05984	T	-0.255105	0.49311	T	0.123124136544954	0.14732	T	0.786621	0.43725	T	0.5184272	0.68169	0.503896	0.71323	0.5184272	0.68170	0.503896	0.71324	-3.344	0.14311	T	.	.	0.234	0.59948	B	.;.;.	.;.;.	3.820712	0.55171	23.6	0.99693346224742629	0.80112	0.85925	0.45116	D	AEFBI	0.460414	0.51060	N	0.515172305933091	0.67985	5.155493	0.461323216665259	0.65446	4.825021	0.83906728037772	0.24832	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.421255	0.06892	1	.	.	5.74	5.74	0.90070	5.674000	0.67788	10.192000	0.83237	0.748000	0.86766	0.989000	0.36753	1.000000	0.68203	0.971000	0.54645	1.0:0.0:0.0:0.0	13.605	0.61507	963	0.08280	.;.;.	.	.	.	.	.	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	0.010070	0.000000	0.009511	0.023392	0.000000	0.017241	0.003049	0.003788	0.1	1297.14	41	chr2	229976317	.	A	G	1297.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.866;DP=394;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=-0.072;SOR=0.678	GT:AD:DP:GQ:PL	0/1:18,37:55:99:838,0,314	8	0	2	0
chr2	231108647	231108647	G	C	exonic	HTR2B	.	nonsynonymous SNV	HTR2B:NM_000867:exon4:c.C1316G:p.P439R,HTR2B:NM_001320758:exon4:c.C1190G:p.P397R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.0259814893166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.018	0.59732	D	0.747	0.43174	P	0.422	0.45143	B	0.000065	0.52346	D	0.202842	0.999999	0.81001	D	1.795	0.47270	L	0.27	0.59176	T	-2.19	0.49352	N	0.154	0.15888	-0.7056	0.60169	T	0.245	0.61331	T	10	0.28789857	0.46372	T	0.025981	0.48919	D	0.196	0.47777	0.394	0.41935	0.918227514832	0.91740	0.5812556721169575	0.58054	0.198794521123	0.22261	0.386411428452	0.23162	T	0.209136	0.56927	T	0.0288559	0.55572	T	-0.196327	0.54994	T	0.946618556976318	0.62507	D	0.825917	0.48908	T	0.42155147	0.62195	0.6005724	0.76795	0.42155147	0.62195	0.6005724	0.76796	-3.474	0.16070	T	.	.	0.11	0.21201	B	.	.	3.638861	0.51583	23.1	0.99655786592801632	0.77631	0.99343	0.94772	D	AEFBI	0.903195	0.85198	D	0.57704169635118	0.71743	5.69758	0.659718738047485	0.79335	7.060979	0.999999999999991	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.446627	0.06593	0	0.491896	0.07777	0	.	.	5.9	5.9	0.94952	7.687000	0.83428	8.734000	0.78191	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	20.279	0.98503	946	0.12043	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	843.43	33	chr2	231108647	.	G	C	843.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.441;DP=375;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.05;ReadPosRankSum=0.347;SOR=0.641	GT:AD:DP:GQ:PL	0/1:37,33:70:99:855,0,1031	9	0	1	0
chr2	232336581	232336583	AGG	-	exonic	DIS3L2	.	nonframeshift deletion	DIS3L2:NM_152383:exon21:c.2609_2611del:p.E874del	Perlman syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	517951	Perlman_syndrome	MONDO:MONDO:0009965,MedGen:C0796113,OMIM:267000,Orphanet:2849	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs749247083	2.128e-05	2.394e-05	1.776e-05	2.483e-05	6.957e-05	1.525e-05	1.329e-05	2.995e-05	2.038e-05	0	0	0	0	0	0	2.248e-05	0	6.957e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3985.1	34	chr2	232336580	.	AAGG	A	3985.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.356;DP=513;ExcessHet=0.2348;FS=0.518;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=19.93;ReadPosRankSum=-0.107;SOR=0.693	GT:AD:DP:GQ:PL	0/1:44,56:100:99:2189,0,1679	8	0	2	0
chr2	232525474	232525474	A	-	exonic	PRSS56	.	frameshift deletion	PRSS56:NM_001195129:exon13:c.1780delA:p.N594Tfs*72,PRSS56:NM_001369848:exon13:c.1783delA:p.N595Tfs*72	Microphthalmia, isolated 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	574.39	37	chr2	232525473	.	CA	C	574.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.926;DP=411;ExcessHet=0;FS=1.087;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.165;SOR=0.807	GT:AD:DP:GQ:PL	0/1:34,20:54:99:586,0,1095	9	0	1	0
chr2	233462650	233462650	A	G	exonic	DGKD	.	nonsynonymous SNV	DGKD:NM_001377259:exon24:c.A2702G:p.N901S,DGKD:NM_003648:exon25:c.A2969G:p.N990S,DGKD:NM_152879:exon26:c.A3101G:p.N1034S	.	406	1104	11	1	0	13	0.00585322	.	.	.	3205201	DGKD-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.135	.	.	0.00319489	0.0030	0	0.0006	0	0	8.996e-05	0.0077	0.0210	0.0025614	396	154602	rs201384247	0.0012	0.0012	0.0006	0.0018	0.0189	0.0011	0.0011	0.0182	0.0178	2.987e-05	4.473e-05	0	0	0	0.0016	7.195e-06	0.0013	0.0189	0.0006	0.0006	0.0003	0.0009	0.0172	0.0005	0.0004	0.0142	0.0131	2.406e-05	0	0	0	0	0	0	0	0	0.0172	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.046294	0.23454	N	0.439500	0.981593	0.25027	N	-0.14	0.04484	N	-1.0	0.78199	T	0.16	0.05217	N	0.059	0.03069	-0.9630	0.38606	T	0.138	0.45545	T	10	0.004060954	0.00079	T	.	.	.	0.135	0.36572	0.256	0.19689	0.407223025684	0.40337	0.06614763545967561	0.06553	0.388573688024	0.40119	0.328598856926	0.14722	T	0.05319	0.29372	T	-0.380252	0.03105	T	-0.608135	0.12136	T	0.00399687234021469	0.00042	T	.	.	.	0.021439802	0.00746	0.025286177	0.00569	0.021439802	0.00746	0.025286177	0.00569	-1.101	0.01118	T	.	.	0.067	0.02927	B	.;.	.;.	0.526691	0.08954	5.735	0.20337870859659538	0.00727	0.59331	0.30886	D	AEFBCI	0.070745	0.14055	N	-1.04244424391411	0.07736	0.3604049	-0.910491983081611	0.11846	0.6059977	0.696190951250509	0.22644	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.08	-1.44	0.08391	0.137000	0.15816	-0.179000	0.11150	-0.054000	0.16847	0.736000	0.28985	0.000000	0.08366	0.676000	0.33425	0.4875:0.278:0.2345:0.0	4.868	0.12976	917	0.20147	.;.	.	.	.	.	.	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	1	0	0.003525	0.000000	0.000000	0.008772	0.000000	0.000000	0.000000	0.011364	0.1	2215.14	34	chr2	233462650	.	A	G	2215.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.35;DP=467;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=1.16;SOR=0.708	GT:AD:DP:GQ:PL	0/1:44,46:90:99:1121,0,1128	8	0	2	0
chr2	233637282	233637282	C	T	exonic	UGT1A10	.	stopgain	UGT1A10:NM_019075:exon1:c.C760T:p.R254X	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.000798722	0.0005	0.0038	8.637e-05	0	0	5.997e-05	0	0.0007	0.0003881	60	154602	rs61748821	0.0002	0.0002	0.0002	0.0002	0.0044	0.0001	0.0001	0.0038	0.0036	0.0044	0.0002	0	2.519e-05	0	0.0003	1.079e-05	0.0002	0.0007	0.0010	0.0010	0.0011	0.0008	0.0032	0.0009	0.0008	0.0028	0.0026	0.0032	0	0.0005	0	0.0002	0	0	5.88e-05	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.751	0.75009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195615	0.54322	T	0.254484	0.85832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.027261	0.96051	35	0.996564195106312	0.77631	0.07703	0.13706	N	AEFGI	0.121528	0.23623	N	0.00934826952317588	0.42280	2.544461	-0.316884459816916	0.27553	1.529699	7.73690491685624E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	3.52	-0.726	0.10606	0.394000	0.20559	-20.000000	0.00162	0.599000	0.40250	0.013000	0.18845	0.000000	0.08366	0.330000	0.25202	0.6397:0.3602:0.0:0.0	12.880	0.57400	471	0.78036	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	5128.14	43	chr2	233637282	.	C	T	5128.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.27;DP=790;ExcessHet=0.2348;FS=3.221;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.98;MQRankSum=0;QD=12.36;ReadPosRankSum=0.681;SOR=0.468	GT:AD:DP:GQ:PL	0/1:115,106:221:99:2558,0,2624	8	0	2	0
chr2	237821361	237821362	AC	-	exonic	RBM44	.	frameshift deletion	RBM44:NM_001080504:exon7:c.2113_2114del:p.H706Cfs*8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	.	0.0014	0.0006	0.0007	0	0	0.0028	0	0.0001	0.0002689	7	26028	rs529676431	0.0022	0.0023	0.0023	0.0020	0.0026	0.0021	0.0021	0.0025	0.0025	0.0004	0.0007	0	0	0.0012	0.0005	0.0026	0.0019	6.291e-05	0.0012	0.0012	0.0012	0.0011	0.0021	0.0010	0.0010	0.0018	0.0017	0.0002	0	0.0007	0	0	0.0010	0	0.0021	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	852.41	34	chr2	237821360	.	AAC	A	852.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.453;DP=294;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.781;SOR=0.708	GT:AD:DP:GQ:PL	0/1:6,7:13:99:272,0,227	7	0	3	0
chr2	238140834	238140834	G	A	exonic	KLHL30	.	nonsynonymous SNV	KLHL30:NM_198582:exon2:c.G80A:p.R27H	.	427	1094	1	0	0	1	0.00045683	.	.	.	4156026	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.726	0.113158947098	0.0002	.	4.797e-05	0	0	0	0	3.504e-05	0	0.0002	3.23e-05	5	154602	rs367910560	5.013e-05	5.062e-05	4.094e-05	5.942e-05	0.0014	4.074e-05	3.748e-05	0.0007	0.0005	0	4.496e-05	0	2.527e-05	0	0.0014	4.239e-05	3.327e-05	0.0002	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	7.285e-05	3.027e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0004	0.008	0.58626	D	0.127	0.35082	T	1.0	0.90584	D	0.986	0.76916	D	0.000000	0.84330	D	0.052440	0.999961	0.52935	D	3.295	0.90403	M	-0.72	0.72994	T	-3.74	0.71042	D	0.585	0.60579	0.408	0.89223	D	0.630	0.87021	D	10	0.85973895	0.85188	D	0.113159	0.79156	D	0.726	0.90369	.	.	0.883310691925	0.88216	0.6029013696753504	0.60221	0.740695350746	0.63242	0.396209985018	0.24541	T	0.619886	0.88070	D	-0.0464378	0.44986	T	-0.044802	0.67377	D	0.928047776222229	0.59126	D	0.949705	0.80662	D	0.59974724	0.72678	0.6726996	0.80790	0.59974724	0.72679	0.6726996	0.80791	-9.463	0.70629	D	.	.	0.171	0.37596	B	.	.	5.079483	0.84758	28.4	0.9995455341480195	0.99969	0.99192	0.92589	D	AEFBI	0.927459	0.91014	D	0.972067258802171	0.94820	13.06705	0.903943377552301	0.95741	13.92146	1.0	0.98316	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.75	5.75	0.90390	9.894000	0.98600	9.655000	0.81180	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.394000	0.26647	0.0:0.0:1.0:0.0	18.713	0.91628	969	0.06854	BTB/POZ 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	.	.	.	.	.	.	.	.	0.05	995.43	34	chr2	238140834	.	G	A	995.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=397;ExcessHet=0;FS=1.88;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.25;SOR=1.009	GT:AD:DP:GQ:PL	0/1:39,41:80:99:1007,0,859	9	0	1	0
chr3	9759206	9759206	-	T	exonic	OGG1	.	frameshift insertion	OGG1:NM_016828:exon7:c.969dupT:p.M325Yfs*8	Renal cell carcinoma, clear cell, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2838.39	34	chr3	9759206	.	C	CT	2838.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.095;DP=535;ExcessHet=0;FS=1.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.79;ReadPosRankSum=0.893;SOR=0.567	GT:AD:DP:GQ:PL	0/1:114,108:222:99:2850,0,3055	9	0	1	0
chr3	15003967	15003967	C	G	exonic	NR2C2	.	nonsynonymous SNV	NR2C2:NM_001291694:exon2:c.C53G:p.A18G,NR2C2:NM_003298:exon2:c.C53G:p.A18G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0295345532005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.189e-05	0.0009	5.651e-05	4.724e-05	5.923e-05	4.24e-05	3.867e-05	4.761e-05	4.337e-05	3.02e-05	0	3.857e-05	2.528e-05	0	0	5.923e-05	6.69e-05	3.495e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.42199	T	0.088	0.63109	T	0.0	0.02946	B	0.0	0.01387	B	0.002953	0.35672	N	0.313188	0.869993	0.35545	D	-0.14	0.04484	N	-3.3	0.93787	D	-1.5	0.68764	N	0.324	0.36464	0.217	0.86200	D	0.665	0.88392	D	10	0.1999422	0.36022	T	0.029535	0.52028	D	0.348	0.66956	0.082	0.00727	0.202312658747	0.19855	0.13027040555393532	0.12952	0.343984992891	0.36322	0.632090747356	0.57442	T	0.163841	0.50907	T	0.0950387	0.63753	D	-0.10126	0.63300	T	0.647998213768005	0.38376	D	0.841416	0.51891	T	0.14685042	0.33598	0.112335265	0.27105	0.14685042	0.33597	0.112335265	0.27104	-2.954	0.13971	T	.	.	0.074	0.62122	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.397345	0.47066	22.4	0.98891559513655258	0.48019	0.95884	0.66568	D	AEFBI	0.571784	0.57563	D	-0.0193053131226323	0.40981	2.443305	0.183621717806624	0.48950	3.104215	0.999976298748313	0.50053	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	4.784000	0.62103	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.577	0.91115	588	0.69043	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	994.1	208	chr3	15003967	.	C	G	994.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-4.547;DP=1799;ExcessHet=4.5998;FS=193.146;InbreedingCoeff=-0.431;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.99;SOR=11.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,39:174:99:0|1:15003967_C_G:142,0,3482:15003967	4	0	6	0
chr3	20040510	20040629	CTGCGGGGCAGGAGCCGGGGCAGGGGCCGGGCCCGGGGCGCTGCCCCCGCAGCCTGCGGCGCTTCCGCCCGCGCCCCCGCAGGGCTCCCCCTGCGCCGCTGCCGCCGGGGGCTCGGGCGC	-	exonic	KAT2B	.	nonframeshift deletion	KAT2B:NM_003884:exon1:c.33_152del:p.A14_G53del	.	.	.	.	.	.	.	.	.	.	.	3208522	KAT2B-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.6	.	.	.	0.6667	0.5	.	.	.	.	.	.	0.0013	0.0017	0.0012	0.0013	0.0095	0.0012	0.0012	0.0066	0.0057	0.0007	0.0095	0	0	0.0134	0.0005	0.0011	0.0026	0.0003	0.0002	0.0003	0.0003	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	7.316e-05	0.0011	0.0003	0	0	0.0012	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	759.52	3	chr3	20040509	.	GCTGCGGGGCAGGAGCCGGGGCAGGGGCCGGGCCCGGGGCGCTGCCCCCGCAGCCTGCGGCGCTTCCGCCCGCGCCCCCGCAGGGCTCCCCCTGCGCCGCTGCCGCCGGGGGCTCGGGCGC	G	759.52	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.788;DP=54;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=23.02;ReadPosRankSum=-1.592;SOR=0.527	GT:AD:DP:GQ:PL	0/1:8,25:33:99:769,0,219	8	0	1	1
chr3	27297207	27297207	T	C	exonic	NEK10	.	nonsynonymous SNV	NEK10:NM_152534:exon15:c.A1202G:p.N401S,NEK10:NM_199347:exon15:c.A1202G:p.N401S	.	433	1052	34	3	0	40	0.0186567	.	.	.	698020	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.082	.	0.0094	0.00359425	0.0088	0.0036	0.0071	0.0002	0.0006	0.0133	0.0101	0.0023	0.0079559	1230	154602	rs141057699	0.0095	0.0096	0.0095	0.0095	0.0363	0.0094	0.0093	0.0322	0.0307	0.0030	0.0090	0.0556	0.0002	0.0009	0.0363	0.0096	0.0135	0.0026	0.0077	0.0077	0.0084	0.0070	0.0097	0.0074	0.0072	0.0088	0.0086	0.0029	0	0.0097	0.0602	0.0006	0.0002	0.0238	0.0094	0.0161	0.0029	0.121	0.27783	T	0.029	0.57104	D	0.011	0.15914	B	0.014	0.16862	B	0.005918	0.32413	N	0.344209	0.955034	0.37906	D	1.78	0.46185	L	0.83	0.47815	T	-2.22	0.49846	N	0.348	0.38950	-1.0467	0.15332	T	0.084	0.32900	T	10	0.005595118	0.00124	T	.	.	.	0.082	0.23913	.	.	0.677678353351	0.67494	0.3220118445769102	0.32114	0.186626053331	0.20973	0.480120301247	0.36073	T	0.003156	0.02556	T	-0.573194	0.00212	T	-0.585099	0.14094	T	0.0215633066248969	0.00860	T	0.79872	0.44736	T	0.03760478	0.04853	0.10064199	0.24069	0.03760478	0.04852	0.10064199	0.24068	-8.166	0.65063	D	.	.	0.096	0.15251	B	.;.	.;.	2.527921	0.32681	19.11	0.99135401927465194	0.53383	0.93977	0.59744	D	AEFBHCI	0.718791	0.66988	D	-0.00275865169944812	0.41732	2.501382	0.182280641476564	0.48875	3.09781	0.999984651320607	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.615948	0.41167	0	0.567892	0.33627	0	.	.	5.45	5.45	0.79688	5.711000	0.68052	1.498000	0.26936	-0.690000	0.04136	1.000000	0.71638	0.973000	0.29867	0.551000	0.30197	0.0:0.0:0.0:1.0	15.800	0.78216	518	0.74548	.;.	.	.	.	.	.	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	0	0	1	0	0.031722	0.015152	0.057065	0.046784	0.000000	0.025862	0.009146	0.003788	0.05	1248.43	37	chr3	27297207	.	T	C	1248.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.49;DP=411;ExcessHet=0;FS=1.639;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.08;SOR=0.502	GT:AD:DP:GQ:PL	0/1:44,56:100:99:1260,0,1029	9	0	1	0
chr3	36834907	36834907	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon20:c.A5386G:p.I1796V,TRANK1:NM_001329998:exon21:c.A5518G:p.I1840V	.	417	1095	9	1	0	11	0.00499773	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0005	0.00798722	0.0045	0.0026	0.0010	0.0001	0	1.749e-05	0.0025	0.0310	0.0034217	529	154602	rs147234882	0.0017	0.0017	0.0010	0.0024	0.0265	0.0017	0.0016	0.0256	0.0252	0.0022	0.0005	3.936e-05	7.592e-05	0	0.0005	2.437e-05	0.0022	0.0265	0.0016	0.0016	0.0011	0.0021	0.0294	0.0014	0.0014	0.0255	0.0240	0.0022	0	0.0003	0	0	0	0	1.47e-05	0.0010	0.0294	0.261	0.16520	T	0.822	0.03806	T	0.001	0.07471	B	0.002	0.06944	B	0.000978	0.40836	N	0.171433	1	0.81001	D	-0.345	0.03330	N	1.96	0.22270	T	-0.35	0.12847	N	0.154	0.15888	-1.0461	0.15505	T	0.021	0.09056	T	10	0.0023973286	0.00036	T	0.003522	0.08000	T	0.015	0.02232	.	.	0.137902524267	0.13322	0.07510395822771523	0.07446	0.146701314769	0.16557	0.50045800209	0.38892	T	0.027341	0.20046	T	-0.561897	0.00247	T	-0.558953	0.16475	T	0.00166987179487179	0.00017	T	0.718228	0.33111	T	0.032195624	0.03199	0.041318983	0.04667	0.032195624	0.03198	0.041318983	0.04667	-3.601	0.17871	T	.	.	0.081	0.08320	B	.;.	.;.	1.737764	0.22111	15.49	0.81961478798969534	0.13948	0.76534	0.37543	D	AEFBI	0.211755	0.33751	N	-0.744725493460983	0.14777	0.7389962	-0.542477062809072	0.21005	1.134334	0.101589746274404	0.16384	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.85	2.11	0.26299	1.662000	0.37035	1.884000	0.29472	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1922:0.1216:0.6862	6.399	0.20829	693	0.58582	.;.	.	.	.	.	.	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	0.004028	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.018939	0.05	784.43	41	chr3	36834907	.	T	C	784.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.725;DP=390;ExcessHet=0;FS=2.038;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.145;SOR=0.481	GT:AD:DP:GQ:PL	0/1:31,36:67:99:796,0,710	9	0	1	0
chr3	38005835	38005835	C	T	exonic	VILL	.	nonsynonymous SNV	VILL:NM_001370265:exon13:c.C1385T:p.A462V,VILL:NM_001370264:exon14:c.C1484T:p.A495V,VILL:NM_001385039:exon17:c.C1994T:p.A665V,VILL:NM_015873:exon17:c.C1994T:p.A665V,VILL:NM_001385038:exon18:c.C1994T:p.A665V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0402095081419	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372162890	1.232e-05	1.3e-05	1.634e-05	8.255e-06	5.976e-05	7.7e-06	6.35e-06	9.9e-06	5.72e-06	5.976e-05	0	0	0	0	0	1.259e-05	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.61437	D	0.006	0.70582	D	0.997	0.70673	D	0.941	0.67658	D	0.491543	0.12051	N	0.784903	0.99898	0.45816	D	2.715	0.79425	M	1.35	0.34648	T	-3.39	0.66896	D	0.475	0.53093	-0.6349	0.63362	T	0.241	0.60881	T	10	0.5195499	0.62562	D	0.04021	0.59246	D	0.362	0.68230	.	.	0.101711395817	0.09552	0.6408219098700667	0.64017	0.497447347806	0.48245	0.350393533707	0.17978	T	0.165341	0.51115	T	-0.0340333	0.46829	T	-0.286663	0.46118	T	0.977573156356812	0.71909	D	0.683432	0.29175	T	0.30853474	0.53659	0.26806062	0.52670	0.30853474	0.53659	0.26806062	0.52669	-7.644	0.58618	D	.	.	0.130	0.30765	B	.;.;.	.;.;.	2.574107	0.33359	19.32	0.99882947210567463	0.95892	0.96642	0.70171	D	AEFDGBCI	0.691907	0.65175	D	0.470044653731836	0.65348	4.811318	0.349691710722272	0.58490	4.019675	0.999999999999999	0.74766	0.651	0.46895	0	0.53679	0.11191	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	4.43	4.43	0.52967	4.910000	0.63017	0.729000	0.21072	0.596000	0.33519	1.000000	0.71638	0.274000	0.24066	0.198000	0.21837	0.0:1.0:0.0:0.0	17.021	0.86308	586	0.69252	Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	559.43	33	chr3	38005835	.	C	T	559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.43;DP=352;ExcessHet=0;FS=4.181;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-0.441;SOR=1.327	GT:AD:DP:GQ:PL	0/1:26,23:49:99:571,0,623	9	0	1	0
chr3	40529376	40529376	C	G	exonic	ZNF621	.	nonsynonymous SNV	ZNF621:NM_001098414:exon3:c.C82G:p.L28V,ZNF621:NM_001287245:exon3:c.C82G:p.L28V,ZNF621:NM_198484:exon3:c.C82G:p.L28V	.	427	1088	7	0	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.010712446936	0.0002	0.000798722	0.0006	0	0	0	0	0.0002	0.0022	0.0032	0.0004851	75	154602	rs376456065	0.0003	0.0003	0.0002	0.0004	0.0027	0.0003	0.0003	0.0024	0.0023	0	0.0002	3.827e-05	0	0	0.0016	0.0001	0.0003	0.0027	0.0002	0.0002	0.0002	0.0002	0.0033	0.0001	0.0001	0.0021	0.0017	0	0	0	0	0	0	0	0.0001	0.0005	0.0033	0.0	0.91255	D	0.001	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	0.011179	0.29634	N	0.000000	1	0.81001	D	3.23	0.89537	M	2.2	0.18570	T	-2.35	0.55662	N	0.584	0.76666	-0.7459	0.58149	T	0.213	0.57428	T	10	0.0076625645	0.00174	T	0.010712	0.27557	T	0.299	0.61955	.	.	0.426551566703	0.42274	0.14027445616601236	0.13950	0.730665930578	0.62717	0.406703770161	0.26000	T	0.210593	0.57112	T	-0.380526	0.03092	T	-0.323679	0.42169	T	0.157648595459616	0.17696	T	0.613939	0.25008	T	0.40257168	0.60911	0.42027098	0.65995	0.40257168	0.60911	0.42027098	0.65995	-11.512	0.82393	D	.	.	0.447	0.62048	A	.;.;.;.	.;.;.;.	3.740491	0.53561	23.4	0.99838491595105272	0.91886	0.72643	0.35549	D	AEFBI	0.197623	0.32453	N	0.59922821216595	0.73126	5.91553	0.412644705101181	0.62352	4.449177	0.999709341997196	0.41986	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.46	3.46	0.38718	1.569000	0.36037	2.316000	0.32105	0.594000	0.32500	0.694000	0.28569	0.983000	0.30585	0.959000	0.51448	0.0:1.0:0.0:0.0	13.239	0.59418	734	0.53889	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;.;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.003788	0.05	1366.43	33	chr3	40529376	.	C	G	1366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.264;DP=439;ExcessHet=0;FS=5.304;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-2.256;SOR=0.439	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1378,0,1623	9	0	1	0
chr3	45035591	45035591	C	A	exonic	CLEC3B	.	nonsynonymous SNV	CLEC3B:NM_001308394:exon3:c.C150A:p.H50Q,CLEC3B:NM_003278:exon3:c.C276A:p.H92Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195	0.116377604813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.039	0.51112	D	0.998	0.73220	D	0.983	0.75793	D	0.000000	0.84330	D	0.051541	1	0.81001	D	1.785	0.46417	L	2.31	0.16794	T	-5.84	0.88431	D	0.823	0.81857	-1.1170	0.02531	T	0.078	0.30982	T	10	0.7308731	0.74289	D	0.116378	0.79584	D	0.195	0.47612	0.408	0.44230	0.435699915968	0.43186	0.5056137897410365	0.50483	1.6991376128	0.90257	0.690636754036	0.65798	T	0.315389	0.68700	T	-0.0116751	0.50031	T	-0.254547	0.49367	T	0.995906591415405	0.88288	D	0.766923	0.51656	T	0.9379578	0.95039	0.92396295	0.96676	0.9379578	0.95039	0.92396295	0.96677	-10.258	0.75442	D	.	.	0.732	0.74282	P	.;.	.;.	2.727695	0.35692	19.97	0.99123421885678953	0.53063	0.83308	0.42435	D	AEFDBCI	0.826796	0.74621	D	0.285638102978876	0.55418	3.706074	0.226226242724648	0.51307	3.314391	0.999998155553857	0.74766	0.549168	0.22868	0	0.541168	0.11318	0	0.503968	0.08637	0	0.616125	0.45549	0	.	.	4.53	2.64	0.30504	0.806000	0.26786	-1.949000	0.04448	-0.190000	0.09434	1.000000	0.71638	0.000000	0.08366	0.948000	0.49324	0.0:0.8271:0.0:0.1729	10.598	0.44542	526	0.73951	C-type lectin-like|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1864.43	39	chr3	45035591	.	C	A	1864.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=448;ExcessHet=0;FS=3.192;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=1.8;SOR=1.002	GT:AD:DP:GQ:PL	0/1:56,75:131:99:1876,0,1201	9	0	1	0
chr3	48268707	48268707	G	A	exonic	ZNF589	.	nonsynonymous SNV	ZNF589:NM_016089:exon4:c.G1016A:p.R339Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00218424383873	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.788e-06	4.788e-06	1.361e-06	8.25e-06	2.987e-05	1.99e-06	1.28e-06	8.4e-07	5.7e-07	2.987e-05	2.236e-05	0	2.519e-05	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.38407	T	0.099	0.38891	T	0.467	0.36479	P	0.258	0.39350	B	.	.	.	.	1	0.20796	N	1.015	0.25427	L	2.18	0.18875	T	-2.62	0.56301	D	0.048	0.01999	-1.0444	0.16000	T	0.040	0.17319	T	9	0.089269936	0.15449	T	0.002184	0.04098	T	0.019	0.03383	0.449	0.50957	0.0611884634855	0.05136	0.011943755900371854	0.01154	0.183354818329	0.20623	0.254465401173	0.04252	T	0.09394	0.39314	T	-0.331995	0.05961	T	-0.714665	0.05057	T	0.30372878909111	0.25158	T	.	.	.	0.05531468	0.10732	0.0554481	0.09729	0.05531468	0.10732	0.0554481	0.09728	-5.9	0.45435	T	.	.	0.333	0.55445	B	.	.	0.284431	0.06609	3.105	0.9820830585557766	0.39184	0.00876	0.03464	N	ALL	0.024138	0.01448	N	-0.929467112883569	0.10157	0.4840668	-1.1354112001334	0.07033	0.3406091	0.999999629279878	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	1.07	0.179	0.14347	1.173000	0.31529	-7.361000	0.01173	-1.225000	0.01333	0.005000	0.17040	0.000000	0.08366	0.004000	0.06068	0.4683:0.0:0.5317:0.0	3.817	0.08334	21	0.98493	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	384.43	38	chr3	48268707	.	G	A	384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.836;DP=421;ExcessHet=0;FS=59.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.58;ReadPosRankSum=0.575;SOR=6.598	GT:AD:DP:GQ:PL	0/1:57,27:84:99:396,0,1309	9	0	1	0
chr3	49699104	49699104	C	T	exonic	RNF123	.	nonsynonymous SNV	RNF123:NM_022064:exon10:c.C763T:p.R255C	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	.	0.0010	0.00678914	0.0024	9.879e-05	0.0002	0.0270	0.0003	0.0005	0.0011	0.0010	0.0022574	349	154602	rs77308703	0.0011	0.0011	0.0011	0.0011	0.0252	0.0011	0.0011	0.0239	0.0234	0	0.0001	0	0.0252	0.0002	0.0002	0.0004	0.0013	0.0015	0.0013	0.0013	0.0013	0.0012	0.0249	0.0011	0.0011	0.0214	0.0201	9.622e-05	0	0.0001	0.0006	0.0249	0.0003	0	0.0006	0.0005	0.0023	0.002	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.818	0.58969	P	0.001021	0.40652	N	0.169409	0.999995	0.58761	D	0.975	0.24501	L	0.07	0.61677	T	-4.79	0.85994	D	0.736	0.77319	-0.6819	0.61284	T	0.132	0.44425	T	10	0.01085943	0.00240	T	.	.	.	0.421	0.73005	.	.	0.36413608308	0.36018	0.7467684133121505	0.74622	2.53311586542	0.97788	0.669216513634	0.62726	T	0.242668	0.61145	T	-0.181703	0.23483	T	-0.0141839	0.69412	D	0.0920635271677067	0.11460	T	0.973303	0.92154	D	0.325794	0.55124	0.30272943	0.56304	0.325794	0.55124	0.30272943	0.56303	-10.95	0.79383	D	.	.	0.326	0.54954	B	.;.	.;.	6.006670	0.94323	34	0.99895986615831722	0.96895	0.98201	0.80484	D	AEFBIJ	0.775792	0.70910	D	0.492682553541549	0.66661	4.979118	0.45270804668671	0.64890	4.75508	0.999968023995608	0.48965	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.51	3.65	0.40985	4.597000	0.60770	7.648000	0.63548	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1411:0.7233:0.1356:0.0	11.539	0.49905	1	0.99630	.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.015244	0.000000	0.05	648.43	34	chr3	49699104	.	C	T	648.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.782;DP=418;ExcessHet=0;FS=6.982;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=0.683;SOR=0.228	GT:AD:DP:GQ:PL	0/1:33,32:65:99:660,0,790	9	0	1	0
chr3	52221743	52221743	C	T	exonic	TLR9	.	nonsynonymous SNV	TLR9:NM_017442:exon2:c.G2573A:p.G858E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0160883050402	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.01	0.65728	D	0.544	0.37968	P	0.079	0.28749	B	0.209681	0.03378	N	1.856050	1	0.08975	N	2.76	0.80626	M	1.79	0.25509	T	-2.25	0.50337	N	0.3	0.33904	-1.0179	0.24398	T	0.042	0.18160	T	10	0.18391663	0.33741	T	0.016088	0.37172	T	0.068	0.19811	0.375	0.38830	0.589546583947	0.58630	0.6669770428317455	0.66635	0.727271124552	0.62562	0.354756116867	0.18620	T	0.364322	0.72993	T	-0.113871	0.34130	T	-0.401344	0.33228	T	0.535715281963348	0.33945	D	0.825817	0.48860	T	0.054277245	0.10392	0.0760352	0.16798	0.054277245	0.10391	0.0760352	0.16798	-6.69	0.51735	T	.	.	0.107	0.20196	B	.	.	1.902449	0.24163	16.29	0.99114032999827495	0.52802	0.09727	0.15418	N	AEFDGBI	0.118765	0.23209	N	-0.678694206303335	0.16630	0.848966	-0.716763769146747	0.16544	0.8756581	0.992702667317265	0.32938	0.732398	0.92422	0	0.743671	0.97443	0	0.578056	0.29568	0	0.622129	0.49086	0	.	.	5.1	2.14	0.26518	0.422000	0.21016	1.660000	0.27894	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.151000	0.20341	0.1474:0.5309:0.1439:0.1778	2.703	0.04836	163	0.93656	.	.	.	.	.	.	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	6006.14	38	chr3	52221743	.	C	T	6006.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.502;DP=834;ExcessHet=0.2348;FS=0.532;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.328;SOR=0.746	GT:AD:DP:GQ:PL	0/1:125,127:252:99:3172,0,3249	8	0	2	0
chr3	52752149	52752149	T	A	exonic	NEK4	.	nonsynonymous SNV	NEK4:NM_001193533:exon6:c.A884T:p.Q295L,NEK4:NM_001348412:exon7:c.A1151T:p.Q384L,NEK4:NM_001348413:exon7:c.A1151T:p.Q384L,NEK4:NM_001348414:exon7:c.A905T:p.Q302L,NEK4:NM_003157:exon7:c.A1151T:p.Q384L	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0505536125141	7.7e-05	0.000199681	0.0005	0	0	0.0010	0.0023	0.0004	0.0044	0.0002	0.0003946	61	154602	rs201270296	0.0003	0.0003	0.0003	0.0003	0.0013	0.0003	0.0003	0.0010	0.0009	0	0	0	0.0013	0.0040	0.0003	0.0002	0.0003	6.956e-05	0.0004	0.0004	0.0003	0.0005	0.0010	0.0003	0.0003	0.0004	0.0002	2.406e-05	0	0.0001	0	0.0010	0.0030	0.0034	0.0002	0.0005	0	0.002	0.72154	D	0.067	0.44302	T	0.215	0.38028	B	0.075	0.37221	B	0.353475	0.13780	N	0.682031	1	0.08975	N	2.535	0.73915	M	-0.66	0.73311	T	-3.65	0.69950	D	0.286	0.40765	-0.7950	0.55438	T	0.273	0.64474	T	10	0.0057556033	0.00128	T	0.050554	0.64291	D	0.156	0.40720	.	.	0.635663843862	0.63267	0.33334462099124845	0.33247	0.171022968336	0.19268	0.201875984669	0.00513	T	0.131517	0.46106	T	-0.269335	0.11832	T	-0.233771	0.51406	T	0.0895900686946352	0.11169	T	0.60194	0.22516	T	0.1914202	0.40768	0.13865988	0.33107	0.1914202	0.40768	0.13865988	0.33106	-2.732	0.07919	T	.	.	0.089	0.29533	B	.;.;.;.	.;.;.;.	0.383760	0.07557	4.208	0.91673819958225355	0.20964	0.08749	0.14632	N	AEFGBHCI	0.061214	0.11688	N	-0.792145819714951	0.13513	0.6662639	-0.872811053043539	0.12739	0.6570998	0.999993527969851	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.88	2.48	0.29194	0.796000	0.26646	-0.321000	0.09964	-0.163000	0.11536	0.018000	0.19461	0.000000	0.08366	0.006000	0.07323	0.0:0.1793:0.1658:0.6549	4.503	0.11281	30	0.98208	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	5268.14	34	chr3	52752149	.	T	A	5268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.224;DP=742;ExcessHet=0.2348;FS=0.522;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=1.23;SOR=0.621	GT:AD:DP:GQ:PL	0/1:119,131:250:99:3015,0,2819	8	0	2	0
chr3	53735481	53735481	G	A	exonic	CACNA1D	.	nonsynonymous SNV	CACNA1D:NM_001128839:exon20:c.G2729A:p.R910H,CACNA1D:NM_001128840:exon20:c.G2729A:p.R910H,CACNA1D:NM_000720:exon21:c.G2789A:p.R930H	Primary aldosteronism, seizures, and neurologic abnormalities, Autosomal dominant;Sinoatrial node dysfunction and deafness, Autosomal recessive	1	1517	4	0	0	4	0.00131666	.	.	.	496779	CACNA1D-related_disorder|not_specified|not_provided|Inborn_genetic_diseases	.|MedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.731	0.36479736466	0.0004	0.000399361	0.0005	0.0003	0.0003	0	0	0.0005	0.0011	0.0012	0.0004786	74	154602	rs115066564	0.0008	0.0008	0.0008	0.0008	0.0016	0.0007	0.0007	0.0013	0.0013	0.0001	0.0003	3.827e-05	2.519e-05	0	0.0005	0.0008	0.0005	0.0016	0.0004	0.0004	0.0004	0.0004	0.0014	0.0003	0.0003	0.0007	0.0005	0.0001	0	0.0005	0	0.0002	0	0.0034	0.0006	0	0.0014	0.031	0.45039	D	0.124	0.35710	T	0.654	0.90584	P	0.048	0.75793	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.53	0.73802	M	-4.38	0.97369	D	-3.6	0.69835	D	0.811	0.80669	1.054	0.98215	D	0.936	0.97910	D	10	0.20425305	0.36610	T	0.364797	0.92601	D	0.731	0.90589	.	.	0.941497090491	0.94088	0.7582315601097529	0.75771	2.10380895774	0.94866	0.729966163635	0.71501	T	0.777219	0.94086	D	0.137395	0.68076	D	0.384049	0.91574	D	0.0920287665636736	0.11456	T	0.965703	0.87317	D	0.32462347	0.55027	0.26156145	0.51935	0.35939956	0.57790	0.28132275	0.54112	-10.609	0.79162	D	0.17243724217418627	0.21793	0.340	0.56619	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.963549	0.82083	27.7	0.99950986138674369	0.99944	0.98939	0.88905	D	AEFBI	0.934939	0.92904	D	0.682723460901006	0.78502	6.884303	0.731960847184646	0.84804	8.395616	0.999999999998229	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	10.003000	0.99689	10.018000	0.83123	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.682	0.95964	661	0.61838	Ion transport domain;Ion transport domain;Ion transport domain;.;.;.;Ion transport domain;Ion transport domain;Ion transport 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	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2700.43	39	chr3	53735481	.	G	A	2700.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.454;DP=584;ExcessHet=0;FS=2.253;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=0.574;SOR=0.559	GT:AD:DP:GQ:PL	0/1:112,119:231:99:2712,0,2515	9	0	1	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	21306.0	161	chr3	75730451	.	T	G	21306.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.248;DP=1190;ExcessHet=22.563;FS=6.109;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.37;MQRankSum=-6.108;QD=18.26;ReadPosRankSum=1.56;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,100:166:99:0|1:75730450_C_T:4000,0,2409:75730450	0	0	10	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	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	.	.	.	.	.	.	.	.	0.2	379.75	94	chr3	75730611	.	G	T	379.75	.	AC=4;AF=0.2;AN=20;BaseQRankSum=1.22;DP=666;ExcessHet=1.5895;FS=30.378;InbreedingCoeff=-0.2547;MLEAC=4;MLEAF=0.2;MQ=56.6;MQRankSum=-6.063;QD=1.27;ReadPosRankSum=-2.301;SOR=6.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,6:70:52:.:.:52,0,2663:.	6	0	4	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3032.01	154	chr3	75736884	.	G	GA	3032.01	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.024;DP=1489;ExcessHet=22.563;FS=2.546;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.59;MQRankSum=-6.777;QD=2.12;ReadPosRankSum=0.738;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:163,27:190:99:.:.:212,0,6524:.	0	0	10	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	11377.0	152	chr3	75736891	.	G	A	11377.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.179;DP=1494;ExcessHet=22.563;FS=2.868;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.49;MQRankSum=-8.968;QD=7.73;ReadPosRankSum=0.917;SOR=0.514	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,45:202:99:0|1:75736891_G_A:1366,0,6433:75736891	0	0	10	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	11538.0	171	chr3	75736920	.	C	A	11538.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.484;DP=1551;ExcessHet=15.1594;FS=2.12;InbreedingCoeff=-0.8184;MLEAC=9;MLEAF=0.45;MQ=56.17;MQRankSum=-7.049;QD=8.32;ReadPosRankSum=-0.079;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,40:229:99:0|1:75736920_C_A:1111,0,7816:75736920	1	0	9	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	10802.1	180	chr3	75736928	.	C	T	10802.1	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.91;DP=1530;ExcessHet=15.1594;FS=2.159;InbreedingCoeff=-0.819;MLEAC=9;MLEAF=0.45;MQ=55.62;MQRankSum=-7.245;QD=7.92;ReadPosRankSum=0.071;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,37:219:99:0|1:75736920_C_A:1000,0,7531:75736920	1	0	9	0
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	7273.34	218	chr3	75737012	.	C	T	7273.34	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.282;DP=1438;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6901;MLEAC=8;MLEAF=0.4;MQ=53.79;MQRankSum=-5.048;QD=6.21;ReadPosRankSum=1.1;SOR=0.722	GT:AD:DP:GQ:PL	0/1:157,21:178:83:83,0,5470	2	0	8	0
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	10274.0	225	chr3	75737060	.	A	G	10274.0	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.615;DP=1524;ExcessHet=15.1594;FS=0;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.04;MQRankSum=-5.089;QD=7.54;ReadPosRankSum=0.861;SOR=0.708	GT:AD:DP:GQ:PL	0/1:128,55:183:99:1080,0,4947	1	0	9	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	18634.0	209	chr3	75737092	.	C	T	18634.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.903;DP=1554;ExcessHet=22.563;FS=3.439;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.93;MQRankSum=-7.091;QD=12.08;ReadPosRankSum=1.29;SOR=0.972	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,62:189:99:0|1:75737092_C_T:2161,0,5105:75737092	0	0	10	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	18621.0	209	chr3	75737094	.	T	A	18621.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.506;DP=1548;ExcessHet=22.563;FS=4.367;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.04;MQRankSum=-7.138;QD=12.06;ReadPosRankSum=1.29;SOR=0.995	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,59:186:99:0|1:75737092_C_T:2095,0,5135:75737092	0	0	10	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	17689.0	206	chr3	75737105	.	T	A	17689.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.706;DP=1528;ExcessHet=22.563;FS=6.432;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.66;MQRankSum=-8.798;QD=11.61;ReadPosRankSum=0.99;SOR=1.146	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,56:186:99:0|1:75737092_C_T:1960,0,5290:75737092	0	0	10	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	15026.0	179	chr3	75737127	.	A	C	15026.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.995;DP=1458;ExcessHet=22.563;FS=6.735;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.36;MQRankSum=-9.527;QD=10.36;ReadPosRankSum=0.724;SOR=1.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,53:183:99:0|1:75737092_C_T:1834,0,5299:75737092	0	0	10	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	8633.98	146	chr3	75737163	.	CCTACATTCT	C	8633.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.329;DP=1221;ExcessHet=15.1594;FS=11.508;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.32;MQRankSum=-10.1;QD=8.13;ReadPosRankSum=-1.292;SOR=1.482	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,31:143:99:0|1:75737092_C_T:965,0,4558:75737092	1	0	9	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	29055.0	242	chr3	75737519	.	G	A	29055.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=1.23;DP=1778;ExcessHet=22.563;FS=3.187;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=56.52;MQRankSum=-6.977;QD=17.01;ReadPosRankSum=0.822;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,83:163:99:1|0:75737511_A_T:2968,0,3063:75737511	0	0	10	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	33226.0	257	chr3	75737590	.	A	G	33226.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.639;DP=2000;ExcessHet=22.563;FS=0.523;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.83;MQRankSum=-11.54;QD=16.75;ReadPosRankSum=1.09;SOR=0.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,97:204:99:0|1:75737590_A_G:3747,0,4181:75737590	0	0	10	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	36674.0	275	chr3	75737608	.	T	C	36674.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.136;DP=2142;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.69;MQRankSum=-12.91;QD=17.15;ReadPosRankSum=0.045;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,107:229:99:0|1:75737590_A_G:4126,0,4801:75737590	0	0	10	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	37943.0	274	chr3	75737622	.	T	A	37943.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.327;DP=2188;ExcessHet=22.563;FS=0;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=53.99;MQRankSum=-12.64;QD=17.41;ReadPosRankSum=-0.408;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,104:231:99:0|1:75737590_A_G:3985,0,5020:75737590	0	0	10	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	36785.0	278	chr3	75737651	.	G	A	36785.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.29;DP=2144;ExcessHet=22.563;FS=1.096;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=54.76;MQRankSum=-11.17;QD=17.26;ReadPosRankSum=-0.326;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,99:223:99:0|1:75737590_A_G:3784,0,4909:75737590	0	0	10	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	34235.0	265	chr3	75737676	.	A	T	34235.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.48;DP=2005;ExcessHet=22.563;FS=1.748;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=55.4;MQRankSum=-9.806;QD=17.19;ReadPosRankSum=-0.156;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,97:212:99:0|1:75737590_A_G:3727,0,4537:75737590	0	0	10	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	17386.0	242	chr3	75737840	.	C	T	17386.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.182;DP=1956;ExcessHet=22.563;FS=9.369;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=59.03;MQRankSum=-4.376;QD=9.13;ReadPosRankSum=0.509;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,47:227:99:0|1:75737814_C_T:1368,0,6795:75737814	0	0	10	0
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	7087.02	239	chr3	75737881	.	T	C	7087.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.85;DP=1825;ExcessHet=15.1594;FS=14.307;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.68;MQRankSum=-7.284;QD=4.57;ReadPosRankSum=-3.421;SOR=1.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,28:209:99:0|1:75737881_T_C:580,0,7288:75737881	1	0	9	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5707.98	242	chr3	75737891	.	G	GAAAT	5707.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.2;DP=1739;ExcessHet=15.1594;FS=17.592;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.4;MQRankSum=-8.904;QD=3.76;ReadPosRankSum=-3.116;SOR=1.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,27:216:99:0|1:75737881_T_C:528,0,7727:75737881	1	0	9	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	5470.98	235	chr3	75737893	.	A	ACTT	5470.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=0.239;DP=1724;ExcessHet=15.1594;FS=15.802;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=58.33;MQRankSum=-9.24;QD=3.64;ReadPosRankSum=-2.613;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,26:214:99:0|1:75737881_T_C:493,0,7730:75737881	1	0	9	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	3887.02	246	chr3	75738008	.	C	T	3887.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.756;DP=2102;ExcessHet=15.1594;FS=4.482;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.35;MQRankSum=-11.6;QD=2.07;ReadPosRankSum=2.5;SOR=1.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,25:279:99:0|1:75737994_T_C:285,0,10496:75737994	1	0	9	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	2285.98	232	chr3	75738053	.	C	A	2285.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-1.929;DP=1985;ExcessHet=10.3881;FS=3.371;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=57.37;MQRankSum=-10.29;QD=1.38;ReadPosRankSum=-1.279;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:261,23:284:99:0|1:75737994_T_C:180,0,10890:75737994	2	0	8	0
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	709.64	205	chr3	75738071	.	A	G	709.64	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.6;DP=1813;ExcessHet=1.5895;FS=5.078;InbreedingCoeff=-0.2392;MLEAC=4;MLEAF=0.2;MQ=57.56;MQRankSum=-9.725;QD=0.92;ReadPosRankSum=-1.306;SOR=1.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,21:274:99:0|1:75737994_T_C:120,0,10560:75737994	6	0	4	0
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	499.56	201	chr3	75738074	.	G	A	499.56	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.07;DP=1768;ExcessHet=0.7463;FS=7.183;InbreedingCoeff=-0.174;MLEAC=3;MLEAF=0.15;MQ=57.65;MQRankSum=-9.299;QD=0.85;ReadPosRankSum=-1.531;SOR=1.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,19:268:48:0|1:75737994_T_C:48,0,10398:75737994	7	0	3	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	2104.98	122	chr3	75739165	.	C	T	2104.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=0.256;DP=1095;ExcessHet=10.3881;FS=18.333;InbreedingCoeff=-0.6665;MLEAC=8;MLEAF=0.4;MQ=56.69;MQRankSum=-7.997;QD=2.39;ReadPosRankSum=-0.323;SOR=1.354	GT:AD:DP:GQ:PL	0/1:86,19:105:99:204,0,2458	2	0	8	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	4366.02	105	chr3	75739283	.	G	T	4366.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.947;DP=845;ExcessHet=15.1594;FS=2.771;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=54.79;MQRankSum=-4.843;QD=5.88;ReadPosRankSum=0.209;SOR=0.934	GT:AD:DP:GQ:PL	0/1:63,20:83:99:302,0,1853	1	0	9	0
chr3	86968848	86968848	T	G	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A679C:p.M227L,VGLL3:NM_001320494:exon3:c.A520C:p.M174L,VGLL3:NM_016206:exon3:c.A679C:p.M227L	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00561380086891	0.0027	0.000199681	0.0032	0.0003	0.0008	0	0.0086	0.0046	0.0033	0.0001	0.0029172	451	154602	rs193078775	0.0030	0.0030	0.0030	0.0030	0.0034	0.0029	0.0029	0.0033	0.0033	0.0003	0.0008	0.0002	0	0.0072	0.0003	0.0034	0.0026	0.0002	0.0029	0.0029	0.0029	0.0029	0.0046	0.0026	0.0026	0.0042	0.0040	0.0003	0	0.0016	0	0	0.0075	0	0.0046	0.0028	0.0002	0.991	0.01979	T	0.763	0.04587	T	0.0	0.02946	B	0.0	0.01387	B	0.002537	0.36389	N	0.272209	0.947882	0.26586	N	1.25	0.31749	L	1.03	0.40749	T	-0.65	0.18877	N	0.34	0.38129	-1.0498	0.14453	T	0.061	0.25383	T	10	0.00762257	0.00173	T	0.005614	0.14500	T	0.067	0.19503	0.316	0.29258	0.0666544352282	0.05500	0.14849506141784974	0.14771	0.111437477428	0.12582	0.509638547897	0.40171	T	0.026249	0.19463	T	-0.534016	0.00364	T	-0.53232	0.19055	T	0.00207298978474477	0.00021	T	0.717028	0.32946	T	0.118414186	0.27899	0.058118593	0.10685	0.118414186	0.27899	0.058118593	0.10684	-2.084	0.03516	T	.	.	0.079	0.10691	B	.;.	.;.	0.716028	0.10848	7.527	0.72023615747022662	0.09829	0.78950	0.39033	D	AEFDGBI	0.156390	0.28174	N	-0.617299083432224	0.18425	0.9564431	-0.511636883575809	0.21837	1.183219	0.999999308230212	0.74766	0.833774	0.99917	0	0.573888	0.26702	0	0.0	0.00061	3	0.714379	0.83352	0	.	.	5.81	-3.14	0.04928	-0.136000	0.10384	-0.371000	0.09606	0.644000	0.52426	0.965000	0.33920	0.153000	0.23196	0.997000	0.79791	0.0:0.0603:0.5472:0.3925	11.713	0.50898	606	0.67383	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1122.43	35	chr3	86968848	.	T	G	1122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.642;DP=450;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.57;ReadPosRankSum=0.43;SOR=0.634	GT:AD:DP:GQ:PL	0/1:75,56:131:99:1134,0,1952	9	0	1	0
chr3	98354008	98354008	A	C	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.A155C:p.E52A	.	429	1084	8	1	0	10	0.00459137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00140944196157	0.0005	0.000599042	0.0009	0.0002	0.0010	0	0	0.0013	0	0.0002	0.0008085	125	154602	rs78965394	0.0006	0.0006	0.0005	0.0006	0.0104	0.0005	0.0005	0.0083	0.0075	0.0002	0.0011	0.0035	0	0	0.0104	0.0005	0.0012	0.0002	0.0007	0.0008	0.0007	0.0008	0.0023	0.0006	0.0006	0.0017	0.0015	0.0002	0	0.0023	0.0029	0	0	0.0068	0.0007	0.0033	0.0004	0.002	0.72154	D	0.003	0.76473	D	0.403	0.34918	B	0.371	0.43568	B	0.005811	0.32491	U	0.000000	0.999999	0.08975	N	1.36	0.34107	L	5.31	0.01086	T	-4.45	0.77717	D	0.265	0.30004	-1.0006	0.29746	T	0.007	0.02598	T	10	0.00875169	0.00198	T	0.001409	0.02088	T	0.131	0.35738	.	.	0.197625483188	0.19356	0.26452313262500454	0.26365	0.0122577980049	0.01168	0.243384540081	0.03103	T	0.010821	0.09727	T	-0.45709	0.01025	T	-0.496831	0.22677	T	0.0866761713187232	0.10819	T	0.445455	0.12454	T	0.3980649	0.60598	0.36761248	0.62067	0.3980649	0.60599	0.36761248	0.62067	-6.311	0.48809	T	.	.	0.402	0.59694	A	.	.	2.566532	0.33247	19.28	0.99068172431392332	0.51645	0.32527	0.24607	N	AEFI	0.158955	0.28468	N	-0.300306574426165	0.29137	1.613155	-0.372714881764971	0.25814	1.421915	0.698546500615225	0.22669	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.77	4.77	0.60425	2.440000	0.44513	.	.	0.681000	0.82415	0.007000	0.17678	0.987000	0.30940	0.001000	0.02609	1.0:0.0:0.0:0.0	12.544	0.55536	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.014099	0.010101	0.021739	0.008772	0.000000	0.034483	0.006098	0.003788	0.05	2597.43	34	chr3	98354008	.	A	C	2597.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.929;DP=574;ExcessHet=0;FS=2.291;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-0.203;SOR=0.855	GT:AD:DP:GQ:PL	0/1:104,115:219:99:2609,0,2425	9	0	1	0
chr3	100290685	100290685	C	T	exonic	TBC1D23	.	nonsynonymous SNV	TBC1D23:NM_001199198:exon5:c.C584T:p.S195F,TBC1D23:NM_018309:exon5:c.C584T:p.S195F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0167937683232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.23905	T	0.287	0.21210	T	0.859	0.48618	P	0.332	0.46509	B	0.000031	0.55875	D	0.193206	1	0.81001	D	2.28	0.64929	M	2.82	0.10871	T	-1.84	0.43149	N	0.889	0.88909	-1.1846	0.00306	T	0.041	0.17446	T	9	0.68793106	0.71676	D	0.016794	0.38210	T	0.202	0.48754	0.372	0.38340	0.444305618086	0.44052	0.5312116502510886	0.53045	0.287450904415	0.31146	0.812330424786	0.83848	D	0.06164	0.31707	T	0.140226	0.68347	D	-0.0363511	0.67945	D	0.782633006572723	0.45216	D	0.971303	0.90539	D	0.17212999	0.37886	0.13338578	0.31985	0.17212999	0.37885	0.13338578	0.31984	-9.54	0.71107	D	.	.	0.141	0.34949	B	.;.;.	.;.;.	4.503307	0.70449	25.5	0.99781693020277962	0.86867	0.97454	0.74853	D	AEFBHI	0.633106	0.61347	D	0.551340984464265	0.70165	5.46147	0.625396666794186	0.76788	6.556263	0.99999906435302	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	5.967000	0.70114	7.684000	0.65448	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9295:0.0:0.0705	13.631	0.61667	498	0.76166	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	640.43	33	chr3	100290685	.	C	T	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.84;DP=368;ExcessHet=0;FS=4.003;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.103;SOR=0.277	GT:AD:DP:GQ:PL	0/1:23,31:54:99:652,0,573	9	0	1	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	1170.79	50	chr3	100775333	.	T	C	1170.79	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.379;DP=401;ExcessHet=15.1594;FS=290.87;InbreedingCoeff=-0.7983;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.26;ReadPosRankSum=0.5;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:17,12:29:99:0|1:100775333_T_C:169,0,219:100775333	1	0	9	0
chr3	108916115	108916115	T	C	exonic	GUCA1C	.	nonsynonymous SNV	GUCA1C:NM_001363884:exon3:c.A454G:p.T152A	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0139641451415	0.0005	0.000399361	0.0011	0.0002	0.0013	0	0.0002	0.0015	0.0022	0.0008	0.0010543	163	154602	rs201266111	0.0011	0.0011	0.0011	0.0012	0.0050	0.0011	0.0011	0.0036	0.0031	0.0004	0.0018	0.0085	0	1.872e-05	0.0050	0.0011	0.0014	0.0008	0.0012	0.0012	0.0012	0.0011	0.0016	0.0010	0.0010	0.0011	0.0010	0.0002	0.0197	0.0016	0.0086	0	0	0	0.0012	0.0057	0.0006	0.045	0.40832	D	0.351	0.19480	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	-0.16	0.65378	T	-0.22	0.10480	N	0.056	0.03283	-0.9838	0.34116	T	0.103	0.37844	T	8	0.004726976	0.00099	T	0.013964	0.33748	T	0.056	0.15993	.	.	0.0762999501168	0.06990	.	.	.	.	.	.	.	.	.	.	-0.626544	0.00100	T	-0.680027	0.06982	T	0.00161427654136569	0.00016	T	0.193481	0.02080	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.09239	B	.;.	.;.	-0.452114	0.02026	0.182	0.36907137052945782	0.02401	0.01791	0.05598	N	AEFBI	0.056173	0.10363	N	-1.63764120244788	0.01088	0.0472323	-1.77910658445067	0.00828	0.03699592	0.310268447475888	0.19279	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.26	-8.51	0.00804	-1.373000	0.02675	-5.303000	0.01769	-1.785000	0.00646	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.4304:0.1762:0.2291:0.1643	0.895	0.01181	799	0.44747	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3315.14	33	chr3	108916115	.	T	C	3315.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.23;DP=571;ExcessHet=0.2348;FS=2.526;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=0.935;SOR=0.562	GT:AD:DP:GQ:PL	0/1:66,67:133:99:1667,0,1515	8	0	2	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P,GAP43:NM_001130064:exon3:c.G322C:p.A108P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.0138723661589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	0.0001	6.814e-06	5.506e-06	0.0002	2.9e-06	2.1e-06	2.62e-06	1.69e-06	0	0	0	0	0	0.0002	6.304e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.116	0.48594	T	0.371	0.34093	B	0.27	0.39872	B	0.026388	0.25927	N	0.380184	1	0.08975	N	1.935	0.51832	L	0.81	0.48460	T	-1.44	0.36385	N	0.115	0.13055	-0.9747	0.36191	T	0.114	0.40559	T	10	0.13199726	0.25123	T	0.013872	0.33594	T	0.066	0.19193	0.401	0.43081	0.482646159919	0.47895	0.13216878396780574	0.13141	0.27922568898	0.30403	0.315461575985	0.12734	T	0.20433	0.56307	T	-0.115191	0.33911	T	-0.403241	0.33007	T	0.650220215320587	0.38471	D	0.59824	0.32735	T	0.29186904	0.52166	0.3267469	0.58579	0.29186904	0.52166	0.3267469	0.58578	-5.243	0.39376	T	.	.	0.142	0.35247	B	.;.	.;.	2.241624	0.28623	17.86	0.9963283397870325	0.76142	0.37808	0.25845	N	AEFBI	0.528119	0.54978	D	-0.309158098030579	0.28799	1.591533	-0.403764697157965	0.24886	1.36534	1.52725511360971E-4	0.05650	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	4.62	3.74	0.42108	2.136000	0.41744	2.479000	0.32931	0.676000	0.76740	0.127000	0.23295	0.120000	0.22892	0.064000	0.16252	0.1644:0.1547:0.6809:0.0	6.183	0.19696	935	0.14827	Neuromodulin (GAP-43), C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	184.11	82	chr3	115676196	.	G	C	184.11	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.041;DP=817;ExcessHet=4.5998;FS=209.673;InbreedingCoeff=-0.4297;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=0.792;SOR=10.138	GT:AD:DP:GQ:PL	0/1:52,19:71:25:25,0,1039	4	0	6	0
chr3	121488663	121488669	AATAGTA	-	exonic	POLQ	.	frameshift deletion	POLQ:NM_199420:exon16:c.4262_4268del:p.I1421Rfs*8	.	435	1070	15	2	0	19	0.00880037	.	.	.	969902	not_provided|Hereditary_breast_ovarian_cancer_syndrome|POLQ-related_disorder	MedGen:C3661900|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0043	0.00279553	0.0059	0.0010	0.0053	0	0.0076	0.0073	0.0078	0.0058	0.0011526	30	26028	rs546221341	0.0066	0.0065	0.0063	0.0068	0.0096	0.0064	0.0064	0.0076	0.0070	0.0013	0.0041	7.769e-05	0	0.0070	0.0096	0.0072	0.0058	0.0060	0.0055	0.0055	0.0057	0.0053	0.0087	0.0052	0.0051	0.0081	0.0079	0.0012	0.0471	0.0034	0.0006	0	0.0054	0.0068	0.0087	0.0038	0.0075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1307.39	36	chr3	121488662	.	CAATAGTA	C	1307.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.072;DP=477;ExcessHet=0;FS=1.86;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=2.09;SOR=0.452	GT:AD:DP:GQ:PL	0/1:50,35:85:99:1319,0,1994	9	0	1	0
chr3	121489615	121489615	T	A	exonic	POLQ	.	stopgain	POLQ:NM_199420:exon16:c.A3316T:p.K1106X	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802356	0.09314	N	0.919826	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.438	0.53796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151251	0.69385	D	-0.0205144	0.68995	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	4.810243	0.78248	26.9	0.94882219913965682	0.25715	0.11320	0.16556	N	AEFBI	0.066754	0.13088	N	-0.541884307530331	0.20739	1.095511	-0.917921788939895	0.11671	0.5960306	0.0100732165965555	0.11962	0.615465	0.37627	0	0.653731	0.59785	0	0.670488	0.60580	0	0.655142	0.61905	0	.	.	5.11	-3.71	0.04137	-0.018000	0.12508	-0.065000	0.12373	-0.883000	0.02445	0.000000	0.06391	0.004000	0.18990	0.002000	0.04165	0.0:0.2439:0.0:0.7561	11.558	0.50013	274	0.89249	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1392.43	36	chr3	121489615	.	T	A	1392.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=555;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=0.347;SOR=0.691	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1404,0,1626	9	0	1	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	993.31	120	chr3	121697608	.	C	T	993.31	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-2.669;DP=961;ExcessHet=7.0302;FS=290.798;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.85;SOR=11.255	GT:AD:DP:GQ:PL	0/1:49,30:79:99:150,0,676	0	0	7	3
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.45	1586.91	59	chr3	128055734	.	T	C	1586.91	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-1.356;DP=621;ExcessHet=15.1594;FS=117.441;InbreedingCoeff=-0.8095;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=2.85;ReadPosRankSum=0.678;SOR=9.795	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,11:47:99:0|1:128055734_T_C:155,0,1206:128055734	1	0	9	0
chr3	130421334	130421337	GGAT	-	exonic	COL6A5	.	frameshift deletion	COL6A5:NM_001278298:exon27:c.5011_5014del:p.G1671Sfs*28,COL6A5:NM_153264:exon27:c.5011_5014del:p.G1671Sfs*28	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	89.39	36	chr3	130421333	.	AGGAT	A	89.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.941;DP=356;ExcessHet=0;FS=38.472;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=0.014;SOR=4.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,10:44:99:0|1:130421333_AGGAT_A:101,0,1291:130421333	9	0	1	0
chr3	130421334	130421334	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	180.48	36	chr3	130421334	.	G	*	180.48	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.689;DP=368;ExcessHet=0.7463;FS=106.729;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=0.653;SOR=6.356	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,10:44:99:0|1:130421333_AGGAT_A:101,0,1291:130421333	9	0	1	0
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1438.56	46	chr3	130421335	.	G	*	1438.56	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-0.907;DP=433;ExcessHet=8.3924;FS=407.622;InbreedingCoeff=-0.7391;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.31;ReadPosRankSum=0.501;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,10:44:99:0|1:130421333_AGGAT_A:101,0,1291:130421333	6	0	1	3
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1438.09	47	chr3	130421337	.	T	*	1438.09	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0.036;DP=426;ExcessHet=8.3924;FS=409.477;InbreedingCoeff=-0.7391;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=4.34;ReadPosRankSum=0.651;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,10:44:99:0|1:130421333_AGGAT_A:101,0,1291:130421333	6	0	1	3
chr3	130421338	130421338	-	CACC	exonic	COL6A5	.	frameshift insertion	COL6A5:NM_001278298:exon27:c.5015_5016insCACC:p.P1673Tfs*10,COL6A5:NM_153264:exon27:c.5015_5016insCACC:p.P1673Tfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	448.28	47	chr3	130421338	.	T	TCACC	448.28	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-2.125;DP=412;ExcessHet=1.8123;FS=263.306;InbreedingCoeff=-0.4709;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.84;ReadPosRankSum=0.411;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,10:43:99:0|1:130421333_AGGAT_A:104,0,1269:130421333	5	0	1	4
chr3	141444232	141444232	C	T	exonic	ZBTB38	.	nonsynonymous SNV	ZBTB38:NM_001376164:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376166:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376176:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376180:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376183:exon3:c.C1844T:p.T615M,ZBTB38:NM_001376188:exon3:c.C1844T:p.T615M,ZBTB38:NM_001350100:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376119:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376127:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376152:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376157:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376162:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376163:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376168:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376172:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376175:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376179:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376181:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376184:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376185:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376186:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376187:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376189:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376190:exon4:c.C1844T:p.T615M,ZBTB38:NM_001376115:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376120:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376126:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376128:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376142:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376158:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376159:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376165:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376167:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376169:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376170:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376171:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376173:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376174:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376177:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376178:exon5:c.C1844T:p.T615M,ZBTB38:NM_001376182:exon5:c.C1844T:p.T615M,ZBTB38:NM_001350099:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376113:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376116:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376125:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376143:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376150:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376160:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376161:exon6:c.C1844T:p.T615M,ZBTB38:NM_001376112:exon7:c.C1844T:p.T615M,ZBTB38:NM_001376114:exon7:c.C1844T:p.T615M,ZBTB38:NM_001376117:exon7:c.C1844T:p.T615M,ZBTB38:NM_001376118:exon7:c.C1844T:p.T615M,ZBTB38:NM_001080412:exon8:c.C1844T:p.T615M,ZBTB38:NM_001376121:exon8:c.C1844T:p.T615M,ZBTB38:NM_001376122:exon8:c.C1844T:p.T615M,ZBTB38:NM_001376123:exon8:c.C1844T:p.T615M,ZBTB38:NM_001376124:exon8:c.C1844T:p.T615M	.	430	1073	19	0	0	19	0.00877598	.	.	.	2824982	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.023	.	0.0061	0.00479233	0.0058	0.0014	0.0064	0	0.0017	0.0085	0.0089	0.0013	0.0060866	941	154602	rs17787670	0.0078	0.0078	0.0080	0.0076	0.0196	0.0077	0.0076	0.0167	0.0156	0.0015	0.0074	0.0049	7.557e-05	0.0024	0.0196	0.0091	0.0084	0.0012	0.0063	0.0063	0.0065	0.0061	0.0110	0.0060	0.0058	0.0096	0.0091	0.0019	0	0.0110	0.0040	0	0.0013	0.0238	0.0096	0.0114	0.0006	0.048	0.40068	D	0.174	0.31730	T	0.798	0.44840	P	0.265	0.39681	B	0.737373	0.09805	N	0.887861	1	0.08975	N	2.015	0.55033	M	3.49	0.09075	T	-0.62	0.18248	N	0.193	0.24883	-1.0148	0.25400	T	0.016	0.06711	T	9	0.0034246743	0.00060	T	.	.	.	0.023	0.04649	.	.	0.0675242888579	0.06100	0.32186124454401943	0.32099	0.516426358361	0.49530	0.247026950121	0.03461	T	0.019916	0.15779	T	-0.580448	0.00191	T	-0.597155	0.13050	T	0.00580921883566317	0.00064	T	0.794521	0.43681	T	0.019174555	0.00444	0.034373514	0.02492	0.019174555	0.00443	0.034373514	0.02491	-4.801	0.34603	T	.	.	0.084	0.14706	B	.;.;.;.;.;.	.;.;.;.;.;.	2.491262	0.32145	18.95	0.96655113128652481	0.30603	0.48697	0.28265	N	AEFBI	0.125465	0.24198	N	-0.411639768226223	0.25060	1.357627	-0.492924193327864	0.22347	1.213381	0.999915155512818	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.69	2.68	0.30839	1.201000	0.31866	2.181000	0.31130	0.599000	0.40250	0.000000	0.06391	0.009000	0.19889	0.177000	0.21203	0.0:0.6666:0.2614:0.0719	9.729	0.39514	821	0.40814	.;.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.020141	0.030303	0.032609	0.011696	0.000000	0.008621	0.009146	0.003788	0.05	1813.43	41	chr3	141444232	.	C	T	1813.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.43;DP=508;ExcessHet=0;FS=2.666;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-0.072;SOR=0.908	GT:AD:DP:GQ:PL	0/1:89,81:170:99:1825,0,1977	9	0	1	0
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R,SLC33A1:NM_001363883:exon1:c.C353G:p.P118R,SLC33A1:NM_004733:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	1833.49	139	chr3	155853645	.	G	C	1833.49	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-3.101;DP=1064;ExcessHet=4.5998;FS=169.181;InbreedingCoeff=-0.4661;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.03;ReadPosRankSum=1.44;SOR=10.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,16:101:99:.:.:191,0,1725:.	3	0	6	1
chr3	156694056	156694056	C	G	exonic	TIPARP	.	nonsynonymous SNV	TIPARP:NM_001184717:exon3:c.C954G:p.N318K,TIPARP:NM_001184718:exon3:c.C954G:p.N318K,TIPARP:NM_015508:exon3:c.C954G:p.N318K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00374057626805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.85e-07	6.84e-07	1.363e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.116140	0.19205	N	0.578004	0.996089	0.23119	N	-1.155	0.00891	N	3.07	0.20387	T	0.19	0.05604	N	0.209	0.39962	-0.9697	0.37262	T	0.021	0.08639	T	10	0.06756523	0.09433	T	0.003741	0.08682	T	0.030	0.07022	0.443	0.49975	0.240615537116	0.23683	0.13651928786235068	0.13575	0.310699151363	0.33380	0.465640515089	0.34083	T	0.068415	0.33451	T	-0.338975	0.05459	T	-0.72469	0.04572	T	0.0358050905550757	0.02946	T	0.636336	0.25008	T	0.023534594	0.01101	0.038588546	0.03760	0.023534594	0.01101	0.038588546	0.03760	-2.713	0.07413	T	.	.	0.091	0.21466	B	.;.;.;.;.;.	.;.;.;.;.;.	0.718742	0.10876	7.552	0.67235920834590612	0.08294	0.68012	0.33643	D	AEFBI	0.089181	0.18077	N	-0.856562609384996	0.11889	0.5763189	-0.737321033342763	0.16035	0.84632	0.999638462238281	0.41205	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.36	-1.16	0.09181	0.056000	0.14136	0.472000	0.18721	-1.797000	0.00630	0.937000	0.32526	0.998000	0.33993	0.927000	0.46353	0.0:0.3926:0.2264:0.3811	7.040	0.24192	682	0.59757	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1154.43	35	chr3	156694056	.	C	G	1154.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.4;DP=419;ExcessHet=0;FS=1.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=-1.986;SOR=0.985	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1166,0,973	9	0	1	0
chr3	169779141	169779141	G	A	exonic	MYNN	.	nonsynonymous SNV	MYNN:NM_001185119:exon2:c.G640A:p.D214N,MYNN:NM_018657:exon3:c.G640A:p.D214N,MYNN:NM_001185118:exon4:c.G640A:p.D214N	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.0113094508569	.	0.00139776	0.0008	0	0	0	0	0.0001	0.0022	0.0055	0.0006921	107	154602	rs576001456	0.0003	0.0003	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0045	0	0	0	0	1.873e-05	0.0002	9.892e-06	0.0002	0.0050	0.0002	0.0002	0.0001	0.0002	0.0041	0.0001	8.71e-05	0.0027	0.0023	0	0	6.531e-05	0	0	0	0	2.94e-05	0	0.0041	0.102	0.36113	T	0.083	0.54541	T	0.247	0.45051	B	0.053	0.48239	B	0.000013	0.62929	D	0.068240	0.842016	0.35082	D	1.04	0.26193	L	3.1	0.09915	T	-0.9	0.24244	N	0.363	0.46742	-1.0621	0.11239	T	0.033	0.14377	T	10	0.0066139996	0.00150	T	0.011309	0.28804	T	0.152	0.39956	0.479	0.55823	0.401489600333	0.39766	0.45263182784069655	0.45181	0.557485522285	0.52367	0.510761618614	0.40329	T	0.026002	0.19333	T	-0.637269	0.00086	T	-0.686664	0.06585	T	0.0639642173444031	0.07777	T	0.914409	0.69449	D	0.079107724	0.18053	0.08312063	0.19025	0.079107724	0.18053	0.08312063	0.19025	-3.952	0.23083	T	.	.	0.216	0.44579	B	.;.;.	.;.;.	2.788729	0.36656	20.3	0.99836362188435446	0.91714	0.95763	0.66050	D	AEFGBI	0.479937	0.52187	N	0.113127880898415	0.47073	2.93832	0.207888241833423	0.50285	3.222135	0.999999994343393	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	4.761000	0.61939	11.859000	0.98275	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.280000	0.24017	0.0:0.0:1.0:0.0	19.078	0.93151	530	0.73653	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1987.43	34	chr3	169779141	.	G	A	1987.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.101;DP=476;ExcessHet=0;FS=2.87;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-1.446;SOR=0.492	GT:AD:DP:GQ:PL	0/1:69,87:156:99:1999,0,1653	9	0	1	0
chr3	179623956	179623956	G	A	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199958:exon5:c.G379A:p.E127K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	.	0.000998403	0.0007	0	0	0	0	0	0	0.0050	0.0005692	88	154602	rs540303121	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0051	0.0049	5.974e-05	0	0	5.042e-05	0	0.0002	0	0.0002	0.0055	0.0002	0.0002	3.856e-05	0.0003	0.0041	0.0001	8.715e-05	0.0027	0.0023	2.406e-05	0	0	0	0.0002	0	0	1.471e-05	0	0.0041	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998659	0.22008	N	.	.	.	.	.	.	-1.4	0.34596	N	0.184	0.19995	-0.9281	0.44415	T	0.100	0.37060	T	5	0.00621444	0.00140	T	.	.	.	0.042	0.11227	0.267	0.21418	0.241078983079	0.23725	.	.	.	.	.	.	.	0.030722	0.21710	T	-0.718597	0.00028	T	-0.803625	0.01813	T	0.0435167100443978	0.04332	T	0.505449	0.15971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.07036	B	.;.	.;.	-0.244546	0.02871	0.407	0.98364977688099753	0.40689	0.03447	0.08590	N	AEFBI	0.091057	0.18447	N	-0.571657612284894	0.19810	1.040	-0.747494824965521	0.15784	0.8318478	0.00356994469855629	0.10179	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.17	-2.48	0.06052	-0.270000	0.08614	-2.071000	0.04257	0.665000	0.62972	0.001000	0.13787	0.000000	0.08366	0.072000	0.16771	0.4378:0.2659:0.2963:0.0	5.532	0.16281	696	0.58299	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	455.43	36	chr3	179623956	.	G	A	455.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.301;DP=358;ExcessHet=0;FS=3.933;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=1.25;SOR=0.791	GT:AD:DP:GQ:PL	0/1:28,23:51:99:467,0,613	9	0	1	0
chr3	184097546	184097546	T	C	exonic	HTR3E	.	nonsynonymous SNV	HTR3E:NM_001256613:exon1:c.T17C:p.F6S,HTR3E:NM_198313:exon1:c.T17C:p.F6S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	.	.	0.00539137	0.0011	0.0268	0	0	0	0	0	0.0001	0.000414	64	154602	rs141876588	0.0005	0.0005	0.0006	0.0004	0.0200	0.0005	0.0005	0.0187	0.0182	0.0200	0.0006	0	0	0	0.0012	4.635e-06	0.0013	8.835e-05	0.0057	0.0057	0.0060	0.0054	0.0203	0.0054	0.0052	0.0192	0.0187	0.0203	0	0.0009	0	0	0	0	2.941e-05	0.0024	0	0.258	0.16683	T	0.409	0.14588	T	0.001	0.09854	B	0.001	0.06944	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-1.12	0.77593	T	0.01	0.06868	N	0.221	0.35194	-1.0001	0.29888	T	0.111	0.39982	T	8	0.002851963	0.00045	T	.	.	.	0.144	0.38394	.	.	0.324161360171	0.32030	.	.	.	.	.	.	.	5.85E-4	0.00238	T	-0.437452	0.01339	T	-0.38489	0.35148	T	0.0149488448467955	0.00319	T	0.204979	0.02394	T	0.051119152	0.09341	0.11011364	0.26547	0.051119152	0.09340	0.11011364	0.26546	-2.55	0.06132	T	.	.	0.104	0.18950	B	.;.	.;.	0.850572	0.12226	8.771	0.84094208226970979	0.15093	0.00648	0.02824	N	AEFDGI	0.026440	0.01987	N	-1.08929741401198	0.06840	0.3159968	-1.20546653196143	0.05821	0.2784674	0.863204157789369	0.25266	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.33	-6.38	0.01784	-0.501000	0.06479	-0.786000	0.07434	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.876000	0.41813	0.0:0.3301:0.4633:0.2066	6.139	0.19468	648	0.63242	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1571.43	36	chr3	184097546	.	T	C	1571.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.393;DP=462;ExcessHet=0;FS=0.615;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=-2.162;SOR=0.756	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1583,0,1777	9	0	1	0
chr3	184106595	184106595	T	G	exonic	HTR3E	.	nonsynonymous SNV	HTR3E:NM_001256614:exon7:c.T1351G:p.L451V,HTR3E:NM_198314:exon7:c.T1273G:p.L425V,HTR3E:NM_182589:exon8:c.T1318G:p.L440V,HTR3E:NM_198313:exon8:c.T1228G:p.L410V,HTR3E:NM_001256613:exon9:c.T1273G:p.L425V	.	417	1104	1	0	0	1	0.000452694	.	.	.	720318	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0068	0.00519169	0.0018	0.0174	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0.0016623	257	154602	rs149134892	0.0006	0.0006	0.0007	0.0005	0.0188	0.0006	0.0005	0.0176	0.0171	0.0188	0.0005	0.0006	0.0006	5.616e-05	0.0014	5.576e-05	0.0012	0.0002	0.0055	0.0055	0.0056	0.0054	0.0192	0.0052	0.0050	0.0181	0.0177	0.0192	0	0.0010	0.0006	0.0004	0	0	0.0001	0.0028	0	1.0	0.02372	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.038145	0.24318	N	0.297406	1	0.08975	N	-1.145	0.00921	N	-1.56	0.81815	D	1.19	0.01246	N	0.047	0.06059	-0.9205	0.45486	T	0.108	0.39075	T	10	0.0042127967	0.00084	T	.	.	.	0.181	0.45247	.	.	0.508875229312	0.50527	0.11231456028274468	0.11160	0.0571996759005	0.06330	0.317551642656	0.13049	T	9.42E-4	0.00494	T	-0.561691	0.00248	T	-0.565327	0.15880	T	0.0020096774383134	0.00021	T	0.0934907	0.00694	T	0.03469523	0.03943	0.03561062	0.02847	0.03469523	0.03943	0.03561062	0.02846	0.348	0.00325	T	.	.	0.054	0.00793	B	.;.;.;.;.	.;.;.;.;.	0.245752	0.06257	2.709	0.71916439245521535	0.09792	0.03953	0.09355	N	AEFDGI	0.031509	0.03385	N	-0.926962697143147	0.10215	0.4870712	-0.72343518805715	0.16377	0.8661002	0.00115866671105967	0.08283	0.487112	0.14033	0	0.55458	0.17659	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	3.98	3.11	0.34883	0.685000	0.25058	1.430000	0.26439	-0.852000	0.02700	0.944000	0.32806	0.943000	0.28828	0.454000	0.27984	0.0:0.1892:0.6146:0.1962	7.171	0.24895	675	0.60470	.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	3270.43	37	chr3	184106595	.	T	G	3270.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=723;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=-5.173;QD=8.94;ReadPosRankSum=0.725;SOR=0.59	GT:AD:DP:GQ:PL	0/1:220,146:366:99:3282,0,5322	9	0	1	0
chr3	186620845	186620845	G	A	exonic	AHSG	.	nonsynonymous SNV	AHSG:NM_001354573:exon6:c.G935A:p.R312H,AHSG:NM_001354571:exon7:c.G1022A:p.R341H,AHSG:NM_001354572:exon7:c.G1016A:p.R339H,AHSG:NM_001622:exon7:c.G1019A:p.R340H	.	.	.	.	.	.	.	.	.	.	.	697971	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0047	0.00339457	0.0014	0.0151	0.0007	0.0001	0	0.0001	0.0022	0	0.0012936	200	154602	rs77385737	0.0005	0.0005	0.0006	0.0005	0.0156	0.0005	0.0005	0.0145	0.0140	0.0156	0.0010	0.0001	0.0001	0	0.0014	7.554e-05	0.0012	8.115e-05	0.0044	0.0044	0.0044	0.0044	0.0148	0.0041	0.0040	0.0138	0.0134	0.0148	0.0099	0.0016	0	0.0004	0	0	8.819e-05	0.0047	0	0.135	0.26192	T	0.155	0.31936	T	0.002	0.09854	B	0.0	0.01387	B	0.944617	0.08330	N	0.972799	1	0.08975	N	0.92	0.23413	L	3.47	0.05188	T	0.58	0.02598	N	0.102	0.09207	-0.9661	0.37994	T	0.013	0.04890	T	10	0.0033490956	0.00058	T	.	.	.	0.016	0.02506	.	.	0.267299060538	0.26338	0.23434987345658723	0.23349	0.101798439067	0.11520	0.312247246504	0.12246	T	0.10897	0.42246	T	-0.744065	0.00019	T	-0.829251	0.01275	T	0.00101822422654718	0.00010	T	0.611639	0.23235	T	0.026932435	0.01815	0.031359978	0.01713	0.026887491	0.01805	0.031684197	0.01792	-3.958	0.23173	T	.	.	0.086	0.11510	B	.;.	.;.	0.096756	0.04991	1.550	0.91930871851643159	0.21255	0.07333	0.13354	N	AEFDBHCI	0.535869	0.55431	D	-1.05875432843384	0.07416	0.3444794	-1.09610216746966	0.07776	0.3796112	0.999994197236428	0.74766	0.594549	0.33734	0	0.563428	0.19063	0	0.597571	0.31856	0	0.542086	0.14980	0	.	.	4.63	1.7	0.23359	-0.296000	0.08323	-2.143000	0.04149	-0.849000	0.02733	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3211:0.508:0.1709:0.0	7.414	0.26205	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.004532	0.015152	0.005435	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	1544.43	45	chr3	186620845	.	G	A	1544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.254;DP=474;ExcessHet=0;FS=1.647;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-1.594;SOR=0.961	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1556,0,1027	9	0	1	0
chr3	189215379	189215379	A	G	exonic	TPRG1	.	nonsynonymous SNV	TPRG1:NM_198485:exon3:c.A298G:p.T100A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.00396224251525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.91255	T	0.395	0.92824	T	0.997	0.70673	D	0.994	0.82059	D	0.000000	0.84330	D	0.048698	0.90733	0.36321	D	1.635	0.41844	L	.	.	.	-2.67	0.76576	D	0.8	0.79599	-0.5493	0.66813	T	0.284	0.65616	T	9	0.31681705	0.53413	T	0.003962	0.09368	T	0.119	0.33137	0.248	0.18447	0.209622950755	0.20551	0.5584681905491429	0.55773	0.212166500798	0.23708	0.516721010208	0.41165	T	0.217898	0.58046	T	0.192747	0.73216	D	0.0390913	0.72868	D	0.986347794532776	0.77086	D	0.688231	0.39806	T	0.25867826	0.48918	0.26524368	0.52354	0.25867826	0.48918	0.26524368	0.52353	-9.237	0.69210	D	.	.	0.156	0.34427	B	.;.;.;.	.;.;.;.	2.764534	0.36273	20.2	0.98255447541959562	0.39612	0.83468	0.42583	D	AEFI	0.527592	0.54947	D	0.513219233406538	0.67871	5.139807	0.514433751200114	0.68961	5.292766	0.0324964747706146	0.14057	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	3.071000	0.49740	11.183000	0.88385	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	11.875	0.51822	967	0.07127	hSac2 domain;hSac2 domain;hSac2 domain;hSac2 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	.	.	.	.	.	.	.	.	0.05	793.43	34	chr3	189215379	.	A	G	793.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.516;DP=390;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=2.21;SOR=0.609	GT:AD:DP:GQ:PL	0/1:41,37:78:99:805,0,888	9	0	1	0
chr3	193364229	193364229	C	T	exonic	ATP13A5	.	nonsynonymous SNV	ATP13A5:NM_198505:exon2:c.G115A:p.A39T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00714901315296	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs776380026	4.105e-06	4.104e-06	1.361e-06	6.876e-06	0.0003	1.48e-06	9.7e-07	6.094e-05	2.522e-05	0	2.236e-05	0	0	0	0.0003	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.092	0.39954	T	0.001	0.07471	B	0.002	0.06944	B	0.607728	0.05683	N	1.220760	1	0.08975	N	0	0.06538	N	1.95	0.22474	T	-1.16	0.33798	N	0.149	0.15187	-0.9797	0.35071	T	0.020	0.08546	T	10	0.06341043	0.08256	T	0.007149	0.18951	T	0.066	0.19193	0.425	0.47021	0.0482279557977	0.04254	0.26862020817232124	0.26775	0.077068649369	0.08657	0.263166338205	0.05273	T	0.00631	0.05746	T	-0.337038	0.05596	T	-0.639043	0.09738	T	0.027309781983034	0.01589	T	0.557944	0.19432	T	0.061912466	0.12875	0.064871915	0.13067	0.061912466	0.12874	0.064871915	0.13067	-5.877	0.45238	T	.	.	0.082	0.15788	B	.;.	.;.	0.851676	0.12237	8.782	0.97903978500413913	0.36766	0.02246	0.06510	N	AEFI	0.045504	0.07449	N	-1.20009871668145	0.04999	0.2269029	-1.17290002337898	0.06365	0.3061844	1.17791232013356E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	-0.418	0.11728	0.209000	0.17231	-0.461000	0.09038	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.483:0.1328:0.3842	5.535	0.16296	469	0.78175	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	721.43	33	chr3	193364229	.	C	T	721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.06;DP=386;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.64;ReadPosRankSum=0.951;SOR=0.804	GT:AD:DP:GQ:PL	0/1:30,32:62:99:733,0,607	9	0	1	0
chr3	194652863	194652863	G	A	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon8:c.C1039T:p.R347W	.	418	1087	16	1	0	18	0.00821168	.	.	.	708746	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.063	0.00562252498956	0.0008	0.00179712	0.0018	0	0.0004	0.0053	0.0003	0.0008	0.0022	0.0068	0.0016041	248	154602	rs114485048	0.0013	0.0013	0.0011	0.0016	0.0125	0.0013	0.0012	0.0116	0.0112	0.0003	0.0006	0.0007	0.0125	0.0001	0.0017	0.0007	0.0012	0.0064	0.0009	0.0009	0.0008	0.0009	0.0050	0.0007	0.0007	0.0034	0.0029	0.0001	0	0.0008	0	0.0044	0.0004	0	0.0009	0.0014	0.0050	0.018	0.50676	D	0.035	0.52389	D	0.288	0.32258	B	0.013	0.16460	B	0.191137	0.16843	N	0.629990	1	0.08975	N	0	0.06538	N	2.47	0.14783	T	-1.91	0.44471	N	0.145	0.14622	-1.0241	0.22377	T	0.023	0.09832	T	10	0.004511744	0.00093	T	0.005623	0.14530	T	0.063	0.18251	.	.	0.199424873507	0.19547	0.2702288715631526	0.26935	0.111146524575	0.12538	0.187256425619	0.00180	T	0.011915	0.10560	T	-0.512927	0.00483	T	-0.506114	0.21714	T	0.021339974902978	0.00837	T	0.735426	0.35200	T	0.09848784	0.23231	0.11134898	0.26859	0.09848784	0.23231	0.11134898	0.26858	-6.078	0.46927	T	.	.	0.075	0.05360	B	.	.	2.509451	0.32405	19.03	0.99308237146486011	0.58906	0.71099	0.34868	D	AEFDGBI	0.245212	0.36619	N	-0.45538030160156	0.23558	1.265935	-0.379516748495026	0.25608	1.409328	0.953167897630978	0.28058	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.93	5.05	0.67566	2.970000	0.48932	2.038000	0.30286	0.618000	0.50648	0.124000	0.23245	0.016000	0.20520	0.019000	0.11356	0.0733:0.0:0.9267:0.0	14.296	0.65869	921	0.19240	Circularly permuted (CP)-type guanine nucleotide-binding (G) 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	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	2264.43	35	chr3	194652863	.	G	A	2264.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.682;DP=479;ExcessHet=0;FS=1.938;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=1.33;SOR=0.857	GT:AD:DP:GQ:PL	0/1:75,88:163:99:2276,0,1870	9	0	1	0
chr3	195778917	195778917	G	0	exonic	MUC4	.	.	.	.	505	587	363	23	44	453	0.25837	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	6257.75	303	chr3	195778917	.	G	*	6257.75	.	AC=4;AF=0.286;AN=14;BaseQRankSum=5.28;DP=4148;ExcessHet=0.1398;FS=2.47;InbreedingCoeff=0.1246;MLEAC=5;MLEAF=0.357;MQ=56.28;MQRankSum=1.44;QD=3.81;ReadPosRankSum=3.97;SOR=0.889	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,146:297:99:.:.:10194,709,3121:.	3	0	4	3
chr3	195778940	195779084	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	439	913	123	0	47	170	0.0631093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	7302.69	315	chr3	195778940	.	TGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	7302.69	.	AC=3;AF=0.167;AN=18;BaseQRankSum=3.25;DP=4473;ExcessHet=0.0135;FS=0.519;InbreedingCoeff=0.4302;MLEAC=3;MLEAF=0.167;MQ=54.24;MQRankSum=2.17;QD=4.36;ReadPosRankSum=-1.015;SOR=0.743	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,146:430:99:.:.:7795,859,6553:.	6	0	3	1
chr3	195779059	195779059	C	0	exonic	MUC4	.	.	.	.	665	654	51	57	95	260	0.112016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1828.17	151	chr3	195779059	.	C	*	1828.17	.	AC=1;AF=0.167;AN=6;DP=3116;ExcessHet=0;FS=0;InbreedingCoeff=0.2783;MLEAC=2;MLEAF=0.333;MQ=50.86;QD=5.79;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,264:316:99:0|1:195779059_C_*:11317,1837,1830:195779059	2	0	1	7
chr3	195779073	195779073	C	0	exonic	MUC4	.	.	.	.	620	794	16	3	89	111	0.0136646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	290.53	151	chr3	195779073	.	C	*	290.53	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.58;DP=2965;ExcessHet=0;FS=0;InbreedingCoeff=0.4743;MLEAC=1;MLEAF=0.083;MQ=50.51;MQRankSum=1.48;QD=1.04;ReadPosRankSum=-1.295;SOR=0.298	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,254:280:99:0|1:195779059_C_*:10430,881,286:195779059	5	0	1	4
chr3	195779074	195779074	A	0	exonic	MUC4	.	.	.	.	622	795	15	1	89	106	0.0105787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	164.53	151	chr3	195779074	.	A	*	164.53	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.65;DP=2962;ExcessHet=0;FS=0;InbreedingCoeff=0.4743;MLEAC=1;MLEAF=0.083;MQ=50.58;MQRankSum=1.48;QD=0.59;ReadPosRankSum=-1.293;SOR=0.288	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,254:277:99:0|1:195779059_C_*:10314,761,160:195779059	5	0	1	4
chr3	195779088	195779135	GGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.12445_12492del:p.I4149_T4164del	.	431	1083	6	0	2	8	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.363e-05	0.0003	4.981e-05	3.727e-05	0.0002	3.409e-05	3.114e-05	6.809e-05	4.363e-05	3.557e-05	0	0.0002	0.0002	4.514e-05	0	3.539e-05	0.0001	2.672e-05	0.0015	0.0080	0.0013	0.0016	0.0032	0.0013	0.0012	0.0018	0.0014	0.0009	0.0027	0.0014	0.0018	0.0032	0.0017	0	0.0016	0.0032	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1094.39	201	chr3	195779087	.	CGGTGACAGGAAGAGAGGTGGTGTGACCTGAGGATGCTGAGGAAGGGAT	C	1094.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.917;DP=3303;ExcessHet=0;FS=31.213;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.73;MQRankSum=-1.207;QD=2.41;ReadPosRankSum=-5.135;SOR=3.092	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,55:454:99:0|1:195778916_CGTGA_C:1106,0,16553:195778916	9	0	1	0
chr3	195779134	195779134	A	0	exonic	MUC4	.	.	.	.	446	1033	5	0	38	43	0.00241429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	75.33	282	chr3	195779134	.	A	*	75.33	.	AC=1;AF=0.1;AN=10;DP=3295;ExcessHet=0.2348;FS=21.545;InbreedingCoeff=-0.2903;MLEAC=1;MLEAF=0.1;MQ=58.6;QD=0.11;SOR=3.102	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,55:454:99:0|1:195778916_CGTGA_C:1106,0,16553:195778916	4	0	1	5
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	10308.7	261	chr3	195781583	.	T	*	10308.7	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.293;DP=3361;ExcessHet=1.5895;FS=5.126;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.125;MQ=56.7;MQRankSum=2.36;QD=6.55;ReadPosRankSum=-4.267;SOR=0.959	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:556,124:680:99:0|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:3578,0,22681:195781570	6	0	2	2
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	32786.1	191	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*	32786.1	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.448;DP=2955;ExcessHet=0.0072;FS=1.227;InbreedingCoeff=0.5833;MLEAC=3;MLEAF=0.15;MQ=53.45;MQRankSum=1.79;QD=17.97;ReadPosRankSum=2.39;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:2,124:528:99:1|0:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:21783,16350,18068:195781570	7	0	3	0
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	10065.1	198	chr3	195781628	.	C	*	10065.1	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.47;DP=2902;ExcessHet=0.3131;FS=1.185;InbreedingCoeff=0.2;MLEAC=8;MLEAF=0.4;MQ=56.37;MQRankSum=1.27;QD=4.25;ReadPosRankSum=1.56;SOR=0.79	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,402:528:99:1|1:195781570_GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_G:17920,1184,0:195781570	5	3	2	0
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	28885.0	201	chr3	195783084	.	A	*	28885.0	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.875;DP=4318;ExcessHet=0.0072;FS=2.198;InbreedingCoeff=0.5833;MLEAC=2;MLEAF=0.1;MQ=57.86;MQRankSum=6.76;QD=10.69;ReadPosRankSum=2.08;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:159,348:969:99:.:.:14980,7099,19609:.	8	0	2	0
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3231.45	189	chr3	195783086	.	A	*	3231.45	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.924;DP=4290;ExcessHet=1.8123;FS=1.145;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.125;MQ=57.7;MQRankSum=-8.752;QD=1.46;ReadPosRankSum=-4.574;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:630,348:983:99:.:.:8109,0,25965:.	6	0	2	2
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	50493.3	198	chr3	195783093	.	A	*	50493.3	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-0.724;DP=4359;ExcessHet=0.0072;FS=0.764;InbreedingCoeff=0.2982;MLEAC=2;MLEAF=0.143;MQ=57.96;MQRankSum=-0.518;QD=18.43;ReadPosRankSum=-0.862;SOR=0.57	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,348:988:99:.:.:33905,24000,25684:.	5	0	2	3
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1207.13	3	chr3	195787579	.	G	*	1207.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.431;DP=745;ExcessHet=0.0952;FS=7.978;InbreedingCoeff=0.3407;MLEAC=4;MLEAF=0.2;MQ=49.95;MQRankSum=0.967;QD=2.23;ReadPosRankSum=-0.967;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,100:101:99:1|1:195787522_A_G:4455,259,0:195787522	7	1	2	0
chr3	195787581	195787581	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	59.43	3	chr3	195787581	.	G	*	59.43	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.967;DP=741;ExcessHet=0.2065;FS=4.68;InbreedingCoeff=0.2001;MLEAC=4;MLEAF=0.2;MQ=34.84;MQRankSum=0.967;QD=0.12;ReadPosRankSum=-0.967;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,100:101:99:1|1:195787522_A_G:4455,259,0:195787522	7	1	2	0
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1013.42	34	chr3	195787584	.	A	*	1013.42	.	AC=4;AF=0.222;AN=18;DP=772;ExcessHet=0.0197;FS=7.978;InbreedingCoeff=0.4872;MLEAC=4;MLEAF=0.222;MQ=51.31;QD=1.89;SOR=1.245	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,100:101:99:1|1:195787522_A_G:4455,259,0:195787522	6	1	2	1
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	382.1	14	chr3	195787598	.	GCAT	*	382.1	.	AC=4;AF=0.2;AN=20;DP=738;ExcessHet=0.0135;FS=5.722;InbreedingCoeff=0.5208;MLEAC=4;MLEAF=0.2;MQ=44.27;QD=0.73;SOR=1.169	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,100:101:99:1|1:195787522_A_G:4455,259,0:195787522	7	1	2	0
chr3	196886088	196886088	C	T	exonic	SENP5	.	nonsynonymous SNV	SENP5:NM_001308045:exon2:c.C907T:p.H303Y,SENP5:NM_152699:exon2:c.C907T:p.H303Y	.	430	1072	20	0	0	20	0.00924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0055	0.00239617	0.0057	0.0011	0.0029	0	0.0014	0.0086	0.0055	0.0036	0.005595	865	154602	rs151102982	0.0057	0.0057	0.0057	0.0058	0.0144	0.0056	0.0056	0.0119	0.0110	0.0010	0.0046	0.0344	2.519e-05	0.0021	0.0144	0.0057	0.0063	0.0035	0.0053	0.0053	0.0055	0.0050	0.0062	0.0050	0.0048	0.0058	0.0056	0.0011	0.0713	0.0053	0.0360	0	0.0018	0.0136	0.0062	0.0085	0.0041	0.042	0.44358	D	0.398	0.15746	T	0.167	0.28604	B	0.04	0.23831	B	0.068702	0.21654	N	0.432451	1	0.81001	D	1.61	0.41143	L	1.37	0.34253	T	-0.92	0.25551	N	0.309	0.34874	-1.0706	0.09282	T	0.029	0.12673	T	10	0.0035499334	0.00064	T	.	.	.	0.055	0.15663	.	.	0.147330786459	0.14319	0.07654943486015639	0.07590	0.21552537	0.24085	0.307926267385	0.11594	T	0.008107	0.07462	T	-0.476606	0.00775	T	-0.453663	0.27293	T	0.0100612664167618	0.00135	T	0.716128	0.32863	T	0.07624217	0.17231	0.07669731	0.17011	0.07624217	0.17231	0.07669731	0.17011	-4.136	0.25819	T	.	.	0.09	0.12607	B	.;.	.;.	2.062754	0.26225	17.04	0.99077901006632374	0.51882	0.51476	0.28904	D	AEFBCI	0.103206	0.20683	N	-0.368203577258762	0.26609	1.453498	-0.238555164470753	0.30168	1.696263	0.999997713252263	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.37	4.49	0.54177	2.051000	0.40932	3.367000	0.37903	0.599000	0.40250	0.505000	0.26994	0.263000	0.23997	0.910000	0.44547	0.0:0.9096:0.0:0.0904	11.261	0.48315	600	0.68026	.;.	.	.	.	.	.	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	0.009063	0.005051	0.012228	0.005848	0.000000	0.008621	0.009146	0.011364	0.05	1778.43	33	chr3	196886088	.	C	T	1778.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=432;ExcessHet=0;FS=6.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.23;ReadPosRankSum=-0.372;SOR=1.244	GT:AD:DP:GQ:PL	0/1:57,68:125:99:1790,0,1415	9	0	1	0
chr4	444120	444120	T	C	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.A347G:p.K116R	.	454	1051	15	2	0	19	0.00895804	.	.	.	2822292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	.	0.0060	0.00379393	0.0061	0.0016	0.0024	0.0001	0.0064	0.0080	0.0044	0.0070	0.0061319	948	154602	rs115278773	0.0079	0.0079	0.0079	0.0079	0.0123	0.0078	0.0077	0.0100	0.0092	0.0017	0.0032	0.0012	7.559e-05	0.0063	0.0123	0.0089	0.0059	0.0077	0.0061	0.0061	0.0062	0.0061	0.0087	0.0058	0.0057	0.0081	0.0078	0.0022	0.0571	0.0044	0.0006	0	0.0065	0.0102	0.0086	0.0095	0.0087	0.079	0.37118	T	0.025	0.58613	D	0.979	0.59044	D	0.973	0.72923	D	.	.	.	.	1	0.24463	N	2.185	0.61350	M	1.33	0.35219	T	-1.94	0.52451	N	0.18	0.26957	-1.0099	0.26949	T	0.103	0.37994	T	9	0.0046679378	0.00098	T	.	.	.	0.030	0.07022	.	.	0.0401082797425	0.02173	0.009552388223749455	0.00918	0.0549770881719	0.06090	0.286051034927	0.08350	T	0.002659	0.02055	T	-0.564552	0.00238	T	-0.576609	0.14850	T	0.0119287855666207	0.00187	T	0.634537	0.44325	T	0.043829866	0.06901	0.041894507	0.04867	0.043829866	0.06901	0.041894507	0.04867	-7.901	0.60393	D	.	.	0.095	0.16843	B	.;.;.	.;.;.	1.220349	0.16140	12.34	0.78946973829931699	0.12522	0.00001	0.00044	N	AEFBCI	0.026062	0.01892	N	-1.03358638335288	0.07913	0.3692515	-1.26373053252019	0.04930	0.23377	0.00784779115160298	0.11556	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	0.723	-0.871	0.10103	0.787000	0.26519	.	.	0.470000	0.21925	0.118000	0.23139	0.000000	0.08366	0.002000	0.04165	0.0:0.2478:0.0:0.7522	4.232	0.10061	912	0.21483	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type	.	.	.	.	.	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	1	0	0.009063	0.010101	0.016304	0.005848	0.050000	0.008621	0.003049	0.003788	0.05	1726.43	35	chr4	444120	.	T	C	1726.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.852;DP=492;ExcessHet=0;FS=2.226;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.73;SOR=0.511	GT:AD:DP:GQ:PL	0/1:59,71:130:99:1738,0,1516	9	0	1	0
chr4	522167	522167	G	A	exonic	PIGG	.	nonsynonymous SNV	PIGG:NM_001345989:exon9:c.G1793A:p.C598Y	Mental retardation, autosomal recessive 53, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.318e-05	1.177e-05	9.295e-06	1.666e-05	5.039e-05	4.74e-06	3.11e-06	7.13e-06	2.67e-06	0	5.039e-05	0	0	0	0	1.101e-05	0	4.299e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1610.43	35	chr4	522167	.	G	A	1610.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.583;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=1.63;SOR=0.654	GT:AD:DP:GQ:PL	0/1:70,66:136:99:1622,0,1883	9	0	1	0
chr4	962443	962443	G	A	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon18:c.C2206T:p.P736S	.	.	.	.	.	.	.	.	.	.	.	3246928	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.313	0.301486140503	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380526612	3.513e-06	8.209e-06	4.182e-06	2.832e-06	7.371e-05	1.03e-06	7.5e-07	1.954e-05	1.042e-05	3.055e-05	7.371e-05	0	0	2.418e-05	0	0	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	9.407e-05	0	0	0	0	0.205	0.20002	T	0.475	0.12072	T	1.0	0.90584	D	0.98	0.74843	D	0.000002	0.62929	D	0.102926	0.999845	0.49770	D	2.42	0.70002	M	-1.4	0.80474	T	-1.32	0.32991	N	0.537	0.56489	-0.2759	0.75652	T	0.497	0.80970	T	10	0.62290066	0.68079	D	0.301486	0.90897	D	0.313	0.63482	0.342	0.33464	0.843020807234	0.84152	0.40027142158085804	0.39942	0.475349613612	0.46714	0.54937261343	0.45769	T	0.039941	0.25362	T	0.0491283	0.58231	T	-0.167207	0.57698	T	0.736256003379822	0.42537	D	0.906409	0.67021	D	0.07564722	0.17057	0.11217617	0.27065	0.07564722	0.17057	0.11217617	0.27065	-8.008	0.61125	D	.	.	0.144	0.31758	B	.	.	4.873022	0.79845	27.2	0.99898377053110388	0.97048	0.84412	0.43494	D	AEFDBCI	0.449622	0.50436	N	0.136516592325105	0.48175	3.033076	0.212453364897481	0.50538	3.244783	0.999974845546754	0.50053	0.706548	0.73137	0	0.643519	0.57511	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.55	4.55	0.55429	3.852000	0.55642	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.878000	0.41950	0.0:0.0:1.0:0.0	15.148	0.72354	749	0.51929	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2529.43	35	chr4	962443	.	G	A	2529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.79;DP=434;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=-0.806;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,65:124:99:0|1:962443_G_A:2541,0,2235:962443	9	0	1	0
chr4	962444	962444	C	A	exonic	DGKQ	.	nonsynonymous SNV	DGKQ:NM_001347:exon18:c.G2205T:p.E735D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.0298732648542	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.637	0.05046	T	0.529	0.10138	T	0.183	0.29179	B	0.088	0.29688	B	0.000003	0.62929	D	0.102091	0.930988	0.36975	D	0.635	0.15989	N	-1.4	0.80474	T	0.62	0.02442	N	0.271	0.30687	-1.0788	0.07582	T	0.040	0.17149	T	10	0.1328412	0.25283	T	0.029873	0.52303	D	0.242	0.54781	0.344	0.33788	0.77859163476	0.77655	0.33667086288448145	0.33580	0.181664737261	0.20417	0.583455502987	0.50572	T	0.024105	0.18278	T	-0.0377592	0.46282	T	-0.292015	0.45562	T	0.338882774114609	0.26579	T	0.79742	0.44137	T	0.060168546	0.12314	0.052334275	0.08600	0.060168546	0.12314	0.052334275	0.08599	-5.709	0.43773	T	.	.	0.119	0.24294	B	.	.	2.250260	0.28740	17.90	0.97014375651131202	0.31997	0.63848	0.32218	D	AEFDBCI	0.284730	0.39753	N	-0.327295213582682	0.28115	1.548082	-0.252522342281686	0.29684	1.665086	0.62315769147438	0.21903	0.706548	0.73137	0	0.694456	0.67091	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.55	2.35	0.28166	0.326000	0.19391	.	.	0.599000	0.40250	0.983000	0.35670	0.997000	0.33255	0.862000	0.40904	0.0:0.4889:0.2221:0.2889	3.177	0.06180	749	0.51929	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2529.43	35	chr4	962444	.	C	A	2529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=435;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.4;ReadPosRankSum=-0.305;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,65:124:99:0|1:962443_G_A:2541,0,2235:962443	9	0	1	0
chr4	2081632	2081632	C	T	splicing	POLN	NM_181808:exon22:c.2308+1G>A	.	.	.	428	1083	11	0	0	11	0.00505282	1.0000	0.952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.000399361	0.0004	0.0004	0	0	0	0.0006	0.0011	0.0002	0.0003558	55	154602	rs143143974	0.0002	0.0002	0.0002	0.0003	0.0028	0.0002	0.0002	0.0017	0.0014	0.0004	6.708e-05	0.0028	0	1.872e-05	0.0028	0.0002	0.0005	0.0005	0.0004	0.0004	0.0003	0.0004	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0	0	0.0035	0	0	0.0034	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0909168	0.63292	D	0.246853	0.85473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.111848	0.85468	28.6	0.99418941996589361	0.63645	0.90581	0.51876	D	AEFBI	.	.	.	0.982582759655914	0.95185	13.38439	0.789601522924616	0.89062	9.822917	0.999987448382144	0.51787	0.078448	0.01964	0	0.097471	0.02872	0	0.060301	0.00762	0	0.062806	0.01542	0	0.976	0.79503	4.32	4.32	0.50899	2.365000	0.43849	7.173000	0.57731	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:1.0:0.0:0.0	12.476	0.55154	788	0.46569	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1384.43	38	chr4	2081632	.	C	T	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.47;DP=478;ExcessHet=0;FS=3.878;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.93;ReadPosRankSum=-1.578;SOR=1.016	GT:AD:DP:GQ:PL	0/1:96,59:155:99:1396,0,2228	9	0	1	0
chr4	3074920	3074920	A	C	exonic	HTT	.	nonsynonymous SNV	HTT:NM_002111:exon1:c.A95C:p.Q32P	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0594881249737	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1253122256	1.046e-05	8.032e-05	1.327e-05	7.578e-06	0.0003	6.07e-06	4.75e-06	0.0001	0.0001	0.0003	0	0	0	0	0	2.855e-06	1.805e-05	2.637e-05	0.0002	0.0002	0.0003	0.0001	0.0008	0.0002	0.0001	0.0005	0.0005	0.0008	0	6.849e-05	0	0	0	0	1.542e-05	0	0	0.047	0.40319	D	0.007	0.69154	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.895	0.22405	L	1.86	0.24285	T	-0.14	0.09135	N	0.175	0.18784	-0.9963	0.30946	T	0.033	0.14117	T	9	0.07753968	0.12250	T	0.059488	0.67679	D	0.068	0.19811	0.258	0.20002	0.607124796947	0.60397	0.21316608393616265	0.21232	0.710576504481	0.61689	0.703980267048	0.67720	T	0.098358	0.40211	T	-0.0743632	0.40628	T	-0.344594	0.39824	T	0.15140530131565	0.17215	T	0.29517	0.05454	T	0.13126162	0.30602	0.31538495	0.57525	0.13126162	0.30602	0.31538495	0.57524	-8.008	0.61125	D	.	.	0.072	0.04436	B	.	.	1.353108	0.17613	13.27	0.52663042483249667	0.04790	0.02020	0.06069	N	AEFDBCIJ	0.090646	0.18367	N	-1.10094207327284	0.06627	0.3056036	-1.16212361944639	0.06553	0.3157847	0.999999127657127	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.171818	0.04044	3	0.621717	0.48901	0	.	.	1.69	-1.23	0.08977	-0.130000	0.10477	1.886000	0.29485	0.000000	0.17513	0.990000	0.36992	1.000000	0.68203	0.077000	0.17074	0.2413:0.5796:0.0:0.1791	5.428	0.15738	542	0.72843	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	138.43	59	chr4	3074920	.	A	C	138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.391;DP=422;ExcessHet=0;FS=14.075;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59;MQRankSum=1.12;QD=5.54;ReadPosRankSum=1.96;SOR=3.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,5:25:99:0|1:3074915_G_A:150,0,822:3074915	9	0	1	0
chr4	3074923	3074924	AG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.98_99del:p.Q33Pfs*49	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1217378741	9.818e-06	1.463e-05	1.19e-05	7.669e-06	0.0003	5.48e-06	4.22e-06	0.0001	8.466e-05	0.0003	0	0	0	0	0	2.878e-06	1.835e-05	2.673e-05	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	9.887e-05	0.0004	0.0004	0.0006	0	6.889e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	141.39	59	chr4	3074922	.	CAG	C	141.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.203;DP=421;ExcessHet=0;FS=13.856;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=58.98;MQRankSum=1.15;QD=5.89;ReadPosRankSum=2.06;SOR=3.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:3074915_G_A:153,0,783:3074915	9	0	1	0
chr4	3074923	3074925	AGC	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	799.42	59	chr4	3074923	.	AGC	*	799.42	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.396;DP=419;ExcessHet=0.7463;FS=7.017;InbreedingCoeff=-0.1767;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.07;ReadPosRankSum=1.91;SOR=0.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:3074915_G_A:153,0,783:3074915	9	0	1	0
chr4	3074927	3074939	GCAGCAGCAACAG	-	exonic	HTT	.	frameshift deletion	HTT:NM_002111:exon1:c.102_114del:p.Q34Hfs*63	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.77e-06	6.26e-06	1.487e-06	6.119e-06	2.678e-05	1.1e-06	8e-07	4.44e-06	1.66e-06	0	0	0	0	0	0	2.874e-06	0	2.678e-05	7.087e-06	1.365e-05	0	1.452e-05	2.708e-05	0	0	.	.	2.708e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	935.12	59	chr4	3074926	.	AGCAGCAGCAACAG	A	935.12	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.763;DP=410;ExcessHet=0.7463;FS=7.017;InbreedingCoeff=-0.1768;MLEAC=1;MLEAF=0.05;MQ=59.71;MQRankSum=0;QD=8.28;ReadPosRankSum=1.97;SOR=0.285	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:3074915_G_A:153,0,783:3074915	9	0	1	0
chr4	3074927	3074927	G	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	4	1369	54	4	91	153	0.0221429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	318.53	59	chr4	3074927	.	G	*	318.53	.	AC=3;AF=0.167;AN=18;BaseQRankSum=0.674;DP=412;ExcessHet=0.2065;FS=1.59;InbreedingCoeff=0.1213;MLEAC=3;MLEAF=0.167;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=-0.126;SOR=0.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:3074915_G_A:153,0,783:3074915	6	0	3	1
chr4	3074932	3074932	A	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	666.55	55	chr4	3074932	.	A	*	666.55	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.674;DP=374;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.2705;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.55;ReadPosRankSum=1.72;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:3074915_G_A:153,0,783:3074915	8	0	1	1
chr4	3074935	3074935	A	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	672.61	55	chr4	3074935	.	A	*	672.61	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.804;DP=364;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.2648;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=1.31;SOR=0.648	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:3074915_G_A:153,0,783:3074915	8	0	1	1
chr4	3074938	3074938	A	0	exonic	HTT	.	.	.	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	675.62	53	chr4	3074938	.	A	*	675.62	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.842;DP=359;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.2639;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=1.53;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,5:24:99:0|1:3074915_G_A:153,0,783:3074915	8	0	1	1
chr4	4226602	4226602	C	T	exonic	OTOP1	.	nonsynonymous SNV	OTOP1:NM_177998:exon1:c.G263A:p.S88N	.	402	1114	6	0	0	6	0.00268577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.017784159231	.	.	8.216e-05	0	0	0	0	6.361e-05	0	0.0003	3.84e-05	1	26028	rs776895619	3.519e-05	4.515e-05	3.296e-05	3.743e-05	0.0005	2.72e-05	2.459e-05	0.0002	0.0001	0	6.781e-05	3.868e-05	0	0	0.0005	1.712e-05	8.355e-05	0.0002	1.314e-05	1.313e-05	1.284e-05	1.344e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	0.627	0.05198	T	1.0	0.01155	T	0.002	0.09854	B	0.004	0.10090	B	0.075050	0.21247	U	0.473582	0.999759	0.20482	N	1.355	0.33814	L	3.09	0.08371	T	-0.38	0.13418	N	0.114	0.10198	-0.9574	0.39662	T	0.013	0.04890	T	10	0.046491742	0.03847	T	0.017784	0.39611	T	0.076	0.22200	0.312	0.28612	0.173771789658	0.16945	0.13763828080973572	0.13687	1.46205250959	0.86366	0.739707231522	0.72929	T	0.067467	0.33209	T	-0.574937	0.00207	T	-0.747478	0.03585	T	0.0356297753751278	0.02917	T	0.59644	0.22167	T	0.12246963	0.28779	0.14208815	0.33814	0.12246963	0.28779	0.14208815	0.33813	-5.147	0.38398	T	.	.	0.094	0.14477	B	.	.	2.848467	0.37596	20.5	0.96097890654407547	0.28703	0.60591	0.31239	D	AEFDGBHCI	0.102459	0.20552	N	-0.486897298250943	0.22510	1.202415	-0.309002668404121	0.27807	1.545642	0.998631898000647	0.37351	0.59774	0.34471	0	0.563428	0.19063	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.55	3.55	0.39770	0.886000	0.27878	3.030000	0.36038	0.448000	0.21234	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.6593:0.3407:0.0	11.301	0.48542	952	0.10565	.	.	.	.	.	.	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	0.001022	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.003846	0.05	446.43	41	chr4	4226602	.	C	T	446.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.123;DP=458;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.12;MQRankSum=2.42;QD=5.65;ReadPosRankSum=-0.1;SOR=0.77	GT:AD:DP:GQ:PL	0/1:54,25:79:99:458,0,1264	9	0	1	0
chr4	6018311	6018311	G	-	exonic	C4orf50	.	frameshift deletion	C4orf50:NM_001364689:exon1:c.121delC:p.Q41Rfs*47,C4orf50:NM_001364690:exon1:c.121delC:p.Q41Rfs*47	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.181e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	55.42	.	chr4	6018310	.	TG	T	55.42	.	AC=1;AF=0.071;AN=14;BaseQRankSum=0;DP=17;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:63:63,0,63	6	0	1	3
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	2133.02	152	chr4	6862306	.	T	C	2133.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.47;DP=1244;ExcessHet=15.1594;FS=225.654;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=1.81;ReadPosRankSum=1.2;SOR=11.543	GT:AD:DP:GQ:PL	0/1:72,21:93:48:48,0,1601	1	0	9	0
chr4	22388349	22388349	T	C	exonic	ADGRA3	.	nonsynonymous SNV	ADGRA3:NM_145290:exon19:c.A3322G:p.N1108D	.	433	1088	1	0	0	1	0.000459348	.	.	.	829037	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.135	0.0311239104786	.	.	4.95e-05	0	0	0	0	8.995e-05	0	0	5.17e-05	8	154602	rs750684538	3.215e-05	3.215e-05	2.995e-05	3.438e-05	0.0005	2.478e-05	2.22e-05	0.0001	7.546e-05	2.987e-05	2.236e-05	3.826e-05	0	0	0.0005	3.327e-05	4.967e-05	1.159e-05	6.575e-06	6.567e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.684	0.04379	T	0.216	0.26226	T	0.988	0.62325	D	0.76	0.56425	P	0.000000	0.84330	D	0.042300	0.999998	0.58761	D	.	.	.	0.51	0.55439	T	-1.52	0.36980	N	0.644	0.65587	-0.7752	0.56570	T	0.229	0.59459	T	10	0.4488006	0.58567	T	0.031124	0.53284	D	0.135	0.36572	0.369	0.37850	0.151262610727	0.14761	0.2734018693848779	0.27253	0.543955468731	0.51462	0.677370548248	0.63892	T	0.218132	0.58077	T	-0.242328	0.15053	T	-0.394182	0.34062	T	0.401351660490036	0.28993	T	0.859214	0.55036	D	0.29010993	0.52003	0.33563578	0.59375	0.29010993	0.52003	0.33563578	0.59374	-3.431	0.15477	T	.	.	0.184	0.39848	B	.	.	4.442011	0.68981	25.3	0.99601053867176093	0.74219	0.98049	0.79168	D	AEBI	0.842193	0.75933	D	0.455100893863943	0.64494	4.705098	0.507011596369036	0.68460	5.223198	0.999998406160432	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	5.716000	0.68088	5.048000	0.46972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.125	0.81202	819	0.41190	.	.	.	.	.	.	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1388.43	47	chr4	22388349	.	T	C	1388.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.85;DP=435;ExcessHet=0;FS=1.691;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.77;ReadPosRankSum=-0.36;SOR=0.931	GT:AD:DP:GQ:PL	0/1:40,54:94:99:1400,0,850	9	0	1	0
chr4	25674588	25674588	G	A	exonic	SLC34A2	.	nonsynonymous SNV	SLC34A2:NM_001177998:exon12:c.G1414A:p.A472T,SLC34A2:NM_001177999:exon12:c.G1414A:p.A472T,SLC34A2:NM_006424:exon12:c.G1417A:p.A473T	Pulmonary alveolar microlithiasis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	0.250455050499	7.7e-05	.	4.119e-05	0	8.639e-05	0	0	5.995e-05	0	0	7.12e-05	11	154602	rs377112763	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.5e-05	0.0001	0.0001	0	2.236e-05	0	0	0	0	0.0001	0.0001	0	5.913e-05	5.91e-05	8.993e-05	2.69e-05	0.0001	3.077e-05	2.21e-05	5.842e-05	4.24e-05	0	0	0	0	0	0	0	0.0001	0.0005	0	0.002	0.72154	D	0.003	0.76473	D	0.994	0.77913	D	0.867	0.70672	P	0.000000	0.84330	D	0.050246	1	0.81001	D	2.965	0.85198	M	-2.27	0.87433	D	-3.53	0.68532	D	0.87	0.87265	0.745	0.93727	D	0.786	0.92736	D	10	0.93631434	0.92962	D	0.250455	0.89092	D	0.868	0.96022	.	.	0.968714131994	0.96837	0.9646828050153997	0.96455	0.847024193795	0.68364	0.531073272228	0.43186	T	0.758611	0.93443	D	0.281655	0.81457	D	0.352705	0.90423	D	0.948673248291016	0.62946	D	0.985701	0.95103	D	0.60151845	0.72772	0.59874827	0.76695	0.60151845	0.72774	0.59874827	0.76696	-8.195	0.62855	D	0.7768689336948482	0.85723	0.836	0.79014	P	.;.;.;.	.;.;.;.	4.062831	0.60307	24.2	0.99902633681527919	0.97426	0.98285	0.81260	D	AEFBI	0.926818	0.90853	D	0.694250264645112	0.79255	7.039424	0.62161878267821	0.76513	6.504774	0.982375558562502	0.30390	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.2	4.35	0.51454	8.121000	0.89451	7.511000	0.59621	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.028000	0.12845	0.0:0.0:0.8597:0.1403	15.422	0.74746	923	0.18507	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	926.43	36	chr4	25674588	.	G	A	926.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.34;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.17;ReadPosRankSum=1.58;SOR=0.727	GT:AD:DP:GQ:PL	0/1:61,40:101:99:938,0,1421	9	0	1	0
chr4	25804548	25804548	T	G	exonic	SEL1L3	.	nonsynonymous SNV	SEL1L3:NM_001297592:exon10:c.A1664C:p.Q555P,SEL1L3:NM_001297594:exon10:c.A1310C:p.Q437P,SEL1L3:NM_015187:exon10:c.A1769C:p.Q590P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00963530512065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1273282177	3.434e-06	3.42e-06	1.366e-06	5.524e-06	0.0003	1.01e-06	7.3e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	1.804e-06	1.661e-05	0	1.971e-05	1.97e-05	2.569e-05	1.344e-05	1.47e-05	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0	1.47e-05	0.0010	0	0.215	0.19293	T	0.217	0.27235	T	0.0	0.02946	B	0.0	0.01387	B	0.301072	0.14597	N	0.725127	0.588817	0.32438	D	0.345	0.11182	N	0.63	0.53088	T	-1.86	0.43524	N	0.204	0.22614	-1.0338	0.19236	T	0.093	0.35336	T	10	0.07619798	0.11872	T	0.009635	0.25176	T	0.084	0.24469	.	.	0.123314135267	0.11883	0.7301139307977426	0.72956	0.221771950682	0.24716	0.278899371624	0.07339	T	0.01963	0.15604	T	-0.182538	0.23358	T	-0.499979	0.22349	T	0.0651634112000465	0.07955	T	0.584142	0.21248	T	0.28689113	0.51703	0.3391092	0.59680	0.28689113	0.51702	0.3391092	0.59680	-7.66	0.58729	D	.	.	0.059	0.00806	B	.;.;.	.;.;.	0.236787	0.06174	2.623	0.89352668122862478	0.18724	0.11808	0.16875	N	AEFBI	0.097264	0.19620	N	-0.92187847373057	0.10331	0.4931808	-0.897910720871546	0.12143	0.6229428	0.929241200985466	0.26961	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	-3.43	0.04507	-0.831000	0.04512	-0.236000	0.10634	-0.123000	0.13640	0.017000	0.19353	0.462000	0.25007	0.988000	0.63387	0.0:0.1763:0.4932:0.3305	9.120	0.35943	868	0.31772	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	482.43	35	chr4	25804548	.	T	G	482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=368;ExcessHet=0;FS=2.466;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.46;ReadPosRankSum=0.285;SOR=1.135	GT:AD:DP:GQ:PL	0/1:34,23:57:99:494,0,858	9	0	1	0
chr4	47937463	47937463	C	T	exonic	CNGA1	.	nonsynonymous SNV	CNGA1:NM_001142564:exon10:c.G1019A:p.R340H,CNGA1:NM_000087:exon11:c.G1019A:p.R340H,CNGA1:NM_001379270:exon11:c.G1019A:p.R340H	Retinitis pigmentosa 49	0	1517	5	0	0	5	0.00164528	.	.	.	734653	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.651	.	.	0.00379393	0.0024	0.0001	0.0003	0.0003	0	3.001e-05	0.0011	0.0170	0.002031	314	154602	rs150374036	0.0009	0.0009	0.0005	0.0013	0.0142	0.0009	0.0008	0.0136	0.0133	0.0001	4.472e-05	0	0.0004	1.872e-05	0	8.993e-06	0.0011	0.0142	0.0004	0.0004	0.0002	0.0007	0.0120	0.0003	0.0003	0.0095	0.0087	2.406e-05	0	0	0	0.0014	0	0	0	0	0.0120	0.011	0.68238	D	0.032	0.53426	D	0.935	0.52277	P	0.49	0.47330	P	0.000000	0.84330	D	0.000000	0.998794	0.45457	D	2.455	0.71248	M	-4.6	0.97849	D	-1.78	0.71639	N	0.803	0.81658	0.672	0.92825	D	0.853	0.95091	D	10	0.010541469	0.00234	T	.	.	.	0.651	0.86836	.	.	0.989932466362	0.98982	0.7823465143156927	0.78185	0.573819230961	0.53428	0.550280332565	0.45897	T	0.464993	0.80032	T	-0.0829753	0.39229	T	0.121009	0.78301	D	0.0594007140863952	0.07074	T	0.869813	0.57430	D	0.49210852	0.66628	0.29644024	0.55676	0.4770012	0.65718	0.28146088	0.54127	-6.694	0.54012	T	.	.	0.172	0.37671	B	.;.;.;.;.	.;.;.;.;.	4.564725	0.71961	25.8	0.99780624830334352	0.86780	0.97678	0.76352	D	AEFGBI	0.931807	0.92120	D	0.113810350869522	0.47107	2.941075	0.0863322414810207	0.43860	2.679073	0.957144065817343	0.28287	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.77	3.93	0.44666	7.522000	0.80772	4.949000	0.46268	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.9214:0.0:0.0786	12.956	0.57824	380	0.83728	.;Ion transport domain;.;Ion transport domain;Ion transport domain	.	.	.	.	.	Likely benign	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	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1648.43	35	chr4	47937463	.	C	T	1648.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.017;DP=472;ExcessHet=0;FS=3.82;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.14;ReadPosRankSum=2.2;SOR=0.999	GT:AD:DP:GQ:PL	0/1:75,73:148:99:1660,0,1631	9	0	1	0
chr4	48553248	48553248	T	C	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon36:c.A4402G:p.T1468A	.	435	1057	30	0	0	30	0.0139925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	.	0.0004	0.00159744	0.0038	0.0002	0.0009	0	0.0057	0.0011	0.0056	0.0202	0.0032147	497	154602	rs201826654	0.0022	0.0022	0.0016	0.0028	0.0198	0.0021	0.0021	0.0190	0.0187	0.0003	0.0005	0.0009	5.04e-05	0.0079	0.0092	0.0007	0.0021	0.0198	0.0016	0.0016	0.0011	0.0021	0.0126	0.0014	0.0014	0.0101	0.0092	0.0002	0	0.0007	0	0	0.0094	0.0034	0.0009	0.0009	0.0126	0.164	0.23360	T	0.253	0.23501	T	0.092	0.59044	B	0.065	0.72923	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	1.9	0.44461	T	-2.49	0.54217	N	0.491	0.52918	-0.9071	0.47203	T	0.185	0.53481	T	10	0.008763969	0.00198	T	.	.	.	0.180	0.45073	.	.	0.354648800996	0.35079	0.5675465522245963	0.56682	0.387626592147	0.40038	0.555667221546	0.46655	T	0.230074	0.59606	T	-0.219986	0.17994	T	-0.072514	0.65446	T	0.0774891752752781	0.09663	T	0.856014	0.54441	D	0.093174316	0.21878	0.14065778	0.33522	0.093174316	0.21878	0.14065778	0.33521	-3.88	0.22002	T	.	.	0.091	0.16538	B	.;.;.	.;.;.	3.154228	0.42713	21.6	0.98891657941019728	0.48019	0.96157	0.67794	D	AEFDBI	0.641293	0.61868	D	0.295643881416598	0.55927	3.756885	0.405890105144516	0.61932	4.400382	0.999999999901362	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	5.930000	0.69823	2.843000	0.35092	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.0:1.0	16.609	0.84711	130	0.94779	.;.;.	.	.	.	.	.	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	0.010070	0.000000	0.004076	0.008772	0.000000	0.008621	0.015244	0.037879	0.05	568.43	33	chr4	48553248	.	T	C	568.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.572;DP=360;ExcessHet=0;FS=1.222;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.547;SOR=0.473	GT:AD:DP:GQ:PL	0/1:17,26:43:99:580,0,390	9	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0383539863136	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.159e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.721	0.07645	T	1.0	0.02320	T	0.0	0.02946	B	0.002	0.06944	B	0.500149	0.11959	N	0.763345	0.999999	0.08975	N	0	0.06538	N	-1.0	0.79475	T	0.17	0.05503	N	0.062	0.03392	-0.9355	0.43318	T	0.210	0.56987	T	10	0.06979209	0.10064	T	0.038354	0.58173	D	0.220	0.51569	0.277	0.23004	0.218112801441	0.21410	0.08298338610072416	0.08233	0.143220915427	0.16158	0.389911532402	0.23657	T	0.060098	0.31295	T	-0.183051	0.23284	T	-0.500716	0.22273	T	0.0229056347161531	0.01012	T	0.688631	0.29780	T	0.024906462	0.01370	0.035201468	0.02727	0.024906462	0.01369	0.035201468	0.02726	-1.847	0.02653	T	.	.	0.071	0.05756	B	.;.	.;.	0.110711	0.05102	1.635	0.20966396445076937	0.00778	0.02623	0.07209	N	AEFBI	0.039849	0.05844	N	-1.39337633456026	0.02699	0.1195753	-1.34234769508233	0.03896	0.182715	0.00250006729755947	0.09478	0.706298	0.61202	0	0.724815	0.89359	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	4.81	-1.83	0.07410	-0.112000	0.10762	-0.809000	0.07342	-0.716000	0.03877	0.218000	0.24513	0.000000	0.08366	0.164000	0.20782	0.0:0.6067:0.0:0.3933	13.716	0.62173	591	0.68823	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	151.14	113	chr4	53145477	.	T	C	151.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.836;DP=844;ExcessHet=0.2348;FS=106.627;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.28;SOR=7.546	GT:AD:DP:GQ:PL	0/1:63,26:89:99:147,0,1177	8	0	2	0
chr4	76739350	76739350	G	C	exonic	SHROOM3	.	nonsynonymous SNV	SHROOM3:NM_020859:exon5:c.G1177C:p.A393P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288	0.0632131570835	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200056000	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.076	0.42614	T	0.997	0.70673	D	0.932	0.66722	D	0.134878	0.18501	N	0.540287	0.94643	0.37527	D	2.36	0.67893	M	0.08	0.61559	T	-2.96	0.61722	D	0.541	0.56833	-0.2255	0.77006	T	0.356	0.71897	T	10	0.34037745	0.51107	T	0.063213	0.68897	D	0.288	0.60691	0.072	0.00442	0.497343540673	0.49367	0.34908827351521876	0.34822	1.07399651104	0.76911	0.450027406216	0.31947	T	0.568422	0.85670	D	-0.0314414	0.47208	T	-0.101412	0.63289	T	0.88046932220459	0.53048	D	0.889011	0.61998	D	0.3877715	0.59873	0.5016172	0.71188	0.3877715	0.59874	0.5016172	0.71189	-11.87	0.84212	D	.	.	0.482	0.63745	A	.;.	.;.	2.594927	0.33671	19.41	0.99690208298544458	0.79909	0.96609	0.70000	D	AEFDBCI	0.582537	0.58212	D	0.460901204770962	0.64823	4.745878	0.376617614976519	0.60125	4.196894	0.999999041519795	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.63	3.89	0.44098	2.925000	0.48580	2.578000	0.33400	0.676000	0.76740	0.980000	0.35271	0.810000	0.27029	0.646000	0.32584	0.1386:0.0:0.8614:0.0	12.274	0.54039	547	0.72440	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2559.14	111	chr4	76739350	.	G	C	2559.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.07;DP=1039;ExcessHet=0.2348;FS=6.307;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.89;ReadPosRankSum=1.35;SOR=1.069	GT:AD:DP:GQ:PL	0/1:58,46:104:99:1290,0,1450	8	0	2	0
chr4	76897476	76897478	CGC	-	exonic	SOWAHB	.	nonframeshift deletion	SOWAHB:NM_001029870:exon1:c.372_374del:p.R125del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0118	.	0.0008	0.0048	0	0	0	0.0005	0	0.0008	3.84e-05	1	26028	rs750236754	5.245e-05	0.0004	4.285e-05	6.232e-05	0.0005	4.227e-05	3.877e-05	0.0003	0.0002	0	0.0005	0	3.403e-05	5.534e-05	0.0002	3.309e-05	7.222e-05	0.0002	0	6.569e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	117.39	26	chr4	76897475	.	GCGC	G	117.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.726;DP=269;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.91;ReadPosRankSum=0.852;SOR=0.368	GT:AD:DP:GQ:PL	0/1:13,4:17:99:129,0,534	9	0	1	0
chr4	78887246	78887246	A	G	exonic	BMP2K	.	nonsynonymous SNV	BMP2K:NM_198892:exon15:c.A2024G:p.E675G	.	429	1077	15	1	0	17	0.00783049	.	.	.	2367501	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.0245590713657	0.0007	0.000199681	0.0012	0	0.0002	0	0	0.0018	0.0029	0.0017	0.0008538	132	154602	rs200263125	0.0006	0.0006	0.0005	0.0007	0.0068	0.0006	0.0006	0.0051	0.0045	2.99e-05	0.0009	0.0023	2.527e-05	0	0.0068	0.0005	0.0012	0.0013	0.0008	0.0008	0.0007	0.0010	0.0033	0.0007	0.0007	0.0026	0.0023	7.217e-05	0	0.0033	0.0023	0	0	0	0.0008	0.0014	0.0015	0.024	0.47745	D	0.125	0.35330	T	0.998	0.73220	D	0.82	0.59072	P	0.002806	0.35900	N	0.235974	0.999898	0.81001	D	1.1	0.28011	L	2.26	0.17596	T	-2.54	0.55025	D	0.363	0.40465	-1.1317	0.01703	T	0.072	0.29323	T	10	0.021440357	0.00513	T	0.024559	0.47547	T	0.205	0.49236	.	.	0.301789629655	0.29801	0.22425452088601844	0.22340	0.0933479579245	0.10547	0.49670124054	0.38368	T	0.092704	0.39060	T	-0.406056	0.02112	T	-0.396581	0.33782	T	0.0695041567087173	0.08581	T	0.632437	0.24680	T	0.19723512	0.41580	0.28775573	0.54789	0.19723512	0.41580	0.28775573	0.54788	-7.551	0.57968	D	.	.	0.161	0.35519	B	.	.	3.805334	0.54855	23.5	0.99666813080586869	0.78330	0.98762	0.86525	D	AEFBI	0.612027	0.60026	D	0.533700047762684	0.69097	5.308727	0.572181772952192	0.72952	5.891761	0.999999958919782	0.74766	0.562547	0.31514	0	0.588066	0.40923	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	6.162000	0.71691	8.070000	0.76436	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.144	0.81367	551	0.72115	.	.	.	.	.	.	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	0.007049	0.000000	0.008152	0.002924	0.000000	0.000000	0.009146	0.011364	0.1	2435.14	33	chr4	78887246	.	A	G	2435.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.325;DP=502;ExcessHet=0.2348;FS=0.491;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.92;ReadPosRankSum=1.65;SOR=0.629	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1061,0,1056	8	0	2	0
chr4	82429582	82429590	GCCGCGGCG	-	exonic	HNRNPDL	.	nonframeshift deletion	HNRNPDL:NM_001207000:exon1:c.101_109del:p.P34_R36del,HNRNPDL:NM_031372:exon1:c.101_109del:p.P34_R36del	Muscular dystrophy, limb-girdle, type 1G, Autosomal dominant	420	1099	3	0	0	3	0.00136302	.	.	.	562278	Autosomal_dominant_limb-girdle_muscular_dystrophy_type_1G	MONDO:MONDO:0012193,MedGen:C1836765,OMIM:609115,Orphanet:55596	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0033	.	0.0004	0.0019	0	0	0	0	0	0	3.84e-05	1	26028	rs759911561	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0003	0.0003	0	0	0.0001	2.544e-05	0.0003	0.0003	0.0003	5.498e-05	0.0002	0.0002	0.0002	0.0002	0.0006	0.0002	0.0001	0.0002	0.0001	0.0003	0	0	0	0	0	0	0.0003	0.0005	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1125.11	20	chr4	82429581	.	TGCCGCGGCG	T	1125.11	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.669;DP=194;ExcessHet=0.2348;FS=5.562;InbreedingCoeff=-0.1112;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=29.61;ReadPosRankSum=1.44;SOR=0.442	GT:AD:DP:GQ:PL	0/1:2,10:12:34:410,0,34	8	0	2	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X,TMEM150C:NM_001353454:exon8:c.C633G:p.Y211X	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.197	0.35620	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554516	0.95935	D	0.558747	0.95874	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive	High;High	7.551913	0.96631	36	0.99231645482670716	0.56246	0.84936	0.44032	D	AEFBI	0.672136	0.63864	D	0.313603425530097	0.56846	3.850099	0.0790961557728284	0.43499	2.650366	0.0045372004880548	0.10604	0.615465	0.37627	0	0.588015	0.36545	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.41	-0.524	0.11325	0.925000	0.28392	2.468000	0.32884	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.5775:0.0:0.4225:0.0	10.727	0.45273	936	0.14734	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	56.6	47	chr4	82485718	.	G	C	56.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.194;DP=377;ExcessHet=2.8389;FS=96.99;InbreedingCoeff=-0.2826;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=0.092;SOR=7.114	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,6:43:24:.:.:24,0,561:.	5	0	5	0
chr4	86771306	86771306	T	C	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080684:exon28:c.T4366C:p.S1456P,PTPN13:NM_006264:exon30:c.T4882C:p.S1628P,PTPN13:NM_080683:exon31:c.T4939C:p.S1647P,PTPN13:NM_080685:exon31:c.T4954C:p.S1652P	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0448557247322	.	.	4.527e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs753076514	1.38e-05	1.436e-05	1.37e-05	1.39e-05	0.0009	9.01e-06	7.32e-06	0.0003	0.0002	0	0	0	0	0	0.0009	4.52e-06	4.996e-05	8.361e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.68238	D	0.038	0.51737	D	0.959	0.55135	D	0.636	0.51948	P	0.004913	0.33273	N	0.137959	0.844337	0.35118	D	2.36	0.67893	M	0.54	0.54911	T	-1.72	0.40850	N	0.119	0.15609	-0.7978	0.55274	T	0.172	0.51421	T	10	0.13131833	0.24993	T	0.044856	0.61695	D	0.043	0.11576	0.27	0.21893	0.627538367207	0.62450	0.41166350984062977	0.41082	0.202852445016	0.22704	0.293672204018	0.09461	T	0.122312	0.44590	T	-0.375924	0.03304	T	-0.487622	0.23639	T	0.159702778582098	0.17850	T	0.910509	0.69569	D	0.18274127	0.39508	0.3161105	0.57594	0.18274127	0.39508	0.3161105	0.57593	-3.276	0.15327	T	.	.	0.122	0.33642	B	.;.;.;.;.	.;.;.;.;.	2.798089	0.36800	20.3	0.99859340928503504	0.93820	0.90661	0.52023	D	AEFBI	0.414199	0.48356	N	0.0310790456755908	0.43272	2.623486	0.050478747523644	0.42096	2.540208	0.00956661013010071	0.11876	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.620846	0.47308	0	.	.	5.32	2.84	0.32241	1.531000	0.35624	1.536000	0.27193	0.665000	0.62972	0.938000	0.32564	0.975000	0.29991	0.994000	0.71098	0.0:0.0716:0.1393:0.7891	7.846	0.28586	863	0.32847	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1817.43	35	chr4	86771306	.	T	C	1817.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.1;DP=484;ExcessHet=0;FS=2.77;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.22;ReadPosRankSum=-3.212;SOR=0.495	GT:AD:DP:GQ:PL	0/1:88,74:162:99:1829,0,2220	9	0	1	0
chr4	87195337	87195337	T	A	exonic	KLHL8	.	nonsynonymous SNV	KLHL8:NM_001292003:exon2:c.A203T:p.D68V,KLHL8:NM_001292006:exon2:c.A203T:p.D68V,KLHL8:NM_001292007:exon2:c.A203T:p.D68V,KLHL8:NM_020803:exon2:c.A203T:p.D68V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.712887787306	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1349537086	1.37e-06	2.052e-06	1.363e-06	1.377e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	6.57e-06	6.567e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.046479	1	0.81001	D	4.435	0.98769	H	-2.85	0.91363	D	-7.97	0.96368	D	0.976	0.98657	1.072	0.98636	D	0.909	0.96972	D	10	0.9869686	0.99036	D	0.712888	0.97667	D	0.946	0.98921	0.938	0.99130	0.980709010365	0.98049	0.9197212450678696	0.91948	1.55586283606	0.87969	0.757380068302	0.75540	T	0.771662	0.93893	D	0.486884	0.93919	D	0.461599	0.93841	D	0.999767959117889	0.98882	D	0.969303	0.88939	D	0.9140215	0.92673	0.8546341	0.91816	0.9140215	0.92674	0.8546341	0.91816	-16.154	0.97983	D	.	.	0.996	0.96595	P	.;.;.;.	.;.;.;.	4.938713	0.81482	27.6	0.99307919088402763	0.58869	0.97837	0.77499	D	AEFGBI	0.868725	0.78897	D	0.87722993309663	0.90600	10.47838	0.791917809429253	0.89225	9.88878	0.999999998095101	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.527494	0.11647	0	0.655142	0.61905	0	.	.	5.34	5.34	0.75982	7.502000	0.80447	7.789000	0.68848	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:0.0:0.0:1.0	15.318	0.73804	797	0.45241	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;.;.;BTB/POZ domain|BTB/POZ domain|BTB/POZ 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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	1547.14	33	chr4	87195337	.	T	A	1547.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.242;DP=395;ExcessHet=0.2348;FS=2.486;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.89;ReadPosRankSum=-0.681;SOR=0.483	GT:AD:DP:GQ:PL	0/1:26,31:57:99:771,0,715	8	0	2	0
chr4	87615923	87615924	CA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1074	227	3	1	217	222	0.0108932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615923	.	CA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:75:1|1:87615883_A_G:1125,75,0:87615883	1	4	2	3
chr4	87615925	87615936	GTGACAGCAGCA	0	exonic	DSPP	.	.	.	Deafness, autosomal dominant 39, with dentinogenesis, Autosomal dominant;Dentin dysplasia, type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type II, Autosomal dominant;Dentinogenesis imperfecta, Shields type III, Autosomal dominant	1073	228	3	1	217	222	0.010846	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	443.54	16	chr4	87615925	.	GTGACAGCAGCA	*	443.54	.	AC=10;AF=0.714;AN=14;DP=237;ExcessHet=0;FS=1.018;InbreedingCoeff=0.5238;MLEAC=12;MLEAF=0.857;MQ=50.57;QD=3.33;SOR=0.856	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,25:25:75:1|1:87615883_A_G:1125,75,0:87615883	1	4	2	3
chr4	87845508	87845508	C	A	exonic	MEPE	.	nonsynonymous SNV	MEPE:NM_001184694:exon4:c.C640A:p.H214N,MEPE:NM_001291183:exon4:c.C733A:p.H245N,MEPE:NM_020203:exon4:c.C640A:p.H214N,MEPE:NM_001184695:exon5:c.C301A:p.H101N,MEPE:NM_001184696:exon5:c.C301A:p.H101N,MEPE:NM_001184697:exon6:c.C301A:p.H101N	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.104	0.00806682635962	.	.	3.329e-05	0	0	0	0	0	0.0011	0.0002	3.23e-05	5	154602	rs546864364	1.437e-05	1.436e-05	6.811e-06	2.201e-05	0.0001	9.24e-06	7.84e-06	6.253e-05	4.762e-05	0	0	0	0	0	0	7.196e-06	4.972e-05	0.0001	6.572e-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	0.199	0.22486	T	0.644	0.18846	T	0.958	0.54977	D	0.762	0.56524	P	0.204941	0.03346	N	1.605180	1	0.08975	N	2.25	0.63811	M	0.89	0.45636	T	-4.12	0.75537	D	0.209	0.34659	-1.0325	0.19650	T	0.175	0.51864	T	10	0.21617103	0.38191	T	0.008067	0.21393	T	0.104	0.29647	0.346	0.34112	0.493494165309	0.48982	0.03543365662305646	0.03490	0.209138445766	0.23382	0.285765171051	0.08309	T	0.357678	0.72435	T	-0.465323	0.00910	T	-0.626745	0.10663	T	0.566508412361145	0.35102	D	0.759024	0.38317	T	0.15650588	0.35315	0.1357062	0.32484	0.15650588	0.35314	0.1357062	0.32483	-2.543	0.06286	T	.	.	0.100	0.20702	B	.;.;.;.;.;.	.;.;.;.;.;.	1.296412	0.16976	12.88	0.9483964702501404	0.25629	0.01367	0.04671	N	AEFBI	0.044335	0.07119	N	-0.23393531863186	0.31750	1.783431	-0.448112198697974	0.23602	1.287995	0.0201995692723846	0.13234	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.84	1.84	0.24348	-0.359000	0.07683	0.766000	0.21355	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2046:0.5192:0.174:0.1022	2.641	0.04669	661	0.61838	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	246.43	34	chr4	87845508	.	C	A	246.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.986;DP=371;ExcessHet=0;FS=5.339;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=0.522;SOR=0.2	GT:AD:DP:GQ:PL	0/1:23,12:35:99:258,0,659	9	0	1	0
chr4	99347057	99347057	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.79402	D	0.987	0.61912	D	0.964	0.71005	D	.	.	.	.	.	.	.	1.585	0.39878	L	.	.	.	.	.	.	0.553	0.57860	.	.	.	.	.	.	.	0.45086047	0.58689	T	.	.	.	.	.	.	.	0.456647468687	0.45291	0.8867280223172282	0.88641	.	.	0.398606598377	0.24874	T	0.025436	0.35537	T	0.163225	0.70500	D	-0.00331565	0.70121	D	.	.	.	0.937806	0.78939	D	0.76270866	0.81614	0.69800264	0.82213	0.76270866	0.81615	0.69800264	0.82214	-9.592	0.71430	D	.	.	0.950	0.86857	P	.;.;.	.;.;.	3.454651	0.48119	22.6	0.99707451619795451	0.81074	0.77981	0.38408	D	AEFI	0.799589	0.72581	D	.	.	.	.	.	.	2.3174768173114E-5	0.03498	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	2.86	0.32427	2.765000	0.47304	4.616000	0.44056	0.549000	0.26987	0.378000	0.25989	0.437000	0.24884	0.144000	0.20092	0.0:0.9091:0.0:0.0909	11.418	0.49207	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	1384.73	96	chr4	99347057	.	C	G	1384.73	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.852;DP=1202;ExcessHet=4.5998;FS=272.732;InbreedingCoeff=-0.4818;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=-0.703;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,23:89:43:.:.:43,0,1015:.	3	0	6	1
chr4	112619459	112619459	C	A	exonic	ZGRF1	.	nonsynonymous SNV	ZGRF1:NM_001350397:exon6:c.G583T:p.V195F,ZGRF1:NM_018392:exon6:c.G583T:p.V195F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.0940148483959	0.0002	.	6.617e-05	0.0002	0	0	0	6.01e-05	0	0.0001	5.82e-05	9	154602	rs141361995	7.194e-05	7.319e-05	7.359e-05	7.027e-05	9.318e-05	6.057e-05	5.604e-05	6.704e-05	6.204e-05	8.991e-05	2.253e-05	0	2.522e-05	1.873e-05	0	8.103e-05	1.658e-05	9.318e-05	6.575e-05	6.568e-05	0.0001	2.692e-05	0.0001	3.519e-05	2.618e-05	6.287e-05	4.303e-05	0.0001	0	0	0	0	0	0	5.881e-05	0	0	0.1	0.30515	T	0.024	0.56640	D	0.531	0.37720	P	0.176	0.35644	B	0.830009	0.09113	N	0.898755	1	0.08975	N	2.24	0.63355	M	-1.71	0.83157	D	-0.77	0.26422	N	0.305	0.34444	-0.6176	0.64088	T	0.392	0.74568	T	10	0.08926892	0.15449	T	0.094015	0.76177	D	0.101	0.28911	.	.	0.381239546501	0.37731	0.19837197178050633	0.19754	0.119457425379	0.13450	.	.	.	0.028046	0.20403	T	-0.233169	0.16233	T	-0.293272	0.45432	T	0.0200064294040203	0.00701	T	0.663534	0.27241	T	0.044526327	0.07133	0.057560965	0.10483	0.044526327	0.07132	0.057560965	0.10483	-3.864	0.22617	T	.	.	0.109	0.26232	B	.;.;.	.;.;.	1.114568	0.15000	11.50	0.95394333995462666	0.26837	0.03102	0.08033	N	AEFDBI	0.081585	0.16509	N	-0.657696645011569	0.17236	0.8852362	-0.824882498048091	0.13892	0.7231421	9.43012732456448E-5	0.04910	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.567892	0.33627	0	.	.	4.9	-1.63	0.07900	-0.089000	0.11146	-2.979000	0.03172	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.149000	0.20271	0.2285:0.284:0.4092:0.0784	4.515	0.11337	831	0.39019	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	899.43	35	chr4	112619459	.	C	A	899.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.28;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=-0.157;SOR=0.749	GT:AD:DP:GQ:PL	0/1:59,44:103:99:911,0,1331	9	0	1	0
chr4	121686366	121686366	T	A	exonic	ANXA5	.	stopgain	ANXA5:NM_001154:exon3:c.A16T:p.R6X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	6.841e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000547	0.43413	D	0.311562	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.703	0.73735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.510359	0.94595	D	0.495319	0.94515	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Dominant;.	High;.	7.805906	0.96879	36	0.99822321150720594	0.90502	0.91972	0.54663	D	AEFDBHCI	0.148901	0.27289	N	0.543367224055978	0.69678	5.391389	0.354337543485639	0.58769	4.04962	0.999999999999736	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.616919	0.45865	0	.	.	6.02	4.82	0.61641	3.715000	0.54625	2.201000	0.31287	0.665000	0.62972	0.849000	0.30428	0.951000	0.29025	0.432000	0.27494	0.0:0.0:0.1397:0.8603	12.500	0.55293	761	0.50382	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	826.43	34	chr4	121686366	.	T	A	826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.256;DP=432;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.46;ReadPosRankSum=1.29;SOR=0.71	GT:AD:DP:GQ:PL	0/1:81,47:128:99:838,0,1839	9	0	1	0
chr4	134200395	134200395	C	G	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G625C:p.V209L,PABPC4L:NM_001363585:exon2:c.G625C:p.V209L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0763880608207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.011	0.15914	B	0.019	0.18783	B	.	.	.	.	1	0.08975	N	-0.54	0.02511	N	-1.99	0.85320	D	.	.	.	0.043	0.01577	.	.	.	.	.	.	.	0.047787547	0.04144	T	0.076388	0.72520	D	.	.	.	.	0.886996762563	0.88588	0.2895462314696616	0.28867	.	.	0.353734135628	0.18471	T	0.002578	0.01964	T	-0.13623	0.30492	T	-0.433461	0.29544	T	.	.	.	0.812919	0.46506	T	0.029770393	0.02527	0.09160769	0.21547	0.029770393	0.02526	0.09160769	0.21546	-2.251	0.04295	T	.	.	0.101	0.17402	B	.	.	0.072384	0.04805	1.413	0.78418176329880218	0.12292	0.02313	0.06637	N	AEFDBI	0.081983	0.16595	N	.	.	.	.	.	.	0.997287692517554	0.35456	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.18	-0.609	0.11026	-0.371000	0.07569	-1.799000	0.04705	-0.262000	0.06890	0.000000	0.06391	0.000000	0.08366	0.525000	0.29590	0.1598:0.3182:0.1558:0.3663	0.873	0.01141	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	352.14	44	chr4	134200395	.	C	G	352.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.175;DP=1193;ExcessHet=0.2348;FS=392.746;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=1.83;SOR=9.022	GT:AD:DP:GQ:PL	0/1:107,22:153:99:324,0,3818	8	0	2	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	2255.24	79	chr4	140563137	.	C	G	2255.24	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.837;DP=883;ExcessHet=15.1594;FS=200.301;InbreedingCoeff=-0.8222;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=3.08;ReadPosRankSum=-0.592;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,19:74:99:0|1:140563137_C_G:139,0,1684:140563137	1	0	9	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	2261.8	79	chr4	140563138	.	C	G	2261.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.878;DP=877;ExcessHet=15.1594;FS=206.912;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-0.474;SOR=10.902	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,19:74:99:0|1:140563137_C_G:139,0,1684:140563137	0	0	9	1
chr4	146228305	146228305	C	A	exonic	REELD1	.	nonsynonymous SNV	REELD1:NM_001371071:exon5:c.C691A:p.P231T,REELD1:NM_001354631:exon6:c.C691A:p.P231T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402001407	1.817e-06	1.59e-06	3.962e-06	0	3.155e-06	0	0	.	.	0	0	0	0	0	0	3.155e-06	0	0	6.572e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.5344	0.67375	T	0.211	0.57094	T	4	0.23938566	0.41078	T	.	.	.	.	.	.	.	.	.	0.17775645776824467	0.17694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.471453	0.13989	T	0.04180918	0.06225	0.11350937	0.27396	0.04180918	0.06224	0.11350937	0.27395	-3.363	0.14563	T	.	.	0.085	0.10159	B	.	.	0.720971	0.10903	7.572	0.98139230371771247	0.38588	0.15871	0.19121	N	AEFBI	0.055935	0.10299	N	-0.246946484340159	0.31225	1.748779	-0.318056639423935	0.27516	1.527359	0.973699256604031	0.29478	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.530356	0.10902	0	.	.	5.48	3.7	0.41607	-0.100000	0.10959	-0.093000	0.12034	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.813000	0.38311	0.0:0.7678:0.1507:0.0815	8.717	0.33580	894	0.26265	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	40.96	.	chr4	146228305	.	C	A	40.96	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=20.48;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	6
chr4	146639305	146639305	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.165_166insGGCGGCGGCGGC:p.G68_R69insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs530695040	0.0061	0.0053	0.0060	0.0061	0.0072	0.0059	0.0059	0.0063	0.0062	0.0072	0.0016	0.0020	0.0004	0.0173	0.0013	0.0064	0.0036	0.0006	0.0074	0.0074	0.0071	0.0077	0.0072	0.0070	0.0069	0.0066	0.0064	0.0071	0	0.0048	0.0017	0.0011	0.0235	0	0.0072	0.0054	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	12038.6	40	chr4	146639305	.	T	TGGCGGCGGCGGC	12038.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.128;DP=496;ExcessHet=0.7463;FS=5.287;InbreedingCoeff=-0.1762;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=33.16;ReadPosRankSum=-0.193;SOR=1.063	GT:AD:DP:GQ:PL	0/1:0,9:19:99:812,394,373	9	0	1	0
chr4	151638721	151638721	A	T	exonic	FAM160A1	.	nonsynonymous SNV	FAM160A1:NM_001348694:exon8:c.A1191T:p.L397F,FAM160A1:NM_001109977:exon9:c.A1191T:p.L397F	.	439	1078	4	1	0	6	0.00277521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.264	0.0260345431684	0.0002	0.000998403	0.0007	0	0.0024	0	0	0.0014	0	0	0.0001682	26	154602	rs185879278	0.0004	0.0004	0.0004	0.0004	0.0056	0.0004	0.0004	0.0041	0.0036	0.0004	0.0005	0.0017	0	0.0002	0.0056	0.0003	0.0007	0.0003	0.0004	0.0004	0.0003	0.0004	0.0006	0.0003	0.0003	0.0004	0.0004	0	0	0.0003	0.0017	0	9.441e-05	0.0068	0.0006	0.0009	0.0004	0.017	0.51248	D	0.005	0.72224	D	0.988	0.62325	D	0.966	0.71341	D	.	.	.	.	0.999276	0.46519	D	2.16	0.60381	M	1.35	0.34648	T	-3.33	0.66206	D	0.426	0.46555	-0.9191	0.45675	T	0.128	0.43564	T	9	0.015257478	0.00320	T	0.026035	0.48976	D	0.264	0.57741	0.792	0.91365	0.152612264143	0.14878	0.4303526902390605	0.42952	.	.	0.825795769691	0.85919	D	0.115323	0.43381	T	-0.319585	0.06931	T	-0.334928	0.40917	T	0.118445007863018	0.14277	T	0.877212	0.59013	D	0.2462977	0.47597	0.29951608	0.55985	0.2462977	0.47597	0.29951608	0.55984	-11.181	0.80642	D	.	.	0.196	0.41783	B	.;.	.;.	2.951213	0.39270	20.9	0.99892608135222205	0.96666	0.69698	0.34291	D	AEFBHCI	0.246177	0.36698	N	0.391806070963713	0.60978	4.292937	0.348831817029669	0.58438	4.01419	0.779674773774992	0.23818	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.59	3.15	0.35301	0.766000	0.26225	1.955000	0.29907	0.691000	0.84096	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.782:0.0:0.218:0.0	9.382	0.37483	325	0.86759	.;.	.	.	.	.	.	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	0.004658	0.013699	0.000000	0.000000	0.000000	0.055556	0.000000	0.000000	0.05	960.43	37	chr4	151638721	.	A	T	960.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.099;DP=428;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=0.375;SOR=0.689	GT:AD:DP:GQ:PL	0/1:58,49:107:99:972,0,1204	9	0	1	0
chr4	153581524	153581524	A	C	exonic	TMEM131L	.	nonsynonymous SNV	TMEM131L:NM_001131007:exon9:c.A856C:p.I286L,TMEM131L:NM_015196:exon9:c.A856C:p.I286L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00866851782626	.	.	.	.	.	.	.	.	.	.	.	.	.	rs373560748	6.937e-07	6.84e-07	0	1.396e-06	2.56e-05	0	0	.	.	0	0	0	2.56e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.30375	T	0.047	0.48855	D	0.683	0.41496	P	0.281	0.40336	B	0.004626	0.33547	N	0.290126	0.999856	0.27028	N	2.48	0.72069	M	2.38	0.19311	T	-0.94	0.25770	N	0.359	0.41557	-1.0622	0.11215	T	0.032	0.13898	T	10	0.15880916	0.29855	T	0.008669	0.22903	T	0.084	0.24469	0.434	0.48500	0.043077524339	0.03247	0.3914756277615572	0.39062	0.159689205792	0.18023	0.432423353195	0.29540	T	0.012218	0.25476	T	-0.25085	0.13993	T	-0.419033	0.31186	T	0.452326344737087	0.30882	T	0.847515	0.53996	T	0.063947566	0.13519	0.06786562	0.14099	0.063947566	0.13519	0.06786562	0.14098	-2.401	0.05139	T	.	.	0.169	0.49826	B	.;.;.	.;.;.	2.899368	0.38424	20.7	0.9796323394584876	0.37195	0.79921	0.39701	D	AEFGBI	0.155001	0.28013	N	-0.0620035393958628	0.39068	2.298019	0.0227479410146096	0.40773	2.438752	0.99994331708265	0.47345	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.86	2.11	0.26299	1.330000	0.33387	5.351000	0.48373	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7006:0.0:0.2994:0.0	8.829	0.34231	923	0.18507	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1275.43	34	chr4	153581524	.	A	C	1275.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.873;DP=446;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=1.21;SOR=0.826	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1287,0,1110	9	0	1	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I,PALLD:NM_001367569:exon4:c.G255A:p.M85I,PALLD:NM_001166110:exon5:c.G915A:p.M305I,PALLD:NM_001367568:exon5:c.G306A:p.M102I,PALLD:NM_001367570:exon5:c.G306A:p.M102I,PALLD:NM_001166109:exon12:c.G1230A:p.M410I,PALLD:NM_016081:exon13:c.G2376A:p.M792I,PALLD:NM_001166108:exon14:c.G2427A:p.M809I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.201	0.0305366275154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399	0.21801	T	0.479	0.55759	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999973	0.81001	D	.	.	.	-0.62	0.71895	T	-1.59	0.56787	N	0.698	0.70263	-0.5390	0.67201	T	0.308	0.67867	T	10	0.359553	0.52621	T	0.030537	0.52827	D	0.201	0.48592	.	.	0.711221558017	0.70869	0.507454384894299	0.50667	0.790969623184	0.65777	0.635476946831	0.57922	T	0.084931	0.37388	T	0.0964953	0.63912	D	-0.0991676	0.63462	T	0.720881402492523	0.41743	D	0.822018	0.50309	T	.	.	.	.	.	.	.	.	-9.058	0.70411	D	.	.	0.834	0.80161	P	.;.;.;.;.;.	.;.;.;.;.;.	4.080126	0.60688	24.2	0.96356890166856102	0.29537	0.98354	0.81929	D	AEFBI	0.905065	0.85613	D	0.294826853967169	0.55886	3.752753	0.408467051562211	0.62091	4.418906	0.999999980908939	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.002000	0.88029	11.829000	0.97466	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.714000	0.34579	0.0:0.0:1.0:0.0	19.497	0.95071	949	0.11373	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.35	1321.94	65	chr4	168898669	.	G	A	1321.94	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.208;DP=795;ExcessHet=7.0302;FS=119.457;InbreedingCoeff=-0.5379;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=0.663;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,18:73:99:0|1:168898668_T_C:191,0,1227:168898668	3	0	7	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	495.27	103	chr4	176711629	.	G	C	495.27	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.125;DP=738;ExcessHet=2.8389;FS=92.991;InbreedingCoeff=-0.355;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.696;SOR=9.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,13:79:99:0|1:176711629_G_C:101,0,2425:176711629	5	0	5	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	630.24	103	chr4	176711631	.	G	C	630.24	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-1.638;DP=842;ExcessHet=7.0302;FS=94.732;InbreedingCoeff=-0.6311;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.219;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,13:79:99:0|1:176711629_G_C:101,0,2425:176711629	2	0	7	1
chr4	185372989	185372989	G	A	exonic	LRP2BP	.	nonsynonymous SNV	LRP2BP:NM_001377442:exon5:c.C376T:p.R126W,LRP2BP:NM_001385605:exon5:c.C376T:p.R126W,LRP2BP:NM_001385606:exon5:c.C373T:p.R125W,LRP2BP:NM_001377441:exon6:c.C376T:p.R126W,LRP2BP:NM_001377443:exon6:c.C376T:p.R126W,LRP2BP:NM_018409:exon6:c.C670T:p.R224W,LRP2BP:NM_001377440:exon7:c.C670T:p.R224W,LRP2BP:NM_001385601:exon7:c.C670T:p.R224W,LRP2BP:NM_001385602:exon7:c.C667T:p.R223W,LRP2BP:NM_001385603:exon7:c.C670T:p.R224W,LRP2BP:NM_001385604:exon7:c.C670T:p.R224W	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0291918616054	0.0008	0.000599042	0.0007	0.0003	0.0003	0	0.0002	0.0012	0	0.0001	0.0008409	130	154602	rs144800425	0.0016	0.0016	0.0016	0.0015	0.0019	0.0015	0.0015	0.0019	0.0019	0.0003	0.0007	0	0	1.872e-05	0.0009	0.0019	0.0009	0.0001	0.0010	0.0010	0.0011	0.0009	0.0018	0.0009	0.0008	0.0015	0.0014	0.0003	0	0.0010	0	0	0	0	0.0018	0.0005	0	0.021	0.49613	D	0.015	0.63109	D	0.99	0.68779	D	0.745	0.55870	P	0.269991	0.15147	N	0.689525	0.982208	0.39864	D	2.03	0.55503	M	0.69	0.51714	T	-3.78	0.71519	D	0.501	0.53357	-0.7625	0.57269	T	0.199	0.55400	T	10	0.06423673	0.08489	T	0.029192	0.51742	D	0.238	0.54217	.	.	0.747670682709	0.74539	0.5160079186753213	0.51523	0.642099514815	0.57786	0.216360390186	0.01110	T	0.219323	0.58229	T	-0.397257	0.02413	T	-0.348335	0.39396	T	0.0483231210481984	0.05202	T	0.885811	0.61165	D	0.17707317	0.38654	0.21070154	0.45467	0.17707317	0.38653	0.21070154	0.45466	-7.383	0.56785	T	.	.	0.113	0.24430	B	.;.;.	.;.;.	4.139220	0.62006	24.4	0.99904165215578067	0.97502	0.65357	0.32710	D	AEFBCI	0.446209	0.50237	N	0.411485058973026	0.62052	4.415087	0.384028138940719	0.60580	4.247115	0.999837538425152	0.43792	0.460665	0.09802	0	0.577304	0.33150	0	0.564498	0.18976	0	0.567892	0.33627	0	.	.	6.07	5.18	0.71140	1.832000	0.38791	5.069000	0.47160	0.676000	0.76740	0.773000	0.29391	1.000000	0.68203	0.246000	0.23158	0.0:0.1318:0.7315:0.1368	11.838	0.51615	948	0.11499	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1812.43	33	chr4	185372989	.	G	A	1812.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.72;DP=461;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=0.968;SOR=0.598	GT:AD:DP:GQ:PL	0/1:77,73:150:99:1824,0,1746	9	0	1	0
chr4	186618621	186618621	G	C	exonic	FAT1	.	nonsynonymous SNV	FAT1:NM_005245:exon10:c.C7965G:p.I2655M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.407	0.0380668372533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.678	0.04456	T	0.419	0.14158	T	0.998	0.73220	D	0.98	0.74843	D	0.000015	0.62929	D	0.147981	0.60957	0.30872	N	2.975	0.85398	M	-0.47	0.70133	T	-1.12	0.28906	N	0.695	0.70000	-0.4250	0.71229	T	0.407	0.75649	T	10	0.693799	0.72018	D	0.038067	0.57999	D	0.407	0.71946	0.569	0.69167	0.520320716586	0.51677	0.5896184082154907	0.58891	0.424887816045	0.42902	0.420354455709	0.27884	T	0.263286	0.63496	T	0.111947	0.65554	D	-0.0769723	0.65125	T	0.908119738101959	0.56260	D	0.878612	0.59406	D	0.042714104	0.06527	0.05900426	0.11002	0.042714104	0.06526	0.05900426	0.11001	-9.411	0.70304	D	.	.	0.208	0.43503	B	.;.	.;.	0.264469	0.06425	2.897	0.29584331301718242	0.01576	0.38686	0.26044	N	AEFBCI	0.179948	0.30724	N	-0.584573709258929	0.19412	1.015793	-0.884748766536757	0.12455	0.6407587	0.999806457514557	0.43304	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.2	-5.93	0.02067	-0.148000	0.10203	-0.209000	0.10871	-0.633000	0.04490	0.261000	0.24959	0.003000	0.18671	0.071000	0.16709	0.3635:0.0:0.3161:0.3204	4.874	0.13008	878	0.29785	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2016.43	142	chr4	186618621	.	G	C	2016.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.824;DP=1018;ExcessHet=0;FS=2.834;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=2.16;SOR=0.755	GT:AD:DP:GQ:PL	0/1:72,84:156:99:2028,0,1956	9	0	1	0
chr5	5222813	5222813	C	A	exonic	ADAMTS16	.	nonsynonymous SNV	ADAMTS16:NM_139056:exon11:c.C1630A:p.H544N	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.0341694527389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.41915	T	0.0	0.92824	D	0.999	0.77913	D	0.979	0.78396	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.855	0.49169	L	0.09	0.61443	T	-5.14	0.83292	D	0.693	0.84817	-0.6919	0.60820	T	0.312	0.68264	T	10	0.70376456	0.72607	D	0.034169	0.55491	D	0.289	0.60808	0.425	0.47021	0.694171868089	0.69153	0.724582354132452	0.72402	0.594295628875	0.54749	0.726900875568	0.71054	T	0.118544	0.43944	T	0.0281451	0.55476	T	-0.197348	0.54898	T	0.991635918617249	0.81957	D	0.952605	0.81930	D	0.61072063	0.73266	0.53121805	0.72913	0.61072063	0.73267	0.53121805	0.72913	-12.47	0.87064	D	.	.	0.310	0.63886	B	.;.	.;.	4.522633	0.70923	25.6	0.99074196789169089	0.51810	0.97544	0.75443	D	AEFBI	0.800729	0.72663	D	0.627775984988107	0.74937	6.21851	0.648335723384689	0.78487	6.886166	0.999999999969935	0.74766	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.51	5.51	0.81769	7.191000	0.77294	7.579000	0.60911	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:1.0:0.0:0.0	18.184	0.89721	946	0.12043	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1504.43	34	chr5	5222813	.	C	A	1504.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.323;DP=458;ExcessHet=0;FS=1.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-1.689;SOR=0.806	GT:AD:DP:GQ:PL	0/1:86,69:155:99:1516,0,1958	9	0	1	0
chr5	13900212	13900212	G	T	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon15:c.C2253A:p.N751K	Ciliary dyskinesia, primary, 3, with or without situs inversus	0	1448	72	2	0	76	0.025572	.	.	.	173703	not_provided|Primary_ciliary_dyskinesia|not_specified|Primary_ciliary_dyskinesia_3	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0012085,MedGen:C1837618,OMIM:608644,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.084	.	0.0042	0.00798722	0.0102	0.0008	0.0052	0.0028	0.0038	0.0071	0.0088	0.0385	0.0093401	1444	154602	rs115004914	0.0073	0.0074	0.0061	0.0085	0.0410	0.0072	0.0071	0.0380	0.0376	0.0018	0.0054	0.0136	0.0011	0.0030	0.0410	0.0050	0.0092	0.0391	0.0052	0.0052	0.0046	0.0057	0.0332	0.0049	0.0047	0.0290	0.0274	0.0009	0	0.0077	0.0135	0.0023	0.0012	0.0306	0.0056	0.0057	0.0332	0.981	0.02004	T	.	.	.	0.0	0.02946	B	0.002	0.06944	B	0.032430	0.25031	N	0.480603	0.849946	0.28511	N	-0.085	0.04774	N	0.49	0.55775	T	-0.59	0.17624	N	0.158	0.16447	-1.0150	0.25336	T	0.041	0.17657	T	10	0.0028903186	0.00046	T	.	.	.	0.084	0.24469	0.578	0.70347	.	.	0.20929337985335666	0.20845	0.340553000604	0.35994	0.36459928751	0.20054	T	0.045103	0.27019	T	-0.633746	0.00091	T	-0.654541	0.08639	T	0.0114647865171174	0.00172	T	0.562444	0.19755	T	0.05629839	0.11056	0.061138283	0.11758	0.05629839	0.11056	0.061138283	0.11758	-4.293	0.28079	T	0.05614227209307895	0.01287	0.138	0.30184	B	.	.	2.011412	0.25557	16.81	0.72565165752983651	0.10018	0.65932	0.32904	D	AEFI	0.117440	0.23006	N	-0.638735665786539	0.17789	0.9183943	-0.443612577236373	0.23731	1.295656	0.813525907050886	0.24398	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.51	1.29	0.20717	0.655000	0.24618	2.679000	0.34003	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.997000	0.79791	0.3395:0.0:0.4694:0.1911	5.168	0.14421	754	0.51307	Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.046828	0.060606	0.057065	0.026316	0.100000	0.086207	0.021341	0.034091	0.1	4733.14	35	chr5	13900212	.	G	T	4733.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.078;DP=698;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=2.15;SOR=0.713	GT:AD:DP:GQ:PL	0/1:86,101:187:99:2442,0,2055	8	0	2	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) 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	.	.	.	.	.	.	.	.	0.1111	197.37	36	chr5	14397101	.	T	C	197.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.932;DP=587;ExcessHet=0.2348;FS=142.763;InbreedingCoeff=-0.143;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=0.338;SOR=7.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,16:81:99:0|1:14397101_T_C:120,0,2225:14397101	7	0	2	1
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) 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	.	.	.	.	.	.	.	.	0.05	108.68	36	chr5	14397102	.	G	A	108.68	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.397;DP=595;ExcessHet=0;FS=179.227;InbreedingCoeff=-0.0688;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=0.362;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,16:81:99:0|1:14397101_T_C:120,0,2225:14397101	9	0	1	0
chr5	36269438	36269438	G	A	exonic	RANBP3L	.	nonsynonymous SNV	RANBP3L:NM_001161429:exon4:c.C220T:p.R74W,RANBP3L:NM_001323273:exon4:c.C220T:p.R74W,RANBP3L:NM_001323274:exon4:c.C220T:p.R74W,RANBP3L:NM_001323277:exon4:c.C220T:p.R74W,RANBP3L:NM_001323279:exon4:c.C220T:p.R74W,RANBP3L:NM_145000:exon4:c.C220T:p.R74W	.	434	1085	3	0	0	3	0.00138058	.	.	.	3472298	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.289	0.0637294622383	0.0002	.	0.0002	0	0	0	0	0.0003	0	0.0002	0.0001358	21	154602	rs146572714	9.467e-05	0.0001	8.959e-05	9.977e-05	0.0023	8.158e-05	7.618e-05	0.0013	0.0011	6.067e-05	6.718e-05	0	7.586e-05	1.873e-05	0.0023	7.506e-05	0.0002	0.0002	9.858e-05	9.85e-05	8.995e-05	0.0001	0.0002	6.008e-05	4.881e-05	0.0001	7.895e-05	0	0	6.545e-05	0	0.0002	0	0.0032	0.0002	0	0	0.001	0.78490	D	0.001	0.92824	D	1.0	0.90584	D	0.967	0.71530	D	0.003696	0.34611	N	0.196194	0.995979	0.23150	N	2.74	0.80084	M	-0.69	0.73311	T	-5.25	0.95045	D	0.536	0.57860	-0.3960	0.72153	T	0.509	0.81517	D	10	0.23324361	0.40338	T	0.063729	0.69060	D	0.289	0.60808	.	.	0.434716162284	0.43093	0.36396185831076283	0.36310	0.50988881724	0.49125	0.43246114254	0.29545	T	0.167752	0.51450	T	-0.17896	0.23891	T	-0.188864	0.55697	T	0.72623884677887	0.42016	D	0.963304	0.86380	D	0.3044398	0.53300	0.3089647	0.56913	0.3044398	0.53300	0.3089647	0.56912	-9.08	0.68210	D	.	.	0.229	0.54279	B	.;.;.;.	.;.;.;.	3.864475	0.56067	23.7	0.99889168503194559	0.96359	0.09037	0.14871	N	AEFI	0.155248	0.28041	N	0.138818652263138	0.48283	3.042537	-0.026191991251841	0.38535	2.271774	0.138156256392847	0.17221	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.66	1.13	0.19758	0.920000	0.28325	0.371000	0.17677	0.676000	0.76740	0.395000	0.26129	0.001000	0.17328	0.989000	0.64315	0.0:0.0:0.3576:0.6423	10.375	0.43260	612	0.66786	.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.011696	0.000000	0.000000	0.000000	0.000000	0.1	2741.14	40	chr5	36269438	.	G	A	2741.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.35;DP=500;ExcessHet=0.2348;FS=0.494;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=-0.303;SOR=0.708	GT:AD:DP:GQ:PL	0/1:46,61:107:99:1415,0,897	8	0	2	0
chr5	55941186	55941186	C	T	exonic	IL6ST	.	nonsynonymous SNV	IL6ST:NM_001364279:exon15:c.G1657A:p.V553I,IL6ST:NM_001190981:exon16:c.G2470A:p.V824I,IL6ST:NM_001364275:exon16:c.G2551A:p.V851I,IL6ST:NM_001364278:exon16:c.G1750A:p.V584I,IL6ST:NM_001364276:exon17:c.G2443A:p.V815I,IL6ST:NM_001364277:exon17:c.G1786A:p.V596I,IL6ST:NM_002184:exon17:c.G2653A:p.V885I	.	429	1063	29	1	0	31	0.0143718	.	.	.	699119	IL6ST-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.012	.	0.0017	0.00199681	0.0039	0.0007	0.0005	0	0.0038	0.0021	0.0055	0.0179	0.0035834	554	154602	rs61748224	0.0034	0.0034	0.0029	0.0039	0.0179	0.0033	0.0033	0.0172	0.0169	0.0005	0.0005	0.0002	5.038e-05	0.0038	0.0043	0.0027	0.0032	0.0179	0.0023	0.0023	0.0021	0.0024	0.0159	0.0021	0.0020	0.0131	0.0120	0.0005	0	0.0015	0	0	0.0034	0.0034	0.0027	0.0019	0.0159	0.542	0.09048	T	0.898	0.03108	T	0.001	0.07471	B	0.001	0.04355	B	0.018198	0.01482	N	2.068590	1	0.08975	N	1.465	0.36909	L	1.47	0.37405	T	-0.13	0.08971	N	0.037	0.08925	-1.0498	0.14453	T	0.051	0.21495	T	10	0.002128154	0.00031	T	.	.	.	0.012	0.01476	.	.	0.221890330934	0.21812	0.10698444008061785	0.10628	0.0990729327235	0.11194	0.260153472424	0.04909	T	0.09695	0.39929	T	-0.672632	0.00053	T	-0.724686	0.04572	T	0.000301776266169947	0.00002	T	0.639136	0.25234	T	0.012056755	0.00026	0.021382593	0.00192	0.012056755	0.00026	0.021382593	0.00192	-4.446	0.30176	T	.	.	0.075	0.06849	B	.;.;.;.	.;.;.;.	0.946059	0.13218	9.720	0.54255523894851343	0.05101	0.04110	0.09581	N	AEFGBI	0.072098	0.14377	N	-1.29719264259542	0.03710	0.1661865	-1.26880531825378	0.04859	0.2301829	0.997350499478212	0.35530	0.706548	0.73137	0	0.552637	0.17590	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.73	-0.551	0.11230	0.039000	0.13770	-0.484000	0.08901	-0.181000	0.10308	0.000000	0.06391	0.000000	0.08366	0.317000	0.24900	0.1177:0.4125:0.0:0.4698	6.549	0.21620	834	0.38640	.;.;.;.	.	.	.	.	.	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	1	0	0.006546	0.000000	0.002717	0.011696	0.000000	0.000000	0.012195	0.011364	0.05	1795.43	33	chr5	55941186	.	C	T	1795.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.77;DP=486;ExcessHet=0;FS=1.193;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.26;ReadPosRankSum=-0.668;SOR=0.82	GT:AD:DP:GQ:PL	0/1:97,78:175:99:1807,0,2263	9	0	1	0
chr5	60771922	60771922	G	C	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon3:c.C236G:p.S79C,ELOVL7:NM_024930:exon4:c.C236G:p.S79C,ELOVL7:NM_001297617:exon6:c.C197G:p.S66C	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.0613547569781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368309905	6.851e-07	6.84e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	0.71	0.51228	T	-4.82	0.81107	D	0.919	0.92200	-0.4118	0.71653	T	0.341	0.70713	T	10	0.91465944	0.90828	D	0.061355	0.68304	D	0.681	0.88300	0.774	0.90002	0.610589977033	0.60745	0.7475018586076664	0.74696	0.676802285866	0.59796	0.628733038902	0.56965	T	0.205654	0.56477	T	0.304053	0.83289	D	0.198975	0.83072	D	0.998110771179199	0.93268	D	0.838216	0.51127	T	0.84997267	0.87333	0.69183075	0.81863	0.84997267	0.87335	0.69183075	0.81864	-9.27	0.69419	D	.	.	0.548	0.66743	A	.;.;.;.;.	.;.;.;.;.	5.119921	0.85627	28.7	0.99445181225394774	0.64971	0.99366	0.95088	D	AEFBI	0.941110	0.94395	D	0.93457361501928	0.93347	11.97975	0.920281621337817	0.96398	14.64769	0.999999989364752	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.561000	0.97256	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.279	0.98503	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1244.14	36	chr5	60771922	.	G	C	1244.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.544;DP=463;ExcessHet=0.2348;FS=1.23;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=6.73;ReadPosRankSum=1.11;SOR=0.797	GT:AD:DP:GQ:PL	0/1:60,28:88:99:561,0,1434	8	0	2	0
chr5	65662117	65662117	C	A	exonic	TRAPPC13	.	nonsynonymous SNV	TRAPPC13:NM_001365342:exon9:c.C476A:p.P159H,TRAPPC13:NM_001365343:exon9:c.C476A:p.P159H,TRAPPC13:NM_001093756:exon10:c.C947A:p.P316H,TRAPPC13:NM_001243737:exon10:c.C947A:p.P316H,TRAPPC13:NM_001093755:exon11:c.C965A:p.P322H,TRAPPC13:NM_024941:exon11:c.C965A:p.P322H	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.513	0.0150671539696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.35349	T	0.229	0.25210	T	0.999	0.77913	D	0.947	0.73562	D	0.000001	0.84330	D	0.098476	1	0.81001	D	2.885	0.83555	M	.	.	.	-4.69	0.79743	D	0.808	0.80866	-0.2052	0.77536	T	0.449	0.78425	T	9	0.7833786	0.78041	D	0.015067	0.35586	T	0.513	0.79156	0.545	0.65873	0.262679179196	0.25893	0.6949594956694641	0.69436	1.27824070205	0.82465	0.834807634354	0.87300	D	0.403088	0.75993	T	0.43029	0.91545	D	0.380305	0.91440	D	0.987336924581582	0.77850	D	0.940306	0.77472	D	0.3045037	0.53306	0.41158703	0.65386	0.3045037	0.53306	0.41158703	0.65386	-9.757	0.74763	D	.	.	0.302	0.61750	B	.;.;.;.	.;.;.;.	5.111087	0.85445	28.6	0.99602940714994226	0.74338	0.99072	0.90815	D	AEFGBI	0.868108	0.78811	D	0.821911345905532	0.87455	9.224197	0.807347642672689	0.90300	10.34478	0.999999999346555	0.74766	0.706548	0.73137	0	0.708844	0.79440	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	7.388000	0.79070	7.719000	0.67224	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.610	0.95596	896	0.25515	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1909.14	33	chr5	65662117	.	C	A	1909.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.427;DP=441;ExcessHet=0.2348;FS=3.542;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=0.063;SOR=0.979	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1005,0,952	8	0	2	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T,ANKRD31:NM_001372053:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.0320185438598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.067e-06	5.908e-05	3.014e-06	3.121e-06	3.869e-06	7.2e-07	4.8e-07	9.1e-07	6.1e-07	0	0	0	0	0	0	3.869e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.08	0.76473	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.705	0.44259	L	0.06	0.61798	T	0.5	0.02945	N	0.144	0.33904	-0.9725	0.36670	T	0.133	0.44622	T	7	0.07310486	0.11001	T	0.032019	0.53954	D	0.208	0.49714	0.399	0.42753	0.0666544352282	0.05500	0.1179940654002401	0.11726	.	.	0.431646108627	0.29434	T	6.79E-4	0.00299	T	-0.0895452	0.38151	T	-0.366402	0.37308	T	0.0622141301128149	0.07513	T	0.622038	0.23930	T	0.046649564	0.07844	0.065477386	0.13277	0.046649564	0.07844	0.065477386	0.13277	-3.908	0.22423	T	.	.	0.159	0.35204	B	.;.	.;.	-0.613964	0.01534	0.099	0.95776924258942753	0.27794	0.03341	0.08421	N	AEFI	0.072667	0.14510	N	-0.919827703521214	0.10379	0.4956785	-1.06350639893966	0.08427	0.4143377	9.32791732047118E-5	0.04910	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.14	-2.42	0.06164	-1.019000	0.03733	-0.266000	0.10387	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.627000	0.32078	0.406:0.1456:0.1685:0.28	0.344	0.00315	845	0.36510	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	338.25	123	chr5	75146001	.	A	G	338.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.389;DP=800;ExcessHet=2.8389;FS=86.742;InbreedingCoeff=-0.316;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.96;SOR=9.297	GT:AD:DP:GQ:PL	0/1:50,8:58:10:10,0,1226	5	0	5	0
chr5	76618493	76618493	C	G	exonic	F2RL2	.	nonsynonymous SNV	F2RL2:NM_001256566:exon2:c.G148C:p.E50Q,F2RL2:NM_004101:exon2:c.G214C:p.E72Q	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0112722395922	.	.	.	.	.	.	.	.	.	.	.	.	.	rs997108352	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0003	5.5e-07	1.5e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	6.567e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.154	0.28395	T	0.495	0.16280	T	0.022	0.18677	B	0.01	0.14941	B	0.431532	0.04707	N	1.321060	1	0.08975	N	1.845	0.48678	L	-0.07	0.63738	T	-0.51	0.15986	N	0.063	0.05414	-0.9928	0.31880	T	0.164	0.50094	T	10	0.0758363	0.11772	T	0.011272	0.28723	T	0.051	0.14325	0.329	0.31357	0.597098042045	0.59389	0.3401473192216402	0.33927	0.0546206269692	0.06044	0.239340156317	0.02732	T	0.067172	0.33134	T	-0.21587	0.18561	T	-0.547859	0.17532	T	0.0352957895614699	0.02858	T	0.660434	0.26965	T	0.092090495	0.21597	0.045952443	0.06296	0.092090495	0.21597	0.045952443	0.06295	-4.233	0.27226	T	.	.	0.086	0.10931	B	.;.	.;.	1.180046	0.15702	12.04	0.93977807329749996	0.24056	0.15915	0.19142	N	AEFBI	0.265745	0.38281	N	-0.582830629742811	0.19466	1.019021	-0.504063333757843	0.22041	1.195307	0.999846810878649	0.43971	0.562547	0.31514	0	0.547309	0.14657	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.11	2.97	0.33479	0.142000	0.15917	0.446000	0.18474	0.599000	0.40250	0.000000	0.06391	0.054000	0.21897	0.997000	0.79791	0.1164:0.5405:0.1782:0.1648	4.123	0.09586	832	0.38914	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	640.43	35	chr5	76618493	.	C	G	640.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.286;DP=433;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.67;ReadPosRankSum=-0.042;SOR=0.659	GT:AD:DP:GQ:PL	0/1:63,33:96:99:652,0,1645	9	0	1	0
chr5	79044510	79044510	T	C	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.A788G:p.H263R	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.620	0.0499483824762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.26300	T	0.228	0.25286	T	0.648	0.40583	P	0.172	0.35394	B	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.175	0.60977	M	-1.44	0.80815	T	-1.42	0.34992	N	0.804	0.79986	-0.1303	0.79394	T	0.367	0.72712	T	10	0.64481616	0.69264	D	0.049948	0.64031	D	0.620	0.85249	0.601	0.73226	0.827341243144	0.82571	0.8269855015519543	0.82656	0.611311684803	0.55774	0.558233141899	0.47018	T	0.028244	0.20504	T	0.334612	0.85475	D	0.24287	0.85283	D	0.968468606472015	0.68253	D	0.921908	0.71628	D	0.86606336	0.88552	0.6559207	0.79854	0.86606336	0.88554	0.6559207	0.79855	-8.651	0.65424	D	0.4151006917709649	0.50477	0.852	0.79850	P	.;.	.;.	3.747857	0.53700	23.4	0.99775390252736462	0.86260	0.99126	0.91608	D	AEFBI	0.956026	0.97429	D	0.228138784264105	0.52565	3.430038	0.367314525288217	0.59556	4.134629	0.999998532021457	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	7.857000	0.85305	7.860000	0.71395	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.569	0.76062	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	262.48	102	chr5	79044510	.	T	C	262.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.483;DP=737;ExcessHet=0.7463;FS=139.927;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.782;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,11:93:11:0|1:79044510_T_C:11,0,3190:79044510	7	0	3	0
chr5	79044511	79044511	G	A	exonic	DMGDH	.	nonsynonymous SNV	DMGDH:NM_013391:exon6:c.C787T:p.H263Y	Dimethylglycine dehydrogenase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.393	0.0145784045067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.341	0.12673	T	0.614	0.07592	T	0.029	0.19866	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.485	0.37223	L	-1.46	0.80983	T	0.46	0.03297	N	0.795	0.79118	-0.6303	0.63558	T	0.309	0.67931	T	10	0.5324558	0.63261	D	0.014578	0.34790	T	0.393	0.70844	0.467	0.53891	0.782547463411	0.78053	0.768997685997995	0.76848	0.195931964383	0.21951	0.557169079781	0.46868	T	0.017325	0.14153	T	0.221509	0.75918	D	0.0804058	0.75605	D	0.845702707767487	0.49799	D	0.930507	0.74278	D	0.7260823	0.79502	0.4871424	0.70320	0.7260823	0.79504	0.4871424	0.70320	-2.736	0.07610	T	0.3277913666749117	0.42589	0.213	0.44188	B	.;.	.;.	3.944933	0.57750	23.9	0.99348841113542719	0.60493	0.99470	0.96426	D	AEFBI	0.952969	0.96887	D	0.0628041216277017	0.44734	2.742053	0.2805814258811	0.54406	3.605736	0.999999999489839	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.29	5.29	0.74430	9.792000	0.98216	11.788000	0.96293	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.355	0.94400	624	0.65661	FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	262.48	37	chr5	79044511	.	G	A	262.48	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.903;DP=651;ExcessHet=0.7463;FS=113.664;InbreedingCoeff=-0.1714;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.92;ReadPosRankSum=0.757;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,11:93:11:0|1:79044510_T_C:11,0,3190:79044510	7	0	3	0
chr5	79729769	79729769	C	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.C1004T:p.T335I	.	425	1089	7	1	0	9	0.00411523	.	.	.	699181	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.028	0.0206097304681	0.0048	0.00259585	0.0037	0.0008	0.0033	0	0.0006	0.0058	0.0023	0.0002	0.0036998	572	154602	rs114648445	0.0055	0.0055	0.0056	0.0053	0.0067	0.0054	0.0053	0.0065	0.0065	0.0009	0.0045	0.0005	0	0.0009	0.0042	0.0067	0.0041	0.0002	0.0040	0.0040	0.0045	0.0036	0.0069	0.0038	0.0037	0.0063	0.0061	0.0011	0	0.0051	0.0006	0	0.0005	0.0034	0.0069	0.0071	0.0004	0.006	0.61437	D	0.017	0.60337	D	0.294	0.32391	B	0.084	0.29270	B	0.489480	0.05028	N	1.320480	1	0.08975	N	1.525	0.38595	L	0.94	0.43672	T	-2.43	0.53258	N	0.041	0.01421	-1.0121	0.26259	T	0.047	0.19958	T	10	0.003647387	0.00067	T	0.02061	0.43239	T	0.028	0.06331	.	.	0.126345400529	0.12197	0.15540991095291068	0.15461	0.062845761064	0.07001	0.268238008022	0.05912	T	0.022397	0.17275	T	-0.677556	0.00050	T	-0.740348	0.03876	T	0.0116400521053959	0.00178	T	0.659934	0.26896	T	0.06376495	0.13460	0.060388945	0.11494	0.06376495	0.13460	0.060388945	0.11493	-4.345	0.28802	T	.	.	0.178	0.38818	B	.	.	1.963413	0.24940	16.58	0.96431232832298719	0.29796	0.04836	0.10566	N	AEFBI	0.030879	0.03191	N	-0.869861143908913	0.11564	0.5587535	-0.869707876103559	0.12814	0.6613662	0.999376838953153	0.39355	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.15	3.36	0.37579	0.434000	0.21212	0.391000	0.17890	-0.224000	0.07868	0.000000	0.06391	0.000000	0.08366	0.186000	0.21481	0.2023:0.565:0.0:0.2327	3.333	0.06675	422	0.81333	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.020202	0.002717	0.008772	0.000000	0.000000	0.003049	0.000000	0.05	1599.43	122	chr5	79729769	.	C	T	1599.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.721;DP=933;ExcessHet=0;FS=1.4;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.804;SOR=0.542	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1611,0,1682	9	0	1	0
chr5	90776525	90776525	A	C	exonic	ADGRV1	.	nonsynonymous SNV	ADGRV1:NM_032119:exon61:c.A12476C:p.H4159P	Usher syndrome, type 2C, Autosomal recessive, Digenic dominant;Usher syndrome, type 2C, GPR98/PDZD7 digenic, Autosomal recessive, Digenic dominant	0	1510	12	0	0	12	0.00395778	.	.	.	55425	Usher_syndrome_type_2C|ADGRV1-related_disorder|not_provided|not_specified	MONDO:MONDO:0011558,MedGen:C2931213,OMIM:605472,Orphanet:231178,Orphanet:886|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.0797468953248	.	0.000199681	0.0007	0	0.0003	0	0	0.0002	0.0011	0.0046	0.0006339	98	154602	rs200805176	0.0004	0.0004	0.0003	0.0006	0.0054	0.0004	0.0004	0.0050	0.0048	2.991e-05	0.0004	0	2.52e-05	0	0.0014	0.0001	0.0002	0.0054	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0016	2.406e-05	0	0.0001	0	0	0	0	0.0002	0	0.0031	0.206	0.19927	T	0.026	0.55759	D	0.75	0.43260	P	0.129	0.32841	B	0.003992	0.34245	N	0.345671	0.999978	0.18612	N	.	.	.	1.7	0.26885	T	-3.14	0.64019	D	0.748	0.74735	-1.0956	0.04667	T	0.051	0.21728	T	10	0.0070364773	0.00160	T	0.079747	0.73305	D	0.154	0.40340	.	.	0.531245695338	0.52774	0.8298226513851884	0.82940	0.268375754583	0.29358	0.393307089806	0.24135	T	0.185223	0.53812	T	-0.422538	0.01648	T	-0.378632	0.35882	T	0.0607050603765	0.07279	T	0.750125	0.37153	T	0.27674827	0.50735	0.30319402	0.56351	0.34527615	0.56697	0.31515864	0.57503	-7.66	0.58729	D	.	.	0.262	0.51738	B	.;.;.	.;.;.	1.798782	0.22867	15.79	0.31134737426357267	0.01739	0.86384	0.45653	D	AEFBI	0.735667	0.68141	D	-0.117023731123837	0.36651	2.121414	-0.136588157486423	0.33928	1.94607	0.155259806287711	0.17506	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.03	5.03	0.67015	4.189000	0.58156	4.412000	0.43285	-0.055000	0.16736	0.925000	0.32113	0.950000	0.28999	0.022000	0.11911	1.0:0.0:0.0:0.0	14.712	0.68856	654	0.62520	.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.1	4076.14	34	chr5	90776525	.	A	C	4076.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.485;DP=625;ExcessHet=0.2348;FS=4.215;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=2.29;SOR=0.718	GT:AD:DP:GQ:PL	0/1:72,104:176:99:2313,0,1464	8	0	2	0
chr5	102270770	102270770	G	A	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.C656T:p.T219I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0115028280006	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175652348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.32e-05	1.315e-05	1.289e-05	1.352e-05	1.472e-05	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.472e-05	0.0005	0	0.142	0.25457	T	0.256	0.23298	T	0.038	0.21002	B	0.103	0.30945	B	0.114133	0.02666	N	1.718550	1	0.08975	N	1.27	0.32069	L	1.09	0.39223	T	-2.68	0.57275	D	0.157	0.16308	-1.0216	0.23195	T	0.093	0.35336	T	10	0.06457871	0.08585	T	0.011503	0.29187	T	0.013	0.01715	0.505	0.59924	0.104622674875	0.10061	0.2586394306084872	0.25777	0.0495080261756	0.05423	0.311373412609	0.12114	T	0.040704	0.25615	T	-0.240781	0.15248	T	-0.583642	0.14221	T	0.113470774417171	0.13780	T	0.229177	0.03066	T	0.07753631	0.17604	0.073808745	0.16079	0.07753631	0.17604	0.073808745	0.16078	-4.183	0.26505	T	.	.	0.078	0.06663	B	.	.	0.696501	0.10651	7.351	0.97305176174551633	0.33299	0.03945	0.09343	N	AEFBI	0.071942	0.14339	N	-1.05011044505534	0.07585	0.3528671	-1.09197903977378	0.07857	0.3839092	0.0203658458362758	0.13251	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	-1.11	0.09336	-0.445000	0.06918	-0.879000	0.07072	-0.667000	0.04321	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.1348:0.1105:0.3048:0.4499	2.952	0.05506	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily 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	.	.	.	.	.	.	.	.	0.2222	910.05	51	chr5	102270770	.	G	A	910.05	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.065;DP=424;ExcessHet=1.5895;FS=179.287;InbreedingCoeff=-0.291;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=4.92;ReadPosRankSum=1.44;SOR=6.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,23:51:99:.:.:416,0,182:.	5	0	4	1
chr5	102270771	102270771	T	C	exonic	SLCO4C1	.	nonsynonymous SNV	SLCO4C1:NM_180991:exon3:c.A655G:p.T219A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00737551040094	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.667e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02141	T	0.765	0.04555	T	0.001	0.07471	B	0.008	0.13708	B	0.114133	0.02666	N	1.718550	1	0.08975	N	0.195	0.09149	N	1.2	0.37405	T	-0.41	0.14000	N	0.126	0.11912	-1.0613	0.11434	T	0.060	0.24981	T	10	0.033189237	0.01488	T	0.007376	0.19576	T	0.035	0.08770	0.398	0.42590	0.0954503805726	0.09146	0.173178965912641	0.17237	0.04234262313	0.04565	0.265042543411	0.05506	T	0.005402	0.04851	T	-0.294574	0.09181	T	-0.660912	0.08205	T	0.0230593997985125	0.01031	T	0.171083	0.01625	T	0.031705566	0.03059	0.026906235	0.00808	0.031705566	0.03059	0.026906235	0.00808	-3.985	0.23578	T	.	.	0.063	0.01512	B	.	.	-0.611083	0.01542	0.100	0.21569347130836103	0.00828	0.05116	0.10920	N	AEFBI	0.081174	0.16422	N	-1.05674882497369	0.07456	0.3464054	-1.03940957767455	0.08928	0.4414944	0.0182638168567323	0.13039	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.72	0.664	0.17060	-0.710000	0.05127	-0.485000	0.08896	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.1385:0.3532:0.0:0.5083	4.822	0.12759	344	0.85734	Major facilitator superfamily domain|Major facilitator superfamily 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	.	.	.	.	.	.	.	.	0.1111	287.37	61	chr5	102270771	.	T	C	287.37	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-0.907;DP=427;ExcessHet=0.2348;FS=55.455;InbreedingCoeff=-0.1429;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=3.02;ReadPosRankSum=1.64;SOR=6.358	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,15:52:99:.:.:170,0,867:.	7	0	2	1
chr5	103097730	103097730	G	A	exonic	GIN1	.	nonsynonymous SNV	GIN1:NM_001317954:exon4:c.C250T:p.H84Y,GIN1:NM_017676:exon5:c.C691T:p.H231Y	.	434	1066	21	1	0	23	0.0106729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.00507646745747	0.0013	0.000798722	0.0012	0.0002	0.0011	0.0003	0	0.0015	0	0.0016	0.0011772	182	154602	rs199822018	0.0014	0.0014	0.0014	0.0014	0.0030	0.0013	0.0013	0.0019	0.0016	0.0004	0.0012	0.0014	5.058e-05	0.0003	0.0030	0.0015	0.0016	0.0013	0.0009	0.0009	0.0011	0.0007	0.0014	0.0008	0.0007	0.0012	0.0011	0.0004	0	0.0008	0.0009	0.0002	9.432e-05	0	0.0014	0.0009	0.0014	1.0	0.00964	T	0.812	0.03921	T	0.0	0.02946	B	0.0	0.01387	B	0.304663	0.14537	N	0.631229	1	0.81001	D	-0.035	0.05024	N	1.01	0.41058	T	0.22	0.04694	N	0.129	0.12341	-1.0706	0.09282	T	0.079	0.31344	T	10	0.010161459	0.00227	T	0.005076	0.12846	T	0.126	0.34673	.	.	0.571693661435	0.56835	0.4147408953700763	0.41390	0.176853875943	0.19898	0.356300324202	0.18846	T	0.01079	0.09704	T	-0.531869	0.00374	T	-0.561397	0.16246	T	0.00412962397080044	0.00044	T	0.644036	0.25562	T	0.049704887	0.08865	0.051513836	0.08304	0.049704887	0.08865	0.051513836	0.08303	-3.382	0.14815	T	.	.	0.072	0.04119	B	.	.	1.229497	0.16240	12.41	0.27303995941872417	0.01349	0.70487	0.34611	D	AEFBI	0.161841	0.28794	N	-0.240568954531298	0.31481	1.765702	-0.0920224336892937	0.35718	2.069852	0.00289378978847287	0.09781	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.66	4.61	0.56724	3.376000	0.52148	2.545000	0.33235	0.676000	0.76740	1.000000	0.71638	0.998000	0.33993	0.146000	0.20164	0.1729:0.0:0.8271:0.0	7.609	0.27288	931	0.16308	Integrase, catalytic core	.	.	.	.	.	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	0.005040	0.005102	0.008152	0.000000	0.000000	0.017241	0.003049	0.000000	0.05	866.43	59	chr5	103097730	.	G	A	866.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.177;DP=456;ExcessHet=0;FS=2.829;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.75;ReadPosRankSum=-0.267;SOR=0.415	GT:AD:DP:GQ:PL	0/1:59,40:99:99:878,0,1592	9	0	1	0
chr5	113488342	113488342	-	GCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGCAGC:p.S24_S25insGS	Colorectal cancer, somatic	363	127	276	540	216	1572	0.842236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.0034	0.0012	0	0.0243	0.0030	0.0081	0.0015	0.0001537	4	26028	rs775732898	0.0024	0.0026	0.0024	0.0024	0.0026	0.0023	0.0023	0.0021	0.0019	0.0026	0.0006	4.185e-05	3.23e-05	0.0173	0.0005	0.0020	0.0017	0.0020	0.0043	0.0044	0.0034	0.0053	0.0040	0.0040	0.0039	0.0035	0.0033	0.0040	0	0.0010	0	0	0.0283	0.0034	0.0024	0.0019	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	28670.6	128	chr5	113488342	.	T	TGCTGCC	28670.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.117;DP=1166;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=27.44;ReadPosRankSum=0;SOR=0.706	GT:AD:DP:GQ:PL	0/1:0,23:73:99:2096,1250,1812	9	0	1	0
chr5	128288438	128288438	C	G	exonic	FBN2	.	nonsynonymous SNV	FBN2:NM_001999:exon53:c.G6757C:p.D2253H	Contractural arachnodactyly, congenital, Autosomal dominant;Macular degeneration, early-onset, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	0.430626382782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.694607	0.10146	N	0.852832	1	0.81001	D	3.835	0.95663	H	-5.39	0.99055	D	-5.33	0.84601	D	0.946	0.95374	1.101	0.99694	D	0.983	0.99482	D	9	0.98123467	0.98137	D	0.430626	0.93974	D	0.879	0.96428	0.905	0.97985	0.931387637819	0.93068	0.9248113223682665	0.92458	0.944348631935	0.72353	0.844889104366	0.88841	D	0.843142	0.96360	D	0.584583	0.97082	D	0.601936	0.97034	D	0.999141216278076	0.96328	D	0.989326	0.96464	D	0.6636905	0.76096	0.6756067	0.80952	0.6636905	0.76098	0.6756067	0.80952	-14.719	0.95159	D	.	.	0.995	0.95383	P	.;.;.	.;.;.	6.541209	0.95375	34	0.99491875384234207	0.67516	0.99662	0.98450	D	AEFBI	0.955192	0.97285	D	0.930340387445476	0.93165	11.86249	0.848877612808232	0.92950	11.73124	0.999999999969448	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.86	4.86	0.62624	7.905000	0.86479	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:1.0:0.0:0.0	18.546	0.90998	733	0.53988	EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-binding domain;EGF-like calcium-binding domain|EGF-like domain|EGF-like calcium-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	.	.	.	.	.	.	.	.	0.25	151.08	54	chr5	128288438	.	C	G	151.08	.	AC=2;AF=0.25;AN=8;BaseQRankSum=-1.632;DP=606;ExcessHet=0.2633;FS=262.712;InbreedingCoeff=-0.4006;MLEAC=4;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=2.15;SOR=8.409	GT:AD:DP:GQ:PL	0/1:69,33:102:84:84,0,841	2	0	2	6
chr5	132484464	132484464	C	T	exonic	IRF1	.	nonsynonymous SNV	IRF1:NM_001354924:exon8:c.G628A:p.V210M,IRF1:NM_002198:exon9:c.G751A:p.V251M	Gastric cancer, somatic;Myelodysplastic syndrome, preleukemic (3);Myelogenous leukemia, acute (3);Nonsmall cell lung cancer, somatic	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.241006391943	0.0002	0.000199681	6.59e-05	0	0	0	0	8.992e-05	0	0.0001	6.47e-05	10	154602	rs201857248	2.394e-05	2.394e-05	2.314e-05	2.475e-05	5.974e-05	1.738e-05	1.539e-05	1.627e-05	1.382e-05	5.974e-05	0	0.0002	0	0	0	2.338e-05	0	3.478e-05	3.282e-05	3.281e-05	0	6.711e-05	5.88e-05	1.26e-05	7.97e-06	1.972e-05	1.124e-05	0	0	0	0.0003	0	0	0	5.88e-05	0	0	0.006	0.61437	D	0.021	0.58089	D	0.96	0.55278	D	0.483	0.47159	P	0.002704	0.36068	N	0.311359	0.533751	0.31469	N	2.535	0.73915	M	-5.38	0.99045	D	-0.67	0.19297	N	0.388	0.44283	0.985	0.96942	D	0.908	0.96936	D	10	0.2780866	0.45378	T	0.241006	0.88699	D	0.406	0.71869	.	.	0.776277967208	0.77421	0.19775666818965126	0.19692	1.56442157667	0.88085	0.489154726267	0.37321	T	0.311045	0.68296	T	0.218605	0.75644	D	0.257762	0.85989	D	0.266361085684498	0.23591	T	0.932007	0.74652	D	0.06287823	0.13181	0.05264306	0.08714	0.06287823	0.13180	0.05264306	0.08714	-4.14	0.25877	T	0.27865070195852165	0.37359	0.161	0.35767	B	.;.	.;.	3.996972	0.58871	24.0	0.99861502678415859	0.94002	0.62482	0.31795	D	AEFGBHCI	0.074862	0.15018	N	0.176077236314042	0.50052	3.199021	0.163096340398854	0.47841	3.008266	0.999999893597189	0.74766	0.675202	0.55065	0	0.67197	0.64623	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.67	3.62	0.40616	1.307000	0.33121	3.318000	0.37521	0.599000	0.40250	0.837000	0.30238	0.998000	0.33993	0.958000	0.51230	0.0:0.6157:0.0:0.3843	4.956	0.13390	770	0.49152	Interferon regulatory factor DNA-binding domain;Interferon regulatory factor DNA-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	875.43	35	chr5	132484464	.	C	T	875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.701;DP=451;ExcessHet=0;FS=0.809;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=1.87;SOR=0.859	GT:AD:DP:GQ:PL	0/1:52,37:89:99:887,0,1245	9	0	1	0
chr5	132575843	132575843	A	C	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon3:c.A280C:p.I94L	Nijmegen breakage syndrome-like disorder	9	1496	15	2	0	19	0.0063102	.	.	YES	133469	Familial_cancer_of_breast|Hereditary_cancer-predisposing_syndrome|not_specified|Nijmegen_breakage_syndrome-like_disorder|not_provided	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.071	0.00370107637619	0.0035	0.00359425	0.0035	0.0005	0.0027	0.0005	0.0021	0.0038	0.0033	0.0067	0.0036416	563	154602	rs28903085	0.0046	0.0046	0.0046	0.0046	0.0064	0.0045	0.0044	0.0051	0.0050	0.0008	0.0027	0.0051	7.572e-05	0.0010	0.0064	0.0050	0.0044	0.0055	0.0032	0.0032	0.0033	0.0031	0.0050	0.0029	0.0029	0.0045	0.0044	0.0009	0	0.0029	0.0058	0	0.0006	0.0204	0.0050	0.0038	0.0050	0.355	0.12109	T	0.231	0.25061	T	0.0	0.02946	B	0.003	0.08700	B	0.154400	0.17862	N	0.624374	1	0.81001	D	0.705	0.18577	N	3.34	0.06063	T	-1.12	0.28906	N	0.173	0.18512	-0.9428	0.42169	T	0.006	0.01944	T	10	0.0056197047	0.00125	T	0.003701	0.08558	T	0.071	0.20720	0.479	0.55823	0.225215365344	0.22153	0.4625633739563243	0.46174	.	.	0.303806602955	0.10971	T	0.062857	0.32026	T	-0.591207	0.00165	T	-0.618975	0.11265	T	0.003923648792296	0.00042	T	0.712729	0.32446	T	0.069781214	0.15317	0.052480403	0.08654	0.060842693	0.12531	0.061767086	0.11978	-4.37	0.29147	T	0.14829878222634302	0.17253	0.069	0.06617	B	.;.	.;.	0.216433	0.05992	2.434	0.85440592474170685	0.15894	0.13966	0.18150	N	AEFGBI	0.161992	0.28812	N	-1.43382704564989	0.02347	0.103534	-1.46262742958979	0.02658	0.1226273	0.964669951324794	0.28776	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.75	-10.2	0.00305	-0.012000	0.12637	-0.471000	0.08978	-0.562000	0.04833	0.026000	0.20160	0.000000	0.08366	0.981000	0.58702	0.1954:0.0:0.6292:0.1754	11.719	0.50934	820	0.40914	Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.006552	0.005102	0.001359	0.023392	0.000000	0.008621	0.003049	0.000000	0.05	208.43	35	chr5	132575843	.	A	C	208.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.349;DP=338;ExcessHet=0;FS=5.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.72;ReadPosRankSum=0.827;SOR=1.112	GT:AD:DP:GQ:PL	0/1:20,11:31:99:220,0,462	9	0	1	0
chr5	138947265	138947265	C	A	exonic	SIL1	.	nonsynonymous SNV	SIL1:NM_022464:exon10:c.G1238T:p.R413L,SIL1:NM_001037633:exon11:c.G1238T:p.R413L	Marinesco-Sjogren syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1983519	Marinesco-Sjögren_syndrome	MONDO:MONDO:0009567,MedGen:C0024814,OMIM:248800,Orphanet:559	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.037	0.0157876213245	.	0.000599042	9.221e-05	0.0007	8.681e-05	0	0	4.595e-05	0	0	9.06e-05	14	154602	rs138448654	1.095e-05	1.094e-05	9.533e-06	1.238e-05	0.0002	6.48e-06	5.25e-06	9.75e-05	6.95e-05	0.0002	2.236e-05	0	0	0	0	5.396e-06	1.656e-05	1.159e-05	7.879e-05	7.874e-05	7.709e-05	8.057e-05	0.0002	4.494e-05	3.51e-05	9.543e-05	6.947e-05	0.0002	0	0.0002	0	0	0	0	0	0.0005	0	0.269	0.16466	T	0.272	0.22627	T	0.006	0.19866	B	0.008	0.16862	B	0.006084	0.32280	N	0.330554	0.605106	0.32572	D	1.5	0.37844	L	0.69	0.51714	T	-2.22	0.49846	N	0.255	0.37197	-1.0451	0.15796	T	0.064	0.26349	T	10	0.020192474	0.00461	T	0.015788	0.36715	T	0.037	0.09474	.	.	0.144782658237	0.14088	0.23685197402132907	0.23600	0.294378152891	0.31862	0.236978426576	0.02525	T	0.314835	0.68649	T	-0.383472	0.02962	T	-0.472451	0.25253	T	0.0206605222593954	0.00766	T	0.785621	0.42343	T	0.19099693	0.40708	0.0959427	0.22775	0.19099693	0.40708	0.0959427	0.22774	-6.253	0.48349	T	0.12874792237830396	0.13370	0.089	0.12844	B	.;.;.	.;.;.	0.734675	0.11040	7.695	0.96452535967655784	0.29869	0.22554	0.21785	N	AEFDGBI	0.245356	0.36631	N	-0.936741752073659	0.09992	0.4754366	-0.912101632249898	0.11808	0.6038366	0.999428884523404	0.39630	0.706548	0.73137	0	0.702456	0.74545	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.75	-0.148	0.12767	-0.137000	0.10369	-0.100000	0.11953	-0.182000	0.10109	0.002000	0.15269	0.000000	0.08366	0.645000	0.32557	0.1371:0.6302:0.0:0.2327	6.167	0.19611	505	0.75648	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1213.43	36	chr5	138947265	.	C	A	1213.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.73;DP=471;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=1.6;SOR=0.685	GT:AD:DP:GQ:PL	0/1:90,55:145:99:1225,0,2035	9	0	1	0
chr5	140042972	140042972	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon1:c.G98A:p.S33N,NRG2:NM_004883:exon1:c.G98A:p.S33N,NRG2:NM_013981:exon1:c.G98A:p.S33N,NRG2:NM_013982:exon1:c.G98A:p.S33N,NRG2:NM_013983:exon1:c.G98A:p.S33N	.	404	1109	8	0	1	9	0.00359389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.592067125988	.	0.000798722	0.0025	0	0.0072	0	0	0.0047	0	0.0011	0.000912	141	154602	rs545945148	0.0020	0.0020	0.0021	0.0019	0.0046	0.0019	0.0019	0.0031	0.0027	0.0004	0.0016	0.0011	0	0.0005	0.0046	0.0023	0.0019	0.0008	0.0015	0.0015	0.0016	0.0015	0.0028	0.0014	0.0013	0.0025	0.0024	0.0005	0	0.0005	0.0006	0	0.0002	0.0137	0.0028	0.0014	0.0004	0.006	0.61437	D	0.231	0.46862	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.998216	0.22287	N	0	0.06538	N	-1.2	0.78537	T	-0.34	0.13226	N	0.282	0.44666	-0.9628	0.38645	T	0.182	0.52934	T	9	0.0074237287	0.00169	T	0.592067	0.96380	D	0.168	0.42943	.	.	0.674271225012	0.67151	0.042334487245033775	0.04178	0.738883210993	0.63125	0.70426940918	0.67761	T	0.198508	0.55551	T	-0.0993076	0.36540	T	-0.380425	0.35672	T	0.0246889617220249	0.01233	T	0.713829	0.32570	T	0.12335766	0.28967	0.23743413	0.49040	0.12335766	0.28967	0.23743413	0.49039	-6.854	0.53033	T	.	.	0.143	0.31583	B	.;.;.;.;.	.;.;.;.;.	2.281318	0.29170	18.04	0.94571245144277283	0.25104	0.05671	0.11587	N	ALL	0.060884	0.11602	N	-0.945632618069172	0.09791	0.4649574	-0.913911390581343	0.11765	0.6014047	0.9999997434968	0.74766	0.437478	0.07067	0	0.484254	0.07192	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.59	-0.475	0.11501	0.468000	0.21763	.	.	0.298000	0.18894	0.024000	0.20007	1.000000	0.68203	0.319000	0.24947	0.0:0.5666:0.1537:0.2798	5.306	0.15110	44	0.97806	.;.;.;.;.	.	.	.	.	.	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	0.004663	0.000000	0.006983	0.002959	0.000000	0.000000	0.006452	0.000000	0.05	681.43	27	chr5	140042972	.	C	T	681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.722;DP=361;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=1.88;SOR=0.836	GT:AD:DP:GQ:PL	0/1:20,28:48:99:693,0,421	9	0	1	0
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4444	5820.05	170	chr5	141303081	.	A	G	5820.05	.	AC=8;AF=0.444;AN=18;BaseQRankSum=-3.609;DP=2013;ExcessHet=10.3881;FS=210.687;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.79;ReadPosRankSum=1.97;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:167,52:219:99:.:.:702,0,3853:.	1	0	8	1
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	1816.95	39	chr5	141400463	.	A	G	1816.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-6.363;DP=2409;ExcessHet=7.0302;FS=249.381;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=59.97;MQRankSum=0;QD=0.97;ReadPosRankSum=0.964;SOR=12.843	GT:AD:DP:GQ:PL	0/1:182,74:256:99:247,0,3092	3	0	7	0
chr5	148100493	148100493	A	C	exonic	SPINK5	.	nonsynonymous SNV	SPINK5:NM_001127698:exon13:c.A1132C:p.K378Q,SPINK5:NM_001127699:exon13:c.A1132C:p.K378Q,SPINK5:NM_006846:exon13:c.A1132C:p.K378Q	Atopy, Autosomal dominant;Netherton syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	.	721288	Ichthyosis_linearis_circumflexa|not_provided|Netherton_syndrome	Human_Phenotype_Ontology:HP:0025810,MONDO:MONDO:0043106,MedGen:C0265962|MedGen:C3661900|MONDO:MONDO:0009735,MedGen:C5574950,OMIM:256500,Orphanet:634	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.154	0.00402199626562	0.0004	0.000399361	0.0009	0	0.0003	0	0	0.0015	0	0.0005	0.0008215	127	154602	rs180696183	0.0007	0.0007	0.0007	0.0007	0.0006	0.0007	0.0007	0.0005	0.0005	2.991e-05	0.0005	0.0103	0	3.745e-05	0.0005	0.0006	0.0009	0.0005	0.0006	0.0006	0.0007	0.0006	0.0009	0.0005	0.0005	0.0006	0.0004	4.813e-05	0	0.0009	0.0112	0	9.416e-05	0	0.0005	0.0024	0.0002	0.346	0.14546	T	0.083	0.43913	T	0.948	0.53620	P	0.662	0.52860	P	0.725753	0.09897	N	0.834455	1	0.08975	N	1.485	0.37223	L	3.24	0.06845	T	-1.03	0.28497	N	0.127	0.17416	-0.9944	0.31459	T	0.023	0.09832	T	10	0.0051361322	0.00111	T	0.004022	0.09556	T	0.154	0.40340	.	.	0.230578612272	0.22657	0.31357427667710336	0.31270	0.376120761263	0.39054	0.298448562622	0.10170	T	0.104422	0.41396	T	-0.536014	0.00354	T	-0.641281	0.09576	T	0.0234241331571304	0.01074	T	0.10319	0.01049	T	0.07486337	0.16830	0.042472124	0.05065	0.08480792	0.19644	0.04110768	0.04597	-6.081	0.46952	T	0.23810191242876905	0.32248	0.146	0.34116	B	.;.;.;.	.;.;.;.	1.411260	0.18263	13.64	0.93947337820364407	0.24005	0.01808	0.05634	N	AEFGBI	0.045896	0.07560	N	-0.582262187868424	0.19483	1.020075	-0.674777406870752	0.17593	0.936136	0.0126359290224743	0.12354	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.69	0.63	0.16865	0.676000	0.24927	-0.196000	0.10991	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.5309:0.4691:0.0:0.0	10.150	0.41966	843	0.36859	.;.;Kazal domain|Kazal domain;Kazal domain|Kazal 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	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1947.43	160	chr5	148100493	.	A	C	1947.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.687;DP=1136;ExcessHet=0;FS=1.75;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.84;ReadPosRankSum=1.39;SOR=0.681	GT:AD:DP:GQ:PL	0/1:109,89:198:99:1959,0,2474	9	0	1	0
chr5	151545407	151545407	A	G	exonic	FAT2	.	nonsynonymous SNV	FAT2:NM_001447:exon10:c.T5720C:p.I1907T	.	436	1075	10	1	0	12	0.00555042	.	.	.	1936468	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.670	.	0.0040	0.00459265	0.0053	0.0012	0.0016	0.0014	0.0045	0.0070	0	0.0062	0.0049935	772	154602	rs150700679	0.0048	0.0048	0.0047	0.0049	0.0062	0.0047	0.0047	0.0057	0.0056	0.0006	0.0020	0.0003	0.0016	0.0038	0.0040	0.0052	0.0040	0.0062	0.0034	0.0034	0.0034	0.0034	0.0052	0.0031	0.0030	0.0048	0.0046	0.0010	0.0066	0.0014	0	0.0017	0.0041	0.0170	0.0052	0.0043	0.0044	0.001	0.78490	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000035	0.55875	D	0.000000	0.999999	0.58761	D	4.085	0.97236	H	-0.06	0.63568	T	-4.44	0.77637	D	0.84	0.83576	0.259	0.86898	D	0.464	0.79279	T	10	0.023783743	0.00633	T	.	.	.	0.670	0.87771	.	.	0.869812394341	0.86854	0.9105959517069652	0.91033	0.590464889285	0.54506	0.56543970108	0.48034	T	0.536244	0.84040	D	-0.106823	0.35293	T	0.0770862	0.75382	D	0.0645398705542823	0.07863	T	0.849515	0.53247	T	0.6571095	0.75744	0.6362872	0.78764	0.6571095	0.75745	0.6362872	0.78765	-11.223	0.80867	D	.	.	0.683	0.72275	P	.	.	4.418024	0.68405	25.2	0.99826867231983962	0.90939	0.97670	0.76297	D	AEFBCI	0.862476	0.78077	D	0.874747787824874	0.90470	10.41802	0.773415405742847	0.87891	9.381685	0.999999851143436	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.88	4.88	0.63131	9.249000	0.94640	9.413000	0.80714	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.774000	0.36673	1.0:0.0:0.0:0.0	14.480	0.67152	889	0.27310	Cadherin-like	.	.	.	.	rs150700679	Likely benign	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	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.012195	0.000000	0.05	1668.43	105	chr5	151545407	.	A	G	1668.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.084;DP=965;ExcessHet=0;FS=1.617;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.74;ReadPosRankSum=0.02;SOR=0.738	GT:AD:DP:GQ:PL	0/1:40,66:106:99:1680,0,917	9	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3125	695.79	120	chr5	154834880	.	G	C	695.79	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.947;DP=1265;ExcessHet=2.8389;FS=294.497;InbreedingCoeff=-0.4324;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.554;SOR=10.414	GT:AD:DP:GQ:PL	0/1:89,33:138:99:156,0,1644	3	0	5	2
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	43716.6	395	chr5	157052557	.	C	*	43716.6	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-1.148;DP=5393;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=13;MLEAF=0.65;MQ=60;MQRankSum=0;QD=9.02;ReadPosRankSum=1.9;SOR=0.66	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,579:581:99:1|1:157052554_AGTC_A:25904,1754,0:157052554	1	4	5	0
chr5	168666647	168666647	C	T	exonic	SLIT3	.	nonsynonymous SNV	SLIT3:NM_001271946:exon36:c.G4400A:p.R1467H,SLIT3:NM_003062:exon36:c.G4379A:p.R1460H	.	419	1102	1	0	0	1	0.000453515	.	.	.	699007	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.468	.	0.0002	0.000798722	0.0015	9.623e-05	0.0132	0	0	0.0003	0	0.0008	0.0013389	207	154602	rs138032051	0.0004	0.0004	0.0005	0.0004	0.0092	0.0004	0.0004	0.0085	0.0082	0.0001	0.0092	0	0	1.873e-05	0.0002	0.0001	0.0003	0.0007	0.0004	0.0004	0.0003	0.0004	0.0029	0.0003	0.0003	0.0022	0.0020	7.216e-05	0	0.0029	0	0	0	0	8.82e-05	0	0.0006	0.105	0.30235	T	0.18	0.32891	T	0.982	0.60036	D	0.608	0.51027	P	0.000016	0.62929	D	0.110304	0.998787	0.51308	D	1.845	0.48678	L	-0.99	0.75911	T	-1.66	0.39692	N	0.404	0.56662	-0.4849	0.69191	T	0.267	0.63876	T	10	0.009153724	0.00207	T	.	.	.	0.468	0.76289	.	.	0.674899423289	0.67214	0.5164967353146308	0.51572	0.968795695349	0.73288	0.440823346376	0.30689	T	0.165501	0.51138	T	-0.32357	0.06609	T	-0.228167	0.51949	T	0.0611550520686743	0.07349	T	0.89771	0.64209	D	0.0833204	0.19234	0.059809193	0.11287	0.0833204	0.19234	0.059809193	0.11286	-7.308	0.56253	T	.	.	0.089	0.15430	B	.;.;.	.;.;.	4.797167	0.77915	26.8	0.99932312071626672	0.99439	0.67224	0.33356	D	AEFDBI	0.364684	0.45314	N	0.434426975963811	0.63326	4.564141	0.452089355252586	0.64851	4.750068	0.998413404470711	0.36924	0.553676	0.25195	0	0.563428	0.19063	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.08	5.08	0.68373	3.103000	0.49990	4.695000	0.44383	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.7769:0.0:0.2231	6.594	0.21856	966	0.07191	Cystine knot, C-terminal|Cystine knot, C-terminal;Cystine knot, C-terminal|Cystine knot, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1109.43	40	chr5	168666647	.	C	T	1109.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.985;DP=407;ExcessHet=0;FS=2.873;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.347;SOR=0.812	GT:AD:DP:GQ:PL	0/1:39,47:86:99:1121,0,818	9	0	1	0
chr5	177210738	177210738	C	T	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon5:c.C2339T:p.S780L,NSD1:NM_001365684:exon6:c.C1532T:p.S511L,NSD1:NM_172349:exon6:c.C1532T:p.S511L	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	0	1488	33	1	0	35	0.011624	.	.	YES	239787	not_provided|NSD1-related_disorder|not_specified|Inborn_genetic_diseases|Sotos_syndrome	MedGen:C3661900|.|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.203	0.119532793554	0.0002	0.00159744	0.0015	0.0005	0.0003	0.0001	0	0.0002	0.0033	0.0090	0.0012678	196	154602	rs201327209	0.0007	0.0007	0.0004	0.0009	0.0078	0.0006	0.0006	0.0073	0.0072	0.0006	0.0001	3.826e-05	0.0001	1.872e-05	0.0045	0.0001	0.0013	0.0078	0.0004	0.0004	0.0002	0.0006	0.0079	0.0003	0.0003	0.0059	0.0052	0.0002	0	6.537e-05	0	0	0	0.0034	0.0001	0	0.0079	0.369	0.11586	T	0.157	0.31730	T	0.001	0.07471	B	0.001	0.04355	B	0.479984	0.04976	N	1.312980	1	0.08975	N	0.665	0.16292	N	-2.92	0.91748	D	-0.93	0.24898	N	0.123	0.11483	-0.5315	0.67484	T	0.501	0.81130	D	9	0.0071305633	0.00162	T	0.119533	0.79986	D	0.203	0.48915	.	.	0.285775778912	0.28195	0.1697416330843925	0.16894	0.0501952522484	0.05511	0.305351316929	0.11204	T	0.066807	0.33039	T	-0.46338	0.00936	T	-0.432275	0.29678	T	0.000333618925651535	0.00003	T	0.835416	0.50550	T	0.022735035	0.00958	0.0322699	0.01938	0.02184088	0.00810	0.035779733	0.02895	-3.889	0.23023	T	0.09667254712048216	0.06716	0.062	0.04080	B	.;.;.	.;.;.	1.123340	0.15092	11.58	0.7050257673748207	0.09317	0.11542	0.16702	N	AEFBI	0.038157	0.05359	N	-1.10106651792145	0.06625	0.3054917	-1.05623962233042	0.08577	0.4223897	0.0861538822561668	0.16001	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	2.02	0.25641	0.173000	0.16538	0.725000	0.21043	-0.202000	0.08738	0.002000	0.15269	0.239000	0.23838	0.733000	0.35199	0.0:0.6073:0.0:0.3927	6.754	0.22692	917	0.20147	.;.;.	.	.	.	.	.	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	0	0	1	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.1	8200.14	42	chr5	177210738	.	C	T	8200.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.38;DP=1752;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1.61;SOR=0.702	GT:AD:DP:GQ:PL	0/1:166,178:344:99:4492,0,3695	8	0	2	0
chr6	8430019	8430019	C	A	exonic	SLC35B3	.	nonsynonymous SNV	SLC35B3:NM_001370477:exon2:c.G46T:p.V16L,SLC35B3:NM_001370478:exon2:c.G46T:p.V16L,SLC35B3:NM_001370479:exon2:c.G46T:p.V16L,SLC35B3:NM_001142540:exon3:c.G142T:p.V48L,SLC35B3:NM_001142541:exon3:c.G142T:p.V48L,SLC35B3:NM_001370476:exon3:c.G142T:p.V48L,SLC35B3:NM_015948:exon3:c.G142T:p.V48L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.0117770998422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.25255	T	0.171	0.30339	T	0.008	0.14655	B	0.014	0.16862	B	0.000187	0.48115	D	0.219196	0.996811	0.45107	D	0.895	0.22405	L	1.4	0.33630	T	-0.7	0.19933	N	0.265	0.30004	-1.1037	0.03672	T	0.051	0.21883	T	9	0.17437112	0.32312	T	0.011777	0.29743	T	0.014	0.01968	0.234	0.16305	0.184867976434	0.18130	0.43189125906447356	0.43106	0.0979166354652	0.11043	0.468758165836	0.34509	T	0.017813	0.14467	T	-0.161146	0.26583	T	-0.469251	0.25597	T	0.804872393608093	0.46688	D	0.910709	0.68343	D	0.12774728	0.29885	0.079569146	0.17924	0.12774728	0.29885	0.079569146	0.17923	-2.908	0.09223	T	.	.	0.144	0.47459	B	.;.;.	.;.;.	2.723338	0.35625	19.95	0.99117876489701484	0.52906	0.91461	0.53581	D	AEFDBIJ	0.418205	0.48593	N	-0.0869479204730967	0.37963	2.216433	0.0650070722537117	0.42804	2.595461	0.934653534519832	0.27180	0.75658	0.98901	0	0.743671	0.97443	0	0.709663	0.75317	0	0.656636	0.63459	0	.	.	5.88	4.09	0.47038	1.942000	0.39870	2.748000	0.34514	0.589000	0.31548	1.000000	0.71638	0.999000	0.35428	0.979000	0.57723	0.0:0.7267:0.0:0.2733	9.190	0.36352	862	0.33134	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1523.43	34	chr6	8430019	.	C	A	1523.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.856;DP=481;ExcessHet=0;FS=1.206;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.07;ReadPosRankSum=-0.82;SOR=0.808	GT:AD:DP:GQ:PL	0/1:93,75:168:99:1535,0,2119	9	0	1	0
chr6	18122126	18122126	C	T	exonic	NHLRC1	.	nonsynonymous SNV	NHLRC1:NM_198586:exon1:c.G481A:p.A161T	Epilepsy, progressive myoclonic 2B (Lafora), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	924306	Lafora_disease|Inborn_genetic_diseases	MONDO:MONDO:0009697,MedGen:C0751783,OMIM:PS254780,Orphanet:501|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.146	0.0353788487973	.	0.000199681	4.17e-05	0	0	0.0001	0	0	0	0.0002	3.88e-05	6	154602	rs201476733	1.984e-05	1.984e-05	1.089e-05	2.888e-05	0.0005	1.392e-05	1.204e-05	0.0003	0.0002	0	0	0	0.0005	0	0	0	0	0.0001	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	6.85e-05	2.865e-05	0	0	0	0	0.0004	0	0	0	0	0	0.597	0.05686	T	0.287	0.21210	T	0.557	0.38282	P	0.041	0.23986	B	0.083889	0.20728	N	0.496380	1	0.08975	N	0.895	0.22405	L	-2.61	0.89953	D	-0.53	0.16393	N	0.289	0.32701	-0.8943	0.48549	T	0.219	0.58227	T	10	0.072166085	0.10736	T	0.035379	0.56304	D	0.146	0.38789	.	.	0.798431674279	0.79655	0.4395632538453617	0.43873	0.408364827475	0.41678	0.399507701397	0.24999	T	0.085976	0.37621	T	-0.216896	0.18419	T	-0.289654	0.45808	T	0.0964726135134697	0.11964	T	0.729627	0.34527	T	0.04665513	0.07844	0.08100551	0.18374	0.04665513	0.07844	0.08100551	0.18374	-4.274	0.27811	T	0.11807226440136598	0.10854	0.078	0.06849	B	.	.	3.189069	0.43316	21.7	0.9870693874590305	0.44996	0.10293	0.15840	N	AEFBCI	0.063238	0.12210	N	-0.483459696760407	0.22622	1.20927	-0.474163742072108	0.22869	1.244267	0.999315903056594	0.39113	0.764865	0.99124	0	0.588066	0.40923	0	0.731555	0.93304	0	0.444512	0.06955	0	.	.	5.23	3.43	0.38372	1.495000	0.35236	3.283000	0.37246	0.599000	0.40250	0.059000	0.21734	0.447000	0.24933	0.935000	0.47363	0.0:0.5422:0.149:0.3088	4.950	0.13357	739	0.53257	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	5542.43	35	chr6	18122126	.	C	T	5542.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.023;DP=756;ExcessHet=0;FS=0.526;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.74;ReadPosRankSum=-2.246;SOR=0.593	GT:AD:DP:GQ:PL	0/1:193,242:435:99:5554,0,3991	9	0	1	0
chr6	20112977	20112977	T	C	exonic	MBOAT1	.	nonsynonymous SNV	MBOAT1:NM_001080480:exon11:c.A1108G:p.T370A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.627	0.0496428575759	.	.	1.653e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs755597178	4.105e-06	4.104e-06	1.361e-06	6.876e-06	4.638e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	0	4.638e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.07	0.43721	T	0.977	0.58535	D	0.814	0.58796	P	0.000003	0.62929	D	0.101382	0.99995	0.52396	D	2.755	0.80505	M	-0.93	0.75215	T	-4.1	0.74900	D	0.732	0.73285	0.244	0.86638	D	0.552	0.83616	D	10	0.859135	0.85124	D	0.049643	0.63902	D	0.627	0.85615	0.731	0.86460	0.866087505847	0.86479	0.7963905457662015	0.79592	0.254691614069	0.28041	0.43102991581	0.29349	T	0.142884	0.47870	T	-0.0581117	0.43202	T	-0.11765	0.61995	T	0.818032157404283	0.47627	D	0.830517	0.49623	T	0.40162	0.60845	0.3138287	0.57378	0.40162	0.60845	0.3138287	0.57377	-10.33	0.75864	D	.	.	0.133	0.28693	B	.	.	4.479135	0.69862	25.4	0.99826053201138365	0.90852	0.90674	0.52048	D	AEFDBI	0.322911	0.42526	N	0.7469221341787	0.82703	7.828743	0.710531975320032	0.83177	7.954119	0.978748610433258	0.29954	0.719381	0.83141	0	0.723133	0.82719	0	0.688494	0.62686	0	0.620846	0.47308	0	.	.	5.83	5.83	0.93059	4.199000	0.58223	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	15.874	0.78929	911	0.21964	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1363.43	34	chr6	20112977	.	T	C	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.314;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.63;ReadPosRankSum=0.171;SOR=0.709	GT:AD:DP:GQ:PL	0/1:43,57:100:99:1375,0,973	9	0	1	0
chr6	21595197	21595197	-	GGC	exonic	SOX4	.	nonframeshift insertion	SOX4:NM_003107:exon1:c.663_664insGGC:p.G227_K228insG	.	415	1105	1	0	1	2	0.000452284	.	.	.	2822745	not_provided|Coffin-Siris_syndrome_10|SOX4-related_disorder	MedGen:C3661900|MONDO:MONDO:0032791,MedGen:C4760583,OMIM:618506|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs1038763406	0.0018	0.0013	0.0018	0.0018	0.0036	0.0017	0.0017	0.0025	0.0021	0.0004	0.0036	8.453e-05	0.0002	9.965e-05	0.0011	0.0019	0.0014	0.0006	0.0012	0.0012	0.0014	0.0010	0.0020	0.0010	0.0010	0.0015	0.0014	0.0005	0	0.0020	0	0	0	0	0.0018	0.0029	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	109.04	18	chr6	21595197	.	A	AGGC	109.04	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.674;DP=139;ExcessHet=0;FS=0;InbreedingCoeff=-0.0824;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=27.26;ReadPosRankSum=0.319;SOR=0.446	GT:AD:DP:GQ:PL	0/1:1,3:4:33:120,0,33	8	0	1	1
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	1640.75	71	chr6	24145554	.	C	T	1640.75	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.77;DP=720;ExcessHet=10.3881;FS=223.591;InbreedingCoeff=-0.6667;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.29;ReadPosRankSum=-0.196;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,29:66:99:.:.:477,0,347:.	5	0	5	0
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W,HLA-A:NM_002116:exon2:c.C112T:p.R38W	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	.	.	.	0.0603	0.0995	0.1022	0.0272	0.0692	0.0516	0.0599	0.0590	0.0488804	7557	154602	rs45569434	6.38e-05	0.0006	3.982e-05	8.774e-05	0.0003	5.181e-05	4.787e-05	0.0001	0.0001	0.0001	0.0003	0.0002	0.0001	0.0001	0	5.282e-05	5.858e-05	1.255e-05	1.763e-05	0.0004	1.698e-05	1.832e-05	3.158e-05	2.93e-06	1.1e-06	.	.	3.158e-05	0	0	0	0	0	0	1.921e-05	0	0	0.0	0.91255	D	0.027	0.55341	D	1.0	0.90584	D	0.98	0.74843	D	0.690295	0.10182	U	0.758419	0.991328	0.24050	N	.	.	.	5.54	0.00885	T	-5.95	0.90140	D	0.086	0.09631	-0.9942	0.31512	T	0.009	0.03011	T	10	0.009814292	0.00220	T	.	.	.	0.141	0.37795	.	.	.	.	0.2815732018754056	0.28070	0.458621484478	0.45471	0.351919740438	0.18205	T	0.028248	0.20504	T	0.0221942	0.54678	T	-0.205896	0.54087	T	0.132723840102629	0.15631	T	0.657134	0.26688	T	0.38850322	0.59925	0.5650758	0.74827	0.38850322	0.59926	0.5650758	0.74828	-10.028	0.74079	D	.	.	0.146	0.39271	B	.;.;.;.;.	.;.;.;.;.	3.559205	0.50069	22.9	0.99688396903793897	0.79775	0.02454	0.06901	N	AEFDGBHCI	0.351151	0.44436	N	0.195067772507188	0.50963	3.281393	-0.0380896100270192	0.38011	2.23339	0.999999980882174	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	3.72	1.87	0.24559	0.353000	0.19868	.	.	0.397000	0.20528	0.010000	0.18352	0.000000	0.08366	0.029000	0.12982	0.0:0.6744:0.2073:0.1183	5.323	0.15197	862	0.33134	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-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	0.124220	0.116162	0.138587	0.075000	0.250000	0.077586	0.158537	0.140152	0.1	533.14	121	chr6	29942795	.	C	T	533.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.736;DP=1047;ExcessHet=0.2348;FS=1.473;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.39;MQRankSum=-4.226;QD=2.48;ReadPosRankSum=3.69;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,16:102:99:0|1:29942652_C_G:414,0,3322:29942652	8	0	2	0
chr6	30586216	30586216	C	T	exonic	ABCF1	.	nonsynonymous SNV	ABCF1:NM_001090:exon17:c.C1682T:p.P561L,ABCF1:NM_001025091:exon18:c.C1796T:p.P599L	.	428	1093	1	0	0	1	0.000457247	.	.	.	710390	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.050	.	0.0085	0.00998403	0.0025	0.0276	0.0009	0	0	1.509e-05	0	0.0001	0.0024191	374	154602	rs115337170	0.0008	0.0008	0.0009	0.0006	0.0281	0.0007	0.0007	0.0266	0.0260	0.0281	0.0011	0	0	0	0.0007	2.338e-05	0.0013	8.115e-05	0.0073	0.0073	0.0074	0.0071	0.0255	0.0069	0.0068	0.0242	0.0237	0.0255	0	0.0024	0	0	0	0	5.881e-05	0.0038	0	0.041	0.41915	D	0.224	0.28575	T	0.06	0.23119	B	0.065	0.27321	B	0.029676	0.25420	N	0.442983	0.999915	0.81001	D	1.32	0.33002	L	0.54	0.54911	T	-2.32	0.51478	N	0.349	0.42050	-1.0675	0.09971	T	0.066	0.27295	T	10	0.0077928603	0.00177	T	.	.	.	0.050	0.13987	.	.	0.781959415027	0.77994	0.24412009190347728	0.24326	0.786526509443	0.65546	0.576090455055	0.49535	T	0.086251	0.37683	T	-0.476963	0.00771	T	-0.437628	0.29075	T	0.0229580308832179	0.01019	T	.	.	.	0.07815728	0.17780	0.09583079	0.22744	0.07815728	0.17780	0.09583079	0.22744	-8.368	0.63552	D	.	.	0.103	0.18580	B	.;.	.;.	4.032610	0.59644	24.1	0.997374645234261	0.83264	0.92668	0.56256	D	AEFBI	0.292895	0.40365	N	-0.0903685184820714	0.37814	2.205466	0.0616880139790793	0.42641	2.582676	0.974446816048452	0.29543	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.8	4.8	0.61157	3.016000	0.49294	.	.	0.599000	0.40250	0.652000	0.28189	1.000000	0.68203	0.996000	0.76049	0.0:0.909:0.0:0.091	10.396	0.43382	804	0.43891	.;.	.	.	.	.	.	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	0	0	1	0	0.001089	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.1	1752.14	35	chr6	30586216	.	C	T	1752.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.92;DP=455;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=0.455;SOR=0.693	GT:AD:DP:GQ:PL	0/1:27,42:69:99:955,0,605	8	0	2	0
chr6	30677273	30677273	C	T	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon3:c.G1838A:p.R613Q,PPP1R18:NM_001134870:exon4:c.G1838A:p.R613Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	710392	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0080	0.00958466	0.0021	0.0270	0.0009	0	0	3.163e-05	0	0.0001	0.0020763	321	154602	rs74802004	0.0008	0.0008	0.0009	0.0006	0.0277	0.0007	0.0007	0.0262	0.0256	0.0277	0.0012	0	0	0	0.0007	5.324e-05	0.0013	0.0001	0.0072	0.0072	0.0073	0.0071	0.0252	0.0069	0.0067	0.0240	0.0235	0.0252	0	0.0025	0	0	0	0	5.884e-05	0.0038	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000840	0.41547	D	0.095007	0.61772	0.32677	D	0.975	0.24501	L	1.08	0.39401	T	-0.99	0.26200	N	0.395	0.59308	-0.9250	0.44858	T	0.111	0.39864	T	10	0.0069939196	0.00159	T	.	.	.	0.101	0.28911	.	.	0.574877809555	0.57156	0.2909268052166772	0.29005	1.43599143894	0.85891	0.688641548157	0.65511	T	0.008228	0.07566	T	-0.467503	0.00881	T	-0.42404	0.30613	T	0.0854999207262403	0.10675	T	0.873313	0.58144	D	0.120588824	0.28372	0.11121444	0.26824	0.120588824	0.28372	0.11121444	0.26823	-4.233	0.27226	T	.	.	0.531	0.67034	A	.;.;.;.	.;.;.;.	5.364411	0.89950	31	0.99946952941574518	0.99913	0.97480	0.75020	D	AEFBI	0.627867	0.61017	D	0.523348873466614	0.68475	5.222147	0.530455199908956	0.70049	5.448407	0.999992412203373	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	3.714000	0.54618	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	13.047	0.58340	862	0.33134	.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.001089	0.000000	0.001359	0.000000	0.000000	0.008772	0.000000	0.000000	0.1	1353.14	34	chr6	30677273	.	C	T	1353.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.43;DP=392;ExcessHet=0.2348;FS=1.457;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.052;SOR=0.846	GT:AD:DP:GQ:PL	0/1:30,36:66:99:864,0,662	8	0	2	0
chr6	31029811	31029811	T	0	exonic	MUC22	.	.	.	.	437	906	156	17	6	196	0.0949051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	17752.2	624	chr6	31029811	.	T	*	17752.2	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.743;DP=6298;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.056;MQ=59.33;MQRankSum=3.96;QD=9.61;ReadPosRankSum=-2.884;SOR=0.707	GT:AD:DP:GQ:PL	0/1:393,338:731:99:10247,0,13255	8	0	1	1
chr6	31029812	31029812	T	0	exonic	MUC22	.	.	.	.	445	715	203	2	157	364	0.126451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	20470.0	624	chr6	31029812	.	T	*	20470.0	.	AC=1;AF=0.063;AN=16;BaseQRankSum=2;DP=6472;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.063;MQ=59.47;MQRankSum=3.98;QD=7.35;ReadPosRankSum=1.98;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:393,338:731:99:.:.:10247,0,13255:.	7	0	1	2
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	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	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.25	11464.1	165	chr6	31270002	.	C	T	11464.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.258;DP=1405;ExcessHet=0.2065;FS=0.534;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=59.39;MQRankSum=0.59;QD=23.4;ReadPosRankSum=1.55;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:83,52:135:99:.:.:1902,0,3258:.	6	1	3	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	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	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.25	4050.13	68	chr6	31270250	.	C	A	4050.13	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.496;DP=744;ExcessHet=0.2065;FS=1.027;InbreedingCoeff=0.2;MLEAC=5;MLEAF=0.25;MQ=49.57;MQRankSum=-1.008;QD=17.69;ReadPosRankSum=-1.436;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,28:75:99:0|1:31270188_G_C:845,0,1805:31270188	6	1	3	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	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	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.35	2550.97	236	chr6	31355425	.	T	C	2550.97	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.577;DP=1787;ExcessHet=7.0302;FS=23.246;InbreedingCoeff=-0.5388;MLEAC=7;MLEAF=0.35;MQ=57.89;MQRankSum=-12.93;QD=1.95;ReadPosRankSum=-0.449;SOR=1.849	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:151,18:169:99:.:.:119,0,4238:.	3	0	7	0
chr6	31356716	31356717	CA	0	exonic	HLA-B	.	.	.	.	0	89	17	5	115	142	0.131707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1867.08	18	chr6	31356716	.	CA	*	1867.08	.	AC=11;AF=0.55;AN=20;DP=445;ExcessHet=1.4371;FS=12.356;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.65;QD=4.56;SOR=1.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,17:38:99:0|1:31356711_C_CGGAG:630,0,831:31356711	2	3	5	0
chr6	31356719	31356720	GT	0	exonic	HLA-B	.	.	.	.	10	742	10	2	758	772	0.00934579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	1822.08	18	chr6	31356719	.	GT	*	1822.08	.	AC=11;AF=0.55;AN=20;DP=448;ExcessHet=1.4371;FS=12.366;InbreedingCoeff=-0.0989;MLEAC=11;MLEAF=0.55;MQ=52.46;QD=4.42;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,17:39:99:0|1:31356711_C_CGGAG:627,0,852:31356711	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	4775.72	32	chr6	31356748	.	CCT	*	4775.72	.	AC=12;AF=0.6;AN=20;BaseQRankSum=4.05;DP=659;ExcessHet=0;FS=8.576;InbreedingCoeff=-0.0526;MLEAC=12;MLEAF=0.6;MQ=54.11;MQRankSum=-8.251;QD=7.29;ReadPosRankSum=-1.343;SOR=1.842	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,55:55:99:1|1:31356711_C_CGGAG:2475,166,0:31356711	3	5	2	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	7688.91	119	chr6	31356827	.	T	*	7688.91	.	AC=14;AF=0.7;AN=20;DP=1309;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=14;MLEAF=0.7;MQ=53.95;QD=6.02;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,128:128:99:1|1:31356711_C_CGGAG:5734,385,0:31356711	1	5	4	0
chr6	31410618	31410618	T	G	exonic	MICA	.	nonsynonymous SNV	MICA:NM_000247:exon2:c.T146G:p.V49G,MICA:NM_001177519:exon2:c.T146G:p.V49G	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	.	0.0057	0.00698882	0.0022	0.0205	0.0004	0.0007	0.0012	0.0006	0.0011	0.0002	0.0020763	321	154602	rs17200158	0.0008	0.0008	0.0009	0.0007	0.0191	0.0008	0.0008	0.0178	0.0174	0.0191	0.0008	7.653e-05	0.0002	0.0013	0.0016	0.0003	0.0012	0.0001	0.0056	0.0056	0.0055	0.0056	0.0182	0.0052	0.0051	0.0172	0.0167	0.0182	0	0.0020	0	0.0002	0.0007	0.0068	0.0006	0.0057	0	1.0	0.35918	T	1.0	0.01155	T	0.012	0.16265	B	0.009	0.14300	B	0.665040	0.10393	N	0.771090	1	0.19363	N	.	.	.	6.75	0.00493	T	5.71	0.00019	N	0.148	0.15046	-0.9847	0.33903	T	0.000	0.00011	T	10	0.002904147	0.00047	T	.	.	.	0.078	0.22779	.	.	0.0297737177859	0.01360	0.5168620670879079	0.51609	0.140911219291	0.15895	0.341239184141	0.16623	T	0.018819	0.15105	T	-0.615122	0.00118	T	-0.64142	0.09565	T	0.00344233807832698	0.00036	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01668	B	.;.	.;.	-1.240388	0.00492	0.011	0.69367632553575986	0.08949	0.00043	0.00351	N	AEFDBI	0.024243	0.01470	N	-2.00030620287974	0.00211	0.009056648	-1.90259563111045	0.00484	0.02143707	0.96877145339347	0.29078	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.89	-2.26	0.06478	-0.378000	0.07503	.	.	-3.643000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2645:0.0:0.3426:0.3929	2.599	0.04565	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-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	0.007667	0.005102	0.016304	0.000000	0.000000	0.008621	0.003086	0.000000	0.1	6585.14	176	chr6	31410618	.	T	G	6585.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.657;DP=1427;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.19;MQRankSum=-5.864;QD=14.97;ReadPosRankSum=1.49;SOR=0.628	GT:AD:DP:GQ:PL	0/1:120,115:235:99:4269,0,4563	8	0	2	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2756.94	78	chr6	31412383	.	TG	*	2756.94	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.105;DP=609;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=0;SOR=0.7	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:21,17:38:99:.:.:611,0,830:.	8	1	1	0
chr6	31412384	31412384	G	0	exonic;splicing	MICA;MICA	NM_000247:exon6:c.949-1G>0	.	.	.	0	10	88	27	101	243	0.876543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	13877.4	79	chr6	31412384	.	G	*	13877.4	.	AC=6;AF=0.3;AN=20;DP=615;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=6;MLEAF=0.3;MQ=60;QD=27.7;SOR=1.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,17:38:99:.:.:1706,890,830:.	5	1	4	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	4335.04	114	chr6	31625601	.	T	C	4335.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.295;DP=1214;ExcessHet=22.563;FS=219.133;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.8;ReadPosRankSum=1.54;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,23:87:99:0|1:31625601_T_C:495,0,2110:31625601	0	0	10	0
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	5289.04	114	chr6	31625602	.	G	A	5289.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-2.245;DP=1213;ExcessHet=22.563;FS=261.515;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.64;ReadPosRankSum=1.66;SOR=10.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,23:87:99:0|1:31625601_T_C:495,0,2110:31625601	0	0	10	0
chr6	31637239	31637239	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon30:c.T6248C:p.F2083S,PRRC2A:NM_080686:exon30:c.T6248C:p.F2083S	.	411	1024	80	7	0	94	0.0438842	.	.	.	3221664	PRRC2A-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.107	.	0.0060	0.00838658	0.0105	0.0066	0.0089	0.0014	0.0014	0.0098	0.0149	0.0250	0.0100128	1548	154602	rs35595439	0.0099	0.0099	0.0093	0.0105	0.0980	0.0098	0.0097	0.0913	0.0886	0.0064	0.0100	0.0241	0.0009	0.0009	0.0980	0.0087	0.0136	0.0245	0.0085	0.0085	0.0084	0.0086	0.0176	0.0081	0.0079	0.0146	0.0135	0.0064	0	0.0119	0.0236	0.0023	0.0007	0.0782	0.0087	0.0203	0.0176	0.009	0.57480	D	0.037	0.51737	D	0.99	0.63424	D	0.676	0.53321	P	0.037848	0.24353	N	0.374635	0.994293	0.42229	D	0.805	0.20218	L	4.59	0.01885	T	-0.02	0.07299	N	0.684	0.69037	-0.6465	0.62866	T	0.006	0.01907	T	10	0.0058432817	0.00130	T	.	.	.	0.107	0.30369	.	.	.	.	0.36497003574382164	0.36411	0.278578728581	0.30341	0.594195008278	0.52086	T	0.006049	0.05488	T	-0.447984	0.01161	T	-0.39735	0.33694	T	0.0174964733769842	0.00485	T	0.727827	0.34232	T	0.15795542	0.35562	0.16183853	0.37623	0.15795542	0.35562	0.16183853	0.37622	-1.277	0.01365	T	.	.	0.381	0.58464	A	.;.	.;.	3.781721	0.54376	23.5	0.98768474912641135	0.45924	0.93029	0.57147	D	AEFDBHCI	0.674946	0.64050	D	0.358168924707542	0.59173	4.094471	0.416011924713983	0.62563	4.473676	0.99999993239348	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.63	5.63	0.86108	2.432000	0.44442	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.531000	0.29730	0.0:0.0:0.0:1.0	13.654	0.61799	884	0.28482	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs115912333	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	0	0	1	0	0.059368	0.116162	0.059783	0.127660	0.200000	0.077586	0.012195	0.030303	0.1	4824.14	38	chr6	31637239	.	T	C	4824.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.7;DP=861;ExcessHet=0.2348;FS=1.733;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=0.732;SOR=0.821	GT:AD:DP:GQ:PL	0/1:120,111:231:99:2680,0,2668	8	0	2	0
chr6	31710176	31710176	G	A	exonic	LY6G6F;LY6G6F-LY6G6D	.	nonsynonymous SNV	LY6G6F:NM_001003693:exon4:c.G797A:p.G266D,LY6G6F-LY6G6D:NM_001353334:exon4:c.G797A:p.G266D	.	423	1017	75	7	0	89	0.0419218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0060	0.00838658	0.0106	0.0071	0.0094	0.0014	0.0014	0.0098	0.0139	0.0253	0.0101422	1568	154602	rs61740977	0.0100	0.0100	0.0094	0.0106	0.0983	0.0099	0.0098	0.0916	0.0889	0.0066	0.0103	0.0241	0.0009	0.0009	0.0983	0.0087	0.0136	0.0245	0.0086	0.0086	0.0085	0.0087	0.0176	0.0082	0.0080	0.0146	0.0135	0.0066	0	0.0119	0.0236	0.0023	0.0007	0.0748	0.0088	0.0213	0.0176	0.792	0.18061	T	0.67	0.06305	T	0.0	0.02946	B	0.001	0.04355	B	0.940953	0.08354	N	0.971401	1	0.08975	N	1.385	0.34509	L	2.36	0.16089	T	-0.77	0.26200	N	0.134	0.13055	-0.9108	0.46756	T	0.005	0.01725	T	10	0.0036507547	0.00067	T	.	.	.	0.024	0.04979	.	.	.	.	0.17638048354673985	0.17557	0.0973658497453	0.21457	0.23227712512	0.02141	T	0.002959	0.02360	T	-0.691932	0.00041	T	-0.747765	0.03574	T	0.00386979524127015	0.00041	T	0.379462	0.09138	T	0.04546819	0.07448	0.08063304	0.18256	0.04546819	0.07448	0.08063304	0.18256	-4.892	0.35645	T	.	.	0.107	0.19958	B	.;.	.;.	0.522969	0.08917	5.698	0.70296732587708188	0.09250	0.01871	0.05765	N	AEFGBI	0.059164	0.11153	N	-1.55622397157654	0.01499	0.06542969	-1.50119969325627	0.02335	0.1072508	0.999911762167869	0.45857	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.25	-0.08	0.13042	0.206000	0.17174	.	.	-0.179000	0.10443	0.009000	0.18154	0.010000	0.20010	0.146000	0.20164	0.353:0.0:0.5128:0.1342	5.858	0.17980	889	0.27310	.;.	STK19|STK19B|LY6G5B|STK19B|TNXA|STK19B|STK19B|STK19|STK19B|LY6G5B|LY6G5C|STK19B|STK19B|LY6G5B|STK19B|POU5F1|STK19B|MPIG6B|STK19|STK19B|POU5F1|STK19B|LY6G5B|STK19B|LY6G5B|LY6G5B|STK19|LST1|PRRC2A|LY6G5B|STK19|STK19B|STK19|STK19B|STK19B|STK19B|NELFE|LY6G5B|LY6G5C|STK19|STK19B|C4B|CYP21A2|AIF1|LY6G5C|STK19B	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Aorta|Artery_Aorta|Artery_Coronary|Artery_Tibial|Artery_Tibial|Brain_Nucleus_accumbens_basal_ganglia|Brain_Nucleus_accumbens_basal_ganglia|Breast_Mammary_Tissue|Colon_Sigmoid|Colon_Transverse|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Left_Ventricle|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Nerve_Tibial|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Testis|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Thyroid|Whole_Blood|Whole_Blood|Whole_Blood	STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|STK19|STK19B|MSH5	Adipose_Subcutaneous|Adipose_Subcutaneous|Artery_Aorta|Artery_Aorta|Artery_Tibial|Artery_Tibial|Breast_Mammary_Tissue|Esophagus_Gastroesophageal_Junction|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Mucosa|Esophagus_Muscularis|Esophagus_Muscularis|Heart_Left_Ventricle|Heart_Left_Ventricle|Nerve_Tibial|Nerve_Tibial|Prostate|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Testis	rs116179487	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	0.059368	0.126263	0.057065	0.127660	0.200000	0.078947	0.012195	0.030303	0.1	1493.14	33	chr6	31710176	.	G	A	1493.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.804;DP=420;ExcessHet=0.2348;FS=4.021;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.079;SOR=1.043	GT:AD:DP:GQ:PL	0/1:38,34:72:99:813,0,1215	8	0	2	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V,TNXB:NM_019105:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00404409277271	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1206170488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.488	0.08042	T	0.223	0.25670	T	.	.	.	.	.	.	0.011090	0.29665	N	0.157455	1	0.08975	N	.	.	.	0.6	0.53731	T	-0.55	0.16799	N	0.161	0.16864	-0.9398	0.42648	T	0.022	0.09375	T	10	0.10542533	0.19487	T	0.004044	0.09618	T	0.083	0.24192	0.628	0.76366	0.082315109003	0.07666	.	.	.	.	0.376017332077	0.21691	T	0.049554	0.28342	T	-0.363473	0.03937	T	-0.590752	0.13601	T	0.178008481860161	0.19109	T	0.579042	0.20891	T	0.03490001	0.04007	0.03757916	0.03441	0.03490001	0.04007	0.03757916	0.03440	-2.443	0.05403	T	0.1244784940056053	0.12220	0.096	0.33527	B	.;.;.;.	.;.;.;.	0.203901	0.05883	2.323	0.40594767169986945	0.02875	0.01905	0.05835	N	AEFBI	0.067491	0.13270	N	-0.954541453763761	0.09591	0.4545985	-0.991296341291336	0.09980	0.4997959	0.999587630504933	0.40607	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	4.23	0.376	0.15424	0.055000	0.14112	.	.	-0.122000	0.13826	0.025000	0.20085	0.000000	0.08366	0.135000	0.19760	0.0:0.3643:0.0:0.6357	7.727	0.27930	911	0.21964	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	278.14	35	chr6	32084509	.	T	C	278.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.794;DP=508;ExcessHet=0.2348;FS=119.95;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.59;SOR=7.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,21:123:99:0|1:32084509_T_C:216,0,3743:32084509	8	0	2	0
chr6	32085972	32085972	G	A	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon7:c.C2926T:p.R976C,TNXB:NM_019105:exon7:c.C2926T:p.R976C	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0147469541557	.	.	8.778e-06	0	0	0	0	1.599e-05	0	0	6.5e-06	1	154602	rs776675309	6.182e-06	6.84e-06	8.199e-06	4.144e-06	8.969e-05	2.91e-06	2.11e-06	2.377e-05	1.258e-05	8.969e-05	0	0	5.038e-05	0	0	2.701e-06	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.009	0.66756	D	.	.	.	.	.	.	0.965868	0.07747	N	1.018070	0.55165	0.31329	N	.	.	.	3.59	0.04544	T	-3.99	0.73893	D	0.442	0.48042	-0.9062	0.47308	T	0.010	0.03719	T	10	0.2562372	0.43025	T	0.014747	0.35069	T	0.128	0.35103	0.568	0.69034	0.189391138174	0.18552	.	.	.	.	0.324014782906	0.14029	T	0.340968	0.70992	T	-0.286662	0.09974	T	-0.464274	0.26135	T	0.959307491779327	0.65498	D	0.867413	0.58915	D	0.14266106	0.32821	0.124322385	0.29967	0.14266106	0.32820	0.124322385	0.29967	-12.631	0.87787	D	0.12868766263925635	0.13357	0.162	0.42877	B	.;.;.;.	.;.;.;.	5.150489	0.86261	28.9	0.9991154538476994	0.98095	0.29391	0.23809	N	AEFDBHCI	0.246283	0.36707	N	0.0356171547820315	0.43481	2.64022	-0.0370241111459923	0.38056	2.236801	0.999999990598098	0.74766	0.653496	0.48692	0	0.480063	0.06835	0	0.596874	0.31795	0	0.542086	0.14980	0	.	.	3.89	0.721	0.17373	1.592000	0.36286	.	.	0.618000	0.50648	0.217000	0.24502	0.997000	0.33255	0.935000	0.47363	0.0:0.178:0.457:0.365	6.353	0.20594	911	0.21964	Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1735.43	33	chr6	32085972	.	G	A	1735.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.59;DP=443;ExcessHet=0;FS=2.405;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.83;ReadPosRankSum=-0.484;SOR=0.985	GT:AD:DP:GQ:PL	0/1:51,66:117:99:1747,0,1061	9	0	1	0
chr6	32521967	32521967	G	0	exonic	HLA-DRB5	.	.	.	.	374	1006	44	2	96	144	0.023301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	673.9	287	chr6	32521967	.	G	*	673.9	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.54;DP=2106;ExcessHet=0.0405;FS=15.075;InbreedingCoeff=0.375;MLEAC=3;MLEAF=0.15;MQ=36.61;MQRankSum=-2.018;QD=1.8;ReadPosRankSum=-3.226;SOR=1.124	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:171,40:261:99:.:.:1675,0,6982:.	8	1	1	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	3419.5	287	chr6	32521970	.	G	*	3419.5	.	AC=4;AF=0.2;AN=20;BaseQRankSum=4.23;DP=2130;ExcessHet=7.0302;FS=3.886;InbreedingCoeff=-0.5385;MLEAC=4;MLEAF=0.2;MQ=55.93;MQRankSum=-7.81;QD=1.83;ReadPosRankSum=-7.2;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,50:259:99:0|1:32521968_CGG_C:1108,0,8310:32521968	6	0	4	0
chr6	32521972	32521972	G	0	exonic	HLA-DRB5	.	.	.	.	32	45	61	74	14	223	0.698997	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	31062.1	286	chr6	32521972	.	G	*	31062.1	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.479;DP=2055;ExcessHet=0.2065;FS=8.28;InbreedingCoeff=0.2;MLEAC=3;MLEAF=0.15;MQ=52.88;MQRankSum=-7.035;QD=19.62;ReadPosRankSum=0.444;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,38:248:99:.:.:10377,8559,8464:.	8	1	1	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7726.93	271	chr6	32521978	.	GT	*	7726.93	.	AC=7;AF=0.35;AN=20;BaseQRankSum=5.95;DP=2005;ExcessHet=7.0302;FS=9.754;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=54.56;MQRankSum=-6.638;QD=4.12;ReadPosRankSum=-4.747;SOR=0.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,45:244:99:0|1:32521971_CGCG_C:1612,0,6650:32521971	5	2	3	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	15377.1	115	chr6	32522156	.	T	*	15377.1	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.669;DP=1176;ExcessHet=0;FS=2.933;MLEAC=1;MLEAF=0.063;MQ=50.23;MQRankSum=-13.56;QD=25.46;ReadPosRankSum=1.14;SOR=0.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,16:45:99:.:.:1515,843,795:.	7	0	1	2
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3048.87	115	chr6	32522157	.	C	*	3048.87	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.393;DP=1171;ExcessHet=0.0305;FS=0.797;MLEAC=2;MLEAF=0.125;MQ=51.64;MQRankSum=-3.602;QD=7.78;ReadPosRankSum=1.17;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,16:45:99:0|1:32522157_C_*:1890,1218,1170:32522157	6	0	2	2
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	3006.87	115	chr6	32522159	.	T	*	3006.87	.	AC=2;AF=0.125;AN=16;BaseQRankSum=0.892;DP=1172;ExcessHet=0.0305;FS=0.382;MLEAC=2;MLEAF=0.125;MQ=51.61;MQRankSum=-3.602;QD=7.65;ReadPosRankSum=1.22;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,16:45:99:0|1:32522157_C_*:1890,1218,1170:32522157	6	0	2	2
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28429.7	110	chr6	32530184	.	T	*	28429.7	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.814;DP=1127;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=56.79;MQRankSum=-1.487;QD=26.57;ReadPosRankSum=-1.486;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:32530183_CTT_C:1891,129,0:32530183	4	4	2	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	33773.0	110	chr6	32530185	.	T	*	33773.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.232;DP=1115;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=8;MLEAF=0.4;MQ=56.87;MQRankSum=-1.487;QD=31.5;ReadPosRankSum=-1.623;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:32530183_CTT_C:1891,129,0:32530183	5	3	2	0
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	5657.87	185	chr6	32584171	.	G	*	5657.87	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-0.372;DP=1605;ExcessHet=0.3701;FS=1.544;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=50.25;MQRankSum=4.49;QD=5.63;ReadPosRankSum=5.41;SOR=0.602	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,165:165:99:.:.:7364,497,0:.	5	1	4	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	2923.01	196	chr6	32584178	.	G	*	2923.01	.	AC=9;AF=0.45;AN=20;BaseQRankSum=1.57;DP=1798;ExcessHet=0.3131;FS=0;InbreedingCoeff=0.2;MLEAC=9;MLEAF=0.45;MQ=55.21;MQRankSum=-7.546;QD=2.67;ReadPosRankSum=-1.041;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,166:166:99:.:.:7470,500,0:.	4	3	3	0
chr6	32584280	32584280	C	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon2:c.G199C:p.V67L	.	1	1389	105	1	26	133	0.0370884	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	.	.	.	0.0204	0.0214	0.0272	0.0104	0.0245	0.0234	0.0154	0.0068	0.0077993	203	26028	rs17878614	0.0002	0.0028	0.0002	0.0003	0.0003	0.0002	0.0002	0.0003	0.0002	0.0002	4.679e-05	0	5.842e-05	0.0003	0	0.0003	0.0002	1.237e-05	0.0003	0.0034	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0004	0	0.0005	0.0004	0	0.0004	0	0	0.226	0.18562	T	0.298	0.20486	T	0.0	0.02946	B	0.0	0.01387	B	0.839475	0.06991	N	1.086700	1	0.08975	N	.	.	.	7.94	0.00325	T	-1.68	0.40082	N	0.034	0.00942	-0.9628	0.38645	T	0.000	0.00039	T	10	0.0073911548	0.00168	T	.	.	.	0.344	0.66582	0.357	0.35897	.	.	0.2725535461198692	0.27168	0.70435521742	0.61311	.	.	.	0.017737	0.14423	T	-0.487391	0.00672	T	-0.472202	0.25279	T	0.01040418298686	0.00143	T	0.0464954	0.00331	T	0.43241236	0.62909	0.15221174	0.35821	0.43241236	0.62910	0.15221174	0.35820	-5.471	0.41596	T	.	.	0.165	0.36375	B	.	.	-0.978415	0.00802	0.026	0.41590716082416673	0.03011	0.01461	0.04883	N	AEFDGBCIJ	0.181378	0.30869	N	-2.69307713427383	0.00005	0.0002449113	-2.79087809953605	0.00004	0.0002126685	0.999999999857912	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.731467	0.93227	0	0.616125	0.45549	0	.	.	3.52	-7.04	0.01423	-2.303000	0.01216	.	.	-4.118000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1964:0.2042:0.3874:0.212	2.062	0.03376	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.083246	0.121212	0.117166	0.037037	0.100000	0.087719	0.060976	0.041985	0.15	10222.5	423	chr6	32584280	.	C	G	10222.5	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.414;DP=3898;ExcessHet=0.7463;FS=0.606;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=56.24;MQRankSum=0.958;QD=7.05;ReadPosRankSum=0.636;SOR=0.721	GT:AD:DP:GQ:PL	0/1:372,115:487:99:3709,0,15193	7	0	3	0
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	26425.4	342	chr6	32584370	.	G	*	26425.4	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.65;DP=2365;ExcessHet=0.2065;FS=9.525;InbreedingCoeff=0.2;MLEAC=7;MLEAF=0.35;MQ=54.75;MQRankSum=-13.78;QD=11.54;ReadPosRankSum=-2.424;SOR=1.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,140:223:99:0|1:32584353_C_A:9454,3491,3064:32584353	3	0	7	0
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3665.7	286	chr6	32641444	.	G	*	3665.7	.	AC=8;AF=0.4;AN=20;DP=1693;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.37;QD=3.34;SOR=1.06	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:92:99:1|1:32641430_C_T:4140,277,0:32641430	4	2	4	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3623.7	286	chr6	32641445	.	A	*	3623.7	.	AC=8;AF=0.4;AN=20;DP=1691;ExcessHet=0.0657;FS=16.269;InbreedingCoeff=0.3939;MLEAC=8;MLEAF=0.4;MQ=54.52;QD=3.31;SOR=1.05	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,92:92:99:1|1:32641430_C_T:4140,277,0:32641430	4	2	4	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641462	.	G	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1723;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.07;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,86:86:99:1|1:32641430_C_T:3870,259,0:32641430	5	2	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	3985.28	312	chr6	32641464	.	T	*	3985.28	.	AC=7;AF=0.35;AN=20;DP=1725;ExcessHet=0.0059;FS=7.005;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=56.12;QD=4.28;SOR=0.858	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,86:86:99:1|1:32641430_C_T:3870,259,0:32641430	5	2	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7913.28	297	chr6	32641501	.	G	*	7913.28	.	AC=7;AF=0.35;AN=20;DP=1762;ExcessHet=0.0059;FS=1.741;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.11;QD=8.07;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,71:71:99:1|1:32641476_G_A:3195,214,0:32641476	5	2	3	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	7853.28	315	chr6	32641522	.	A	*	7853.28	.	AC=7;AF=0.35;AN=20;DP=1846;ExcessHet=0.0059;FS=0.525;InbreedingCoeff=0.6;MLEAC=7;MLEAF=0.35;MQ=58.47;QD=7.54;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,79:79:99:1|1:32641476_G_A:3513,238,0:32641476	5	2	3	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L,HLA-DQB1:NM_002123:exon2:c.G260T:p.R87L	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	.	.	.	0.0178	0.0094	0.0074	0.0044	0.0110	0.0123	0.0177	0.0613	0.0308211	4765	154602	rs1130380	0.0002	0.0028	0.0002	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	6.946e-05	7.264e-05	8.514e-05	0	0.0002	0.0004	0.0001	0.0001	0.0006	6.32e-05	0.0064	1.542e-05	0.0001	6.948e-05	3.113e-05	2.259e-05	2.321e-05	1.392e-05	2.998e-05	0	0	0.0010	0	0	0	6.948e-05	0	0	0.065	0.44029	T	0.021	0.58613	D	0.001	0.09854	B	0.004	0.10090	B	0.941407	0.08351	U	0.961307	0.979372	0.39555	D	.	.	.	7.87	0.00331	T	-5.88	0.88699	D	0.129	0.12341	-1.0646	0.10642	T	0.000	0.00039	T	10	0.003316313	0.00057	T	.	.	.	0.088	0.25558	.	.	.	.	0.3182965296469853	0.31742	0.691323969143	0.60588	0.299167692661	0.10277	T	0.017577	0.14314	T	-0.655468	0.00067	T	-0.649226	0.09008	T	0.02403772754452	0.01149	T	0.162684	0.01473	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23219	B	.;.;.;.	.;.;.;.	1.177431	0.15679	12.02	0.80016420578156267	0.13006	0.03612	0.08845	N	ALL	0.215815	0.34113	N	-2.29836096021619	0.00046	0.001970145	-2.22797978748312	0.00097	0.004250061	0.999999969366938	0.74766	0.652421	0.48094	0	0.52208	0.09955	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.193	0.14419	0.297000	0.18856	.	.	-4.622000	0.00024	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.4718:0.2098:0.3184	5.435	0.15776	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	36210.8	168	chr6	32664917	.	C	A	36210.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=5.83;DP=2277;ExcessHet=0.0059;FS=2.897;InbreedingCoeff=0.6;MLEAC=4;MLEAF=0.2;MQ=59.06;MQRankSum=-1.713;QD=31.22;ReadPosRankSum=1.13;SOR=0.554	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,20:138:99:.:.:5773,4935,4881:.	6	0	4	0
chr6	32664926	32664926	G	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.C251T:p.P84L,HLA-DQB1:NM_002123:exon2:c.C251T:p.P84L	.	20	1284	160	58	0	276	0.0970464	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	.	.	.	0.0182	0.0107	0.0076	0.0048	0.0114	0.0123	0.0151	0.0628	0.0296956	4591	154602	rs9274395	0.0003	0.0032	0.0003	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	7.464e-05	0.0002	0.0001	0	0.0003	0.0006	0.0003	0.0003	0.0011	0.0002	0.0078	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	7.089e-05	0.0002	0	0	0.0014	0	0	0.0046	0.0002	0	0.0006	0.069	0.40068	T	0.043	0.49942	D	0.052	0.22494	B	0.029	0.21540	B	0.099669	0.19922	U	0.369227	0.722216	0.33630	D	.	.	.	8.26	0.00269	T	-3.84	0.75058	D	0.15	0.15328	-0.9881	0.33077	T	0.001	0.00287	T	10	0.006448716	0.00146	T	.	.	.	0.119	0.33137	.	.	.	.	0.18514000446126433	0.18431	0.566269477264	0.52927	0.319175481796	0.13295	T	0.014743	0.12495	T	-0.159806	0.26790	T	-0.467326	0.25804	T	0.051758160492758	0.05806	T	0.0806919	0.00607	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.25656	B	.;.;.;.	.;.;.;.	1.397222	0.18105	13.55	0.99226900122916373	0.56089	0.07262	0.13285	N	ALL	0.271360	0.38723	N	-0.744876639371783	0.14773	0.7387562	-0.902920104954735	0.12025	0.6161842	0.999999967135338	0.74766	0.652421	0.48094	0	0.504199	0.08210	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.06	0.064	0.13666	-0.204000	0.09426	.	.	-0.499000	0.05024	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.0:0.5119:0.4881	10.579	0.44436	940	0.13648	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal;MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	rs9274395	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	.	.	.	.	.	.	.	.	0.2	3476.57	175	chr6	32664926	.	G	A	3476.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=7.2;DP=2299;ExcessHet=1.5895;FS=1.445;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.12;MQRankSum=-7.617;QD=5.29;ReadPosRankSum=-3.501;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,24:142:99:0|1:32664911_T_G:653,0,4883:32664911	6	0	4	0
chr6	33202607	33202607	A	C	exonic	SLC39A7	.	nonsynonymous SNV	SLC39A7:NM_006979:exon5:c.A847C:p.T283P,SLC39A7:NM_001077516:exon6:c.A847C:p.T283P,SLC39A7:NM_001288777:exon6:c.A472C:p.T158P	.	420	1092	9	1	0	11	0.00501139	.	.	.	1630800	SLC39A7-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.046	0.0123859445039	0.0003	0.000199681	0.0009	0	0.0010	0.0001	0	0.0004	0.0012	0.0043	0.0007438	115	154602	rs200100279	0.0005	0.0005	0.0004	0.0006	0.0116	0.0005	0.0004	0.0094	0.0086	3.008e-05	0.0013	0.0002	0.0002	3.825e-05	0.0116	0.0001	0.0008	0.0043	0.0004	0.0004	0.0003	0.0005	0.0031	0.0003	0.0003	0.0019	0.0015	0	0	0.0011	0	0	0	0.0034	0.0003	0.0033	0.0031	0.152	0.24468	T	0.211	0.26631	T	0.291	0.32334	B	0.206	0.37138	B	0.390139	0.04472	N	1.504780	1	0.08975	N	0.74	0.18910	N	0.47	0.56114	T	-1.52	0.36980	N	0.081	0.06059	-1.0562	0.12724	T	0.037	0.15813	T	10	0.0029443204	0.00048	T	0.012386	0.30920	T	0.046	0.12618	.	.	0.181679512989	0.17746	0.3987670462340173	0.39791	0.585093526498	0.54164	0.29743885994	0.10020	T	0.01787	0.14505	T	-0.469437	0.00857	T	-0.447372	0.27988	T	0.00632671245989026	0.00070	T	.	.	.	0.17978448	0.39066	0.28065246	0.54042	0.17978448	0.39066	0.28065246	0.54041	-3.664	0.18788	T	.	.	0.075	0.05711	B	.;.;.	.;.;.	1.016342	0.13959	10.52	0.59485281858266892	0.06235	0.08472	0.14396	N	AEFBCI	0.453989	0.50689	N	-1.2713900618172	0.04024	0.1808677	-1.3106240286889	0.04292	0.2021316	0.999993637063277	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	4.63	-1.59	0.08003	0.220000	0.17445	1.666000	0.27927	-0.156000	0.11795	0.002000	0.15269	0.986000	0.30841	0.588000	0.31090	0.6173:0.0:0.3827:0.0	8.483	0.32212	725	0.54935	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004357	0.000000	0.004076	0.021277	0.050000	0.017544	0.000000	0.000000	0.1	2310.14	39	chr6	33202607	.	A	C	2310.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.995;DP=506;ExcessHet=0.2348;FS=2.499;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.16;ReadPosRankSum=1.73;SOR=0.847	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1273,0,1342	8	0	2	0
chr6	36376024	36376024	C	T	exonic	ETV7	.	nonsynonymous SNV	ETV7:NM_001207035:exon3:c.G154A:p.A52T,ETV7:NM_001207038:exon3:c.G154A:p.A52T,ETV7:NM_016135:exon3:c.G154A:p.A52T	.	427	1094	1	0	0	1	0.00045683	.	.	.	2693384	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00641254949281	7.7e-05	0.000399361	0.0002	0	0.0003	0.0005	0	0.0002	0	0.0005	0.0002005	31	154602	rs145194281	0.0001	0.0002	0.0001	0.0001	0.0005	0.0001	0.0001	0.0002	0.0002	5.984e-05	0.0002	0.0002	0.0004	0.0002	0.0005	0.0001	0.0002	0.0003	0.0001	0.0001	8.994e-05	0.0002	0.0008	8.659e-05	7.252e-05	0.0003	0.0002	4.811e-05	0	0.0003	0	0.0002	9.413e-05	0	0.0001	0	0.0008	0.379	0.11227	T	0.564	0.11968	T	0.014	0.16867	B	0.021	0.19346	B	0.001114	0.40219	N	0.218446	0.999515	0.47363	D	0.895	0.22405	L	1.59	0.28836	T	-0.77	0.24244	N	0.116	0.14196	-0.9895	0.32727	T	0.012	0.04416	T	10	0.04603079	0.03745	T	0.006413	0.16870	T	0.035	0.08770	.	.	0.351614576976	0.34778	0.0930406893030708	0.09236	0.204166068536	0.22834	0.427990913391	0.28934	T	0.023137	0.17715	T	-0.524607	0.00413	T	-0.659273	0.08316	T	0.00903536013673949	0.00113	T	0.552645	0.19352	T	0.033428714	0.03559	0.050278507	0.07858	0.033428714	0.03558	0.050278507	0.07857	-5.496	0.44163	T	.	.	0.127	0.26978	B	.;.;.	.;.;.	1.737461	0.22111	15.48	0.88399417171753969	0.17946	0.64584	0.32454	D	AEFBCI	0.186043	0.31336	N	-1.1054173551733	0.06546	0.3016307	-1.00923251675949	0.09581	0.477511	0.00589609016715724	0.11072	0.643511	0.44296	0	0.688494	0.66719	0	0.467745	0.07146	0	0.542086	0.14980	0	.	.	3.63	0.148	0.14137	1.566000	0.36005	-0.376000	0.09574	-0.976000	0.01917	0.367000	0.25900	0.000000	0.08366	0.204000	0.22012	0.25:0.5209:0.0:0.2291	4.929	0.13262	587	0.69154	.;Pointed domain|Pointed domain|Pointed domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	628.43	33	chr6	36376024	.	C	T	628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.52;ReadPosRankSum=1.29;SOR=0.725	GT:AD:DP:GQ:PL	0/1:39,27:66:99:640,0,904	9	0	1	0
chr6	36721308	36721308	C	-	exonic	RAB44	.	frameshift deletion	RAB44:NM_001257357:exon9:c.1174delC:p.P393Rfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1009120230	0.0012	0.0009	0.0012	0.0012	0.0014	0.0012	0.0012	0.0013	0.0013	0.0002	0.0004	0	3.77e-05	0.0005	0	0.0014	0.0009	0.0006	0.0007	0.0007	0.0006	0.0007	0.0012	0.0006	0.0005	0.0010	0.0009	0.0001	0	0.0002	0	0	0.0007	0	0.0012	0.0010	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1557.1	49	chr6	36721307	.	GC	G	1557.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.289;DP=548;ExcessHet=0.2348;FS=4.818;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=0.886;SOR=0.368	GT:AD:DP:GQ:PL	0/1:23,27:50:99:730,0,597	8	0	2	0
chr6	38845636	38845636	G	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon35:c.G4257T:p.E1419D,DNAH8:NM_001206927:exon36:c.G4908T:p.E1636D	.	437	1043	40	2	0	44	0.0206573	.	.	YES	239918	Primary_ciliary_dyskinesia|Spermatogenic_failure_46	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.062	.	0.0053	0.00638978	0.0075	0.0008	0.0035	0.0002	0.0009	0.0072	0.0099	0.0221	0.0071474	1105	154602	rs61757219	0.0068	0.0068	0.0062	0.0074	0.0226	0.0067	0.0066	0.0217	0.0214	0.0010	0.0036	0.0038	0.0002	0.0012	0.0187	0.0064	0.0067	0.0226	0.0050	0.0050	0.0050	0.0049	0.0191	0.0047	0.0046	0.0159	0.0148	0.0009	0	0.0056	0.0017	0.0002	0.0011	0.0272	0.0074	0.0076	0.0191	0.438	0.09319	T	.	.	.	0.302	0.32608	B	0.229	0.38155	B	0.075996	0.21190	N	0.509796	0.999999	0.08975	N	1	0.25136	L	0.15	0.60734	T	-0.51	0.17624	N	0.18	0.20129	-0.9620	0.38800	T	0.068	0.27980	T	10	0.004161775	0.00082	T	.	.	.	0.062	0.17934	0.443	0.49975	0.540518506614	0.53704	0.3513559497602917	0.35049	0.110355847476	0.12451	0.426474988461	0.28726	T	0.009835	0.40305	T	-0.560414	0.00252	T	-0.560853	0.16297	T	0.0066639197636007	0.00075	T	0.59804	0.22252	T	0.04480855	0.07226	0.052961834	0.08829	0.035336696	0.04141	0.041304443	0.04664	-1.842	0.02637	T	.	.	0.071	0.03736	B	.;.;.	.;.;.	1.375734	0.17868	13.41	0.99028428054756534	0.50742	0.05381	0.11245	N	AEFBI	0.083879	0.16995	N	-0.739642811632707	0.14916	0.7471771	-0.706619607950186	0.16795	0.8901936	2.54996149175176E-4	0.06190	0.623552	0.39893	0	0.588015	0.36545	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.53	-2.42	0.06164	-1.271000	0.02936	0.532000	0.19257	0.676000	0.76740	0.001000	0.13787	0.995000	0.32472	0.998000	0.85391	0.2452:0.0999:0.2495:0.4053	1.224	0.01813	447	0.79583	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.014602	0.020202	0.009511	0.017544	0.050000	0.008621	0.024390	0.018939	0.05	1414.43	38	chr6	38845636	.	G	T	1414.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.876;DP=453;ExcessHet=0;FS=1.388;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.8;ReadPosRankSum=-1.791;SOR=0.557	GT:AD:DP:GQ:PL	0/1:66,65:131:99:1426,0,1522	9	0	1	0
chr6	39362478	39362478	C	G	exonic	KIF6	.	nonsynonymous SNV	KIF6:NM_001289024:exon4:c.G255C:p.Q85H,KIF6:NM_001351566:exon4:c.G255C:p.Q85H,KIF6:NM_001289020:exon16:c.G1851C:p.Q617H,KIF6:NM_001289021:exon16:c.G1734C:p.Q578H,KIF6:NM_145027:exon17:c.G1902C:p.Q634H	.	409	1112	1	0	0	1	0.000449438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00705593962514	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1356025184	2.736e-06	2.736e-06	2.723e-06	2.75e-06	1.159e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0	8.993e-07	3.312e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.39575	T	0.069	0.43913	T	0.553	0.38185	P	0.135	0.33210	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.97	0.42502	T	-1.46	0.38345	N	0.18	0.25130	-0.9867	0.33420	T	0.025	0.10777	T	9	0.098769486	0.17879	T	0.007056	0.18704	T	0.061	0.17616	0.527	0.63263	0.337135696972	0.33324	0.05485542851286626	0.05426	0.0989282270927	0.11174	0.216793194413	0.01133	T	0.009098	0.08305	T	-0.228237	0.16883	T	-0.565623	0.15852	T	0.163034275174141	0.18093	T	0.776822	0.42110	T	0.054751083	0.10549	0.07179254	0.15414	0.054751083	0.10549	0.07179254	0.15413	-4.994	0.36775	T	.	.	0.086	0.18497	B	.;.;.;.	.;.;.;.	0.759742	0.11292	7.919	0.89462110458471034	0.18817	0.06177	0.12161	N	AEFDBHCI	0.104550	0.20916	N	-1.01285651575766	0.08336	0.3905199	-1.16809382902362	0.06449	0.3104708	0.999891020339784	0.45129	0.495158	0.18159	0	0.615948	0.52940	0	0.535252	0.11790	0	0.584449	0.35598	0	.	.	5.23	-4.68	0.03070	-0.393000	0.07366	-2.500000	0.03678	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.267000	0.23694	0.0:0.1628:0.1257:0.7114	9.557	0.38511	899	0.25060	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1055.43	34	chr6	39362478	.	C	G	1055.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.073;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=2.68;SOR=0.632	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1067,0,1448	9	0	1	0
chr6	39900192	39900192	A	G	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon23:c.A2795G:p.N932S,DAAM2:NM_015345:exon23:c.A2792G:p.N931S	.	423	1076	21	2	0	25	0.0114837	.	.	.	3208721	DAAM2-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.057	.	0.0004	0.00199681	0.0029	0.0003	0.0010	0	0	0.0008	0.0031	0.0167	0.0019469	301	154602	rs201309255	0.0012	0.0012	0.0007	0.0016	0.0145	0.0011	0.0011	0.0138	0.0136	0	0.0013	0.0001	2.534e-05	0	0.0033	0.0003	0.0013	0.0145	0.0007	0.0007	0.0006	0.0008	0.0087	0.0006	0.0006	0.0066	0.0059	9.625e-05	0	0.0022	0	0	9.416e-05	0	0.0004	0.0005	0.0087	0.735	0.04379	T	0.855	0.03467	T	0.024	0.19075	B	0.089	0.29769	B	0.144841	0.18166	N	0.587856	0.999602	0.20887	N	0.085	0.08345	N	2.41	0.15492	T	-0.6	0.17834	N	0.164	0.22098	-0.9329	0.43710	T	0.006	0.01944	T	10	0.0056210756	0.00125	T	.	.	.	0.057	0.16321	.	.	0.389984549148	0.38611	0.09421232891520907	0.09353	0.117723410409	0.13256	0.307763725519	0.11569	T	0.021735	0.16878	T	-0.724177	0.00026	T	-0.80133	0.01869	T	0.00950425947968312	0.00123	T	0.772623	0.40374	T	0.042891417	0.06586	0.042034414	0.04915	0.042891417	0.06586	0.042034414	0.04914	-4.182	0.26635	T	.	.	0.053	0.00303	B	.;.;.;.	.;.;.;.	0.177617	0.05655	2.106	0.77087014610030602	0.11731	0.09415	0.15175	N	AEFBCI	0.225159	0.34928	N	-1.07852194424477	0.07040	0.3258706	-1.03611002257717	0.08999	0.4453272	0.993814777994016	0.33367	0.660377	0.49826	0	0.563428	0.19063	0	0.696353	0.63694	0	0.586402	0.36253	0	.	.	5.11	-2.07	0.06873	-0.183000	0.09707	-0.473000	0.08966	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.436:0.3708:0.1932:0.0	5.924	0.18337	777	0.48198	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain;.;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001007	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.000000	0.1	1545.14	33	chr6	39900192	.	A	G	1545.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.16;DP=402;ExcessHet=0.2348;FS=1.496;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.09;ReadPosRankSum=0.276;SOR=0.848	GT:AD:DP:GQ:PL	0/1:34,29:63:99:713,0,810	8	0	2	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4286	847.28	87	chr6	44229406	.	C	T	847.28	.	AC=6;AF=0.429;AN=14;BaseQRankSum=-3.766;DP=1080;ExcessHet=4.5998;FS=191.883;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.19;ReadPosRankSum=0.722;SOR=10.911	GT:AD:DP:GQ:PL	0/1:72,37:109:99:130,0,1393	1	0	6	3
chr6	52403274	52403274	C	T	exonic	PAQR8	.	nonsynonymous SNV	PAQR8:NM_133367:exon2:c.C61T:p.R21C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251	0.0264967686467	.	.	4.32e-05	0	0.0004	0	0	0	0	0	3.23e-05	5	154602	rs751676049	8.903e-06	9.577e-06	5.449e-06	1.24e-05	0.0002	4.97e-06	3.83e-06	0.0001	9.2e-05	0	0.0002	0	0	0	0	1.801e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.027	0.72224	D	1.0	0.90584	D	0.927	0.66185	D	0.000059	0.53742	D	0.128409	1	0.81001	D	.	.	.	0.82	0.48142	T	-3.23	0.65056	D	0.496	0.52918	-0.7583	0.57498	T	0.170	0.51117	T	10	0.40429464	0.55784	T	0.026497	0.49402	D	0.251	0.56024	.	.	0.758307598439	0.75611	0.62581252890368	0.62514	1.34852957792	0.84031	0.597539544106	0.52557	T	0.278778	0.65144	T	-0.2246	0.17369	T	-0.262839	0.48540	T	0.745931446552277	0.43059	D	0.944805	0.81406	D	0.276474	0.50709	0.20679131	0.44909	0.276474	0.50709	0.20679131	0.44908	-6.321	0.48888	T	.	.	0.122	0.40826	B	.;.;.	.;.;.	5.291379	0.88845	29.8	0.99928539385047799	0.99222	0.99113	0.91417	D	AEFDBI	0.813537	0.73598	D	0.556333252960996	0.70469	5.506012	0.533443650102859	0.70254	5.478261	0.999980120731414	0.51787	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.3	4.42	0.52775	4.846000	0.62558	5.889000	0.50737	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1503:0.8497:0.0:0.0	14.241	0.65505	721	0.55360	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	97.43	34	chr6	52403274	.	C	T	97.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.974;DP=481;ExcessHet=0;FS=50.364;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0.891;SOR=6.273	GT:AD:DP:GQ:PL	0/1:55,22:77:99:109,0,1185	9	0	1	0
chr6	56553483	56553483	A	T	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon42:c.T7440A:p.F2480L,DST:NM_001374730:exon52:c.T8418A:p.F2806L,DST:NM_183380:exon52:c.T8418A:p.F2806L,DST:NM_001144770:exon53:c.T8538A:p.F2846L,DST:NM_001144769:exon55:c.T8952A:p.F2984L,DST:NM_001374729:exon57:c.T14676A:p.F4892L,DST:NM_001374722:exon61:c.T15309A:p.F5103L,DST:NM_001374734:exon61:c.T15336A:p.F5112L,DST:NM_001374736:exon61:c.T15309A:p.F5103L	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	512910	Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided|Inborn_genetic_diseases	MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.180	0.00203335163569	0.0014	0.000599042	0.0006	0.0001	0.0009	0	0	0.0010	0	0	0.0006209	96	154602	rs191081991	0.0012	0.0012	0.0012	0.0011	0.0015	0.0011	0.0011	0.0014	0.0014	0.0001	0.0011	3.83e-05	0	1.874e-05	0.0005	0.0015	0.0009	0	0.0008	0.0008	0.0008	0.0008	0.0013	0.0007	0.0006	0.0011	0.0010	0.0003	0	0.0011	0	0	0	0	0.0013	0	0	0.358	0.16038	T	.	.	.	0.008	0.14655	B	0.014	0.16862	B	0.000047	0.53742	D	0.000000	.	.	.	.	.	.	1.52	0.30669	T	-4.59	0.80767	D	0.201	0.48134	-0.9930	0.31827	T	0.031	0.13418	T	9	0.010002196	0.00224	T	0.002033	0.03695	T	0.180	0.45073	.	.	0.570695249167	0.56736	0.10505033960334959	0.10435	0.142631429651	0.16090	0.431594908237	0.29426	T	0.061425	0.31651	T	-0.455327	0.01050	T	-0.434086	0.29473	T	0.0805512078708673	0.10058	T	0.779722	0.41422	T	.	.	.	.	.	.	.	.	-7.829	0.61648	D	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	-0.405952	0.02190	0.217	0.78210279845764985	0.12202	0.18566	0.20313	N	AEFBI	0.198238	0.32511	N	-1.3265883620445	0.03374	0.1506065	-1.43524958161774	0.02906	0.1345811	0.999999155165858	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.61	-7.43	0.01238	-0.719000	0.05078	-0.570000	0.08431	-0.751000	0.03586	0.011000	0.18532	0.000000	0.08366	0.954000	0.50415	0.2964:0.103:0.6006:0.0	13.786	0.62599	208	0.91895	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1836.43	48	chr6	56553483	.	A	T	1836.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.51;DP=530;ExcessHet=0;FS=1.247;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.578;SOR=0.822	GT:AD:DP:GQ:PL	0/1:77,80:157:99:1848,0,1640	9	0	1	0
chr6	56603962	56603962	T	C	exonic	DST	.	nonsynonymous SNV	DST:NM_001374729:exon36:c.A10033G:p.T3345A,DST:NM_001374722:exon40:c.A10666G:p.T3556A,DST:NM_001374734:exon40:c.A10693G:p.T3565A,DST:NM_001374736:exon40:c.A10666G:p.T3556A	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00435289401862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.855e-07	6.84e-07	0	1.378e-06	9.006e-07	0	0	.	.	0	0	0	0	0	0	9.006e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.61437	D	0.581	0.08476	T	0.023	0.18885	B	0.013	0.16460	B	0.702921	0.06213	N	1.192680	.	.	.	.	.	.	0.01	0.67367	T	-0.2	0.22508	N	0.032	0.00825	-1.0533	0.13493	T	0.070	0.28511	T	8	0.065330386	0.08799	T	0.004353	0.10592	T	0.024	0.04979	.	.	0.223474106383	0.21959	.	.	.	.	.	.	.	0.01093	0.09812	T	-0.232474	0.16323	T	-0.571709	0.15292	T	0.0432371097392313	0.04280	T	0.418758	0.12052	T	.	.	.	.	.	.	.	.	-3.69	0.19171	T	.	.	.	.	.	.;.	.;.	-1.152747	0.00581	0.014	0.46600419594078096	0.03745	0.06960	0.12986	N	AEFGBCI	0.037845	0.05266	N	-1.60050480445726	0.01262	0.05490933	-1.68035302591	0.01227	0.05526165	0.99916637981521	0.38622	0.706548	0.73137	0	0.546412	0.12157	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.75	-6.17	0.01912	-0.873000	0.04322	-3.721000	0.02581	-1.660000	0.00814	0.000000	0.06391	0.000000	0.08366	0.303000	0.24570	0.0949:0.3616:0.3125:0.231	3.623	0.07645	251	0.90153	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1464.43	79	chr6	56603962	.	T	C	1464.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.939;DP=527;ExcessHet=0;FS=2.43;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.448;SOR=0.455	GT:AD:DP:GQ:PL	0/1:57,57:114:99:1476,0,1483	9	0	1	0
chr6	63713515	63713515	A	G	exonic	PHF3	.	nonsynonymous SNV	PHF3:NM_001370349:exon15:c.A5663G:p.H1888R,PHF3:NM_001370350:exon15:c.A3734G:p.H1245R,PHF3:NM_015153:exon15:c.A5927G:p.H1976R,PHF3:NM_001370348:exon16:c.A5927G:p.H1976R,PHF3:NM_001290259:exon17:c.A5663G:p.H1888R	.	412	1109	1	0	0	1	0.000450653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0102332364594	0.0010	.	0.0004	9.798e-05	0.0002	0	0	0.0006	0	0	0.0004398	68	154602	rs113309637	0.0007	0.0007	0.0007	0.0007	0.0008	0.0007	0.0006	0.0008	0.0008	8.969e-05	0.0004	7.658e-05	0	5.617e-05	0.0002	0.0008	0.0006	1.159e-05	0.0006	0.0006	0.0006	0.0005	0.0011	0.0005	0.0005	0.0009	0.0008	7.239e-05	0.0044	0.0003	0	0	9.42e-05	0	0.0011	0.0005	0	0.001	0.78490	D	0.181	0.29346	T	0.158	0.28271	B	0.05	0.25278	B	0.001940	0.37643	N	0.000000	0.577294	0.32345	D	1.1	0.28011	L	2.12	0.19726	T	-2.27	0.50666	N	0.394	0.44761	-1.0053	0.28368	T	0.015	0.05946	T	9	0.03209901	0.01355	T	0.010233	0.26522	T	0.106	0.30130	.	.	0.2419029386	0.23804	0.00904847853066808	0.00867	0.419640191628	0.42511	0.47653990984	0.35581	T	0.205798	0.56495	T	-0.400646	0.02293	T	-0.347324	0.39512	T	0.0718698093502121	0.08911	T	0.773323	0.40460	T	0.1500656	0.34182	0.22925201	0.47991	0.1500656	0.34181	0.22925201	0.47990	-2.34	0.04779	T	.	.	0.219	0.44898	B	.;.	.;.	3.152399	0.42675	21.6	0.9707238976938074	0.32243	0.86853	0.46226	D	AEFGBI	0.514623	0.54192	D	-0.183819241149478	0.33809	1.922315	-0.0401954159303901	0.37918	2.226688	0.999178504878302	0.38651	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	5.071000	0.64211	9.208000	0.79221	0.756000	0.94297	0.956000	0.33378	1.000000	0.68203	0.998000	0.85391	0.922:0.0:0.078:0.0	9.752	0.39648	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	.	.	.	.	.	.	.	.	0.05	959.43	34	chr6	63713515	.	A	G	959.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.671;DP=396;ExcessHet=0;FS=1.769;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-0.162;SOR=0.52	GT:AD:DP:GQ:PL	0/1:40,42:82:99:971,0,1010	9	0	1	0
chr6	64945865	64945865	T	G	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon15:c.A2309C:p.Q770P,EYS:NM_001292009:exon15:c.A2309C:p.Q770P	Retinitis pigmentosa 25	2	1498	21	1	0	23	0.00761842	.	.	YES	99508	not_provided|Retinitis_pigmentosa_25|EYS-related_disorder|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|.|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.344	0.156062011435	.	0.00159744	0.0030	0	0.0073	0	0	0.0005	0	0.0067	0.0004916	76	154602	rs398123574	0.0006	0.0005	0.0004	0.0008	0.0062	0.0005	0.0005	0.0057	0.0055	0.0002	0.0003	0.0003	2.809e-05	2.031e-05	0.0037	0.0002	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	2.407e-05	0	0	0	0	0	0	0.0004	0.0009	0.0079	0.348	0.12386	T	0.081	0.43159	T	0.994	0.66517	D	0.737	0.55577	P	.	.	.	.	0.998745	0.21941	N	1.5	0.37844	L	-2.05	0.86216	D	-1.51	0.36787	N	0.376	0.41754	-0.1664	0.78515	T	0.499	0.81048	T	9	0.007982731	0.00181	T	0.156062	0.83689	D	0.344	0.66582	.	.	0.535439087667	0.53195	0.972809422957025	0.97269	0.0159416971316	0.01523	0.257191330194	0.04562	T	0.026495	0.19595	T	-0.297945	0.08855	T	-0.198419	0.54796	T	0.0266984907649297	0.01503	T	0.441756	0.12241	T	0.222128	0.44805	0.23040426	0.48142	0.2326741	0.46059	0.2054426	0.44713	-8.491	0.64370	D	0.6818919307570994	0.75840	0.353	0.56793	A	.;.	.;.	2.881389	0.38135	20.7	0.93232170797979319	0.22914	0.89096	0.49359	D	AEFI	0.414808	0.48392	N	0.0678100956216895	0.44965	2.761136	-0.0335103225406271	0.38212	2.248075	2.38709261326093E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.31	3.12	0.34986	1.514000	0.35441	1.516000	0.27058	0.574000	0.29054	0.999000	0.42656	0.008000	0.19753	0.934000	0.47231	0.0:0.1035:0.0:0.8965	7.723	0.27908	789	0.46346	.;.	.	.	.	.	.	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	0.003106	0.000000	0.000000	0.009615	0.000000	0.000000	0.000000	0.000000	0.05	801.43	34	chr6	64945865	.	T	G	801.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.922;DP=419;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=-0.146;SOR=0.65	GT:AD:DP:GQ:PL	0/1:56,41:97:99:813,0,1290	9	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	619.04	57	chr6	87418396	.	G	C	619.04	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-0.755;DP=604;ExcessHet=1.5895;FS=224.048;InbreedingCoeff=-0.2907;MLEAC=4;MLEAF=0.222;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.865;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,26:55:99:0|1:87418396_G_C:297,0,237:87418396	5	0	4	1
chr6	99380330	99380330	G	A	exonic	COQ3	.	nonsynonymous SNV	COQ3:NM_017421:exon3:c.C245T:p.A82V	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0100	0.0107827	0.0031	0.0314	0.0021	0	0	0.0002	0	0.0004	0.0028654	443	154602	rs111455620	0.0010	0.0011	0.0012	0.0009	0.0334	0.0010	0.0010	0.0317	0.0311	0.0334	0.0028	0.0015	0	0	0.0014	5.037e-05	0.0026	0.0003	0.0098	0.0098	0.0101	0.0094	0.0328	0.0093	0.0092	0.0314	0.0308	0.0328	0	0.0066	0.0006	0	0	0	7.351e-05	0.0066	0.0002	0.48	0.08237	T	0.433	0.13595	T	0.001	0.07471	B	0.001	0.04355	B	0.338147	0.14005	N	0.710705	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	0.27	0.04306	N	0.051	0.02272	-0.9427	0.42185	T	0.005	0.01688	T	10	0.003418833	0.00060	T	.	.	.	0.009	0.00846	.	.	0.0846915920261	0.08053	0.3234851800120706	0.32261	0.0570085514452	0.06303	0.204086884856	0.00585	T	0.020839	0.16335	T	-0.767149	0.00014	T	-0.849666	0.00964	T	0.000273412092301188	0.00002	T	0.30107	0.05662	T	0.022116918	0.00853	0.02739742	0.00889	0.022116918	0.00853	0.02739742	0.00889	-2.972	0.09882	T	.	.	0.079	0.07177	B	.	.	0.260852	0.06395	2.860	0.78476678722029514	0.12317	0.03836	0.09183	N	AEFI	0.069582	0.13779	N	-1.41066776971381	0.02544	0.1124849	-1.39006867755282	0.03357	0.1564246	2.45092161958199E-4	0.06141	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.59	-1.89	0.07271	-0.753000	0.04897	0.439000	0.18405	-0.182000	0.10109	0.000000	0.06391	0.005000	0.19230	0.021000	0.11733	0.2532:0.1109:0.3372:0.2988	0.901	0.01192	571	0.70397	.	.	.	.	.	.	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	0.002518	0.010101	0.002717	0.005848	0.000000	0.000000	0.000000	0.003788	0.1	1451.14	33	chr6	99380330	.	G	A	1451.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.543;DP=361;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=16.12;ReadPosRankSum=0.637;SOR=0.781	GT:AD:DP:GQ:PL	0/1:18,35:53:99:842,0,413	8	0	2	0
chr6	100642628	100642628	A	G	exonic	ASCC3	.	nonsynonymous SNV	ASCC3:NM_006828:exon24:c.T3854C:p.I1285T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	0.102775253163	0.0018	0.000798722	0.0004	0.0045	0.0002	0	0	5.994e-05	0	0	0.0003946	61	154602	rs149055216	0.0001	0.0001	0.0001	0.0001	0.0036	0.0001	0.0001	0.0030	0.0028	0.0036	0.0004	0	0	0	0	1.349e-05	0.0004	0	0.0012	0.0012	0.0014	0.0010	0.0043	0.0011	0.0010	0.0038	0.0036	0.0043	0	0.0006	0	0	0	0	0	0.0009	0	0.004	0.65419	D	0.005	0.72224	D	0.998	0.73220	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.725	0.79712	M	-0.03	0.63077	T	-3.78	0.71519	D	0.944	0.95139	-0.0770	0.80620	T	0.398	0.74988	T	10	0.07797846	0.12373	T	0.102775	0.77644	D	0.724	0.90280	.	.	0.753514998094	0.75128	0.8172165775823037	0.81678	0.995167280949	0.74201	0.918202996254	0.98183	D	0.18877	0.54278	T	0.0281029	0.55469	T	0.267447	0.86446	D	0.0697010767440334	0.08609	T	0.990401	0.97014	D	0.63222957	0.74417	0.5222677	0.72399	0.63222957	0.74418	0.5222677	0.72400	-9.992	0.73864	D	.	.	0.949	0.86751	P	.	.	4.499637	0.70358	25.5	0.99878349263811939	0.95491	0.99163	0.92158	D	AEFGBI	0.881562	0.80903	D	0.830455776640382	0.87968	9.40561	0.781440056696169	0.88475	9.595799	0.999987507556938	0.51787	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	9.321000	0.95528	11.251000	0.90746	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.969	0.70868	906	0.23090	Sec63 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	0.001511	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	3268.14	34	chr6	100642628	.	A	G	3268.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.21;DP=554;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.123;SOR=0.709	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1526,0,1286	8	0	2	0
chr6	116647521	116647521	T	C	exonic	ZUP1	.	nonsynonymous SNV	ZUP1:NM_001361191:exon7:c.A818G:p.E273G,ZUP1:NM_001361189:exon8:c.A1406G:p.E469G,ZUP1:NM_001361190:exon8:c.A902G:p.E301G,ZUP1:NM_145062:exon8:c.A1406G:p.E469G	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0112721501329	0.0009	0.000399361	0.0010	0	0.0005	0	0	0.0017	0.0022	0.0001	0.0009767	151	154602	rs145019610	0.0008	0.0008	0.0008	0.0008	0.0012	0.0008	0.0008	0.0006	0.0004	5.991e-05	0.0006	0.0221	0	1.895e-05	0.0012	0.0004	0.0021	5.906e-05	0.0010	0.0010	0.0010	0.0010	0.0012	0.0009	0.0008	0.0008	0.0007	2.406e-05	0	0.0012	0.0265	0	9.422e-05	0	0.0006	0.0014	0.0002	0.183	0.21718	T	0.309	0.19782	T	0.004	0.12183	B	0.004	0.10090	B	0.143679	0.18203	N	0.590360	0.68812	0.33299	D	.	.	.	1.48	0.31731	T	0.08	0.06026	N	0.199	0.21969	-1.0342	0.19109	T	0.016	0.06664	T	10	0.0035780668	0.00065	T	0.011272	0.28723	T	0.137	0.36984	.	.	0.238096912614	0.23440	0.3370921876838863	0.33622	0.392253626547	0.40409	0.389418780804	0.23587	T	0.001211	0.00709	T	-0.539341	0.00338	T	-0.630534	0.10374	T	0.0347988766970412	0.02775	T	0.582242	0.21111	T	0.13868183	0.32064	0.06918779	0.14545	0.13868183	0.32064	0.06918779	0.14544	-5.078	0.37674	T	.	.	0.076	0.06114	B	.	.	2.127782	0.27087	17.34	0.96888735901079237	0.31488	0.75199	0.36808	D	AEFBI	0.185689	0.31301	N	-0.467145087098508	0.23162	1.24193	-0.259166875711531	0.29457	1.650484	0.957874029027005	0.28329	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.631631	0.49550	0	.	.	5.28	4.15	0.47978	1.098000	0.30612	3.260000	0.37085	0.609000	0.47794	0.977000	0.34929	1.000000	0.68203	0.834000	0.39329	0.0:0.114:0.0:0.886	9.715	0.39436	508	0.75398	.	.	.	.	.	.	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	0.000000	0.000000	0.002924	0.000000	0.008621	0.006098	0.000000	0.1	1628.14	42	chr6	116647521	.	T	C	1628.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.187;DP=435;ExcessHet=0.2348;FS=1.313;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.39;ReadPosRankSum=-0.101;SOR=0.832	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1036,0,740	8	0	2	0
chr6	116660743	116660743	-	AAGCTGT	exonic	ZUP1	.	frameshift insertion	ZUP1:NM_001361191:exon2:c.74_75insACAGCTT:p.F25Lfs*9,ZUP1:NM_001361189:exon3:c.662_663insACAGCTT:p.F221Lfs*9,ZUP1:NM_001361190:exon3:c.158_159insACAGCTT:p.F53Lfs*9,ZUP1:NM_145062:exon3:c.662_663insACAGCTT:p.F221Lfs*9	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1030.39	33	chr6	116660743	.	A	AAAGCTGT	1030.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.555;DP=369;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.46;ReadPosRankSum=-0.41;SOR=0.634	GT:AD:DP:GQ:PL	0/1:31,28:59:99:1042,0,1177	9	0	1	0
chr6	125927739	125927739	C	T	exonic	NCOA7	.	nonsynonymous SNV	NCOA7:NM_001199622:exon4:c.C431T:p.T144I,NCOA7:NM_001199621:exon13:c.C2255T:p.T752I,NCOA7:NM_001122842:exon14:c.C2567T:p.T856I,NCOA7:NM_181782:exon14:c.C2600T:p.T867I,NCOA7:NM_001199619:exon15:c.C2600T:p.T867I,NCOA7:NM_001199620:exon16:c.C2600T:p.T867I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.0337695859575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.046049	0.999991	0.58761	D	2.645	0.77386	M	0.85	0.47130	T	-4.55	0.78553	D	0.593	0.61341	-0.3737	0.72848	T	0.322	0.69099	T	10	0.5296869	0.63112	D	0.03377	0.55213	D	0.310	0.63162	0.542	0.65446	0.110392049598	0.10638	0.7361813659560693	0.73563	0.493758875756	0.47968	0.727325379848	0.71116	T	0.326126	0.69677	T	0.0912494	0.63330	D	-0.106703	0.62872	T	0.981613278388977	0.74012	D	0.966203	0.94055	D	0.912213	0.92502	0.8593696	0.92136	0.912213	0.92503	0.8593696	0.92136	-7.026	0.57596	T	.	.	0.909	0.86127	P	.;.;.;.;.	.;.;.;.;.	4.862997	0.79599	27.1	0.99875501728492933	0.95244	0.87302	0.46800	D	AEFBCI	0.314837	0.41958	N	0.790928341836536	0.85532	8.604846	0.755157991166596	0.86543	8.92262	0.999999978872137	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.8	5.8	0.92081	4.226000	0.58405	7.713000	0.66906	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	20.071	0.97721	817	0.41665	TLDc domain|TLDc domain;TLDc domain|TLDc domain;.;TLDc domain|TLDc domain;TLDc domain|TLDc 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	.	.	.	.	.	.	.	.	0.1	87.93	34	chr6	125927739	.	C	T	87.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.76;DP=893;ExcessHet=0.2348;FS=135.939;InbreedingCoeff=-0.1356;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.25;ReadPosRankSum=1.45;SOR=8.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:165,23:195:59:.:.:59,0,5485:.	8	0	2	0
chr6	128083813	128083813	C	T	exonic	PTPRK	.	nonsynonymous SNV	PTPRK:NM_001291983:exon8:c.G1090A:p.V364I,PTPRK:NM_001135648:exon9:c.G1477A:p.V493I,PTPRK:NM_001291981:exon9:c.G1477A:p.V493I,PTPRK:NM_001291982:exon9:c.G1477A:p.V493I,PTPRK:NM_001291984:exon9:c.G1477A:p.V493I,PTPRK:NM_002844:exon9:c.G1477A:p.V493I	.	429	1052	39	2	0	43	0.0200279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	.	0.0032	0.00519169	0.0070	0.0004	0.0011	0.0001	0.0044	0.0039	0.0078	0.0326	0.0062548	967	154602	rs61756668	0.0048	0.0048	0.0038	0.0058	0.0340	0.0047	0.0047	0.0329	0.0325	0.0005	0.0009	0.0060	0.0002	0.0038	0.0090	0.0031	0.0050	0.0340	0.0037	0.0037	0.0030	0.0044	0.0312	0.0034	0.0033	0.0271	0.0256	0.0005	0.0033	0.0009	0.0063	0.0004	0.0041	0.0102	0.0044	0.0024	0.0312	0.742	0.03787	T	0.935	0.02804	T	0.974	0.59044	D	0.973	0.76113	D	0.000004	0.62929	D	0.061993	0.999777	0.48980	D	0.495	0.13372	N	3.03	0.08898	T	-0.19	0.09965	N	0.107	0.14905	-0.9453	0.41764	T	0.019	0.08079	T	10	0.007073939	0.00161	T	.	.	.	0.113	0.31778	.	.	0.174091166621	0.17034	0.16846825306963933	0.16766	1.1496403519	0.79166	0.412784636021	0.26842	T	0.026472	0.22997	T	-0.532851	0.00370	T	-0.513113	0.20995	T	0.0355503563601861	0.02903	T	.	.	.	0.033219963	0.03497	0.04853635	0.07229	0.033219963	0.03497	0.04853635	0.07229	-6.871	0.53792	T	.	.	0.072	0.07937	B	.;.;.;.;.;.	.;.;.;.;.;.	4.038878	0.59774	24.1	0.94339044324088406	0.24678	0.94404	0.61057	D	AEFGBI	0.500393	0.53367	D	0.0233442524882735	0.42917	2.595069	0.190487342982992	0.49324	3.137001	0.999874279405602	0.44625	0.732398	0.92422	0	0.588015	0.36545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	4.605000	0.60825	4.911000	0.45953	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.9234:0.0:0.0766	14.122	0.64723	704	0.57414	.;.;.;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	347.43	35	chr6	128083813	.	C	T	347.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.371;DP=363;ExcessHet=0;FS=1.218;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.27;ReadPosRankSum=-1.239;SOR=0.43	GT:AD:DP:GQ:PL	0/1:23,19:42:99:359,0,491	9	0	1	0
chr6	129148991	129148991	G	A	exonic	LAMA2	.	nonsynonymous SNV	LAMA2:NM_000426:exon7:c.G922A:p.E308K,LAMA2:NM_001079823:exon7:c.G922A:p.E308K	Muscular dystrophy, congenital merosin-deficient, Autosomal recessive;Muscular dystrophy, congenital, due to partial LAMA2 deficiency, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	237299	not_provided|LAMA2-related_muscular_dystrophy|not_specified|Congenital_muscular_dystrophy_due_to_partial_LAMA2_deficiency	MedGen:C3661900|MONDO:MONDO:0100228,MedGen:C5679788|MedGen:CN169374|MedGen:C1842898	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.161	0.0173803037009	0.0012	0.000199681	0.0011	0.0003	0.0008	0	0	0.0015	0.0022	0.0014	0.0010802	167	154602	rs146462599	0.0012	0.0012	0.0011	0.0013	0.0038	0.0012	0.0012	0.0026	0.0022	8.978e-05	0.0007	0.0016	0	1.872e-05	0.0038	0.0013	0.0013	0.0018	0.0009	0.0009	0.0009	0.0009	0.0016	0.0008	0.0007	0.0013	0.0012	0.0002	0	0.0005	0.0023	0	0	0.0068	0.0016	0.0009	0.0008	0.117	0.28271	T	.	.	.	0.955	0.54515	P	0.698	0.54098	P	0.000003	0.62929	D	0.059258	0.999984	0.54805	D	2.075	0.57047	M	-0.02	0.62918	T	-1.61	0.38734	N	0.586	0.61933	-0.8207	0.53890	T	0.230	0.59558	T	10	0.1259566	0.23941	T	0.01738	0.39055	T	0.161	0.41658	.	.	0.78777203786	0.78580	0.7473029635569127	0.74676	0.4355629293	0.43657	0.520483851433	0.41694	T	0.024861	0.47531	T	-0.24648	0.14533	T	-0.134092	0.60625	T	0.0331931516024395	0.02503	T	0.940639	0.77718	D	0.27182102	0.50252	0.2773832	0.53691	0.27182102	0.50252	0.2773832	0.53690	-7.186	0.55380	T	.	.	0.126	0.26731	B	.;.;.	.;.;.	5.190710	0.87057	29.1	0.99892958388140418	0.96666	0.98990	0.89628	D	AEFBI	0.855367	0.77248	D	0.626966317967163	0.74887	6.20951	0.680847899201418	0.80929	7.408827	0.999985139180701	0.51787	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.92	5.92	0.95557	6.293000	0.72717	9.901000	0.82349	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1372:0.8628:0.0	16.765	0.85383	903	0.23940	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;Laminin EGF domain|Laminin EGF domain|Laminin EGF 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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	226.43	35	chr6	129148991	.	G	A	226.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.442;DP=358;ExcessHet=0;FS=2.937;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=4.92;ReadPosRankSum=-1.902;SOR=1.279	GT:AD:DP:GQ:PL	0/1:34,12:46:99:238,0,883	9	0	1	0
chr6	136362638	136362655	GGCTGGAGCTGGGGCCGA	-	exonic	MAP7	.	nonframeshift deletion	MAP7:NM_001198617:exon9:c.1039_1056del:p.S347_A352del,MAP7:NM_001198611:exon10:c.1276_1293del:p.S426_A431del,MAP7:NM_001198616:exon10:c.1210_1227del:p.S404_A409del,MAP7:NM_001198608:exon11:c.1387_1404del:p.S463_A468del,MAP7:NM_001198609:exon11:c.1411_1428del:p.S471_A476del,MAP7:NM_001198615:exon11:c.1276_1293del:p.S426_A431del,MAP7:NM_001198618:exon11:c.883_900del:p.S295_A300del,MAP7:NM_001198619:exon11:c.883_900del:p.S295_A300del,MAP7:NM_003980:exon11:c.1321_1338del:p.S441_A446del,MAP7:NM_001198614:exon12:c.1387_1404del:p.S463_A468del	.	402	1118	1	1	0	3	0.00133988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	.	0.0011	0.0006	0.0003	0.0054	0.0039	0.0007	0.0012	0.0003	3.84e-05	1	26028	rs780805556	0.0005	0.0006	0.0005	0.0005	0.0036	0.0005	0.0005	0.0031	0.0029	0.0005	0.0006	3.833e-05	0.0036	0.0033	0.0002	0.0003	0.0015	0.0003	0.0011	0.0012	0.0009	0.0014	0.0068	0.0010	0.0009	0.0050	0.0044	0.0005	0	0.0011	0	0.0068	0.0059	0	0.0005	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	885.39	35	chr6	136362637	.	GGGCTGGAGCTGGGGCCGA	G	885.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.107;DP=419;ExcessHet=0;FS=2.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.5;ReadPosRankSum=-1.079;SOR=0.588	GT:AD:DP:GQ:PL	0/1:52,25:77:99:897,0,2079	9	0	1	0
chr6	138432300	138432300	C	A	exonic	NHSL1	.	nonsynonymous SNV	NHSL1:NM_020464:exon5:c.G2057T:p.R686L,NHSL1:NM_001144060:exon6:c.G2045T:p.R682L	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.0339049893189	0.0064	0.00179712	0.0038	0.0014	0.0074	0	0.0007	0.0074	0.0042	0.0011	0.0016559	256	154602	rs183135718	0.0068	0.0065	0.0070	0.0065	0.0080	0.0067	0.0066	0.0078	0.0078	0.0012	0.0061	0.0044	0	0.0008	0.0040	0.0080	0.0072	0.0011	0.0046	0.0045	0.0051	0.0040	0.0070	0.0043	0.0042	0.0065	0.0063	0.0019	0	0.0065	0.0040	0	0.0004	0.0136	0.0070	0.0090	0.0002	0.001	0.78490	D	0.085	0.41239	T	0.999	0.77913	D	0.964	0.71005	D	0.000000	0.84330	D	0.000000	0.999986	0.54805	D	3.285	0.90273	M	0.48	0.55945	T	-6.19	0.90332	D	0.568	0.59138	-0.5694	0.66039	T	0.253	0.62326	T	10	0.009147435	0.00207	T	0.033905	0.55311	D	0.202	0.48754	.	.	0.379881503574	0.37595	0.5972983626542986	0.59660	.	.	0.537414193153	0.44081	T	0.302394	0.67479	T	-0.210835	0.19261	T	-0.0685201	0.65731	T	0.0591558390010402	0.07034	T	0.956904	0.83579	D	0.61751527	0.73630	0.5793423	0.75620	0.61751527	0.73631	0.5793423	0.75621	-15.547	0.97001	D	.	.	0.627	0.69979	P	.;.	.;.	4.332650	0.66407	25.0	0.99861648298551686	0.94002	0.98465	0.83062	D	AEFBI	0.764839	0.70150	D	0.680843647361987	0.78376	6.859369	0.629613894918174	0.77101	6.614854	0.999999963304258	0.74766	0.706548	0.73137	0	0.54472	0.11627	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.25	4.37	0.51830	4.574000	0.60613	2.760000	0.34598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.9236:0.0:0.0764	13.227	0.59345	892	0.26670	.;.	.	.	.	.	.	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	0.005376	0.015789	0.000000	0.004237	0.071429	0.000000	0.000000	0.000000	0.05	940.43	64	chr6	138432300	.	C	A	940.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.448;DP=599;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=-1.362;SOR=0.653	GT:AD:DP:GQ:PL	0/1:23,38:61:99:952,0,517	9	0	1	0
chr6	143941821	143941821	T	G	exonic	PLAGL1	.	nonsynonymous SNV	PLAGL1:NM_001317157:exon3:c.A995C:p.E332A,PLAGL1:NM_001317158:exon3:c.A839C:p.E280A,PLAGL1:NM_001289038:exon4:c.A839C:p.E280A,PLAGL1:NM_001289047:exon4:c.A995C:p.E332A,PLAGL1:NM_001317156:exon4:c.A995C:p.E332A,PLAGL1:NM_001289037:exon5:c.A839C:p.E280A,PLAGL1:NM_001289039:exon5:c.A839C:p.E280A,PLAGL1:NM_001289042:exon5:c.A995C:p.E332A,PLAGL1:NM_001080955:exon6:c.A839C:p.E280A,PLAGL1:NM_001080956:exon6:c.A839C:p.E280A,PLAGL1:NM_001289040:exon6:c.A839C:p.E280A,PLAGL1:NM_001289041:exon6:c.A839C:p.E280A,PLAGL1:NM_001289044:exon6:c.A995C:p.E332A,PLAGL1:NM_001289049:exon6:c.A995C:p.E332A,PLAGL1:NM_001317160:exon6:c.A839C:p.E280A,PLAGL1:NM_001080952:exon7:c.A995C:p.E332A,PLAGL1:NM_001080953:exon7:c.A995C:p.E332A,PLAGL1:NM_001080954:exon7:c.A995C:p.E332A,PLAGL1:NM_001289043:exon7:c.A995C:p.E332A,PLAGL1:NM_001289045:exon7:c.A995C:p.E332A,PLAGL1:NM_001289048:exon7:c.A995C:p.E332A,PLAGL1:NM_001317161:exon7:c.A995C:p.E332A,PLAGL1:NM_006718:exon7:c.A995C:p.E332A,PLAGL1:NM_001080951:exon8:c.A995C:p.E332A,PLAGL1:NM_001317159:exon8:c.A995C:p.E332A,PLAGL1:NM_001317162:exon8:c.A995C:p.E332A,PLAGL1:NM_001289046:exon9:c.A995C:p.E332A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0113607948419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.28	0.92824	T	0.264	0.31602	B	0.057	0.26280	B	0.000192	0.48115	N	0.092055	0.959292	0.38119	D	1.955	0.52871	M	2.9	0.10101	T	-2.16	0.48850	N	0.398	0.58543	-1.0502	0.14341	T	0.007	0.02360	T	10	0.15457955	0.29155	T	0.011361	0.28906	T	0.063	0.18251	0.253	0.19223	0.250512400709	0.24649	0.2814869814286308	0.28061	1.1607949559	0.79478	0.37343069911	0.21323	T	0.272245	0.64462	T	-0.207795	0.19691	T	-0.536259	0.18666	T	0.824608325958252	0.48117	D	0.79572	0.56927	T	0.1710014	0.37708	0.10296994	0.24694	0.1710014	0.37708	0.10296994	0.24694	-3.578	0.17539	T	.	.	0.765	0.75723	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.629628	0.51407	23.1	0.96073074093428856	0.28629	0.90814	0.52311	D	AEFDBCI	0.609851	0.59890	D	-0.231435109467928	0.31850	1.790142	-0.038461257489482	0.37994	2.232208	0.658591088995926	0.22245	0.706298	0.61202	0	0.709663	0.81188	0	0.675528	0.61593	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	2.064000	0.41059	6.144000	0.54095	0.609000	0.47794	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.0779:0.0:0.9221	9.587	0.38686	869	0.31655	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1525.43	34	chr6	143941821	.	T	G	1525.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.228;DP=431;ExcessHet=0;FS=1.429;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.2;ReadPosRankSum=-0.385;SOR=0.859	GT:AD:DP:GQ:PL	0/1:62,63:125:99:1537,0,1512	9	0	1	0
chr6	148543716	148543716	C	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon11:c.C1529T:p.S510L,SASH1:NM_001346508:exon11:c.C2018T:p.S673L,SASH1:NM_001346509:exon11:c.C1895T:p.S632L,SASH1:NM_001346505:exon18:c.C2111T:p.S704L,SASH1:NM_015278:exon18:c.C2246T:p.S749L,SASH1:NM_001346506:exon19:c.C1874T:p.S625L	.	417	1090	15	0	0	15	0.00683371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00640577562844	0.0002	0.000998403	0.0007	0	0.0003	0	0	6.241e-05	0.0012	0.0067	0.0006468	100	154602	rs138913048	0.0003	0.0003	0.0002	0.0005	0.0048	0.0003	0.0003	0.0044	0.0042	3.123e-05	2.541e-05	0	2.558e-05	0	0.0018	2.577e-05	0.0004	0.0048	0.0002	0.0002	0.0001	0.0003	0.0054	0.0002	0.0001	0.0038	0.0032	0	0	0	0	0	0	0.0102	4.41e-05	0	0.0054	0.071	0.35165	T	0.472	0.31527	T	0.001	0.07471	B	0.002	0.06944	B	0.033633	0.24874	N	0.439290	0.966398	0.38527	D	2.045	0.56016	M	1.08	0.39401	T	-2.36	0.52128	N	0.192	0.25253	-1.0389	0.17648	T	0.062	0.25923	T	10	0.004956901	0.00106	T	0.006406	0.16841	T	0.057	0.16321	.	.	0.619004339632	0.61592	0.3150039992461185	0.31413	0.131701140582	0.14851	0.410920679569	0.26585	T	0.025131	0.21720	T	-0.524104	0.00416	T	-0.524662	0.19824	T	0.047493846159901	0.05053	T	0.886911	0.61435	D	0.11728575	0.27653	0.08419998	0.19352	0.097044855	0.22867	0.08497029	0.19586	-5.259	0.39536	T	0.1646277008792782	0.20356	0.085	0.15832	B	.;.	.;.	2.750962	0.36054	20.1	0.99472638887301112	0.66419	0.96891	0.71503	D	AEFDBI	0.267913	0.38451	N	-0.15132286854229	0.35178	2.017341	-0.0761912689404787	0.36376	2.116221	0.999999931408953	0.74766	0.719381	0.83141	0	0.59043	0.45803	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.83	4.83	0.61880	4.221000	0.58371	3.308000	0.37439	0.599000	0.40250	0.997000	0.40164	0.998000	0.33993	0.268000	0.23719	0.0:0.9122:0.0:0.0878	10.732	0.45302	956	0.09877	.;.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.000000	0.1	2292.14	36	chr6	148543716	.	C	T	2292.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.863;DP=467;ExcessHet=0.2348;FS=1.843;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.167;SOR=0.852	GT:AD:DP:GQ:PL	0/1:42,40:82:99:1054,0,1003	8	0	2	0
chr6	150683817	150683817	C	T	exonic	PLEKHG1	.	nonsynonymous SNV	PLEKHG1:NM_001329798:exon1:c.C55T:p.R19C	.	428	1065	27	2	0	31	0.0143452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00299521	0.0103	0	0.0109	0	.	0.0012	0	0.0142	0.0008538	132	154602	rs140748525	0.0012	0.0010	0.0007	0.0017	0.0120	0.0012	0.0011	0.0114	0.0111	8.21e-05	0.0002	0.0003	0	7.914e-05	0.0112	0.0003	0.0022	0.0120	0.0006	0.0006	0.0005	0.0007	0.0088	0.0005	0.0005	0.0067	0.0059	0.0002	0	0.0003	0	0.0002	0	0.0034	0.0005	0.0009	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	2954.14	33	chr6	150683817	.	C	T	2954.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=522;ExcessHet=0.2348;FS=0.479;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.36;ReadPosRankSum=0.492;SOR=0.749	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1507,0,1286	8	0	2	0
chr6	152148240	152148240	G	C	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_001347702:exon8:c.C1246G:p.L416V,SYNE1:NM_001347701:exon10:c.C1387G:p.L463V,SYNE1:NM_033071:exon136:c.C24568G:p.L8190V,SYNE1:NM_182961:exon137:c.C24781G:p.L8261V	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	274519	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.093	0.0454524434625	.	0.000199681	7.435e-05	0	0	0	0	4.504e-05	0	0.0004	6.47e-05	10	154602	rs567391477	0.0001	0.0001	0.0001	0.0001	0.0006	0.0001	0.0001	0.0005	0.0005	2.988e-05	0	0	0	0	0.0002	0.0001	4.969e-05	0.0006	2.626e-05	2.624e-05	1.285e-05	4.027e-05	0.0004	8.14e-06	5.14e-06	7.293e-05	3.03e-05	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0.0004	0.321	0.15047	T	0.035	0.53072	D	0.985	0.61118	D	0.783	0.57419	P	0.000222	0.47286	D	0.000000	0.99849	0.51308	D	1.96	0.53105	M	0.41	0.57100	T	-1.24	0.39887	N	0.413	0.67304	-0.8541	0.51682	T	0.168	0.50713	T	10	0.089764	0.15577	T	0.045452	0.61989	D	0.093	0.26882	.	.	0.53206879849	0.52855	0.4137263694901299	0.41288	0.462538365587	0.45786	0.521770715714	0.41875	T	0.143381	0.47946	T	-0.24971	0.14133	T	-0.253737	0.49447	T	0.136144042015076	0.15938	T	0.925008	0.72455	D	0.061074544	0.12605	0.075691976	0.16691	0.061074544	0.12605	0.075691976	0.16690	-5.45	0.41397	T	.	.	0.069	0.07507	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.706496	0.35366	19.88	0.96215953151699773	0.29069	0.97227	0.73442	D	AEFDBI	0.555688	0.56603	D	0.031960619798418	0.43312	2.626712	-0.0249136693927394	0.38593	2.275974	0.999997531332467	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.12	4.24	0.49486	4.103000	0.57517	7.298000	0.58079	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.298000	0.24452	0.0766:0.0:0.9234:0.0	13.424	0.60465	869	0.31655	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1564.43	39	chr6	152148240	.	G	C	1564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=468;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=-0.489;SOR=0.885	GT:AD:DP:GQ:PL	0/1:58,62:120:99:1576,0,1347	9	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L,SYNE1:NM_182961:exon78:c.G13570C:p.V4524L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00754825800838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.034	0.53072	D	0.003	0.11197	B	0.004	0.10090	B	0.325020	0.14208	N	0.660669	1	0.81001	D	0.69	0.16971	N	1.38	0.34050	T	-0.86	0.23372	N	0.117	0.11340	-0.9824	0.34445	T	0.014	0.05513	T	10	0.042183667	0.02943	T	0.007548	0.20033	T	0.031	0.07369	0.323	0.30387	0.170165803431	0.16609	0.20548542717459714	0.20465	0.130822632684	0.14758	0.293257117271	0.09399	T	0.127862	0.45515	T	-0.311759	0.07593	T	-0.685596	0.06647	T	0.025374189688588	0.01322	T	0.79652	0.44001	T	0.047435828	0.08107	0.051205635	0.08193	0.047435828	0.08107	0.051205635	0.08192	-0.288	0.00468	T	.	.	0.131	0.28145	B	.;.	.;.	0.577523	0.09458	6.239	0.69415960505877994	0.08965	0.95287	0.64137	D	AEFDBI	0.517551	0.54362	D	-0.98190325063367	0.08989	0.4236828	-0.848130851139563	0.13332	0.6910612	0.0729640935166664	0.15619	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	6.03	0.886	0.18329	1.409000	0.34288	-0.077000	0.12225	-0.313000	0.06017	1.000000	0.71638	0.000000	0.08366	0.599000	0.31363	0.0:0.5304:0.1169:0.3527	6.318	0.20409	847	0.35998	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2143	326.48	164	chr6	152331115	.	C	G	326.48	.	AC=3;AF=0.214;AN=14;BaseQRankSum=-4.324;DP=1368;ExcessHet=0.7463;FS=279.975;InbreedingCoeff=-0.2893;MLEAC=4;MLEAF=0.286;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=1.19;SOR=11.121	GT:AD:DP:GQ:PL	0/1:75,36:121:99:266,0,1207	4	0	3	3
chr6	154093424	154093441	GTGGAGCATTTCTCCTGA	-	exonic	OPRM1	.	nonframeshift deletion	OPRM1:NM_001008505:exon4:c.1319_1336del:p.G441_S446del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.969e-05	0	0	0	0	7.493e-05	0	6.058e-05	7.68e-05	2	26028	rs746389905	4.515e-05	4.515e-05	4.628e-05	4.4e-05	0.0009	3.641e-05	3.321e-05	0.0003	0.0002	2.987e-05	0	0	0	0	0.0009	5.036e-05	1.656e-05	3.478e-05	3.945e-05	3.94e-05	3.855e-05	4.039e-05	0.0002	1.716e-05	1.13e-05	1.171e-05	6.25e-06	2.416e-05	0	0	0	0	0	0.0032	4.409e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2906.39	160	chr6	154093423	.	GGTGGAGCATTTCTCCTGA	G	2906.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.704;DP=1661;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=1.64;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,75:146:99:0|1:154093423_GGTGGAGCATTTCTCCTGA_G:2918,0,2712:154093423	9	0	1	0
chr6	154093428	154093428	A	0	exonic	OPRM1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	58882.6	160	chr6	154093428	.	A	*	58882.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.184;DP=1689;ExcessHet=0.2348;FS=0.896;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=27.18;ReadPosRankSum=1.75;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,75:143:99:1|0:154093423_GGTGGAGCATTTCTCCTGA_G:5873,2766,2672:154093423	9	0	1	0
chr6	154093438	154093438	C	0	exonic	OPRM1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	55324.6	142	chr6	154093438	.	C	*	55324.6	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=1521;ExcessHet=0.2348;FS=0.926;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.51;ReadPosRankSum=0.493;SOR=0.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,75:138:99:1|0:154093423_GGTGGAGCATTTCTCCTGA_G:5754,2628,2420:154093423	9	0	1	0
chr6	167976259	167976342	CAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	-	exonic	HGC6.3	.	nonframeshift deletion	HGC6.3:NM_001129895:exon1:c.311_394del:p.V104_T131del	.	452	926	15	0	129	144	0.00803428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0028	0.0077	0	0	0.0053	0	0.0037	.	.	.	.	0.0001	0.0003	0.0001	0.0001	0.0030	9.78e-05	9.099e-05	0.0017	0.0013	0.0002	0	0	0.0003	0.0002	0.0030	0.0001	0.0001	8.545e-05	0.0002	0.0008	0.0002	0.0003	0.0009	0.0002	0.0002	0.0003	0.0001	2.975e-05	0	0.0003	0.0010	0.0003	0.0003	0.0050	0.0003	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	730.04	69	chr6	167976258	.	GCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGGAGGAGGAGGCAGTGGGGGTCATTCCCCCTGCAGTGTGTGGGGAGGAGAAGA	G	730.04	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.41;DP=688;ExcessHet=0.2065;FS=6.271;InbreedingCoeff=0.2;MLEAC=1;MLEAF=0.05;MQ=56.81;MQRankSum=-5.977;QD=2.19;ReadPosRankSum=-0.411;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,26:118:99:.:.:741,0,3545:.	9	0	1	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	1353.59	68	chr6	167976271	.	T	*	1353.59	.	AC=5;AF=0.313;AN=16;BaseQRankSum=2.93;DP=667;ExcessHet=0.7957;FS=1.88;InbreedingCoeff=-0.0311;MLEAC=6;MLEAF=0.375;MQ=55.16;MQRankSum=-4.962;QD=3.35;ReadPosRankSum=-2.838;SOR=0.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,26:118:99:.:.:741,0,3545:.	4	1	3	2
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	3211.87	73	chr6	167976273	.	A	*	3211.87	.	AC=5;AF=0.313;AN=16;DP=670;ExcessHet=0.218;FS=2.453;InbreedingCoeff=0.2593;MLEAC=6;MLEAF=0.375;MQ=55.05;QD=7.93;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,26:118:99:.:.:741,0,3545:.	4	1	3	2
chr6	167976313	167976313	T	0	exonic	HGC6.3	.	.	.	.	462	1045	14	0	1	15	0.00665399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	39.32	55	chr6	167976313	.	T	*	39.32	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.77;DP=613;ExcessHet=0.2633;FS=0.561;InbreedingCoeff=0.085;MLEAC=1;MLEAF=0.056;MQ=55.52;MQRankSum=-5.63;QD=0.19;ReadPosRankSum=0.497;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,26:118:99:.:.:741,0,3545:.	8	0	1	1
chr6	167976329	167976329	T	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	4030.24	57	chr6	167976329	.	T	*	4030.24	.	AC=2;AF=0.111;AN=18;BaseQRankSum=3.05;DP=641;ExcessHet=0.1398;FS=6.405;InbreedingCoeff=0.3056;MLEAC=2;MLEAF=0.111;MQ=54.23;MQRankSum=-5.5;QD=11.51;ReadPosRankSum=0.615;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,26:118:99:.:.:741,0,3545:.	7	0	2	1
chr6	168652992	168652992	G	A	exonic	SMOC2	.	nonsynonymous SNV	SMOC2:NM_001166412:exon11:c.G1049A:p.R350Q,SMOC2:NM_022138:exon11:c.G1082A:p.R361Q	Dentin dysplasia, type I, with microdontia and misshapen teeth, Autosomal recessive	1	1514	6	1	0	8	0.00263505	.	.	.	3915177	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.392	0.00623520625832	.	0.000399361	4.121e-05	9.625e-05	0	0.0002	0	1.5e-05	0	6.057e-05	4.53e-05	7	154602	rs560471120	1.573e-05	1.573e-05	1.361e-05	1.788e-05	0.0002	1.048e-05	8.75e-06	9.24e-06	5.03e-06	2.987e-05	4.472e-05	0	2.519e-05	0	0.0002	1.169e-05	3.312e-05	3.478e-05	3.286e-05	3.281e-05	3.857e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	1.916e-05	1.031e-05	7.226e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.021	0.49117	D	0.078	0.42614	T	0.99	0.90584	D	0.913	0.88582	D	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	1.59	0.40313	L	1.22	0.37052	T	-3.03	0.62747	D	0.864	0.90704	-0.8630	0.51046	T	0.148	0.47416	T	10	0.7356166	0.74598	D	0.006235	0.16347	T	0.392	0.70764	0.556	0.67409	0.647389606501	0.64446	0.6102758137145897	0.60959	0.608645133692	0.55632	0.830171823502	0.86588	D	0.222487	0.58635	T	0.055945	0.59103	T	0.107013	0.77376	D	0.465917706489563	0.31382	T	0.977402	0.93000	D	0.40818995	0.61295	0.2829757	0.54288	0.40818995	0.61296	0.2829757	0.54287	-9.938	0.73540	D	.	.	0.638	0.70434	P	.;.	.;.	4.916742	0.80938	27.4	0.99943119907166722	0.99848	0.99173	0.92306	D	AEFDBI	0.910801	0.86921	D	0.611107721126099	0.73876	6.038306	0.54043891997864	0.70736	5.549039	0.999999993066018	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.53	4.53	0.55009	9.186000	0.94032	11.182000	0.88348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.153000	0.20410	0.0:0.0:1.0:0.0	16.631	0.84889	994	0.00715	SPARC/Testican, calcium-binding domain|EF-hand domain|SMOC-2, extracellular calcium-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1348.43	33	chr6	168652992	.	G	A	1348.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.956;DP=398;ExcessHet=0;FS=0.801;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.66;ReadPosRankSum=3.41;SOR=0.588	GT:AD:DP:GQ:PL	0/1:36,56:92:99:1360,0,798	9	0	1	0
chr7	843397	843397	G	A	exonic	SUN1	.	nonsynonymous SNV	SUN1:NM_001130965:exon5:c.G535A:p.A179T,SUN1:NM_001367636:exon5:c.G385A:p.A129T,SUN1:NM_001367644:exon5:c.G385A:p.A129T,SUN1:NM_001367645:exon5:c.G385A:p.A129T,SUN1:NM_001367646:exon5:c.G385A:p.A129T,SUN1:NM_001367647:exon5:c.G385A:p.A129T,SUN1:NM_001367648:exon5:c.G385A:p.A129T,SUN1:NM_001367649:exon5:c.G385A:p.A129T,SUN1:NM_001367655:exon5:c.G385A:p.A129T,SUN1:NM_001367660:exon5:c.G385A:p.A129T,SUN1:NM_001367662:exon5:c.G385A:p.A129T,SUN1:NM_001367666:exon5:c.G385A:p.A129T,SUN1:NM_001367667:exon5:c.G385A:p.A129T,SUN1:NM_001367668:exon5:c.G385A:p.A129T,SUN1:NM_001367670:exon5:c.G385A:p.A129T,SUN1:NM_001367671:exon5:c.G385A:p.A129T,SUN1:NM_001367673:exon5:c.G385A:p.A129T,SUN1:NM_001367679:exon5:c.G385A:p.A129T,SUN1:NM_001367680:exon5:c.G385A:p.A129T,SUN1:NM_001367681:exon5:c.G385A:p.A129T,SUN1:NM_001367684:exon5:c.G385A:p.A129T,SUN1:NM_001367686:exon5:c.G385A:p.A129T,SUN1:NM_001367689:exon5:c.G385A:p.A129T,SUN1:NM_001367691:exon5:c.G385A:p.A129T,SUN1:NM_001367695:exon5:c.G346A:p.A116T,SUN1:NM_001367701:exon5:c.G385A:p.A129T,SUN1:NM_001367706:exon5:c.G385A:p.A129T,SUN1:NM_025154:exon5:c.G385A:p.A129T,SUN1:NM_001171946:exon6:c.G535A:p.A179T,SUN1:NM_001367633:exon6:c.G535A:p.A179T,SUN1:NM_001367638:exon6:c.G535A:p.A179T,SUN1:NM_001367640:exon6:c.G535A:p.A179T,SUN1:NM_001367641:exon6:c.G535A:p.A179T,SUN1:NM_001367642:exon6:c.G535A:p.A179T,SUN1:NM_001367643:exon6:c.G535A:p.A179T,SUN1:NM_001367651:exon6:c.G754A:p.A252T,SUN1:NM_001367653:exon6:c.G535A:p.A179T,SUN1:NM_001367664:exon6:c.G535A:p.A179T,SUN1:NM_001367665:exon6:c.G535A:p.A179T,SUN1:NM_001367669:exon6:c.G562A:p.A188T,SUN1:NM_001367672:exon6:c.G535A:p.A179T,SUN1:NM_001367674:exon6:c.G535A:p.A179T,SUN1:NM_001367675:exon6:c.G535A:p.A179T,SUN1:NM_001367676:exon6:c.G535A:p.A179T,SUN1:NM_001367677:exon6:c.G535A:p.A179T,SUN1:NM_001367678:exon6:c.G535A:p.A179T,SUN1:NM_001367682:exon6:c.G535A:p.A179T,SUN1:NM_001367683:exon6:c.G535A:p.A179T,SUN1:NM_001367685:exon6:c.G535A:p.A179T,SUN1:NM_001367687:exon6:c.G535A:p.A179T,SUN1:NM_001367688:exon6:c.G535A:p.A179T,SUN1:NM_001367690:exon6:c.G535A:p.A179T,SUN1:NM_001367692:exon6:c.G535A:p.A179T,SUN1:NM_001367693:exon6:c.G535A:p.A179T,SUN1:NM_001367694:exon6:c.G535A:p.A179T,SUN1:NM_001367696:exon6:c.G535A:p.A179T,SUN1:NM_001367697:exon6:c.G535A:p.A179T,SUN1:NM_001367698:exon6:c.G535A:p.A179T,SUN1:NM_001367699:exon6:c.G535A:p.A179T,SUN1:NM_001367700:exon6:c.G535A:p.A179T,SUN1:NM_001367702:exon6:c.G535A:p.A179T,SUN1:NM_001367703:exon6:c.G535A:p.A179T,SUN1:NM_001367704:exon6:c.G535A:p.A179T,SUN1:NM_001367705:exon6:c.G535A:p.A179T,SUN1:NM_001171945:exon7:c.G598A:p.A200T,SUN1:NM_001367634:exon7:c.G535A:p.A179T	.	.	.	.	.	.	.	.	.	.	.	564423	Emery-Dreifuss_muscular_dystrophy|not_specified	MONDO:MONDO:0016830,MedGen:C0410189,OMIM:PS310300,Orphanet:261|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.185	0.00779832122394	0.0003	.	0.0002	0.0001	8.7e-05	0.0002	0	0.0002	0	0	0.0001358	21	154602	rs200430189	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	2.988e-05	8.966e-05	0	0.0003	0	0	0.0004	0.0003	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0002	0.0001	9.619e-05	0	0	0	0.0006	0	0	0.0003	0.0005	0	0.949	0.03555	T	0.424	0.13953	T	0.231	0.30614	B	0.016	0.17743	B	0.044227	0.01930	N	2.539770	1	0.08975	N	0.345	0.11182	N	0.88	0.46028	T	-0.9	0.24244	N	0.06	0.07811	-1.0179	0.24398	T	0.036	0.15509	T	10	0.049177527	0.04470	T	0.007798	0.20694	T	0.185	0.45933	.	.	0.41960043425	0.41580	0.07148267192110586	0.07085	0.0977788735348	0.11029	0.207494229078	0.00710	T	0.003365	0.02809	T	-0.495679	0.00605	T	-0.604847	0.12406	T	0.0148494069140354	0.00314	T	0.594241	0.21993	T	.	.	.	.	.	.	.	.	-3.968	0.23323	T	.	.	0.072	0.08176	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.486699	0.01909	0.159	0.95866221888265046	0.28033	0.02155	0.06334	N	AEFDBI	0.037644	0.05207	N	-1.42474592065724	0.02423	0.1069684	-1.56124812319271	0.01899	0.08663016	0.999994354915697	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.4	-8.8	0.00705	-1.211000	0.03106	-1.669000	0.04949	-0.167000	0.11441	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3838:0.1856:0.2464:0.1842	0.745	0.00918	900	0.24599	.;.;SUN domain-containing protein 1, N-terminal;.;.;.;SUN domain-containing protein 1, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	1350.43	37	chr7	843397	.	G	A	1350.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=488;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=0.449;SOR=0.67	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1362,0,1354	9	0	1	0
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	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	0.031219	0.000000	0.013587	0.049708	0.050000	0.025862	0.051829	0.045455	0.1	1624.14	35	chr7	1440649	.	C	T	1624.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.45;DP=508;ExcessHet=0.2348;FS=1.163;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=2.1;SOR=0.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,29:89:99:1|0:1440644_C_T:672,0,2372:1440644	8	0	2	0
chr7	5316000	5316000	G	A	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon25:c.C6818T:p.P2273L	.	424	1095	3	0	0	3	0.00136799	.	.	.	722575	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.402	0.0599374742619	0.0014	0.000399361	0.0013	0.0004	0.0005	0	0.0003	0.0020	0	0.0004	0.0012807	198	154602	rs199588962	0.0017	0.0017	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0003	0.0009	0.0015	2.601e-05	0.0004	0.0016	0.0021	0.0015	0.0001	0.0011	0.0011	0.0013	0.0010	0.0019	0.0010	0.0009	0.0016	0.0015	0.0004	0.0033	0.0007	0.0006	0	0.0003	0	0.0019	0.0033	0.0002	0.004	0.65419	D	0.027	0.55759	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.999999	0.58761	D	2.28	0.64929	M	1.01	0.41058	T	-3.74	0.71882	D	0.779	0.83066	-0.6896	0.60926	T	0.225	0.58907	T	9	0.07146415	0.10539	T	0.059937	0.67832	D	0.402	0.71558	.	.	0.161926535498	0.15789	0.8899608552836966	0.88966	1.20088527153	0.80543	0.836810827255	0.87608	D	0.074359	0.34920	T	-0.21704	0.18398	T	-0.0822043	0.64743	T	0.0539209452312393	0.06176	T	0.884012	0.65253	D	0.2312289	0.45891	0.23240471	0.48400	0.2312289	0.45892	0.23240471	0.48399	-11.142	0.80431	D	.	.	0.949	0.86751	P	.;.	.;.	4.380093	0.67514	25.1	0.99861956355781112	0.94002	0.98312	0.81520	D	AEFDGBI	0.887818	0.82038	D	0.677035733733018	0.78128	6.809489	0.639610969426782	0.77841	6.75732	0.999998865291197	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.576033	0.28219	0	0.714379	0.83352	0	.	.	4.46	4.46	0.53567	9.450000	0.96770	11.653000	0.93904	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	16.693	0.85186	946	0.12043	.;.	.	.	.	.	.	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	0.004075	0.021429	0.001366	0.000000	0.000000	0.000000	0.003731	0.000000	0.05	1007.43	34	chr7	5316000	.	G	A	1007.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.587;DP=412;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=0.957;SOR=0.619	GT:AD:DP:GQ:PL	0/1:49,47:96:99:1019,0,1029	9	0	1	0
chr7	7969360	7969360	-	CCT	exonic	GLCCI1	.	nonframeshift insertion	GLCCI1:NM_138426:exon1:c.10_11insCCT:p.S13_Q14insS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0020	0.00259585	0.0009	0.0025	0	0	0.0005	0.0002	0	0.0036	0.0005433	84	154602	rs528042199	0.0004	0.0008	0.0004	0.0004	0.0050	0.0004	0.0004	0.0043	0.0041	0.0050	8.876e-05	0	9.953e-05	9.249e-05	0	0.0002	0.0005	0.0025	0.0014	0.0014	0.0016	0.0013	0.0044	0.0013	0.0012	0.0038	0.0036	0.0043	0	0.0002	0	0	9.823e-05	0	0.0001	0.0005	0.0044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	33.39	30	chr7	7969360	.	G	GCCT	33.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0;DP=251;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.23;ReadPosRankSum=-0.765;SOR=0.569	GT:AD:DP:GQ:PL	0/1:13,2:15:45:45,0,520	9	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	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	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.15	4567.45	134	chr7	12380643	.	G	C	4567.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.117;DP=621;ExcessHet=0.7463;FS=0.832;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=0.312;SOR=0.628	GT:AD:DP:GQ:PL	0/1:36,48:84:99:1226,0,852	7	0	3	0
chr7	24679250	24679250	G	C	exonic	MPP6	.	nonsynonymous SNV	MPP6:NM_001303037:exon10:c.G1234C:p.G412R,MPP6:NM_016447:exon11:c.G1234C:p.G412R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.0886706389413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.028	0.55759	D	0.999	0.77913	D	0.993	0.81110	D	0.000068	0.52346	D	0.000000	1	0.81001	D	3.825	0.95591	H	1.91	0.23283	T	-5.24	0.88767	D	0.856	0.85238	-0.4146	0.71563	T	0.264	0.63501	T	10	0.9472613	0.94054	D	0.088671	0.75178	D	0.565	0.82232	0.888	0.97226	0.587908032676	0.58465	0.920303388007737	0.92006	1.64548930497	0.89442	0.907022356987	0.97181	D	0.169855	0.51739	T	0.248509	0.78461	D	0.119189	0.78181	D	0.998522460460663	0.94393	D	0.987151	0.95601	D	0.8591695	0.88022	0.84184295	0.90960	0.8591695	0.88023	0.84184295	0.90961	-9.597	0.71461	D	.	.	0.845	0.79479	P	.;.;.	.;.;.	5.444100	0.90971	32	0.99944870263808461	0.99886	0.99312	0.94338	D	AEFBI	0.914214	0.87727	D	1.09138995377365	0.97971	17.14312	1.04387370962903	0.99310	21.83092	0.999999999999811	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.97	5.97	0.96935	10.003000	0.99689	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.428	0.99077	615	0.66512	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	86.43	81	chr7	24679250	.	G	C	86.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.763;DP=626;ExcessHet=0;FS=86.686;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.82;ReadPosRankSum=1.75;SOR=5.889	GT:AD:DP:GQ:PL	0/1:94,12:112:98:98,0,2656	9	0	1	0
chr7	26152944	26152944	C	T	exonic	NFE2L3	.	nonsynonymous SNV	NFE2L3:NM_004289:exon1:c.C446T:p.A149V	.	411	1104	7	0	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	0.000998403	0.0041	0	0.0208	0	.	0.0087	0	0.0029	0.0006662	103	154602	rs200699467	0.0064	0.0059	0.0065	0.0063	0.0073	0.0063	0.0062	0.0071	0.0071	0.0012	0.0049	0.0051	0	0.0006	0.0053	0.0073	0.0054	0.0024	0.0039	0.0040	0.0044	0.0035	0.0065	0.0037	0.0036	0.0060	0.0058	0.0017	0.0077	0.0031	0.0049	0.0002	0.0002	0.0034	0.0065	0.0038	0.0014	0.051	0.39334	T	0.021	0.58089	D	0.608	0.39540	P	0.306	0.41250	B	0.561020	0.11336	N	0.794258	1	0.08975	N	2.015	0.55033	M	2.23	0.18083	T	-1.55	0.37566	N	0.064	0.03613	-1.0556	0.12882	T	0.044	0.18906	T	10	0.004148364	0.00082	T	.	.	.	0.031	0.07369	.	.	0.298403945805	0.29456	0.17218008392784495	0.17138	1.79946624974	0.91631	0.801559329033	0.82201	T	0.065212	0.32632	T	-0.563246	0.00243	T	-0.577275	0.14789	T	0.0340217854875971	0.02641	T	0.452755	0.12846	T	0.035513688	0.04193	0.05589209	0.09889	0.035513688	0.04193	0.05589209	0.09889	-4.758	0.34098	T	.	.	0.097	0.15743	B	.	.	2.655587	0.34589	19.67	0.99622406544648956	0.75533	0.39657	0.26262	N	AEFBHCI	0.052224	0.09301	N	-0.323381573486189	0.28262	1.557411	-0.370738187714241	0.25873	1.425612	0.999998999096297	0.74766	0.733237	0.96898	0	0.56911	0.20461	1	0.600757	0.32118	0	0.375	0.06713	1	.	.	4.67	2.79	0.31792	0.020000	0.13359	0.932000	0.22787	0.463000	0.21641	0.004000	0.16614	0.467000	0.25033	0.079000	0.17189	0.3824:0.6176:0.0:0.0	9.566	0.38561	834	0.38640	.	.	.	.	.	.	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	0.006803	0.014493	0.002415	0.000000	0.000000	0.000000	0.005208	0.000000	0.05	223.43	34	chr7	26152944	.	C	T	223.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.879;DP=289;ExcessHet=0;FS=1.619;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.98;ReadPosRankSum=-0.895;SOR=1.302	GT:AD:DP:GQ:PL	0/1:17,11:28:99:235,0,346	9	0	1	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	37203.1	176	chr7	27095695	.	C	*	37203.1	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.18;DP=1416;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.64;ReadPosRankSum=-2.133;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,55:119:99:1|0:27095694_GCGA_G:5096,1993,2476:27095694	9	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0106320113374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.13045	T	0.317	0.19304	T	0.013	0.16609	B	0.006	0.12133	B	0.032718	0.24992	N	0.277746	0.998147	0.22327	N	2.075	0.57047	M	-0.19	0.65931	T	0.48	0.03041	N	0.064	0.03613	-1.0419	0.16741	T	0.109	0.39392	T	10	0.115400106	0.21741	T	0.010632	0.27388	T	0.074	0.21613	0.163	0.06730	0.613747831775	0.61063	0.2658683285844839	0.26499	0.239766953823	0.26521	0.495270937681	0.38170	T	0.009004	0.08229	T	-0.0823907	0.39325	T	-0.356125	0.38501	T	0.750056266784668	0.43288	D	.	.	.	0.12240565	0.28764	0.066225044	0.13534	0.12240565	0.28764	0.066225044	0.13534	-5.001	0.36851	T	.	.	0.181	0.39305	B	.	.	3.389122	0.46917	22.4	0.9659045393350808	0.30369	0.93177	0.57526	D	AEFGBCI	0.709470	0.66354	D	-0.372321133435478	0.26460	1.444228	-0.16957771568949	0.32663	1.86049	0.99999999377476	0.74766	0.732398	0.92422	0	0.698795	0.70079	0	0.743671	0.96076	0	0.723	0.93126	0	.	.	4.61	3.72	0.41857	6.248000	0.72374	4.362000	0.43121	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.9177:0.0:0.0823	12.521	0.55405	774	0.48577	.	.	.	.	.	.	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	376.29	108	chr7	43624718	.	C	G	376.29	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-3.305;DP=964;ExcessHet=4.5998;FS=280.433;InbreedingCoeff=-0.4254;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=1.14;SOR=10.021	GT:AD:DP:GQ:PL	0/1:54,25:88:26:26,0,781	4	0	6	0
chr7	47821092	47821092	G	A	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon46:c.C6949T:p.R2317W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	419	1088	14	1	0	16	0.00729927	.	.	.	722548	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0350360262237	0.0015	0.00199681	0.0018	0.0010	0.0004	0.0003	0.0003	0.0025	0.0089	0.0012	0.0019081	295	154602	rs139293796	0.0020	0.0021	0.0021	0.0020	0.0112	0.0020	0.0020	0.0090	0.0082	0.0009	0.0013	0.0055	2.526e-05	0.0003	0.0112	0.0022	0.0020	0.0012	0.0018	0.0018	0.0019	0.0017	0.0025	0.0016	0.0015	0.0022	0.0021	0.0007	0	0.0015	0.0075	0.0002	0.0003	0.0034	0.0025	0.0028	0.0015	0.003	0.68238	D	0.001	0.83351	D	1.0	0.90584	D	0.986	0.76916	D	0.006778	0.31811	N	0.175773	1	0.08975	N	2.36	0.67893	M	1.94	0.22678	T	-5.19	0.83625	D	0.545	0.57177	-0.9950	0.31299	T	0.087	0.33634	T	10	0.012393147	0.00266	T	0.035036	0.56079	D	0.107	0.30369	.	.	0.745099471361	0.74281	0.5345255532974426	0.53377	0.497463811139	0.48245	0.279146969318	0.07374	T	0.529557	0.83695	D	-0.437267	0.01342	T	-0.399927	0.33392	T	0.0478573780622542	0.05117	T	0.713829	0.32570	T	0.23060572	0.45819	0.37620524	0.62748	0.23060572	0.45819	0.37620524	0.62747	-7.096	0.54732	T	0.7257097379071875	0.80711	0.163	0.36012	B	.	.	3.704734	0.52853	23.3	0.99729252329224871	0.82619	0.03367	0.08463	N	AEFI	0.069132	0.13670	N	-0.0249142248569835	0.40730	2.423826	-0.219562588434269	0.30835	1.739628	0.754834003598971	0.23417	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.27	1.05	0.19280	0.395000	0.20576	0.923000	0.22720	0.671000	0.69459	0.043000	0.21118	0.546000	0.25442	0.995000	0.73285	0.0:0.0:0.3124:0.6876	13.827	0.62852	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.014099	0.010101	0.027174	0.017544	0.000000	0.000000	0.009146	0.003788	0.05	861.43	34	chr7	47821092	.	G	A	861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.664;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=2.04;SOR=0.627	GT:AD:DP:GQ:PL	0/1:32,39:71:99:873,0,690	9	0	1	0
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V,UPP1:NM_001287426:exon7:c.A334G:p.I112V,UPP1:NM_001362774:exon7:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.0162703173878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.068e-05	0.0005	4.533e-05	3.607e-05	6.545e-05	3.187e-05	2.855e-05	3.432e-05	3.064e-05	6.545e-05	0	0	0	0	0	4.503e-05	0.0001	1.194e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06669	T	0.844	0.03652	T	0.005	0.12996	B	0.013	0.16460	B	0.006375	0.32080	N	0.369553	0.659061	0.48481	D	0.65	0.16133	N	-2.14	0.86415	D	-0.25	0.11008	N	0.335	0.37613	-0.8153	0.54226	T	0.370	0.72932	T	10	0.17066589	0.31743	T	0.01627	0.37444	T	0.137	0.36984	0.393	0.41770	0.494366844524	0.49069	0.6359250264121555	0.63526	0.119767800777	0.13491	0.439313769341	0.30483	T	0.150536	0.55493	T	-0.0746563	0.40579	T	-0.345015	0.39777	T	0.0481831632055793	0.05176	T	0.90391	0.67021	D	0.036912184	0.04632	0.047135282	0.06722	0.036912184	0.04631	0.047135282	0.06722	-7.212	0.55568	T	.	.	0.115	0.22933	B	.;.;.;.	.;.;.;.	1.228969	0.16235	12.41	0.69032023839716439	0.08843	0.30303	0.24048	N	AEFDGBCI	0.037360	0.05126	N	-1.18467389851375	0.05232	0.2380039	-1.17438792066289	0.06340	0.3048925	0.99999892264264	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.43	-4.68	0.03070	1.426000	0.34478	0.250000	0.16416	-0.576000	0.04747	0.702000	0.28645	0.000000	0.08366	0.986000	0.61781	0.426:0.0:0.574:0.0	14.599	0.68020	804	0.43891	Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site;Nucleoside phosphorylase domain|Nucleoside phosphorylase, conserved site	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	167.71	61	chr7	48103309	.	A	G	167.71	.	AC=2;AF=0.125;AN=16;BaseQRankSum=-3.007;DP=721;ExcessHet=0.2348;FS=139.147;InbreedingCoeff=-0.1766;MLEAC=2;MLEAF=0.125;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=-0.014;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,26:136:99:0|1:48103308_C_T:157,0,3472:48103308	6	0	2	2
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4375	1877.94	33	chr7	50368104	.	C	G	1877.94	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-4.104;DP=1523;ExcessHet=7.0302;FS=219.639;InbreedingCoeff=-0.6579;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=2.04;SOR=11.783	GT:AD:DP:GQ:PL	0/1:140,57:202:99:346,0,2209	1	0	7	2
chr7	56116202	56116202	C	A	exonic	NUPR2	.	nonsynonymous SNV	NUPR2:NM_001145712:exon1:c.G113T:p.R38L	.	438	1081	3	0	0	3	0.00138568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0077	0.00119808	0.0044	0.0023	0	0	0	0.0091	0.0064	0.0017	0.0016753	259	154602	rs190448728	0.0082	0.0078	0.0084	0.0079	0.0098	0.0080	0.0080	0.0097	0.0096	0.0017	0.0021	0.0018	2.815e-05	0.0039	0.0021	0.0098	0.0051	0.0014	0.0048	0.0048	0.0054	0.0042	0.0090	0.0045	0.0044	0.0084	0.0081	0.0013	0	0.0023	0.0026	0	0.0014	0	0.0090	0.0038	0.0010	0.343	0.12592	T	0.545	0.09588	T	1.0	0.90584	D	0.96	0.70309	D	.	.	.	.	0.623578	0.32727	D	.	.	.	.	.	.	-2.82	0.59545	D	0.467	0.50327	.	.	.	.	.	.	.	0.009500712	0.00214	T	.	.	.	.	.	.	.	0.60087810649	0.59769	0.1956522200160719	0.19482	.	.	0.907131195068	0.97192	D	0.114603	0.43254	T	-0.219574	0.18050	T	-0.0787847	0.64994	T	.	.	.	0.576842	0.20728	T	0.17326596	0.38065	0.26726955	0.52582	0.17326596	0.38065	0.26726955	0.52581	-3.201	0.12493	T	.	.	0.404	0.59793	A	.	.	3.137486	0.42422	21.5	0.95203177310114451	0.26401	0.83451	0.42567	D	AEFDBI	0.197129	0.32407	N	.	.	.	.	.	.	0.999643754257214	0.41316	0.517182	0.21443	0	0.573888	0.26702	0	0.478664	0.07449	1	0.530356	0.10902	0	.	.	3.43	3.43	0.38372	1.400000	0.34186	.	.	0.385000	0.20450	0.998000	0.41325	0.984000	0.30665	0.979000	0.57723	0.0:1.0:0.0:0.0	10.528	0.44148	625	0.65529	.	.	.	.	.	rs190448728	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	.	.	.	.	.	.	.	.	0.05	928.43	35	chr7	56116202	.	C	A	928.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.537;DP=402;ExcessHet=0;FS=1.827;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-1.193;SOR=1.002	GT:AD:DP:GQ:PL	0/1:40,42:82:99:940,0,824	9	0	1	0
chr7	75441459	75441459	G	A	exonic	POM121C	.	nonsynonymous SNV	POM121C:NM_001099415:exon4:c.C38T:p.P13L	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.361	0.0613418410371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.473e-06	5.472e-06	5.446e-06	5.501e-06	2.988e-05	2.35e-06	1.7e-06	2.62e-06	1.68e-06	2.988e-05	0	0	0	0	0	6.296e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.114	0.74150	T	0.98	0.59353	D	0.939	0.67449	D	0.019975	0.27141	N	0.177374	0.999918	0.51308	D	1.85	0.49092	L	.	.	.	-8.11	0.96693	D	0.769	0.82559	0.020	0.82651	D	0.542	0.83113	D	10	0.7371663	0.74701	D	0.061342	0.68300	D	0.361	0.68141	0.482	0.56302	0.468003879618	0.46428	0.4981504123612331	0.49736	.	.	0.591971635818	0.51773	T	0.090447	0.38587	T	0.233931	0.77089	D	0.0982495	0.76792	D	0.996672868728638	0.89839	D	0.835416	0.50550	T	0.078865536	0.17985	0.120910525	0.29177	0.078865536	0.17985	0.120910525	0.29176	-3.437	0.20849	T	.	.	0.433	0.68896	A	.;.;.	.;.;.	4.060755	0.60260	24.2	0.9701718784386113	0.32010	0.98540	0.83876	D	AEFBI	0.524286	0.54754	D	0.192097727843159	0.50818	3.268425	0.0624929397190166	0.42678	2.585729	0.999963251887011	0.48965	0.722319	0.85440	0	0.698795	0.70079	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	4.05	3.16	0.35406	6.883000	0.75397	11.839000	0.97761	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.623000	0.31974	0.1064:0.0:0.8936:0.0	9.076	0.35681	912	0.21483	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2805.43	38	chr7	75441459	.	G	A	2805.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.796;DP=600;ExcessHet=0;FS=0.981;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=55.92;MQRankSum=-1.227;QD=11.04;ReadPosRankSum=0.85;SOR=0.62	GT:AD:DP:GQ:PL	0/1:135,119:254:99:2817,0,3489	9	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A,SAMD9:NM_017654:exon3:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00364362051594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.739e-06	0.0001	2.726e-06	2.753e-06	2.701e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	3.828e-05	0	0	0	2.701e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.358	0.11994	T	0.365	0.16717	T	0.278	0.32022	B	0.057	0.26280	B	0.038933	0.24228	N	0.350345	0.999403	0.21245	N	1.395	0.35261	L	1.98	0.21865	T	-0.26	0.11185	N	0.172	0.18376	-1.0035	0.28903	T	0.025	0.10866	T	10	0.101587355	0.18570	T	0.003644	0.08371	T	0.019	0.03383	0.111	0.02112	0.462721901306	0.45895	0.30406387633743254	0.30319	0.206316586236	0.23055	0.261323869228	0.05050	T	0.005306	0.11036	T	-0.27156	0.11583	T	-0.627853	0.10578	T	0.260672181844711	0.23344	T	0.427357	0.11519	T	0.026715023	0.01764	0.03884978	0.03847	0.026715023	0.01763	0.03884978	0.03846	-5.641	0.43165	T	0.1164478318514886	0.10529	0.110	0.22135	B	.;.;.	.;.;.	1.711545	0.21796	15.35	0.15711081566189278	0.00394	0.77281	0.37980	D	AEFBI	0.241180	0.36284	N	-0.496248800179662	0.22203	1.183913	-0.415350861612596	0.24546	1.344766	0.0736999754895762	0.15642	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	0.721	0.17373	1.167000	0.31456	-0.698000	0.07808	-0.200000	0.08971	0.996000	0.39380	0.000000	0.08366	0.044000	0.14658	0.0:0.4337:0.0:0.5663	8.086	0.29933	806	0.43582	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	764.96	190	chr7	93102964	.	C	G	764.96	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-6.623;DP=1746;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.6656;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.58;ReadPosRankSum=-0.095;SOR=11.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,15:159:53:.:.:53,0,4549:.	2	0	8	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	1530.03	190	chr7	93102965	.	C	G	1530.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-5.233;DP=1910;ExcessHet=22.563;FS=128.174;InbreedingCoeff=-0.9987;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.483;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,29:159:99:.:.:177,0,4531:.	0	0	10	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	6711.04	102	chr7	100175805	.	G	C	6711.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.794;DP=1021;ExcessHet=22.563;FS=312.371;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.74;ReadPosRankSum=1.2;SOR=11.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,31:80:99:0|1:100175805_G_C:609,0,1662:100175805	0	0	10	0
chr7	100553435	100553435	C	G	exonic	AGFG2	.	nonsynonymous SNV	AGFG2:NM_006076:exon4:c.C520G:p.P174A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.016091638665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.789e-06	4.788e-06	6.806e-06	2.75e-06	0.0003	1.99e-06	1.28e-06	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.999	0.77913	D	0.994	0.82059	D	0.000075	0.52346	N	0.172193	0.805194	0.81001	D	2.975	0.85398	M	1.65	0.27650	T	-6.02	0.89684	D	0.219	0.24510	-0.8816	0.49634	T	0.163	0.49864	T	10	0.30075783	0.47621	T	0.016092	0.37172	T	0.148	0.39182	.	.	0.495839474393	0.49220	0.5074669165356606	0.50668	0.391350056189	0.40338	0.425648927689	0.28613	T	0.134365	0.46557	T	-0.187997	0.22554	T	-0.507821	0.21539	T	0.985331416130066	0.76359	D	0.918808	0.70803	D	0.21701206	0.44174	0.25080892	0.50679	0.21701206	0.44174	0.25080892	0.50678	-8.795	0.66368	D	.	.	0.069	0.03162	B	.	.	3.215591	0.43793	21.8	0.99484861258174428	0.67124	0.82599	0.41804	D	AEFBHCI	0.151520	0.27602	N	0.440081262901289	0.63642	4.602006	0.355776246646838	0.58855	4.058958	0.999075858364183	0.38370	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.06	3.17	0.35510	2.061000	0.41030	1.353000	0.25823	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.966000	0.53164	0.156:0.6934:0.1505:0.0	9.966	0.40894	689	0.59000	.	.	.	.	.	.	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	2031.14	34	chr7	100553435	.	C	G	2031.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.926;DP=440;ExcessHet=0.2348;FS=0.603;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=-0.317;SOR=0.756	GT:AD:DP:GQ:PL	0/1:35,29:64:99:725,0,867	8	0	2	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	2147.25	93	chr7	100773851	.	A	*	2147.25	.	AC=11;AF=0.55;AN=20;DP=894;ExcessHet=0.0952;FS=0;InbreedingCoeff=0.3407;MLEAC=11;MLEAF=0.55;MQ=60;QD=2.73;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,52:110:99:0|1:100773851_A_G:4614,1562,1295:100773851	2	3	5	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	21426.9	92	chr7	100773854	.	G	*	21426.9	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.684;DP=859;ExcessHet=0.0952;FS=0.694;InbreedingCoeff=0.3407;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=27.37;ReadPosRankSum=-0.848;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,58:110:99:0|1:100773849_CCAT_C:4620,1541,1238:100773849	8	0	2	0
chr7	100884541	100884541	G	C	exonic	SRRT	.	nonsynonymous SNV	SRRT:NM_001128852:exon7:c.G931C:p.D311H,SRRT:NM_001128853:exon7:c.G931C:p.D311H,SRRT:NM_001128854:exon7:c.G931C:p.D311H,SRRT:NM_015908:exon7:c.G931C:p.D311H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0148003281535	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.375e-06	5.815e-05	7.622e-06	3.095e-06	6.925e-06	2.24e-06	1.44e-06	2.88e-06	1.85e-06	0	0	0	0	0	0	6.925e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.49390	T	0.899	0.49514	P	0.548	0.49136	P	0.021263	0.26867	N	0.380247	0.999723	0.53665	D	0.69	0.16971	N	.	.	.	.	.	.	0.29	0.34767	-1.0688	0.09679	T	0.030	0.12717	T	10	0.1586496	0.29828	T	0.015	0.35150	T	.	.	0.174	0.08014	0.082315109003	0.07666	0.2009740913685552	0.20014	.	.	0.571929574013	0.48951	T	0.237057	0.60467	T	-0.12207	0.32786	T	-0.413122	0.31865	T	0.822384238243103	0.47950	D	0.861714	0.57103	D	0.070811324	0.15629	0.09456638	0.22389	0.070811324	0.15628	0.09456638	0.22389	-9.288	0.69601	D	.	.	0.152	0.38462	B	.;.;.;.	.;.;.;.	3.821314	0.55182	23.6	0.99246197506353184	0.56727	0.91410	0.53477	D	AEFBCI	0.619060	0.60464	D	0.0182736835981947	0.42687	2.57665	0.0364267524968206	0.41419	2.488157	0.999999999135195	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	3.91	3.91	0.44383	4.221000	0.58371	11.725000	0.94886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.0:1.0:0.0	11.586	0.50176	692	0.58729	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	47.7	43	chr7	100884541	.	G	C	47.7	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.398;DP=595;ExcessHet=0.2348;FS=209.413;InbreedingCoeff=-0.1356;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=-0.448;SOR=7.903	GT:AD:DP:GQ:PL	0/1:54,16:70:54:54,0,874	7	0	2	1
chr7	100896651	100896651	C	T	exonic	ACHE	.	nonsynonymous SNV	ACHE:NM_001367918:exon1:c.G80A:p.R27K,ACHE:NM_001367919:exon1:c.G80A:p.R27K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1007123437	0	1.59e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.9229	0.45155	T	0.098	0.36677	T	5	0.14427125	0.27380	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.618194	0.20668	14.86	0.95540790439148215	0.27187	0.02639	0.07237	N	AEFDGBHCI	.	.	.	-0.529413351863063	0.21133	1.119334	-0.629408343606763	0.18738	1.002394	0.999999999999827	0.74766	0.11394	0.02926	0	0.067947	0.01809	2	0.125351	0.03401	0	0.109499	0.03221	0	0.364546	0.36610	3.95	-1.64	0.07874	0.040000	0.13791	0.207000	0.15917	-0.325000	0.05822	0.003000	0.16062	0.107000	0.22748	0.984000	0.60418	0.0:0.3103:0.3606:0.3291	4.282	0.10282	713	0.56348	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	34.09	2	chr7	100896651	.	C	T	34.09	.	AC=2;AF=0.111;AN=18;DP=25;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.04;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	1
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6958.44	427	chr7	100953156	.	C	*	6958.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.64;DP=5266;ExcessHet=22.563;FS=8.617;InbreedingCoeff=-1;MLEAC=7;MLEAF=0.35;MQ=57.64;MQRankSum=-15.09;QD=1.34;ReadPosRankSum=1.11;SOR=1.233	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:406,120:571:99:0|1:100953098_G_C:3817,0,16687:100953098	3	0	7	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	1072.04	423	chr7	100953158	.	G	*	1072.04	.	AC=9;AF=0.45;AN=20;BaseQRankSum=3.81;DP=5175;ExcessHet=22.563;FS=12.462;InbreedingCoeff=-1;MLEAC=9;MLEAF=0.45;MQ=57.63;MQRankSum=-15.35;QD=0.21;ReadPosRankSum=1.34;SOR=1.511	GT:AD:DP:GQ:PL	0/1:401,109:553:99:3370,0,16510	1	0	9	0
chr7	101032659	101032659	A	G	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A1243G:p.T415A	.	427	1088	7	0	0	7	0.0032066	.	.	.	2826027	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000956035110075	0.0046	0.00179712	0.0037	0.0012	0.0016	0	0.0011	0.0054	0.0066	0.0024	0.0037128	574	154602	rs145279256	0.0070	0.0068	0.0072	0.0068	0.0083	0.0069	0.0068	0.0081	0.0081	0.0011	0.0029	0.0052	2.692e-05	0.0016	0.0014	0.0083	0.0059	0.0030	0.0043	0.0043	0.0046	0.0039	0.0074	0.0040	0.0039	0.0069	0.0066	0.0014	0.0033	0.0034	0.0035	0	0.0008	0	0.0074	0.0038	0.0015	0.169	0.22920	T	.	.	.	0.191	0.29411	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.395	0.69210	M	4.37	0.02277	T	-0.08	0.08187	N	0.046	0.01825	-0.8978	0.48214	T	0.003	0.01026	T	9	0.0050201714	0.00108	T	9.56E-4	0.00957	T	0.009	0.00846	.	.	0.0138822411134	0.00435	0.004178214482374494	0.00391	.	.	0.207869395614	0.00724	T	0.016724	0.13769	T	-0.716533	0.00029	T	-0.797742	0.01960	T	0.00760748272969029	0.00088	T	0.271373	0.04588	T	0.028834486	0.02283	0.03241514	0.01973	0.028834486	0.02283	0.03241514	0.01973	-6.201	0.47931	T	.	.	0.101	0.17530	B	.	.	-0.201024	0.03086	0.485	0.2842355011326142	0.01459	0.00189	0.01098	N	AEFBI	0.028769	0.02595	N	-1.26590189969864	0.04093	0.1841085	-1.37517767006904	0.03518	0.1642871	2.62622569382389E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	1.22	-0.0841	0.13026	-0.919000	0.04125	-7.147000	0.01220	0.384000	0.20435	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.7905:0.0:0.2094:0.0	4.615	0.11808	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.1	15771.1	33	chr7	101032659	.	A	G	15771.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.82;DP=3207;ExcessHet=0.2348;FS=0.521;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0.993;QD=13.1;ReadPosRankSum=0.917;SOR=0.642	GT:AD:DP:GQ:PL	0/1:346,339:685:99:8731,0,8660	8	0	2	0
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E,ATXN7L1:NM_001318229:exon10:c.C1620G:p.D540E,ATXN7L1:NM_001385596:exon10:c.C2268G:p.D756E,ATXN7L1:NM_020725:exon10:c.C2268G:p.D756E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00424335358371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.12469	T	1.0	0.02548	T	0.005	0.18474	B	0.004	0.16460	B	0.000132	0.49741	D	0.138750	0.519982	0.31889	D	0.26	0.09897	N	1.61	0.28391	T	-0.19	0.09965	N	0.147	0.15046	-1.0469	0.15274	T	0.041	0.17573	T	10	0.10052198	0.18311	T	0.004243	0.10247	T	0.064	0.18567	0.097	0.01334	0.449283877778	0.44552	0.20088776075350473	0.20005	0.385026323921	0.39793	0.676552057266	0.63775	T	7.73E-4	0.01826	T	-0.215272	0.18644	T	-0.547	0.17614	T	0.663197338581085	0.39037	D	0.756224	0.39120	T	0.07353326	0.16438	0.0722084	0.15551	0.07353326	0.16438	0.0722084	0.15551	-4.221	0.27055	T	.	.	0.124	0.55438	B	.;.;.;.	.;.;.;.	2.105740	0.26793	17.24	0.47757704324101108	0.03930	0.83841	0.42935	D	AEFDBCI	0.391753	0.47007	N	-0.273951466123109	0.30158	1.678963	-0.0533374508611656	0.37345	2.185429	0.998690061336663	0.37477	0.67177	0.52595	0	0.588015	0.36545	0	0.702456	0.68683	0	0.491896	0.07777	0	.	.	5.41	4.33	0.51083	2.710000	0.46837	5.043000	0.46929	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.081:0.0:0.7785:0.1405	9.900	0.40514	921	0.19240	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	401.13	131	chr7	105614066	.	G	C	401.13	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.742;DP=1081;ExcessHet=1.5895;FS=151.643;InbreedingCoeff=-0.2631;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.95;ReadPosRankSum=1.66;SOR=9.84	GT:AD:DP:GQ:PL	0/1:83,17:100:62:62,0,1792	6	0	4	0
chr7	107710154	107710154	G	T	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon19:c.G2190T:p.Q730H	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	52712	not_specified|Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided	MedGen:CN169374|MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.464	0.144085767953	0.0009	0.00159744	0.0004	0.0036	0.0006	0	0	0	0.0011	0	0.0003493	54	154602	rs142723249	0.0001	0.0001	0.0001	0.0001	0.0035	9.905e-05	9.313e-05	0.0030	0.0028	0.0035	0.0003	0	0	0	0.0010	5.417e-06	0.0003	2.322e-05	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0025	0.0024	0.0030	0	0.0005	0	0	0	0	4.411e-05	0.0005	0	0.048	0.40068	D	0.152	0.32249	T	0.005	0.12996	B	0.004	0.10090	B	0.001458	0.38980	N	0.216865	0.84646	0.36303	D	0.895	0.22405	L	-3.3	0.93787	D	-2.19	0.49352	N	0.74	0.74007	0.224	0.86309	D	0.631	0.87061	D	10	0.009727389	0.00219	T	0.144086	0.82636	D	0.464	0.76023	0.425	0.47021	0.986051744444	0.98589	0.6701603276162149	0.66954	0.0111280690026	0.01037	0.344690144062	0.17137	T	0.211637	0.57247	T	-0.180018	0.23733	T	-0.0328332	0.68180	D	0.0186963193411336	0.00582	T	0.606339	0.22814	T	0.31677297	0.54366	0.24181624	0.49588	0.2886583	0.51868	0.25025523	0.50612	-7.283	0.56074	T	0.1543552066684281	0.18429	0.179	0.39064	B	.;.	.;.	3.482047	0.48628	22.6	0.99349218209833645	0.60493	0.90734	0.52160	D	AEFGI	0.523134	0.54686	D	0.00745169770468802	0.42193	2.537692	0.195615606134908	0.49605	3.161806	0.992834016252695	0.32986	0.554377	0.28877	0	0.59043	0.45803	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	3.779000	0.55085	9.959000	0.82782	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0737:0.0:0.9263:0.0	13.051	0.58366	756	0.51065	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1284.43	36	chr7	107710154	.	G	T	1284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.484;DP=451;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.604;SOR=0.595	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1296,0,1027	9	0	1	0
chr7	117542062	117542062	C	T	exonic	CFTR	.	nonsynonymous SNV	CFTR:NM_000492:exon9:c.C1163T:p.T388M	Congenital bilateral absence of vas deferens, Autosomal recessive;Cystic fibrosis, Autosomal recessive;Sweat chloride elevation without CF (3)	3	1510	9	0	0	9	0.00297128	.	.	.	487199	CFTR-related_disorder|not_specified|not_provided|Hereditary_pancreatitis|Congenital_bilateral_aplasia_of_vas_deferens_from_CFTR_mutation|Bronchiectasis_with_or_without_elevated_sweat_chloride_1|Cystic_fibrosis	MedGen:C5924204|MedGen:CN169374|MedGen:C3661900|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|MONDO:MONDO:0009061,MedGen:C0010674,OMIM:219700,Orphanet:586	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.601	0.423738431628	7.7e-05	.	0.0001	0	0.0002	0	0	0.0001	0.0011	0.0003	0.00011	17	154602	rs143860237	0.0001	0.0001	8.381e-05	0.0001	0.0023	0.0001	9.575e-05	0.0013	0.0011	0	0.0001	0	0.0001	0	0.0023	8.078e-05	0.0001	0.0005	0.0001	0.0001	0.0001	0.0001	0.0002	7.095e-05	5.75e-05	7.91e-05	5.995e-05	7.238e-05	0	0.0001	0	0.0002	0	0	0.0001	0	0.0002	0.113	0.29158	T	0.116	0.36497	T	0.65	0.40644	P	0.1	0.30674	B	0.000000	0.84330	N	0.092382	0.999692	0.48338	D	1.26	0.31868	L	-3.03	0.92613	D	-1.06	0.27669	N	0.804	0.79986	0.235	0.86503	D	0.603	0.85872	D	10	0.2851867	0.46101	T	0.423738	0.93845	D	0.601	0.84237	.	.	0.992697746924	0.99261	0.7520671217846666	0.75153	0.00540111965589	0.00476	0.415776461363	0.27255	T	0.573689	0.85927	D	0.0795423	0.61987	D	0.186999	0.82398	D	0.0530084223274266	0.06021	T	0.90471	0.66491	D	0.17670465	0.38597	0.16910748	0.38920	0.18912923	0.40441	0.23801953	0.49113	-6.278	0.48548	T	0.5950192153524002	0.66188	0.098	0.30130	B	.;.;.;.;.	.;.;.;.;.	3.990498	0.58732	24.0	0.99025538745849717	0.50677	0.90432	0.51603	D	AEFI	0.674434	0.64016	D	0.161805877816176	0.49372	3.138372	0.26952030121205	0.53768	3.544157	0.504607880583997	0.20970	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.645665	0.59343	0	.	.	5.62	4.73	0.59485	4.064000	0.57221	4.841000	0.45285	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9259:0.0:0.0741	13.971	0.63755	779	0.47767	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	545.43	34	chr7	117542062	.	C	T	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.029;DP=361;ExcessHet=0;FS=2.282;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.926;SOR=0.368	GT:AD:DP:GQ:PL	0/1:28,28:56:99:557,0,645	9	0	1	0
chr7	124032964	124032964	T	A	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A40T:p.R14W	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.329416785124	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256126312	8.495e-07	3.42e-06	0	1.762e-06	3.755e-05	0	0	.	.	0	0	0	3.755e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	.	.	.	0.2	0.04861	N	0.287	0.32481	-1.0245	0.22246	T	0.063	0.26101	T	8	0.1108402	0.20731	T	0.329417	0.91707	D	0.066	0.19193	0.12	0.02719	0.223146558224	0.21909	0.36193820479637967	0.36107	.	.	0.879510760307	0.93895	D	0.004993	0.04418	T	-0.0860386	0.38727	T	-0.361365	0.37895	T	0.530307352542877	0.33745	D	0.641836	0.25394	T	0.09757604	0.23003	0.11725179	0.28304	0.09757604	0.23002	0.11725179	0.28303	-8.038	0.61329	D	.	.	0.306	0.53448	B	.	.	3.820242	0.55160	23.6	0.99694702746014963	0.80180	0.00549	0.02518	N	AEFDBHCIJ	0.050524	0.08839	N	-0.924000547837126	0.10283	0.4906266	-0.972180068989322	0.10413	0.5242845	0.999830280256427	0.43792	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	2.84	1.5	0.22029	0.837000	0.27212	-0.014000	0.13018	0.441000	0.21086	0.003000	0.16062	0.001000	0.17328	0.887000	0.42601	0.3325:0.0:0.0:0.6675	4.365	0.10655	834	0.38640	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	572.43	33	chr7	124032964	.	T	A	572.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.38;DP=235;ExcessHet=0;FS=6.043;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=28.62;ReadPosRankSum=-1.094;SOR=2.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,15:20:99:0|1:124032950_C_T:584,0,154:124032950	9	0	1	0
chr7	128339294	128339294	G	A	exonic	RBM28	.	nonsynonymous SNV	RBM28:NM_018077:exon3:c.C305T:p.P102L	.	0	1512	10	0	0	10	0.00329598	.	.	.	2431603	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.00319089655211	0.0002	.	0.0003	0	0.0002	0	0	0.0004	0.0011	0.0005	0.0002458	38	154602	rs138804501	0.0002	0.0002	0.0002	0.0002	0.0123	0.0002	0.0002	0.0100	0.0092	8.972e-05	0.0002	0.0013	0	1.875e-05	0.0123	9.089e-05	0.0005	0.0003	0.0001	0.0001	0.0001	9.406e-05	0.0004	6.511e-05	5.322e-05	0.0001	7.896e-05	0	0	0	0.0006	0	0	0	0.0002	0	0.0004	0.237	0.18498	T	0.331	0.18505	T	0.0	0.02946	B	0.001	0.04355	B	0.252130	0.03653	N	1.418340	1	0.08975	N	0	0.06538	N	2.81	0.33412	T	-1.39	0.64939	N	0.121	0.11197	-0.9950	0.31299	T	0.032	0.13679	T	10	0.012764573	0.00273	T	0.003191	0.06996	T	0.053	0.14996	.	.	0.0401082797425	0.02173	0.26272313448134	0.26185	0.137404868956	0.15494	0.263786971569	0.05350	T	0.006922	0.06344	T	-0.52028	0.00438	T	-0.668966	0.07675	T	0.0119551528117205	0.00187	T	0.630737	0.24588	T	0.016916445	0.00232	0.024860531	0.00514	0.016916445	0.00232	0.024860531	0.00514	-3.452	0.15766	T	.	.	0.057	0.06617	B	.;.;.	.;.;.	-1.183923	0.00547	0.013	0.79554099547628165	0.12794	0.01741	0.05494	N	AEFBI	0.031325	0.03323	N	-1.91100263353447	0.00326	0.01399773	-2.00827105045742	0.00294	0.01299188	0.999999999999985	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.86	-11.7	0.00035	-2.130000	0.01399	-0.559000	0.08487	-0.194000	0.09177	0.000000	0.06391	0.000000	0.08366	0.385000	0.26447	0.1718:0.0:0.5988:0.2294	12.957	0.57833	648	0.63242	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.008152	0.026316	0.000000	0.000000	0.000000	0.000000	0.05	417.43	33	chr7	128339294	.	G	A	417.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.65;DP=356;ExcessHet=0;FS=1.249;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=-0.954;SOR=1.049	GT:AD:DP:GQ:PL	0/1:24,18:42:99:429,0,520	9	0	1	0
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	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	0.018630	0.060606	0.006793	0.008772	0.000000	0.017241	0.033537	0.007576	0.3889	3155.34	233	chr7	128479325	.	T	C	3155.34	.	AC=7;AF=0.389;AN=18;BaseQRankSum=3.39;DP=2112;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=57.37;MQRankSum=-12.3;QD=2.18;ReadPosRankSum=-3.823;SOR=5.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,21:198:99:0|1:128479325_T_C:342,0,7311:128479325	2	0	7	1
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	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	0.021652	0.075758	0.008152	0.014620	0.000000	0.017241	0.033537	0.011364	0.4375	3209.13	233	chr7	128479326	.	G	C	3209.13	.	AC=7;AF=0.438;AN=16;BaseQRankSum=2.7;DP=2129;ExcessHet=7.0302;FS=50.038;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.5;MQ=57.39;MQRankSum=-12.3;QD=2.21;ReadPosRankSum=-3.844;SOR=5.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:177,21:198:99:0|1:128479325_T_C:342,0,7311:128479325	1	0	7	2
chr7	129203570	129203570	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon2:c.G518A:p.R173H	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	426	1077	19	0	0	19	0.00874367	.	.	.	139006	not_provided|not_specified|SMO-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.118	0.0483655428705	0.0005	0.00139776	0.0015	0.0001	0.0013	0	0.0003	0.0012	0.0046	0.0046	0.0010543	163	154602	rs147491841	0.0007	0.0007	0.0006	0.0009	0.0193	0.0007	0.0007	0.0164	0.0153	0.0001	0.0006	0.0007	0	2.361e-05	0.0193	0.0004	0.0010	0.0039	0.0006	0.0006	0.0005	0.0007	0.0062	0.0005	0.0005	0.0045	0.0039	9.624e-05	0	0.0006	0.0006	0	0	0.0136	0.0007	0	0.0062	0.553	0.06523	T	0.876	0.03259	T	0.0	0.02946	B	0.0	0.01387	B	0.002615	0.36243	N	0.358120	0.735721	0.29785	N	1.21	0.30464	L	-1.05	0.76690	T	0.04	0.06488	N	0.185	0.20129	-0.8656	0.50856	T	0.229	0.59447	T	10	0.0075823963	0.00172	T	0.048366	0.63340	D	0.118	0.32913	.	.	0.619681665072	0.61659	0.3171564670168714	0.31628	0.759997885566	0.64206	0.246255680919	0.03384	T	0.341735	0.71060	T	-0.46842	0.00870	T	-0.44591	0.28148	T	0.0141043006165336	0.00275	T	0.660634	0.26999	T	0.03716102	0.04710	0.032285657	0.01940	0.03716102	0.04710	0.032285657	0.01940	-3.78	0.20506	T	.	.	0.077	0.06295	B	.	.	1.837664	0.23349	15.98	0.62175619397798654	0.06895	0.08963	0.14810	N	AEFDBI	0.087613	0.17765	N	-0.60068809230682	0.18924	0.9864085	-0.416373114472013	0.24516	1.342945	0.851073603676254	0.25046	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.5	3.19	0.35720	1.199000	0.31842	1.801000	0.28882	-0.116000	0.14526	0.467000	0.26699	1.000000	0.68203	0.973000	0.55318	0.7508:0.0:0.2492:0.0	7.147	0.24764	714	0.56256	Frizzled domain|Frizzled domain|Frizzled 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	0	0	1	0	0.016211	0.000000	0.009511	0.041176	0.000000	0.017241	0.012346	0.026718	0.05	1013.43	35	chr7	129203570	.	G	A	1013.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.05;DP=372;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.61;ReadPosRankSum=0.813;SOR=0.639	GT:AD:DP:GQ:PL	0/1:21,40:61:99:1025,0,471	9	0	1	0
chr7	139614492	139614492	G	A	exonic	HIPK2	.	nonsynonymous SNV	HIPK2:NM_022740:exon8:c.C1784T:p.A595V	.	.	.	.	.	.	.	.	0.4412	0.618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0474481057809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.328e-07	7.561e-06	0	1.712e-06	1.039e-06	0	0	.	.	0	0	0	0	0	0	1.039e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344	0.12552	T	0.489	0.15059	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	0.998956	0.81001	D	.	.	.	0.67	0.52187	T	-0.58	0.17417	N	0.529	0.61511	-1.0705	0.09304	T	0.093	0.35390	T	8	0.30987635	0.48470	T	0.047448	0.62924	D	0.062	0.17934	0.066	0.00312	0.553613530234	0.55019	0.32720391015854233	0.32633	0.44134038575	0.44124	0.517784118652	0.41314	T	0.161266	0.50545	T	-0.149983	0.28314	T	-0.453216	0.27341	T	0.583903759283412	0.35769	D	0.634537	0.27701	T	0.048329554	0.08406	0.09353187	0.22095	0.048329554	0.08406	0.09353187	0.22094	-1.692	0.02208	T	.	.	0.104	0.18705	B	.;.	.;.	3.923317	0.57294	23.8	0.99256542791234592	0.57055	0.93816	0.59273	D	AEFBCI	0.657221	0.62893	D	0.417016637654045	0.62357	4.450356	0.441178988619543	0.64151	4.663966	0.999999573393191	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.78367	0.99111	0	0.635551	0.53088	0	.	.	5.39	4.5	0.54382	5.853000	0.69232	8.686000	0.78060	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0736:0.0:0.9264:0.0	13.876	0.63153	899	0.25060	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	64.94	38	chr7	139614492	.	G	A	64.94	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-2.238;DP=655;ExcessHet=0.2348;FS=86.237;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.698;SOR=7.137	GT:AD:DP:GQ:PL	0/1:51,18:73:37:37,0,972	4	0	2	4
chr7	140017700	140017700	G	A	exonic	TBXAS1	.	nonsynonymous SNV	TBXAS1:NM_001366537:exon11:c.G1211A:p.R404Q,TBXAS1:NM_001061:exon12:c.G1394A:p.R465Q,TBXAS1:NM_001314028:exon12:c.G1337A:p.R446Q,TBXAS1:NM_001166253:exon13:c.G1532A:p.R511Q,TBXAS1:NM_001166254:exon14:c.G1193A:p.R398Q,TBXAS1:NM_001130966:exon16:c.G1394A:p.R465Q	Ghosal hematodiaphyseal syndrome, Autosomal recessive	0	1489	32	1	0	34	0.0112882	.	.	.	587929	not_provided|not_specified|TBXAS1-related_disorder	MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.040	0.00779722285529	0.0011	0.00139776	0.0020	0.0001	0.0020	0	0.0018	0.0025	0.0045	0.0021	0.001824	282	154602	rs41311778	0.0014	0.0014	0.0013	0.0014	0.0090	0.0013	0.0013	0.0070	0.0063	0.0002	0.0019	0.0050	7.558e-05	0.0021	0.0090	0.0012	0.0023	0.0019	0.0013	0.0014	0.0013	0.0014	0.0022	0.0012	0.0011	0.0016	0.0014	7.216e-05	0	0.0022	0.0061	0	0.0014	0.0102	0.0017	0.0024	0.0021	0.21	0.19639	T	0.637	0.07419	T	0.031	0.20130	B	0.015	0.17295	B	0.065881	0.21850	N	0.483473	1	0.08975	N	.	.	.	-0.24	0.66834	T	0.25	0.04456	N	0.128	0.17691	-0.9798	0.35048	T	0.077	0.30676	T	10	0.007707268	0.00175	T	0.007797	0.20694	T	0.040	0.10527	.	.	0.273503213844	0.26977	0.6146852025524998	0.61400	0.137519854837	0.15505	0.248660236597	0.03628	T	0.006446	0.05881	T	-0.467726	0.00878	T	-0.457862	0.26832	T	0.0109043994219762	0.00156	T	0.689031	0.29821	T	.	.	.	.	.	.	.	.	-4.345	0.28802	T	.	.	0.078	0.06803	B	.;.;.;.;.	.;.;.;.;.	0.838685	0.12104	8.655	0.96610486747485569	0.30441	0.02841	0.07592	N	AEFDBCI	0.125115	0.24148	N	-1.4376983823085	0.02315	0.1020869	-1.48100394523166	0.02500	0.1150909	0.999999994997579	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.69	-5.64	0.02269	0.670000	0.24838	-0.528000	0.08651	-0.113000	0.14837	0.006000	0.17386	0.000000	0.08366	0.253000	0.23340	0.6056:0.1043:0.1751:0.115	4.773	0.12537	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004536	0.005051	0.002717	0.008772	0.050000	0.008621	0.003049	0.000000	0.15	3098.43	40	chr7	140017700	.	G	A	3098.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.04;DP=436;ExcessHet=0;FS=0.719;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=20.79;ReadPosRankSum=0.653;SOR=0.835	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1113,0,758	8	1	1	0
chr7	142063511	142063511	C	A	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon36:c.C4270A:p.P1424T,MGAM:NM_004668:exon36:c.C4270A:p.P1424T	.	424	1088	10	0	0	10	0.00457457	.	.	.	699890	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.924	.	0.0066	0.00259585	0.0073	0.0011	0.0026	0	0.0198	0.0098	0.0084	0.0031	0.0068887	1065	154602	rs185053832	0.0097	0.0097	0.0099	0.0095	0.0108	0.0096	0.0095	0.0107	0.0106	0.0013	0.0031	0.0073	5.043e-05	0.0171	0.0024	0.0108	0.0093	0.0031	0.0075	0.0076	0.0076	0.0075	0.0112	0.0072	0.0070	0.0105	0.0102	0.0016	0.0121	0.0035	0.0092	0	0.0184	0	0.0112	0.0095	0.0021	0.002	0.72154	D	0.002	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999672	0.48205	D	4.15	0.97575	H	-3.13	0.92829	D	-7.47	0.94958	D	0.935	0.94904	0.932	0.96136	D	0.906	0.96892	D	9	0.041749626	0.02858	T	.	.	.	0.924	0.98117	.	.	0.968639366473	0.96829	0.7952344949650757	0.79476	0.314917620909	0.33772	0.616810083389	0.55278	T	0.826896	0.95826	D	0.0869764	0.62847	D	0.362547	0.90798	D	0.096197229198094	0.11933	T	0.934107	0.84340	D	0.86951214	0.88823	0.81677973	0.89333	0.86951214	0.88824	0.81677973	0.89333	-13.011	0.89410	D	.	.	0.951	0.87017	P	.;.;.	.;.;.	4.458664	0.69369	25.4	0.9966564841761234	0.78266	0.99259	0.93576	D	AEFBI	0.872503	0.79439	D	0.851508806426223	0.89192	9.87237	0.67211760356626	0.80267	7.261131	0.999993569595763	0.74766	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.12	4.12	0.47504	7.512000	0.80617	.	.	0.329000	0.19528	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:1.0:0.0:0.0	15.216	0.72960	.	.	.;.;.	.	.	.	.	.	Likely benign	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	1	0	0.002518	0.000000	0.001359	0.000000	0.000000	0.008621	0.006098	0.003788	0.1	4622.14	34	chr7	142063511	.	C	A	4622.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.042;DP=769;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.75;MQRankSum=0.204;QD=9.53;ReadPosRankSum=0.571;SOR=0.682	GT:AD:DP:GQ:PL	0/1:130,121:251:99:2674,0,2948	8	0	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00241750934598	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs373019967	6.544e-06	0.0009	4.362e-06	8.725e-06	7.733e-06	3.08e-06	2.23e-06	3.33e-06	2.4e-06	0	0	0	0	1.901e-05	0	7.733e-06	0	0	0	1.985e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.412	0.14456	T	0.08	0.24543	B	0.074	0.28220	B	0.947612	0.07634	N	1.033800	1	0.08975	N	1.015	0.25427	L	5.65	0.00784	T	-0.47	0.15178	N	0.052	0.02366	-0.9758	0.35948	T	0.003	0.01092	T	10	0.07525703	0.11609	T	0.002418	0.04757	T	0.028	0.06331	0.652	0.78963	0.101711395817	0.09552	0.04758141662796776	0.04701	0.0497017490909	0.05451	0.254782557487	0.04288	T	0.002724	0.02115	T	-0.393424	0.02556	T	-0.802903	0.01831	T	0.103939465538467	0.12785	T	.	.	.	0.047795918	0.08228	0.037618708	0.03453	0.047795918	0.08227	0.037618708	0.03453	-3.217	0.12689	T	.	.	0.092	0.13503	B	.	.	-1.055815	0.00695	0.020	0.53951675314367431	0.05040	0.01208	0.04299	N	AEFBI	0.032596	0.03711	N	-1.54910637092624	0.01540	0.06726581	-1.68964110834314	0.01184	0.05327442	0.999999965671774	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.7	-8.61	0.00769	-1.143000	0.03311	-0.836000	0.07236	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.279:0.1065:0.5102:0.1042	6.528	0.21510	819	0.41190	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3	803.53	120	chr7	143478290	.	A	G	803.53	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-2.814;DP=831;ExcessHet=4.5998;FS=159.303;InbreedingCoeff=-0.3902;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=0.371;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,12:67:99:0|1:143478290_A_G:141,0,2050:143478290	4	0	6	0
chr7	156736511	156736511	C	T	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G862A:p.D288N,LMBR1:NM_001363409:exon10:c.G862A:p.D288N	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00204923495955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.437	0.13441	T	.	.	.	.	.	.	0.086552	0.02409	U	3.402510	1	0.08975	N	.	.	.	0.96	0.42888	T	-0.36	0.13035	N	.	.	-1.0578	0.12311	T	0.060	0.25163	T	9	0.085886	0.14546	T	0.002049	0.03748	T	0.039	0.10176	.	.	0.366848117066	0.36290	.	.	.	.	.	.	.	0.002359	0.01759	T	-0.396076	0.02457	T	-0.806712	0.01740	T	0.0450451410617822	0.04610	T	0.467453	0.13767	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06479	B	.	.	0.048382	0.04624	1.289	0.56156640439083361	0.05492	0.00450	0.02181	N	AEFBI	0.054002	0.09779	N	-1.02538935071908	0.08079	0.3775781	-1.12821899440288	0.07165	0.3475029	0.0760278551513058	0.15715	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	0.924	0.18544	-0.377000	0.07513	-1.091000	0.06358	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.781:0.0:0.219	4.206	0.09947	958	0.09170	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	419.4	152	chr7	156736511	.	C	T	419.4	.	AC=1;AF=0.083;AN=12;BaseQRankSum=-3.977;DP=1177;ExcessHet=0;FS=138.026;InbreedingCoeff=-0.1786;MLEAC=1;MLEAF=0.083;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=0.682;SOR=7.824	GT:AD:DP:GQ:PL	0/1:133,35:182:99:428,0,4293	5	0	1	4
chr7	156736513	156736513	C	G	exonic	LMBR1	.	nonsynonymous SNV	LMBR1:NM_001350953:exon10:c.G860C:p.G287A,LMBR1:NM_001363409:exon10:c.G860C:p.G287A	Acheiropody, Autosomal recessive;Hypoplastic or aplastic tibia with polydactyly, Autosomal dominant;Laurin-Sandrow syndrome, Autosomal dominant;Polydactyly, preaxial type II, Autosomal dominant;Syndactyly, type IV, Autosomal dominant;Triphalangeal thumb, type I, Autosomal dominant;Triphalangeal thumb-polysyndactyly syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00150614267822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.737	0.03730	T	0.742	0.04947	T	.	.	.	.	.	.	0.003055	0.35512	U	0.000000	1	0.08975	N	.	.	.	1.07	0.39586	T	0.36	0.03700	N	.	.	-1.0354	0.18731	T	0.036	0.15683	T	9	0.061228067	0.07643	T	0.001506	0.02318	T	0.015	0.02232	.	.	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.00383	0.03242	T	-0.375517	0.03324	T	-0.777181	0.02539	T	0.0953895747661591	0.11842	T	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.18037	B	.	.	-0.217594	0.03003	0.453	0.096758296991010767	0.00104	0.00485	0.02305	N	AEFBI	0.066300	0.12978	N	-1.38224089824468	0.02805	0.1243675	-1.49979183924639	0.02347	0.1077814	0.10501068513891	0.16491	0.559995	0.30671	0	0.446627	0.06534	0	0.573888	0.23631	0	0.550183	0.17644	0	.	.	1.83	-1.69	0.07747	-0.556000	0.06082	-1.611000	0.05064	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.3893:0.2507:0.36	2.769	0.05000	958	0.09170	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	731.52	144	chr7	156736513	.	C	G	731.52	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-4.933;DP=1309;ExcessHet=0;FS=137.744;InbreedingCoeff=-0.1429;MLEAC=1;MLEAF=0.071;MQ=60;MQRankSum=0;QD=3.98;ReadPosRankSum=0.781;SOR=7.824	GT:AD:DP:GQ:PL	0/1:135,49:184:99:741,0,4323	6	0	1	3
chr8	7973120	7973120	G	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C134G:p.S45C	.	1324	165	2	31	0	64	0.162437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147564	0.0321	0.0224	0	0.3333	0.7143	0.0352	0	0.2838	0.0124837	1930	154602	rs199984969	0.0049	0.0079	0.0034	0.0063	0.0097	0.0045	0.0043	0.0086	0.0082	0.0006	0.0059	0.0088	0.0043	0.0071	0	0.0097	0.0027	0.0043	0.0002	0.0027	0.0002	0.0001	0.0002	4.188e-05	2.232e-05	4.489e-05	2.315e-05	0.0002	.	0	0	0	0	0	0	0	0	.	.	.	0.101	0.38596	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	0.0018361509	0.00025	T	.	.	.	.	.	.	.	.	.	0.03465126907105807	0.03413	.	.	0.502864360809	0.39227	T	0.110821	0.42583	T	-0.515761	0.00466	T	-0.489946	0.23397	T	.	.	.	0.480052	0.14488	T	0.07720802	0.17510	0.159	0.37030	0.07720802	0.17510	0.159	0.37029	-5.09	0.37802	T	.	.	0.086	0.10449	B	.	.	1.202716	0.15947	12.22	0.53259318864439986	0.04905	0.01998	0.06024	N	AEFI	.	.	.	.	.	.	.	.	.	1.32385288154829E-4	0.05486	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.51611	0.39628	0.45	0.45	0.15835	-0.635000	0.05568	-0.101000	0.11941	-0.704000	0.03997	0.001000	0.13787	0.000000	0.08366	0.022000	0.11911	1.0E-4:0.0:0.9999:0.0	6.846	0.23171	988	0.01987	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	41.67	.	chr8	7973120	.	G	C	41.67	.	AC=2;AF=0.333;AN=6;DP=8;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.333;MQ=40;QD=20.83;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	2	1	0	7
chr8	7973150	7973150	G	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.C104G:p.T35S	.	1202	314	3	3	0	9	0.0141287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0006	0	0	0.0385	0.0143	0	0.0029	3.84e-05	1	26028	rs201893552	0.0024	0.0066	0.0015	0.0034	0.0081	0.0022	0.0021	0.0054	0.0051	0.0001	0.0004	0.0022	0.0015	0.0018	0.0081	0.0061	0.0006	0.0004	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	0.992	0.02353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0058850944	0.00132	T	.	.	.	.	.	.	.	0.0920862733494	0.08535	0.035133943828997025	0.03460	.	.	0.482345283031	0.36380	T	0.002032	0.01442	T	-0.525454	0.00409	T	-0.557634	0.16599	T	.	.	.	0.456254	0.13085	T	0.07411694	0.16611	0.100783765	0.24109	0.07411694	0.16611	0.100783765	0.24109	-2.561	0.06212	T	.	.	0.086	0.10594	B	.	.	-0.468485	0.01970	0.171	0.42461884011545525	0.03132	0.00181	0.01060	N	AEFI	.	.	.	.	.	.	.	.	.	1.19546244847725E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	0.45	0.15835	-0.980000	0.03880	-2.601000	0.03561	-0.809000	0.03084	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	81.96	.	chr8	7973150	.	G	C	81.96	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=40;QD=28.8;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:7973150_G_C:90,6,0:7973150	3	1	0	6
chr8	7973153	7973153	C	T	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.G101A:p.R34Q	.	1211	305	3	3	0	9	0.0145396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00658946	0.0042	0.0037	0.0085	0	0.0385	0.0133	0	0.0026	0.0012679	33	26028	rs199927285	0.0039	0.0068	0.0023	0.0054	0.0110	0.0036	0.0034	0.0076	0.0072	0.0010	0.0033	0.0045	0.0023	0.0028	0.0110	0.0084	0.0019	0.0006	0.0013	0.0025	0.0011	0.0016	0.0014	0.0009	0.0008	0.0010	0.0009	0.0014	.	0	0	0	0	0	0	0	0	.	.	.	0.599	0.07972	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.09354	N	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.003292799	0.00057	T	.	.	.	.	.	.	.	0.0846915920261	0.08053	0.044797436758796445	0.04423	.	.	0.456138342619	0.32783	T	0.007363	0.06771	T	-0.530067	0.00384	T	-0.539418	0.18352	T	.	.	.	0.722728	0.33613	T	0.05372387	0.10207	0.084068626	0.19314	0.05372387	0.10207	0.084068626	0.19313	-3.473	0.16056	T	.	.	0.075	0.05491	B	.	.	0.127486	0.05237	1.742	0.56585291076186361	0.05584	0.00154	0.00927	N	AEFI	.	.	.	.	.	.	.	.	.	1.14864141646167E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	0.45	0.15835	-0.181000	0.09734	-8.990000	0.00883	-0.925000	0.02178	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	81.96	.	chr8	7973153	.	C	T	81.96	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=40;QD=33.09;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:7973150_G_C:90,6,0:7973150	3	1	0	6
chr8	7973169	7973169	A	C	exonic	USP17L8	.	nonsynonymous SNV	USP17L8:NM_001256872:exon1:c.T85G:p.F29V	.	1206	310	3	3	0	9	0.0143084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0009	0	0.0022	0	0.0090	0	0.0023	3.84e-05	1	26028	rs200849376	0.0048	0.0098	0.0026	0.0069	0.0192	0.0044	0.0043	0.0102	0.0098	0.0001	0.0027	0.0062	0.0033	0.0029	0.0192	0.0112	0.0021	0.0012	0	0.0010	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	.	.	.	0.521	0.10429	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	0.14455	N	.	.	.	.	.	.	0.067	0.03956	.	.	.	.	.	.	.	0.006848842	0.00156	T	.	.	.	.	.	.	.	0.173771789658	0.16945	0.05122364867799584	0.05064	.	.	0.517447173595	0.41267	T	0.003077	0.02473	T	-0.471819	0.00828	T	-0.469526	0.25567	T	.	.	.	0.677032	0.28590	T	0.11148907	0.26346	0.20951682	0.45299	0.11148907	0.26346	0.20951682	0.45298	-2.322	0.04677	T	.	.	0.082	0.08948	B	.	.	0.443033	0.08133	4.862	0.16805105425743158	0.00465	0.00150	0.00907	N	AEFI	.	.	.	.	.	.	.	.	.	1.42799992388748E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0443366	0.03230	0.45	-0.9	0.10008	-0.402000	0.07284	-0.250000	0.10515	-0.754000	0.03558	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	.	.	.	988	0.01987	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.6667	134.13	.	chr8	7973169	.	A	C	134.13	.	AC=4;AF=0.667;AN=6;DP=7;ExcessHet=0;FS=0;MLEAC=5;MLEAF=0.833;MQ=42.05;QD=33.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,2:2:6:.:.:49,6,0:.	1	2	0	7
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	4086.3	104	chr8	10609944	.	A	G	4086.3	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.723;DP=2045;ExcessHet=2.8389;FS=208.044;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.55;ReadPosRankSum=-0.301;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,51:223:99:0|1:10609943_C_T:731,0,6242:10609943	2	0	5	3
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.25	7877.1	171	chr8	10609948	.	C	G	7877.1	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-2.09;DP=2037;ExcessHet=4.5998;FS=302.386;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=60;MQRankSum=0;QD=5.66;ReadPosRankSum=1.74;SOR=12.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,50:232:99:0|1:10609943_C_T:685,0,6492:10609943	3	0	3	4
chr8	10609951	10609951	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4147C:p.G1383R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000999522392795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	0.23271	T	0.332	0.18449	T	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	3.32	0.06214	T	-0.19	0.09965	N	0.119	0.10911	-0.9193	0.45648	T	0.008	0.02926	T	9	0.065942734	0.08972	T	0.001	0.01073	T	0.046	0.12618	0.093	0.01151	0.227934060464	0.22382	0.06617806944583952	0.06556	.	.	0.210635006428	0.00839	T	0.036921	0.24283	T	-0.370804	0.03554	T	-0.770411	0.02754	T	0.0663731578014028	0.08132	T	0.492651	0.15191	T	0.07411346	0.16608	0.08802469	0.20498	0.07411346	0.16608	0.08802469	0.20497	-5.685	0.43560	T	.	.	0.183	0.39714	B	.	.	0.083321	0.04887	1.473	0.68578143915361423	0.08701	0.03752	0.09057	N	AEFDBI	0.030360	0.03039	N	-1.14382275890809	0.05882	0.2693335	-1.22974974199479	0.05437	0.2590894	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	0.846000	0.27335	0.099000	0.14623	-0.342000	0.05666	0.004000	0.16614	0.001000	0.17328	0.003000	0.05239	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	676.43	251	chr8	10609951	.	C	G	676.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-6.984;DP=2100;ExcessHet=0;FS=177.024;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=1.14;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,50:231:99:0|1:10609943_C_T:688,0,6430:10609943	9	0	1	0
chr8	10610143	10610143	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G3955A:p.A1319T	Occult macular dystrophy, Autosomal dominant	125	1367	29	1	0	31	0.0112116	.	.	YES	303845	not_specified|Occult_macular_dystrophy|Retinitis_pigmentosa_88|not_provided	MedGen:CN169374|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.014	.	.	.	0.0546	0.0564	0.0301	0.0038	0.0548	0.0765	0.0611	0.0425	0.0102582	267	26028	rs73201156	0.0058	0.0064	0.0057	0.0058	0.0120	0.0056	0.0056	0.0109	0.0104	0.0120	0.0042	0.0067	0.0001	0.0044	0.0068	0.0056	0.0053	0.0091	0.0052	0.0072	0.0047	0.0056	0.0110	0.0047	0.0046	0.0093	0.0090	0.0104	0	0.0026	0	0	0.0020	0	0.0020	0.0020	0.0110	0.482	0.08188	T	0.583	0.08419	T	.	.	.	.	.	.	0.137998	0.02862	U	2.034630	1	0.08975	N	.	.	.	3.6	0.04494	T	0.0	0.07008	N	0.026	0.00527	-0.9425	0.42218	T	0.013	0.04890	T	10	0.0030745268	0.00051	T	.	.	.	0.014	0.01968	.	.	.	.	0.05010190152371814	0.04953	.	.	0.202675610781	0.00539	T	.	.	.	-0.753027	0.00017	T	-0.838852	0.01116	T	0.000374212196715675	0.00003	T	0.256474	0.04006	T	0.028426755	0.02179	0.052011006	0.08486	0.028426755	0.02179	0.052011006	0.08486	-4.687	0.33246	T	0.133124925091336	0.14259	0.078	0.07036	B	.	.	0.811049	0.11821	8.390	0.29217792379652491	0.01539	0.00698	0.02970	N	AEFDBI	0.018868	0.00607	N	-1.08062410001593	0.07000	0.3239185	-1.16733684479058	0.06462	0.3111429	1.32301324571216E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	2.13	0.064	0.13662	0.249000	0.17989	-1.148000	0.06189	0.333000	0.19617	0.001000	0.13787	0.000000	0.08366	0.544000	0.30032	0.0:0.5526:0.0:0.4474	6.003	0.18760	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.201913	0.287879	0.177989	0.213450	0.200000	0.198276	0.204268	0.166667	0.1	6181.4	410	chr8	10610143	.	C	T	6181.4	.	AC=1;AF=0.1;AN=10;BaseQRankSum=2.11;DP=3355;ExcessHet=0;FS=1.408;InbreedingCoeff=-0.2121;MLEAC=1;MLEAF=0.1;MQ=60;MQRankSum=0;QD=21.39;ReadPosRankSum=2.74;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,157:289:99:1|0:10610127_T_TCCTCTAACTGCACCCTCTCTTCTTGCAGCCCTTCTATTACTTTAGTCC:6189,0,4987:10610127	4	0	1	5
chr8	10611469	10611469	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.C2629T:p.H877Y	Occult macular dystrophy, Autosomal dominant	1	1511	9	1	0	11	0.00362677	.	.	.	898691	RP1L1-related_disorder|Occult_macular_dystrophy|Retinal_dystrophy	.|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.088	0.0103837363551	.	.	0.0004	0	0.0008	0.0020	0	0	0.0041	0.0006	0.0001617	25	154602	rs770403429	9.104e-05	9.713e-05	6.566e-05	0.0001	0.0017	7.794e-05	7.326e-05	0.0013	0.0012	0	0	0	0.0017	0	0	1.649e-05	0.0002	0.0005	8.535e-05	8.529e-05	5.138e-05	0.0001	0.0014	4.953e-05	3.96e-05	0.0006	0.0005	0	0	0	0	0.0014	0	0	2.941e-05	0	0.0008	0.013	0.53900	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.59	0.40313	L	3.55	0.04746	T	-1.8	0.42384	N	0.103	0.08646	-0.9101	0.46842	T	0.007	0.02399	T	9	0.009045094	0.00205	T	0.010384	0.26850	T	0.088	0.25558	.	.	0.0138822411134	0.00435	0.09942595993681078	0.09873	.	.	0.35436207056	0.18562	T	0.086259	0.37685	T	-0.713623	0.00030	T	-0.801211	0.01872	T	0.0199657347726233	0.00697	T	0.39686	0.10010	T	0.048444957	0.08446	0.05338017	0.08979	0.048444957	0.08446	0.05338017	0.08978	-5.18	0.38738	T	0.12542323082033374	0.12472	0.102	0.18037	B	.	.	-0.341466	0.02441	0.278	0.33604050164669852	0.02010	0.02994	0.07853	N	AEFDBI	0.031083	0.03251	N	-1.42767578466719	0.02398	0.1058506	-1.49816958146183	0.02360	0.108395	0.00222497563580544	0.09245	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.63	-5.11	0.02682	-0.091000	0.11111	0.430000	0.18314	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2466:0.2096:0.2617:0.2821	0.151	0.00087	792	0.45996	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.001016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	407.43	38	chr8	10611469	.	G	A	407.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.181;DP=476;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.08;ReadPosRankSum=-1.832;SOR=0.784	GT:AD:DP:GQ:PL	0/1:46,21:67:99:419,0,1147	9	0	1	0
chr8	10622967	10622967	G	A	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon2:c.C235T:p.R79C	Occult macular dystrophy, Autosomal dominant	2	1512	8	0	0	8	0.00263852	.	.	.	152883	Retinitis_pigmentosa|Retinitis_pigmentosa_88|Occult_macular_dystrophy|Retinal_dystrophy|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MONDO:MONDO:0032940,MedGen:C5394208,OMIM:618826|Human_Phenotype_Ontology:HP:0030636,MONDO:MONDO:0013316,MedGen:C3150833,OMIM:613587,Orphanet:247834|Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.822	0.513199965374	8e-05	.	0.0002	0.0001	0.0003	0.0005	0	4.602e-05	0.0012	0.0004	0.0001294	20	154602	rs377269054	0.0001	0.0001	9.665e-05	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	5.974e-05	8.944e-05	0	0.0004	0	0.0002	9.802e-05	6.623e-05	0.0005	9.195e-05	9.187e-05	0.0001	8.058e-05	0.0004	5.525e-05	4.363e-05	7.296e-05	3.047e-05	0.0001	0	0	0	0	0	0	8.822e-05	0.0005	0.0004	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	3.12	0.87914	M	-3.6	0.95009	D	-7.93	0.96269	D	0.692	0.69737	0.978	0.96827	D	0.898	0.96632	D	9	0.9122136	0.90585	D	0.513	0.95333	D	0.822	0.94315	.	.	0.831912075908	0.83031	0.4220493210700986	0.42121	.	.	0.734552741051	0.72172	T	0.711889	0.91788	D	0.0935166	0.63583	D	0.226555	0.84503	D	0.852314472198486	0.50366	D	0.918008	0.70480	D	0.7132545	0.78787	0.6103005	0.77332	0.7132545	0.78788	0.6103005	0.77333	-8.449	0.64091	D	0.6182220397749271	0.68635	0.633	0.70215	P	.	.	5.135176	0.85954	28.8	0.99932257043501382	0.99439	0.95736	0.65935	D	AEFDBI	0.727570	0.67586	D	0.707436929890652	0.80121	7.224419	0.63129183270006	0.77225	6.638378	0.634286296745296	0.21996	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.74	4.74	0.59717	3.782000	0.55107	7.880000	0.72453	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:0.8283:0.1717	12.094	0.53044	778	0.48011	Doublecortin domain|Doublecortin domain|Doublecortin domain|Doublecortin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1413.43	36	chr8	10622967	.	G	A	1413.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.97;DP=444;ExcessHet=0;FS=1.614;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.187;SOR=0.914	GT:AD:DP:GQ:PL	0/1:65,54:119:99:1425,0,1514	9	0	1	0
chr8	17551800	17551800	T	C	exonic	SLC7A2	.	nonsynonymous SNV	SLC7A2:NM_001008539:exon6:c.T869C:p.I290T,SLC7A2:NM_001164771:exon6:c.T989C:p.I330T,SLC7A2:NM_003046:exon6:c.T989C:p.I330T,SLC7A2:NM_001370337:exon7:c.T869C:p.I290T,SLC7A2:NM_001370338:exon7:c.T869C:p.I290T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.753	0.153118763121	.	.	1.647e-05	9.61e-05	0	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs769010170	5.883e-05	5.883e-05	6.398e-05	5.363e-05	8.961e-05	4.876e-05	4.496e-05	6.059e-05	5.568e-05	8.961e-05	0	0	0	0	0	7.374e-05	0	1.159e-05	6.579e-06	6.568e-06	1.286e-05	0	2.416e-05	0	0	.	.	2.416e-05	0	0	0	0	0	0	0	0	0	0.048	0.42199	D	0.06	0.45744	T	0.385	0.34473	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	3.285	0.90273	M	-2.7	0.90509	D	-3.67	0.71042	D	0.478	0.54845	0.776	0.94109	D	0.822	0.94005	D	10	0.7389133	0.74817	D	0.153119	0.83443	D	0.753	0.91541	0.511	0.60846	0.977200349778	0.97694	0.8134863486220552	0.81304	0.142311550209	0.16042	0.740857839584	0.73099	T	0.761743	0.93551	D	0.212833	0.75099	D	0.347379	0.90213	D	0.78548538684845	0.45396	D	0.870113	0.57956	D	0.34900966	0.56990	0.38914168	0.63741	0.34900966	0.56990	0.38914168	0.63741	-8.977	0.68395	D	.	.	0.129	0.29670	B	.;.;.;.;.;.	.;.;.;.;.;.	4.044879	0.59916	24.2	0.9971652864262619	0.81703	0.97953	0.78390	D	AEFBI	0.864017	0.78270	D	0.432539562043891	0.63221	4.55161	0.486241315823866	0.67076	5.036067	0.999999699555447	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	6.269000	0.72536	7.919000	0.74425	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.740	0.77647	836	0.38045	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1212.43	33	chr8	17551800	.	T	C	1212.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.555;DP=430;ExcessHet=0;FS=3.413;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.27;ReadPosRankSum=-0.143;SOR=0.427	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1224,0,1380	9	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00706836418652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.40319	D	0.238	0.24549	T	.	.	.	.	.	.	0.090174	0.20389	N	0.555104	0.961293	0.26113	N	.	.	.	0.84	0.47477	T	-4.3	0.76496	D	0.246	0.27792	-1.0045	0.28607	T	0.111	0.39794	T	9	0.22104406	0.38819	T	0.007068	0.18731	T	0.081	0.23632	0.545	0.65873	0.527709697666	0.52419	0.24483781067763596	0.24397	0.0119131882015	0.01126	0.323112666607	0.13892	T	0.04384	0.26629	T	-0.132191	0.31142	T	-0.427659	0.30200	T	0.487845450639725	0.32185	T	0.687331	0.29630	T	0.30245233	0.53124	0.32984304	0.58859	0.30245233	0.53124	0.32984304	0.58859	-4.95	0.36292	T	.	.	0.081	0.10111	B	.;.	.;.	2.274105	0.29073	18.00	0.97543554842314006	0.34528	0.55831	0.29963	D	AEFGBHCIJ	0.166507	0.29309	N	-0.219843592222308	0.32320	1.821466	-0.0760077972745151	0.36385	2.116762	0.999889765854876	0.44867	0.573017	0.32728	1	0.607795	0.50457	0	0.491513	0.07944	0	0.648885	0.59868	0	.	.	5.66	4.51	0.54589	1.779000	0.38254	5.302000	0.48239	0.756000	0.94297	0.777000	0.29437	1.000000	0.68203	0.952000	0.50033	0.9115:0.0:0.0885:0.0	8.423	0.31876	921	0.19240	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	243.53	33	chr8	39963621	.	A	G	243.53	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.434;DP=958;ExcessHet=1.5895;FS=106.457;InbreedingCoeff=-0.2469;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.4;ReadPosRankSum=-0.423;SOR=10.175	GT:AD:DP:GQ:PL	0/1:114,30:144:99:110,0,2016	6	0	4	0
chr8	42732409	42732409	G	A	exonic	CHRNB3	.	nonsynonymous SNV	CHRNB3:NM_000749:exon5:c.G1102A:p.V368M,CHRNB3:NM_001347717:exon6:c.G880A:p.V294M	.	420	1084	18	0	0	18	0.00823422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0679876908316	0.0025	0.000998403	0.0026	0.0006	0.0020	0	0.0017	0.0036	0.0044	0.0024	0.002445	378	154602	rs56198260	0.0020	0.0020	0.0018	0.0022	0.0061	0.0019	0.0019	0.0045	0.0039	0.0003	0.0019	0.0083	0	0.0023	0.0061	0.0019	0.0025	0.0024	0.0019	0.0019	0.0018	0.0020	0.0027	0.0017	0.0017	0.0024	0.0022	0.0003	0	0.0020	0.0107	0	0.0015	0.0068	0.0027	0.0028	0.0015	0.255	0.16848	T	0.23	0.25135	T	0.005	0.12996	B	0.012	0.16012	B	0.839037	0.09048	N	0.922052	1	0.08975	N	0.845	0.21182	L	-2.03	0.85613	D	-0.25	0.11008	N	0.05	0.02179	-0.8081	0.54665	T	0.262	0.63253	T	10	0.0050426424	0.00109	T	0.067988	0.70325	D	0.078	0.22779	.	.	0.631193307288	0.62817	0.17562537641401327	0.17481	0.235224821337	0.26052	0.257494568825	0.04597	T	0.169877	0.51742	T	-0.478152	0.00758	T	-0.4636	0.26209	T	0.00115007752093708	0.00011	T	0.533147	0.17760	T	0.029428795	0.02437	0.03863572	0.03776	0.029428795	0.02437	0.03863572	0.03776	-4.373	0.29188	T	.	.	0.072	0.04316	B	.	.	0.549223	0.09179	5.961	0.76828870321348097	0.11626	0.16448	0.19394	N	AEFDI	0.164081	0.29043	N	-1.06518823092291	0.07293	0.3383417	-1.01863745347948	0.09375	0.4660809	0.971490785922222	0.29292	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.79	2.91	0.32903	0.038000	0.13749	0.712000	0.20944	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0625:0.3301:0.494:0.1134	7.583	0.27141	350	0.85473	Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006546	0.000000	0.006793	0.002924	0.100000	0.000000	0.012195	0.003788	0.05	1201.43	34	chr8	42732409	.	G	A	1201.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.655;DP=505;ExcessHet=0;FS=3.79;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.55;ReadPosRankSum=-0.931;SOR=1.129	GT:AD:DP:GQ:PL	0/1:60,44:104:99:1213,0,1623	9	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	264.77	48	chr8	66493691	.	G	C	264.77	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-2.1;DP=618;ExcessHet=0.7463;FS=390.645;InbreedingCoeff=-0.2495;MLEAC=3;MLEAF=0.167;MQ=59.65;MQRankSum=0;QD=1.18;ReadPosRankSum=1.92;SOR=9.49	GT:AD:DP:GQ:PL	0/1:58,22:80:40:40,0,865	6	0	3	1
chr8	69832177	69832177	T	A	exonic	SLCO5A1	.	nonsynonymous SNV	SLCO5A1:NM_001146008:exon1:c.A497T:p.E166V,SLCO5A1:NM_001146009:exon1:c.A497T:p.E166V,SLCO5A1:NM_030958:exon2:c.A497T:p.E166V	.	433	1084	5	0	0	5	0.00230097	.	.	.	1356304	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.423	0.0351771340259	0.0004	0.000199681	0.0003	0	0.0002	0	0	0.0003	0	0.0012	0.0002781	43	154602	rs373889949	0.0002	0.0002	0.0002	0.0003	0.0015	0.0002	0.0002	0.0013	0.0012	0	4.472e-05	0	0	0	0.0010	0.0002	0.0003	0.0015	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	4.815e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0.0006	0.051	0.40068	T	0.008	0.67890	D	0.998	0.73220	D	0.984	0.76113	D	0.000004	0.62929	D	0.103032	0.999999	0.58761	D	1.62	0.41497	L	0.29	0.58897	T	-2.31	0.60348	N	0.915	0.93252	-0.6751	0.61598	T	0.299	0.67055	T	10	0.33291394	0.50490	T	0.035177	0.56172	D	0.423	0.73152	.	.	0.848875118117	0.84742	0.7618792454894285	0.76135	0.812531241753	0.66800	0.799961924553	0.81957	T	0.044187	0.26736	T	-0.0133987	0.49789	T	0.167444	0.81257	D	0.0978043526411057	0.12114	T	0.914708	0.69569	D	0.490999	0.66562	0.56502646	0.74825	0.490999	0.66563	0.56502646	0.74825	-11.146	0.81352	D	.	.	0.683	0.80602	P	.;.;.	.;.;.	5.389893	0.90296	31	0.99289982283901912	0.58219	0.92567	0.56015	D	AEFDBCI	0.952528	0.96806	D	0.592613201604559	0.72711	5.849156	0.624118396965934	0.76696	6.538723	0.999999999999981	0.74766	0.59774	0.34471	0	0.484254	0.07192	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.71	5.71	0.89031	8.014000	0.88267	6.175000	0.54547	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.990	0.79987	895	0.25842	Major facilitator superfamily domain|Major facilitator superfamily 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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2163.43	68	chr8	69832177	.	T	A	2163.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.934;DP=534;ExcessHet=0;FS=1.158;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=0.295;SOR=0.588	GT:AD:DP:GQ:PL	0/1:95,89:184:99:2175,0,2381	9	0	1	0
chr8	94130936	94130936	C	T	exonic	CDH17	.	nonsynonymous SNV	CDH17:NM_001144663:exon16:c.G2224A:p.V742I,CDH17:NM_004063:exon16:c.G2224A:p.V742I	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00549291609984	7.7e-05	0.000399361	0.0001	0	0.0002	0.0003	0	3e-05	0	0.0004	9.7e-05	15	154602	rs139170804	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0023	0.0021	5.979e-05	2.238e-05	0	0.0027	7.491e-05	0.0017	7.568e-05	0.0003	0.0005	9.858e-05	0.0001	8.999e-05	0.0001	0.0008	6.008e-05	4.881e-05	0.0003	0.0002	0	0	0.0001	0	0.0008	9.452e-05	0	0.0001	0	0	0.728	0.05881	T	1.0	0.01155	T	0.02	0.28372	B	0.003	0.25678	B	0.991796	0.08025	N	0.995541	1	0.08975	N	0.17	0.09006	N	1.23	0.36872	T	-0.17	0.09627	N	0.116	0.15749	-0.9766	0.35772	T	0.037	0.15770	T	10	0.017949075	0.00387	T	0.005493	0.14136	T	0.024	0.04979	.	.	0.119812018005	0.11559	0.32372629705448863	0.32285	0.0567339573139	0.06270	0.329535186291	0.14863	T	0.113554	0.43068	T	-0.53628	0.00353	T	-0.680145	0.06974	T	0.0262707159627438	0.01443	T	0.657134	0.26688	T	0.024890456	0.01368	0.024684494	0.00493	0.024890456	0.01367	0.024684494	0.00493	-4.448	0.30203	T	.	.	0.070	0.04889	B	.;.;.	.;.;.	-1.081243	0.00663	0.018	0.42202741069062016	0.03095	0.00439	0.02144	N	AEFBI	0.041717	0.06380	N	-1.72864751017864	0.00745	0.03217032	-1.81422465451657	0.00715	0.03184284	0.683815084908233	0.22511	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.67	-9.46	0.00504	-2.090000	0.01444	-5.870000	0.01569	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1074:0.6845:0.0:0.2082	13.492	0.60855	815	0.41851	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	859.43	98	chr8	94130936	.	C	T	859.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.91;DP=455;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=-0.573;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,35:79:99:0|1:94130936_C_T:871,0,1630:94130936	9	0	1	0
chr8	119758104	119758104	T	C	exonic	TAF2	.	nonsynonymous SNV	TAF2:NM_003184:exon21:c.A2737G:p.M913V	Mental retardation, autosomal recessive 40, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1344243	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.107	0.0152404202454	0.0002	.	6.593e-05	0	8.639e-05	0	0	7.497e-05	0.0022	0	5.17e-05	8	154602	rs373917557	6.571e-05	6.635e-05	6.81e-05	6.328e-05	0.0003	5.498e-05	5.11e-05	6.096e-05	4.113e-05	0	8.945e-05	0.0003	0	0	0.0003	5.667e-05	0.0002	9.278e-05	5.257e-05	5.254e-05	7.709e-05	2.69e-05	0.0002	2.557e-05	1.83e-05	1.972e-05	1.124e-05	0	0	0	0.0009	0	0	0	5.88e-05	0	0.0002	0.075	0.44358	T	0.022	0.57587	D	0.009	0.15093	B	0.014	0.16862	B	0.000001	0.62929	D	0.127189	0.999995	0.58761	D	1.15	0.29295	L	0.97	0.42502	T	-0.25	0.22508	N	0.873	0.87049	-1.0891	0.05684	T	0.078	0.31224	T	10	0.15104735	0.28558	T	0.01524	0.35857	T	0.107	0.30369	.	.	0.744240231762	0.74193	0.4968890820016353	0.49609	0.412230636246	0.41969	0.50600039959	0.39663	T	0.011379	0.10158	T	-0.0716272	0.41064	T	-0.13801	0.60291	T	0.0619214735925198	0.07468	T	0.921608	0.71541	D	0.25560555	0.48595	0.14264672	0.33929	0.25560555	0.48595	0.14264672	0.33928	-5.859	0.45085	T	0.09344570143363792	0.06147	0.113	0.45049	B	.;.	.;.	2.901386	0.38459	20.7	0.98398254741956759	0.41042	0.96601	0.69959	D	AEFBI	0.555588	0.56597	D	-0.0895885513634342	0.37848	2.207964	0.132511275862608	0.46223	2.871714	0.931904689464539	0.27067	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.66	5.66	0.87293	4.534000	0.60334	7.827000	0.69967	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.898	0.79131	895	0.25842	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1500.14	33	chr8	119758104	.	T	C	1500.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.632;DP=458;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=-0.335;SOR=0.683	GT:AD:DP:GQ:PL	0/1:36,33:69:99:700,0,744	8	0	2	0
chr8	123097290	123097290	G	A	exonic	TBC1D31	.	nonsynonymous SNV	TBC1D31:NM_001330606:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363152:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363154:exon5:c.G365A:p.R122Q,TBC1D31:NM_001363155:exon5:c.G365A:p.R122Q,TBC1D31:NM_001145088:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363148:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363149:exon6:c.G650A:p.R217Q,TBC1D31:NM_001363150:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363151:exon6:c.G680A:p.R227Q,TBC1D31:NM_001363153:exon6:c.G680A:p.R227Q,TBC1D31:NM_145647:exon6:c.G680A:p.R227Q	.	434	1086	2	0	0	2	0.000919963	.	.	.	2333648	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.052	0.025766431007	0.0002	0.000199681	0.0001	0	8.639e-05	0	0	0.0002	0	6.058e-05	0.0001617	25	154602	rs143777547	0.0003	0.0003	0.0003	0.0003	0.0109	0.0003	0.0002	0.0088	0.0080	0.0003	4.474e-05	0	2.519e-05	1.872e-05	0.0109	0.0003	0.0004	9.277e-05	0.0001	0.0001	6.427e-05	0.0002	0.0002	7.575e-05	6.28e-05	0.0001	9.898e-05	4.816e-05	0	6.542e-05	0	0	0	0.0034	0.0002	0	0	0.049	0.40832	D	0.085	0.60972	T	0.15	0.27995	B	0.023	0.19966	B	0.000195	0.48115	D	0.134555	0.672534	0.30923	N	1.65	0.42232	L	-0.22	0.70717	T	-1.55	0.47008	N	0.242	0.30233	-0.6383	0.63218	T	0.222	0.58510	T	10	0.09917486	0.17980	T	0.025766	0.48722	D	0.052	0.14661	.	.	0.66689630219	0.66409	0.2933300572960414	0.29246	0.0822840834372	0.09278	0.347335666418	0.17529	T	0.008408	0.20609	T	-0.267882	0.11993	T	-0.325011	0.42024	T	0.0652582868933678	0.07970	T	0.937306	0.77406	D	0.14157243	0.32615	0.09822833	0.23411	0.14157243	0.32615	0.09822833	0.23410	-9.005	0.69481	D	.	.	0.077	0.14385	B	.;.;.;.;.	.;.;.;.;.	3.736824	0.53487	23.4	0.99777427655962714	0.86433	0.86073	0.45287	D	AEFGBI	0.124766	0.24097	N	-0.0570546018428104	0.39287	2.314409	0.113427382016881	0.45235	2.790256	0.999949088223639	0.47345	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.94	5.07	0.68106	3.345000	0.51899	9.798000	0.81680	0.618000	0.50648	0.991000	0.37257	1.000000	0.68203	0.984000	0.60418	0.1319:0.0:0.8681:0.0	13.248	0.59460	924	0.18029	WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing 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	0.011581	0.020202	0.006793	0.032164	0.000000	0.008621	0.003049	0.003788	0.1	896.14	35	chr8	123097290	.	G	A	896.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.185;DP=357;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=-0.232;SOR=0.625	GT:AD:DP:GQ:PL	0/1:16,19:35:99:401,0,384	8	0	2	0
chr8	141150951	141150951	C	T	exonic	DENND3	.	stopgain	DENND3:NM_001352890:exon6:c.C853T:p.Q285X,DENND3:NM_001362798:exon6:c.C853T:p.Q285X,DENND3:NM_014957:exon6:c.C652T:p.Q218X	.	.	.	.	.	.	.	.	0.9981	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.052656	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.526	0.56058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	0.999495148658752	0.97632	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.	.;High;.;.	10.226168	0.99644	46	0.99840391849317234	0.92057	0.98538	0.83854	D	AEFBI	0.677420	0.64213	D	1.00298844853554	0.95835	14.01585	0.822893962654012	0.91339	10.83635	0.999999997818864	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.616094	0.41390	0	0.735409	0.98432	0	.	.	5.4	5.4	0.77957	4.895000	0.62904	3.783000	0.39798	0.597000	0.34315	1.000000	0.71638	0.999000	0.35428	0.186000	0.21481	0.0:0.8583:0.1417:0.0	15.059	0.71605	965	0.07246	cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;cDENN domain|Tripartite DENN domain|cDENN domain;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1613.43	36	chr8	141150951	.	C	T	1613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.823;DP=569;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=-0.61;SOR=0.693	GT:AD:DP:GQ:PL	0/1:85,70:155:99:1625,0,2310	9	0	1	0
chr8	143719399	143719399	G	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon7:c.G638A:p.R213Q	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0211258169129	0.0019	0.00119808	0.0006	0.0048	0	0	0	7.691e-05	0	0.0007	0.0004786	74	154602	rs149683519	0.0002	0.0002	0.0002	0.0002	0.0048	0.0002	0.0002	0.0042	0.0040	0.0048	0.0002	0	5.045e-05	0	0.0004	5.671e-05	0.0004	0.0004	0.0014	0.0014	0.0013	0.0014	0.0044	0.0012	0.0012	0.0039	0.0037	0.0044	0	0.0008	0	0	0	0	0.0001	0.0019	0	0.472	0.09866	T	0.627	0.08161	T	0.532	0.37747	P	0.189	0.36295	B	0.002761	0.35968	N	0.233835	0.905709	0.27611	N	0.805	0.20218	L	0.96	0.42888	T	-1.17	0.29933	N	0.327	0.36779	-1.0577	0.12337	T	0.034	0.14421	T	10	0.013413817	0.00284	T	0.021126	0.43850	T	0.034	0.08419	.	.	0.545653783935	0.54219	0.4725594373684126	0.47174	0.175580975443	0.19770	0.458374142647	0.33087	T	0.02337	0.17850	T	-0.576683	0.00202	T	-0.599775	0.12830	T	0.0183173702716272	0.00550	T	0.89531	0.63576	D	0.09656366	0.22747	0.10256139	0.24584	0.09656366	0.22746	0.10256139	0.24583	-7.397	0.56883	T	.	.	0.084	0.18497	B	.;.;.	.;.;.	2.850907	0.37639	20.5	0.85660178985436541	0.16032	0.30706	0.24151	N	AEFDGBCI	0.313459	0.41860	N	-0.578209887744595	0.19607	1.02753	-0.560268126467855	0.20533	1.106708	0.999997746959656	0.74766	0.634777	0.41761	0	0.626922	0.53725	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.14	2.09	0.26154	1.585000	0.36210	.	.	0.618000	0.50648	0.526000	0.27158	0.098000	0.22634	0.387000	0.26492	0.0:0.14:0.4826:0.3774	6.339	0.20518	895	0.25842	Protein kinase domain|Protein kinase 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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1966.43	39	chr8	143719399	.	G	A	1966.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.732;DP=584;ExcessHet=0;FS=0.579;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.21;ReadPosRankSum=0.193;SOR=0.759	GT:AD:DP:GQ:PL	0/1:76,85:161:99:1978,0,1635	9	0	1	0
chr8	143921870	143921870	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C7909T:p.R2637W,PLEC:NM_201379:exon32:c.C7885T:p.R2629W,PLEC:NM_201380:exon32:c.C8362T:p.R2788W,PLEC:NM_201381:exon32:c.C7855T:p.R2619W,PLEC:NM_201382:exon32:c.C7951T:p.R2651W,PLEC:NM_201383:exon32:c.C7963T:p.R2655W,PLEC:NM_201384:exon32:c.C7951T:p.R2651W,PLEC:NM_000445:exon33:c.C8032T:p.R2678W	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	1512	9	0	0	9	0.00296736	.	.	.	271858	PLEC-related_disorder|not_specified|Multiple_sclerosis|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|not_provided	.|MedGen:CN169374|MONDO:MONDO:0005301,MedGen:C0026769,Orphanet:802|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.0892679421351	0.0002	0.000998403	0.0013	0	0.0012	0	0	0.0003	0	0.0066	0.0010284	159	154602	rs145977158	0.0007	0.0007	0.0005	0.0009	0.0076	0.0007	0.0007	0.0071	0.0069	0.0002	0.0017	0.0002	2.52e-05	2.374e-05	0.0042	0.0002	0.0012	0.0076	0.0008	0.0008	0.0006	0.0011	0.0070	0.0007	0.0007	0.0052	0.0045	7.213e-05	0	0.0044	0	0	0	0.0034	0.0003	0.0009	0.0070	0.004	0.68238	D	0.011	0.65728	D	0.831	0.46109	P	0.219	0.39259	B	0.692613	0.10162	U	0.826770	0.999635	0.21810	N	0.69	0.16971	N	-0.43	0.69657	T	-1.36	0.33998	N	0.332	0.43706	-0.8740	0.50226	T	0.154	0.48516	T	10	0.006946206	0.00158	T	0.089268	0.75294	D	0.183	0.45592	.	.	0.467585353272	0.46384	0.7072283168383423	0.70664	.	.	0.288746058941	0.08740	T	0.239113	0.60715	T	-0.399757	0.02324	T	-0.343413	0.39959	T	0.0332422785504829	0.02511	T	0.982268	0.94010	D	0.121557176	0.28582	0.12775183	0.30746	0.12331171	0.28957	0.14040746	0.33468	-7.494	0.57568	T	0.12590170632301834	0.12611	0.133	0.28693	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.524328	0.49421	22.8	0.97520560472244899	0.34400	0.72046	0.35280	D	AEFDBHCI	0.559912	0.56853	D	-0.182731884891823	0.33853	1.925437	-0.152397208456512	0.33318	1.904501	0.999999874411303	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.95	3.95	0.44952	2.649000	0.46321	.	.	0.655000	0.54021	0.061000	0.21800	0.998000	0.33993	0.751000	0.35822	0.0:0.0:1.0:0.0	16.128	0.81216	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.010101	0.000000	0.010899	0.008772	0.000000	0.017241	0.012346	0.007576	0.05	2302.43	44	chr8	143921870	.	G	A	2302.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.516;DP=613;ExcessHet=0;FS=4.048;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.51;ReadPosRankSum=-0.924;SOR=0.98	GT:AD:DP:GQ:PL	0/1:103,97:200:99:2314,0,2350	9	0	1	0
chr8	143985613	143985613	C	T	exonic	PARP10	.	nonsynonymous SNV	PARP10:NM_001317895:exon3:c.G508A:p.G170S,PARP10:NM_032789:exon4:c.G472A:p.G158S	.	395	1112	15	0	0	15	0.00669942	.	.	.	750996	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.058	0.0246709375668	0.0005	0.00119808	0.0012	0.0001	0.0011	0	0	0.0006	0	0.0052	0.0010802	167	154602	rs146902781	0.0008	0.0008	0.0006	0.0009	0.0081	0.0007	0.0007	0.0063	0.0056	0.0003	0.0019	0.0003	2.519e-05	0	0.0081	0.0003	0.0015	0.0060	0.0009	0.0009	0.0007	0.0010	0.0068	0.0007	0.0007	0.0050	0.0044	4.812e-05	0	0.0039	0	0	0	0.0136	0.0005	0.0009	0.0068	0.892	0.03036	T	0.686	0.05995	T	0.779	0.44223	P	0.191	0.36391	B	0.016339	0.01438	N	2.496350	1	0.08975	N	1.04	0.26193	L	3.03	0.40218	T	0.13	0.09627	N	0.091	0.07398	-1.0163	0.24916	T	0.059	0.24908	T	10	0.00622499	0.00140	T	0.024671	0.47657	T	0.058	0.16647	.	.	0.470648230714	0.46691	0.4016270835265295	0.40078	0.190847562857	0.21398	0.417792081833	0.27534	T	0.00158	0.17514	T	-0.591125	0.00165	T	-0.62052	0.11145	T	0.0106959317258313	0.00150	T	0.49905	0.15971	T	0.02428221	0.01244	0.042435206	0.05052	0.02428221	0.01243	0.042435206	0.05051	-2.741	0.07654	T	.	.	0.096	0.21428	B	.;.;.;.;.;.	.;.;.;.;.;.	0.519427	0.08885	5.662	0.73515414462691253	0.10356	0.01182	0.04236	N	AEFDGBI	0.051616	0.09136	N	-0.905260616140806	0.10718	0.5135578	-1.04094916640309	0.08896	0.4397313	0.999992701025018	0.74766	0.646311	0.45356	0	0.685571	0.66316	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	3.87	-2.17	0.06663	-1.003000	0.03792	.	.	-0.195000	0.09104	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.0:0.2467:0.5234:0.2299	5.710	0.17201	970	0.06235	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.011581	0.000000	0.014946	0.014620	0.000000	0.025862	0.012195	0.003788	0.05	1271.43	39	chr8	143985613	.	C	T	1271.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.08;DP=500;ExcessHet=0;FS=2.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.11;ReadPosRankSum=0.402;SOR=0.471	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1283,0,1203	9	0	1	0
chr8	144040597	144040597	A	G	exonic	SPATC1	.	nonsynonymous SNV	SPATC1:NM_001134374:exon3:c.A796G:p.T266A,SPATC1:NM_198572:exon3:c.A796G:p.T266A	.	435	1081	6	0	0	6	0.00276753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.004351725389	.	.	2.612e-05	0	0	0	0	1.548e-05	0	0.0002	1.94e-05	3	154602	rs782249613	6.189e-06	6.156e-06	2.735e-06	9.682e-06	0.0002	2.91e-06	2.11e-06	1.597e-05	9.39e-06	0	0	0	0	0	0.0002	1.805e-06	3.33e-05	4.697e-05	6.723e-06	6.627e-06	1.312e-05	0	1.489e-05	0	0	.	.	0	0	0	0	0	0	0	1.489e-05	0	0	0.244	0.18371	T	0.5	0.32783	T	0.001	0.07471	B	0.001	0.04355	B	0.114655	0.02671	N	1.806350	1	0.08975	N	0.145	0.08828	N	1.06	0.39781	T	-0.77	0.31778	N	0.033	0.00882	-1.0584	0.12159	T	0.049	0.20711	T	10	0.044386327	0.03390	T	0.004352	0.10592	T	0.023	0.04649	0.175	0.08135	0.0138822411134	0.00435	0.09257857469958557	0.09189	0.0831203375119	0.09374	0.318312615156	0.13165	T	0.002462	0.01855	T	-0.514987	0.00470	T	-0.772013	0.02702	T	0.0240650727063856	0.01153	T	0.383762	0.09387	T	0.02265294	0.00943	0.027075144	0.00835	0.02265294	0.00943	0.027075144	0.00835	-3.524	0.16826	T	.	.	0.069	0.05579	B	.;.	.;.	-0.821286	0.01066	0.046	0.39002238053180566	0.02665	0.02144	0.06313	N	AEFDBCI	0.049144	0.08460	N	-1.50470490199936	0.01819	0.07971962	-1.57174768521791	0.01830	0.08338396	0.953671379533322	0.28087	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.56	-5.58	0.02313	-1.882000	0.01716	.	.	-0.872000	0.02536	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2533:0.1484:0.3082:0.2901	0.598	0.00691	970	0.06235	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1961.43	34	chr8	144040597	.	A	G	1961.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.54;DP=503;ExcessHet=0;FS=2.539;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=-0.365;SOR=0.617	GT:AD:DP:GQ:PL	0/1:99,86:185:99:1973,0,2232	9	0	1	0
chr9	17085	17085	C	T	exonic	WASHC1	.	nonsynonymous SNV	WASHC1:NM_001378090:exon7:c.G763A:p.G255S,WASHC1:NM_182905:exon7:c.G763A:p.G255S	.	532	986	3	1	0	5	0.00252908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	0.000399361	0.0033	0.0023	0.0014	0.0010	0.0024	0.0044	0.0016	0.0024	0.002128	329	154602	rs199659819	0.0013	0.0017	0.0012	0.0014	0.0019	0.0013	0.0013	0.0017	0.0016	0.0004	0.0006	0.0014	0.0003	0.0028	0.0013	0.0013	0.0015	0.0019	0.0013	0.0019	0.0013	0.0013	0.0021	0.0011	0.0011	0.0015	0.0014	0.0006	0	0.0007	0.0026	0	0.0012	0.0045	0.0018	0	0.0021	.	.	.	0.014	0.62352	D	1.0	0.90584	D	0.998	0.88582	D	.	.	.	.	.	.	.	3.49	0.92661	M	.	.	.	.	.	.	0.914	0.91621	.	.	.	.	.	.	.	0.26174238	0.43636	T	.	.	.	.	.	.	.	0.232513804876	0.22884	0.7356777179126428	0.73512	.	.	0.536515474319	0.43954	T	0.300206	0.67271	T	-0.0603366	0.42855	T	0.0227257	0.71805	D	.	.	.	0.824218	0.48580	T	0.052217238	0.09705	0.24027686	0.49397	0.052217238	0.09704	0.24027686	0.49396	-8.534	0.64654	D	.	.	0.161	0.35602	B	.	.	3.881178	0.56413	23.7	0.93954767271387951	0.24018	0.69122	0.34064	D	AEFI	.	.	.	.	.	.	.	.	.	0.0426668246593986	0.14536	0.294411	0.05044	0	0.332522	0.05826	0	0.277913	0.05378	0	0.347871	0.05795	0	0.762712	0.45224	1.16	1.16	0.19936	3.960000	0.56459	0.172000	0.15530	0.288000	0.18739	0.998000	0.41325	0.000000	0.08366	0.334000	0.25294	0.0:1.0:0.0:0.0	8.303	0.31183	982	0.03397	WASH1, WAHD 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	0.000648	0.000000	0.000000	0.000000	0.000000	0.009091	0.000000	0.000000	0.1	1030.78	19	chr9	17085	.	C	T	1030.78	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.61;DP=189;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1263;MLEAC=2;MLEAF=0.1;MQ=38.08;MQRankSum=0.201;QD=29.45;ReadPosRankSum=2;SOR=1.214	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,11:13:51:0|1:17060_C_A:338,0,51:17060	8	0	2	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1776.96	33	chr9	117371	.	C	*	1776.96	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.714;DP=213;ExcessHet=1.0516;FS=0;InbreedingCoeff=-0.0101;MLEAC=5;MLEAF=0.25;MQ=46.25;MQRankSum=-3.333;QD=10.97;ReadPosRankSum=-0.128;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,9:20:99:0|1:117366_C_CCG:345,0,435:117366	5	0	5	0
chr9	14116328	14116328	C	G	exonic	NFIB	.	nonsynonymous SNV	NFIB:NM_001282787:exon8:c.G508C:p.V170L,NFIB:NM_001190737:exon9:c.G1264C:p.V422L,NFIB:NM_001369458:exon9:c.G1330C:p.V444L,NFIB:NM_001369459:exon9:c.G1330C:p.V444L,NFIB:NM_001369460:exon9:c.G1252C:p.V418L,NFIB:NM_001369461:exon9:c.G1264C:p.V422L,NFIB:NM_001369463:exon9:c.G1252C:p.V418L,NFIB:NM_001369465:exon9:c.G1237C:p.V413L,NFIB:NM_001369470:exon9:c.G1027C:p.V343L	.	422	1095	1	0	4	5	0.000456413	.	.	.	2477064	NFIB-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.128	0.0161905154602	.	0.000399361	0.0015	0	0	0	0.0012	0.0025	0	0.0012	0.0005757	89	154602	rs72698746	0.0028	0.0026	0.0029	0.0026	0.0033	0.0027	0.0027	0.0033	0.0032	0.0006	0.0002	4.188e-05	0	0.0009	0.0005	0.0033	0.0019	0.0006	0.0018	0.0018	0.0019	0.0016	0.0034	0.0016	0.0015	0.0031	0.0029	0.0004	0	0.0004	0	0	0.0005	0.0034	0.0034	0.0009	0.0008	0.208	0.19782	T	0.321	0.19073	T	.	.	.	.	.	.	0.000001	0.62929	D	0.055955	0.999988	0.81001	D	.	.	.	0.68	0.51952	T	-0.19	0.11185	N	0.454	0.49146	-1.0584	0.12159	T	0.103	0.38069	T	10	0.01411134	0.00297	T	0.016191	0.37323	T	0.128	0.35103	0.428	0.47515	0.128874641272	0.12493	0.24784222349546148	0.24698	1.10474106338	0.77854	0.782310962677	0.79275	T	0.01409	0.12064	T	-0.378648	0.03178	T	-0.308717	0.43797	T	0.0533436128814779	0.06078	T	0.819218	0.51077	T	.	.	.	.	.	.	.	.	-3.243	0.13013	T	.	.	0.200	0.48240	B	.;.;.;.;.;.	.;.;.;.;.;.	4.777721	0.77400	26.7	0.99316180532571674	0.59204	0.99613	0.97991	D	AEFGBI	0.904707	0.85533	D	0.122241131694498	0.47503	2.975025	0.28276738097025	0.54532	3.618022	0.999999999385736	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.608884	0.39905	0	0.711	0.71501	0	.	.	5.93	5.04	0.67293	7.470000	0.79974	6.021000	0.52793	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9326:0.0:0.0674	15.130	0.72188	555	0.71762	.;.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1102.43	34	chr9	14116328	.	C	G	1102.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.943;DP=401;ExcessHet=0;FS=2.01;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.599;SOR=1.022	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1114,0,1050	9	0	1	0
chr9	17394996	17394996	C	T	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.C2542T:p.H848Y,CNTLN:NM_017738:exon15:c.C2542T:p.H848Y	.	426	1078	15	3	0	21	0.0096463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	.	0.0057	0.00359425	0.0058	0.0004	0.0038	0	0.0127	0.0079	0.0089	0.0024	0.0058279	901	154602	rs144166918	0.0068	0.0068	0.0069	0.0066	0.0071	0.0067	0.0066	0.0069	0.0069	0.0009	0.0051	0.0203	2.519e-05	0.0116	0.0061	0.0071	0.0059	0.0031	0.0052	0.0052	0.0050	0.0054	0.0069	0.0049	0.0048	0.0059	0.0055	0.0007	0	0.0069	0.0202	0	0.0144	0.0136	0.0062	0.0038	0.0017	0.014	0.53172	D	0.044	0.49663	D	0.264	0.31602	B	0.055	0.25995	B	.	.	.	.	0.95295	0.37808	D	2.43	0.70455	M	2.21	0.18414	T	-1.33	0.33197	N	0.436	0.47487	-1.1197	0.02350	T	0.066	0.27364	T	9	0.005052775	0.00109	T	.	.	.	0.097	0.27909	.	.	0.0611884634855	0.05136	0.08164205980192901	0.08099	.	.	0.426689594984	0.28755	T	.	.	.	-0.404872	0.02151	T	-0.348657	0.39359	T	0.0438886258736104	0.04401	T	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-5.253	0.39476	T	.	.	0.175	0.38281	B	.	.	4.184124	0.63012	24.5	0.99773894908934191	0.86174	0.93785	0.59184	D	AEFBI	0.523727	0.54721	D	0.423311050390687	0.62706	4.491064	0.530791572137921	0.70071	5.451773	0.99999999363096	0.74766	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	5.93	0.95888	6.601000	0.74015	7.731000	0.67736	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.942	0.97166	651	0.62880	.	.	.	.	.	.	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	0.005539	0.000000	0.002717	0.002924	0.000000	0.025862	0.006098	0.011364	0.05	495.43	41	chr9	17394996	.	C	T	495.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.08;DP=484;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.402;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,21:51:99:0|1:17394996_C_T:507,0,1186:17394996	9	0	1	0
chr9	19116272	19116272	C	A	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon8:c.G1290T:p.Q430H	.	430	1091	0	1	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00653634204652	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.014	0.62352	D	0.009	0.15093	B	0.004	0.10090	B	0.011797	0.01317	N	3.404500	1	0.08975	N	1.7	0.43825	L	3.84	0.03675	T	-0.49	0.15578	N	0.141	0.14054	-0.9691	0.37386	T	0.015	0.06282	T	10	0.06954703	0.09993	T	0.006536	0.17215	T	0.093	0.26882	0.031	0.00008	0.187945064343	0.18414	0.39774504268235733	0.39689	0.0683332490101	0.07650	0.225531488657	0.01654	T	0.206579	0.56597	T	-0.272206	0.11512	T	-0.628782	0.10506	T	0.144211338081374	0.16633	T	0.456654	0.13107	T	0.03380936	0.03675	0.041194964	0.04627	0.03380936	0.03674	0.041194964	0.04627	-4.423	0.29867	T	.	.	0.109	0.20896	B	.	.	1.675947	0.21365	15.17	0.96391920325101244	0.29658	0.57583	0.30415	D	AEFDGBCI	0.284662	0.39747	N	-0.755900022878594	0.14473	0.7212543	-0.752002959283515	0.15673	0.8254652	0.999999704061571	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	5.25	1.78	0.23918	0.653000	0.24588	0.079000	0.14366	0.599000	0.40250	0.017000	0.19353	0.002000	0.18203	0.113000	0.18872	0.2555:0.3547:0.0:0.3898	1.970	0.03197	664	0.61548	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	667.43	36	chr9	19116272	.	C	A	667.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.092;DP=374;ExcessHet=0;FS=0.97;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.94;ReadPosRankSum=2.1;SOR=0.536	GT:AD:DP:GQ:PL	0/1:32,29:61:99:679,0,952	9	0	1	0
chr9	20881958	20881958	C	T	exonic	FOCAD	.	nonsynonymous SNV	FOCAD:NM_001375568:exon19:c.C2300T:p.A767V,FOCAD:NM_001375570:exon19:c.C2300T:p.A767V,FOCAD:NM_001375567:exon20:c.C2405T:p.A802V,FOCAD:NM_017794:exon22:c.C2405T:p.A802V	.	435	1085	2	0	0	2	0.00092081	.	.	.	3006662	not_provided|FOCAD-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.037	0.00308836486452	0.0038	0.00219649	0.0032	0.0010	0.0006	0	0.0048	0.0047	0.0033	0.0013	0.0032988	510	154602	rs79849792	0.0043	0.0043	0.0043	0.0043	0.0050	0.0042	0.0042	0.0049	0.0049	0.0009	0.0007	0.0003	2.52e-05	0.0049	0.0003	0.0050	0.0034	0.0015	0.0032	0.0032	0.0033	0.0031	0.0057	0.0030	0.0029	0.0052	0.0051	0.0007	0	0.0009	0.0006	0	0.0041	0	0.0057	0.0033	0.0021	0.4	0.10482	T	1.0	0.01155	T	.	.	.	.	.	.	0.950673	0.07654	N	1.019870	1	0.08975	N	.	.	.	3.21	0.07125	T	-0.71	0.20145	N	0.088	0.10198	-0.9264	0.44659	T	0.012	0.04558	T	10	0.0031612515	0.00053	T	0.003088	0.06696	T	0.037	0.09474	.	.	0.0401082797425	0.02173	0.2831463635393905	0.28227	0.00576713169931	0.00504	0.235915049911	0.02434	T	0.015573	0.13037	T	-0.759268	0.00015	T	-0.859686	0.00846	T	0.00128080978368973	0.00013	T	0.565643	0.19997	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01859	B	.;.;.	.;.;.	0.554943	0.09233	6.017	0.93441065259456846	0.23218	0.04944	0.10704	N	AEFBI	0.040645	0.06074	N	-1.04558351606797	0.07675	0.3573183	-0.998740363505952	0.09813	0.4904374	0.663225487454854	0.22294	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.82	-0.624	0.10972	0.224000	0.17520	0.021000	0.13590	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.796000	0.37562	0.0:0.328:0.0:0.672	10.394	0.43374	564	0.70960	.;.;.	.	.	.	.	.	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	1	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	361.43	33	chr9	20881958	.	C	T	361.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.441;DP=353;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.33;ReadPosRankSum=-0.991;SOR=0.582	GT:AD:DP:GQ:PL	0/1:17,18:35:99:373,0,405	9	0	1	0
chr9	26947025	26947025	C	A	exonic	PLAA	.	nonsynonymous SNV	PLAA:NM_001031689:exon1:c.G21T:p.R7S,PLAA:NM_001321546:exon1:c.G21T:p.R7S	.	424	1096	2	0	0	2	0.000911577	.	.	.	1355161	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.088	0.0103673828459	.	.	0.0004	0	0	0	0	5.782e-05	0.0037	0.0017	0.0001229	19	154602	rs535078633	9.476e-05	9.919e-05	6.91e-05	0.0001	0.0011	8.174e-05	7.658e-05	0.0009	0.0009	0	0	0	0	0	0	3.456e-05	0.0001	0.0011	3.282e-05	3.28e-05	2.569e-05	4.026e-05	0.0006	1.26e-05	7.97e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0006	0.758	0.04379	T	0.821	0.03968	T	0.0	0.02946	B	0.0	0.01387	B	0.172340	0.17338	N	0.634004	0.805068	0.34563	D	0.255	0.09829	N	0.57	0.54347	T	0.8	0.01978	N	0.239	0.38335	-1.0519	0.13872	T	0.058	0.24465	T	10	0.022800535	0.00579	T	0.010367	0.26828	T	0.088	0.25558	0.348	0.34436	0.430247255452	0.42646	0.2979346367764344	0.29706	1.49482122049	0.86938	0.571303963661	0.48863	T	0.019746	0.15676	T	-0.414205	0.01864	T	-0.408286	0.32422	T	0.0540160322908074	0.06191	T	0.708229	0.32156	T	0.11885019	0.27995	0.062072106	0.12086	0.11885019	0.27994	0.062072106	0.12086	-2.748	0.07715	T	0.05081105098621103	0.00899	0.111	0.25495	B	.;.	.;.	1.741944	0.22164	15.51	0.97284308587291901	0.33200	0.24189	0.22316	N	ALL	0.077288	0.15567	N	-0.629683669231485	0.18057	0.9343951	-0.437788716189688	0.23898	1.30567	0.999999982266631	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.33	2.37	0.28337	0.094000	0.14946	0.795000	0.21604	0.531000	0.24825	0.984000	0.35821	0.999000	0.35428	0.983000	0.59808	0.24:0.3525:0.2476:0.16	1.453	0.02236	509	0.75304	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1108.43	35	chr9	26947025	.	C	A	1108.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.857;DP=407;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=-0.45;SOR=0.627	GT:AD:DP:GQ:PL	0/1:39,49:88:99:1120,0,899	9	0	1	0
chr9	32632083	32632083	T	C	exonic	TAF1L	.	nonsynonymous SNV	TAF1L:NM_153809:exon1:c.A3497G:p.D1166G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00250695143186	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs772948085	6.84e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.011	0.64786	D	0.945	0.53279	P	0.621	0.51426	P	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	2.545	0.74286	M	2.06	0.20523	T	-3.29	0.65742	D	0.38	0.42149	-1.1102	0.03053	T	0.048	0.20355	T	10	0.3183853	0.49237	T	0.002507	0.05009	T	0.092	0.26621	0.292	0.25400	0.508994031223	0.50540	0.5128257355736089	0.51204	0.224960025971	0.25034	0.572577953339	0.49041	T	0.146569	0.48423	T	-0.218929	0.18139	T	-0.455398	0.27101	T	0.734108030796051	0.42424	D	0.933207	0.74971	D	0.27684668	0.50744	0.2090441	0.45233	0.27684668	0.50744	0.2090441	0.45232	-6.622	0.51221	T	.	.	0.085	0.10208	B	.	.	3.418495	0.47452	22.5	0.98749333949723916	0.45633	0.56687	0.30181	D	AEFDGBI	0.318523	0.42219	N	-0.115893215448414	0.36701	2.124927	-0.269284493234922	0.29116	1.628701	0.999987714634145	0.51787	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	0.479	0.479	0.16007	5.100000	0.64395	7.720000	0.67265	0.266000	0.18458	1.000000	0.71638	1.000000	0.68203	0.108000	0.18652	0.0:1.0E-4:0.0:0.9999	5.196	0.14561	836	0.38045	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	7490.14	43	chr9	32632083	.	T	C	7490.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.3;DP=1152;ExcessHet=0.2348;FS=0.523;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.99;MQRankSum=0;QD=10.55;ReadPosRankSum=1.26;SOR=0.638	GT:AD:DP:GQ:PL	0/1:239,170:409:99:3879,0,5922	8	0	2	0
chr9	33385707	33385707	G	A	exonic	AQP7	.	nonsynonymous SNV	AQP7:NM_001318156:exon6:c.C514T:p.R172W,AQP7:NM_001170:exon7:c.C685T:p.R229W,AQP7:NM_001318157:exon7:c.C682T:p.R228W,AQP7:NM_001318158:exon7:c.C685T:p.R229W,AQP7:NM_001376192:exon7:c.C685T:p.R229W,AQP7:NM_001376191:exon8:c.C685T:p.R229W,AQP7:NM_001376193:exon8:c.C685T:p.R229W	.	400	1121	1	0	0	1	0.000445831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0556443499188	.	.	8.244e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs780270047	1.095e-05	1.163e-05	5.446e-06	1.65e-05	8.117e-05	6.48e-06	5.25e-06	3.766e-05	2.662e-05	0	0	0	2.519e-05	0	0	6.295e-06	1.657e-05	8.117e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.59928	D	0.0	0.92824	D	0.993	0.65571	D	0.876	0.62173	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-2.59	0.89822	D	-7.23	0.94647	D	0.967	0.99670	0.894	0.95597	D	0.869	0.95650	D	10	0.983021	0.98414	D	0.055644	0.66311	D	0.798	0.93385	0.932	0.98960	0.957236149316	0.95678	.	.	0.208655571552	0.23333	0.628125548363	0.56879	T	0.85264	0.98749	D	0.418009	0.90915	D	0.362665	0.90801	D	0.985361278057098	0.76380	D	0.914409	0.77406	D	0.95482266	0.96755	0.87697804	0.93351	0.95482266	0.96756	0.87697804	0.93351	-14.072	0.93288	D	.	.	0.698	0.80723	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.028375	0.83620	28.1	0.9990724773047841	0.97726	0.81915	0.41226	D	AEFBI	0.886099	0.81719	D	0.743709486971878	0.82493	7.776548	0.623892025242675	0.76680	6.535628	0.985140848964622	0.30836	0.568482	0.32641	0	0.55458	0.17659	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.04	4.07	0.46726	1.586000	0.36221	7.180000	0.57747	0.669000	0.69127	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.7051:0.2949	10.023	0.41227	522	0.74218	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1745.43	39	chr9	33385707	.	G	A	1745.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.86;DP=505;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.96;MQRankSum=-1.076;QD=10.51;ReadPosRankSum=-0.661;SOR=0.742	GT:AD:DP:GQ:PL	0/1:90,76:166:99:1757,0,1927	9	0	1	0
chr9	34311196	34311196	G	A	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.C151T:p.R51C	.	439	1082	1	0	0	1	0.000461894	.	.	.	737109	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.330	.	0.0078	0.0061901	0.0025	0.0272	0.0017	0.0001	0.0002	0.0001	0.0012	0.0001	0.0022121	342	154602	rs111556715	0.0008	0.0008	0.0009	0.0007	0.0255	0.0008	0.0007	0.0240	0.0235	0.0255	0.0016	0	2.519e-05	3.746e-05	0.0010	0.0001	0.0016	0.0001	0.0069	0.0069	0.0070	0.0068	0.0244	0.0066	0.0064	0.0232	0.0227	0.0244	0	0.0014	0	0	0.0002	0.0068	7.353e-05	0.0038	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.001016	0.40652	N	0.000000	0.999866	0.52935	D	1.04	0.26193	L	2.58	0.13434	T	-5.6	0.89985	D	0.666	0.67477	-1.1651	0.00640	T	0.027	0.11397	T	10	0.009183645	0.00207	T	.	.	.	0.330	0.65226	.	.	0.772208786841	0.77012	0.7323753136800658	0.73182	.	.	0.72260928154	0.70427	T	0.157446	0.50005	T	-0.420628	0.01694	T	-0.358056	0.38278	T	0.0585444750364075	0.06937	T	0.964704	0.86917	D	0.5763813	0.71410	0.5984375	0.76678	0.5763813	0.71411	0.5984375	0.76679	-10.076	0.74366	D	.	.	0.471	0.73095	A	.;.	.;.	5.277315	0.88614	29.7	0.99940592645256632	0.99767	0.96378	0.68846	D	AEFBI	0.774573	0.70824	D	0.675636878474257	0.78035	6.791357	0.707150885026823	0.82922	7.888542	0.999999999942524	0.74766	0.615465	0.37627	0	0.546412	0.12157	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.48	5.48	0.80675	7.272000	0.77907	9.877000	0.82171	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.350	0.94368	227	0.91186	Sterile alpha motif domain|Sterile alpha motif 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	0	0	1	0	0.005035	0.005051	0.009511	0.002924	0.000000	0.008621	0.000000	0.000000	0.1	1992.14	43	chr9	34311196	.	G	A	1992.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.74;DP=493;ExcessHet=0.2348;FS=0.565;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=1.2;SOR=0.768	GT:AD:DP:GQ:PL	0/1:39,27:66:99:730,0,930	8	0	2	0
chr9	37711385	37711385	G	A	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon5:c.G398A:p.R133H,FRMPD1:NM_001371225:exon5:c.G398A:p.R133H,FRMPD1:NM_014907:exon5:c.G398A:p.R133H,FRMPD1:NM_001371224:exon6:c.G398A:p.R133H	.	427	1074	20	1	0	22	0.0101382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	0.0016	0.00499201	0.0050	0.0002	0.0012	0	0.0097	0.0035	0.0044	0.0174	0.0043272	669	154602	rs140966026	0.0031	0.0032	0.0027	0.0036	0.0173	0.0031	0.0030	0.0165	0.0162	0.0002	0.0007	0.0272	5.042e-05	0.0097	0.0070	0.0013	0.0045	0.0173	0.0030	0.0030	0.0022	0.0038	0.0166	0.0028	0.0027	0.0137	0.0126	0.0003	0	0.0024	0.0245	0.0002	0.0106	0.0034	0.0018	0.0014	0.0166	0.04	0.42199	D	0.008	0.67890	D	1.0	0.90584	D	0.98	0.74843	D	0.000102	0.50451	D	0.126928	0.999999	0.58761	D	2.75	0.80375	M	0.56	0.54540	T	-0.46	0.14978	N	0.802	0.79792	-0.3916	0.72291	T	0.270	0.64193	T	10	0.010544717	0.00234	T	.	.	.	0.256	0.56694	.	.	0.852118958226	0.85069	0.6603132943390886	0.65968	0.65385711265	0.58498	0.652536511421	0.60346	T	0.010143	0.09188	T	-0.272517	0.11477	T	-0.149948	0.59248	T	0.0745650310130186	0.09277	T	0.863014	0.55864	D	0.077943295	0.17721	0.079483435	0.17896	0.077943295	0.17721	0.079483435	0.17895	-5.07	0.37590	T	.	.	0.279	0.51721	B	.;.	.;.	5.261493	0.88341	29.6	0.99948385802521578	0.99923	0.93011	0.57101	D	AEFBI	0.629839	0.61141	D	0.77566760609353	0.84564	8.322759	0.739514374306243	0.85372	8.560839	0.97591204178563	0.29676	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.31	5.31	0.75063	5.780000	0.68607	11.696000	0.94428	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	14.482	0.67172	798	0.45050	PDZ domain|PDZ domain;PDZ domain|PDZ 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	0.005539	0.000000	0.000000	0.002924	0.000000	0.017241	0.009146	0.015152	0.1	3607.14	33	chr9	37711385	.	G	A	3607.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=605;ExcessHet=0.2348;FS=2.462;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=-0.37;SOR=0.86	GT:AD:DP:GQ:PL	0/1:72,67:139:99:1600,0,1655	8	0	2	0
chr9	38424421	38424421	G	C	exonic	IGFBPL1	.	nonsynonymous SNV	IGFBPL1:NM_001007563:exon1:c.C4G:p.P2A	.	376	1141	4	1	0	6	0.00262238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0717911933153	.	0.000399361	0.0029	0	0	0	0	0	0	0.0041	0.0001746	27	154602	rs559592854	0.0003	0.0002	0.0001	0.0004	0.0023	0.0002	0.0002	0.0020	0.0019	0	0	0	0	0	0	3.788e-06	0.0002	0.0023	7.933e-05	7.879e-05	3.877e-05	0.0001	0.0021	4.522e-05	3.532e-05	0.0011	0.0009	0	0	6.576e-05	0	0	0	0	1.48e-05	0	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.916	0.50672	P	0.314	0.41528	B	.	.	.	.	0.987988	0.24459	N	0	0.06538	N	2.46	0.14907	T	-1.19	0.30346	N	0.069	0.04188	-1.0435	0.16265	T	0.021	0.08778	T	9	0.014130712	0.00298	T	0.071791	0.71363	D	0.050	0.13987	0.209	0.12639	0.284150004643	0.28039	0.3458642402397724	0.34500	0.232998309834	0.25837	0.684405684471	0.64901	T	0.007803	0.07183	T	-0.569317	0.00223	T	-0.597825	0.12993	T	0.0641240729241596	0.07800	T	0.277772	0.04791	T	0.21292384	0.43658	0.18325895	0.41305	0.21292384	0.43657	0.18325895	0.41304	-3.685	0.19097	T	.	.	0.067	0.02578	B	.	.	1.599289	0.20445	14.75	0.97272940145014775	0.33144	0.43648	0.27144	N	AEFDBHCIJ	0.051620	0.09138	N	-0.30024792848713	0.29140	1.613301	-0.310090551171214	0.27772	1.543425	0.999999998972598	0.74766	0.789315	0.99827	0	0.596491	0.49125	0	0.768056	0.98339	0	0.603991	0.37454	0	.	.	3.14	2.19	0.26890	0.232000	0.17670	0.791000	0.21569	0.487000	0.22268	0.845000	0.30364	0.999000	0.35428	0.387000	0.26492	0.1298:0.0:0.8702:0.0	8.348	0.31445	908	0.22609	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	519.43	37	chr9	38424421	.	G	C	519.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.03;DP=375;ExcessHet=0;FS=1.069;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=1.22;SOR=0.648	GT:AD:DP:GQ:PL	0/1:26,25:51:99:531,0,513	9	0	1	0
chr9	67901047	67901047	T	A	exonic	ANKRD20A1	.	nonsynonymous SNV	ANKRD20A1:NM_032250:exon15:c.T2052A:p.S684R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	0.00199681	0.0056	0	0	0	.	0	0	0.5	0.0003842	10	26028	rs538856468	0.0007	0.0008	0.0004	0.0010	0.0111	0.0006	0.0006	0.0105	0.0103	0	2.247e-05	0	2.521e-05	0	0	4.499e-06	0.0004	0.0111	0.0003	0.0004	0.0001	0.0006	0.0103	0.0002	0.0002	0.0080	0.0071	0	0	0	0	0	0	0	0	0	0.0103	.	.	.	0.004	0.74150	D	0.797	0.44809	P	0.089	0.29769	B	.	.	.	.	0.988718	0.24379	N	0.975	0.24501	L	.	.	.	.	.	.	0.071	0.04426	-1.0065	0.28004	T	0.020	0.08453	T	9	0.0017012954	0.00021	T	.	.	.	.	.	0.314	0.28935	0.304565745084	0.30068	0.011981185572043125	0.01157	.	.	0.897406160831	0.96148	D	0.011726	0.10420	T	-0.224255	0.17417	T	-0.559903	0.16386	T	0.0162289356369465	0.00396	T	0.339066	0.07293	T	0.09132613	0.21397	0.14647616	0.34701	0.09132613	0.21397	0.14647616	0.34700	-5.65	0.43246	T	.	.	0.364	0.57448	A	.	.	1.230643	0.16252	12.42	0.86332022078084225	0.16466	0.01641	0.05281	N	AEFI	0.040640	0.06074	N	-0.70530392612986	0.15872	0.8037847	-0.824504044449607	0.13901	0.7236671	1.11967004987485E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.113707	0.03433	3	.	.	1.88	0.395	0.15527	-1.204000	0.03127	-3.886000	0.02473	0.292000	0.18798	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2602:0.0:0.0:0.7398	5.118	0.14176	994	0.00715	CCDC144C-like, coiled-coil 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	.	.	.	.	.	.	.	.	0.05	538.43	41	chr9	67901047	.	T	A	538.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.464;DP=466;ExcessHet=0;FS=4.152;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=33.27;MQRankSum=1.61;QD=5.28;ReadPosRankSum=0.397;SOR=0.374	GT:AD:DP:GQ:PL	0/1:70,32:102:99:550,0,1704	9	0	1	0
chr9	77323120	77323120	C	T	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon44:c.C5767T:p.R1923C,VPS13A:NM_001018038:exon45:c.C5884T:p.R1962C,VPS13A:NM_015186:exon45:c.C5884T:p.R1962C,VPS13A:NM_033305:exon45:c.C5884T:p.R1962C	Choreoacanthocytosis, Autosomal recessive	1	1514	7	0	0	7	0.00230643	.	.	.	319225	VPS13A-related_disorder|Chorea-acanthocytosis|not_specified|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.059	.	0.0046	0.00319489	0.0035	0.0013	0.0036	0.0001	0.0034	0.0050	0.0044	0.0006	0.003771	583	154602	rs149694033	0.0051	0.0051	0.0052	0.0049	0.0059	0.0050	0.0049	0.0058	0.0058	0.0010	0.0038	0.0015	5.044e-05	0.0030	0.0028	0.0059	0.0051	0.0009	0.0039	0.0039	0.0040	0.0038	0.0061	0.0037	0.0036	0.0056	0.0054	0.0010	0	0.0056	0.0012	0	0.0030	0.0068	0.0061	0.0085	0.0006	0.032	0.46129	D	0.169	0.34716	T	0.207	0.48223	B	0.04	0.45421	B	0.003255	0.35212	N	0.253760	0.999562	0.47592	D	1.785	0.46417	L	0.83	0.52867	T	-4.86	0.82764	D	0.357	0.39861	-1.0980	0.04341	T	0.052	0.21999	T	10	0.0094463825	0.00213	T	.	.	.	0.059	0.16972	.	.	0.600958532112	0.59777	0.6833365773300184	0.68272	0.177594186606	0.19982	0.464377254248	0.33910	T	0.790415	0.94549	D	-0.402666	0.02224	T	-0.346051	0.39658	T	0.0398385137480339	0.03662	T	0.937406	0.76468	D	0.19826503	0.41722	0.1963397	0.43359	0.21314391	0.43685	0.15810932	0.36937	-6.963	0.56785	T	.	.	0.095	0.15070	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.988651	0.39896	21.1	0.99896104805483166	0.96895	0.74298	0.36345	D	AEFGI	0.231237	0.35450	N	-0.151437685859879	0.35174	2.017003	-0.0583979840365752	0.37128	2.169836	0.018329195011994	0.13045	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.85	2.91	0.32903	1.126000	0.30958	0.612000	0.20040	0.599000	0.40250	0.977000	0.34929	0.225000	0.23742	0.956000	0.50813	0.5154:0.3475:0.0:0.1371	4.571	0.11603	868	0.31772	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.006042	0.015152	0.008152	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	575.43	34	chr9	77323120	.	C	T	575.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.082;DP=361;ExcessHet=0;FS=1.097;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.812;SOR=0.906	GT:AD:DP:GQ:PL	0/1:23,26:49:99:587,0,496	9	0	1	0
chr9	83062666	83062666	C	T	exonic	RASEF	.	nonsynonymous SNV	RASEF:NM_152573:exon1:c.G202A:p.A68T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0587195836828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.40319	T	0.368	0.33109	T	0.958	0.90584	D	0.535	0.68407	P	0.001963	0.37549	N	0.226336	0.934676	0.37095	D	1.575	0.39704	L	1.47	0.31987	T	0.14	0.17417	N	0.381	0.44474	-0.9342	0.43515	T	0.124	0.42862	T	10	0.35876632	0.52561	T	0.05872	0.67417	D	0.102	0.29158	0.279	0.23323	0.435699915968	0.43186	0.35656757021086183	0.35570	0.552243147408	0.52039	0.832978963852	0.87019	D	0.028917	0.20835	T	-0.164444	0.26079	T	-0.473989	0.25089	T	0.886416435241699	0.53682	D	0.806719	0.45805	T	0.29959255	0.52869	0.18739627	0.41968	0.29959255	0.52868	0.18739627	0.41967	-2.352	0.26476	T	.	.	0.205	0.46331	B	.;.	.;.	3.715889	0.53073	23.3	0.9979247070006797	0.87839	0.77520	0.38124	D	AEFDBHCIJ	0.351514	0.44459	N	0.183377772703602	0.50400	3.230456	0.1681062279393	0.48110	3.031375	0.999999999969122	0.74766	0.652421	0.48094	0	0.573888	0.26702	0	0.64067	0.45733	0	0.554799	0.18163	0	.	.	4.72	4.72	0.59248	2.815000	0.47717	4.347000	0.43075	0.450000	0.21304	1.000000	0.71638	1.000000	0.68203	0.194000	0.21720	0.0:1.0:0.0:0.0	17.686	0.88161	953	0.10115	EF-hand domain|EF-hand domain|EF-hand domain|EF-hand 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	.	.	.	.	.	.	.	.	0.05	1671.43	40	chr9	83062666	.	C	T	1671.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.153;DP=465;ExcessHet=0;FS=2.964;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=1.5;SOR=0.955	GT:AD:DP:GQ:PL	0/1:68,75:143:99:1683,0,1454	9	0	1	0
chr9	83939567	83939567	G	A	exonic	C9orf64	.	nonsynonymous SNV	C9orf64:NM_032307:exon4:c.C970T:p.H324Y,C9orf64:NM_001317997:exon5:c.C547T:p.H183Y	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00635122131194	0.0013	0.000599042	0.0015	0.0007	0.0003	0.0001	0.0003	0.0022	0.0011	0.0008	0.0014748	228	154602	rs145133489	0.0022	0.0022	0.0021	0.0022	0.0026	0.0021	0.0021	0.0025	0.0025	0.0003	0.0005	3.826e-05	0	0.0005	0.0012	0.0026	0.0015	0.0012	0.0015	0.0015	0.0015	0.0016	0.0028	0.0014	0.0013	0.0025	0.0024	0.0005	0	0.0012	0	0	9.432e-05	0	0.0028	0.0009	0.0006	0.184	0.21634	T	0.324	0.22084	T	0.151	0.28027	B	0.077	0.28532	B	0.000000	0.84330	D	0.048217	0.999998	0.58761	D	.	.	.	.	.	.	-2.76	0.65858	D	0.35	0.39153	-1.0182	0.24301	T	0.112	0.40052	T	9	0.011564493	0.00252	T	0.006351	0.16696	T	0.143	0.38195	.	.	0.305730143919	0.30178	0.8313667699374903	0.83095	0.490409126362	0.47766	.	.	.	0.047888	0.32171	T	-0.305758	0.08128	T	-0.205437	0.54130	T	0.0280259099603527	0.01691	T	0.788521	0.42806	T	0.30710843	0.53535	0.33125296	0.58986	0.30710843	0.53535	0.33125296	0.58986	-5.29	0.39844	T	.	.	0.133	0.28778	B	.;.	.;.	3.966575	0.58211	24.0	0.98192822149566383	0.39053	0.97195	0.73250	D	AEFBI	0.818925	0.74006	D	-0.0686166156842113	0.38775	2.27622	0.148965412128061	0.47087	2.944289	0.998646473739163	0.37371	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.39	5.39	0.77615	6.771000	0.74791	11.614000	0.93566	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0749:0.0:0.9251:0.0	12.848	0.57225	961	0.08552	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	2029.43	33	chr9	83939567	.	G	A	2029.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.13;DP=480;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.08;ReadPosRankSum=-0.581;SOR=0.731	GT:AD:DP:GQ:PL	0/1:81,87:168:99:2041,0,1948	9	0	1	0
chr9	85547151	85547151	T	G	exonic	AGTPBP1	.	nonsynonymous SNV	AGTPBP1:NM_001286715:exon25:c.A3795C:p.E1265D,AGTPBP1:NM_001286717:exon25:c.A3675C:p.E1225D,AGTPBP1:NM_001330701:exon26:c.A3639C:p.E1213D,AGTPBP1:NM_015239:exon26:c.A3519C:p.E1173D	.	436	1065	21	0	0	21	0.0097629	.	.	.	2826179	not_provided|AGTPBP1-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.031	0.00355621111511	0.0048	0.00299521	0.0048	0.0008	0.0042	0	0.0009	0.0071	0.0077	0.0021	0.0048835	755	154602	rs138412470	0.0057	0.0057	0.0058	0.0056	0.0134	0.0056	0.0056	0.0110	0.0101	0.0010	0.0053	0.0068	2.527e-05	0.0009	0.0134	0.0064	0.0068	0.0021	0.0041	0.0041	0.0045	0.0038	0.0069	0.0039	0.0038	0.0064	0.0062	0.0011	0	0.0042	0.0058	0.0002	0.0008	0.0068	0.0069	0.0057	0.0021	0.578	0.06891	T	1.0	0.01155	T	0.0	0.09854	B	0.001	0.10090	B	0.000653	0.42656	D	0.237618	0.739208	0.81001	D	-0.745	0.01742	N	2.33	0.16492	T	0.04	0.06488	N	0.086	0.06322	-0.9918	0.32141	T	0.010	0.03765	T	10	0.0020323396	0.00029	T	0.003556	0.08092	T	0.031	0.07369	0.095	0.01241	0.210429274316	0.20668	0.06835794157517444	0.06773	0.0499190563803	0.05480	0.397492229939	0.24720	T	0.044675	0.26888	T	-0.684849	0.00045	T	-0.75237	0.03395	T	0.00168903351854802	0.00017	T	0.784022	0.42156	T	0.051265713	0.09390	0.05631082	0.10038	0.05875675	0.11859	0.039692342	0.04121	-3.78	0.20581	T	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	1.274184	0.16732	12.73	0.9036468242379625	0.19628	0.65813	0.32864	D	AEFGI	0.109382	0.21727	N	-0.567870922523877	0.19926	1.046693	-0.339500698144633	0.26835	1.484911	0.33460800686151	0.19521	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.03	2.29	0.27658	0.311000	0.19129	0.814000	0.21781	0.665000	0.62972	0.932000	0.32345	0.875000	0.27637	0.993000	0.69303	0.1833:0.0:0.2101:0.6066	6.560	0.21680	951	0.11083	.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.008569	0.000000	0.009511	0.014706	0.050000	0.000000	0.009146	0.011364	0.05	1309.43	33	chr9	85547151	.	T	G	1309.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.544;DP=432;ExcessHet=0;FS=0.672;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=-1.045;SOR=0.774	GT:AD:DP:GQ:PL	0/1:61,64:125:99:1321,0,1506	9	0	1	0
chr9	89001700	89001700	C	T	exonic	S1PR3	.	nonsynonymous SNV	S1PR3:NM_005226:exon2:c.C500T:p.T167M	.	422	1083	17	0	0	17	0.00778745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	0.0022	0.00139776	0.0053	0.0006	0.0013	0	0.0206	0.0056	0.0110	0.0061	0.0045989	711	154602	rs41287347	0.0035	0.0035	0.0033	0.0036	0.0066	0.0034	0.0034	0.0061	0.0059	0.0005	0.0019	0.0100	0	0.0197	0.0066	0.0025	0.0039	0.0066	0.0037	0.0037	0.0027	0.0046	0.0048	0.0034	0.0033	0.0033	0.0028	0.0004	0	0.0012	0.0112	0	0.0232	0.0102	0.0030	0.0028	0.0048	0.012	0.54683	D	0.08	0.41913	T	0.914	0.50529	P	0.318	0.41660	B	0.064011	0.21983	N	0.453721	1	0.08975	N	0.55	0.14455	N	1.2	0.37405	T	1.03	0.01350	N	0.141	0.14763	-1.0749	0.08369	T	0.055	0.23186	T	10	0.007697046	0.00175	T	.	.	.	0.052	0.14661	.	.	0.595389996124	0.59217	0.4285408765478264	0.42771	0.819455966985	0.67094	0.455557107925	0.32703	T	0.036818	0.24246	T	-0.498314	0.00584	T	-0.485958	0.23815	T	0.0127413518071339	0.00215	T	0.907809	0.67374	D	0.03762388	0.04859	0.05996719	0.11343	0.03762388	0.04859	0.05996719	0.11342	-5.116	0.38075	T	.	.	0.089	0.12181	B	.;.	.;.	1.799461	0.22873	15.80	0.99173083875404244	0.54441	0.33857	0.24929	N	AEFDGBCIJ	0.124550	0.24065	N	-0.20999165311127	0.32724	1.848587	-0.289747021831024	0.28435	1.585462	0.99999975762062	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	5.41	3.58	0.40133	2.139000	0.41773	2.094000	0.30565	0.599000	0.40250	0.042000	0.21073	0.688000	0.26159	0.334000	0.25294	0.0:0.8584:0.0:0.1416	11.716	0.50919	734	0.53889	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.008560	0.000000	0.014946	0.008772	0.000000	0.000000	0.006098	0.015152	0.05	2191.43	33	chr9	89001700	.	C	T	2191.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.232;DP=523;ExcessHet=0;FS=1.69;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=0.727;SOR=0.576	GT:AD:DP:GQ:PL	0/1:118,92:210:99:2203,0,2956	9	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	7760.04	386	chr9	92080918	.	G	C	7760.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.684;DP=3889;ExcessHet=22.563;FS=438.653;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.08;SOR=14.782	GT:AD:DP:GQ:PL	0/1:251,143:428:99:748,0,4003	0	0	10	0
chr9	96818552	96818552	A	C	exonic	ZNF782	.	nonsynonymous SNV	ZNF782:NM_001346993:exon4:c.T1399G:p.S467A,ZNF782:NM_001346995:exon4:c.T1075G:p.S359A,ZNF782:NM_001346991:exon5:c.T1471G:p.S491A,ZNF782:NM_001001662:exon6:c.T1471G:p.S491A	.	373	1136	13	0	0	13	0.00568928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	0.0007	0.033147	0.0180	0.0011	0.0012	0.1114	0.0416	0.0028	0.0231	0.0434	0.0161059	2490	154602	rs75989782	0.0076	0.0076	0.0067	0.0084	0.0955	0.0074	0.0074	0.0929	0.0919	0.0005	0.0004	0.0023	0.0955	0.0397	0.0029	0.0008	0.0106	0.0408	0.0092	0.0092	0.0063	0.0122	0.1030	0.0088	0.0086	0.0957	0.0929	0.0009	0	0.0005	0.0026	0.1030	0.0468	0	0.0013	0.0071	0.0439	0.032	0.44694	D	0.232	0.24987	T	0.868	0.47740	P	0.504	0.47761	P	0.014575	0.28493	N	0.000000	1	0.08975	N	0.81	0.20779	L	4.77	0.01563	T	-2.44	0.53420	N	0.109	0.13911	-1.0832	0.06739	T	0.004	0.01226	T	10	0.0018583536	0.00025	T	.	.	.	0.090	0.26093	.	.	.	.	0.015911493892009146	0.01547	0.228792034998	0.25434	0.652195334435	0.60297	T	0.00863	0.07910	T	-0.607898	0.00130	T	-0.549263	0.17397	T	0.0215779178595742	0.00862	T	0.643236	0.25495	T	0.16147868	0.36160	0.123323925	0.29739	0.16147868	0.36160	0.123323925	0.29738	-6.973	0.53836	T	.	.	0.373	0.58646	A	.;.	.;.	3.650464	0.51811	23.1	0.9938318436978878	0.61979	0.00007	0.00120	N	AEFGBHCI	0.037946	0.05297	N	-0.43745715746271	0.24166	1.303035	-0.511258146740924	0.21847	1.18381	0.00367639831337663	0.10231	0.660377	0.49826	0	0.633656	0.55848	0	0.696353	0.63694	0	0.491896	0.07777	0	.	.	3.33	2.17	0.26736	0.211000	0.17268	0.111000	0.14782	0.751000	0.87719	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.8852:0.0:0.1147:0.0	7.103	0.24529	757	0.50970	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.007049	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.022727	0.1	2365.14	106	chr9	96818552	.	A	C	2365.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.86;DP=505;ExcessHet=0.2348;FS=4.222;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.824;SOR=0.92	GT:AD:DP:GQ:PL	0/1:55,28:83:99:741,0,1376	8	0	2	0
chr9	97330636	97330636	G	C	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon18:c.G2143C:p.G715R,CCDC180:NM_001348010:exon19:c.G2134C:p.G712R	.	368	1140	13	1	0	15	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	.	0.0014	0.0295527	0.0166	0.0014	0.0017	0.1019	0.0462	0.0045	0.0194	0.0299	0.0148122	2290	154602	rs79340881	0.0077	0.0077	0.0072	0.0082	0.0965	0.0076	0.0075	0.0939	0.0929	0.0006	0.0017	0.0087	0.0965	0.0422	0.0050	0.0016	0.0105	0.0278	0.0093	0.0093	0.0067	0.0119	0.0951	0.0089	0.0087	0.0882	0.0854	0.0010	0	0.0015	0.0101	0.0951	0.0487	0	0.0021	0.0071	0.0298	0.083	0.33091	T	0.49	0.11551	T	.	.	.	.	.	.	0.019615	0.01514	N	2.353020	1	0.08975	P	.	.	.	3.11	0.08194	T	-1.2	0.30555	N	0.065	0.03726	-0.9971	0.30728	T	0.000	0.00114	T	9	0.0022274256	0.00032	T	.	.	.	0.049	0.13647	.	.	.	.	0.1003911166582062	0.09970	.	.	0.295209884644	0.09689	T	.	.	.	-0.698241	0.00037	T	-0.688898	0.06453	T	0.00139562611858838	0.00014	T	0.486451	0.14861	T	0.07803534	0.17747	0.066847414	0.13748	0.07803534	0.17746	0.066847414	0.13747	-4.409	0.29679	T	.	.	0.101	0.17742	B	.	.	-0.320489	0.02529	0.302	0.50305580153542118	0.04361	0.03803	0.09135	N	AEFI	0.084834	0.17196	N	-1.33746764887511	0.03256	0.1451611	-1.38334131345414	0.03429	0.1599356	0.107216255934556	0.16549	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.62	-0.698	0.10713	-0.221000	0.09208	-0.389000	0.09488	-0.103000	0.15852	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2893:0.1661:0.3741:0.1705	0.726	0.00889	768	0.49510	.	.	.	.	.	rs79340881	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	0.008081	0.005102	0.002717	0.000000	0.000000	0.000000	0.021605	0.022727	0.05	409.43	41	chr9	97330636	.	G	C	409.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=382;ExcessHet=0;FS=2.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.19;ReadPosRankSum=-0.318;SOR=0.586	GT:AD:DP:GQ:PL	0/1:33,17:50:99:421,0,865	9	0	1	0
chr9	97371691	97371691	G	A	exonic	CCDC180	.	nonsynonymous SNV	CCDC180:NM_020893:exon34:c.G4585A:p.D1529N	.	425	1081	15	1	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	.	0.0014	0.0297524	0.0166	0.0014	0.0017	0.0997	0.0461	0.0044	0.0190	0.0302	0.0148769	2300	154602	rs2306093	0.0077	0.0077	0.0072	0.0082	0.0964	0.0076	0.0075	0.0938	0.0928	0.0006	0.0017	0.0087	0.0964	0.0421	0.0051	0.0016	0.0104	0.0278	0.0093	0.0093	0.0067	0.0120	0.0950	0.0089	0.0087	0.0880	0.0853	0.0010	0	0.0015	0.0101	0.0950	0.0492	0	0.0022	0.0071	0.0298	0.007	0.59928	D	0.001	0.83351	D	.	.	.	.	.	.	0.000052	0.53742	D	0.078967	0.0808387	0.81001	P	.	.	.	-0.13	0.64818	T	-3.66	0.70067	D	0.123	0.11483	-0.8465	0.52208	T	0.016	0.06569	T	9	0.0020745993	0.00029	T	.	.	.	0.299	0.61955	.	.	.	.	0.2929644638731095	0.29209	.	.	0.421825051308	0.28087	T	.	.	.	-0.390108	0.02686	T	-0.246287	0.50182	T	0.0194891046775722	0.00653	T	0.832317	0.50011	T	0.30348372	0.53216	0.2659079	0.52429	0.30348372	0.53216	0.2659079	0.52428	-3.8	0.20805	T	.	.	0.327	0.54975	B	.	.	4.654599	0.74232	26.1	0.99907692579135143	0.97801	0.91702	0.54082	D	AEFI	0.509505	0.53894	D	0.663436623040766	0.77239	6.637001	0.609957361661287	0.75664	6.350365	0.990983130106929	0.32334	0.693126	0.56070	0	0.610034	0.51514	0	0.659464	0.59346	0	0.567892	0.33627	0	.	.	5.29	5.29	0.74430	5.555000	0.67005	8.590000	0.77683	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	14.818	0.69678	726	0.54788	Domain of unknown function DUF4456	.	.	.	.	rs2306093	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	0.008056	0.005051	0.004076	0.002924	0.000000	0.000000	0.015244	0.022727	0.05	757.43	39	chr9	97371691	.	G	A	757.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=404;ExcessHet=0;FS=2.825;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=-2.921;SOR=1.017	GT:AD:DP:GQ:PL	0/1:54,36:90:99:769,0,1170	9	0	1	0
chr9	98199449	98199449	G	A	exonic	TBC1D2	.	nonsynonymous SNV	TBC1D2:NM_001267572:exon7:c.C1339T:p.R447W,TBC1D2:NM_001267571:exon13:c.C2719T:p.R907W,TBC1D2:NM_018421:exon13:c.C2686T:p.R896W	.	416	1098	7	1	0	9	0.00408163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0194353318223	0.0004	0.00139776	0.0014	9.73e-05	0.0007	0	0	0.0009	0	0.0059	0.0012419	192	154602	rs201119281	0.0009	0.0009	0.0008	0.0011	0.0066	0.0009	0.0009	0.0061	0.0059	8.961e-05	0.0003	0.0032	0	9.373e-05	0.0035	0.0005	0.0010	0.0066	0.0007	0.0007	0.0006	0.0008	0.0064	0.0006	0.0006	0.0047	0.0040	0.0001	0	0.0002	0.0049	0	0	0	0.0007	0.0005	0.0064	0.0	0.91255	D	0.001	0.83351	D	0.396	0.37720	B	0.062	0.32951	B	0.056489	0.22556	N	0.430211	1	0.08975	N	2.63	0.76995	M	2.88	0.12268	T	-4.25	0.76094	D	0.163	0.22998	-1.0372	0.18171	T	0.032	0.13854	T	10	0.0049004555	0.00105	T	0.019435	0.41802	T	0.118	0.32913	.	.	0.362160248664	0.35833	0.47795207806700285	0.47715	0.910803748371	0.71052	0.255336880684	0.04351	T	0.203966	0.56259	T	-0.48637	0.00680	T	-0.469217	0.25599	T	0.107640780010323	0.13177	T	0.764624	0.39166	T	0.070248626	0.15457	0.03592377	0.02936	0.070248626	0.15456	0.03592377	0.02936	-7.981	0.60941	D	.	.	0.109	0.21877	B	.;.;.;.	.;.;.;.	2.223112	0.28372	17.77	0.99722686877410693	0.82195	0.24760	0.22493	N	AEFDBI	0.350375	0.44384	N	-0.914527525147505	0.10502	0.5021429	-1.0766970332286	0.08160	0.4000209	0.948854702788243	0.27819	0.706298	0.61202	0	0.588066	0.40923	0	0.688494	0.62686	0	0.613276	0.41899	0	.	.	5.51	-3.81	0.04013	-0.093000	0.11077	0.988000	0.23172	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0641:0.0:0.3905:0.5455	12.191	0.53582	630	0.65016	.;.;.;.	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.011364	0.05	961.43	37	chr9	98199449	.	G	A	961.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.54;DP=419;ExcessHet=0;FS=5.018;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=0.596;SOR=1.182	GT:AD:DP:GQ:PL	0/1:63,41:104:99:973,0,1423	9	0	1	0
chr9	104604738	104604738	C	T	exonic	OR13C2	.	nonsynonymous SNV	OR13C2:NM_001004481:exon1:c.G890A:p.S297N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00674905032509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.951	0.68939	D	0.000589	0.43095	U	0.000000	0.997685	0.22554	N	3.055	0.86842	M	1.1	0.39050	T	-2.64	0.56630	D	0.477	0.51226	-0.5118	0.68221	T	0.366	0.72681	T	10	0.49586773	0.61262	T	0.006749	0.17840	T	0.180	0.45073	0.565	0.68633	0.57068417637	0.56733	0.19819092399041724	0.19736	0.759756878633	0.64188	0.208841234446	0.00763	T	0.012079	0.10676	T	-0.11619	0.33748	T	-0.404676	0.32840	T	0.986598253250122	0.77273	D	0.653935	0.26417	T	0.42864174	0.62663	0.6638048	0.80292	0.42864174	0.62664	0.6638048	0.80293	-8.92	0.67181	D	.	.	0.632	0.70174	P	.	.	4.461615	0.69446	25.4	0.9947242445710438	0.66419	0.94856	0.62567	D	AEFI	0.186012	0.31333	N	0.653629951373642	0.76603	6.517269	0.466748716963808	0.65799	4.869722	0.0133567617760039	0.12453	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.53	3.53	0.39533	1.809000	0.38560	3.901000	0.40351	0.425000	0.20843	0.012000	0.18695	0.999000	0.35428	0.946000	0.48989	0.0:0.7683:0.2317:0.0	8.823	0.34198	883	0.28872	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1647.43	168	chr9	104604738	.	C	T	1647.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.729;DP=1055;ExcessHet=0;FS=0.51;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.59;MQRankSum=-3.624;QD=7.59;ReadPosRankSum=1.15;SOR=0.631	GT:AD:DP:GQ:PL	0/1:132,85:217:99:1659,0,3133	9	0	1	0
chr9	104694845	104694845	A	G	exonic	OR13D1	.	nonsynonymous SNV	OR13D1:NM_001004484:exon1:c.A424G:p.T142A	.	433	1035	54	0	0	54	0.0254237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	.	0.0029	0.00539137	0.0056	0.0006	0.0030	0	0.0003	0.0034	0.0077	0.0246	0.0050323	778	154602	rs139937095	0.0039	0.0039	0.0031	0.0046	0.0233	0.0038	0.0038	0.0224	0.0221	0.0003	0.0023	0.0246	0	0.0002	0.0179	0.0022	0.0058	0.0233	0.0027	0.0027	0.0025	0.0030	0.0174	0.0025	0.0024	0.0144	0.0133	0.0005	0	0.0027	0.0308	0.0006	0	0.0034	0.0022	0.0052	0.0174	0.001	0.78490	D	0.061	0.45530	T	0.889	0.48869	P	0.46	0.46423	P	0.002207	0.37012	N	0.121018	1	0.08975	N	1.56	0.39490	L	4.45	0.02121	T	-4.85	0.81107	D	0.056	0.02759	-1.0109	0.26635	T	0.008	0.02926	T	10	0.0064913332	0.00147	T	.	.	.	0.043	0.11576	.	.	0.346768085243	0.34289	0.17119933839543708	0.17039	0.0913270158701	0.10314	0.211758986115	0.00888	T	0.006661	0.06088	T	-0.558641	0.00259	T	-0.556301	0.16727	T	0.0682928540585661	0.08410	T	0.577142	0.20757	T	0.453373	0.64255	0.6090316	0.77262	0.453373	0.64255	0.6090316	0.77263	-6.246	0.48293	T	.	.	0.088	0.11797	B	.;.	.;.	2.845789	0.37553	20.5	0.99637367300904922	0.76449	0.06597	0.12612	N	AEFDGI	0.071517	0.14241	N	-0.137321255061406	0.35777	2.059277	-0.253945567421244	0.29635	1.661925	3.58516400389856E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.75	3.75	0.42236	0.037000	0.13728	4.788000	0.44881	0.733000	0.85838	0.000000	0.06391	0.255000	0.23945	0.716000	0.34643	1.0:0.0:0.0:0.0	10.433	0.43603	883	0.28872	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.013609	0.010101	0.010870	0.008772	0.050000	0.008621	0.021472	0.015152	0.1	3990.14	129	chr9	104694845	.	A	G	3990.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.388;DP=1046;ExcessHet=0.2348;FS=1.723;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.78;MQRankSum=1.35;QD=11.05;ReadPosRankSum=0.799;SOR=0.788	GT:AD:DP:GQ:PL	0/1:100,89:189:99:2100,0,2758	8	0	2	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-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	.	.	.	.	.	.	.	.	0.2778	2408.23	143	chr9	106974250	.	T	C	2408.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-3.227;DP=1108;ExcessHet=2.8389;FS=252.583;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.41;ReadPosRankSum=2.05;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,31:135:99:0|1:106974250_T_C:405,0,3183:106974250	4	0	5	1
chr9	112890419	112890419	G	A	exonic	SLC46A2	.	nonsynonymous SNV	SLC46A2:NM_033051:exon1:c.C263T:p.S88F	.	414	1107	1	0	0	1	0.000451467	.	.	.	3329414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.0121361275625	.	.	8.259e-05	0	8.645e-05	0	0	3.008e-05	0	0.0004	6.47e-05	10	154602	rs761575386	5.13e-05	5.13e-05	3.131e-05	7.15e-05	0.0007	4.192e-05	3.823e-05	0.0004	0.0004	0	4.472e-05	0	0	0	0.0007	1.799e-05	6.623e-05	0.0005	1.969e-05	1.968e-05	1.285e-05	2.685e-05	0.0004	5.24e-06	2.45e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0.0005	0.0004	0.026	0.46910	D	0.01	0.65728	D	0.602	0.39365	P	0.378	0.43788	B	0.000389	0.44960	D	0.241565	0.961604	0.26100	N	0.695	0.17993	N	0.42	0.56937	T	-0.88	0.23808	N	0.286	0.32370	-1.0249	0.22116	T	0.089	0.34160	T	10	0.17713219	0.32733	T	0.012136	0.30444	T	0.080	0.23350	0.571	0.69431	0.586633458331	0.58337	0.4547638456252715	0.45394	0.576931619124	0.53642	0.408066421747	0.26189	T	0.127957	0.45531	T	-0.329181	0.06174	T	-0.382662	0.35411	T	0.172834157887043	0.18771	T	0.836316	0.50742	T	0.25977537	0.49031	0.3491561	0.60545	0.25977537	0.49031	0.3491561	0.60545	-6.254	0.48357	T	.	.	0.231	0.46354	B	.	.	3.977658	0.58453	24.0	0.99732150488888194	0.82833	0.76003	0.37244	D	AEFDBCI	0.363175	0.45216	N	-0.0909870537100499	0.37788	2.203488	0.0514267679150834	0.42141	2.543778	0.999998469194794	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.530356	0.10902	0	.	.	5.44	4.54	0.55220	2.266000	0.42977	8.542000	0.77496	0.675000	0.71128	0.996000	0.39380	1.000000	0.68203	0.916000	0.45140	0.0:0.1329:0.7292:0.1379	11.818	0.51495	657	0.62240	.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.003788	0.05	2105.43	33	chr9	112890419	.	G	A	2105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.541;DP=471;ExcessHet=0;FS=3.795;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=-1.36;SOR=0.54	GT:AD:DP:GQ:PL	0/1:66,88:154:99:2117,0,1549	9	0	1	0
chr9	121301978	121301978	G	T	exonic	GSN	.	nonsynonymous SNV	GSN:NM_000177:exon2:c.G160T:p.V54L,GSN:NM_001127662:exon2:c.G7T:p.V3L,GSN:NM_001258029:exon2:c.G58T:p.V20L,GSN:NM_001258030:exon2:c.G31T:p.V11L,GSN:NM_001353055:exon3:c.G7T:p.V3L,GSN:NM_001353057:exon3:c.G7T:p.V3L,GSN:NM_001353062:exon3:c.G7T:p.V3L,GSN:NM_001353063:exon3:c.G40T:p.V14L,GSN:NM_001353067:exon3:c.G40T:p.V14L,GSN:NM_001353075:exon3:c.G40T:p.V14L,GSN:NM_001353077:exon3:c.G40T:p.V14L,GSN:NM_198252:exon3:c.G7T:p.V3L,GSN:NM_001127663:exon4:c.G115T:p.V39L,GSN:NM_001127664:exon4:c.G7T:p.V3L,GSN:NM_001127665:exon4:c.G7T:p.V3L,GSN:NM_001127666:exon4:c.G40T:p.V14L,GSN:NM_001127667:exon4:c.G40T:p.V14L,GSN:NM_001353056:exon4:c.G7T:p.V3L,GSN:NM_001353058:exon4:c.G7T:p.V3L,GSN:NM_001353059:exon4:c.G7T:p.V3L,GSN:NM_001353060:exon4:c.G7T:p.V3L,GSN:NM_001353061:exon4:c.G7T:p.V3L,GSN:NM_001353070:exon4:c.G40T:p.V14L,GSN:NM_001353076:exon4:c.G79T:p.V27L,GSN:NM_001353064:exon5:c.G40T:p.V14L,GSN:NM_001353065:exon5:c.G40T:p.V14L,GSN:NM_001353066:exon5:c.G40T:p.V14L,GSN:NM_001353068:exon5:c.G40T:p.V14L,GSN:NM_001353069:exon5:c.G40T:p.V14L,GSN:NM_001353071:exon5:c.G40T:p.V14L,GSN:NM_001353072:exon5:c.G40T:p.V14L,GSN:NM_001353074:exon5:c.G40T:p.V14L,GSN:NM_001353073:exon6:c.G40T:p.V14L,GSN:NM_001353053:exon11:c.G7T:p.V3L,GSN:NM_001353054:exon11:c.G7T:p.V3L	Amyloidosis, Finnish type, Autosomal dominant	0	1518	3	0	1	4	0.000987167	.	.	.	900974	not_provided|Finnish_type_amyloidosis|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0007097,MedGen:C1622345,OMIM:105120,Orphanet:85448|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.068	0.00996342020425	0.0002	.	9.064e-05	9.614e-05	8.64e-05	0	0	7.496e-05	0	0.0002	7.12e-05	11	154602	rs138068754	5.472e-05	5.472e-05	4.628e-05	6.325e-05	0.0026	4.477e-05	4.147e-05	0.0016	0.0013	0	4.472e-05	0	0	0	0.0026	3.148e-05	6.623e-05	0.0003	4.598e-05	4.596e-05	5.137e-05	4.034e-05	0.0002	2.109e-05	1.526e-05	2.846e-05	1.858e-05	0	0	6.541e-05	0	0	0	0	7.349e-05	0	0.0002	0.17	0.25355	T	0.097	0.40909	T	0.564	0.38410	P	0.067	0.27542	B	0.003382	0.35013	N	0.265966	0.99994	0.52396	D	2.005	0.54552	M	2.44	0.19311	T	-0.39	0.23156	N	0.2	0.30347	-1.0994	0.04164	T	0.042	0.18076	T	10	0.12689078	0.24127	T	0.009963	0.25923	T	0.068	0.19811	0.219	0.14078	0.529361283073	0.52585	0.45519307499845835	0.45437	0.410812321046	0.41857	0.56973028183	0.48639	T	0.020732	0.52275	T	-0.299015	0.08754	T	-0.371099	0.36760	T	0.084365762926115	0.10536	T	0.89941	0.64770	D	0.16233182	0.36303	0.16296643	0.37829	0.16233182	0.36302	0.16296643	0.37828	-3.779	0.20491	T	.	.	0.226	0.56895	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.040471	0.40762	21.2	0.9929754331721129	0.58505	0.97821	0.77381	D	AEFDBHCI	0.967672	0.99014	D	-0.14016193951897	0.35655	2.050727	0.0241116953902468	0.40837	2.443573	0.999999999277477	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.493711	0.08198	1	0.714379	0.83352	0	.	.	4.97	4.07	0.46726	7.732000	0.83846	5.809000	0.49993	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0904:0.0:0.9096:0.0	11.223	0.48096	929	0.16858	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	861.43	38	chr9	121301978	.	G	T	861.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.474;DP=389;ExcessHet=0;FS=0.949;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.8;ReadPosRankSum=0.365;SOR=0.516	GT:AD:DP:GQ:PL	0/1:39,34:73:99:873,0,1072	9	0	1	0
chr9	123367583	123367583	C	A	exonic	CRB2	.	stopgain	CRB2:NM_173689:exon6:c.C951A:p.C317X	Focal segmental glomerulosclerosis 9, Autosomal recessive;Ventriculomegaly with cystic kidney disease, Autosomal recessive	425	1092	5	0	0	5	0.00228415	.	.	YES	3122308	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs774871506	1.85e-05	2.394e-05	1.687e-05	2.017e-05	0.0002	1.287e-05	1.094e-05	3.203e-05	2.174e-05	0	0	0	0	0	0.0002	1.477e-05	5.15e-05	7.538e-05	1.973e-05	1.97e-05	3.856e-05	0	0.0002	5.25e-06	2.46e-06	.	.	2.415e-05	0	0	0	0	0	0	1.471e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.000126	0.49741	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.838	0.83371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive	.;High	6.773626	0.95715	35	0.99450021050748305	0.65223	0.72613	0.35536	D	AEFGBI	0.385530	0.46624	N	0.260817125880536	0.54176	3.583871	0.01122039991398	0.40235	2.397992	0.99998492277037	0.51787	0.695654	0.57023	0	0.491552	0.07993	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.09	2.97	0.33479	0.739000	0.25841	-0.207000	0.10889	0.589000	0.31548	0.162000	0.23825	0.000000	0.08366	0.781000	0.36947	0.0:0.8044:0.0:0.1956	9.333	0.37194	372	0.84213	.;EGF-like, conserved site|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	545.43	34	chr9	123367583	.	C	A	545.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.15;DP=365;ExcessHet=0;FS=2.451;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.566;SOR=1.136	GT:AD:DP:GQ:PL	0/1:30,23:53:99:557,0,684	9	0	1	0
chr9	126693840	126693840	G	A	exonic	LMX1B	.	nonsynonymous SNV	LMX1B:NM_001174146:exon6:c.G914A:p.G305D	Nail-patella syndrome, Autosomal dominant	16	1474	32	0	0	32	0.0107383	.	.	.	1196037	not_specified|not_provided|LMX1B-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.108	.	0.0013	0.00319489	0.0092	0.0101	0.0093	0	0	0.0230	0	0.0040	0.0018628	288	154602	rs150656317	0.0045	0.0042	0.0044	0.0045	0.0245	0.0043	0.0043	0.0202	0.0186	0.0036	0.0039	0.0252	0	0.0004	0.0245	0.0042	0.0059	0.0031	0.0043	0.0043	0.0043	0.0043	0.0078	0.0041	0.0040	0.0066	0.0062	0.0025	0.0121	0.0078	0.0196	0.0002	0.0004	0.0510	0.0046	0.0043	0.0033	0.463	0.08660	T	0.507	0.10930	T	0.017	0.17573	B	0.007	0.12992	B	.	.	.	.	0.999979	0.18612	N	.	.	.	-1.04	0.76561	T	1.02	0.01369	N	0.103	0.09207	-1.0176	0.24495	T	0.093	0.35498	T	8	0.0039789677	0.00077	T	.	.	.	0.108	0.30607	.	.	0.434880891158	0.43107	0.7508548163077582	0.75032	1.33916717862	0.83813	.	.	.	0.097566	0.40051	T	-0.482546	0.00715	T	-0.464692	0.26090	T	0.000464322505933536	0.00004	T	0.379762	0.09155	T	.	.	.	.	.	.	.	.	-5.937	0.45749	T	.	.	0.204	0.46144	B	.;.	.;.	-0.065214	0.03855	0.832	0.30846492148849086	0.01708	0.00801	0.03263	N	AEFBI	0.036664	0.04922	N	-1.15848612729208	0.05641	0.2577192	-1.25131830733616	0.05111	0.24279	0.987308238982138	0.31233	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	2.02	-0.16	0.12720	-0.172000	0.09858	0.677000	0.20646	-0.939000	0.02101	0.145000	0.23581	0.035000	0.21413	0.002000	0.04165	0.0:0.2631:0.4685:0.2684	4.144	0.09675	845	0.36510	.;.	.	.	.	.	.	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	1	0	0.026846	0.006410	0.044643	0.039394	0.000000	0.029412	0.020690	0.004132	0.1	374.14	36	chr9	126693840	.	G	A	374.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.01;DP=266;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.31;ReadPosRankSum=1.79;SOR=0.646	GT:AD:DP:GQ:PL	0/1:18,11:29:99:186,0,396	8	0	2	0
chr9	128276715	128276715	C	A	exonic	SWI5	.	nonsynonymous SNV	SWI5:NM_001040011:exon2:c.C191A:p.P64Q,SWI5:NM_001318089:exon2:c.C71A:p.P24Q,SWI5:NM_001318092:exon2:c.C98A:p.P33Q,SWI5:NM_001379267:exon2:c.C218A:p.P73Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0181485022622	.	.	8.292e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs769488316	4.789e-06	4.788e-06	2.723e-06	6.877e-06	6.296e-06	1.99e-06	1.28e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.296e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.029	0.55341	D	0.838	0.46404	P	0.387	0.44046	B	0.093649	0.20213	N	0.436204	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.95	0.45222	N	0.272	0.36674	-1.0197	0.23812	T	0.056	0.23715	T	9	0.075301915	0.11620	T	0.018149	0.40116	T	0.084	0.24469	0.242	0.17524	0.0482279557977	0.04254	0.09668226034344464	0.09600	0.229919807998	0.25545	0.315304785967	0.12709	T	0.022467	0.20920	T	-0.146535	0.28854	T	-0.448264	0.27887	T	0.449584573507309	0.30782	T	0.518148	0.18126	T	0.04926464	0.08720	0.113196	0.27318	0.04926464	0.08720	0.113196	0.27317	-4.799	0.34580	T	.	.	0.104	0.36134	B	.;.;.;.;.	.;.;.;.;.	1.894917	0.24068	16.26	0.79256734813262431	0.12660	0.32736	0.24658	N	ALL	0.099712	0.20066	N	-0.891973013635847	0.11031	0.5302605	-0.980741171019176	0.10219	0.5132339	0.999999996360864	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.73	1.6	0.22686	0.487000	0.22064	1.638000	0.27776	-0.220000	0.07995	0.001000	0.13787	0.009000	0.19889	0.030000	0.13115	0.0:0.4989:0.3912:0.1099	5.766	0.17492	320	0.86992	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2337.43	37	chr9	128276715	.	C	A	2337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.131;DP=530;ExcessHet=0;FS=1.088;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.46;ReadPosRankSum=0.071;SOR=0.808	GT:AD:DP:GQ:PL	0/1:100,104:204:99:2349,0,2322	9	0	1	0
chr9	128355553	128355553	G	A	exonic	SLC27A4	.	nonsynonymous SNV	SLC27A4:NM_005094:exon11:c.G1618A:p.E540K	Ichthyosis prematurity syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.026416047563	.	.	8.345e-06	0	0	0	0	1.525e-05	0	0	1.29e-05	2	154602	rs763116146	2.674e-05	2.668e-05	2.456e-05	2.894e-05	3.327e-05	2.002e-05	1.758e-05	2.455e-05	2.143e-05	2.987e-05	0	0	0	0	0	3.327e-05	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.37750	T	0.296	0.37037	T	0.98	0.59353	D	0.511	0.47948	P	0.000013	0.62929	D	0.147832	0.99992	0.51308	D	1.84	0.48285	L	0.35	0.58029	T	-2.23	0.54382	N	0.51	0.54147	-0.8125	0.54399	T	0.207	0.56540	T	10	0.4619516	0.59339	T	0.026416	0.49328	D	0.274	0.59007	0.498	0.58835	0.78399990157	0.78200	0.7435190826463951	0.74297	0.313050845058	0.33600	0.635478317738	0.57922	T	0.583128	0.86380	D	-0.185271	0.22955	T	-0.321759	0.42381	T	0.410659730434418	0.29343	T	0.751425	0.39577	T	0.19716111	0.41571	0.16522154	0.38233	0.19716111	0.41570	0.16522154	0.38233	-6.467	0.63951	T	0.21851829361622604	0.29428	0.228	0.46025	B	.;.	.;.	3.763970	0.54020	23.4	0.99757713911733836	0.84772	0.95991	0.67041	D	AEFBI	0.425826	0.49043	N	-0.0554528047586554	0.39358	2.319784	-0.120332769597341	0.34571	1.990121	0.999903495653307	0.45458	0.719381	0.83141	0	0.577304	0.33150	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.08	4.19	0.48645	2.380000	0.43982	3.506000	0.38809	-0.108000	0.15293	0.863000	0.30666	1.000000	0.68203	0.181000	0.21328	0.0784:0.0:0.9216:0.0	12.775	0.56817	329	0.86514	.;AMP-binding enzyme, C-terminal 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	.	.	.	.	.	.	.	.	0.05	1856.43	37	chr9	128355553	.	G	A	1856.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.374;DP=472;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.965;SOR=0.72	GT:AD:DP:GQ:PL	0/1:71,72:143:99:1868,0,1755	9	0	1	0
chr9	128656662	128656662	G	A	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon1:c.C65T:p.A22V	.	431	1074	17	0	0	17	0.00785219	.	.	YES	919188	DYNC2I2-related_disorder|Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|not_provided|See_cases	.|MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.256	.	0.0039	0.00139776	0.0147	0	0.0172	0	0.0048	0.0333	0.0167	0.0051	0.0026455	409	154602	rs201715229	0.0032	0.0032	0.0031	0.0033	0.0137	0.0031	0.0031	0.0110	0.0100	0.0005	0.0027	0.0215	0	0.0008	0.0137	0.0030	0.0047	0.0031	0.0026	0.0026	0.0026	0.0026	0.0039	0.0024	0.0023	0.0031	0.0028	0.0005	0.0044	0.0039	0.0228	0	0.0006	0.0068	0.0031	0.0019	0.0017	0.0	0.91255	D	0.0	0.92824	D	0.969	0.60036	D	0.304	0.50647	B	0.063802	0.21998	N	0.327042	0.949009	0.26551	N	1.04	0.26193	L	-0.99	0.75911	T	-0.85	0.24026	N	0.257	0.29081	-0.6570	0.62408	T	0.264	0.63469	T	10	0.0067727864	0.00154	T	.	.	.	0.256	0.56694	.	.	0.762820204418	0.76066	0.345762334584744	0.34490	0.50621119283	0.48837	0.814750313759	0.84221	D	0.033738	0.23038	T	-0.331137	0.06026	T	-0.247478	0.50065	T	0.0607750055070488	0.07290	T	0.578142	0.20837	T	0.175322	0.38385	0.3908777	0.63872	0.19349916	0.41062	0.39782614	0.64387	-4.447	0.30189	T	.	.	0.202	0.48561	B	.;.;.	.;.;.	3.824749	0.55248	23.6	0.99313947490755272	0.59129	0.11453	0.16644	N	ALL	0.149779	0.27394	N	0.133431610482081	0.48027	3.020442	0.0530551527143404	0.42220	2.549916	0.999999999999788	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.74	2.83	0.32150	1.687000	0.37298	8.784000	0.78249	0.640000	0.52149	0.924000	0.32081	1.000000	0.68203	0.005000	0.06747	0.0:0.0:0.7737:0.2263	8.695	0.33453	0	0.99858	.;.;.	.	.	.	.	.	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	0	0	1	0	0.016940	0.005319	0.021978	0.008876	0.100000	0.053571	0.009554	0.003788	0.05	875.43	37	chr9	128656662	.	G	A	875.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=374;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=-1.188;SOR=0.641	GT:AD:DP:GQ:PL	0/1:27,37:64:99:887,0,529	9	0	1	0
chr9	128690000	128690000	C	G	exonic	SET	.	nonsynonymous SNV	SET:NM_001248001:exon1:c.C14G:p.S5C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.503369034182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.669e-05	1.368e-05	1.486e-05	1.871e-05	1.89e-05	1.002e-05	7.94e-06	1.135e-05	9e-06	0	0	0	0	0	0	1.89e-05	0	0	1.396e-05	1.337e-05	2.718e-05	0	1.547e-05	2.32e-06	8.7e-07	.	.	0	0	0	0	0	0	0	1.547e-05	0.0005	0	0.02	0.49613	D	0.05	0.48080	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.49	0.32238	T	-2.22	0.52128	N	0.112	0.09914	-1.0367	0.18326	T	0.089	0.34408	T	8	0.17953798	0.33093	T	0.503369	0.95188	D	0.067	0.19503	0.207	0.12356	0.245697971988	0.24196	.	.	.	.	.	.	.	.	.	.	-0.30422	0.08267	T	-0.674768	0.07306	T	0.311082556254592	0.25459	T	0.358764	0.08314	T	.	.	.	.	.	.	.	.	-6.149	0.47509	T	.	.	0.125	0.26325	B	.;.	.;.	2.800282	0.36834	20.3	0.92974269038268254	0.22554	0.00791	0.03234	N	AEFDBHCIJ	0.053269	0.09583	N	-0.236935002845989	0.31629	1.775398	-0.394646061276502	0.25156	1.381737	0.999999999721326	0.74766	0.495885	0.18260	0	0.218748	0.04544	0	0.239995	0.05000	1	0.554799	0.18163	0	.	.	1.66	0.426	0.15694	0.225000	0.17538	3.900000	0.40345	0.353000	0.19991	0.956000	0.33378	1.000000	0.68203	0.995000	0.73285	0.3846:0.6154:0.0:0.0	4.417	0.10888	0	0.99858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	419.43	31	chr9	128690000	.	C	G	419.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.423;DP=341;ExcessHet=0;FS=2.864;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=-0.243;SOR=0.895	GT:AD:DP:GQ:PL	0/1:18,19:37:99:431,0,388	9	0	1	0
chr9	132662595	132662595	A	T	exonic	DDX31	.	nonsynonymous SNV	DDX31:NM_001322340:exon2:c.T491A:p.V164D,DDX31:NM_001322343:exon2:c.T104A:p.V35D,DDX31:NM_001322344:exon2:c.T491A:p.V164D,DDX31:NM_022779:exon2:c.T491A:p.V164D,DDX31:NM_138620:exon2:c.T491A:p.V164D,DDX31:NM_001322341:exon3:c.T203A:p.V68D	.	427	1094	1	0	0	1	0.00045683	.	.	.	2269746	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00770464075836	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0004	0.0011	0	0.0002329	36	154602	rs142850420	0.0004	0.0004	0.0004	0.0004	0.0012	0.0003	0.0003	0.0006	0.0004	2.987e-05	0.0002	0	0	0	0.0012	0.0005	0.0002	0	0.0001	0.0001	0.0001	0.0001	0.0002	7.086e-05	5.743e-05	0.0001	7.895e-05	4.81e-05	0.0011	6.539e-05	0	0	0	0	0.0002	0.0005	0	0.412	0.12754	T	0.308	0.34837	T	0.003	0.25713	B	0.001	0.19966	B	0.817049	0.09208	N	0.922312	0.999999	0.08975	N	0.55	0.14455	N	4.41	0.04799	T	0.37	0.03639	N	0.143	0.15609	-1.0075	0.27696	T	0.049	0.20987	T	10	0.0129597485	0.00276	T	0.007705	0.20431	T	0.014	0.01968	.	.	0.27479166964	0.27093	0.3070588009125128	0.30618	0.245987167374	0.27129	0.260633438826	0.04966	T	5.37E-4	0.00207	T	-0.538875	0.00340	T	-0.689867	0.06396	T	0.0158827032298515	0.00374	T	0.644436	0.25592	T	0.15108034	0.34363	0.08978217	0.21016	0.15108034	0.34363	0.08978217	0.21015	-4.129	0.25716	T	.	.	0.087	0.19032	B	.;.;.;.;.	.;.;.;.;.	0.928735	0.13039	9.543	0.62504826091639476	0.06980	0.05094	0.10893	N	AEFGBI	0.031586	0.03409	N	-0.966067512975474	0.09336	0.4414052	-0.917080469823198	0.11692	0.5971747	0.999891359155048	0.45129	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.49	1.68	0.23219	0.236000	0.17745	0.344000	0.17410	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.454000	0.27984	0.4407:0.0:0.2699:0.2894	3.296	0.06557	735	0.53711	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	976.43	34	chr9	132662595	.	A	T	976.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.34;DP=423;ExcessHet=0;FS=1.599;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=-0.43;SOR=0.94	GT:AD:DP:GQ:PL	0/1:67,42:109:99:988,0,1527	9	0	1	0
chr9	133071303	133071303	G	C	exonic	CEL	.	nonsynonymous SNV	CEL:NM_001807:exon11:c.G1801C:p.A601P	Maturity-onset diabetes of the young, type VIII, Autosomal dominant	115	1368	29	5	5	44	0.0140541	.	.	.	1184208	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.212	.	.	.	0.4112	0	0.2	0	.	0.3333	0	0.4727	0.0015006	232	154602	rs756704908	0.0080	0.0062	0.0070	0.0089	0.0279	0.0078	0.0077	0.0266	0.0261	0.0012	0.0046	0.0171	0.0008	0.0072	0.0214	0.0057	0.0072	0.0279	0.0027	0.0039	0.0026	0.0029	0.0139	0.0024	0.0023	0.0093	0.0078	0.0005	0.0034	0.0028	0.0101	0.0008	0.0019	0	0.0031	0.0032	0.0139	0.003	0.68238	D	0.024	0.56640	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.45	0.69896	T	-0.46	0.14978	N	0.12	0.11054	-0.7390	0.58504	T	0.328	0.69631	T	9	0.002461046	0.00037	T	.	.	.	0.212	0.50341	.	.	.	.	0.07351690158995682	0.07288	1.00469648732	0.74536	0.776454806328	0.78393	T	0.019292	0.15396	T	-0.399635	0.02328	T	-0.319665	0.42611	T	0.0485864028472388	0.05248	T	0.948505	0.80194	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.24599	B	.	.	2.200563	0.28064	17.67	0.9907478307719837	0.51810	0.03018	0.07894	N	AEFHCI	0.147376	0.27103	N	-0.586236619627421	0.19362	1.012727	-0.849127286812922	0.13309	0.6896853	0.117021367542883	0.16792	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.13	-0.24	0.12403	0.089000	0.14843	0.179000	0.15609	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.2463:0.1872:0.3758:0.1907	0.667	0.00798	962	0.08456	Mucin-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.015977	0.000000	0.013812	0.034091	0.000000	0.000000	0.012346	0.024590	0.05	337.43	27	chr9	133071303	.	G	C	337.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.159;DP=203;ExcessHet=0;FS=0;InbreedingCoeff=-0.0527;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=24.1;ReadPosRankSum=-1.404;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:3,11:14:90:0|1:133071303_G_C:349,0,90:133071303	9	0	1	0
chr9	133568440	133568440	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon14:c.G2042A:p.R681Q,ADAMTSL2:NM_014694:exon14:c.G2042A:p.R681Q	Geleophysic dysplasia 1, Autosomal recessive	0	1472	48	2	0	52	0.0173565	.	.	.	317572	Geleophysic_dysplasia_1|not_specified	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.115	0.0677937102145	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs553955759	0.0026	0.0026	0.0021	0.0030	0.0155	0.0025	0.0025	0.0148	0.0145	0.0003	0.0018	0.0059	0	0.0005	0.0139	0.0017	0.0034	0.0155	0.0019	0.0019	0.0018	0.0021	0.0157	0.0017	0.0017	0.0129	0.0118	0.0003	0.0154	0.0016	0.0049	0	0.0004	0.0068	0.0020	0.0033	0.0157	0.656	0.04757	T	0.173	0.30926	T	0.153	0.28093	B	0.046	0.24676	B	0.056906	0.22522	U	0.383809	0.791671	0.34394	D	-0.315	0.03579	N	0.18	0.60361	T	0.06	0.07444	N	0.253	0.30574	-1.0182	0.24301	T	0.071	0.28839	T	10	0.015201479	0.00319	T	0.067794	0.70268	D	0.115	0.32236	0.458	0.52427	0.524114710501	0.52058	0.24345535029889892	0.24259	0.615439663432	0.56025	0.431416332722	0.29402	T	0.010579	0.09538	T	-0.151241	0.28116	T	-0.455024	0.27144	T	0.846595525741577	0.49875	D	0.939106	0.77081	D	0.046599776	0.07827	0.04282447	0.05189	0.046599776	0.07827	0.04282447	0.05189	-7.067	0.54522	T	.	.	0.070	0.05535	B	.;.;.	.;.;.	4.219439	0.63804	24.6	0.98661567374471526	0.44345	0.70643	0.34675	D	AEFBI	0.216493	0.34173	N	-0.384201033348936	0.26032	1.417627	-0.30350875060374	0.27986	1.556885	0.00216984613625388	0.09203	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.25	2.33	0.27981	4.335000	0.59081	5.393000	0.48489	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2674:0.0:0.7326:0.0	5.737	0.17339	779	0.47767	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3955.14	34	chr9	133568440	.	G	A	3955.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.21;DP=769;ExcessHet=0.2348;FS=2.774;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-0.749;SOR=0.554	GT:AD:DP:GQ:PL	0/1:105,96:201:99:2214,0,2337	8	0	2	0
chr9	136407874	136407874	C	G	exonic	ENTR1	.	nonsynonymous SNV	ENTR1:NM_001039708:exon2:c.G135C:p.K45N,ENTR1:NM_006643:exon3:c.G285C:p.K95N,ENTR1:NM_001039707:exon4:c.G354C:p.K118N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	0.0247617259153	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238737535	5.474e-06	5.472e-06	5.446e-06	5.503e-06	7.197e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.197e-06	0	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.002	0.72154	D	0.015	0.92824	D	1.0	0.90584	D	0.973	0.72923	D	0.000004	0.62929	D	0.102092	0.999418	0.46970	D	.	.	.	1.92	0.40469	T	-1.44	0.73893	N	0.637	0.64989	-0.6079	0.64491	T	0.247	0.61647	T	10	0.31194595	0.48659	T	0.024762	0.47746	T	0.177	0.44549	0.467	0.53891	0.456368778954	0.45261	0.26924859424591646	0.26837	0.134625741518	0.15165	0.574035763741	0.49247	T	0.093106	0.60306	T	-0.161786	0.26486	T	-0.470171	0.25497	T	0.9530109167099	0.63928	D	0.877312	0.59062	D	0.4518074	0.64155	0.34925577	0.60553	0.4518074	0.64156	0.34925577	0.60553	-4.76	0.38522	T	.	.	0.743	0.79235	P	.;.;.;.	.;.;.;.	3.645506	0.51706	23.1	0.99831882302454122	0.91370	0.92390	0.55601	D	AEFGBI	0.289580	0.40119	N	0.562690822164129	0.70858	5.563735	0.511204812711106	0.68741	5.262357	0.999999999988202	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	5.34	0.75982	1.329000	0.33375	1.048000	0.23614	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.635000	0.32288	0.0:1.0:0.0:0.0	16.530	0.84204	911	0.21964	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1711.14	35	chr9	136407874	.	C	G	1711.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.17;DP=424;ExcessHet=0.2348;FS=5.377;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.49;ReadPosRankSum=1.16;SOR=1.174	GT:AD:DP:GQ:PL	0/1:32,39:71:99:1017,0,819	8	0	2	0
chr9	137186288	137186288	C	T	exonic	ANAPC2	.	nonsynonymous SNV	ANAPC2:NM_013366:exon3:c.G809A:p.R270Q	.	418	1100	3	1	0	5	0.00226757	.	.	.	3979901	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.00453105633492	0.0002	.	0.0002	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs146337536	7.808e-05	7.798e-05	5.997e-05	9.638e-05	0.0006	6.608e-05	6.15e-05	0.0004	0.0004	2.988e-05	4.474e-05	0	0	0	0.0006	4.946e-05	9.949e-05	0.0005	1.314e-05	1.313e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.496	0.07846	T	0.362	0.16865	T	0.019	0.17989	B	0.002	0.06944	B	0.000068	0.52346	D	0.162027	0.680927	0.30279	N	-0.69	0.01958	N	3.97	0.03326	T	0.64	0.02368	N	0.265	0.30004	-0.9869	0.33371	T	0.005	0.01688	T	10	0.058430403	0.06869	T	0.004531	0.11157	T	0.079	0.23065	.	.	0.31316556289	0.30919	0.1767428270055384	0.17593	0.718418956035	0.62092	0.51226747036	0.40539	T	0.304795	0.67708	T	-0.447107	0.01174	T	-0.558049	0.16560	T	0.0469700216820017	0.04960	T	0.858914	0.54988	D	0.056080732	0.10984	0.038814608	0.03834	0.056080732	0.10984	0.038814608	0.03833	-4.486	0.30705	T	0.14703866300673302	0.17009	0.070	0.03588	B	.	.	3.213577	0.43755	21.8	0.99213936142850967	0.55685	0.66699	0.33169	D	AEFGBI	0.166074	0.29262	N	-0.362109425029085	0.26829	1.467296	-0.174528761137932	0.32477	1.848036	0.999998731590434	0.74766	0.706548	0.73137	0	0.581341	0.33841	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.71	2.8	0.31881	3.067000	0.49706	2.127000	0.30755	0.599000	0.40250	1.000000	0.71638	0.535000	0.25384	0.984000	0.60418	0.0:0.7608:0.0:0.2392	5.070	0.13940	994	0.00715	.	.	.	.	.	.	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	0.001008	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.1	3556.14	34	chr9	137186288	.	C	T	3556.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.37;DP=609;ExcessHet=0.2348;FS=1.324;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.18;ReadPosRankSum=1.41;SOR=0.776	GT:AD:DP:GQ:PL	0/1:93,72:165:99:1642,0,2127	8	0	2	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	1822.95	95	chr10	825249	.	T	C	1822.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.251;DP=1130;ExcessHet=7.0302;FS=212.087;InbreedingCoeff=-0.5384;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=1.58;SOR=11.374	GT:AD:DP:GQ:PL	0/1:82,44:126:99:266,0,1213	3	0	7	0
chr10	1048876	1048876	C	T	exonic	IDI1	.	nonsynonymous SNV	IDI1:NM_004508:exon1:c.G128A:p.R43Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00393010655365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs939147873	8.942e-06	1.163e-05	1.369e-05	4.149e-06	0.0004	4.99e-06	3.85e-06	6.568e-05	2.661e-05	9.167e-05	0	0	0	0	0.0004	5.41e-06	3.338e-05	0	3.939e-05	3.937e-05	3.855e-05	4.028e-05	0.0001	1.714e-05	1.129e-05	4.728e-05	3.046e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0	0.538	0.06847	T	0.321	0.19073	T	0.684	0.41517	P	0.015	0.17295	B	0.000292	0.00554	U	9.024590	1	0.08975	N	.	.	.	.	.	.	-0.88	0.23808	N	0.09	0.06854	-1.0538	0.13359	T	0.021	0.08917	T	8	0.08268055	0.13672	T	0.00393	0.09274	T	0.044	0.11924	0.467	0.53891	0.16115917748	0.15686	0.24144742330587288	0.24058	0.676131023117	0.59746	0.31203186512	0.12214	T	.	.	.	-0.295135	0.09126	T	-0.661717	0.08150	T	0.395230501890182	0.28762	T	0.464354	0.13557	T	.	.	.	.	.	.	.	.	-4.917	0.35925	T	.	.	0.096	0.15385	B	.	.	0.968889	0.13460	9.968	0.97307250059381412	0.33308	0.03912	0.09295	N	ALL	0.043256	0.06816	N	-1.07162524810199	0.07170	0.3322708	-1.28553450449108	0.04625	0.2186109	0.999999995919553	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	0.91	-1.82	0.07433	-0.333000	0.07938	-2.125000	0.04176	0.464000	0.21668	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.3116:0.3771:0.3114:0.0	2.598	0.04564	624	0.65661	.	.	.	.	.	.	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	0.001514	0.000000	0.001362	0.000000	0.000000	0.008621	0.006135	0.000000	0.05	303.43	34	chr10	1048876	.	C	T	303.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.06;DP=354;ExcessHet=0;FS=2.851;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.9;ReadPosRankSum=-0.164;SOR=1.329	GT:AD:DP:GQ:PL	0/1:30,14:44:99:315,0,636	9	0	1	0
chr10	15254845	15254845	T	G	exonic	FAM171A1	.	nonsynonymous SNV	FAM171A1:NM_001010924:exon4:c.A453C:p.R151S	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458	0.0384843318121	0.0002	0.000199681	9.108e-05	0	0	0	0	9.032e-05	0	0.0003	7.76e-05	12	154602	rs141312276	9.441e-05	9.44e-05	8.44e-05	0.0001	0.0016	8.135e-05	7.651e-05	0.0008	0.0006	0	8.945e-05	3.826e-05	0	0	0.0016	7.285e-05	0.0002	0.0004	9.192e-05	9.186e-05	7.709e-05	0.0001	0.0006	5.523e-05	4.361e-05	0.0002	8.992e-05	0	0	0.0002	0	0	0	0	8.82e-05	0.0009	0.0006	0.002	0.72154	D	0.003	0.76473	D	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	0.999826	0.49512	D	2.585	0.75554	M	0.98	0.42122	T	-3.96	0.73579	D	0.914	0.91621	-0.6677	0.61932	T	0.203	0.55975	T	10	0.7003955	0.72406	D	0.038484	0.58251	D	0.458	0.75619	0.767	0.89452	0.444421179237	0.44065	0.8194690643763637	0.81903	0.911059692479	0.71063	0.602344751358	0.53236	T	0.241091	0.60954	T	-0.00641586	0.50765	T	0.0533315	0.73803	D	0.502892076969147	0.32735	D	0.938506	0.76886	D	0.8466512	0.87089	0.807068	0.88714	0.8466512	0.87090	0.807068	0.88715	-7.885	0.60284	D	.	.	0.938	0.85740	P	.	.	3.201870	0.43545	21.8	0.99431174282999113	0.64276	0.45154	0.27476	N	AEFDBHCI	0.173400	0.30048	N	-0.0873509381919131	0.37947	2.215149	-0.31406663526196	0.27644	1.535	0.99994705611437	0.47345	0.766844	0.99359	0	0.552344	0.17405	0	0.851219	0.99655	0	0.735409	0.98432	0	.	.	5.11	-5.26	0.02559	-0.076000	0.11374	0.001000	0.13291	0.665000	0.62972	0.809000	0.29839	0.273000	0.24060	0.998000	0.85391	0.0:0.3526:0.0:0.6474	13.881	0.63185	716	0.55970	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	838.43	33	chr10	15254845	.	T	G	838.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.44;DP=381;ExcessHet=0;FS=2.21;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.97;ReadPosRankSum=0.223;SOR=1.061	GT:AD:DP:GQ:PL	0/1:27,33:60:99:850,0,598	9	0	1	0
chr10	17321030	17321030	T	G	exonic	ST8SIA6	.	nonsynonymous SNV	ST8SIA6:NM_001004470:exon8:c.A1045C:p.T349P,ST8SIA6:NM_001345961:exon9:c.A592C:p.T198P	.	.	.	.	.	.	.	.	.	.	.	3323551	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.209	0.0172741162593	.	.	9.064e-05	0	0	0	0	0.0002	0	0	7.76e-05	12	154602	rs200001781	5.131e-05	5.13e-05	4.356e-05	5.913e-05	6.205e-05	4.192e-05	3.823e-05	4.987e-05	4.568e-05	0	2.236e-05	0	0	0	0	6.205e-05	8.279e-05	0	7.228e-05	7.219e-05	7.713e-05	6.72e-05	0.0001	3.971e-05	3.127e-05	6.807e-05	5.089e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.123	0.27544	T	0.056	0.46632	T	0.988	0.62325	D	0.796	0.58006	P	0.004635	0.33547	N	0.372956	1	0.08975	N	2.545	0.74286	M	1.85	0.24472	T	-0.5	0.15782	N	0.126	0.11912	-0.9193	0.45648	T	0.124	0.42694	T	10	0.15977332	0.30012	T	0.017274	0.38900	T	0.209	0.49871	0.543	0.65589	0.425028116352	0.42120	0.6001936262529679	0.59950	0.234047298348	0.25940	0.391147613525	0.23832	T	0.006823	0.06247	T	-0.259356	0.12976	T	-0.384622	0.35181	T	0.322705049179757	0.25931	T	0.738826	0.35731	T	0.10624513	0.25122	0.1420453	0.33806	0.10624513	0.25122	0.1420453	0.33805	-11.299	0.81272	D	.	.	0.341	0.55950	A	.	.	4.088153	0.60867	24.3	0.994365616396782	0.64522	0.93069	0.57249	D	AEFGBI	0.559498	0.56829	D	0.338042495215457	0.58111	3.981604	0.2261429026486	0.51304	3.313974	5.89381941672762E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.48	4.35	0.51454	1.497000	0.35257	4.864000	0.45499	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.963000	0.52385	0.147:0.15:0.0:0.7031	4.832	0.12808	861	0.33516	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1789.43	33	chr10	17321030	.	T	G	1789.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.7;DP=492;ExcessHet=0;FS=3.629;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.16;SOR=0.464	GT:AD:DP:GQ:PL	0/1:95,73:168:99:1801,0,2379	9	0	1	0
chr10	19280171	19280171	G	T	exonic	MALRD1	.	nonsynonymous SNV	MALRD1:NM_001142308:exon20:c.G3204T:p.Q1068H	.	435	1069	17	1	0	19	0.00880853	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	.	.	0.00439297	0.0124	0.0019	0.0067	0	0.0012	0.0165	0.0163	0.0149	0.0026455	409	154602	rs75389448	0.0102	0.0098	0.0101	0.0103	0.0159	0.0101	0.0100	0.0133	0.0123	0.0014	0.0042	0.0244	2.818e-05	0.0007	0.0159	0.0108	0.0110	0.0128	0.0071	0.0071	0.0072	0.0069	0.0145	0.0067	0.0066	0.0118	0.0108	0.0022	0.0274	0.0073	0.0282	0.0002	0.0003	0.0136	0.0097	0.0052	0.0145	0.112	0.28900	T	0.007	0.70582	D	.	.	.	.	.	.	.	.	.	.	0.997036	0.22815	N	.	.	.	-3.85	0.95859	D	-2.82	0.59545	D	0.558	0.58287	0.471	0.90138	D	0.786	0.92754	D	5	0.009454995	0.00213	T	.	.	.	0.505	0.78662	.	.	0.597897742083	0.59469	0.5834241005166534	0.58271	.	.	.	.	.	.	.	.	-0.210391	0.19324	T	-0.0639573	0.66053	T	0.0241980826449093	0.01171	T	0.566943	0.20077	T	0.06680292	0.14408	0.2154254	0.46132	0.06680292	0.14407	0.2154254	0.46131	-7.011	0.54114	T	.	.	0.207	0.48766	B	.;.	.;.	3.344621	0.46102	22.2	0.99680637092256863	0.79241	0.85297	0.44417	D	AEFI	0.225199	0.34932	N	-0.0493374536242523	0.39632	2.340	-0.0648164291914355	0.36855	2.150277	5.54155902284327E-4	0.07304	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	3.66	0.41111	2.171000	0.42080	5.523000	0.48827	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.2358:0.0:0.7642:0.0	9.029	0.35409	923	0.18507	Low-density lipoprotein (LDL) receptor class A, conserved site;Low-density lipoprotein (LDL) receptor class A, conserved site	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	559.43	34	chr10	19280171	.	G	T	559.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.044;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.61;ReadPosRankSum=-0.878;SOR=0.76	GT:AD:DP:GQ:PL	0/1:36,29:65:99:571,0,816	9	0	1	0
chr10	35608199	35608199	G	A	exonic	GJD4	.	nonsynonymous SNV	GJD4:NM_153368:exon2:c.G686A:p.G229E	.	406	1099	16	1	0	18	0.00812274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0496399882724	.	0.00139776	0.0012	0	0	0	0	0.0002	0.0053	0.0054	0.0005498	85	154602	rs538629092	0.0003	0.0003	0.0002	0.0005	0.0046	0.0003	0.0003	0.0042	0.0041	0.0002	0.0003	0	0	0	0.0031	2.804e-05	0.0006	0.0046	0.0004	0.0004	0.0003	0.0006	0.0062	0.0004	0.0003	0.0045	0.0039	7.228e-05	0	0.0020	0	0.0002	0	0	2.942e-05	0.0005	0.0062	0.646	0.04912	T	0.779	0.04344	T	0.675	0.41275	P	0.163	0.34892	B	0.090348	0.02448	N	1.834020	1	0.08975	N	1.59	0.40313	L	-4.47	0.97583	D	-0.98	0.25986	N	0.121	0.11197	0.161	0.85240	D	0.724	0.90543	D	10	0.004319817	0.00087	T	0.04964	0.63902	D	0.298	0.61843	0.294	0.25720	0.561027722634	0.55763	0.3377256414981641	0.33685	0.357799759759	0.37491	0.339733570814	0.16399	T	0.061685	0.31720	T	-0.301089	0.08558	T	-0.203903	0.54275	T	0.00968756193926473	0.00126	T	0.336266	0.07184	T	0.035647098	0.04236	0.052975927	0.08833	0.035647098	0.04236	0.052975927	0.08832	-3.909	0.22438	T	.	.	0.114	0.22573	B	.	.	1.160027	0.15487	11.89	0.90125036704138561	0.19405	0.02276	0.06567	N	AEFDBI	0.044468	0.07156	N	-0.858748689427508	0.11835	0.573381	-0.926619864055949	0.11466	0.5843499	0.999950510641473	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.554799	0.18163	0	.	.	4.76	1.12	0.19700	1.581000	0.36167	0.505000	0.19029	0.575000	0.29119	0.007000	0.17678	0.000000	0.08366	0.000000	0.00833	0.0:0.1727:0.4157:0.4116	6.478	0.21248	733	0.53988	.	.	.	.	.	.	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	0.006639	0.000000	0.008197	0.014793	0.000000	0.000000	0.000000	0.011364	0.05	894.43	33	chr10	35608199	.	G	A	894.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.228;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.092;SOR=0.693	GT:AD:DP:GQ:PL	0/1:37,37:74:99:906,0,880	9	0	1	0
chr10	37219028	37219028	A	G	exonic	ANKRD30A	.	nonsynonymous SNV	ANKRD30A:NM_052997:exon34:c.A3148G:p.M1050V	.	501	1019	1	1	0	3	0.00146987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00153891314195	0.0018	0.000599042	0.0023	0.0005	0.0010	0	0.0006	0.0034	0	0.0020	0.0023868	369	154602	rs193176695	0.0036	0.0035	0.0036	0.0035	0.0042	0.0035	0.0034	0.0041	0.0040	0.0005	0.0013	0.0010	0	0.0013	0.0028	0.0042	0.0031	0.0019	0.0020	0.0020	0.0023	0.0017	0.0038	0.0018	0.0017	0.0034	0.0032	0.0003	0	0.0009	0.0009	0	0.0005	0.0068	0.0038	0.0019	0.0015	0.01	0.56456	D	0.482	0.11864	T	0.002	0.09854	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.54	0.38927	L	2.45	0.15028	T	-2.1	0.49519	N	0.037	0.05929	-0.9990	0.30199	T	0.033	0.14073	T	9	0.005734384	0.00128	T	0.001539	0.02420	T	0.044	0.11924	.	.	0.321108458156	0.31720	0.007644824529892	0.00730	0.0101459814769	0.00935	0.702099621296	0.67447	T	0.027486	0.28876	T	-0.71165	0.00031	T	-0.793921	0.02059	T	0.0201471176715606	0.00715	T	0.464354	0.13557	T	0.054219108	0.10372	0.101039	0.24175	0.054219108	0.10372	0.101039	0.24175	-4.432	0.29988	T	.	.	0.167	0.36850	B	.;.;.;.	.;.;.;.	-0.218899	0.02995	0.451	0.31078684548890767	0.01733	0.02115	0.06256	N	AEFI	0.069273	0.13704	N	-1.39162260527824	0.02716	0.1203251	-1.46618924489745	0.02626	0.1211416	0.999851411373969	0.44174	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.81	0.215	0.14529	1.358000	0.33706	1.183000	0.24710	-0.518000	0.04984	0.002000	0.15269	0.000000	0.08366	0.028000	0.12845	0.6623:0.21:0.1277:0.0	4.047	0.09261	934	0.15400	CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil domain;CCDC144C-like, coiled-coil 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	0.000557	0.000000	0.001366	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	510.43	33	chr10	37219028	.	A	G	510.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.3;DP=371;ExcessHet=0;FS=1.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=0.008;SOR=0.874	GT:AD:DP:GQ:PL	0/1:36,22:58:99:522,0,892	9	0	1	0
chr10	43481660	43481660	G	A	exonic	ZNF487	.	nonsynonymous SNV	ZNF487:NM_001355447:exon3:c.G374A:p.S125N,ZNF487:NM_001355449:exon3:c.G269A:p.S90N,ZNF487:NM_001355450:exon3:c.G269A:p.S90N,ZNF487:NM_001355444:exon4:c.G362A:p.S121N,ZNF487:NM_001355445:exon4:c.G362A:p.S121N,ZNF487:NM_001355448:exon4:c.G470A:p.S157N,ZNF487:NM_001355446:exon5:c.G362A:p.S121N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000550353201086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.873e-06	1.59e-06	0	3.477e-06	3.279e-06	0	0	.	.	0	0	0	0	0	0	3.279e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.19	0.18724	T	2.0	0.01024	N	0.024	0.00445	-0.9681	0.37592	T	0.027	0.11441	T	8	0.030618846	0.01189	T	5.5E-4	0.00208	T	0.018	0.03083	0.328	0.31196	0.0297737177859	0.01360	.	.	0.392667314243	0.40446	0.384962648153	0.22958	T	.	.	.	-0.327952	0.06268	T	-0.708857	0.05354	T	0.0599731081836641	0.07165	T	0.29617	0.05481	T	.	.	.	.	.	.	.	.	-3.051	0.10741	T	.	.	.	.	.	.;.	.;.	0.035269	0.04530	1.226	0.87925955858789773	0.17585	0.00162	0.00966	N	AEFBI	0.015865	0.00323	N	-1.23718657285096	0.04471	0.2018703	-1.35278657840922	0.03773	0.1766945	4.11571877177577E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	1.71	-0.771	0.10448	-0.688000	0.05251	-13.729000	0.00442	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.298000	0.24452	0.6338:0.0:0.3662:0.0	5.243	0.14799	842	0.36989	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	967.43	39	chr10	43481660	.	G	A	967.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.384;DP=401;ExcessHet=0;FS=0.988;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.86;ReadPosRankSum=0.022;SOR=0.549	GT:AD:DP:GQ:PL	0/1:24,37:61:99:979,0,659	9	0	1	0
chr10	47502957	47502957	G	A	exonic	AGAP9	.	nonsynonymous SNV	AGAP9:NM_001190810:exon8:c.C1172T:p.P391L	.	440	1073	8	1	0	10	0.00463822	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.747455093348	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1181170818	0.0006	0.0006	0.0006	0.0006	0.0035	0.0006	0.0006	0.0023	0.0019	0.0002	9.179e-05	3.858e-05	2.553e-05	3.767e-05	0.0035	0.0007	0.0004	0.0009	0.0004	0.0004	0.0005	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0003	0	0.0003	0	0	0.0003	0	0.0007	0	0.0002	0.205	0.20002	T	0.107	0.37730	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.68	0.12371	T	-5.11	0.83092	D	0.221	0.24758	.	.	.	.	.	.	.	0.17645505	0.32630	T	.	.	.	.	.	.	.	.	.	0.03470515512891299	0.03417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.754325	0.37688	T	.	.	.	.	.	.	.	.	-3.704	0.19377	T	.	.	0.076	0.05890	B	.	.	2.631763	0.34221	19.57	.	.	.	.	.	.	0.173174	0.30025	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.293000	0.43219	-0.011000	0.13060	0.164000	0.17730	0.995000	0.38783	0.012000	0.20211	0.029000	0.12982	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	4770.45	34	chr10	47502957	.	G	A	4770.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.72;DP=792;ExcessHet=0.7463;FS=1.303;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=46.62;MQRankSum=-3.829;QD=13.99;ReadPosRankSum=0.261;SOR=0.779	GT:AD:DP:GQ:PL	0/1:47,52:99:99:1337,0,1097	7	0	3	0
chr10	47503089	47503098	AGGGATGGCC	-	exonic	AGAP9	.	stopgain	AGAP9:NM_001190810:exon8:c.1031_1040del:p.W344*	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1190393193	2.6e-05	2.599e-05	1.634e-05	3.575e-05	0.0004	1.933e-05	1.692e-05	7.999e-05	6.237e-05	0	0	3.826e-05	0	0	0.0004	1.888e-05	3.312e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4706.1	34	chr10	47503088	.	TAGGGATGGCC	T	4706.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.38;DP=1144;ExcessHet=0.2348;FS=0.593;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=45.39;MQRankSum=1.45;QD=8.88;ReadPosRankSum=-1.471;SOR=0.76	GT:AD:DP:GQ:PL	0/1:206,61:267:99:1942,0,8343	8	0	2	0
chr10	50104144	50104144	G	A	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>A;NM_001330102:exon18:c.1737+1G>A;NM_001005751:exon18:c.1737+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0463318	0.57869	T	-0.171224	0.57330	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.720867	0.93226	33	0.97432250228662731	0.33931	0.91899	0.54504	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2222	564.7	40	chr10	50104144	.	G	A	564.7	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-2.768;DP=636;ExcessHet=1.5895;FS=154.041;InbreedingCoeff=-0.3296;MLEAC=4;MLEAF=0.222;MQ=55.49;MQRankSum=0.493;QD=2.05;ReadPosRankSum=1.02;SOR=9.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,9:45:83:0|1:50104141_G_C:83,0,1139:50104141	5	0	4	1
chr10	69239079	69239079	G	A	exonic	HKDC1	.	nonsynonymous SNV	HKDC1:NM_025130:exon5:c.G533A:p.R178Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	3437461	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.356	0.11148151871	.	.	1.668e-05	0	0	0	0	3.02e-05	0	0	1.94e-05	3	154602	rs774349922	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.238e-05	1.052e-05	1.295e-05	1.106e-05	2.988e-05	0	0	0	0	0.0002	1.979e-05	3.313e-05	0	3.943e-05	3.94e-05	6.424e-05	1.345e-05	8.817e-05	1.715e-05	1.129e-05	3.761e-05	2.574e-05	0	0	0	0	0	0	0	8.817e-05	0	0	0.004	0.65419	D	0.008	0.67890	D	0.011	0.15914	B	0.01	0.14941	B	0.000004	0.62929	D	0.060279	0.999987	0.18612	N	1.54	0.38927	L	-5.28	0.98949	D	-0.24	0.10833	N	0.225	0.25253	0.431	0.89560	D	0.885	0.96182	D	10	0.27611747	0.45172	T	0.111482	0.78928	D	0.356	0.67691	.	.	0.889291552233	0.88820	0.6107799162021537	0.61009	0.434351109688	0.43575	0.29500156641	0.09658	T	0.261889	0.63341	T	-0.0198029	0.48883	T	-0.084694	0.64559	T	0.730821013450623	0.42252	D	0.918808	0.70803	D	0.49170786	0.66604	0.35155857	0.60748	0.49170786	0.66605	0.35155857	0.60747	-5.175	0.38687	T	0.2120780879925731	0.28449	0.116	0.23360	B	.	.	3.699865	0.52758	23.3	0.99840806751727307	0.92143	0.87585	0.47173	D	AEFBI	0.587865	0.58535	D	-0.274979904005011	0.30118	1.676399	-0.181916697441266	0.32201	1.829682	0.999998842771445	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	4.92	4.92	0.64147	4.716000	0.61607	.	.	0.676000	0.76740	0.902000	0.31475	1.000000	0.68203	0.218000	0.22407	0.0:0.0:1.0:0.0	18.675	0.91486	758	0.50837	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	816.43	40	chr10	69239079	.	G	A	816.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=417;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-0.655;SOR=1.038	GT:AD:DP:GQ:PL	0/1:36,33:69:99:828,0,773	9	0	1	0
chr10	71777860	71777860	G	A	exonic	CDH23	.	nonsynonymous SNV	CDH23:NM_022124:exon37:c.G5026A:p.A1676T	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	1509	13	0	0	13	0.00428901	.	.	.	55126	not_provided|not_specified|Usher_syndrome_type_1|Autosomal_recessive_nonsyndromic_hearing_loss_12|Usher_syndrome_type_1D	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010168,MedGen:C1568247,OMIM:276900,Orphanet:231169,Orphanet:886|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orphanet:90636|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orphanet:231169,Orphanet:886	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.048	.	0.0002	0.00479233	0.0033	0	0.0003	0.0001	0	0.0003	0.0056	0.0227	0.0028201	436	154602	rs56043301	0.0015	0.0015	0.0009	0.0022	0.0219	0.0015	0.0015	0.0211	0.0208	5.974e-05	6.708e-05	0	2.519e-05	1.873e-05	0.0007	0.0002	0.0015	0.0219	0.0009	0.0009	0.0005	0.0013	0.0249	0.0008	0.0007	0.0213	0.0199	9.632e-05	0	6.539e-05	0	0	0	0	0.0001	0	0.0249	0.354	0.12148	T	0.22	0.25907	T	0.034	0.20480	B	0.027	0.21085	B	0.039516	0.24162	N	0.433926	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.64	0.18670	N	0.097	0.07811	-1.0219	0.23096	T	0.033	0.14290	T	9	0.0066916347	0.00152	T	.	.	.	0.048	0.13305	.	.	0.386882687439	0.38305	0.3721719975764081	0.37131	.	.	0.283245682716	0.07950	T	0.013773	0.48136	T	-0.521253	0.00433	T	-0.503935	0.21940	T	0.0216951427282077	0.00875	T	0.756224	0.37950	T	0.043838363	0.06905	0.08517269	0.19646	0.040775653	0.05882	0.09209885	0.21686	-6.309	0.48793	T	.	.	0.078	0.06990	B	.;.	.;.	1.540296	0.19754	14.42	0.9891067170951231	0.48363	0.11442	0.16637	N	AEFGBI	0.098456	0.19840	N	-0.892614853736571	0.11017	0.529449	-0.809736197666211	0.14261	0.744189	0.999929085583321	0.46280	0.57788	0.32782	0	0.547309	0.14657	0	0.608075	0.38828	0	0.567339	0.31927	0	.	.	5.76	1.52	0.22158	0.864000	0.27581	1.140000	0.24397	0.676000	0.76740	0.002000	0.15269	0.235000	0.23811	0.903000	0.43903	0.1355:0.1169:0.6051:0.1426	4.308	0.10399	828	0.39726	Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.003021	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	720.43	37	chr10	71777860	.	G	A	720.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.142;DP=411;ExcessHet=0;FS=5.54;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.246;SOR=0.243	GT:AD:DP:GQ:PL	0/1:37,31:68:99:732,0,1079	9	0	1	0
chr10	79842039	79842039	G	A	exonic	NUTM2E	.	nonsynonymous SNV	NUTM2E:NM_001355263:exon4:c.G299A:p.G100D	.	702	811	1	8	0	17	0.0103722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.0157929363721	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301685879	0.0003	0.0003	0.0002	0.0003	0.0039	0.0003	0.0002	0.0022	0.0017	0.0001	5.681e-05	0	0	0	0.0039	0.0003	0.0003	0.0008	7.783e-05	0.0002	7.59e-05	7.986e-05	0.0003	3.84e-05	2.811e-05	4.997e-05	3.225e-05	2.854e-05	0	9.386e-05	0	0	0	0	0.0001	0	0.0003	0.027	0.46513	D	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.65	0.12676	T	-0.34	0.12661	N	0.117	0.24634	-1.0157	0.25110	T	0.036	0.15596	T	5	0.1156123	0.21786	T	0.015793	0.36715	T	0.032	0.07718	0.655	0.79276	0.12205267543	0.11705	0.04845181486122116	0.04788	.	.	.	.	.	0.007479	0.06883	T	-0.501195	0.00563	T	-0.633765	0.10131	T	0.0370277158538044	0.03159	T	0.582242	0.21111	T	0.15302628	0.34708	0.1937799	0.42966	0.15302628	0.34708	0.1937799	0.42965	-4.563	0.31703	T	.	.	0.157	0.34797	B	.;.	.;.	0.959560	0.13359	9.865	0.59411582530257734	0.06218	0.00807	0.03278	N	AEFI	0.032579	0.03706	N	-0.602864344156365	0.18857	0.9824356	-0.823243879813379	0.13933	0.7254091	1.55792357979817E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.709	0.709	0.17307	1.216000	0.32046	-0.062000	0.12412	0.339000	0.19733	0.023000	0.19925	0.000000	0.08366	0.044000	0.14658	.	.	.	709	0.56835	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07143	1202.65	35	chr10	79842039	.	G	A	1202.65	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-1.247;DP=374;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.071;MQ=36.5;MQRankSum=-5.865;QD=7.66;ReadPosRankSum=-1.466;SOR=0.659	GT:AD:DP:GQ:PL	0/1:96,61:157:99:1212,0,2318	6	0	1	3
chr10	87226149	87226149	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon1:c.C319T:p.H107Y	.	1487	32	0	3	0	6	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	.	0.0129792	0.0047	0	0.0065	.	0	0.0072	0	0.1111	0.0012678	196	154602	rs78856879	0.0208	0.0029	0.0194	0.0224	0.2256	0.0198	0.0194	0.1928	0.1804	0.0007	0.0846	0	0	0	0	0.0232	0.0164	0.2256	0.0002	0.0074	0	0.0005	0.0012	5.721e-05	3.055e-05	0.0002	7.046e-05	0	0	0.0012	0	0	0	0	0.0010	0	0	0.618	0.05341	T	0.098	0.46862	T	0.659	0.40886	P	0.403	0.44588	B	.	.	.	.	1	0.08975	N	.	.	.	2.81	0.21473	T	-0.21	0.10308	N	0.195	0.21449	-1.0471	0.15217	T	0.026	0.11309	T	9	0.0029922426	0.00049	T	.	.	.	0.087	0.25287	.	.	.	.	0.012261439894405911	0.01185	.	.	0.606433749199	0.53813	T	0.001635	0.01065	T	-0.341822	0.05262	T	-0.72878	0.04383	T	0.0845391506841971	0.10558	T	0.476552	0.14308	T	0.03928617	0.05395	0.06041585	0.11501	0.03928617	0.05394	0.06041585	0.11500	-4.642	0.32695	T	.	.	0.078	0.12797	B	.;.	.;.	1.149009	0.15371	11.80	0.52149812966942932	0.04694	0.02677	0.07305	N	AEFI	0.029649	0.02839	N	-1.04507266648348	0.07685	0.3578228	-1.15891487746776	0.06610	0.3187014	5.31718313235543E-5	0.04171	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.32	0.354	0.15300	0.244000	0.17899	-3.032000	0.03123	-0.555000	0.04881	0.897000	0.31356	0.000000	0.08366	0.005000	0.06747	0.0:0.7433:0.0:0.2567	3.743	0.08063	926	0.17793	.;.	.	.	.	.	.	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	0.096774	0.166667	0.125000	0.038462	0	0.000000	0.111111	0.000000	0.5	44.51	.	chr10	87226149	.	C	T	44.51	.	AC=2;AF=0.5;AN=4;DP=3;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.75;MQ=24;QD=22.26;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	1	1	0	8
chr10	87232948	87232948	C	T	exonic	NUTM2A	.	nonsynonymous SNV	NUTM2A:NM_001099338:exon5:c.C1697T:p.T566I	.	477	972	70	3	0	76	0.0376238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	0.0259585	0.0194	0.0025	0	0.0685	0.0259	0.0249	0	0	0.0049946	130	26028	rs202126908	0.0012	0.0039	0.0010	0.0013	0.0044	0.0011	0.0011	0.0039	0.0037	0.0008	0.0009	0.0057	0.0044	0.0016	0.0019	0.0008	0.0017	0.0025	0.0033	0.0080	0.0032	0.0034	0.0112	0.0030	0.0029	0.0087	0.0078	0.0032	0.0037	0.0028	0.0142	0.0112	0.0028	0.0043	0.0024	0.0016	0.0032	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.559385	0.11352	N	0.786733	1	0.08975	N	.	.	.	3.4	0.14284	T	4.16	0.00060	N	0.057	0.03175	-0.9445	0.41895	T	0.006	0.02018	T	10	0.0018707514	0.00025	T	.	.	.	0.058	0.16647	.	.	0.043077524339	0.03247	0.011859587337732114	0.01145	.	.	0.664815962315	0.62098	T	0.003499	0.02909	T	-0.256714	0.13287	T	-0.606528	0.12270	T	0.00567222257557896	0.00062	T	0.0425957	0.00300	T	0.019963365	0.00539	0.03269047	0.02043	0.019963365	0.00539	0.03269047	0.02043	3.966	0.00009	T	.	.	0.051	0.00187	B	.;.	.;.	-0.721230	0.01272	0.067	0.74543639528431049	0.10734	0.00003	0.00079	N	AEFI	0.011378	0.00100	N	-1.99035120200077	0.00222	0.009508936	-1.91549691999944	0.00456	0.02018859	1.31856290869846E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.29	1.29	0.20717	0.255000	0.18102	-0.265000	0.10395	-0.628000	0.04523	0.029000	0.20367	0.000000	0.08366	0.396000	0.26692	0.0:0.2359:0.0:0.7641	3.588	0.07525	922	0.19044	Nuclear Testis  protein, N-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008900	0.011364	0.014085	0.000000	0.000000	0.000000	0.010638	0.000000	0.1667	418.26	60	chr10	87232948	.	C	T	418.26	.	AC=3;AF=0.167;AN=18;BaseQRankSum=2.01;DP=311;ExcessHet=0.7463;FS=34.917;InbreedingCoeff=-0.2084;MLEAC=3;MLEAF=0.167;MQ=31.56;MQRankSum=-3.567;QD=4.4;ReadPosRankSum=0.595;SOR=4.375	GT:AD:DP:GQ:PL	0/1:14,6:20:99:112,0,388	6	0	3	1
chr10	88831902	88831902	C	T	exonic	ANKRD22	.	nonsynonymous SNV	ANKRD22:NM_144590:exon2:c.G146A:p.R49K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.342	.	.	0.00379393	0.0017	0	0	0.0001	0	0	0.0011	0.0125	0.0014942	231	154602	rs199828548	0.0007	0.0007	0.0004	0.0011	0.0117	0.0007	0.0007	0.0111	0.0108	0	0	3.83e-05	5.044e-05	0	0.0005	1.169e-05	0.0008	0.0117	0.0005	0.0005	0.0003	0.0007	0.0151	0.0004	0.0004	0.0123	0.0113	2.407e-05	0	0	0	0	0	0	0	0	0.0151	0.55	0.06585	T	0.504	0.11041	T	0.992	0.64738	D	0.989	0.78396	D	0.000000	0.84330	D	0.048289	0.999914	0.51042	D	0.95	0.23787	L	-0.1	0.64264	T	-0.97	0.25770	N	0.298	0.33687	-0.7873	0.55886	T	0.238	0.60511	T	10	0.0077414513	0.00176	T	.	.	.	0.342	0.66392	0.549	0.66436	0.602748970639	0.59958	0.6768271332785227	0.67621	0.264699697906	0.29017	0.563926935196	0.47822	T	0.001289	0.00766	T	-0.351869	0.04610	T	-0.267181	0.48105	T	0.0567543651731227	0.06647	T	0.729627	0.34527	T	0.32869035	0.55364	0.28161442	0.54144	0.32869035	0.55364	0.28161442	0.54143	-3.255	0.13164	T	.	.	0.285	0.51780	B	.	.	3.365716	0.46485	22.3	0.9503063557062803	0.26025	0.85483	0.44620	D	AEFDGBIJ	0.310979	0.41684	N	0.14580209037527	0.48613	3.071463	0.15647271286442	0.47486	2.978078	0.999999996571427	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.597571	0.31856	0	0.530356	0.10902	0	.	.	5.33	5.33	0.75683	2.096000	0.41363	7.660000	0.64180	0.599000	0.40250	0.895000	0.31310	0.998000	0.33993	0.255000	0.23391	0.0:1.0:0.0:0.0	16.524	0.84171	767	0.49651	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1138.43	34	chr10	88831902	.	C	T	1138.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.13;DP=447;ExcessHet=0;FS=1.364;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=-0.333;SOR=0.56	GT:AD:DP:GQ:PL	0/1:87,55:142:99:1150,0,2099	9	0	1	0
chr10	97751437	97751437	A	G	exonic	ZFYVE27	.	nonsynonymous SNV	ZFYVE27:NM_001174122:exon5:c.A497G:p.D166G,ZFYVE27:NM_001174120:exon6:c.A593G:p.D198G,ZFYVE27:NM_001174121:exon6:c.A572G:p.D191G,ZFYVE27:NM_001002261:exon7:c.A866G:p.D289G,ZFYVE27:NM_001174119:exon7:c.A755G:p.D252G,ZFYVE27:NM_001002262:exon8:c.A851G:p.D284G,ZFYVE27:NM_144588:exon8:c.A851G:p.D284G	Spastic paraplegia 33, autosomal dominant, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	2251047	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.420	0.0467174990829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.157e-06	6.156e-06	8.169e-06	4.126e-06	8.095e-06	2.9e-06	2.1e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.54	0.74080	M	0.42	0.56937	T	-3.96	0.74193	D	0.784	0.84090	-0.5863	0.65368	T	0.252	0.62166	T	10	0.51450616	0.62288	D	0.046717	0.62587	D	0.420	0.72930	0.165	0.06955	0.541920164434	0.53844	0.4258647927336751	0.42503	.	.	0.737482905388	0.72602	T	0.166947	0.51339	T	0.14198	0.68513	D	-0.0338326	0.68114	D	0.994542062282562	0.85897	D	0.978802	0.95770	D	0.7696153	0.82024	0.71766096	0.83333	0.7696153	0.82026	0.71766096	0.83334	-5.804	0.46138	T	.	.	0.572	0.73062	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.860620	0.93854	33	0.99858508282735281	0.93729	0.99125	0.91593	D	AEFBI	0.927122	0.90928	D	0.651746746151687	0.76482	6.494674	0.676479236351433	0.80595	7.334211	0.999973804840649	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	5.55	0.83298	8.249000	0.89773	11.292000	0.92056	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.690	0.77204	493	0.76500	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1412.43	36	chr10	97751437	.	A	G	1412.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.55;DP=455;ExcessHet=0;FS=3.051;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=-0.616;SOR=0.877	GT:AD:DP:GQ:PL	0/1:82,58:140:99:1424,0,1941	9	0	1	0
chr10	102149968	102149968	A	G	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon12:c.A4142G:p.K1381R,PPRC1:NM_001288728:exon14:c.A4568G:p.K1523R,PPRC1:NM_015062:exon14:c.A4934G:p.K1645R	.	.	.	.	.	.	.	.	.	.	.	2262677	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.126	0.00820390655603	7.7e-05	.	3.295e-05	0	0	0	0	5.994e-05	0	0	2.59e-05	4	154602	rs137986551	1.163e-05	1.163e-05	1.089e-05	1.238e-05	0.0003	7.09e-06	5.79e-06	6.092e-05	2.521e-05	5.974e-05	4.472e-05	0	0	0	0.0003	9.894e-06	0	0	3.944e-05	3.94e-05	2.571e-05	5.381e-05	7.35e-05	1.716e-05	1.13e-05	2.846e-05	1.858e-05	2.414e-05	0	0	0	0	0	0	7.35e-05	0	0	0.064	0.36509	T	0.302	0.20228	T	0.787	0.44504	P	0.32	0.41729	B	0.000000	0.84330	D	0.049407	0.99587	0.42900	D	1.185	0.30054	L	1.67	0.39050	T	-1.51	0.37178	N	0.454	0.49146	-0.8911	0.48837	T	0.088	0.33941	T	10	0.10530254	0.19457	T	0.008204	0.21725	T	0.126	0.34673	.	.	0.082315109003	0.07666	0.5287747555345306	0.52801	0.947446290278	0.72469	0.668009579182	0.62554	T	0.085414	0.53301	T	-0.119389	0.33225	T	-0.227742	0.51991	T	0.111615307629108	0.13589	T	0.888711	0.63671	D	0.21454161	0.43862	0.17444234	0.39840	0.21454161	0.43862	0.17444234	0.39839	-5.949	0.45850	T	.	.	0.181	0.52368	B	.;.;.	.;.;.	3.848172	0.55733	23.6	0.99725882181227321	0.82406	0.96869	0.71382	D	AEFBI	0.452664	0.50612	N	0.19501341552465	0.50960	3.281164	0.305613820986169	0.55867	3.749737	0.999998472970656	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.11	5.11	0.69188	5.056000	0.64112	11.182000	0.88348	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9219:0.0:0.0781:0.0	9.557	0.38511	662	0.61715	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1187.43	35	chr10	102149968	.	A	G	1187.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.067;DP=402;ExcessHet=0;FS=0.779;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=2.74;SOR=0.588	GT:AD:DP:GQ:PL	0/1:39,55:94:99:1199,0,835	9	0	1	0
chr10	113850002	113850002	C	T	exonic	DCLRE1A	.	nonsynonymous SNV	DCLRE1A:NM_014881:exon2:c.G1103A:p.R368Q,DCLRE1A:NM_001271816:exon3:c.G1103A:p.R368Q	.	423	1064	33	2	0	37	0.0170901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00900799210836	0.0018	0.000998403	0.0028	0.0002	0.0004	0	0.0003	0.0028	0.0099	0.0078	0.0026326	407	154602	rs34407062	0.0030	0.0030	0.0027	0.0032	0.0091	0.0029	0.0029	0.0085	0.0083	0.0007	0.0007	0.0018	0	0.0007	0.0085	0.0029	0.0030	0.0091	0.0018	0.0018	0.0018	0.0018	0.0089	0.0016	0.0016	0.0068	0.0061	0.0004	0	0.0006	0.0012	0	0.0002	0.0170	0.0028	0.0028	0.0089	1.0	0.00964	T	0.965	0.02516	T	0.0	0.02946	B	0.0	0.01387	B	0.762884	0.09609	N	0.898328	1	0.08975	N	-1.445	0.00556	N	-0.07	0.63738	T	0.97	0.01467	N	0.023	0.00407	-0.9942	0.31512	T	0.056	0.23639	T	10	0.0034727156	0.00062	T	0.009008	0.23726	T	0.063	0.18251	.	.	0.46435556306	0.46064	0.05865013345647209	0.05806	0.130787246225	0.14758	0.202702075243	0.00539	T	0.035961	0.23920	T	-0.610291	0.00126	T	-0.643161	0.09441	T	0.00196664463206678	0.00020	T	0.534247	0.17838	T	0.020521026	0.00614	0.036115486	0.02995	0.020521026	0.00614	0.036115486	0.02994	-2.421	0.05263	T	.	.	0.062	0.01408	B	.;.	.;.	0.426492	0.07970	4.682	0.66527565912203024	0.08085	0.00128	0.00795	N	AEFBI	0.021531	0.00969	N	-1.41558403862917	0.02501	0.1105539	-1.28444773454241	0.04640	0.2193375	0.999778364301915	0.42865	0.566229	0.32551	0	0.586065	0.33999	0	0.658983	0.55881	0	0.674467	0.66132	0	.	.	6.02	2.4	0.28568	0.265000	0.18282	0.638000	0.20293	-0.114000	0.14653	0.000000	0.06391	0.419000	0.24798	0.112000	0.18829	0.1297:0.2833:0.0:0.587	4.842	0.12857	932	0.16191	.;.	.	.	.	.	.	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	0.008056	0.010101	0.006793	0.008772	0.000000	0.000000	0.009146	0.015152	0.05	1482.43	33	chr10	113850002	.	C	T	1482.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.58;DP=565;ExcessHet=0;FS=0.633;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.74;ReadPosRankSum=-0.475;SOR=0.783	GT:AD:DP:GQ:PL	0/1:75,63:138:99:1494,0,1683	9	0	1	0
chr10	114218525	114218525	G	A	exonic	TDRD1	.	nonsynonymous SNV	TDRD1:NM_001385366:exon17:c.G2264A:p.R755Q,TDRD1:NM_001385371:exon17:c.G2291A:p.R764Q,TDRD1:NM_001365891:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385363:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385364:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385365:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385367:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385368:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385369:exon18:c.G2435A:p.R812Q,TDRD1:NM_001385372:exon18:c.G2435A:p.R812Q,TDRD1:NM_198795:exon18:c.G2435A:p.R812Q	.	.	.	.	.	.	.	.	.	.	.	4080702	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.043	0.00571566763944	7.7e-05	.	9.896e-05	0	8.663e-05	0	0	0.0001	0	6.075e-05	7.76e-05	12	154602	rs370338316	5.069e-05	5.062e-05	5.726e-05	4.406e-05	9.307e-05	4.131e-05	3.784e-05	4.592e-05	3.841e-05	0	4.498e-05	0	0	0	0	5.402e-05	6.632e-05	9.307e-05	5.913e-05	5.91e-05	5.138e-05	6.724e-05	0.0001	3.077e-05	2.21e-05	4.765e-05	3.339e-05	4.824e-05	0	0	0	0	0	0	0.0001	0	0	0.487	0.08067	T	0.626	0.07368	T	0.024	0.19075	B	0.003	0.08700	B	0.036893	0.24467	N	0.441048	1	0.08975	N	0.745	0.18958	N	2.68	0.12371	T	-2.24	0.50175	N	0.167	0.18649	-0.9633	0.38547	T	0.018	0.07470	T	10	0.06259945	0.08029	T	0.005716	0.14802	T	0.043	0.11576	.	.	0.123314135267	0.11883	0.5877222469381689	0.58702	0.221771950682	0.24716	0.229322627187	0.01918	T	.	.	.	-0.499366	0.00576	T	-0.718413	0.04873	T	0.0364241159083198	0.03054	T	0.751225	0.37284	T	.	.	.	.	.	.	.	.	-3.327	0.14087	T	.	.	0.062	0.01252	B	.;.;.	.;.;.	1.308484	0.17114	12.97	0.90148493990270506	0.19427	0.04824	0.10550	N	AEFI	0.084639	0.17154	N	-1.00400769864412	0.08520	0.3997998	-1.00620906739242	0.09648	0.4812304	1.35102062121794E-5	0.02871	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.79	0.774	0.17665	1.716000	0.37601	0.450000	0.18513	-0.116000	0.14526	0.021000	0.19753	0.001000	0.17328	0.332000	0.25247	0.4015:0.0:0.5985:0.0	7.943	0.29129	899	0.25060	Tudor domain|Tudor domain|Tudor domain;.;Tudor domain|Tudor domain|Tudor 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	1	0	.	.	.	.	.	.	.	.	0.05	1532.43	34	chr10	114218525	.	G	A	1532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.137;DP=453;ExcessHet=0;FS=2.13;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=1.96;SOR=0.881	GT:AD:DP:GQ:PL	0/1:74,65:139:99:1544,0,1762	9	0	1	0
chr10	119036209	119036209	G	A	exonic	EIF3A	.	nonsynonymous SNV	EIF3A:NM_003750:exon22:c.C3979T:p.P1327S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.0027293586861	0.0003	0.000599042	0.0001	0.0012	8.639e-05	0	0	1.5e-05	0	0	0.00011	17	154602	rs141499066	3.147e-05	3.147e-05	3.947e-05	2.338e-05	0.0008	2.412e-05	2.157e-05	0.0006	0.0005	0.0008	2.236e-05	0	0	0	0.0002	7.194e-06	0.0001	1.159e-05	0.0003	0.0003	0.0003	0.0002	0.0009	0.0002	0.0002	0.0007	0.0006	0.0009	0	6.558e-05	0	0	0	0	1.471e-05	0	0	0.027	0.46513	D	0.546	0.09555	T	0.267	0.31683	B	0.04	0.23831	B	0.001443	0.38980	N	0.000000	0.963135	0.38330	D	1.445	0.36358	L	1.79	0.25509	T	-1.32	0.32991	N	0.222	0.40164	-1.0603	0.11681	T	0.051	0.21533	T	10	0.02525258	0.00725	T	0.002729	0.05637	T	0.079	0.23065	.	.	0.271610670623	0.26767	0.06834432202209023	0.06772	0.495656575686	0.48101	0.543613314629	0.44956	T	0.02637	0.19527	T	-0.382597	0.03000	T	-0.372792	0.36564	T	0.0371014008793024	0.03174	T	0.80202	0.44827	T	0.053700767	0.10201	0.084391154	0.19409	0.053700767	0.10200	0.084391154	0.19409	-4.181	0.26476	T	.	.	0.097	0.15877	B	.;.	.;.	3.082825	0.41477	21.4	0.98826003708404542	0.46869	0.97229	0.73454	D	AEFBI	0.530034	0.55090	D	0.0157895399479564	0.42573	2.567711	0.211130224564031	0.50465	3.238202	0.999999979647481	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.03	6.03	0.97798	2.774000	0.47379	9.881000	0.82199	0.671000	0.69459	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.1678:0.8322:0.0	16.257	0.82347	448	0.79501	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	370.43	34	chr10	119036209	.	G	A	370.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.421;DP=341;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.383;SOR=0.61	GT:AD:DP:GQ:PL	0/1:13,17:30:99:382,0,284	9	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.45	8292.02	133	chr10	124989543	.	T	C	8292.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.997;DP=1182;ExcessHet=15.1594;FS=11.175;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=50.01;MQRankSum=-8.13;QD=7.76;ReadPosRankSum=0.874;SOR=0.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,26:111:99:0|1:124989533_G_A:836,0,3332:124989533	1	0	9	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4284.98	127	chr10	124989564	.	TG	T	4284.98	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-3.961;DP=1243;ExcessHet=15.1594;FS=12.6;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=52;MQRankSum=-7.935;QD=3.92;ReadPosRankSum=-1.956;SOR=0.21	GT:AD:DP:GQ:PL	0/1:94,25:119:99:565,0,3130	1	0	9	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G,CTBP2:NM_022802:exon9:c.C2897G:p.A966G,CTBP2:NM_001321013:exon10:c.C1277G:p.A426G,CTBP2:NM_001083914:exon11:c.C1277G:p.A426G,CTBP2:NM_001290214:exon11:c.C1277G:p.A426G,CTBP2:NM_001290215:exon11:c.C1277G:p.A426G,CTBP2:NM_001321012:exon11:c.C1277G:p.A426G,CTBP2:NM_001321014:exon11:c.C1277G:p.A426G,CTBP2:NM_001329:exon11:c.C1277G:p.A426G	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	891.5	129	chr10	124989579	.	G	C	891.5	.	AC=4;AF=0.333;AN=12;BaseQRankSum=0.11;DP=1298;ExcessHet=1.5895;FS=10.607;InbreedingCoeff=-0.4692;MLEAC=5;MLEAF=0.417;MQ=54.19;MQRankSum=-7.856;QD=1.62;ReadPosRankSum=-3.028;SOR=0.213	GT:AD:DP:GQ:PL	0/1:105,20:125:99:181,0,2800	2	0	4	4
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-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	.	.	.	.	.	.	.	.	0.5	4849.02	142	chr10	124994489	.	T	G	4849.02	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.87;DP=1577;ExcessHet=22.563;FS=32.626;InbreedingCoeff=-0.998;MLEAC=10;MLEAF=0.5;MQ=58.54;MQRankSum=-5.718;QD=3.23;ReadPosRankSum=-4.421;SOR=3.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,45:169:99:0|1:124994489_T_G:1516,0,5064:124994489	0	0	10	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding 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	.	.	.	.	.	.	.	.	0.5	6034.04	150	chr10	124994501	.	G	A	6034.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.21;DP=1649;ExcessHet=22.563;FS=38.022;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=58.03;MQRankSum=-5.929;QD=3.89;ReadPosRankSum=-3.325;SOR=3.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:131,49:180:99:0|1:124994489_T_G:1663,0,5333:124994489	0	0	10	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	6176.04	150	chr10	124994505	.	A	T	6176.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=2.17;DP=1668;ExcessHet=22.563;FS=40.71;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.93;MQRankSum=-5.733;QD=4.01;ReadPosRankSum=-2.482;SOR=3.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,49:177:99:0|1:124994489_T_G:1672,0,5207:124994489	0	0	10	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-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	.	.	.	.	.	.	.	.	0.5	8820.04	174	chr10	124994530	.	G	A	8820.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-0.599;DP=1823;ExcessHet=22.563;FS=63.896;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.45;MQRankSum=-4.587;QD=5.36;ReadPosRankSum=1.32;SOR=4.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,61:203:99:0|1:124994523_G_A:2077,0,5605:124994523	0	0	10	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-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	.	.	.	.	.	.	.	.	0.5	4694.8	180	chr10	124994542	.	C	T	4694.8	.	AC=9;AF=0.5;AN=18;BaseQRankSum=-1.796;DP=1829;ExcessHet=15.1594;FS=59.93;InbreedingCoeff=-0.9048;MLEAC=9;MLEAF=0.5;MQ=57.08;MQRankSum=-4.748;QD=3.27;ReadPosRankSum=2.87;SOR=4.447	GT:AD:DP:GQ:PL	0/1:147,62:209:99:1143,0,3886	0	0	9	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-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	.	.	.	.	.	.	.	.	0.45	4755.02	191	chr10	124994563	.	A	T	4755.02	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-2.391;DP=1867;ExcessHet=15.1594;FS=69.308;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.45;MQ=57.08;MQRankSum=-4.998;QD=3.27;ReadPosRankSum=3.5;SOR=4.822	GT:AD:DP:GQ:PL	0/1:142,68:210:99:1180,0,3674	1	0	9	0
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-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	.	.	.	.	.	.	.	.	0.5	12161.0	190	chr10	124994577	.	C	A	12161.0	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-3.833;DP=1897;ExcessHet=22.563;FS=80.112;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=57.03;MQRankSum=-5.452;QD=7.18;ReadPosRankSum=2.73;SOR=4.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:146,69:215:99:0|1:124994577_C_A:2458,0,5822:124994577	0	0	10	0
chr10	125003382	125003382	C	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.373delG:p.V125Wfs*17,CTBP2:NM_022802:exon2:c.1789delG:p.V597Wfs*17,CTBP2:NM_001321013:exon3:c.169delG:p.V57Wfs*17,CTBP2:NM_001083914:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290214:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001290215:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321012:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001321014:exon4:c.169delG:p.V57Wfs*17,CTBP2:NM_001329:exon4:c.169delG:p.V57Wfs*17	.	420	832	265	5	0	275	0.141826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	255.6	126	chr10	125003381	.	AC	A	255.6	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.92;DP=975;ExcessHet=2.8389;FS=3.831;InbreedingCoeff=-0.3364;MLEAC=5;MLEAF=0.25;MQ=59.35;MQRankSum=-9.355;QD=0.51;ReadPosRankSum=-1.661;SOR=1.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,9:121:20:0|1:125003381_AC_A:20,0,4645:125003381	5	0	5	0
chr10	125003448	125003448	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C307G:p.L103V,CTBP2:NM_022802:exon2:c.C1723G:p.L575V,CTBP2:NM_001321013:exon3:c.C103G:p.L35V,CTBP2:NM_001083914:exon4:c.C103G:p.L35V,CTBP2:NM_001290214:exon4:c.C103G:p.L35V,CTBP2:NM_001290215:exon4:c.C103G:p.L35V,CTBP2:NM_001321012:exon4:c.C103G:p.L35V,CTBP2:NM_001321014:exon4:c.C103G:p.L35V,CTBP2:NM_001329:exon4:c.C103G:p.L35V	.	415	822	281	4	0	289	0.149509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.276	0.0482046556134	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs3198920	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.46129	T	0.06	0.70582	T	0.977	0.70673	D	0.695	0.72444	P	0.000204	0.47681	D	0.143597	0.999973	0.53665	D	1.24	0.30952	L	0.56	0.54540	T	-2.77	0.59545	D	0.749	0.74918	-0.7112	0.59893	T	0.257	0.62699	T	10	0.56829476	0.65175	D	0.048205	0.63269	D	0.276	0.59253	0.336	0.32491	0.772200913293	0.77011	0.9284518054969177	0.92823	1.54105169968	0.87712	0.653429269791	0.60473	T	0.450833	0.79179	T	0.0930372	0.63530	D	-0.104135	0.63075	T	0.921929836273193	0.58181	D	0.835916	0.50694	T	0.38344187	0.59564	0.2654763	0.52381	0.38344187	0.59565	0.2654763	0.52380	-11.24	0.86033	D	.	.	0.857	0.85926	P	.;.;.;.;.;.	.;.;.;.;.;.	4.413740	0.68303	25.2	0.95986553857963608	0.28374	0.93332	0.57934	D	AEFDBHCI	0.721280	0.67158	D	0.197166407657861	0.51063	3.290622	0.0912559216929815	0.44107	2.69894	0.999999466762818	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	1.83	0.24279	4.055000	0.57153	3.753000	0.39691	-0.154000	0.11915	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.3038:0.0:0.6962:0.0	9.074	0.35672	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	344.3	105	chr10	125003448	.	G	C	344.3	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.532;DP=844;ExcessHet=1.5895;FS=5.299;InbreedingCoeff=-0.3457;MLEAC=5;MLEAF=0.313;MQ=59.2;MQRankSum=-8.746;QD=0.96;ReadPosRankSum=0.877;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,9:108:80:0|1:125003425_G_C:80,0,4130:125003425	4	0	4	2
chr10	125003450	125003450	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C305T:p.P102L,CTBP2:NM_022802:exon2:c.C1721T:p.P574L,CTBP2:NM_001321013:exon3:c.C101T:p.P34L,CTBP2:NM_001083914:exon4:c.C101T:p.P34L,CTBP2:NM_001290214:exon4:c.C101T:p.P34L,CTBP2:NM_001290215:exon4:c.C101T:p.P34L,CTBP2:NM_001321012:exon4:c.C101T:p.P34L,CTBP2:NM_001321014:exon4:c.C101T:p.P34L,CTBP2:NM_001329:exon4:c.C101T:p.P34L	.	415	825	279	3	0	285	0.147287	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.184870613505	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796256730	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.68238	D	0.003	0.83351	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	N	0.048585	1	0.81001	D	2.215	0.62545	M	0.4	0.57261	T	-9.29	0.98415	D	0.771	0.82559	-0.3944	0.72203	T	0.310	0.68003	T	10	0.77988756	0.77765	D	0.184871	0.85777	D	0.538	0.80664	0.515	0.61459	0.793810481979	0.79189	0.9928132138473921	0.99277	2.02998117833	0.94073	0.801052808762	0.82123	T	0.591617	0.86780	D	0.254993	0.79067	D	0.128504	0.78794	D	0.999326944351196	0.96966	D	0.948805	0.80311	D	0.80739933	0.84383	0.63186806	0.78521	0.80739933	0.84384	0.63186806	0.78522	-10.77	0.87601	D	.	.	0.981	0.91262	P	.;.;.;.;.;.	.;.;.;.;.;.	5.876492	0.93912	33	0.99537415390314665	0.70274	0.97949	0.78358	D	AEFDBHCI	0.949159	0.96151	D	0.396560092074224	0.61236	4.321908	0.310569273267847	0.56158	3.779008	0.999999999991253	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	3.81	0.43020	10.003000	0.99689	11.566000	0.93257	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.1423:0.8577:0.0	15.129	0.72177	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1875	137.38	107	chr10	125003450	.	G	A	137.38	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.425;DP=840;ExcessHet=0.7463;FS=2.377;InbreedingCoeff=-0.243;MLEAC=3;MLEAF=0.188;MQ=59.31;MQRankSum=-8.802;QD=0.49;ReadPosRankSum=0.502;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,8:109:32:0|1:125003425_G_C:32,0,4217:125003425	5	0	3	2
chr10	125003454	125003454	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon2:c.301delC:p.R101Afs*19,CTBP2:NM_022802:exon2:c.1717delC:p.R573Afs*19,CTBP2:NM_001321013:exon3:c.97delC:p.R33Afs*19,CTBP2:NM_001083914:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290214:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001290215:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321012:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001321014:exon4:c.97delC:p.R33Afs*19,CTBP2:NM_001329:exon4:c.97delC:p.R33Afs*19	.	418	851	251	2	0	255	0.130301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.007e-07	3.42e-06	0	1.411e-06	.	0	0	.	.	0	0	0	0	1.924e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	145.77	106	chr10	125003453	.	CG	C	145.77	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.326;DP=826;ExcessHet=0.7463;FS=2.242;InbreedingCoeff=-0.1688;MLEAC=3;MLEAF=0.15;MQ=59.3;MQRankSum=-8.859;QD=0.54;ReadPosRankSum=0.366;SOR=0.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:92,8:102:44:.:.:44,0,4000:.	7	0	3	0
chr10	125003460	125003460	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C295A:p.H99N,CTBP2:NM_022802:exon2:c.C1711A:p.H571N,CTBP2:NM_001321013:exon3:c.C91A:p.H31N,CTBP2:NM_001083914:exon4:c.C91A:p.H31N,CTBP2:NM_001290214:exon4:c.C91A:p.H31N,CTBP2:NM_001290215:exon4:c.C91A:p.H31N,CTBP2:NM_001321012:exon4:c.C91A:p.H31N,CTBP2:NM_001321014:exon4:c.C91A:p.H31N,CTBP2:NM_001329:exon4:c.C91A:p.H31N	.	415	860	246	1	0	248	0.126016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.554	0.0669258259103	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs796388243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.56456	D	0.108	0.50514	T	0.168	0.51467	B	0.138	0.54536	B	0.000186	0.48115	D	0.218873	0.999987	0.54805	D	2.135	0.59519	M	-1.65	0.83737	D	-4.47	0.78388	D	0.766	0.79214	0.171	0.85422	D	0.548	0.83407	D	10	0.6328803	0.68617	D	0.066926	0.70016	D	0.554	0.81601	0.416	0.45544	0.767328355039	0.76520	0.9728822579583015	0.97277	2.0305426451	0.94091	0.756400108337	0.75394	T	0.434559	0.78160	T	0.131495	0.67506	D	-0.0488934	0.67098	D	0.986545503139496	0.77236	D	0.927207	0.73169	D	0.4496781	0.64020	0.3526759	0.60841	0.4496781	0.64021	0.3526759	0.60840	-9.806	0.74846	D	.	.	0.451	0.62246	A	.;.;.;.;.;.	.;.;.;.;.;.	5.089181	0.84970	28.5	0.977327532623396	0.35628	0.98388	0.82268	D	AEFDBHCI	0.954424	0.97151	D	0.316318154352101	0.56987	3.864403	0.376191892726831	0.60101	4.194	1.0	0.98316	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	7.744000	0.83944	8.399000	0.77102	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1875	179.43	109	chr10	125003460	.	G	T	179.43	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-1.177;DP=817;ExcessHet=0.7463;FS=2.452;InbreedingCoeff=-0.2542;MLEAC=3;MLEAF=0.188;MQ=59.32;MQRankSum=-8.742;QD=0.68;ReadPosRankSum=-0.114;SOR=0.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,8:103:50:0|1:125003425_G_C:50,0,3965:125003425	5	0	3	2
chr10	125003466	125003466	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C289A:p.P97T,CTBP2:NM_022802:exon2:c.C1705A:p.P569T,CTBP2:NM_001321013:exon3:c.C85A:p.P29T,CTBP2:NM_001083914:exon4:c.C85A:p.P29T,CTBP2:NM_001290214:exon4:c.C85A:p.P29T,CTBP2:NM_001290215:exon4:c.C85A:p.P29T,CTBP2:NM_001321012:exon4:c.C85A:p.P29T,CTBP2:NM_001321014:exon4:c.C85A:p.P29T,CTBP2:NM_001329:exon4:c.C85A:p.P29T	.	410	877	234	1	0	236	0.118593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.847	0.176108028638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.025	0.64786	D	0.948	0.61912	P	0.514	0.56676	P	0.000117	0.50451	D	0.214717	1	0.81001	D	2.215	0.62545	M	-2.13	0.86349	D	-6.05	0.89796	D	0.689	0.82559	0.518	0.90792	D	0.688	0.89243	D	10	0.8365156	0.82808	D	0.176108	0.85198	D	0.847	0.95249	0.689	0.82653	0.928801495259	0.92807	0.9831479306831125	0.98306	2.09264733632	0.94735	0.676425933838	0.63756	T	0.542494	0.84360	D	0.336779	0.85619	D	0.245983	0.85429	D	0.99172455072403	0.82061	D	0.955104	0.83186	D	0.7142099	0.78840	0.5802387	0.75671	0.7142099	0.78841	0.5802387	0.75672	-5.592	0.70616	T	.	.	0.756	0.75321	P	.;.;.;.;.;.	.;.;.;.;.;.	5.016100	0.83334	28.0	0.99771334295315606	0.85918	0.97924	0.78163	D	AEFDBHCI	0.917308	0.88472	D	0.627757786435649	0.74937	6.218313	0.643900769394684	0.78156	6.820169	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	9.883000	0.98528	11.568000	0.93268	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	200.64	99	chr10	125003466	.	G	T	200.64	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.217;DP=796;ExcessHet=0.7463;FS=2.468;InbreedingCoeff=-0.1633;MLEAC=2;MLEAF=0.1;MQ=59.31;MQRankSum=-8.566;QD=0.78;ReadPosRankSum=-0.838;SOR=0.731	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,8:98:65:0|1:125003425_G_C:65,0,3755:125003425	7	0	3	0
chr10	125003468	125003468	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.G287T:p.G96V,CTBP2:NM_022802:exon2:c.G1703T:p.G568V,CTBP2:NM_001321013:exon3:c.G83T:p.G28V,CTBP2:NM_001083914:exon4:c.G83T:p.G28V,CTBP2:NM_001290214:exon4:c.G83T:p.G28V,CTBP2:NM_001290215:exon4:c.G83T:p.G28V,CTBP2:NM_001321012:exon4:c.G83T:p.G28V,CTBP2:NM_001321014:exon4:c.G83T:p.G28V,CTBP2:NM_001329:exon4:c.G83T:p.G28V	.	413	879	229	1	0	231	0.116139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.808	0.205810925829	7.9e-05	.	9.126e-06	0	0	0	0	1.654e-05	0	0	6.5e-06	1	154602	rs368195398	7.039e-07	2.052e-06	0	1.418e-06	1.229e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.229e-05	1.315e-05	1.313e-05	1.285e-05	1.346e-05	4.831e-05	2.19e-06	8.2e-07	8.01e-06	3e-06	4.831e-05	0	0	0	0	0	0	0	0	0	0.002	0.91255	D	0.003	0.83351	D	0.758	0.56768	P	0.345	0.52270	B	0.000015	0.62929	D	0.153474	1	0.81001	D	2.215	0.62545	M	-2.07	0.87116	D	-6.7	0.93786	D	0.885	0.91162	0.404	0.89161	D	0.665	0.88381	D	10	0.9020648	0.89569	D	0.205811	0.87005	D	0.808	0.93777	.	.	0.940972417782	0.94036	0.9830957384624965	0.98301	0.580823813372	0.53909	0.771838724613	0.77700	T	0.670241	0.90204	D	0.414705	0.90739	D	0.357919	0.90623	D	0.97039270401001	0.68933	D	0.830817	0.50504	T	0.82183003	0.85343	0.73988026	0.84624	0.82183003	0.85344	0.73988026	0.84625	-14.257	0.93861	D	.	.	0.903	0.82932	P	.;.;.;.;.;.	.;.;.;.;.;.	5.052849	0.84171	28.2	0.99572167466560413	0.72440	0.94853	0.62557	D	AEFDBHCI	0.865967	0.78524	D	0.502445831928042	0.67234	5.054572	0.519224250986091	0.69285	5.338541	0.999999999980549	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	4.72	0.59248	4.865000	0.62695	5.821000	0.50083	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.050	0.89270	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	211.86	95	chr10	125003468	.	C	A	211.86	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.097;DP=787;ExcessHet=0.7463;FS=2.468;InbreedingCoeff=-0.1704;MLEAC=3;MLEAF=0.15;MQ=59.31;MQRankSum=-8.566;QD=0.84;ReadPosRankSum=-0.845;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,8:95:74:0|1:125003425_G_C:74,0,3629:125003425	7	0	3	0
chr10	125003470	125003470	G	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon2:c.C285A:p.N95K,CTBP2:NM_022802:exon2:c.C1701A:p.N567K,CTBP2:NM_001321013:exon3:c.C81A:p.N27K,CTBP2:NM_001083914:exon4:c.C81A:p.N27K,CTBP2:NM_001290214:exon4:c.C81A:p.N27K,CTBP2:NM_001290215:exon4:c.C81A:p.N27K,CTBP2:NM_001321012:exon4:c.C81A:p.N27K,CTBP2:NM_001321014:exon4:c.C81A:p.N27K,CTBP2:NM_001329:exon4:c.C81A:p.N27K	.	414	877	230	1	0	232	0.116818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.443	0.196846434944	.	.	.	.	.	.	.	.	.	.	.	.	.	rs797010536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.53172	T	0.133	0.38160	T	0.024	0.52359	B	0.023	0.49136	B	0.000107	0.50451	N	0.228572	0.999907	0.50806	D	0.84	0.21119	L	-1.74	0.85173	D	-4.45	0.77717	D	0.707	0.80572	-0.1451	0.79039	T	0.509	0.81527	D	10	0.6498769	0.69541	D	0.196846	0.86503	D	0.443	0.74588	0.388	0.40951	0.817883718107	0.81616	0.9725668737270228	0.97245	0.555298206099	0.52229	0.665825009346	0.62241	T	0.506962	0.82492	D	0.0861848	0.62758	D	-0.113978	0.62294	T	0.98187917470932	0.74162	D	0.883312	0.60567	D	0.2881824	0.51823	0.250968	0.50698	0.2881824	0.51823	0.250968	0.50697	-15.247	0.96521	D	.	.	0.973	0.89808	P	.;.;.;.;.;.	.;.;.;.;.;.	4.647796	0.74053	26.1	0.9874692024541335	0.45587	0.88075	0.47847	D	AEFDBHCI	0.574998	0.57756	D	-0.046368544377228	0.39764	2.350313	0.00799731341758868	0.40086	2.38672	0.999998763134182	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	4.72	2.83	0.32150	1.613000	0.36512	7.263000	0.57966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1598:0.0:0.6829:0.1573	5.756	0.17440	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1875	231.14	94	chr10	125003470	.	G	T	231.14	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.22;DP=766;ExcessHet=0.7463;FS=1.074;InbreedingCoeff=-0.2698;MLEAC=3;MLEAF=0.188;MQ=59.28;MQRankSum=-8.275;QD=0.94;ReadPosRankSum=-0.743;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,8:93:80:0|1:125003425_G_C:80,0,3545:125003425	5	0	3	2
chr10	125039033	125039033	T	A	exonic	CTBP2	.	stopgain	CTBP2:NM_001321013:exon2:c.A22T:p.K8X,CTBP2:NM_001083914:exon3:c.A22T:p.K8X,CTBP2:NM_001290214:exon3:c.A22T:p.K8X,CTBP2:NM_001290215:exon3:c.A22T:p.K8X,CTBP2:NM_001321012:exon3:c.A22T:p.K8X,CTBP2:NM_001321014:exon3:c.A22T:p.K8X,CTBP2:NM_001329:exon3:c.A22T:p.K8X	.	432	1023	67	0	0	67	0.0317085	.	.	.	1330655	not_specified|Pulmonary_artery_atresia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0004935,MedGen:C0265908	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001537	4	26028	rs76555439	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.903	0.90363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47795	0.93627	D	0.448766	0.93547	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	9.829600	0.99355	43	0.99586803091769216	0.73336	0.87743	0.47386	D	AEFGBHCI	0.077324	0.15576	N	0.854919915911592	0.89387	9.950527	0.733718632913773	0.84935	8.434	0.999999999999905	0.74766	0.645754	0.44609	0	0.627178	0.54094	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.743000	0.68032	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039033	.	T	A	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.24;DP=898;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.76;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.451;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,13:175:58:0|1:125039033_T_A:58,0,6712:125039033	6	0	4	0
chr10	125039035	125039035	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001321013:exon2:c.A20G:p.H7R,CTBP2:NM_001083914:exon3:c.A20G:p.H7R,CTBP2:NM_001290214:exon3:c.A20G:p.H7R,CTBP2:NM_001290215:exon3:c.A20G:p.H7R,CTBP2:NM_001321012:exon3:c.A20G:p.H7R,CTBP2:NM_001321014:exon3:c.A20G:p.H7R,CTBP2:NM_001329:exon3:c.A20G:p.H7R	.	434	1022	66	0	0	66	0.0312796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.0169483827955	.	.	1.651e-05	9.626e-05	0	0	0	1.501e-05	0	0	0.0001921	5	26028	rs78849795	6.847e-07	2.257e-05	1.363e-06	0	.	0	0	.	.	0	0	0	0	1.872e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.15509	T	0.911	0.02952	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.976171	0.25390	N	1.155	0.29575	L	-1.53	0.81559	D	-0.28	0.11547	N	0.556	0.58117	-0.7162	0.59649	T	0.384	0.73988	T	9	0.2395181	0.41094	T	0.016948	0.38442	T	0.314	0.63588	0.302	0.27003	0.989459454501	0.98934	.	.	.	.	.	.	.	0.157543	0.50018	T	0.164577	0.70624	D	-0.00137324	0.70247	D	0.378074373079758	0.28108	T	0.886111	0.61235	D	0.15569115	0.35175	0.15271002	0.35916	0.15569115	0.35174	0.15271002	0.35915	-2.736	0.07610	T	.	.	0.160	0.48978	B	.;.;.;.	.;.;.;.	3.581586	0.50496	23.0	0.96844956273467708	0.31320	0.86671	0.46001	D	AEFGBHCI	0.757168	0.69621	D	-0.0152146198236119	0.41167	2.457583	0.165997750048251	0.47996	3.021633	0.999999999999905	0.74766	0.645754	0.44609	0	0.60822	0.50512	0	0.696144	0.63334	0	0.711	0.71501	0	.	.	5.28	5.28	0.74118	4.878000	0.62786	7.749000	0.68113	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	13.948	0.63611	877	0.30165	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	236.57	144	chr10	125039035	.	T	C	236.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-2.41;DP=890;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.74;MQRankSum=-11.94;QD=0.38;ReadPosRankSum=-0.442;SOR=0.77	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,13:175:58:0|1:125039033_T_A:58,0,6712:125039033	6	0	4	0
chr10	132808608	132808608	G	A	exonic	CFAP46	.	nonsynonymous SNV	CFAP46:NM_001200049:exon58:c.C7961T:p.A2654V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.0155790121842	0.0007	0.000798722	0.0009	0.0011	0.0014	0	0.0002	0.0012	0.0013	6.535e-05	0.0006468	100	154602	rs142644767	0.0005	0.0005	0.0005	0.0005	0.0017	0.0004	0.0004	0.0009	0.0007	0.0007	0.0008	0.0107	0	0	0.0017	0.0002	0.0012	8.123e-05	0.0006	0.0006	0.0007	0.0004	0.0008	0.0005	0.0004	0.0005	0.0004	0.0005	0	0.0008	0.0098	0	9.427e-05	0.0034	0.0003	0	0	0.0	0.91255	D	0.329	0.18617	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.78	0.11298	T	0.02	0.06739	N	0.026	0.00527	-1.0049	0.28487	T	0.017	0.07045	T	9	0.0058736503	0.00131	T	0.015579	0.36391	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.017245659252883374	0.01679	0.107462244977	0.12125	0.315152853727	0.12686	T	0.009319	0.08490	T	-0.664193	0.00059	T	-0.777284	0.02536	T	0.00196549267325727	0.00020	T	0.352865	0.07937	T	0.04411537	0.06997	0.059964586	0.11343	0.04411537	0.06997	0.059964586	0.11342	-4.466	0.30441	T	.	.	0.068	0.02927	B	.	.	-0.928931	0.00878	0.031	0.48893718970617395	0.04118	0.00829	0.03338	N	AEFDBCI	0.029143	0.02698	N	-1.84715180353242	0.00440	0.01891586	-1.95344401509453	0.00382	0.01689991	0.0075482397723308	0.11491	0.514905	0.20481	0	0.573888	0.26702	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	1.6	-3.2	0.04838	-1.944000	0.01629	-2.356000	0.03857	-0.703000	0.04025	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2069:0.2618:0.368:0.1633	1.213	0.01792	994	0.00715	.	.	.	.	.	.	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	0.004149	0.005102	0.006812	0.000000	0.050000	0.000000	0.000000	0.000000	0.05	951.43	45	chr10	132808608	.	G	A	951.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.651;DP=407;ExcessHet=0;FS=3.404;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=0.516;SOR=1.195	GT:AD:DP:GQ:PL	0/1:32,36:68:99:963,0,752	9	0	1	0
chr10	132877923	132877923	-	TCCTTCTCTTTACTCCTCTCATTC	exonic	CFAP46	.	nonframeshift insertion	CFAP46:NM_001200049:exon30:c.4169_4170insGAATGAGAGGAGTAAAGAGAAGGA:p.K1389_D1390insENERSKEK	.	435	1033	46	8	0	62	0.0291353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0229	0.0011	0.0102	0.0020	0	0.0170	0.0617	0.0319	0.0008837	23	26028	rs752660068	0.0053	0.0051	0.0041	0.0065	0.0285	0.0052	0.0051	0.0265	0.0261	0.0011	0.0060	0.0189	0.0003	0.0019	0.0285	0.0035	0.0080	0.0275	0.0066	0.0068	0.0069	0.0062	0.0248	0.0062	0.0061	0.0211	0.0198	0.0014	0.0157	0.0080	0.0237	0.0004	0.0011	0.0171	0.0084	0.0086	0.0248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1399.41	31	chr10	132877923	.	G	GTCCTTCTCTTTACTCCTCTCATTC	1399.41	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.537;DP=358;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=14.43;ReadPosRankSum=-2.813;SOR=0.639	GT:AD:DP:GQ:PL	0/1:17,7:24:99:206,0,654	7	0	3	0
chr10	133271584	133271584	C	T	exonic	ADAM8	.	nonsynonymous SNV	ADAM8:NM_001164490:exon11:c.G1111A:p.V371M,ADAM8:NM_001109:exon12:c.G1228A:p.V410M,ADAM8:NM_001164489:exon12:c.G1228A:p.V410M	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00738818	0.0033	0.0167	0	0	0	0.0030	0.0058	0.0003	0.0004398	68	154602	rs36054052	0.0011	0.0010	0.0011	0.0010	0.0088	0.0010	0.0010	0.0073	0.0070	0.0082	0.0033	0.0043	0	0	0.0088	0.0007	0.0027	8.757e-05	0.0034	0.0034	0.0035	0.0034	0.0084	0.0032	0.0031	0.0077	0.0074	0.0084	0	0.0040	0.0058	0	9.413e-05	0.0136	0.0010	0.0080	0.0002	0.003	0.68238	D	0.005	0.79402	D	1.0	0.90584	D	0.977	0.73820	D	.	.	.	.	0.750229	0.29645	N	2.565	0.75005	M	4.94	0.01459	T	-2.02	0.47175	N	0.249	0.32481	.	.	.	.	.	.	.	0.011975437	0.00259	T	.	.	.	.	.	.	.	0.353761421236	0.34979	0.6728477863048329	0.67222	0.385967760024	0.39890	0.598319768906	0.52667	T	0.127532	0.45461	T	-0.55403	0.00276	T	-0.562205	0.16169	T	.	.	.	0.734027	0.40183	T	0.07469815	0.16780	0.13890104	0.33159	0.07469815	0.16780	0.13890104	0.33158	-7.27	0.55982	T	.	.	0.167	0.36752	B	.;.;.	.;.;.	2.770928	0.36375	20.2	0.99739633483342915	0.83409	0.30639	0.24134	N	AEFBI	0.291760	0.40281	N	.	.	.	.	.	.	0.0138497831473009	0.12518	0.631515	0.41029	0	0.697927	0.68747	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.64	2.69	0.30923	0.327000	0.19408	1.381000	0.26035	-0.199000	0.08999	0.000000	0.06391	0.764000	0.26647	0.255000	0.23391	0.0:0.6334:0.1655:0.201	5.246	0.14813	994	0.00715	Disintegrin 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	0.011954	0.037234	0.009777	0.015152	0.100000	0.000000	0.000000	0.003846	0.05	929.43	33	chr10	133271584	.	C	T	929.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.129;DP=403;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.144;SOR=0.643	GT:AD:DP:GQ:PL	0/1:40,41:81:99:941,0,889	9	0	1	0
chr11	551741	551741	C	T	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon10:c.C887T:p.S296F	.	412	1059	49	2	0	53	0.0244127	.	.	.	1566203	LRRC56-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.104	.	0.0025	0.00878594	0.0071	0.0007	0.0025	0.0004	0.0005	0.0040	0.0162	0.0334	0.0065846	1018	154602	rs139348192	0.0056	0.0057	0.0049	0.0065	0.0340	0.0055	0.0055	0.0330	0.0326	0.0007	0.0020	0.0049	0.0002	0.0006	0.0142	0.0041	0.0064	0.0340	0.0039	0.0039	0.0038	0.0039	0.0342	0.0036	0.0035	0.0299	0.0283	0.0008	0	0.0022	0.0052	0	0.0002	0.0068	0.0048	0.0043	0.0342	0.004	0.65419	D	0.031	0.53788	D	0.989	0.62824	D	0.809	0.58564	P	0.020131	0.27106	N	0.349867	0.999995	0.08975	N	2.665	0.77964	M	2.62	0.12988	T	-2.4	0.52776	N	0.461	0.49783	-1.1131	0.02817	T	0.046	0.19680	T	10	0.0036670566	0.00067	T	.	.	.	0.104	0.29647	.	.	0.376921832658	0.37306	0.40103892264460156	0.40018	.	.	0.481672912836	0.36288	T	0.012776	0.11168	T	-0.475094	0.00791	T	-0.430841	0.29840	T	0.0282370238378752	0.01722	T	0.677032	0.28590	T	0.10101317	0.23857	0.13709292	0.32779	0.10101317	0.23857	0.13709292	0.32778	-5.382	0.40746	T	0.7726946834992914	0.85352	0.153	0.33913	B	.	.	3.203815	0.43583	21.8	0.99637721640869203	0.76449	0.37578	0.25793	N	AEFDGBHCI	0.138923	0.26037	N	0.110799777074831	0.46966	2.929038	0.0309368537939218	0.41158	2.468169	0.999999974760928	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.14	4.14	0.47821	2.008000	0.40513	5.577000	0.48958	0.599000	0.40250	0.007000	0.17678	0.960000	0.29291	0.005000	0.06747	0.0:1.0:0.0:0.0	11.786	0.51314	906	0.23090	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.014099	0.000000	0.008174	0.005917	0.050000	0.000000	0.033537	0.022727	0.15	5988.45	159	chr11	551741	.	C	T	5988.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.556;DP=603;ExcessHet=0.7463;FS=0.384;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=0.096;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:64,57:121:99:.:.:1286,0,1430:.	7	0	3	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	5261.36	292	chr11	1018290	.	G	A	5261.36	.	AC=7;AF=0.35;AN=20;BaseQRankSum=4.14;DP=2815;ExcessHet=15.1594;FS=18.65;InbreedingCoeff=-0.8182;MLEAC=7;MLEAF=0.35;MQ=55.31;MQRankSum=-9.462;QD=2.02;ReadPosRankSum=0.915;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:334,38:387:99:.:.:590,0,13910:.	3	0	7	0
chr11	1075685	1075685	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	416	1052	54	0	0	54	0.0250232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.00798722	0.0064	0	0.0014	0.0002	0.0008	0.0039	0.0081	0.0364	0.005692	880	154602	rs72652890	0.0054	0.0055	0.0047	0.0062	0.0292	0.0053	0.0053	0.0283	0.0279	0.0005	0.0016	0.0042	0.0009	0.0006	0.0141	0.0043	0.0055	0.0292	0.0032	0.0032	0.0030	0.0033	0.0257	0.0029	0.0029	0.0220	0.0206	0.0006	0.0154	0.0020	0.0060	0.0008	0.0002	0.0102	0.0038	0.0019	0.0257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.016145	0.010101	0.008174	0.017544	0.100000	0.000000	0.012195	0.041985	0.1	2919.14	118	chr11	1075685	.	C	T	2919.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.873;DP=512;ExcessHet=0.2348;FS=5.858;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.9;ReadPosRankSum=1.27;SOR=0.424	GT:AD:DP:GQ:PL	0/1:41,51:92:99:1107,0,936	8	0	2	0
chr11	1085182	1085182	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0470070870377	0.0004	0.000599042	0.0008	0	0.0003	0	0	0.0009	0.0012	0.0017	0.0006274	97	154602	rs375576703	0.0009	0.0009	0.0009	0.0010	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	3.828e-05	7.557e-05	0.0005	0.0007	0.0010	0.0011	0.0020	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	6.532e-05	0	0	0.0004	0	0.0009	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.001511	0.000000	0.001359	0.005882	0.000000	0.000000	0.000000	0.003817	0.1	3130.14	36	chr11	1085182	.	C	T	3130.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.265;DP=600;ExcessHet=0.2348;FS=2.552;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=1.13;SOR=0.627	GT:AD:DP:GQ:PL	0/1:83,71:154:99:1545,0,1844	8	0	2	0
chr11	1096645	1096645	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	692	825	4	1	0	6	0.00362319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1198884028	0.0009	0.0007	0.0005	0.0012	0.0107	0.0008	0.0008	0.0100	0.0098	7.623e-05	0.0001	0	3.448e-05	0	0.0027	0.0001	0.0007	0.0107	7.443e-05	0.0004	9.884e-05	4.983e-05	0.0025	1.973e-05	1.047e-05	0.0004	0.0002	0	0	0	0	0	0	0	5.081e-05	0	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	2151.05	78	chr11	1096645	.	C	A	2151.05	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.247;DP=1077;ExcessHet=0;FS=2.819;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=54.07;MQRankSum=0.76;QD=12.88;ReadPosRankSum=-0.958;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,93:167:99:0|1:1096645_C_A:2162,0,1659:1096645	8	0	1	1
chr11	1097542	1097542	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	668	830	12	4	8	28	0.0119048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1388450032	0.0030	0.0029	0.0025	0.0035	0.0140	0.0029	0.0029	0.0133	0.0130	0.0005	0.0014	0.0023	0.0009	0.0010	0.0092	0.0024	0.0029	0.0140	0.0010	0.0013	0.0009	0.0011	0.0066	0.0008	0.0007	0.0039	0.0031	0.0002	0	0.0006	0.0030	0.0003	0	0.0088	0.0014	0	0.0066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.0625	2222.73	30	chr11	1097542	.	C	T	2222.73	.	AC=1;AF=0.063;AN=16;BaseQRankSum=0.729;DP=1674;ExcessHet=0;FS=0.543;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.063;MQ=56.12;MQRankSum=-1.79;QD=12.08;ReadPosRankSum=-1.27;SOR=0.775	GT:AD:DP:GQ:PL	0/1:84,100:184:99:2233,0,1749	7	0	1	2
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	37325.4	122	chr11	1099370	.	G	*	37325.4	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.89;DP=3372;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=5;MLEAF=0.25;MQ=53.57;MQRankSum=-0.709;QD=17.77;ReadPosRankSum=0.377;SOR=0.192	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,240:352:99:.:.:9025,3443,4154:.	5	0	5	0
chr11	1247258	1247258	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10378T:p.P3460S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00139655263601	.	.	0.0003	0.0011	8.714e-05	0.0009	0	6.106e-05	0	0.0008	7.68e-05	2	26028	rs200106077	0.0002	0.0004	0.0002	0.0003	0.0055	0.0002	0.0002	0.0049	0.0047	0.0003	8.95e-05	3.83e-05	0.0055	0	0	4.588e-05	0.0003	0.0007	0.0006	0.0009	0.0006	0.0006	0.0096	0.0005	0.0005	0.0074	0.0067	0.0007	0	0.0004	0	0.0096	0	0	8.837e-05	0.0005	0.0004	0.581	0.05973	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.99	0.21666	T	-1.97	0.45587	N	0.023	0.00407	-1.0446	0.15942	T	0.047	0.20116	T	9	0.010345995	0.00231	T	0.001397	0.02062	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.2417800626433341	0.24092	.	.	0.216585576534	0.01122	T	0.026858	0.19787	T	-0.591949	0.00163	T	-0.709799	0.05305	T	0.0188887172425098	0.00599	T	0.29917	0.05580	T	0.022990288	0.01002	0.04762698	0.06902	0.022990288	0.01002	0.04762698	0.06901	1.988	0.00052	T	.	.	0.061	0.01042	B	.	.	-0.631349	0.01488	0.093	0.57432856610170979	0.05768	0.00380	0.01923	N	AEFI	0.036370	0.04834	N	-1.00649754383629	0.08468	0.3971689	-1.1884646365629	0.06101	0.292679	8.95655638064933E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.39	0.095	0.13794	-2.570000	0.00989	-5.462000	0.01709	-1.716000	0.00736	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.188:0.6856:0.0:0.1263	5.778	0.17557	958	0.09170	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1572.43	161	chr11	1247258	.	C	T	1572.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.957;DP=1330;ExcessHet=0;FS=2.653;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=52.59;MQRankSum=-3.338;QD=8.15;ReadPosRankSum=-0.032;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,65:193:99:0|1:1247258_C_T:1584,0,4877:1247258	9	0	1	0
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4786.48	40	chr11	1630364	.	AGTCC	*	4786.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=2.566;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.54;QD=4.74;SOR=0.928	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,72:188:99:0|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:2409,0,4542:1630355	4	0	6	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	4769.48	40	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*	4769.48	.	AC=6;AF=0.3;AN=20;DP=1478;ExcessHet=0.3701;FS=1.818;InbreedingCoeff=0.1667;MLEAC=6;MLEAF=0.3;MQ=57.7;QD=4.76;SOR=0.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:116,72:188:99:0|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:2409,0,4542:1630355	4	0	6	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	17335.9	40	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	*	17335.9	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.85;DP=1824;ExcessHet=0.6204;FS=1.237;InbreedingCoeff=0.0476;MLEAC=8;MLEAF=0.4;MQ=59.01;MQRankSum=-4.506;QD=12.68;ReadPosRankSum=0.914;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,108:200:99:.:.:7149,3480,4241:.	4	2	4	0
chr11	2412827	2412827	G	A	exonic	TRPM5	.	nonsynonymous SNV	TRPM5:NM_014555:exon15:c.C2282T:p.P761L	.	417	1100	4	1	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.446	0.749002440507	.	.	0.0005	0	0.0004	0	0	0.0001	0.0039	0.0024	0.0002652	41	154602	rs556364904	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	2.315e-05	0	0	0	0.0009	4.332e-05	0.0006	0.0028	0.0001	0.0001	6.423e-05	0.0002	0.0025	8.656e-05	7.249e-05	0.0014	0.0011	4.81e-05	0	0.0002	0	0	0	0	1.47e-05	0.0009	0.0025	0.002	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.075	0.87202	M	-0.64	0.72125	T	-5.09	0.82961	D	0.624	0.63968	0.139	0.84859	D	0.544	0.83213	D	10	0.038475126	0.02268	T	0.749002	0.97997	D	0.446	0.74797	0.37	0.38013	0.684252380218	0.68155	0.42957882695739485	0.42874	0.485256337644	0.47413	0.573685884476	0.49198	T	0.874578	0.97319	D	-0.268523	0.11922	T	-0.160912	0.58270	T	0.240165501650694	0.22427	T	0.855714	0.54342	D	0.42356393	0.62328	0.45104125	0.68058	0.42356393	0.62328	0.45104125	0.68058	-7.171	0.55273	T	.	.	0.161	0.35622	B	.;.;.;.	.;.;.;.	4.292572	0.65474	24.8	0.99743570604385356	0.83703	0.93110	0.57353	D	AEFBCI	0.900852	0.84686	D	0.376473054716891	0.60149	4.200827	0.170469501196412	0.48236	3.042339	0.999874878828382	0.44625	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.28	3.36	0.37579	7.548000	0.81103	8.271000	0.76889	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.554000	0.30269	0.0912:0.0:0.9088:0.0	11.290	0.48477	988	0.01987	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport 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	0.001011	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.15	3483.45	33	chr11	2412827	.	G	A	3483.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.261;DP=527;ExcessHet=0.7463;FS=1.474;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.53;ReadPosRankSum=-0.936;SOR=0.604	GT:AD:DP:GQ:PL	0/1:36,56:92:99:1326,0,902	7	0	3	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.15	7130.45	125	chr11	4653052	.	A	G	7130.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.26;DP=1515;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.512;SOR=0.705	GT:AD:DP:GQ:PL	0/1:118,104:222:99:2653,0,2757	7	0	3	0
chr11	4923931	4923931	C	T	exonic	OR51G1	.	nonsynonymous SNV	OR51G1:NM_001005237:exon1:c.G409A:p.V137I	.	415	1090	17	0	0	17	0.00773782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	.	0.0032	0.00379393	0.0027	0.0081	0.0016	0.0002	0	0.0002	0.0066	0.0122	0.0023997	371	154602	rs145607331	0.0011	0.0011	0.0008	0.0015	0.0119	0.0011	0.0011	0.0113	0.0111	0.0072	0.0015	0.0004	5.039e-05	0	0.0036	0.0002	0.0021	0.0119	0.0033	0.0033	0.0033	0.0033	0.0119	0.0031	0.0030	0.0094	0.0085	0.0093	0	0.0026	0	0	0	0	0.0002	0.0024	0.0119	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.200551	0.16611	N	0.437363	0.970807	0.25685	N	-1.29	0.00724	N	.	.	.	.	.	.	.	.	-1.0038	0.28814	T	0.006	0.01907	T	10	0.011270016	0.00247	T	.	.	.	.	.	.	.	.	.	0.12785814721803207	0.12710	.	.	0.21312341094	0.00951	T	2.86E-4	0.00069	T	-0.787337	0.00010	T	-0.893344	0.00550	T	0.00573077374390745	0.00063	T	0.354964	0.08031	T	0.01774362	0.00299	0.03550361	0.02815	0.01774362	0.00299	0.03550361	0.02815	-1.032	0.01035	T	.	.	0.069	0.03128	B	.	.	-1.391376	0.00366	0.007	0.53104431938590912	0.04875	0.01281	0.04472	N	AEFGBI	0.037579	0.05190	N	-2.35276002061783	0.00035	0.001487029	-2.32492563772922	0.00058	0.002563659	0.352579824946261	0.19697	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.2	-8.41	0.00840	-2.223000	0.01297	.	.	-2.793000	0.00187	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1062:0.0998:0.794	12.105	0.53106	744	0.52588	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005539	0.000000	0.004076	0.005848	0.000000	0.000000	0.000000	0.026515	0.1	4089.14	33	chr11	4923931	.	C	T	4089.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.382;DP=897;ExcessHet=0.2348;FS=0.846;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=1.02;SOR=0.766	GT:AD:DP:GQ:PL	0/1:95,89:184:99:2211,0,2407	8	0	2	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1875	583.44	162	chr11	5351792	.	C	G	583.44	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-4.84;DP=1627;ExcessHet=0.7463;FS=376.01;InbreedingCoeff=-0.2619;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=0.472;SOR=11.492	GT:AD:DP:GQ:PL	0/1:142,30:216:16:16,0,3189	5	0	3	2
chr11	5856952	5856952	C	T	exonic	OR52E8	.	nonsynonymous SNV	OR52E8:NM_001005168:exon1:c.G751A:p.G251S	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00866060324559	.	.	6.708e-05	0	8.754e-05	0	0	3.021e-05	0	0.0003	5.17e-05	8	154602	rs772802955	2.883e-05	2.874e-05	2.185e-05	3.587e-05	0.0009	2.159e-05	1.914e-05	0.0003	0.0002	0	0	0	0	0	0.0009	9.906e-06	6.656e-05	0.0003	2.035e-05	1.994e-05	0	4.17e-05	0.0002	5.41e-06	2.5e-06	.	.	0	0	6.656e-05	0	0	0	0	1.474e-05	0	0.0002	0.038	0.42783	D	0.081	0.41742	T	0.005	0.12996	B	0.014	0.16862	B	0.024598	0.26236	N	0.325195	1	0.08975	N	0.395	0.12235	N	1.23	0.36872	T	0.53	0.02808	N	0.084	0.06059	-1.0503	0.14313	T	0.048	0.20315	T	10	0.06550974	0.08850	T	0.008661	0.22878	T	0.030	0.07022	0.467	0.53891	0.110078149338	0.10416	0.20002347685955305	0.19919	0.00297416347978	0.00257	0.182556480169	0.00120	T	9.78E-4	0.00517	T	-0.478074	0.00759	T	-0.622775	0.10968	T	0.368437200784683	0.27737	T	0.752925	0.37500	T	0.07274225	0.16204	0.06896744	0.14471	0.07274225	0.16203	0.06896744	0.14471	-2.499	0.05774	T	.	.	0.097	0.15921	B	.	.	-0.294018	0.02643	0.335	0.92745811466875849	0.22251	0.10795	0.16198	N	AEFI	0.151546	0.27605	N	-0.867087704025955	0.11632	0.5623966	-0.866059856647842	0.12902	0.6663626	1.66652266131376E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.42	-0.0605	0.13120	-2.678000	0.00911	.	.	-0.199000	0.08999	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.3355:0.4878:0.0:0.1767	5.157	0.14369	737	0.53483	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.000505	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	2154.14	34	chr11	5856952	.	C	T	2154.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.45;DP=496;ExcessHet=0.2348;FS=1.156;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.069;SOR=0.572	GT:AD:DP:GQ:PL	0/1:47,36:83:99:989,0,1281	8	0	2	0
chr11	6556844	6556844	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.C7549T:p.R2517C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.0194588238816	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1460401085	2.287e-05	2.189e-05	2.538e-05	2.028e-05	8.394e-05	1.655e-05	1.416e-05	2.225e-05	1.549e-05	0	0	0	8.394e-05	0	0	2.595e-05	0	1.262e-05	2.629e-05	2.627e-05	5.14e-05	0	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.999434	0.47043	D	2.28	0.64929	M	0.7	0.51474	T	-7.48	0.94988	D	0.71	0.71321	-0.7612	0.57340	T	0.197	0.55244	T	9	0.6914877	0.71883	D	0.019459	0.41828	T	0.367	0.68670	.	.	0.503930629158	0.50032	0.9588028900333598	0.95866	0.312029139703	0.33506	0.526361465454	0.42522	T	0.036714	0.24209	T	0.0604001	0.59663	T	0.052584	0.73755	D	0.903963446617126	0.55730	D	0.782022	0.41734	T	0.6564899	0.75711	0.54153067	0.73503	0.6564899	0.75712	0.54153067	0.73503	-6.56	0.50747	T	.	.	0.472	0.63300	A	.;.	.;.	4.757281	0.76885	26.6	0.99933573328818703	0.99488	0.81431	0.40836	D	AEFGBI	0.255472	0.37459	N	0.584051965646026	0.72179	5.76515	0.622820547023997	0.76601	6.52112	0.999960818826582	0.48965	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.88	5.88	0.94564	3.011000	0.49254	5.951000	0.51650	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.1518:0.8482:0.0:0.0	13.973	0.63766	464	0.78488	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3048.43	106	chr11	6556844	.	C	T	3048.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.331;DP=760;ExcessHet=0;FS=0.985;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.6;ReadPosRankSum=1.43;SOR=0.793	GT:AD:DP:GQ:PL	0/1:118,124:242:99:3060,0,2781	9	0	1	0
chr11	6557411	6557411	C	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon25:c.C8116A:p.P2706T	.	322	1166	29	5	0	39	0.0164488	.	.	.	701888	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0035	0.00199681	0.0052	0.0010	0.0052	0	0.0109	0.0061	0.0053	0.0057	0.0016041	248	154602	rs192678564	0.0043	0.0042	0.0042	0.0044	0.0056	0.0042	0.0042	0.0052	0.0050	0.0008	0.0033	0.0089	0	0.0027	0.0053	0.0045	0.0039	0.0056	0.0033	0.0033	0.0035	0.0030	0.0050	0.0030	0.0030	0.0045	0.0043	0.0010	0	0.0033	0.0060	0	0.0019	0.0102	0.0049	0.0033	0.0050	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.748186	0.33898	D	1.975	0.53506	M	1.2	0.37405	T	-2.05	0.47008	N	0.139	0.14905	-0.8769	0.50005	T	0.083	0.32700	T	9	0.0074189305	0.00169	T	.	.	.	0.149	0.39377	.	.	0.471292358255	0.46759	0.1847132401032464	0.18389	0.56369228266	0.52792	0.417725682259	0.27524	T	0.007957	0.07329	T	-0.419871	0.01713	T	-0.374249	0.36393	T	0.0172735814394521	0.00468	T	0.458654	0.13238	T	0.1698434	0.37524	0.23968908	0.49325	0.1698434	0.37524	0.23968908	0.49324	-3.654	0.18641	T	.	.	0.230	0.46238	B	.;.	.;.	1.907854	0.24231	16.32	0.99451365453118268	0.65274	0.96239	0.68176	D	AEFDBI	0.183617	0.31094	N	0.325248348728929	0.57448	3.912109	0.360639371663606	0.59152	4.090616	0.999999994108912	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.16	5.16	0.70563	1.685000	0.37277	1.784000	0.28742	0.599000	0.40250	0.541000	0.27275	0.453000	0.24963	0.208000	0.22126	0.0:1.0:0.0:0.0	17.652	0.88071	464	0.78488	.;.	.	.	.	.	.	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	0	0	1	0	0.007888	0.000000	0.012963	0.000000	0.000000	0.000000	0.017123	0.013636	0.1	3693.14	106	chr11	6557411	.	C	A	3693.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.461;DP=725;ExcessHet=0.2348;FS=0.998;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.32;ReadPosRankSum=-1.319;SOR=0.776	GT:AD:DP:GQ:PL	0/1:57,66:123:99:1680,0,1467	8	0	2	0
chr11	7938716	7938716	C	T	exonic	OR10A3	.	nonsynonymous SNV	OR10A3:NM_001003745:exon1:c.G805A:p.E269K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.0038765257092	0.0005	.	0.0003	0	0	0	0	0.0005	0	6.056e-05	0.0002264	35	154602	rs142623287	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0001	0	0	0	0	0.0003	0.0003	0.0003	0.0002	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0001	0.0003	0.0003	4.83e-05	0	6.545e-05	0	0	0	0	0.0004	0.0005	0	0.242	0.17584	T	0.457	0.12704	T	0.958	0.54977	D	0.419	0.45047	B	0.017456	0.27721	U	0.162995	0.999448	0.21182	N	1.2	0.30300	L	8.73	0.00091	T	-2.05	0.47008	N	0.206	0.22870	-0.7392	0.58493	T	0.000	0.00152	T	10	0.06826961	0.09631	T	0.003877	0.09117	T	0.076	0.22200	.	.	0.531245695338	0.52774	0.10761347339283284	0.10690	0.030149542159	0.03112	0.24258056283	0.03028	T	0.009584	0.08721	T	-0.453981	0.01070	T	-0.555738	0.16779	T	0.154635116457939	0.17466	T	.	.	.	0.17411381	0.38197	0.1620334	0.37659	0.17411381	0.38197	0.1620334	0.37658	-5.333	0.40268	T	.	.	0.123	0.25721	B	.;.	.;.	3.736124	0.53476	23.4	0.99783850695842202	0.87043	0.26584	0.23035	N	AEFBI	0.080422	0.16261	N	0.020454684407766	0.42785	2.58456	-0.00974991343322435	0.39274	2.32609	3.21668443426285E-4	0.06540	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	4.65	4.65	0.57626	0.513000	0.22476	0.874000	0.22338	0.541000	0.25215	0.000000	0.06391	0.000000	0.08366	0.873000	0.41610	0.0:0.8998:0.0:0.1002	8.903	0.34663	793	0.45818	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1826.43	55	chr11	7938716	.	C	T	1826.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.02;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.77;ReadPosRankSum=-1.467;SOR=0.662	GT:AD:DP:GQ:PL	0/1:69,74:143:99:1838,0,1556	9	0	1	0
chr11	13010508	13010508	C	A	exonic	RASSF10	.	nonsynonymous SNV	RASSF10:NM_001080521:exon1:c.C932A:p.A311D	.	340	1165	16	1	0	18	0.0076661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0034	0.00419329	0.0082	0	0.0112	0	0.0045	0.0146	0	0.0051	0.0018305	283	154602	rs200457508	0.0064	0.0062	0.0065	0.0064	0.0073	0.0063	0.0063	0.0072	0.0071	0.0012	0.0030	0.0103	0	0.0024	0.0067	0.0073	0.0062	0.0017	0.0042	0.0042	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0036	0.0072	0	0.0017	0.0137	0.0067	0.0043	0.0017	.	.	.	0.627	0.07267	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	-1.5	0.00507	N	.	.	.	.	.	.	0.129	0.12341	.	.	.	.	.	.	.	0.005890757	0.00132	T	.	.	.	.	.	.	.	0.17948927462	0.17512	0.19620850095321724	0.19537	.	.	0.728413641453	0.71275	T	0.011056	0.09913	T	-0.45404	0.01069	T	-0.419847	0.31093	T	.	.	.	0.305069	0.05837	T	0.19861113	0.41770	0.29247585	0.55275	0.19861113	0.41770	0.29247585	0.55274	-3.397	0.15016	T	.	.	0.057	0.00604	B	.	.	1.401140	0.18154	13.58	0.84258461742934376	0.15187	0.06341	0.12339	N	AEFDBCIJ	.	.	.	.	.	.	.	.	.	0.99999994688726	0.74766	0.095506	0.02484	0	0.085267	0.02369	0	0.183864	0.04481	0	0.109499	0.03221	0	0.127789	0.25488	5.06	2.67	0.30756	3.014000	0.49278	7.021000	0.57267	-0.062000	0.16622	1.000000	0.71638	1.000000	0.68203	0.034000	0.13613	0.6881:0.3119:0.0:0.0	10.507	0.44026	898	0.25240	.	.	.	.	.	.	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	0.007206	0.005556	0.006270	0.000000	0.000000	0.009434	0.019868	0.004065	0.1	2040.14	33	chr11	13010508	.	C	A	2040.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.678;DP=464;ExcessHet=0.2348;FS=7.592;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.68;ReadPosRankSum=0.784;SOR=0.83	GT:AD:DP:GQ:PL	0/1:27,40:67:99:1124,0,784	8	0	2	0
chr11	17169343	17169343	A	C	exonic	PIK3C2A	.	nonsynonymous SNV	PIK3C2A:NM_002645:exon2:c.T399G:p.F133L,PIK3C2A:NM_001321378:exon3:c.T399G:p.F133L	.	433	1053	34	2	0	38	0.0177239	.	.	.	1165988	PIK3C2A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.040	0.00620170565584	0.0024	0.00139776	0.0034	0.0002	0.0031	0	0.0002	0.0034	0.0022	0.0087	0.0030983	479	154602	rs61755370	0.0029	0.0029	0.0026	0.0031	0.0215	0.0028	0.0028	0.0184	0.0173	0.0005	0.0022	0.0062	2.519e-05	5.616e-05	0.0215	0.0026	0.0033	0.0085	0.0020	0.0020	0.0020	0.0019	0.0062	0.0018	0.0017	0.0045	0.0039	0.0005	0	0.0010	0.0052	0	0	0.0068	0.0030	0.0047	0.0062	1.0	0.00964	T	0.666	0.06386	T	0.0	0.02946	B	0.0	0.01387	B	0.071503	0.21468	N	0.484862	1	0.81001	D	-1.7	0.00354	N	0.18	0.60361	T	-0.81	0.22294	N	0.043	0.01577	-1.0351	0.18825	T	0.056	0.23413	T	10	0.005002916	0.00108	T	0.006202	0.16259	T	0.040	0.10527	0.206	0.12216	0.425028116352	0.42120	0.06770891272091872	0.06708	0.162565464349	0.18344	0.315131723881	0.12682	T	0.201752	0.55973	T	-0.562616	0.00245	T	-0.575245	0.14972	T	0.00101883968607446	0.00010	T	0.448855	0.12628	T	0.036350515	0.04456	0.0372242	0.03330	0.04768015	0.08187	0.034424357	0.02508	-2.401	0.05139	T	.	.	0.122	0.25495	B	.	.	1.767237	0.22475	15.64	0.50465812015812517	0.04389	0.95000	0.63075	D	AEFBI	0.221574	0.34618	N	-0.863211492479093	0.11727	0.5674938	-0.636104647056497	0.18567	0.9924833	0.988174571734358	0.31436	0.706548	0.73137	0	0.71359	0.82159	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	1.45	0.21708	1.968000	0.40124	3.318000	0.37521	-0.122000	0.13826	0.998000	0.41325	1.000000	0.68203	0.971000	0.54645	0.6581:0.0:0.2145:0.1274	5.542	0.16331	315	0.87208	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016616	0.000000	0.014946	0.023392	0.000000	0.051724	0.021341	0.018939	0.05	1669.43	35	chr11	17169343	.	A	C	1669.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.59;DP=418;ExcessHet=0;FS=5.108;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.53;ReadPosRankSum=0.063;SOR=0.9	GT:AD:DP:GQ:PL	0/1:40,61:101:99:1681,0,962	9	0	1	0
chr11	17640948	17640948	G	A	exonic	OTOG	.	nonsynonymous SNV	OTOG:NM_001277269:exon50:c.G8083A:p.V2695M,OTOG:NM_001292063:exon51:c.G8047A:p.V2683M	Deafness, autosomal recessive 18B, Autosomal recessive	7	1513	1	1	0	3	0.000990426	.	.	.	3843895	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.187	0.11897358407	.	.	.	.	.	.	.	.	.	.	.	.	.	rs989720036	3.94e-05	3.831e-05	3.252e-05	4.647e-05	0.0005	3.099e-05	2.781e-05	0.0001	7.636e-05	0	0	0	0	0	0.0005	4.542e-05	0	3.786e-05	2.627e-05	2.626e-05	3.853e-05	1.344e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.002	0.72154	D	0.002	0.79402	D	.	.	.	.	.	.	0.000171	0.48594	U	0.000000	0.999909	0.53665	D	2.83	0.82355	M	2.18	0.18875	T	-2.53	0.54864	D	0.69	0.69562	-1.0159	0.25045	T	0.110	0.39699	T	8	0.75772774	0.76109	D	0.118974	0.79916	D	0.187	0.46274	.	.	0.206339911435	0.20273	0.6255715220295376	0.62490	.	.	0.661301493645	0.61596	T	0.340961	0.70992	T	-0.164824	0.26019	T	-0.302077	0.44505	T	0.906364858150482	0.56036	D	0.89801	0.64352	D	0.27453652	0.50519	0.3152414	0.57511	0.27453652	0.50519	0.3152414	0.57511	-6.008	0.46347	T	.	.	0.360	0.57243	A	.;.	.;.	4.210524	0.63609	24.6	0.99813069434306834	0.89708	0.99253	0.93488	D	AEFDBI	0.755080	0.69476	D	0.2838531355805	0.55330	3.697088	0.263002238098182	0.53392	3.508451	0.996019052292943	0.34469	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.613276	0.41899	0	.	.	4.47	4.47	0.53770	6.584000	0.73948	8.477000	0.77288	0.606000	0.46413	1.000000	0.71638	1.000000	0.68203	0.072000	0.16771	0.0:0.0:1.0:0.0	14.439	0.66879	677	0.60274	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2404.43	41	chr11	17640948	.	G	A	2404.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.422;DP=524;ExcessHet=0;FS=0.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.14;ReadPosRankSum=1.77;SOR=0.771	GT:AD:DP:GQ:PL	0/1:98,100:198:99:2416,0,2324	9	0	1	0
chr11	33085948	33085948	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1837T:p.P613S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.018622287866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.455e-06	1.231e-05	1.432e-06	1.48e-06	1.865e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.865e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.0	0.92824	D	0.991	0.64070	D	0.962	0.70672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.015	0.55033	M	.	.	.	-6.31	0.90812	D	0.525	0.55453	-0.4215	0.71343	T	0.412	0.75992	T	8	0.9084526	0.90210	D	0.018622	0.40743	T	0.385	0.70194	0.826	0.93721	0.511911713033	0.50833	0.885045201905812	0.88473	2.47938944519	0.97530	0.844974219799	0.88853	D	0.520901	0.83243	D	0.10266	0.64579	D	-0.0903126	0.64138	T	0.99573141336441	0.87972	D	0.960904	0.86380	D	0.54860973	0.69878	0.59958357	0.76740	0.54860973	0.69879	0.59958357	0.76741	-5.785	0.44443	T	.	.	0.983	0.91815	P	.;.	.;.	5.094266	0.85087	28.5	0.99882518470572146	0.95813	0.99420	0.95802	D	AEFBI	0.878547	0.80389	D	0.859076414803033	0.89619	10.04646	0.8834401244028	0.94808	13.06098	0.999999999990392	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:1.0:0.0	20.879	0.99870	537	0.73184	Suppressor of forked;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	92.09	70	chr11	33085948	.	G	A	92.09	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.007;DP=575;ExcessHet=0;FS=48.456;InbreedingCoeff=-0.0843;MLEAC=1;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.88;ReadPosRankSum=1.02;SOR=4.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,8:49:99:0|1:33085948_G_A:103,0,1485:33085948	8	0	1	1
chr11	33085953	33085953	G	A	exonic	CSTF3	.	nonsynonymous SNV	CSTF3:NM_001326:exon19:c.C1832T:p.P611L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.0396852524191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.326e-05	6.43e-05	1.157e-05	1.503e-05	6.053e-05	8.29e-06	6.84e-06	2.012e-05	1.152e-05	0	3.446e-05	4.916e-05	0	0	0	1.035e-05	1.79e-05	6.053e-05	6.62e-06	1.317e-05	1.292e-05	0	2.439e-05	0	0	.	.	2.439e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.004	0.74150	D	0.874	0.48047	P	0.828	0.59497	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.365	0.68172	M	.	.	.	-7.33	0.94566	D	0.652	0.66272	-0.1073	0.79931	T	0.505	0.81344	D	8	0.95427924	0.94780	D	0.039685	0.58951	D	0.486	0.77464	0.873	0.96477	0.54507417769	0.54161	0.684483676958743	0.68387	1.74875396502	0.90984	0.900665163994	0.96514	D	0.370097	0.73469	T	0.196326	0.73549	D	0.0442322	0.73204	D	0.996447443962097	0.89358	D	0.967803	0.88985	D	0.7057624	0.78373	0.7466418	0.85024	0.7057624	0.78374	0.7466418	0.85025	-9.063	0.68102	D	.	.	0.945	0.86433	P	.;.	.;.	5.400781	0.90444	31	0.99879928330334211	0.95653	0.99474	0.96475	D	AEFBI	0.884655	0.81451	D	0.869130109929946	0.90168	10.28302	0.885875043347139	0.94926	13.16032	0.999999999979658	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	9.806000	0.98257	11.894000	0.99172	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	20.557	0.99307	537	0.73184	Suppressor of forked;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	261.2	81	chr11	33085953	.	G	A	261.2	.	AC=3;AF=0.375;AN=8;BaseQRankSum=-0.861;DP=523;ExcessHet=0.7463;FS=183.098;InbreedingCoeff=-0.4347;MLEAC=3;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.65;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,10:51:99:0|1:33085948_G_A:126,0,1480:33085948	1	0	3	6
chr11	34882782	34882782	C	T	exonic	APIP	.	nonsynonymous SNV	APIP:NM_015957:exon7:c.G664A:p.V222I	.	.	.	.	.	.	.	.	.	.	.	3463551	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.128	0.0165648018443	7.7e-05	.	0.0001	0.0002	8.669e-05	0.0003	0	7.516e-05	0	0.0002	9.06e-05	14	154602	rs142291500	3.776e-05	4.036e-05	3.007e-05	4.554e-05	0.0002	2.971e-05	2.665e-05	8.234e-05	5.807e-05	0	4.509e-05	0	0.0002	0	0.0002	2.617e-05	8.309e-05	0.0001	5.26e-05	5.255e-05	5.141e-05	5.384e-05	0.0001	2.558e-05	1.831e-05	3.251e-05	1.916e-05	9.658e-05	0	0.0001	0	0	0	0	2.94e-05	0	0	0.405	0.10311	T	0.338	0.18125	T	0.582	0.38854	P	0.13	0.32896	B	0.000000	0.84330	D	0.000000	0.999993	0.58761	D	1.065	0.27018	L	1.96	0.22270	T	-0.59	0.17624	N	0.097	0.07811	-1.1402	0.01350	T	0.039	0.16634	T	10	0.07320386	0.11029	T	0.016565	0.37889	T	0.128	0.35103	.	.	0.12205267543	0.11705	0.484224316049868	0.48342	0.272220388985	0.29735	0.30449539423	0.11074	T	0.015603	0.13056	T	-0.444884	0.01210	T	-0.544757	0.17831	T	0.0157879535108805	0.00368	T	0.768323	0.39714	T	0.12695049	0.29721	0.15072565	0.35536	0.12695049	0.29721	0.15072565	0.35535	-5.124	0.38159	T	.	.	0.108	0.20469	B	.	.	1.558299	0.19961	14.52	0.85209729036990889	0.15752	0.91873	0.54448	D	AEFBI	0.209519	0.33549	N	-0.581781245730189	0.19498	1.02095	-0.521286304526897	0.21575	1.167809	0.972214309710864	0.29352	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.36	4.45	0.53365	3.104000	0.49998	0.615000	0.20071	-0.172000	0.11096	0.991000	0.37257	0.093000	0.22564	0.093000	0.17941	0.0:0.9328:0.0:0.0672	17.180	0.86731	785	0.46916	Class II aldolase/adducin N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	321.43	35	chr11	34882782	.	C	T	321.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.18;DP=369;ExcessHet=0;FS=6.531;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.57;MQRankSum=-1.815;QD=6.7;ReadPosRankSum=0.096;SOR=0.188	GT:AD:DP:GQ:PL	0/1:30,18:48:99:333,0,796	9	0	1	0
chr11	34995020	34995020	A	G	exonic	PDHX	.	nonsynonymous SNV	PDHX:NM_001166158:exon6:c.A673G:p.T225A,PDHX:NM_001135024:exon11:c.A1309G:p.T437A,PDHX:NM_003477:exon11:c.A1354G:p.T452A	Lacticacidemia due to PDX1 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00542557553915	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.421e-06	3.42e-06	1.361e-06	5.501e-06	8.964e-05	1e-06	7.3e-07	2.375e-05	1.258e-05	8.964e-05	0	0	0	0	0	8.994e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	0.03787	T	0.957	0.03039	T	0.0	0.02946	B	0.002	0.06944	B	0.759091	0.06529	N	1.097370	1	0.08975	N	-0.1	0.04694	N	1.0	0.41392	T	-0.41	0.14000	N	0.037	0.05670	-0.9869	0.33371	T	0.041	0.17530	T	10	0.025403231	0.00735	T	0.005426	0.13923	T	0.037	0.09474	0.401	0.43081	0.151104730317	0.14643	0.3027039040579741	0.30183	0.0422848965363	0.04555	0.273217439651	0.06565	T	0.197377	0.55404	T	-0.282314	0.10424	T	-0.643301	0.09430	T	0.0157330930233002	0.00364	T	0.481652	0.14579	T	0.04313195	0.06666	0.040521085	0.04399	0.04313195	0.06665	0.040521085	0.04399	-2.769	0.07901	T	0.10545918307054926	0.08363	0.069	0.04932	B	.;.;.	.;.;.	0.917089	0.12915	9.427	0.5534388936552217	0.05323	0.03929	0.09320	N	AEFDGBI	0.061649	0.11800	N	-1.2064844489601	0.04904	0.222356	-1.13960459518528	0.06956	0.3366227	0.988294172743724	0.31467	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	6.04	-3.15	0.04912	0.421000	0.20999	0.098000	0.14610	0.756000	0.94297	0.002000	0.15269	0.000000	0.08366	0.982000	0.59238	0.3988:0.0:0.485:0.1162	8.664	0.33272	732	0.54084	.;2-oxoacid dehydrogenase acyltransferase, catalytic 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	.	.	.	.	.	.	.	.	0.05	874.43	33	chr11	34995020	.	A	G	874.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.219;DP=424;ExcessHet=0;FS=2.57;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.25;ReadPosRankSum=-0.331;SOR=0.713	GT:AD:DP:GQ:PL	0/1:63,43:106:99:886,0,1479	9	0	1	0
chr11	47332855	47332855	C	G	exonic	MYBPC3	.	nonsynonymous SNV	MYBPC3:NM_000256:exon30:c.G3449C:p.R1150T	Cardiomyopathy, dilated, 1MM, Autosomal dominant;Cardiomyopathy, hypertrophic, 4, Autosomal dominant;Left ventricular noncompaction 10, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1009714	Hypertrophic_cardiomyopathy	Human_Phenotype_Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194,Orphanet:217569	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.188	0.0870273947967	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746613719	1.374e-06	1.368e-06	0	2.766e-06	1.803e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.803e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.427	0.09629	T	0.744	0.05072	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-2.3	0.00097	N	-2.07	0.85943	D	0.61	0.02480	N	0.13	0.13341	-0.8430	0.52446	T	0.126	0.43091	T	9	0.022209078	0.00549	T	0.087027	0.74855	D	0.188	0.46444	.	.	0.584054198399	0.58079	0.302320559771619	0.30145	0.32203709392	0.34400	0.229677855968	0.01944	T	0.10971	0.42382	T	-0.154228	0.27653	T	-0.459315	0.26674	T	0.322673857212067	0.25930	T	0.393561	0.09813	T	0.077448465	0.17579	0.07441083	0.16275	0.077448465	0.17578	0.07441083	0.16275	-3.973	0.23398	T	0.043743702771499186	0.00500	0.363	0.57424	A	.;.;.	.;.;.	-0.696154	0.01330	0.073	0.65839798686175	0.07887	0.02103	0.06232	N	AEFGBI	0.512505	0.54069	D	-2.10647995678706	0.00124	0.00530402	-2.10700138178717	0.00180	0.007923808	0.999655513863386	0.41424	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.17	-10.3	0.00281	-1.290000	0.02886	-3.793000	0.02533	-0.192000	0.09343	0.000000	0.06391	0.000000	0.08366	0.836000	0.39433	0.0734:0.1896:0.4786:0.2583	5.986	0.18662	17	0.98681	Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2086.43	40	chr11	47332855	.	C	G	2086.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.24;DP=507;ExcessHet=0;FS=6.442;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.039;SOR=0.554	GT:AD:DP:GQ:PL	0/1:90,86:176:99:2098,0,2173	9	0	1	0
chr11	54603733	54603733	G	A	exonic	OR4C46	.	nonsynonymous SNV	OR4C46:NM_001004703:exon1:c.C266T:p.A89V	.	.	.	.	.	.	.	.	.	.	.	2299009	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.070	0.00105763354321	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs144006817	2.531e-05	2.531e-05	2.042e-05	3.026e-05	2.236e-05	1.868e-05	1.631e-05	1.32e-06	9.6e-07	0	2.236e-05	0.0010	0	0	0	4.497e-06	9.938e-05	0	3.286e-05	3.283e-05	5.139e-05	1.346e-05	2.413e-05	1.261e-05	7.98e-06	.	.	2.413e-05	0	0	0.0009	0	0	0	0	0.0005	0	0.048	0.40068	D	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.59	0.00519	T	-0.08	0.08187	N	0.04	0.01347	.	.	.	.	.	.	.	0.055717528	0.06134	T	.	.	.	.	.	.	.	.	.	0.6692323664589049	0.66861	.	.	.	.	.	0.001249	0.00734	T	.	.	.	.	.	.	.	.	.	0.116788	0.00897	T	.	.	.	.	.	.	.	.	-3.71	0.19466	T	.	.	0.078	0.06849	B	.	.	2.185092	0.27852	17.60	.	.	.	.	.	.	0.023735	0.01365	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.115000	0.10713	.	.	0.249000	0.18320	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1977.43	38	chr11	54603733	.	G	A	1977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.107;DP=798;ExcessHet=0;FS=6.804;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.27;MQRankSum=-2.244;QD=12.13;ReadPosRankSum=-0.076;SOR=1.15	GT:AD:DP:GQ:PL	0/1:83,80:163:99:1989,0,2224	9	0	1	0
chr11	55265071	55265071	A	G	exonic	TRIM48	.	nonsynonymous SNV	TRIM48:NM_024114:exon2:c.A216G:p.I72M	.	474	1046	0	2	0	4	0.0019084	.	.	.	3614366	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.205	0.00603839410093	.	.	8.461e-06	0	0	0	0	1.515e-05	0	0	3.84e-05	1	26028	rs200554737	6.967e-07	0.0002	1.384e-06	0	9.097e-07	0	0	.	.	0	0	0	0	0	0	9.097e-07	0	0	0	1.332e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.8	0.83893	D	1.51	0.00728	N	0.189	0.20660	-0.8977	0.48224	T	0.220	0.58358	T	9	0.044616252	0.03439	T	0.006038	0.15787	T	0.205	0.49236	.	.	0.209622950755	0.20551	0.043442793869675284	0.04289	0.0030321674903	0.00261	0.559126973152	0.47145	T	.	.	.	-0.114763	0.33982	T	-0.402626	0.33078	T	0.0155853908576045	0.00355	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01622	B	.	.	0.234350	0.06155	2.600	0.34479908100757001	0.02111	0.00158	0.00946	N	AEFI	0.017976	0.00510	N	-1.44646405740079	0.02245	0.0989146	-1.52489806435378	0.02154	0.09863201	1.3411304174261E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.596	-1.19	0.09091	-0.106000	0.10860	-6.607000	0.01353	0.172000	0.17770	0.001000	0.13787	0.000000	0.08366	0.211000	0.22211	0.5674:0.0:0.4326:0.0	4.051	0.09277	160	0.93798	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	76.43	36	chr11	55265071	.	A	G	76.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.537;DP=424;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.74;MQRankSum=-9.852;QD=0.65;ReadPosRankSum=-3.31;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,13:118:88:0|1:55265071_A_G:88,0,4254:55265071	9	0	1	0
chr11	55773543	55773543	G	A	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.G106A:p.V36I	.	435	991	89	7	0	103	0.0494005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	.	0.0094	0.0071885	0.0094	0.0038	0.0055	0.0002	0.0029	0.0124	0.0165	0.0105	0.0093078	1439	154602	rs147031394	0.0096	0.0096	0.0093	0.0099	0.0541	0.0095	0.0094	0.0492	0.0472	0.0040	0.0080	0.0194	2.52e-05	0.0024	0.0541	0.0099	0.0116	0.0108	0.0090	0.0090	0.0092	0.0087	0.0143	0.0086	0.0084	0.0128	0.0122	0.0041	0	0.0143	0.0214	0.0002	0.0018	0.0408	0.0115	0.0133	0.0123	.	.	.	.	.	.	0.002	0.09854	B	0.001	0.04355	B	0.859837	0.08903	N	0.894418	1	0.08975	N	-1.24	0.00794	N	.	.	.	.	.	.	.	.	-0.9992	0.30143	T	0.000	0.00075	T	10	0.0063220263	0.00143	T	.	.	.	.	.	.	.	.	.	0.026461992922624716	0.02596	.	.	0.204620480537	0.00603	T	9.57E-4	0.00501	T	-0.821085	0.00005	T	-0.94182	0.00289	T	0.00201569703242085	0.00021	T	0.758424	0.38228	T	0.03243204	0.03267	0.031081052	0.01648	0.03243204	0.03267	0.031081052	0.01647	-1.204	0.01256	T	.	.	0.070	0.03625	B	.	.	-1.707520	0.00192	0.003	0.086283404533563965	0.00071	0.00206	0.01180	N	AEFI	0.014591	0.00239	N	-1.7650134367774	0.00637	0.02745338	-1.79490174311532	0.00776	0.03459685	1.58383268683026E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.52	-4.35	0.03402	-2.708000	0.00890	-10.712000	0.00673	-2.110000	0.00390	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3984:0.0:0.342:0.2596	4.036	0.09214	154	0.93967	.	.	.	.	.	.	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	0.036757	0.015152	0.031250	0.052632	0.050000	0.077586	0.021341	0.037879	0.1	2826.14	36	chr11	55773543	.	G	A	2826.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.192;DP=519;ExcessHet=0.2348;FS=5.18;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.58;ReadPosRankSum=0.756;SOR=1.008	GT:AD:DP:GQ:PL	0/1:64,49:113:99:1201,0,1618	8	0	2	0
chr11	56319077	56319077	G	C	exonic	OR8K3	.	nonsynonymous SNV	OR8K3:NM_001005202:exon1:c.G771C:p.M257I	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.00134783890589	0.0003	0.00119808	0.0008	9.614e-05	0.0002	0	0	0.0004	0.0055	0.0041	0.0007115	110	154602	rs150576458	0.0005	0.0005	0.0004	0.0006	0.0038	0.0005	0.0004	0.0035	0.0034	0	6.71e-05	0	0	0	0.0026	0.0003	0.0007	0.0038	0.0003	0.0003	0.0002	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	7.218e-05	0	0	0	0	0	0	0.0003	0.0005	0.0037	.	.	.	.	.	.	0.039	0.21116	B	0.12	0.32230	B	0.000045	0.53742	N	0.078950	0.965178	0.25950	N	1.06	0.26948	L	.	.	.	.	.	.	.	.	-1.0079	0.27572	T	0.000	0.00152	T	10	0.004699081	0.00099	T	0.001348	0.01936	T	.	.	0.344	0.33788	.	.	0.14507739362681482	0.14430	.	.	0.246215850115	0.03379	T	0.024615	0.18566	T	-0.569801	0.00222	T	-0.5914	0.13545	T	0.0460714020757364	0.04797	T	0.673133	0.28166	T	0.27680796	0.50741	0.4421265	0.67473	0.27680796	0.50741	0.4421265	0.67473	-4.383	0.29326	T	.	.	0.283	0.54405	B	.;.;.	.;.;.	2.543475	0.32903	19.18	0.96979823865404358	0.31855	0.69946	0.34390	D	AEFBI	0.076460	0.15381	N	-0.189350025225239	0.33578	1.906511	-0.0801487917954386	0.36212	2.104506	1.50422464806738E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.28	4.28	0.50183	-0.216000	0.09271	.	.	0.509000	0.23192	0.000000	0.06391	0.005000	0.19230	0.992000	0.67800	0.0:0.1891:0.642:0.1689	7.793	0.28293	189	0.92630	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1613.43	39	chr11	56319077	.	G	C	1613.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.12;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-0.852;SOR=0.742	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1625,0,1650	9	0	1	0
chr11	58031031	58031031	C	T	exonic	OR6Q1	.	nonsynonymous SNV	OR6Q1:NM_001005186:exon1:c.C79T:p.L27F	.	434	1083	3	2	0	7	0.00322135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.00363523503977	0.0016	0.000998403	0.0011	0.0002	0.0003	0	0	0.0017	0.0011	0.0010	0.0010284	159	154602	rs75126969	0.0011	0.0011	0.0010	0.0011	0.0043	0.0010	0.0010	0.0030	0.0026	0.0003	0.0005	0.0023	2.519e-05	1.872e-05	0.0043	0.0011	0.0009	0.0014	0.0009	0.0009	0.0011	0.0007	0.0015	0.0008	0.0007	0.0013	0.0012	0.0003	0	0.0002	0.0017	0.0002	0	0.0136	0.0015	0.0019	0.0008	0.601	0.05618	T	.	.	.	0.027	0.19556	B	0.024	0.20255	B	0.694460	0.06165	N	1.246920	1	0.08975	N	1.435	0.35949	L	7.31	0.00421	T	-0.81	0.22294	N	0.042	0.01498	-0.9746	0.36213	T	0.001	0.00255	T	10	0.009417981	0.00213	T	0.003635	0.08340	T	0.014	0.01968	.	.	0.0551355673512	0.04727	0.07002682569971383	0.06939	0.0351969744891	0.03713	0.197341561317	0.00384	T	0.011654	0.10368	T	-0.668838	0.00056	T	-0.763595	0.02985	T	0.00109979949434447	0.00011	T	0.170983	0.01619	T	0.05155552	0.09486	0.052616816	0.08704	0.05155552	0.09486	0.052616816	0.08703	-4.71	0.33525	T	.	.	0.085	0.09965	B	.	.	-0.444490	0.02052	0.187	0.32540684684743304	0.01891	0.05065	0.10857	N	AEFBI	0.060685	0.11551	N	-1.35541503854306	0.03070	0.1365301	-1.39477615941573	0.03307	0.1540123	0.00286400637471297	0.09760	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.32	-1.88	0.07294	-1.792000	0.01853	-4.040000	0.02377	-1.122000	0.01471	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.123:0.3624:0.1205:0.3941	2.089	0.03431	421	0.81399	.	.	.	.	.	.	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	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.006098	0.003788	0.05	2219.43	34	chr11	58031031	.	C	T	2219.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.175;DP=553;ExcessHet=0;FS=2.913;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.13;SOR=0.801	GT:AD:DP:GQ:PL	0/1:133,101:234:99:2231,0,3128	9	0	1	0
chr11	61518675	61518675	A	C	exonic	SYT7	.	nonsynonymous SNV	SYT7:NM_004200:exon9:c.T1164G:p.I388M,SYT7:NM_001252065:exon10:c.T1389G:p.I463M,SYT7:NM_001300773:exon10:c.T1296G:p.I432M,SYT7:NM_001365809:exon13:c.T2013G:p.I671M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0330276916687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.33091	T	0.12	0.35970	T	0.016	0.17332	B	0.016	0.17743	B	0.005877	0.32444	N	0.258372	0.999401	0.46935	D	0.32	0.10341	N	-0.66	0.72348	T	-1.11	0.29114	N	0.123	0.25253	-1.0471	0.15217	T	0.147	0.47165	T	10	0.1027568	0.18852	T	0.033028	0.54691	D	0.106	0.30130	0.604	0.73586	0.423782897388	0.41995	0.5382081207074136	0.53745	0.91076110568	0.71049	0.708953380585	0.68442	T	0.126289	0.45257	T	-0.147257	0.28742	T	-0.449301	0.27773	T	0.1329281533593	0.15651	T	0.912209	0.68770	D	0.15276909	0.34663	0.12166543	0.29353	0.15276909	0.34662	0.12166543	0.29353	-3.502	0.22273	T	.	.	0.127	0.35849	B	.;.;.;.;.;.	.;.;.;.;.;.	0.974684	0.13517	10.04	0.98964039431069628	0.49383	0.18818	0.20415	N	AEFDGBI	0.305989	0.41326	N	-1.10147112712627	0.06617	0.3051266	-1.05603602164149	0.08582	0.4226283	0.996159309052451	0.34559	0.695654	0.57023	0	0.59043	0.45803	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	3.82	-2.79	0.05494	-1.266000	0.02950	-1.973000	0.04409	-0.135000	0.12811	0.002000	0.15269	0.000000	0.08366	0.993000	0.69303	0.2563:0.0:0.7437:0.0	12.709	0.56447	728	0.54609	C2 domain|Synaptotagmin 7, C2B 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	.	.	.	.	.	.	.	.	0.05	628.43	33	chr11	61518675	.	A	C	628.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.168;DP=392;ExcessHet=0;FS=2.062;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=0.359;SOR=1.068	GT:AD:DP:GQ:PL	0/1:43,28:71:99:640,0,1115	9	0	1	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	4287.03	85	chr11	61740531	.	T	C	4287.03	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.113;DP=1125;ExcessHet=22.563;FS=268.204;InbreedingCoeff=-0.9992;MLEAC=10;MLEAF=0.5;MQ=59.99;MQRankSum=0;QD=3.99;ReadPosRankSum=1.35;SOR=10.248	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,45:146:99:.:.:650,0,1712:.	0	0	10	0
chr11	62528229	62528229	G	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C6188G:p.A2063G,AHNAK:NM_001346446:exon5:c.C6188G:p.A2063G,AHNAK:NM_001620:exon5:c.C6188G:p.A2063G	.	423	1098	0	1	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0118448917026	.	0.000199681	0.0002	9.61e-05	8.637e-05	0	0.0005	0.0003	0	0	7.68e-05	2	26028	rs1298917	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	8.961e-05	2.236e-05	3.826e-05	0	0.0002	0	0.0002	0.0001	0	0.0002	0.0002	0.0001	0.0002	0.0003	0.0001	9.726e-05	0.0002	0.0001	9.663e-05	0	0.0001	0	0	0.0002	0	0.0003	0	0	0.118	0.28148	T	0.616	0.07543	T	0.0	0.02946	B	0.0	0.01387	B	0.226668	0.03491	N	1.973070	1	0.81001	D	-1.34	0.00672	N	3.44	0.05375	T	-0.03	0.07444	N	0.048	0.01999	-0.9495	0.41058	T	0.010	0.03811	T	10	0.010202795	0.00228	T	0.011845	0.29861	T	0.075	0.21907	.	.	0.246215685461	0.24236	0.0074707861963447105	0.00713	0.0258209435056	0.02637	0.209241390228	0.00779	T	0.043483	0.26515	T	-0.558365	0.00260	T	-0.733852	0.04155	T	0.0208310580289219	0.00783	T	0.50295	0.15803	T	0.016508656	0.00203	0.03706153	0.03281	0.016508656	0.00203	0.03706153	0.03281	-2.351	0.04841	T	.	.	0.059	0.00861	B	.	.	-1.516341	0.00285	0.005	0.91951758749090184	0.21279	0.05031	0.10815	N	AEFBI	.	.	.	-0.953677044679823	0.09610	0.455584	-0.837314421466742	0.13593	0.7059716	0.144770258174769	0.17338	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.05	2.12	0.26372	-2.569000	0.00990	.	.	-1.097000	0.01519	0.000000	0.06391	0.000000	0.08366	0.598000	0.31338	0.1214:0.3167:0.5619:0.0	9.659	0.39109	259	0.89842	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	4638.43	149	chr11	62528229	.	G	C	4638.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.5;DP=1072;ExcessHet=0;FS=1.095;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.59;MQRankSum=-5.569;QD=11.4;ReadPosRankSum=0.045;SOR=0.771	GT:AD:DP:GQ:PL	0/1:217,190:407:99:4650,0,5741	9	0	1	0
chr11	66057350	66057350	C	T	exonic	SF3B2	.	nonsynonymous SNV	SF3B2:NM_006842:exon7:c.C752T:p.P251L	.	429	1089	3	1	0	5	0.00229043	.	.	.	2343773	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.122	0.0140342214616	0.0008	0.000599042	0.0006	0.0001	8.693e-05	0	0.0002	0.0010	0.0023	0.0004	0.0006209	96	154602	rs77713633	0.0010	0.0010	0.0009	0.0010	0.0012	0.0009	0.0009	0.0012	0.0011	3.135e-05	0.0001	0	0	0.0002	0.0007	0.0012	0.0005	0.0003	0.0005	0.0005	0.0005	0.0005	0.0010	0.0004	0.0004	0.0008	0.0008	2.407e-05	0	0.0003	0	0	9.416e-05	0	0.0010	0.0005	0.0004	0.002	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.001	0.04355	B	0.000001	0.62929	N	0.100915	0.999999	0.58761	D	1.955	0.52871	M	.	.	.	-2.85	0.82063	D	0.372	0.42443	-0.9836	0.34164	T	0.112	0.40168	T	9	0.026429206	0.00809	T	0.014034	0.33868	T	0.122	0.33800	.	.	0.200294437569	0.19612	0.46770466573389025	0.46689	1.3404268339	0.83837	0.828810095787	0.86381	D	0.067276	0.70570	T	-0.345679	0.05005	T	-0.309854	0.43674	T	0.0796342304410416	0.09939	T	0.862114	0.58386	D	0.17338952	0.38084	0.19508399	0.43167	0.17338952	0.38083	0.19508399	0.43166	-4.634	0.32596	T	.	.	0.258	0.72128	B	.;.;.;.;.	.;.;.;.;.	3.534010	0.49602	22.8	0.96499044590636562	0.30037	0.95561	0.65212	D	AEFBI	0.253269	0.37280	N	-0.313809196513544	0.28622	1.580285	-0.188496459163862	0.31958	1.813531	0.999880827385902	0.44867	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.27	4.35	0.51454	3.228000	0.50971	3.965000	0.40779	0.599000	0.40250	0.981000	0.35396	0.999000	0.35428	0.972000	0.54974	0.1708:0.7406:0.0:0.0886	7.053	0.24260	199	0.92292	.;.;.;.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	763.43	35	chr11	66057350	.	C	T	763.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.27;DP=385;ExcessHet=0;FS=3.234;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.46;ReadPosRankSum=1.39;SOR=1.121	GT:AD:DP:GQ:PL	0/1:40,33:73:99:775,0,892	9	0	1	0
chr11	66976204	66976204	G	A	exonic	C11orf86	.	nonsynonymous SNV	C11orf86:NM_001136485:exon2:c.G301A:p.V101I,C11orf86:NM_001353554:exon2:c.G304A:p.V102I	.	420	1099	2	1	0	4	0.00181653	.	.	.	2400241	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.013	.	0.0009	0.000798722	0.0011	0.0005	0	0	0.0294	0.0022	0	0.0001	0.0002975	46	154602	rs200669310	0.0009	0.0009	0.0009	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	9.494e-05	0.0003	0.0003	0	0.0006	0.0004	0.0011	0.0006	0.0002	0.0008	0.0008	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	9.621e-05	0	0.0008	0	0	0.0008	0	0.0013	0.0009	0.0004	0.0	0.91255	D	0.0	0.92824	D	0.291	0.32334	B	0.072	0.28043	B	0.020364	0.27054	N	0.258879	0.999501	0.21084	N	1.1	0.28011	L	.	.	.	-0.78	0.21644	N	0.145	0.14622	-1.0266	0.21560	T	0.068	0.27947	T	9	0.003779322	0.00070	T	.	.	.	0.013	0.01715	.	.	0.0297737177859	0.01360	0.08614489887970707	0.08548	.	.	.	.	.	0.035741	0.23835	T	-0.526506	0.00403	T	-0.54808	0.17509	T	0.0604031363087865	0.07232	T	0.547445	0.18775	T	0.18834317	0.40329	0.24967097	0.50543	0.18834317	0.40329	0.24967097	0.50542	-4.382	0.29312	T	.	.	0.132	0.28406	B	.	.	2.281068	0.29170	18.04	0.99775144762219969	0.86260	0.44613	0.27357	N	ALL	0.052334	0.09330	N	-0.495919826530754	0.22214	1.184555	-0.500042575679862	0.22152	1.201853	0.999999999947902	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.440796	0.06475	0	0.636	0.56748	0	.	.	4.36	2.46	0.29032	1.215000	0.32035	3.690000	0.39494	0.661000	0.55757	0.838000	0.30254	1.000000	0.68203	0.096000	0.18090	0.219:0.0:0.781:0.0	6.710	0.22458	169	0.93437	.	.	.	.	.	.	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	0.002304	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	768.43	33	chr11	66976204	.	G	A	768.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.099;DP=386;ExcessHet=0;FS=1.786;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=1.23;SOR=0.908	GT:AD:DP:GQ:PL	0/1:47,36:83:99:780,0,1167	9	0	1	0
chr11	68710994	68710994	T	C	exonic	TESMIN	.	nonsynonymous SNV	TESMIN:NM_004923:exon9:c.A1214G:p.E405G	.	430	1082	8	2	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0176554862813	0.0012	0.000599042	0.0009	0.0002	0.0011	0	0	0.0012	0.0044	0.0006	0.0008473	131	154602	rs142546011	0.0007	0.0007	0.0007	0.0007	0.0035	0.0007	0.0007	0.0023	0.0019	0.0001	0.0015	0.0007	0	9.36e-05	0.0035	0.0007	0.0009	0.0006	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	9.62e-05	0	0.0009	0	0	9.411e-05	0.0136	0.0011	0.0024	0.0004	0.069	0.35537	T	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000002	0.62929	D	0.000000	0.999329	0.46670	D	1.91	0.51138	L	1.34	0.34841	T	-6.15	0.90178	D	0.372	0.41360	-0.9811	0.34748	T	0.155	0.48653	T	10	0.061744153	0.07788	T	0.017655	0.39446	T	0.254	0.56428	.	.	0.648488047482	0.64556	0.4429605405053909	0.44213	0.701817640495	0.61187	0.457322955132	0.32943	T	0.169368	0.51672	T	-0.336714	0.05620	T	-0.286522	0.46132	T	0.0992458674830501	0.12274	T	0.975102	0.91204	D	0.50331503	0.67289	0.5226219	0.72420	0.50331503	0.67290	0.5226219	0.72420	-9.935	0.73522	D	.	.	0.213	0.44108	B	.	.	4.350618	0.66821	25.0	0.99871826067089153	0.94902	0.96849	0.71272	D	AEFBI	0.727118	0.67556	D	0.50917805574692	0.67631	5.10743	0.526738492434318	0.69796	5.411642	0.999999454663143	0.74766	0.643511	0.44296	0	0.59043	0.45803	0	0.688494	0.62686	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	5.875000	0.69407	4.015000	0.41197	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.311	0.65971	809	0.43032	CRC domain|Tesmin/TSO1-like CXC 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	0.005035	0.000000	0.005435	0.000000	0.050000	0.000000	0.006098	0.011364	0.05	1202.43	39	chr11	68710994	.	T	C	1202.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.371;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=0.29;SOR=0.715	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1214,0,979	9	0	1	0
chr11	71464114	71464114	C	T	exonic	NADSYN1	.	nonsynonymous SNV	NADSYN1:NM_018161:exon5:c.C379T:p.R127C	.	424	1096	2	0	0	2	0.000911577	.	.	YES	2334034	Inborn_genetic_diseases|Vertebral,_cardiac,_renal,_and_limb_defects_syndrome_3	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0030077,MedGen:C5394250,OMIM:618845	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.810	0.428217167014	0.0002	0.000399361	0.0002	0.0003	0	0	0	0.0002	0	0.0006	0.0001488	23	154602	rs201096943	9.936e-05	0.0001	7.496e-05	0.0001	0.0014	8.593e-05	8.061e-05	0.0007	0.0006	5.978e-05	2.248e-05	0	0	0	0.0014	5.85e-05	1.658e-05	0.0008	6.564e-05	6.561e-05	7.707e-05	5.369e-05	0.0002	3.513e-05	2.614e-05	4.726e-05	3.044e-05	0.0001	0	0	0	0	0	0	4.41e-05	0.0005	0.0002	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.064437	1	0.81001	D	4.2	0.97819	H	-2.37	0.88220	D	-7.66	0.95511	D	0.984	0.99337	1.037	0.97843	D	0.887	0.96245	D	10	0.93220305	0.92556	D	0.428217	0.93930	D	0.810	0.93854	.	.	0.971196106428	0.97088	0.9500477620788291	0.94987	0.824320894434	0.67312	0.702453434467	0.67498	T	0.439921	0.78502	T	0.200691	0.73958	D	0.409084	0.92404	D	0.993123471736908	0.83805	D	0.998579	0.99241	D	0.9287986	0.94117	0.8242516	0.89812	0.9287986	0.94118	0.8242516	0.89812	-9.922	0.73443	D	0.9010487672091724	0.95249	0.242	0.47665	B	.	.	5.194379	0.87129	29.1	0.99928950537951367	0.99279	0.94326	0.60810	D	AEFDGBI	0.756877	0.69600	D	0.765233528529102	0.83892	8.138265	0.603363487408943	0.75183	6.265837	0.999999986815942	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.95	4.95	0.64894	3.757000	0.54924	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.814000	0.38357	0.0:1.0:0.0:0.0	15.688	0.77182	636	0.64483	Carbon-nitrogen hydrolase|Carbon-nitrogen hydrolase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000505	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1475.43	33	chr11	71464114	.	C	T	1475.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.617;DP=400;ExcessHet=0;FS=0.791;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=-1.12;SOR=0.865	GT:AD:DP:GQ:PL	0/1:36,61:97:99:1487,0,709	9	0	1	0
chr11	72136070	72136070	G	A	exonic	FOLR3	.	nonsynonymous SNV	FOLR3:NM_000804:exon2:c.G118A:p.A40T	.	245	1276	0	1	0	2	0.000783085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.021060005595	.	0.00179712	0.0002	0.0026	0	0	0	0	0	6.056e-05	0.0003458	9	26028	rs576868891	2.463e-05	8.209e-05	3.268e-05	1.651e-05	0.0002	1.803e-05	1.601e-05	7.857e-05	5.334e-05	0.0002	8.948e-05	0	0	0	0	2.069e-05	3.313e-05	1.159e-05	5.911e-05	9.844e-05	7.711e-05	4.029e-05	0.0002	3.076e-05	2.209e-05	7.879e-05	5.58e-05	0.0002	0	0	0	0	0	0	2.94e-05	0	0	0.077	0.34095	T	0.133	0.37310	T	.	.	.	.	.	.	0.005443	0.32788	U	0.186618	0.542498	0.31596	N	.	.	.	0.33	0.58323	T	-3.4	0.67014	D	0.192	0.21188	-0.4954	0.68815	T	0.294	0.66536	T	9	0.013901025	0.00293	T	0.02106	0.43768	T	0.178	0.44724	.	.	0.696644649877	0.69402	0.5062872070973268	0.50550	.	.	0.353753149509	0.18473	T	0.241689	0.61027	T	-0.0781434	0.40017	T	-0.350024	0.39203	T	0.454821854829788	0.30974	T	0.768423	0.40135	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.49528	B	.;.;.;.	.;.;.;.	1.625092	0.20752	14.89	0.99717372481915412	0.81773	0.62165	0.31699	D	AEFDGBHCI	0.125624	0.24221	N	-0.359697741943541	0.26918	1.472826	-0.480492004015412	0.22692	1.233763	0.999996881911163	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	3.79	0.692	0.17213	2.049000	0.40912	0.028000	0.13690	0.347000	0.19874	0.963000	0.33788	0.000000	0.08366	0.054000	0.15518	0.2895:0.0:0.7105:0.0	8.069	0.29841	609	0.67094	Folate receptor-like;Folate receptor-like;Folate receptor-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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	2503.43	34	chr11	72136070	.	G	A	2503.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.701;DP=560;ExcessHet=0;FS=2.257;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.13;ReadPosRankSum=0.172;SOR=0.621	GT:AD:DP:GQ:PL	0/1:115,110:225:99:2515,0,2651	9	0	1	0
chr11	73409529	73409529	C	T	exonic	FAM168A	.	nonsynonymous SNV	FAM168A:NM_015159:exon6:c.G553A:p.A185T,FAM168A:NM_001286050:exon7:c.G580A:p.A194T	.	432	1086	4	0	0	4	0.00183824	.	.	.	2334335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.198	0.00560266247626	.	.	0.0001	0	0	0	0	0.0001	0	0.0004	0.0001035	16	154602	rs749363209	9.646e-05	9.645e-05	8.713e-05	0.0001	0.0003	8.31e-05	7.85e-05	0.0003	0.0002	2.988e-05	0	0.0023	0	0	0.0003	2.968e-05	0.0002	0.0003	5.256e-05	5.253e-05	5.138e-05	5.379e-05	0.0002	2.557e-05	1.83e-05	.	.	0	0	0	0.0017	0	0	0	1.47e-05	0	0.0002	0.995	0.01946	T	0.47	0.12246	T	0.004	0.12183	B	0.005	0.11217	B	0.000005	0.62929	N	0.141280	1	0.81001	D	0.765	0.19305	N	.	.	.	-0.31	0.12099	N	0.27	0.42443	-1.0537	0.13386	T	0.089	0.34325	T	9	0.026479363	0.00813	T	0.005603	0.14469	T	0.198	0.48105	.	.	0.268702046668	0.26493	0.5218479527415555	0.52107	0.51941192357	0.49764	0.715816557407	0.69437	T	0.032444	0.22488	T	-0.208695	0.19564	T	-0.231575	0.51619	T	0.022542392393728	0.00970	T	0.771423	0.40183	T	0.052433547	0.09778	0.09502031	0.22517	0.052433547	0.09777	0.09502031	0.22516	-7.85	0.60043	D	.	.	0.095	0.14933	B	.;.	.;.	3.364205	0.46455	22.3	0.8461286267775262	0.15394	0.89595	0.50160	D	AEFDBI	0.213674	0.33923	N	-0.447722367528812	0.23817	1.281727	-0.226560136498318	0.30588	1.723555	0.999999044335715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.59	3.71	0.41733	1.626000	0.36650	4.877000	0.45627	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.8472:0.0:0.1528	10.694	0.45083	389	0.83303	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	2356.43	38	chr11	73409529	.	C	T	2356.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.631;DP=536;ExcessHet=0;FS=3.035;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.96;ReadPosRankSum=0.096;SOR=0.895	GT:AD:DP:GQ:PL	0/1:115,100:215:99:2368,0,2927	9	0	1	0
chr11	73873324	73873324	C	T	exonic	COA4	.	nonsynonymous SNV	COA4:NM_016565:exon2:c.G55A:p.D19N	.	428	1075	18	1	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.00690841429181	0.0028	0.00159744	0.0025	0.0006	0.0029	0	0.0014	0.0035	0.0011	0.0015	0.0026132	404	154602	rs35586999	0.0028	0.0028	0.0028	0.0028	0.0128	0.0027	0.0027	0.0105	0.0096	0.0007	0.0030	0.0098	0	0.0008	0.0128	0.0029	0.0031	0.0018	0.0024	0.0024	0.0024	0.0024	0.0042	0.0022	0.0021	0.0034	0.0031	0.0006	0	0.0042	0.0101	0.0002	0.0007	0.0068	0.0031	0.0052	0.0017	0.128	0.32769	T	0.117	0.39799	T	0.009	0.15093	B	0.002	0.06944	B	0.000881	0.41335	N	0.265322	0.864169	0.36476	D	.	.	.	.	.	.	-1.23	0.31170	N	0.047	0.06454	-0.8626	0.51075	T	0.109	0.39462	T	8	0.0034405887	0.00060	T	0.006908	0.18289	T	0.095	0.27398	.	.	0.126345400529	0.12197	0.20150996363262594	0.20067	0.147553722953	0.16648	0.292893588543	0.09346	T	0.095396	0.39612	T	-0.620685	0.00109	T	-0.665504	0.07899	T	0.00855524906830741	0.00104	T	0.724828	0.33863	T	0.032360557	0.03247	0.039785765	0.04151	0.032360557	0.03247	0.039785765	0.04150	-6.736	0.55875	T	.	.	0.074	0.08368	B	.;.;.;.	.;.;.;.	2.957050	0.39368	20.9	0.99162612910782988	0.54155	0.86920	0.46311	D	AEFBCI	0.520474	0.54532	D	-0.261633926331057	0.30642	1.710448	-0.17794341175471	0.32349	1.839553	0.9999999997971	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.35	4.44	0.53164	3.426000	0.52545	2.177000	0.31099	0.596000	0.33519	0.960000	0.33603	0.034000	0.21380	0.457000	0.28051	0.0:0.918:0.0:0.082	12.270	0.54017	226	0.91233	.;.;.;.	.	.	.	.	.	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	0.006546	0.000000	0.012228	0.011696	0.000000	0.008621	0.000000	0.000000	0.05	1363.43	36	chr11	73873324	.	C	T	1363.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.937;DP=440;ExcessHet=0;FS=1.481;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=-0.621;SOR=0.531	GT:AD:DP:GQ:PL	0/1:65,56:121:99:1375,0,1528	9	0	1	0
chr11	76351476	76351476	T	A	exonic	THAP12	.	nonsynonymous SNV	THAP12:NM_004705:exon5:c.A1674T:p.R558S	.	440	1078	4	0	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0020797152855	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1157005460	4.711e-05	0.0002	3.887e-05	5.556e-05	0.0006	3.763e-05	3.44e-05	0.0004	0.0004	0.0002	0.0006	0	0.0001	0	0	7.331e-06	6.843e-05	0.0003	1.317e-05	0.0001	2.574e-05	0	4.853e-05	2.19e-06	8.2e-07	8.04e-06	3.01e-06	4.853e-05	0	0	0	0	0	0	0	0	0	0.017	0.51248	D	0.025	0.56192	D	0.594	0.39171	P	0.295	0.40843	B	0.000000	0.84330	D	0.044915	0.996463	0.43220	D	2.515	0.73286	M	.	.	.	-1.46	0.35792	N	0.504	0.53620	-0.9883	0.33027	T	0.146	0.47021	T	9	0.34897023	0.51800	T	0.00208	0.03828	T	0.170	0.43303	0.478	0.55663	0.322284741503	0.31843	0.4873270953668649	0.48652	1.60633318965	0.88804	0.476609885693	0.35591	T	0.165633	0.51156	T	0.159633	0.70166	D	-0.00847424	0.69783	D	0.614909768104553	0.36998	D	0.710429	0.32156	T	0.33767474	0.56093	0.19393219	0.42989	0.33767474	0.56093	0.19393219	0.42988	-5.566	0.42481	T	.	.	0.356	0.56952	A	.	.	2.527946	0.32681	19.11	0.97410423660631529	0.33820	0.18562	0.20311	N	AEFI	0.177388	0.30462	N	-0.383128005019837	0.26069	1.419998	-0.418795209424784	0.24446	1.338668	6.54037488188343E-5	0.04366	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.98	-0.74	0.10555	0.067000	0.14378	0.589000	0.19801	0.641000	0.52212	0.945000	0.32849	0.996000	0.32793	0.997000	0.79791	0.0:0.5882:0.0:0.4118	9.968	0.40907	829	0.39537	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	30.43	34	chr11	76351476	.	T	A	30.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.184;DP=386;ExcessHet=0;FS=3.315;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=49.58;MQRankSum=-5.41;QD=0.43;ReadPosRankSum=-3.139;SOR=1.321	GT:AD:DP:GQ:PL	0/1:63,8:71:42:42,0,1759	9	0	1	0
chr11	94447222	94447222	T	C	exonic	MRE11	.	nonsynonymous SNV	MRE11:NM_001330347:exon15:c.A1780G:p.R594G,MRE11:NM_005590:exon15:c.A1780G:p.R594G,MRE11:NM_005591:exon15:c.A1780G:p.R594G	Ataxia-telangiectasia-like disorder, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	151258	Ataxia-telangiectasia-like_disorder_1|Ataxia-telangiectasia-like_disorder|not_specified|Hereditary_breast_ovarian_cancer_syndrome|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391|MedGen:CN169374|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.292	.	.	0.00299521	0.0013	9.614e-05	8.637e-05	0	0	1.498e-05	0	0.0095	0.001216	188	154602	rs576878377	0.0005	0.0005	0.0003	0.0007	0.0084	0.0005	0.0005	0.0079	0.0077	2.988e-05	0	0	0	0	0.0016	1.799e-06	0.0008	0.0084	0.0004	0.0004	0.0002	0.0006	0.0112	0.0003	0.0003	0.0088	0.0080	0	0	0	0	0	0	0	0	0	0.0112	0.162	0.63226	T	0.05	0.48080	T	0.963	0.55692	D	0.491	0.47360	P	0.000067	0.52346	D	0.167211	0.999904	0.50806	D	2.47	0.71715	M	-0.92	0.75215	T	-1.94	0.45042	N	0.422	0.46742	-0.5593	0.66430	T	0.356	0.71850	T	10	0.004068464	0.00154	T	.	.	.	0.292	0.61157	0.368	0.37687	0.758571294925	0.75638	0.6455945510550499	0.64494	0.108866262484	0.12275	0.444576978683	0.31202	T	0.253451	0.62397	T	-0.283173	0.10335	T	-0.173279	0.57142	T	0.0699206025124716	0.08640	T	0.781822	0.41691	T	0.09194721	0.21558	0.0976069	0.23239	0.10864615	0.25689	0.09614296	0.22832	-4.36	0.29285	T	.	.	0.151	0.39647	B	.;.;.;.	.;.;.;.	2.503021	0.32310	19.00	0.99694068704243044	0.80112	0.73739	0.36068	D	AEFBI	0.181009	0.30832	N	-0.0629755864879579	0.39025	2.29482	-0.0492299148539413	0.37524	2.198205	0.0968549478886286	0.16264	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.08	0.737	0.17463	1.079000	0.30378	1.191000	0.24766	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.0:0.064:0.4298:0.5061	9.489	0.38113	897	0.25382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05	460.43	33	chr11	94447222	.	T	C	460.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.76;DP=341;ExcessHet=0;FS=8.845;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.12;ReadPosRankSum=-0.79;SOR=0.091	GT:AD:DP:GQ:PL	0/1:18,20:38:99:472,0,580	9	0	1	0
chr11	94853952	94853952	A	C	exonic	AMOTL1	.	nonsynonymous SNV	AMOTL1:NM_001301007:exon7:c.A1664C:p.Y555S,AMOTL1:NM_130847:exon8:c.A1814C:p.Y605S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481	0.0213497206976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.99	0.64070	D	0.972	0.74104	D	0.000010	0.62929	D	0.000000	1	0.81001	D	2.61	0.76335	M	1.82	0.25018	T	-8.07	0.96635	D	0.844	0.84817	-0.8020	0.55026	T	0.169	0.50890	T	10	0.77672243	0.77520	D	0.02135	0.44105	T	0.481	0.77142	0.198	0.11110	0.453867917445	0.45007	0.7960469722273764	0.79557	0.932263926279	0.71875	0.734765827656	0.72203	T	0.466575	0.80126	T	0.245038	0.78135	D	0.114204	0.77850	D	0.997479498386383	0.91644	D	0.973903	0.90628	D	0.8209568	0.85284	0.82217276	0.89679	0.8209568	0.85286	0.82217276	0.89679	-8.398	0.63752	D	.	.	0.343	0.65047	A	.;.	.;.	4.874062	0.79872	27.2	0.98055753209393859	0.37905	0.99804	0.99578	D	AEFBI	0.889353	0.82334	D	0.609686964119477	0.73786	6.023462	0.505217986306405	0.68340	5.206691	0.999999998100186	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.91	4.91	0.63897	8.987000	0.93058	11.159000	0.87591	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.132000	0.19645	1.0:0.0:0.0:0.0	14.842	0.69865	889	0.27310	.;Angiomotin, C-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1384.43	34	chr11	94853952	.	A	C	1384.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.12;DP=413;ExcessHet=0;FS=3.879;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.533;SOR=1.135	GT:AD:DP:GQ:PL	0/1:41,56:97:99:1396,0,835	9	0	1	0
chr11	101127464	101127464	T	G	exonic	PGR	.	nonsynonymous SNV	PGR:NM_000926:exon1:c.A1607C:p.Q536P,PGR:NM_001202474:exon1:c.A1115C:p.Q372P,PGR:NM_001271161:exon1:c.A1115C:p.Q372P	.	0	1519	3	0	0	3	0.000986518	.	.	.	724155	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.043	.	0.0031	0.00858626	0.0036	0.0567	0.0048	0	0	0.0001	0	0.0001	0.0010931	169	154602	rs11571152	0.0005	0.0005	0.0006	0.0005	0.0175	0.0005	0.0005	0.0163	0.0158	0.0175	0.0013	0	0	0	0.0012	4.411e-05	0.0019	9.991e-05	0.0047	0.0047	0.0048	0.0045	0.0159	0.0044	0.0043	0.0149	0.0145	0.0159	0	0.0028	0	0	0	0	7.358e-05	0.0019	0	0.092	0.38863	T	0.253	0.27679	T	0.055	0.22733	B	0.026	0.20792	B	0.716625	0.09970	N	0.773349	0.967196	0.81001	D	1.5	0.37844	L	2.95	0.09635	T	-1.61	0.40660	N	0.246	0.36148	-1.0455	0.15680	T	0.017	0.06950	T	10	0.0048434734	0.00103	T	.	.	.	0.043	0.11576	.	.	0.399796912067	0.39594	0.5782030882205793	0.57749	.	.	0.718276500702	0.69795	T	0.110623	0.42546	T	-0.532922	0.00369	T	-0.524002	0.19890	T	0.020587926921167	0.00759	T	0.70223	0.32446	T	0.35324353	0.57318	0.37499183	0.62653	0.35324353	0.57318	0.37499183	0.62652	-3.504	0.24460	T	.	.	0.064	0.08224	B	.;.;.;.	.;.;.;.	2.191271	0.27940	17.63	0.9358195746043747	0.23430	0.76269	0.37393	D	AEFDBHCIJ	0.182000	0.30932	N	-0.655192677972204	0.17309	0.8895835	-0.544082436977531	0.20963	1.131827	0.999996945565946	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.03	2.87	0.32523	0.863000	0.27567	1.855000	0.29283	-0.279000	0.06446	1.000000	0.71638	1.000000	0.68203	0.783000	0.37026	0.0:0.0:0.3506:0.6493	9.327	0.37159	893	0.26510	.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.002709	0.011494	0.001374	0.000000	0.000000	0.018182	0.000000	0.000000	0.05	386.43	33	chr11	101127464	.	T	G	386.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.637;DP=354;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=-0.048;SOR=0.683	GT:AD:DP:GQ:PL	0/1:17,19:36:99:398,0,401	9	0	1	0
chr11	102871809	102871809	C	T	exonic	MMP12	.	nonsynonymous SNV	MMP12:NM_002426:exon3:c.G494A:p.R165H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.00119808	0.0004	0.0040	0.0002	0	0	0	0	0.0001	0.0003105	48	154602	rs61730845	0.0001	0.0001	0.0001	0.0001	0.0039	0.0001	0.0001	0.0033	0.0031	0.0039	0.0004	0	0	0	0	1.71e-05	0.0003	0.0002	0.0011	0.0011	0.0012	0.0010	0.0039	0.0010	0.0009	0.0034	0.0032	0.0039	0	0.0004	0	0	0	0	2.94e-05	0.0005	0	.	.	.	0.518	0.10536	T	0.018	0.17786	B	0.002	0.06944	B	.	.	.	.	.	.	.	.	.	.	0.55	0.54728	T	.	.	.	0.107	0.09207	.	.	.	.	.	.	.	0.0066146255	0.00150	T	.	.	.	.	.	.	.	0.500994481783	0.49735	0.5039522868909695	0.50317	.	.	0.201184004545	0.00492	T	0.100561	0.40647	T	-0.488127	0.00666	T	-0.474457	0.25037	T	.	.	.	0.744226	0.36418	T	0.10593887	0.25049	0.11957267	0.28860	0.10593887	0.25049	0.11957267	0.28859	-6.126	0.47322	T	.	.	0.089	0.12037	B	.	.	-0.775123	0.01156	0.055	0.36164242022524651	0.02311	0.04719	0.10413	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.896948939006969	0.25990	0.06567	0.01388	0	0.063388	0.01293	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0554835	0.12919	5.31	-10.6	0.00212	-0.989000	0.03846	-3.145000	0.03023	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1483:0.3609:0.2987:0.192	2.873	0.05276	732	0.54084	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1751.43	33	chr11	102871809	.	C	T	1751.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.064;DP=479;ExcessHet=0;FS=2.761;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.81;ReadPosRankSum=-1.671;SOR=0.682	GT:AD:DP:GQ:PL	0/1:84,78:162:99:1763,0,1900	9	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T,MSANTD4:NM_001318748:exon2:c.G259A:p.A87T,MSANTD4:NM_001318749:exon2:c.G259A:p.A87T,MSANTD4:NM_001318750:exon2:c.G259A:p.A87T,MSANTD4:NM_032424:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.0031863420769	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.25457	T	0.456	0.54934	T	0.002	0.09854	B	0.003	0.08700	B	0.000011	0.62929	D	0.111292	0.991109	0.41309	D	0.55	0.14455	N	.	.	.	-1.05	0.27463	N	0.139	0.13769	-0.8825	0.49561	T	0.177	0.52240	T	9	0.14178061	0.26937	T	0.003186	0.06966	T	0.144	0.38394	0.324	0.30549	0.333651784274	0.32972	0.3745214875372276	0.37366	0.306637953789	0.32968	0.538885176182	0.44288	T	0.040073	0.25406	T	-0.0969372	0.36933	T	-0.37702	0.36071	T	0.432566970586777	0.30156	T	0.762724	0.38847	T	0.054357305	0.10418	0.07319845	0.15878	0.054357305	0.10417	0.07319845	0.15878	-3.821	0.21119	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	3.124977	0.42209	21.5	0.99583064835214086	0.73099	0.90270	0.51314	D	AEFGBI	0.218300	0.34332	N	-0.0132163549372124	0.41258	2.464544	0.177121742542613	0.48595	3.073425	0.999902434550218	0.45458	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	5.88	0.94564	1.369000	0.33832	4.008000	0.41136	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.145:0.7831:0.0:0.0719	9.319	0.37114	725	0.54935	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3125	4213.63	178	chr11	106010659	.	C	T	4213.63	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-4.629;DP=1435;ExcessHet=7.0302;FS=291.532;InbreedingCoeff=-0.6439;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=3.87;ReadPosRankSum=3.04;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,27:167:99:.:.:205,0,3912:.	3	0	5	2
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	4930.37	202	chr11	106010660	.	C	G	4930.37	.	AC=7;AF=0.5;AN=14;BaseQRankSum=-3.122;DP=1478;ExcessHet=7.0302;FS=301.82;InbreedingCoeff=-0.7391;MLEAC=8;MLEAF=0.571;MQ=60;MQRankSum=0;QD=4.41;ReadPosRankSum=3.03;SOR=11.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:133,35:168:99:.:.:269,0,3909:.	0	0	7	3
chr11	108715890	108715890	A	G	exonic	DDX10	.	nonsynonymous SNV	DDX10:NM_004398:exon11:c.A1334G:p.E445G	.	534	986	2	0	0	2	0.00101317	.	.	.	215421	not_specified|not_provided|DDX10-related_disorder	MedGen:CN169374|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.222	0.0136446042008	0.0043	0.00199681	0.0060	0.0014	0.0013	0.0003	0.0079	0.0097	0.0028	0.0026	0.0048576	751	154602	rs116953461	0.0063	0.0067	0.0065	0.0060	0.0073	0.0061	0.0061	0.0071	0.0071	0.0007	0.0009	0.0022	2.557e-05	0.0071	0.0006	0.0073	0.0067	0.0022	0.0046	0.0046	0.0047	0.0045	0.0077	0.0043	0.0042	0.0071	0.0069	0.0015	0	0.0016	0.0012	0	0.0070	0	0.0077	0.0033	0.0021	0.09	0.33254	T	0.135	0.34124	T	0.893	0.49136	P	0.519	0.48163	P	0.000000	0.84330	D	0.046608	1	0.81001	D	1.075	0.27130	L	0.84	0.47815	T	-2.94	0.61435	D	0.58	0.60156	-0.9914	0.32244	T	0.085	0.33128	T	10	0.009814739	0.00220	T	0.013645	0.33196	T	0.222	0.51872	.	.	0.697842544054	0.69523	0.5360272708346319	0.53527	0.396460530171	0.40758	0.546004831791	0.45294	T	0.17071	0.51855	T	-0.254464	0.13557	T	-0.130334	0.60943	T	0.0195243030619192	0.00656	T	0.860314	0.56163	D	0.24206862	0.47130	0.31917617	0.57880	0.24206862	0.47130	0.31917617	0.57880	-9.565	0.71263	D	.	.	0.116	0.23675	B	.;.	.;.	4.675633	0.74771	26.2	0.9984509261642095	0.92489	0.98927	0.88737	D	AEFGBI	0.644628	0.62082	D	0.422597093967227	0.62666	4.486403	0.539148629236526	0.70646	5.53586	0.999995621760092	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.04	6.04	0.98025	6.424000	0.73282	11.021000	0.84957	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	16.245	0.82265	697	0.58201	Helicase, C-terminal;Helicase, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	189.43	33	chr11	108715890	.	A	G	189.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.692;DP=348;ExcessHet=0;FS=1.632;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.02;ReadPosRankSum=1.96;SOR=0.293	GT:AD:DP:GQ:PL	0/1:17,10:27:99:201,0,454	9	0	1	0
chr11	117192344	117192344	A	G	exonic	SIDT2	.	nonsynonymous SNV	SIDT2:NM_001040455:exon20:c.A1963G:p.M655V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.0110440648505	.	.	1.653e-05	0	0	0	0	1.506e-05	0	6.058e-05	1.29e-05	2	154602	rs746860374	2.781e-06	6.169e-06	2.771e-06	2.791e-06	2.331e-05	6.5e-07	4.4e-07	3.87e-06	1.45e-06	0	0	0	0	0	0	0	3.355e-05	2.331e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.049	0.48336	D	0.846	0.46778	P	0.842	0.60272	P	0.000000	0.84330	D	0.000000	0.999765	0.50061	D	2.43	0.70455	M	1.94	0.22678	T	-3.6	0.69357	D	0.614	0.63713	-1.0002	0.29860	T	0.119	0.41669	T	10	0.38507733	0.54480	T	0.011044	0.28250	T	0.171	0.43483	0.317	0.29419	0.30921473904	0.30521	0.7227928219749795	0.72223	0.788838983676	0.65662	0.600922644138	0.53034	T	0.085836	0.37590	T	-0.108501	0.35018	T	-0.296776	0.45064	T	0.960612714290619	0.65854	D	0.941306	0.78096	D	0.7889888	0.83210	0.7386845	0.84554	0.7889888	0.83211	0.7386845	0.84555	-7.302	0.56210	T	.	.	0.138	0.31956	B	.;.;.;.;.	.;.;.;.;.	4.609913	0.73095	25.9	0.99274474480000841	0.57661	0.85818	0.44994	D	AEFBCI	0.612591	0.60060	D	0.523746534626729	0.68498	5.225425	0.536948616031488	0.70497	5.513602	0.999967451564987	0.48965	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	4.31	0.50718	6.306000	0.72778	11.244000	0.90520	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.9225:0.0:0.0775:0.0	10.442	0.43655	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	.	.	.	.	.	.	.	.	0.05	1105.43	34	chr11	117192344	.	A	G	1105.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.568;DP=451;ExcessHet=0;FS=1.407;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.37;ReadPosRankSum=-0.375;SOR=0.872	GT:AD:DP:GQ:PL	0/1:78,54:132:99:1117,0,1868	9	0	1	0
chr11	119073289	119073289	G	A	exonic	VPS11	.	nonsynonymous SNV	VPS11:NM_001290185:exon6:c.G946A:p.V316I,VPS11:NM_001378218:exon6:c.G988A:p.V330I,VPS11:NM_001378219:exon6:c.G976A:p.V326I,VPS11:NM_001378220:exon6:c.G976A:p.V326I,VPS11:NM_001378221:exon6:c.G958A:p.V320I,VPS11:NM_021729:exon6:c.G976A:p.V326I	Leukodystrophy, hypomyelinating, 12, Autosomal recessive	426	1093	3	0	0	3	0.00137049	.	.	.	2415612	Hypomyelinating_leukodystrophy_12	MONDO:MONDO:0014732,MedGen:C4225247,OMIM:616683,Orphanet:466934	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	0.0178796306299	7.9e-05	.	4.238e-05	0	8.943e-05	0	0	6.123e-05	0	0	3.88e-05	6	154602	rs376381484	3.216e-05	3.215e-05	3.131e-05	3.301e-05	0.0005	2.478e-05	2.221e-05	0.0001	7.546e-05	0.0001	4.473e-05	0	0	0	0.0005	1.979e-05	0.0002	1.159e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	0.177	0.29740	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.063369185	0.08245	T	0.01788	0.39748	T	.	.	.	.	0.30921473904	0.30521	0.11080353352625819	0.11009	.	.	0.343970894814	0.17030	T	0.018137	0.14677	T	-0.349728	0.04744	T	-0.564289	0.15976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.04159	B	.;.	.;.	1.557905	0.19961	14.52	0.8597581680686267	0.16232	0.21319	0.21359	N	AEFDBI	0.078903	0.15928	N	.	.	.	.	.	.	0.532391348529885	0.21186	0.359288	0.05646	0	0.340432	0.05866	0	0.343423	0.05949	0	0.322829	0.05601	0	.	.	5.64	4.73	0.59485	0.644000	0.24455	1.105000	0.24105	-0.113000	0.14837	0.033000	0.20612	0.552000	0.25473	0.819000	0.38590	0.1463:0.0:0.8537:0.0	11.741	0.51059	231	0.90996	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1621.43	39	chr11	119073289	.	G	A	1621.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.69;DP=493;ExcessHet=0;FS=1.248;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.108;SOR=0.571	GT:AD:DP:GQ:PL	0/1:90,70:160:99:1633,0,2018	9	0	1	0
chr11	126017171	126017171	G	A	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon6:c.C845T:p.P282L,CDON:NM_001378964:exon6:c.C845T:p.P282L,CDON:NM_016952:exon6:c.C845T:p.P282L	Holoprosencephaly 11, Autosomal dominant, Isolated cases	0	1521	1	0	0	1	0.000328623	.	.	.	3293103	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.099	0.0208361796608	.	.	2.472e-05	0	8.654e-05	0	0	1.499e-05	0	6.058e-05	1.94e-05	3	154602	rs201323548	2.052e-05	2.052e-05	2.314e-05	1.788e-05	8.944e-05	1.456e-05	1.264e-05	2.985e-05	1.804e-05	2.987e-05	8.944e-05	0	2.519e-05	0	0	1.529e-05	3.312e-05	5.797e-05	2.627e-05	2.625e-05	1.285e-05	4.03e-05	2.407e-05	8.14e-06	5.14e-06	.	.	2.407e-05	0	0	0	0	9.43e-05	0	0	0.0009	0	0.126	0.27194	T	0.203	0.27503	T	0.122	0.26746	B	0.027	0.21085	B	0.001893	0.37740	N	0.120313	0.999988	0.18198	N	0.69	0.16971	N	-0.58	0.71425	T	-3.64	0.69835	D	0.18	0.19459	-0.9918	0.32141	T	0.173	0.51627	T	10	0.113428384	0.21309	T	0.020836	0.43511	T	0.099	0.28413	0.496	0.58520	0.650830185303	0.64793	0.6521839635036739	0.65154	0.103124469384	0.11663	0.337266504765	0.16029	T	0.416323	0.76931	T	-0.219942	0.18002	T	-0.356737	0.38430	T	0.0845714285969734	0.10561	T	0.714229	0.32652	T	0.061089486	0.12611	0.05664962	0.10158	0.061089486	0.12611	0.05664962	0.10158	-3.619	0.18132	T	0.12481030839808226	0.12307	0.237	0.47061	B	.;.	.;.	2.652077	0.34532	19.65	0.69643055777268725	0.09038	0.20715	0.21142	N	AEFBI	0.159244	0.28501	N	-0.924441699255041	0.10273	0.4900926	-0.90441079435426	0.11990	0.6141796	6.060656882533E-4	0.07437	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.668105	0.65232	0	.	.	5.06	3.17	0.35510	1.724000	0.37685	6.718000	0.56421	-0.106000	0.15538	0.019000	0.19563	1.000000	0.68203	0.052000	0.15357	0.1476:0.1356:0.7168:0.0	7.527	0.26832	859	0.33891	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	1444.43	36	chr11	126017171	.	G	A	1444.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.802;DP=432;ExcessHet=0;FS=0.684;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.04;ReadPosRankSum=0.63;SOR=0.824	GT:AD:DP:GQ:PL	0/1:59,61:120:99:1456,0,1306	9	0	1	0
chr11	126445065	126445065	C	T	exonic	KIRREL3	.	nonsynonymous SNV	KIRREL3:NM_001161707:exon10:c.G1166A:p.R389H,KIRREL3:NM_001301097:exon10:c.G1166A:p.R389H,KIRREL3:NM_032531:exon10:c.G1166A:p.R389H	Mental retardation, autosomal dominant 4	0	1515	7	0	0	7	0.00230491	.	.	.	373950	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.162	0.0128178865906	.	0.000399361	0.0008	0	0.0003	0	0.0002	0.0002	0	0.0048	0.0006662	103	154602	rs562824080	0.0004	0.0004	0.0003	0.0006	0.0047	0.0004	0.0004	0.0043	0.0042	8.961e-05	0.0002	0	0	0	0.0009	0.0002	0.0005	0.0047	0.0002	0.0002	0.0001	0.0004	0.0043	0.0002	0.0002	0.0029	0.0024	0.0001	0	6.532e-05	0	0	0	0	0.0001	0.0005	0.0043	0.133	0.28646	T	0.074	0.46182	T	1.0	0.90584	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	0.999354	0.46766	D	1.665	0.42610	L	1.55	0.29866	T	-1.78	0.42001	N	0.664	0.70527	-0.9420	0.42298	T	0.149	0.47628	T	10	0.0127593875	0.00273	T	0.012818	0.31723	T	0.162	0.41843	.	.	0.228066490088	0.22430	0.4689616031334942	0.46815	1.40417438636	0.85273	0.684793114662	0.64957	T	0.062236	0.31865	T	-0.414815	0.01847	T	-0.367538	0.37177	T	0.0481697862251268	0.05175	T	0.916908	0.70254	D	0.2983009	0.52752	0.2475887	0.50292	0.35695	0.57603	0.24496984	0.49974	-9.24	0.69229	D	.	.	0.099	0.18164	B	.;.;.	.;.;.	5.304687	0.89052	29.8	0.99950550725095433	0.99944	0.93341	0.57958	D	AEFBI	0.619801	0.60510	D	0.590058241183142	0.72555	5.823991	0.603661948312344	0.75206	6.269616	0.999867103023605	0.44398	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.26	5.26	0.73479	4.045000	0.57081	5.939000	0.51448	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.820	0.92059	963	0.08280	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	2625.14	33	chr11	126445065	.	C	T	2625.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.996;DP=567;ExcessHet=0.2348;FS=0.439;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.55;ReadPosRankSum=1.16;SOR=0.683	GT:AD:DP:GQ:PL	0/1:89,70:159:99:1425,0,1979	8	0	2	0
chr11	128839449	128839449	C	A	exonic	KCNJ1	.	nonsynonymous SNV	KCNJ1:NM_000220:exon2:c.G852T:p.E284D,KCNJ1:NM_153764:exon2:c.G795T:p.E265D,KCNJ1:NM_153765:exon3:c.G846T:p.E282D,KCNJ1:NM_153766:exon3:c.G795T:p.E265D,KCNJ1:NM_153767:exon4:c.G795T:p.E265D	Bartter syndrome, type 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.051931748374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.04629	T	0.783	0.04288	T	0.003	0.11197	B	0.01	0.14941	B	0.000000	0.84330	D	0.046212	0.967414	0.38592	D	-0.33	0.03531	N	-2.91	0.91696	D	-0.04	0.07882	N	0.108	0.14763	-0.7558	0.57630	T	0.396	0.74887	T	10	0.07097423	0.10398	T	0.051932	0.64866	D	0.306	0.62729	0.274	0.22528	0.589546583947	0.58630	0.23928539843720242	0.23842	0.0355094227063	0.03747	0.590335845947	0.51541	T	0.566787	0.85590	D	-0.0608039	0.42782	T	-0.325117	0.42012	T	0.246117502450943	0.22698	T	0.848715	0.53056	T	0.1442338	0.33115	0.12212511	0.29462	0.1442338	0.33115	0.12212511	0.29461	-3.319	0.14061	T	0.07031506879511587	0.02707	0.067	0.12844	B	.;.;.;.;.	.;.;.;.;.	0.607548	0.09760	6.527	0.7046728249007812	0.09305	0.73511	0.35958	D	AEFBI	0.133936	0.25376	N	-0.999802896591094	0.08608	0.4042519	-0.831004805789844	0.13745	0.7146976	0.991427533064911	0.32484	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.63	-1.88	0.07294	0.408000	0.20787	-0.438000	0.09178	-0.780000	0.03343	0.998000	0.41325	0.156000	0.23222	0.973000	0.55318	0.0:0.5037:0.1275:0.3688	9.187	0.36337	417	0.81662	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1266.43	39	chr11	128839449	.	C	A	1266.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.689;DP=434;ExcessHet=0;FS=3.433;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=-0.635;SOR=0.57	GT:AD:DP:GQ:PL	0/1:57,56:113:99:1278,0,1575	9	0	1	0
chr11	130469325	130469325	G	A	exonic	ADAMTS15	.	nonsynonymous SNV	ADAMTS15:NM_139055:exon5:c.G1606A:p.V536M	.	418	1100	4	0	0	4	0.00181488	.	.	.	2810026	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.457	0.0599579386347	0.0023	0.000798722	0.0027	0.0002	0.0002	0	0.0030	0.0039	0.0052	0.0018	0.0023868	369	154602	rs149341964	0.0030	0.0029	0.0031	0.0029	0.0032	0.0029	0.0028	0.0031	0.0031	0.0004	0.0004	0.0032	0	0.0043	0.0013	0.0032	0.0025	0.0014	0.0019	0.0019	0.0019	0.0018	0.0028	0.0017	0.0016	0.0024	0.0023	0.0005	0.0175	0.0003	0.0017	0	0.0034	0	0.0028	0.0014	0.0017	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	2.935	0.84639	M	0.6	0.53731	T	-2.77	0.58733	D	0.74	0.74007	-0.1180	0.79681	T	0.386	0.74114	T	9	0.054370284	0.05778	T	0.059958	0.67839	D	0.457	0.75551	.	.	0.824257999884	0.82259	0.728705181514215	0.72814	0.83910681549	0.67956	0.530759692192	0.43141	T	0.270316	0.64257	T	-0.217749	0.18301	T	-0.0804303	0.64873	T	0.0433583792024969	0.04304	T	0.963704	0.86510	D	0.35261357	0.57269	0.45353207	0.68219	0.35261357	0.57270	0.45353207	0.68219	-10.569	0.77243	D	.	.	0.618	0.69608	P	.	.	5.096180	0.85121	28.5	0.99914435243871114	0.98309	0.99241	0.93311	D	AEFDBI	0.883815	0.81302	D	0.817643418883172	0.87196	9.135318	0.747743063105443	0.85987	8.747738	0.999999963452274	0.74766	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.49	4.58	0.56077	8.152000	0.89578	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.901000	0.43729	0.0713:0.0:0.9287:0.0	14.346	0.66222	942	0.12992	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000506	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	870.43	40	chr11	130469325	.	G	A	870.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.02;DP=432;ExcessHet=0;FS=1.843;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.02;ReadPosRankSum=0.172;SOR=0.96	GT:AD:DP:GQ:PL	0/1:39,40:79:99:882,0,826	9	0	1	0
chr11	134210310	134210310	T	C	exonic	NCAPD3	.	nonsynonymous SNV	NCAPD3:NM_001372069:exon3:c.A113G:p.H38R,NCAPD3:NM_001372065:exon4:c.A527G:p.H176R,NCAPD3:NM_001372068:exon4:c.A527G:p.H176R,NCAPD3:NM_015261:exon4:c.A527G:p.H176R,NCAPD3:NM_001372070:exon6:c.A113G:p.H38R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.00277786763977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	0	0	6.564e-06	6.561e-06	0	1.342e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.498	0.07797	T	0.088	0.40586	T	0.012	0.16265	B	0.002	0.06944	B	0.816857	0.09209	N	0.935437	1	0.08975	N	1.1	0.28011	L	2.0	0.21473	T	-0.38	0.13418	N	0.05	0.02179	-0.9963	0.30946	T	0.022	0.09559	T	10	0.032693356	0.01426	T	0.002778	0.05781	T	0.004	0.00165	0.202	0.11659	0.152612264143	0.14878	0.049591120084439576	0.04902	0.0893604641147	0.10097	0.276299923658	0.06981	T	0.004925	0.04343	T	-0.340603	0.05346	T	-0.727029	0.04463	T	0.015706284517003	0.00362	T	0.532847	0.17735	T	0.021788996	0.00800	0.026194246	0.00697	0.021788996	0.00800	0.026194246	0.00697	-0.325	0.00487	T	.	.	0.078	0.06803	B	.	.	-0.265170	0.02775	0.375	0.45997870322991552	0.03651	0.05247	0.11081	N	AEFBI	0.033958	0.04125	N	-1.21660076933853	0.04758	0.2154623	-1.25785521434011	0.05016	0.2380066	0.998508841062514	0.37090	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.44	-4.15	0.03617	-0.355000	0.07721	-0.688000	0.07853	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.0:0.4165:0.2451:0.3384	7.200	0.25051	872	0.31118	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1137.43	35	chr11	134210310	.	T	C	1137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.304;DP=435;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=0.897;SOR=0.599	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1149,0,1722	9	0	1	0
chr12	885416	885416	A	G	exonic	WNK1	.	nonsynonymous SNV	WNK1:NM_014823:exon17:c.A3871G:p.T1291A,WNK1:NM_001184985:exon19:c.A5392G:p.T1798A,WNK1:NM_018979:exon19:c.A4612G:p.T1538A,WNK1:NM_213655:exon19:c.A5368G:p.T1790A	Neuropathy, hereditary sensory and autonomic, type II, Autosomal recessive;Pseudohypoaldosteronism, type IIC, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	3089351	Neuropathy,_hereditary_sensory_and_autonomic,_type_2A|Pseudohypoaldosteronism_type_2C	MONDO:MONDO:0024309,MedGen:C2752089,OMIM:201300,Orphanet:970|MONDO:MONDO:0013778,MedGen:C1840391,OMIM:614492,Orphanet:757,Orphanet:88940	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00634492441673	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs749867274	3.421e-06	3.42e-06	0	6.877e-06	0.0003	1e-06	7.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	0	0	3.478e-05	6.574e-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	0.51	0.10378	T	0.965	0.02516	T	0.001	0.07471	B	0.001	0.04355	B	0.646397	0.10553	N	0.842906	1	0.08975	N	0.11	0.08516	N	0.83	0.47815	T	-1.2	0.30555	N	0.026	0.01274	-0.9281	0.44415	T	0.041	0.17700	T	10	0.027050853	0.00859	T	0.006345	0.16668	T	0.053	0.14996	0.102	0.01589	0.134007934775	0.12933	0.08593966915310039	0.08527	0.118273141635	0.13311	0.306251883507	0.11341	T	0.062113	0.54895	T	-0.439028	0.01310	T	-0.771555	0.02717	T	0.0181286127302096	0.00535	T	0.759724	0.38410	T	0.023683682	0.01129	0.038742676	0.03811	0.023683682	0.01129	0.038742676	0.03811	-3.368	0.15780	T	.	.	0.061	0.05145	B	.;.;.;.;.	.;.;.;.;.	-0.777876	0.01151	0.054	0.41070531021125889	0.02939	0.02213	0.06447	N	AEFDBI	0.051758	0.09174	N	-1.64111317108341	0.01073	0.04656796	-1.64227724709195	0.01416	0.06402976	0.969632054723363	0.29144	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	-7.3	0.01298	-0.732000	0.05008	-1.338000	0.05679	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.879000	0.42020	0.2494:0.1046:0.646:0.0	13.601	0.61485	552	0.72024	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3786.43	38	chr12	885416	.	A	G	3786.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.17;DP=810;ExcessHet=0;FS=0.409;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.1;ReadPosRankSum=0.074;SOR=0.659	GT:AD:DP:GQ:PL	0/1:163,150:313:99:3798,0,3831	9	0	1	0
chr12	3021922	3021922	C	T	exonic	TEAD4	.	nonsynonymous SNV	TEAD4:NM_201443:exon8:c.C415T:p.R139C,TEAD4:NM_201441:exon9:c.C673T:p.R225C,TEAD4:NM_003213:exon10:c.C802T:p.R268C	.	433	1076	13	0	0	13	0.00600462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	0.0416035567419	0.0005	0.00139776	0.0015	0	0.0003	0.0002	0	0.0007	0.0022	0.0079	0.001313	203	154602	rs141718322	0.0009	0.0009	0.0006	0.0011	0.0076	0.0008	0.0008	0.0071	0.0069	0.0002	0.0006	0.0034	0.0001	3.744e-05	0.0042	0.0003	0.0013	0.0076	0.0007	0.0007	0.0004	0.0011	0.0068	0.0006	0.0006	0.0050	0.0044	9.621e-05	0	0.0020	0.0035	0.0002	0.0003	0.0034	0.0003	0.0028	0.0068	0.001	0.91255	D	0.005	0.83351	D	.	.	.	.	.	.	0.033385	0.24904	N	0.423325	1	0.81001	D	.	.	.	1.29	0.35775	T	-6.9	0.94326	D	0.738	0.73826	-0.3725	0.72885	T	0.220	0.58279	T	10	0.011027575	0.00243	T	0.041604	0.60019	D	0.287	0.60574	.	.	0.447609009685	0.44385	0.5495088106114524	0.54876	.	.	0.401044994593	0.25214	T	0.486169	0.81636	T	-0.235564	0.15919	T	-0.106021	0.62927	T	0.107860407961492	0.13200	T	0.949205	0.80472	D	.	.	.	.	.	.	.	.	-8.694	0.65707	D	.	.	0.124	0.39477	B	.;.;.	.;.;.	4.627905	0.73545	26.0	0.99924010815693953	0.98980	0.87121	0.46566	D	AEFDBI	0.612795	0.60073	D	0.493373092608545	0.66700	4.984362	0.377567847169519	0.60184	4.203278	0.999999967032275	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.19	4.19	0.48645	1.634000	0.36736	3.911000	0.40409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.672	0.77045	753	0.51500	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2555.43	35	chr12	3021922	.	C	T	2555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.471;DP=531;ExcessHet=0;FS=0.566;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=2.23;SOR=0.77	GT:AD:DP:GQ:PL	0/1:70,106:176:99:2567,0,1508	9	0	1	0
chr12	5952518	5952518	C	G	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon49:c.G7988C:p.R2663P	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	1	1513	7	1	0	9	0.0029654	0.0003	0.01	YES	360133	not_specified|von_Willebrand_disease_type_2|von_Willebrand_disease_type_1|von_Willebrand_disease_type_3|not_provided|Thrombocytopenia|Abnormal_bleeding|Abnormality_of_coagulation	MedGen:CN169374|MONDO:MONDO:0013304,MedGen:C1264040,OMIM:613554,Orphanet:166081,Orphanet:903|MONDO:MONDO:0008668,MedGen:C1264039,OMIM:193400,Orphanet:166078,Orphanet:903|MONDO:MONDO:0010191,MedGen:C1264041,OMIM:277480,Orphanet:166096|MedGen:C3661900|Human_Phenotype_Ontology:HP:0001873,Human_Phenotype_Ontology:HP:0001906,Human_Phenotype_Ontology:HP:0004838,Human_Phenotype_Ontology:HP:0008175,Human_Phenotype_Ontology:HP:0008268,Human_Phenotype_Ontology:HP:0008302,MONDO:MONDO:0002049,MeSH:D013921,MedGen:C0040034|Human_Phenotype_Ontology:HP:0001892,Human_Phenotype_Ontology:HP:0004830,Human_Phenotype_Ontology:HP:0004834,Human_Phenotype_Ontology:HP:0004849,Human_Phenotype_Ontology:HP:0004862,Human_Phenotype_Ontology:HP:0004865,Human_Phenotype_Ontology:HP:0008183,MedGen:C1458140|Human_Phenotype_Ontology:HP:0001928,MedGen:C1846821	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.258	0.0236938711446	0.0013	0.000998403	0.0016	0.0002	0.0008	0	0.0015	0.0024	0.0011	0.0006	0.0014877	230	154602	rs149834874	0.0014	0.0014	0.0013	0.0014	0.0017	0.0013	0.0013	0.0015	0.0015	0.0004	0.0014	0	0	0.0014	0.0017	0.0015	0.0013	0.0004	0.0012	0.0012	0.0012	0.0012	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0	0.0020	0	0	0.0008	0	0.0019	0.0014	0.0006	0.313	0.13879	T	0.325	0.18846	T	0.0	0.02946	B	0.001	0.04355	B	0.065177	0.21900	N	0.250565	0.970395	0.25706	N	1.16	0.29674	L	1.41	0.33412	T	0.55	0.02721	N	0.111	0.09772	-1.0814	0.07079	T	0.038	0.16290	T	10	0.0086913705	0.00197	T	0.023694	0.46671	T	0.258	0.56959	.	.	0.543910352347	0.54045	0.867760735877811	0.86741	0.398802310197	0.40933	0.28270149231	0.07872	T	0.276731	0.64933	T	-0.331171	0.06023	T	-0.254029	0.49419	T	0.0169920961985357	0.00448	T	0.705929	0.31637	T	0.12809867	0.29959	0.109375544	0.26359	0.12809867	0.29958	0.109375544	0.26358	-1.665	0.02139	T	0.047821547986899686	0.00713	0.124	0.26200	B	.	.	1.787980	0.22733	15.74	0.96392434450052522	0.29658	0.37929	0.25873	N	AEFBCI	0.296467	0.40630	N	-0.540539442627174	0.20781	1.098077	-0.410511227274071	0.24689	1.353379	0.00578721701590042	0.11042	0.631515	0.41029	0	0.563428	0.19063	0	0.602189	0.34648	0	0.741806	0.99463	0	.	.	5.36	2.2	0.26966	1.665000	0.37066	-1.185000	0.06085	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.227000	0.22653	0.0:0.4275:0.4791:0.0934	8.229	0.30750	958	0.09170	.	.	.	.	.	.	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	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	780.43	33	chr12	5952518	.	C	G	780.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.33;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.77;ReadPosRankSum=0.157;SOR=0.627	GT:AD:DP:GQ:PL	0/1:56,33:89:99:792,0,1301	9	0	1	0
chr12	6016542	6016542	T	C	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon30:c.A5285G:p.Q1762R	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	225	1	0	0	1	0.00221729	.	.	.	3393373	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.378	0.135245213885	.	.	0.0001	0	0	0	0	1.511e-05	0	0.0009	0.0001035	16	154602	rs199729586	8.004e-05	8.003e-05	5.309e-05	0.0001	0.0011	6.801e-05	6.355e-05	0.0009	0.0009	0	0	0	0	0	0	1.619e-05	4.968e-05	0.0011	3.285e-05	3.283e-05	2.569e-05	4.035e-05	0.0008	1.261e-05	7.98e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.303	0.14352	T	0.369	0.16522	T	0.611	0.39680	P	0.346	0.42645	B	0.000748	0.42006	D	0.000000	0.988173	0.40716	D	1.63	0.41750	L	-1.07	0.76948	T	-0.77	0.21429	N	0.386	0.42737	-0.3946	0.72197	T	0.366	0.72613	T	10	0.08679381	0.14790	T	0.135245	0.81770	D	0.378	0.69612	.	.	0.580379909603	0.57708	0.6347798822703247	0.63411	0.757803639477	0.64090	0.472585439682	0.35035	T	0.339001	0.70820	T	-0.2244	0.17396	T	-0.151459	0.59114	T	0.112820915937742	0.13714	T	0.615438	0.23533	T	0.4852627	0.66218	0.25480202	0.51151	0.4852627	0.66219	0.25480202	0.51150	-2.951	0.09663	T	0.2081873532365837	0.27843	0.089	0.12181	B	.	.	2.401060	0.30846	18.56	0.99040350644087538	0.51006	0.87449	0.46992	D	AEFDGBI	0.436555	0.49672	N	0.0936789595619178	0.46167	2.86139	0.137657294746969	0.46491	2.894288	0.995202756572164	0.34004	0.67177	0.52595	0	0.59043	0.45803	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	4.34	4.34	0.51267	2.324000	0.43491	2.285000	0.31922	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.862000	0.40904	0.0:0.0:0.0:1.0	12.817	0.57055	952	0.10565	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2168.43	34	chr12	6016542	.	T	C	2168.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.209;DP=515;ExcessHet=0;FS=1.168;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=54.68;MQRankSum=-0.637;QD=11.53;ReadPosRankSum=1.26;SOR=0.588	GT:AD:DP:GQ:PL	0/1:96,92:188:99:2180,0,2315	9	0	1	0
chr12	6492958	6492958	T	C	exonic	MRPL51	.	nonsynonymous SNV	MRPL51:NM_016497:exon2:c.A94G:p.I32V	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00619917486402	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340265704	7.525e-06	7.525e-06	8.168e-06	6.876e-06	0.0002	4.04e-06	2.95e-06	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	6.296e-06	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.449	0.09022	T	0.532	0.10034	T	0.0	0.02946	B	0.0	0.01387	B	0.774717	0.09519	N	0.908121	1	0.08975	N	-0.345	0.03330	N	1.01	0.41058	T	0.09	0.05917	N	0.125	0.11769	-1.0217	0.23162	T	0.038	0.16203	T	10	0.04325351	0.03155	T	0.006199	0.16259	T	0.019	0.03383	0.254	0.19378	0.0762999501168	0.06990	0.31090213137880857	0.31003	0.325946002528	0.34745	0.337213128805	0.16021	T	0.012602	0.11050	T	-0.345329	0.05027	T	-0.733817	0.04157	T	0.0399609506130219	0.03683	T	0.494051	0.15283	T	0.11791804	0.27790	0.11224551	0.27083	0.11791804	0.27790	0.11224551	0.27082	-2.456	0.05487	T	.	.	0.072	0.04396	B	.	.	-0.224456	0.02968	0.441	0.42955560844786317	0.03201	0.03803	0.09135	N	AEFDGBHCI	0.170322	0.29722	N	-1.70709090647437	0.00817	0.03531872	-1.7940471919734	0.00778	0.03471953	0.999999999994056	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.672317	0.60874	0	0.56214	0.19341	0	.	.	4.96	-9.6	0.00464	-0.005000	0.12791	0.325000	0.17225	-0.292000	0.06281	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.31:0.3104:0.0:0.3796	5.990	0.18684	823	0.40596	.	.	.	.	.	.	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	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.007576	0.05	1432.43	40	chr12	6492958	.	T	C	1432.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.73;DP=466;ExcessHet=0;FS=4.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=0.27;SOR=1.038	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1444,0,1677	9	0	1	0
chr12	6855791	6855791	C	A	exonic	USP5	.	nonsynonymous SNV	USP5:NM_001382588:exon2:c.C148A:p.P50T,USP5:NM_001382589:exon2:c.C148A:p.P50T,USP5:NM_001098536:exon3:c.C274A:p.P92T,USP5:NM_001382590:exon3:c.C136A:p.P46T,USP5:NM_001382591:exon3:c.C274A:p.P92T,USP5:NM_003481:exon3:c.C274A:p.P92T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.0190983388437	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.004	0.74150	D	0.598	0.44910	P	0.408	0.51231	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.105	0.58435	M	1.8	0.25344	T	-5.61	0.87911	D	0.683	0.73195	-0.9441	0.41960	T	0.133	0.44484	T	10	0.6691886	0.70609	D	0.019098	0.41369	T	0.293	0.61272	0.342	0.33464	0.475375588166	0.47167	0.7578345136441068	0.75731	0.918765570636	0.71367	0.66427052021	0.62020	T	0.700227	0.91362	D	0.0845996	0.62575	D	-0.116255	0.62108	T	0.993655204772949	0.84541	D	0.945605	0.79272	D	0.7458478	0.80628	0.58224964	0.75783	0.7458478	0.80629	0.58224964	0.75783	-6.68	0.52863	T	.	.	0.354	0.82272	A	.;.;.	.;.;.	3.973346	0.58361	24.0	0.99809938144482013	0.89353	0.99725	0.98989	D	AEFBI	0.875273	0.79859	D	0.530194145179642	0.68885	5.279055	0.530638039307535	0.70064	5.45025	0.999999999984191	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.14	5.14	0.70008	7.388000	0.79070	7.639000	0.63104	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:1.0:0.0:0.0	18.808	0.92011	562	0.71143	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	111.43	63	chr12	6855791	.	C	A	111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.758;DP=451;ExcessHet=0;FS=36.128;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=0.056;SOR=3.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,14:114:99:0|1:6855789_C_A:123,0,2463:6855789	9	0	1	0
chr12	8847610	8847610	A	G	exonic	A2ML1	.	nonsynonymous SNV	A2ML1:NM_001282424:exon4:c.A272G:p.Q91R,A2ML1:NM_144670:exon15:c.A1745G:p.Q582R	.	.	.	.	.	.	.	.	.	.	.	399243	not_specified|A2ML1-related_disorder|not_provided	MedGen:CN169374|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.071	0.0115633643904	0.0017	0.00139776	0.0006	0.0063	0.0003	0	0	3.003e-05	0	6.112e-05	0.0004851	75	154602	rs200271507	0.0002	0.0002	0.0003	0.0002	0.0079	0.0002	0.0002	0.0071	0.0068	0.0079	0.0003	0	0	0	0.0005	5.397e-06	0.0004	4.642e-05	0.0021	0.0021	0.0020	0.0021	0.0073	0.0019	0.0018	0.0066	0.0064	0.0073	0	0.0005	0	0	0	0	1.47e-05	0.0009	0	0.332	0.13262	T	0.408	0.14633	T	0.009	0.15093	B	0.02	0.19048	B	0.101554	0.19834	N	0.420447	0.995612	0.23246	N	0.785	0.19527	N	-0.0	0.62608	T	-1.9	0.44284	N	0.115	0.10340	-1.0389	0.17648	T	0.073	0.29451	T	10	0.011335194	0.00248	T	0.011563	0.29307	T	0.071	0.20720	.	.	0.110078149338	0.10416	0.25499050583571	0.25413	0.146275737254	0.16512	0.629050374031	0.57010	T	0.006429	0.20628	T	-0.480925	0.00730	T	-0.459307	0.26674	T	0.00648546147249904	0.00072	T	0.512349	0.21111	T	0.06351436	0.13382	0.06979071	0.14747	0.06620643	0.14223	0.06510862	0.13146	-4.032	0.25290	T	.	.	0.077	0.06387	B	.;.;.;.	.;.;.;.	1.240744	0.16364	12.49	0.98684772027764067	0.44667	0.21599	0.21458	N	AEFDBI	0.156285	0.28161	N	-0.865515027119635	0.11671	0.5644574	-0.778158462427507	0.15030	0.7884601	0.00606397462261267	0.11119	0.651	0.46895	0	0.59043	0.45803	0	0.65145	0.50148	0	0.564101	0.26826	0	.	.	3.63	1.25	0.20475	0.297000	0.18856	0.956000	0.22957	0.743000	0.86499	0.020000	0.19661	0.046000	0.21717	0.709000	0.34421	0.8104:0.0:0.1896:0.0	7.620	0.27349	730	0.54327	Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2;Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2;.;Alpha-2-macroglobulin, N-terminal 2|Alpha-2-macroglobulin, N-terminal 2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	530.43	34	chr12	8847610	.	A	G	530.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.407;DP=388;ExcessHet=0;FS=0.889;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.98;ReadPosRankSum=0.739;SOR=0.858	GT:AD:DP:GQ:PL	0/1:47,29:76:99:542,0,1161	9	0	1	0
chr12	9106267	9106267	T	C	exonic	A2M	.	nonsynonymous SNV	A2M:NM_001347425:exon9:c.A623G:p.H208R,A2M:NM_000014:exon10:c.A1073G:p.H358R,A2M:NM_001347424:exon10:c.A773G:p.H258R,A2M:NM_001347423:exon11:c.A1073G:p.H358R	Alpha-2-macroglobulin deficiency, Autosomal dominant	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.00467845077539	0.0004	0.000399361	0.0003	0.0002	0.0003	0	0	0.0003	0.0011	0.0006	0.0002652	41	154602	rs112506934	0.0002	0.0002	0.0002	0.0003	0.0083	0.0002	0.0002	0.0065	0.0058	0.0004	0.0002	7.655e-05	0	0	0.0083	0.0002	0.0005	0.0006	0.0003	0.0003	0.0003	0.0002	0.0010	0.0002	0.0002	0.0004	0.0003	4.812e-05	0	0.0001	0.0003	0	0	0.0034	0.0004	0.0005	0.0010	0.037	0.43085	D	0.075	0.42794	T	0.015	0.17086	B	0.013	0.16460	B	0.717714	0.09961	N	0.863885	1	0.08975	N	2.125	0.59049	M	1.63	0.28002	T	-4.94	0.81835	D	0.129	0.12341	-1.0039	0.28785	T	0.110	0.39675	T	10	0.04482618	0.03484	T	0.004678	0.11628	T	0.200	0.48430	.	.	0.706465547616	0.70391	0.5305596468533889	0.52979	0.256975690804	0.28266	0.248988330364	0.03662	T	0.422647	0.77365	T	-0.537972	0.00345	T	-0.661105	0.08192	T	0.0339619744806277	0.02631	T	0.248675	0.03700	T	0.34815186	0.56923	0.33046913	0.58915	0.34815186	0.56923	0.33046913	0.58915	-9.806	0.72742	D	.	.	0.186	0.40164	B	.	.	1.779695	0.22627	15.70	0.91793725365755152	0.21099	0.37475	0.25770	N	AEFBCI	0.609124	0.59844	D	-0.349027474921849	0.27307	1.497209	-0.339786292163562	0.26826	1.484358	0.999599657450578	0.40745	0.516011	0.20929	0	0.624306	0.53593	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	6.06	6.06	0.98340	1.818000	0.38650	3.523000	0.38910	0.665000	0.62972	0.009000	0.18154	0.831000	0.27213	0.351000	0.25682	0.0:0.0:0.0:1.0	13.001	0.58080	543	0.72751	.	.	.	.	.	.	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	0.007049	0.000000	0.010870	0.017544	0.000000	0.008621	0.000000	0.000000	0.05	956.43	39	chr12	9106267	.	T	C	956.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.827;DP=411;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=0.418;SOR=0.669	GT:AD:DP:GQ:PL	0/1:34,44:78:99:968,0,671	9	0	1	0
chr12	11267945	11268007	GTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTG	-	exonic	PRB3	.	nonframeshift deletion	PRB3:NM_006249:exon3:c.242_304del:p.P81_G101del	.	439	1076	4	0	3	7	0.00185529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0019	0.0007	0.0007	0	0.0032	0.0027	0.0045	0.0004	0.0006147	16	26028	.	0.0014	0.0014	0.0013	0.0015	0.0021	0.0013	0.0013	0.0014	0.0013	0.0002	0.0016	0.0038	9.472e-05	0.0049	0.0021	0.0012	0.0023	0.0016	0.0010	0.0009	0.0012	0.0009	0.0011	0.0008	0.0007	0.0008	0.0007	0.0004	0.0028	0.0011	0.0006	0	0.0037	0.0116	0.0011	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1477.01	59	chr12	11267944	.	TGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTG	T	1477.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=3.24;DP=744;ExcessHet=0;FS=4.611;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=54.95;MQRankSum=0.557;QD=6.97;ReadPosRankSum=-0.67;SOR=1.056	GT:AD:DP:GQ:PL	0/1:157,55:212:99:1488,0,5478	8	0	1	1
chr12	15484161	15484161	A	G	exonic	PTPRO	.	nonsynonymous SNV	PTPRO:NM_002848:exon2:c.A263G:p.Y88C,PTPRO:NM_030667:exon2:c.A263G:p.Y88C	Nephrotic syndrome, type 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3713860	Nephrotic_syndrome,_type_6	MONDO:MONDO:0013619,MedGen:C3280100,OMIM:614196,Orphanet:656	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.441	0.0306437612143	7.7e-05	.	1.655e-05	0	0	0	0	1.503e-05	0.0011	0	1.29e-05	2	154602	rs375282118	3.764e-05	3.762e-05	5.04e-05	2.476e-05	4.859e-05	2.961e-05	2.657e-05	3.806e-05	3.409e-05	0	0	0	0	0	0	4.859e-05	1.657e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.862	0.67021	P	0.000261	0.46924	D	0.000000	0.999978	0.53665	D	1.04	0.26193	L	3.34	0.06368	T	-3.22	0.69477	D	0.872	0.91621	-1.1186	0.02421	T	0.037	0.15986	T	10	0.7371185	0.74698	D	0.030644	0.52913	D	0.441	0.74447	.	.	0.561981951463	0.55859	0.5896400975947704	0.58894	1.03121736478	0.75431	0.75323164463	0.74923	T	0.59477	0.86926	D	0.114035	0.65769	D	-0.0584867	0.66439	T	0.974495887756348	0.70532	D	0.958404	0.84340	D	0.25197357	0.48210	0.34109172	0.59853	0.25197357	0.48210	0.34109172	0.59853	-5.49	0.48333	T	.	.	0.450	0.72111	A	.;.;.	.;.;.	4.657820	0.74315	26.1	0.99849306072360267	0.92838	0.96626	0.70088	D	AEFI	0.779950	0.71199	D	0.596585886251822	0.72961	5.888879	0.631328262553741	0.77225	6.638895	0.988775233332959	0.31623	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.48	5.48	0.80675	6.780000	0.74837	10.915000	0.84205	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	15.582	0.76195	817	0.41665	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	74.43	33	chr12	15484161	.	A	G	74.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-5.142;DP=507;ExcessHet=0;FS=121.088;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=2.1;SOR=7.327	GT:AD:DP:GQ:PL	0/1:154,38:192:86:86,0,3267	9	0	1	0
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I,FAR2:NM_001271783:exon7:c.C839T:p.T280I,FAR2:NM_018099:exon7:c.C839T:p.T280I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	607.22	33	chr12	29311098	.	C	T	607.22	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.337;DP=703;ExcessHet=0.2348;FS=112.827;InbreedingCoeff=-0.1149;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.15;ReadPosRankSum=1.09;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,33:158:99:0|1:29311098_C_T:465,0,4770:29311098	8	0	2	0
chr12	29495332	29495332	A	G	exonic	OVCH1	.	nonsynonymous SNV	OVCH1:NM_001353179:exon4:c.T407C:p.M136T	.	434	1071	15	2	0	19	0.00879223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0133570225336	0.0011	0.000599042	0.0007	0	0.0007	0	0	0.0012	0	0.0002	0.0006727	104	154602	rs145585474	0.0006	0.0006	0.0006	0.0006	0.0099	0.0005	0.0005	0.0078	0.0071	0.0005	0.0008	0.0081	0	3.749e-05	0.0099	0.0004	0.0014	0.0002	0.0008	0.0008	0.0007	0.0010	0.0016	0.0007	0.0007	0.0011	0.0010	9.618e-05	0.0230	0.0016	0.0089	0	0	0.0068	0.0006	0.0009	0	0.003	0.68238	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	-2.3	0.87671	D	-4.1	0.74900	D	0.387	0.42834	-0.6214	0.63931	T	0.354	0.71728	T	9	0.007379234	0.00168	T	0.013357	0.32703	T	0.337	0.65913	.	.	0.771612649732	0.76951	0.19048937656957088	0.18966	0.198141154326	0.22192	0.420207709074	0.27865	T	.	.	.	-0.259407	0.12969	T	-0.201745	0.54480	T	0.0664368857320869	0.08141	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.42749	B	.	.	1.185806	0.15766	12.09	0.97573721156912263	0.34692	0.19815	0.20806	N	AEFI	0.033367	0.03942	N	-0.482265707306602	0.22662	1.211648	-0.585589920534754	0.19869	1.06795	0.00284753427874371	0.09746	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.89	-1.27	0.08863	0.205000	0.17154	0.347000	0.17439	0.731000	0.85647	0.846000	0.30379	0.025000	0.21018	0.747000	0.35681	0.4511:0.3697:0.0:0.1792	4.884	0.13051	752	0.51611	.	.	.	.	.	.	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	0.012085	0.005051	0.013587	0.035088	0.000000	0.008621	0.003049	0.000000	0.05	1424.43	66	chr12	29495332	.	A	G	1424.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.346;DP=417;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.74;ReadPosRankSum=-1.445;SOR=0.606	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,37:76:99:0|1:29495332_A_G:1436,0,1526:29495332	9	0	1	0
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.489	0.0629985215375	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	0.18956	T	0.227	0.25362	T	0.722	0.42387	P	0.519	0.48163	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.99	0.75911	T	-1.75	0.41428	N	0.71	0.71321	-0.1290	0.79425	T	0.446	0.78221	T	10	0.69258845	0.71947	D	0.062999	0.68831	D	0.489	0.77656	0.527	0.63263	0.644369250691	0.64143	0.8989563015606465	0.89867	0.486330154237	0.47495	0.655019402504	0.60698	T	0.25826	0.62940	T	0.186182	0.72612	D	0.0296617	0.72257	D	0.980596303939819	0.73444	D	0.89551	0.63622	D	0.35904205	0.57762	0.30843896	0.56862	0.35904205	0.57763	0.30843896	0.56861	-11.185	0.80663	D	.	.	0.171	0.37633	B	.	.	4.277361	0.65129	24.8	0.99608861495682466	0.74694	0.91321	0.53298	D	AEFCI	0.719950	0.67067	D	0.487429499125516	0.66355	4.939395	0.535340465806759	0.70385	5.49735	0.998323112009773	0.36758	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	5.39	0.77615	4.252000	0.58574	11.595000	0.93433	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.172	0.93569	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily 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	.	.	.	.	.	.	.	.	0.05	1393.03	83	chr12	39764776	.	G	A	1393.03	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.279;DP=513;ExcessHet=10.3881;FS=336.368;InbreedingCoeff=-0.6794;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.51;ReadPosRankSum=1.11;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,8:32:80:0|1:39764776_G_A:80,0,515:39764776	9	0	1	0
chr12	39764778	39764778	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1526T:p.A509V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.0177069271949	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	0	1.377e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	6.581e-06	6.566e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.309	0.14064	T	0.311	0.19660	T	0.014	0.16867	B	0.05	0.25278	B	0.000013	0.62929	D	0.113054	0.999713	0.48481	D	.	.	.	-1.01	0.76168	T	-0.31	0.12099	N	0.257	0.29081	-0.7453	0.58180	T	0.273	0.64443	T	10	0.21655372	0.38241	T	0.017707	0.39515	T	0.203	0.48915	0.697	0.83406	0.151262610727	0.14761	0.7928660009766968	0.79239	0.224749101013	0.25008	0.54022371769	0.44477	T	0.147497	0.48561	T	-0.0588532	0.43086	T	-0.322315	0.42320	T	0.95820426940918	0.65209	D	0.889111	0.62070	D	0.12108061	0.28480	0.15200104	0.35782	0.12108061	0.28480	0.15200104	0.35781	-8.403	0.63785	D	.	.	0.247	0.48135	B	.	.	3.158678	0.42787	21.6	0.72433600078509297	0.09972	0.85720	0.44884	D	AEFCI	0.561062	0.56921	D	-0.0694159268393656	0.38738	2.273609	0.136951197838408	0.46454	2.891159	0.361488548204108	0.19782	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.39	4.49	0.54177	5.774000	0.68561	9.659000	0.81190	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0721:0.0:0.9279:0.0	14.373	0.66419	507	0.75469	Major facilitator superfamily domain|Major facilitator superfamily 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	.	.	.	.	.	.	.	.	0.25	897.15	66	chr12	39764778	.	G	A	897.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.361;DP=458;ExcessHet=2.8389;FS=279.776;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=3.99;ReadPosRankSum=0.768;SOR=8.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,8:32:80:0|1:39764776_G_A:80,0,515:39764776	5	0	5	0
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7725.97	1277	chr12	40482890	.	T	*	7725.97	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-1.523;DP=11121;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.6667;MLEAC=4;MLEAF=0.333;MQ=58.41;MQRankSum=-21.94;QD=1.15;ReadPosRankSum=2.7;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:552,692:1244:99:.:.:18960,0,19676:.	3	0	3	4
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	681.39	755	chr12	40483175	.	GAAC	G	681.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=9.07;DP=7184;ExcessHet=0;FS=2.182;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.69;MQRankSum=-14.1;QD=0.78;ReadPosRankSum=-9.02;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:802,74:876:99:0|1:40483128_A_G:693,0,33453:40483128	9	0	1	0
chr12	40483182	40483208	AGCTGGGGTTACAGGGACAACTGAACT	-	exonic	MUC19	.	unknown	UNKNOWN	.	543	961	18	0	0	18	0.00927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1244476502	0	4.106e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0043	0.0002	0.0003	0.0005	0.0002	0.0001	0.0003	0.0002	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	80.39	658	chr12	40483181	.	CAGCTGGGGTTACAGGGACAACTGAACT	C	80.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=8.61;DP=7183;ExcessHet=0;FS=2.175;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.67;MQRankSum=-14.29;QD=0.1;ReadPosRankSum=-8.989;SOR=1.076	GT:AD:DP:GQ:PL	0/1:767,67:836:92:92,0,37708	9	0	1	0
chr12	40486404	40486404	-	ATCA	exonic	MUC19	.	unknown	UNKNOWN	.	549	963	8	0	2	10	0.0041365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1303231972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	0.0002	6.792e-05	0.0002	7.163e-05	5.806e-05	7.974e-05	5.64e-05	0.0002	0	6.592e-05	0.0003	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	4122.1	682	chr12	40486404	.	T	TATCA	4122.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=7.21;DP=8566;ExcessHet=0.2348;FS=50.469;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.99;MQRankSum=-30.06;QD=1.65;ReadPosRankSum=-7.859;SOR=5.99	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:982,109:1091:99:0|1:40486404_T_TATCA:1598,0,40276:40486404	8	0	2	0
chr12	40486405	40486405	-	CTAGGGTGACAGAGAGTACTGGACTA	exonic	MUC19	.	unknown	UNKNOWN	.	561	947	5	0	9	14	0.00263296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215974695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0062	0.0010	0.0005	0.0033	0.0005	0.0005	0.0006	0.0003	0.0007	0	0.0013	0.0017	0	0	0	0.0008	0	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	4242.97	682	chr12	40486405	.	G	GCTAGGGTGACAGAGAGTACTGGACTA	4242.97	.	AC=1;AF=0.125;AN=8;BaseQRankSum=7.71;DP=9215;ExcessHet=0.2348;FS=53.265;InbreedingCoeff=-0.3333;MLEAC=2;MLEAF=0.25;MQ=57.96;MQRankSum=-29.97;QD=1.69;ReadPosRankSum=-12.08;SOR=5.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:992,110:1102:99:0|1:40486404_T_TATCA:1614,0,40546:40486404	3	0	1	6
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1720.25	923	chr12	40486500	.	C	*	1720.25	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.871;DP=10569;ExcessHet=4.5998;FS=15.379;InbreedingCoeff=-0.4286;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=4.74;QD=0.31;ReadPosRankSum=-4.885;SOR=1.217	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:641,541:1182:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:20879,0,25186:40486484	5	0	5	0
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1680.87	923	chr12	40486506	.	A	*	1680.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.05;DP=10709;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.69;MQRankSum=4.55;QD=0.3;ReadPosRankSum=-7.683;SOR=1.22	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:641,541:1182:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:20879,0,25186:40486484	1	0	5	4
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1677.87	923	chr12	40486507	.	G	*	1677.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=-0.013;DP=10710;ExcessHet=4.5998;FS=15.598;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=56.7;MQRankSum=4.54;QD=0.3;ReadPosRankSum=-8.034;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:641,541:1182:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:20879,0,25186:40486484	1	0	5	4
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	1626.87	923	chr12	40486514	.	G	*	1626.87	.	AC=5;AF=0.417;AN=12;BaseQRankSum=1.88;DP=10703;ExcessHet=4.5998;FS=15.453;InbreedingCoeff=-0.6667;MLEAC=6;MLEAF=0.5;MQ=57.06;MQRankSum=4.22;QD=0.29;ReadPosRankSum=-9.992;SOR=1.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:641,541:1182:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:20879,0,25186:40486484	1	0	5	4
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	31329.3	901	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	31329.3	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.48;DP=10334;ExcessHet=15.1594;FS=3.513;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=56.49;MQRankSum=-24.25;QD=5.99;ReadPosRankSum=4.67;SOR=1.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:978,0:978:99:.:.:5974,0,40333:.	2	0	8	0
chr12	40488212	40488217	GGGGTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	573	874	75	0	0	75	0.041141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1328022944	0	4.385e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0005	0.0045	0.0004	0.0005	0.0005	0.0004	0.0003	0.0003	0.0003	0.0005	0	0.0005	0.0013	0	0.0004	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	846.01	840	chr12	40488211	.	TGGGGTG	T	846.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-3.288;DP=5445;ExcessHet=0;FS=7.858;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=58.29;MQRankSum=-21.09;QD=1.49;ReadPosRankSum=-2.266;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:506,61:567:99:0|1:40488211_TGGGGTG_T:857,0,20437:40488211	8	0	1	1
chr12	40488219	40488242	CAGAGACAACTGGACAATCAGCTG	-	exonic	MUC19	.	unknown	UNKNOWN	.	562	903	55	1	1	58	0.0305958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1486154631	0	3.663e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0004	0.0040	0.0004	0.0005	0.0005	0.0003	0.0003	0.0003	0.0003	0.0005	0	0.0004	0.0013	0	0.0005	0	0.0004	0.0010	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	679.01	840	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	679.01	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-2.683;DP=5359;ExcessHet=0;FS=8.395;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.056;MQ=58.33;MQRankSum=-21.4;QD=1.09;ReadPosRankSum=-2.61;SOR=1.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:561,61:622:99:0|1:40488211_TGGGGTG_T:690,0,22583:40488211	8	0	1	1
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	69569.5	840	chr12	40488224	.	A	*	69569.5	.	AC=1;AF=0.071;AN=14;BaseQRankSum=1.81;DP=5500;ExcessHet=0.0237;FS=0;InbreedingCoeff=0.3651;MLEAC=1;MLEAF=0.071;MQ=59.88;MQRankSum=-0.034;QD=24.35;ReadPosRankSum=0.835;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:561,61:622:99:0|1:40488211_TGGGGTG_T:690,0,22583:40488211	6	0	1	3
chr12	45036049	45036049	G	A	exonic	DBX2	.	nonsynonymous SNV	DBX2:NM_001004329:exon2:c.C469T:p.R157W	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.22128554262	0.0010	0.000399361	0.0006	0.0006	9.259e-05	0	0	0.0008	0.0013	0.0006	0.0005692	88	154602	rs138216785	0.0009	0.0009	0.0009	0.0009	0.0026	0.0009	0.0008	0.0016	0.0013	0.0006	0.0001	0.0031	0	0	0.0026	0.0010	0.0007	0.0009	0.0007	0.0007	0.0007	0.0007	0.0006	0.0006	0.0005	0.0004	0.0004	0.0006	0.0275	0.0005	0.0023	0.0002	0	0	0.0006	0	0.0006	0.005	0.63226	D	0.006	0.70582	D	0.999	0.77913	D	0.642	0.52168	P	0.001176	0.39978	N	0.112670	0.995255	0.42610	D	1.845	0.48678	L	-2.88	0.91533	D	-1.57	0.37955	N	0.539	0.56662	0.346	0.88272	D	0.683	0.89040	D	10	0.015768528	0.00331	T	0.221286	0.87799	D	0.423	0.73152	.	.	0.697080698451	0.69446	0.43743327417388733	0.43660	0.477986179833	0.46890	0.363723635674	0.19926	T	0.029684	0.21214	T	-0.205146	0.20067	T	-0.107987	0.62772	T	0.0408485498677449	0.03845	T	0.927207	0.73169	D	0.08991861	0.21024	0.10049926	0.24032	0.08991861	0.21024	0.10049926	0.24031	-3.663	0.18773	T	.	.	0.103	0.18456	B	.	.	3.825740	0.55270	23.6	0.99631457067569218	0.76081	0.96606	0.69985	D	AEFBI	0.834644	0.75267	D	0.300347462334199	0.56167	3.781053	0.326933964097619	0.57127	3.877539	0.995361218478635	0.34087	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.95	5.04	0.67293	5.148000	0.64701	8.214000	0.76818	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.239000	0.22975	0.0:0.0:0.8613:0.1387	16.106	0.81034	769	0.49307	.	.	.	.	.	.	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	0.001045	0.005102	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	1237.43	33	chr12	45036049	.	G	A	1237.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.208;DP=393;ExcessHet=0;FS=2.849;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.75;ReadPosRankSum=2.19;SOR=0.686	GT:AD:DP:GQ:PL	0/1:36,54:90:99:1249,0,729	9	0	1	0
chr12	49104501	49104501	T	G	exonic	LMBR1L	.	startloss	LMBR1L:NM_001352162:exon3:c.A208C:p.M70L,LMBR1L:NM_001352163:exon4:c.A1C:p.M1?,LMBR1L:NM_001352164:exon4:c.A1C:p.M1?,LMBR1L:NM_001352166:exon4:c.A1C:p.M1?,LMBR1L:NM_001300751:exon5:c.A382C:p.M128L,LMBR1L:NM_001352161:exon5:c.A382C:p.M128L,LMBR1L:NM_001352165:exon5:c.A1C:p.M1?,LMBR1L:NM_018113:exon5:c.A382C:p.M128L,LMBR1L:NM_001300750:exon6:c.A367C:p.M123L	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	0.0178155512385	0.0037	0.00159744	0.0044	0.0010	0.0030	0.0018	0.0071	0.0063	0.0022	0.0003	0.0043596	674	154602	rs35343771	0.0052	0.0052	0.0053	0.0051	0.0061	0.0051	0.0050	0.0059	0.0059	0.0009	0.0036	0.0008	0.0006	0.0070	0.0017	0.0061	0.0034	0.0003	0.0039	0.0039	0.0040	0.0038	0.0066	0.0037	0.0036	0.0056	0.0052	0.0012	0.0033	0.0066	0.0006	0.0010	0.0044	0	0.0056	0.0024	0.0004	0.965	0.14064	T	1.0	0.01155	T	0.856	0.47190	P	0.881	0.62579	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.97	0.24054	L	2.07	0.20387	T	-0.27	0.21429	N	0.797	0.79310	-1.1181	0.02455	T	0.068	0.28047	T	10	0.011871874	0.00258	T	0.017816	0.39666	T	0.210	0.50028	0.559	0.67821	0.337868961071	0.33390	0.7318827650904166	0.73133	0.94361214933	0.72314	0.834320783615	0.87225	D	0.055669	0.30073	T	-0.256554	0.13307	T	-0.138686	0.60232	T	0.0616232943441148	0.07422	T	0.997528	0.98988	D	0.25232276	0.48247	0.1336047	0.32034	0.25232276	0.48247	0.1336047	0.32033	-5.631	0.43075	T	.	.	0.273	0.50654	B	.;.;.;.	.;.;.;.	3.579759	0.50455	22.9	0.9440691715089421	0.24801	0.98907	0.88457	D	AEFBI	0.916408	0.88257	D	0.353743138427909	0.58937	4.069241	0.473597896326854	0.66245	4.927139	0.99999999999569	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.07	6.07	0.98675	7.979000	0.87701	6.156000	0.54269	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0:0.0:1.0	15.611	0.76469	363	0.84772	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05	328.43	37	chr12	49104501	.	T	G	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.545;DP=348;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.64;ReadPosRankSum=-0.314;SOR=0.815	GT:AD:DP:GQ:PL	0/1:23,15:38:99:340,0,557	9	0	1	0
chr12	50351730	50351730	G	A	exonic	FAM186A	.	nonsynonymous SNV	FAM186A:NM_001145475:exon4:c.C5102T:p.S1701L	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	.	.	0.00219649	0.0046	0	0	0	0	0.0002	0	0.0113	0.0007438	115	154602	rs201296648	0.0009	0.0009	0.0006	0.0012	0.0115	0.0009	0.0008	0.0109	0.0107	6.33e-05	5.605e-05	0	0	0	0.0042	0.0002	0.0008	0.0115	0.0005	0.0005	0.0002	0.0007	0.0110	0.0004	0.0003	0.0086	0.0078	2.407e-05	0	0	0	0	0	0	0.0002	0.0005	0.0110	0.098	0.30800	T	0.701	0.05707	T	0.806	0.45231	P	0.065	0.27321	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	3.7	0.04079	T	-1.41	0.34795	N	0.151	0.15469	-0.8956	0.48427	T	0.004	0.01435	T	9	0.0037343204	0.00069	T	.	.	.	0.026	0.05648	.	.	0.0551355673512	0.04727	0.09717193078689096	0.09648	.	.	0.248028412461	0.03563	T	0.00587	0.05316	T	-0.662967	0.00060	T	-0.714695	0.05056	T	0.0144191248480722	0.00291	T	0.346065	0.07604	T	0.03469306	0.03943	0.037097722	0.03290	0.03469306	0.03943	0.037097722	0.03290	-3.165	0.12058	T	.	.	0.107	0.24767	B	.;.	.;.	-0.748583	0.01213	0.060	0.93613420226562016	0.23478	0.01135	0.04122	N	AEFDBI	.	.	.	-1.53392419158946	0.01631	0.07130739	-1.65432445960199	0.01353	0.06111909	0.999999326465097	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.52	-5.66	0.02255	-2.637000	0.00940	-1.152000	0.06178	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4304:0.0:0.1825:0.3871	4.354	0.10605	584	0.69381	.;.	.	.	.	.	.	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	0.004348	0.000000	0.000000	0.009259	0.000000	0.000000	0.014085	0.000000	0.05	2137.43	87	chr12	50351730	.	G	A	2137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.93;DP=685;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.93;SOR=0.743	GT:AD:DP:GQ:PL	0/1:81,81:162:99:2149,0,1898	9	0	1	0
chr12	52288139	52288139	T	C	exonic	KRT81	.	nonsynonymous SNV	KRT81:NM_002281:exon5:c.A745G:p.I249V	Monilethrix, Autosomal dominant	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0229422292783	.	0.000599042	0.0012	0.0003	8.637e-05	0.0006	0.0027	0.0018	0	6.056e-05	0.0001035	16	154602	rs201895192	0.0013	0.0014	0.0013	0.0013	0.0035	0.0012	0.0012	0.0030	0.0028	0.0002	0.0004	3.826e-05	0.0035	0.0034	0.0012	0.0013	0.0010	0.0002	0.0012	0.0012	0.0011	0.0013	0.0020	0.0011	0.0010	0.0017	0.0016	0.0003	0.0022	0.0004	0	0.0008	0.0021	0.0034	0.0020	0	0	0.667	0.04602	T	0.16	0.31427	T	0.0	0.02946	B	0.004	0.10090	B	0.204200	0.16524	N	0.427421	0.971842	0.25632	N	-1.2	0.00838	N	-2.37	0.88220	D	-0.02	0.07299	N	0.035	0.01911	-0.7309	0.58918	T	0.409	0.75810	T	9	0.036604404	0.01967	T	0.022942	0.45870	T	0.089	0.25827	.	.	0.450152462452	0.44640	0.01329685643363313	0.01287	0.309907384905	0.33296	0.328389286995	0.14690	T	0.181838	0.53365	T	-0.510022	0.00502	T	-0.535467	0.18744	T	0.00190337006743257	0.00019	T	0.122288	0.00950	T	0.025754977	0.01550	0.025031991	0.00535	0.025754977	0.01550	0.025031991	0.00535	-0.82	0.00821	T	0.07529034591452598	0.03338	0.068	0.03128	B	.;.	.;.	-0.906556	0.00914	0.034	0.66253889898564511	0.08005	0.01976	0.05979	N	AEFGBHCIJ	0.052172	0.09287	N	-1.05321906949635	0.07524	0.3498312	-1.08565133696048	0.07982	0.390514	0.999999949613699	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.59	1.13	0.19758	-0.125000	0.10555	.	.	-1.366000	0.01176	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4914:0.228:0.2805	6.531	0.21526	748	0.52143	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2220.43	259	chr12	52288139	.	T	C	2220.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.892;DP=2099;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=50.87;MQRankSum=-2.357;QD=10.68;ReadPosRankSum=-1.308;SOR=0.72	GT:AD:DP:GQ:PL	0/1:113,95:208:99:2232,0,3028	9	0	1	0
chr12	52395156	52395156	C	T	exonic	KRT82	.	nonsynonymous SNV	KRT82:NM_033033:exon9:c.G1361A:p.C454Y	.	.	.	.	.	.	.	.	.	.	.	3695738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.403	0.0806134270306	7.7e-05	.	8.338e-05	0	0	0	0	3.035e-05	0	0.0005	6.47e-05	10	154602	rs375426458	1.573e-05	1.573e-05	1.497e-05	1.65e-05	0.0002	1.048e-05	8.75e-06	0.0001	0.0001	0	0	0	0	0	0	1.799e-06	3.312e-05	0.0002	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0.0002	0.005	0.63226	D	0.231	0.25061	T	0.996	0.68779	D	0.804	0.58350	P	0.000666	0.42516	D	0.000000	0.999999	0.08975	N	1.85	0.49092	L	-1.63	0.82440	D	-1.59	0.38345	N	0.466	0.50237	-0.6001	0.64813	T	0.391	0.74503	T	10	0.36352515	0.52920	T	0.080613	0.73498	D	0.403	0.71636	.	.	0.689862804968	0.68720	0.14839489091316363	0.14761	0.384708731815	0.39768	0.513746500015	0.40747	T	0.069801	0.33801	T	-0.0613377	0.42697	T	-0.0213362	0.68942	D	0.819169223308563	0.47710	D	0.682432	0.29103	T	0.41981655	0.62079	0.28863057	0.54880	0.41981655	0.62080	0.28863057	0.54879	-4.53	0.31279	T	.	.	0.110	0.21049	B	.	.	3.811768	0.54986	23.6	0.97844798204635786	0.36352	0.10121	0.15714	N	AEFBI	0.181728	0.30905	N	-0.237568197178092	0.31602	1.773697	-0.302750156030375	0.28010	1.558411	0.980720760958245	0.30169	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.73	4.73	0.59485	2.794000	0.47545	.	.	0.599000	0.40250	0.017000	0.19353	1.000000	0.68203	0.273000	0.23843	0.0:1.0:0.0:0.0	13.561	0.61250	768	0.49510	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1376.43	41	chr12	52395156	.	C	T	1376.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.177;DP=487;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.372;SOR=0.704	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1388,0,1595	9	0	1	0
chr12	52678548	52678548	C	T	exonic	KRT1	.	nonsynonymous SNV	KRT1:NM_006121:exon2:c.G800A:p.R267Q	Epidermolytic hyperkeratosis, Autosomal recessive, Autosomal dominant;Ichthyosis histrix, Curth-Macklin type, Autosomal dominant;Ichthyosis, cyclic, with epidermolytic hyperkeratosis, Autosomal dominant;Keratosis palmoplantaris striata III;Palmoplantar keratoderma, epidermolytic, Autosomal dominant;Palmoplantar keratoderma, nonepidermolytic, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	77562	not_provided	MedGen:C3661900	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.484	0.101284792308	.	.	3.295e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs60359468	5.746e-05	5.746e-05	4.9e-05	6.601e-05	0.0003	4.743e-05	4.366e-05	0.0002	0.0002	0	0	0	0	0	0	4.676e-05	8.279e-05	0.0003	3.942e-05	3.94e-05	5.138e-05	2.689e-05	0.0004	1.715e-05	1.129e-05	7.293e-05	3.03e-05	0	0	0	0	0	0	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.011	0.64786	D	0.853	0.47048	P	0.676	0.53321	P	.	.	.	.	0.84725	0.28547	N	1.485	0.37223	L	-2.72	0.90622	D	-1.37	0.33998	N	0.316	0.35620	0.071	0.83644	D	0.679	0.88911	D	9	0.3519959	0.52037	T	0.101285	0.77408	D	0.484	0.77335	.	.	0.781901537916	0.77989	0.49656838215105376	0.49577	1.01211776729	0.74815	0.366228044033	0.20289	T	0.551187	0.84806	D	-0.136411	0.30462	T	-0.133397	0.60686	T	0.303215966516054	0.25136	T	0.820318	0.47908	T	0.38948074	0.59995	0.24495788	0.49973	0.38948074	0.59995	0.24495788	0.49972	-6.236	0.48213	T	0.30282468183683203	0.40029	0.597	0.68756	P	.	.	4.561161	0.71881	25.7	0.99920161856036571	0.98721	0.39010	0.26117	N	AEFBI	0.084117	0.17046	N	0.320297966270701	0.57190	3.885578	0.31228292057101	0.56261	3.789163	0.0124456700680525	0.12328	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.98	3.12	0.34986	3.449000	0.52713	.	.	0.599000	0.40250	0.987000	0.36337	0.000000	0.08366	0.989000	0.64315	0.0:0.6163:0.0:0.3837	6.312	0.20376	710	0.56735	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod 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	.	.	.	.	.	.	.	.	0.05	977.43	36	chr12	52678548	.	C	T	977.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.18;DP=381;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=-1.254;SOR=0.727	GT:AD:DP:GQ:PL	0/1:25,36:61:99:989,0,614	9	0	1	0
chr12	54362728	54362728	C	T	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.G1124A:p.R375H	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	0.00698882	0.0032	9.656e-05	0	0	0	4.51e-05	0.0022	0.0232	0.0027813	430	154602	rs546291952	0.0013	0.0013	0.0008	0.0018	0.0207	0.0013	0.0012	0.0199	0.0195	0.0002	0.0001	0	7.557e-05	0	0.0002	1.709e-05	0.0014	0.0207	0.0007	0.0007	0.0004	0.0010	0.0206	0.0006	0.0005	0.0173	0.0161	7.225e-05	0	6.535e-05	0	0	0	0	1.47e-05	0.0005	0.0206	0.011	0.55530	D	0.0	0.92824	D	0.994	0.66517	D	0.549	0.49194	P	0.000001	0.84330	D	0.000000	0.999971	0.53665	D	2.525	0.73725	M	1.07	0.39586	T	-2.63	0.56466	D	0.586	0.60664	-0.8252	0.53607	T	0.158	0.49060	T	10	0.007068306	0.00161	T	.	.	.	0.165	0.42395	.	.	0.727144606814	0.72472	0.23873231238005257	0.23787	0.547746689658	0.51749	0.483340024948	0.36517	T	0.071059	0.34115	T	-0.370671	0.03560	T	-0.2883	0.45949	T	0.127543403285741	0.15153	T	0.905809	0.66782	D	0.27857906	0.50911	0.20067123	0.44010	0.27857906	0.50911	0.20067123	0.44009	-6.123	0.47297	T	.	.	0.113	0.22391	B	.;.	.;.	4.498825	0.70345	25.5	0.9993782169429859	0.99698	0.94710	0.62064	D	AEFBI	0.765776	0.70215	D	0.524791671061753	0.68560	5.234054	0.517783104531319	0.69186	5.324767	0.999999999297729	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.43	4.54	0.55220	5.374000	0.65920	1.766000	0.28593	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9163:0.0:0.0837	12.151	0.53356	679	0.60090	.;.	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	504.43	33	chr12	54362728	.	C	T	504.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.551;DP=380;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.88;ReadPosRankSum=-0.672;SOR=0.674	GT:AD:DP:GQ:PL	0/1:41,23:64:99:516,0,1082	9	0	1	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0237397125168	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345501624	2.755e-06	2.742e-06	1.372e-06	4.151e-06	3.627e-06	6.5e-07	4.4e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.627e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.45756	D	0.011	0.64786	D	1.0	0.90584	D	0.991	0.79672	D	0.000478	0.44119	D	0.088981	0.999998	0.58761	D	1.465	0.36909	L	-0.52	0.70717	T	0.23	0.04613	N	0.196	0.21580	-0.5516	0.66726	T	0.368	0.72788	T	10	0.3502603	0.51901	T	0.02374	0.46713	T	0.403	0.71636	0.571	0.69431	0.809007091605	0.80721	0.2760080514280935	0.27513	0.162976829088	0.18394	0.490764260292	0.37544	T	0.005184	0.04625	T	0.118655	0.66237	D	-0.0673364	0.65815	T	0.74129194021225	0.42806	D	0.725127	0.33902	T	0.11525833	0.27201	0.15893412	0.37092	0.11525833	0.27201	0.15893412	0.37091	-4.201	0.26766	T	.	.	0.081	0.08224	B	.;.	.;.	3.791423	0.54572	23.5	0.99915949351705269	0.98379	0.88390	0.48296	D	AEFBI	0.518746	0.54431	D	0.36141034936137	0.59345	4.113099	0.384589246084373	0.60614	4.250998	0.999999998215978	0.74766	0.497415	0.19182	0	0.541556	0.11502	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	5.02	5.02	0.66742	1.850000	0.38968	5.121000	0.47587	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.822000	0.38733	0.0:0.0:1.0:0.0	16.201	0.81895	686	0.59327	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3125	678.61	78	chr12	54363394	.	G	A	678.61	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-3.666;DP=970;ExcessHet=2.8389;FS=217.393;InbreedingCoeff=-0.4287;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.14;SOR=9.401	GT:AD:DP:GQ:PL	0/1:68,35:103:99:134,0,981	3	0	5	2
chr12	54962733	54962733	G	A	exonic	TESPA1	.	nonsynonymous SNV	TESPA1:NM_001351150:exon6:c.C538T:p.P180S,TESPA1:NM_001351148:exon7:c.C751T:p.P251S,TESPA1:NM_001351151:exon7:c.C406T:p.P136S,TESPA1:NM_001351152:exon7:c.C406T:p.P136S,TESPA1:NM_001351153:exon7:c.C406T:p.P136S,TESPA1:NM_001351154:exon7:c.C406T:p.P136S,TESPA1:NM_001351155:exon7:c.C406T:p.P136S,TESPA1:NM_014796:exon7:c.C751T:p.P251S,TESPA1:NM_001261844:exon8:c.C751T:p.P251S,TESPA1:NM_001098815:exon9:c.C1165T:p.P389S,TESPA1:NM_001136030:exon9:c.C1165T:p.P389S,TESPA1:NM_001351149:exon10:c.C1165T:p.P389S	.	435	1023	60	4	0	68	0.0321665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	.	0.0033	0.00479233	0.0060	0.0008	0.0034	0.0001	0.0006	0.0064	0.0056	0.0143	0.0054204	838	154602	rs79969168	0.0050	0.0050	0.0047	0.0054	0.0206	0.0049	0.0049	0.0176	0.0165	0.0005	0.0056	0.0219	5.038e-05	0.0005	0.0206	0.0043	0.0062	0.0139	0.0041	0.0041	0.0040	0.0042	0.0130	0.0038	0.0037	0.0105	0.0095	0.0008	0	0.0088	0.0205	0.0002	0.0002	0.0514	0.0042	0.0076	0.0130	0.108	0.29420	T	0.115	0.39040	T	0.009	0.15093	B	0.007	0.12992	B	0.884550	0.08731	N	0.941133	1	0.08975	N	1.3	0.32576	L	1.01	0.41058	T	-0.43	0.14390	N	0.089	0.08786	-1.0110	0.26604	T	0.047	0.20195	T	10	0.005149156	0.00112	T	.	.	.	0.057	0.16321	.	.	0.134241683229	0.13084	0.11741497963002354	0.11669	0.156741707563	0.17697	0.22092320025	0.01364	T	0.00258	0.01974	T	-0.646041	0.00077	T	-0.689738	0.06404	T	0.00151438580155197	0.00015	T	0.512349	0.16405	T	0.017450266	0.00273	0.025835352	0.00643	0.017450266	0.00273	0.025835352	0.00643	-3.329	0.14113	T	.	.	0.081	0.11893	B	.;.;.;.;.	.;.;.;.;.	-0.185425	0.03167	0.516	0.71880267870492953	0.09780	0.02568	0.07109	N	AEFBI	0.073802	0.14774	N	-0.917725297604605	0.10427	0.498243	-0.956001895449828	0.10783	0.5453844	0.126746297919489	0.17006	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.37	1.32	0.20897	-0.500000	0.06487	0.844000	0.22071	0.676000	0.76740	0.000000	0.06391	0.031000	0.21272	0.012000	0.09680	0.2879:0.0:0.4565:0.2556	2.444	0.04227	783	0.47268	.;.;.;.;.	.	.	.	.	.	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	0.018630	0.005051	0.016304	0.011696	0.000000	0.017241	0.027439	0.026515	0.15	5184.45	33	chr12	54962733	.	G	A	5184.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.22;DP=678;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.515;SOR=0.658	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1783,0,1548	7	0	3	0
chr12	56569953	56569953	C	T	exonic	RBMS2	.	nonsynonymous SNV	RBMS2:NM_002898:exon4:c.C347T:p.A116V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.0175527924345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.008	0.67890	D	0.363	0.33965	B	0.275	0.40079	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.645	0.42016	L	2.19	0.18724	T	-3.36	0.67477	D	0.734	0.74098	-1.0940	0.04899	T	0.067	0.27572	T	10	0.6144192	0.67625	D	0.017553	0.39293	T	0.236	0.53931	0.478	0.55663	0.351180957027	0.34734	0.4453915825323021	0.44457	1.01104211477	0.74777	0.76329600811	0.76421	T	0.177548	0.52788	T	0.0698262	0.60828	D	-0.137476	0.60337	T	0.979389607906342	0.72804	D	0.953905	0.82456	D	0.59481806	0.72410	0.4171486	0.65777	0.59481806	0.72412	0.4171486	0.65777	-8.359	0.63491	D	.	.	0.339	0.55842	B	.;.	.;.	4.598546	0.72809	25.9	0.99893158360783374	0.96666	0.97927	0.78187	D	AEFBI	0.840672	0.75794	D	0.335852515311519	0.57997	3.969569	0.454248449485759	0.64989	4.767464	0.999999999999996	0.74766	0.722319	0.85440	0	0.627608	0.54475	0	0.566861	0.19136	0	0.735409	0.98432	0	.	.	5.13	5.13	0.69729	7.749000	0.83987	7.432000	0.58801	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.748	0.88334	62	0.97349	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif 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	.	.	.	.	.	.	.	.	0.05	1162.43	33	chr12	56569953	.	C	T	1162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.704;DP=414;ExcessHet=0;FS=1.634;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.74;ReadPosRankSum=-0.077;SOR=0.904	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1174,0,1081	9	0	1	0
chr12	57526581	57526581	C	G	exonic	MBD6	.	nonsynonymous SNV	MBD6:NM_052897:exon7:c.C1436G:p.P479R	.	419	1086	15	2	0	19	0.00867184	.	.	.	3208947	MBD6-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0002	0.00219649	0.0007	0	0	0	0	3.212e-05	0.0013	0.0078	0.0006209	96	154602	rs377266092	0.0005	0.0005	0.0002	0.0008	0.0083	0.0005	0.0005	0.0077	0.0075	0	0.0003	5.058e-05	0	4.052e-05	0.0038	3.198e-05	0.0008	0.0083	0.0004	0.0004	0.0002	0.0005	0.0110	0.0003	0.0003	0.0086	0.0078	0	0	0	0	0	0	0	2.941e-05	0	0.0110	0.0	0.91255	D	0.0	0.92824	D	0.133	0.27236	B	0.123	0.32463	B	0.022251	0.26671	N	0.259713	0.89591	0.36058	D	0.695	0.17993	N	.	.	.	-0.86	0.23372	N	0.443	0.48134	-0.9578	0.39589	T	0.078	0.31012	T	9	0.0056697726	0.00126	T	.	.	.	0.057	0.16321	.	.	0.043077524339	0.03247	0.21878539586201898	0.21794	0.0478677844679	0.05220	0.647527337074	0.59635	T	0.038321	0.24796	T	-0.366145	0.03794	T	-0.294434	0.45309	T	0.0527051028473688	0.05968	T	0.771423	0.40183	T	0.19242324	0.40911	0.1641021	0.38033	0.19242324	0.40911	0.1641021	0.38032	-6.074	0.46894	T	.	.	0.202	0.42692	B	.;.	.;.	3.370381	0.46573	22.3	0.92364998403707177	0.21769	0.71687	0.35121	D	AEFDGBCI	0.208870	0.33491	N	-0.473000704150568	0.22967	1.230126	-0.335881417086727	0.26950	1.492071	0.999993563667077	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	3.96	3.06	0.34374	1.028000	0.29734	4.639000	0.44147	-0.218000	0.08083	0.903000	0.31499	1.000000	0.68203	0.958000	0.51230	0.1946:0.8054:0.0:0.0	10.506	0.44024	410	0.82135	.;.	.	.	.	.	.	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	0	0	1	0	0.003021	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.003788	0.15	1496.45	37	chr12	57526581	.	C	G	1496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.718;DP=386;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.201;SOR=0.741	GT:AD:DP:GQ:PL	0/1:20,23:43:99:531,0,494	7	0	3	0
chr12	57616379	57616379	C	T	exonic	ARHGEF25	.	stopgain	ARHGEF25:NM_001347933:exon13:c.C1426T:p.Q476X,ARHGEF25:NM_182947:exon14:c.C1516T:p.Q506X,ARHGEF25:NM_001111270:exon15:c.C1633T:p.Q545X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.774e-05	9.634e-05	0	0	0	1.5e-05	0	0.0003	4.53e-05	7	154602	rs773245828	1.437e-05	1.436e-05	6.806e-06	2.2e-05	0.0002	9.23e-06	7.84e-06	6.246e-05	4.757e-05	2.987e-05	0	0	2.519e-05	0	0.0002	3.597e-06	6.623e-05	0.0001	6.573e-06	6.567e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.081419	0.20867	N	0.252152	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.154	0.17278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161681	0.70356	D	0.294791	0.87953	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.451107	0.96530	36	0.95124674450130686	0.26227	0.30384	0.24068	N	AEFDBI	0.142532	0.26499	N	-0.0125216582496064	0.41288	2.467004	-0.341773788268864	0.26764	1.480469	0.97441390350047	0.29540	0.609539	0.35627	0	0.693144	0.66847	0	0.493711	0.08198	1	0.579976	0.35079	0	.	.	4.79	1.7	0.23359	1.800000	0.38469	0.076000	0.14327	-0.224000	0.07868	0.735000	0.28974	0.002000	0.18203	0.243000	0.23080	0.5616:0.4384:0.0:0.0	10.762	0.45467	286	0.88678	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	854.43	34	chr12	57616379	.	C	T	854.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.53;DP=377;ExcessHet=0;FS=9.871;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.26;ReadPosRankSum=-0.75;SOR=1.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,23:56:99:0|1:57616379_C_T:866,0,1316:57616379	9	0	1	0
chr12	57765390	57765390	C	G	exonic	CYP27B1	.	nonsynonymous SNV	CYP27B1:NM_000785:exon3:c.G496C:p.V166L	Vitamin D-dependent rickets, type I, Autosomal recessive	0	1505	17	0	0	17	0.00561612	.	.	.	870243	Vitamin_D-dependent_rickets,_type_1A|not_provided|Vitamin_D-dependent_rickets,_type_1	MONDO:MONDO:0020723,MedGen:CN283242,OMIM:264700|MedGen:C3661900|MONDO:MONDO:0009924,MedGen:C0268689,Orphanet:289157	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.101	.	0.0017	0.0145767	0.0117	0.0005	0.0038	0.0032	0.0002	0.0019	0.0241	0.0678	0.0093142	1440	154602	rs8176344	0.0060	0.0060	0.0044	0.0077	0.0631	0.0059	0.0059	0.0616	0.0611	0.0008	0.0032	3.832e-05	0.0015	0.0005	0.0023	0.0023	0.0085	0.0631	0.0039	0.0039	0.0031	0.0047	0.0674	0.0036	0.0035	0.0614	0.0591	0.0011	0	0.0024	0	0.0040	0.0008	0	0.0020	0.0104	0.0674	0.569	0.06204	T	0.45	0.12957	T	0.015	0.17086	B	0.071	0.27960	B	0.000222	0.47286	D	0.164208	0.760797	0.29541	N	1.2	0.30300	L	-0.2	0.66113	T	0.04	0.06488	N	0.148	0.15046	-0.9125	0.46543	T	0.151	0.47944	T	10	0.002989173	0.00049	T	.	.	.	0.101	0.28911	0.262	0.20631	.	.	0.4677598049558813	0.46694	0.467334885354	0.46115	0.685787141323	0.65100	T	0.135799	0.46781	T	-0.391921	0.02614	T	-0.28863	0.45916	T	0.0355887090034149	0.02910	T	0.825917	0.48908	T	0.1344374	0.31235	0.15843023	0.36997	0.16172789	0.36201	0.23358274	0.48550	-4.927	0.36037	T	0.1796851102065633	0.23089	0.159	0.35204	B	.	.	2.319049	0.29694	18.20	0.68859940478482518	0.08789	0.82424	0.41654	D	ALL	0.453646	0.50669	N	-0.275588801861829	0.30094	1.674845	-0.142707017944204	0.33690	1.929773	0.99999999974257	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.618803	0.45993	0	.	.	5.06	5.06	0.67838	2.594000	0.45853	5.975000	0.52067	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.057000	0.15750	0.0:0.9127:0.0:0.0873	10.861	0.46034	182	0.92924	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008577	0.005102	0.000000	0.005882	0.000000	0.000000	0.006135	0.034091	0.05	1500.43	35	chr12	57765390	.	C	G	1500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.824;DP=461;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.82;SOR=0.725	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1512,0,1663	9	0	1	0
chr12	66331562	66331562	A	G	exonic	HELB	.	nonsynonymous SNV	HELB:NM_001370285:exon12:c.A3079G:p.T1027A,HELB:NM_033647:exon12:c.A3079G:p.T1027A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00266241839731	7.7e-05	.	4.126e-05	0	8.648e-05	0.0002	0	1.503e-05	0	6.058e-05	3.88e-05	6	154602	rs368164516	3.695e-05	3.694e-05	3.676e-05	3.713e-05	0.0006	2.894e-05	2.593e-05	0.0004	0.0003	0.0002	2.236e-05	0	0.0006	0	0	1.259e-05	0.0001	4.637e-05	1.97e-05	1.97e-05	2.569e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0.0002	0	0	2.939e-05	0	0	0.142	0.25457	T	0.278	0.21812	T	0.001	0.07471	B	0.001	0.04355	B	0.501677	0.11942	N	0.761152	1	0.08975	N	0.975	0.24501	L	2.72	0.11947	T	-0.69	0.19720	N	0.062	0.03392	-0.9717	0.36841	T	0.019	0.07939	T	9	0.03390646	0.01580	T	0.002662	0.05434	T	0.011	0.01250	.	.	0.0401082797425	0.02173	0.19860051586845942	0.19777	0.157388292501	0.17771	0.23448613286	0.02316	T	0.002329	0.01729	T	-0.608329	0.00130	T	-0.791589	0.02121	T	0.0231343791970195	0.01039	T	.	.	.	0.029038047	0.02334	0.029832449	0.01366	0.029038047	0.02334	0.029832449	0.01366	-3.59	0.17713	T	.	.	0.067	0.02609	B	.	.	-1.693068	0.00198	0.003	0.29877239688059032	0.01606	0.01337	0.04602	N	AEFBI	0.028941	0.02643	N	-1.74002815453562	0.00709	0.03061599	-1.79656023137305	0.00770	0.03434735	0.765501359773788	0.23580	0.615465	0.37627	0	0.577304	0.33150	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.97	-4.93	0.02839	-1.452000	0.02492	-0.717000	0.07722	-2.317000	0.00317	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3758:0.1359:0.4883:0.0	8.089	0.29948	662	0.61715	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2130.43	44	chr12	66331562	.	A	G	2130.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.22;DP=542;ExcessHet=0;FS=5.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=0.292;SOR=0.786	GT:AD:DP:GQ:PL	0/1:112,86:198:99:2142,0,2628	9	0	1	0
chr12	66432560	66432560	T	G	exonic	GRIP1	.	nonsynonymous SNV	GRIP1:NM_001178074:exon13:c.A1600C:p.I534L,GRIP1:NM_001366723:exon13:c.A1675C:p.I559L,GRIP1:NM_001366724:exon13:c.A1678C:p.I560L,GRIP1:NM_001379347:exon13:c.A1678C:p.I560L,GRIP1:NM_001379348:exon13:c.A1675C:p.I559L,GRIP1:NM_001379349:exon13:c.A1603C:p.I535L,GRIP1:NM_001379351:exon13:c.A1600C:p.I534L,GRIP1:NM_021150:exon13:c.A1600C:p.I534L,GRIP1:NM_001366722:exon14:c.A1756C:p.I586L,GRIP1:NM_001379345:exon14:c.A1834C:p.I612L,GRIP1:NM_001379346:exon14:c.A1756C:p.I586L	Fraser syndrome, Autosomal recessive	46	1475	1	0	0	1	0.000338868	.	.	.	260034	GRIP1-related_disorder|Fraser_syndrome_3|not_specified|not_provided	.|MONDO:MONDO:0054739,MedGen:C4540040,OMIM:617667|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.092	0.011833627667	0.0011	0.00159744	0.0012	0.0003	0.0015	0	0	0.0018	0	0.0006	0.0013842	214	154602	rs189438534	0.0023	0.0023	0.0024	0.0022	0.0028	0.0022	0.0022	0.0027	0.0027	0.0005	0.0011	7.707e-05	0	3.822e-05	0.0004	0.0028	0.0017	0.0005	0.0015	0.0015	0.0016	0.0013	0.0024	0.0013	0.0012	0.0021	0.0020	0.0006	0	0.0013	0	0	0	0	0.0024	0.0033	0.0010	0.084	0.34982	T	0.145	0.36233	T	0.032	0.23728	B	0.472	0.58097	P	0.000000	0.84330	D	0.000000	0.999983	0.54805	D	1.47	0.36993	L	1.58	0.29085	T	-1.55	0.37566	N	0.618	0.70175	-0.8926	0.48705	T	0.121	0.42230	T	9	0.013707876	0.00290	T	0.011834	0.29841	T	0.177	0.44549	0.471	0.54537	0.582802052142	0.57952	0.6204692298215717	0.61979	0.796113115441	0.66047	0.796547651291	0.81437	T	0.18903	0.54312	T	-0.178476	0.23964	T	-0.0343822	0.68078	D	0.0231282603619291	0.01039	T	0.946205	0.82322	D	0.3468109	0.56817	0.27634597	0.53579	0.34760067	0.56880	0.26122522	0.51896	-9.54	0.71107	D	0.2590036289553488	0.34990	0.331	0.56416	B	.;.;.;.;.	.;.;.;.;.	4.243530	0.64354	24.7	0.98981706264036484	0.49740	0.92075	0.54889	D	AEFBI	0.642672	0.61957	D	0.0991218406937485	0.46421	2.882742	0.268389928392598	0.53702	3.537949	0.998754134447093	0.37602	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.84	5.84	0.93373	6.302000	0.72759	7.730000	0.67710	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:0.0:1.0	15.876	0.78948	915	0.20917	.;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ domain;PDZ domain|PDZ domain|PDZ 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	.	.	.	.	.	.	.	.	0.05	500.43	35	chr12	66432560	.	T	G	500.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.859;DP=373;ExcessHet=0;FS=4.062;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.62;ReadPosRankSum=0.927;SOR=1.414	GT:AD:DP:GQ:PL	0/1:30,22:52:99:512,0,709	9	0	1	0
chr12	68302665	68302665	G	A	exonic	MDM1	.	stopgain	MDM1:NM_001354974:exon11:c.C1087T:p.R363X,MDM1:NM_001205028:exon12:c.C1822T:p.R608X,MDM1:NM_001354970:exon12:c.C1807T:p.R603X,MDM1:NM_001368282:exon12:c.C1117T:p.R373X,MDM1:NM_017440:exon12:c.C1927T:p.R643X,MDM1:NM_001354969:exon13:c.C1957T:p.R653X,MDM1:NM_001354972:exon13:c.C1117T:p.R373X,MDM1:NM_001354973:exon13:c.C1117T:p.R373X,MDM1:NM_001354971:exon14:c.C1117T:p.R373X	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7e-05	.	9.078e-05	0.0005	8.702e-05	0	0	1.501e-05	0	0.0002	7.12e-05	11	154602	rs147627177	3.216e-05	3.215e-05	2.587e-05	3.851e-05	0.0008	2.478e-05	2.221e-05	0.0006	0.0005	0.0008	2.236e-05	0	0	0	0.0002	3.598e-06	8.281e-05	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0004	0.0003	0.0005	0	6.55e-05	0	0	0	0	2.941e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.047063	0.23379	N	0.472153	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.242	0.27316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210491	0.74876	D	0.428742	0.93010	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	7.435770	0.96514	36	0.9959924320476925	0.74101	0.07053	0.13079	N	AEFBI	0.072795	0.14540	N	0.414936253841947	0.62242	4.437068	0.107702361427582	0.44940	2.766306	0.00833582406647327	0.11656	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.78	2.88	0.32617	0.829000	0.27102	3.538000	0.38989	0.676000	0.76740	0.005000	0.17040	1.000000	0.68203	0.766000	0.36367	0.1636:0.0:0.676:0.1603	5.899	0.18198	906	0.23090	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	322.43	34	chr12	68302665	.	G	A	322.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.39;DP=342;ExcessHet=0;FS=3.089;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.71;ReadPosRankSum=0.361;SOR=1.383	GT:AD:DP:GQ:PL	0/1:23,14:37:99:334,0,483	9	0	1	0
chr12	70635944	70635944	G	A	exonic	PTPRB	.	nonsynonymous SNV	PTPRB:NM_001109754:exon2:c.C178T:p.L60F,PTPRB:NM_001330204:exon2:c.C178T:p.L60F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0214511850333	8e-05	.	8.491e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs372428385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-06	6.567e-06	0	1.346e-05	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.171	0.91255	T	0.141	0.47097	T	0.069	0.33860	B	0.063	0.32896	B	.	.	.	.	0.949216	0.26544	N	.	.	.	0.89	0.45636	T	-0.76	0.25770	N	0.274	0.33469	-1.0714	0.09108	T	0.085	0.33099	T	9	0.1482369	0.28075	T	0.021451	0.44220	T	0.034	0.08419	.	.	0.176862962021	0.17281	0.6354880301755313	0.63482	0.53492471946	0.50878	0.479680240154	0.36012	T	0.059314	0.33423	T	-0.220665	0.17902	T	-0.554746	0.16873	T	0.932623505592346	0.59881	D	0.69863	0.31478	T	.	.	.	.	.	.	.	.	-5.511	0.41971	T	.	.	0.473	0.64929	A	.;.;.;.	.;.;.;.	3.602507	0.50895	23.0	0.99859623691552357	0.93820	0.85685	0.44845	D	AEFDBHCI	0.862088	0.78030	D	-0.0241969775281813	0.40761	2.42629	0.155470530023144	0.47434	2.973584	0.999999999861969	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.00508	0.00061	3	.	.	6.04	5.15	0.70287	4.423000	0.59610	6.674000	0.56288	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.896000	0.43308	0.0711:0.0:0.9289:0.0	14.440	0.66887	670	0.60992	.;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin domain|Ricin B, lectin domain;Ricin B, lectin 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	.	.	.	.	.	.	.	.	0.25	339.01	50	chr12	70635944	.	G	A	339.01	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-3.055;DP=680;ExcessHet=1.5895;FS=383.437;InbreedingCoeff=-0.3405;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=1.16;ReadPosRankSum=0.752;SOR=9.735	GT:AD:DP:GQ:PL	0/1:43,26:72:99:143,0,613	4	0	4	2
chr12	75321474	75321475	TA	-	exonic	CAPS2	.	stopgain	CAPS2:NM_001355026:exon2:c.135_136del:p.Y45*,CAPS2:NM_001286547:exon5:c.300_301del:p.Y100*,CAPS2:NM_001355024:exon5:c.300_301del:p.Y100*,CAPS2:NM_001355027:exon5:c.192_193del:p.Y64*,CAPS2:NM_001355025:exon6:c.192_193del:p.Y64*,CAPS2:NM_032606:exon6:c.450_451del:p.Y150*,CAPS2:NM_001355023:exon7:c.414_415del:p.Y138*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0006	0	0	0.0016	0	0.0013	0	0.0001	0.0001035	16	154602	rs562235427	0.0004	0.0004	0.0004	0.0004	0.0072	0.0003	0.0003	0.0065	0.0062	0	0	0.0078	0.0072	0	0	3.07e-05	0.0004	0.0001	0.0003	0.0003	0.0004	0.0002	0.0041	0.0002	0.0002	0.0027	0.0023	0	0	0	0.0063	0.0041	0	0	2.943e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1550.39	35	chr12	75321473	.	CTA	C	1550.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.078;DP=413;ExcessHet=0;FS=0.781;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.49;ReadPosRankSum=-0.534;SOR=0.643	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1562,0,2102	9	0	1	0
chr12	80355790	80355790	G	A	exonic	OTOGL	.	nonsynonymous SNV	OTOGL:NM_001378609:exon47:c.G5621A:p.G1874D,OTOGL:NM_173591:exon47:c.G5621A:p.G1874D,OTOGL:NM_001378610:exon50:c.G5621A:p.G1874D,OTOGL:NM_001368062:exon51:c.G5486A:p.G1829D	Deafness, autosomal recessive 84B, Autosomal recessive	8	1490	23	1	0	25	0.00831947	.	.	.	491714	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0118214722881	0.0003	0.000199681	0.0003	0	8.732e-05	0	0	0.0003	0.0011	0.0012	0.0002587	40	154602	rs377364362	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0017	0.0014	0	6.712e-05	0	2.52e-05	3.745e-05	0.0028	0.0001	0.0004	0.0012	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	9.701e-05	0.0002	0.0001	2.407e-05	0	0.0001	0	0	0	0.0034	0.0003	0	0.0006	0.053	0.38863	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	0.999564	0.20970	N	.	.	.	2.5	0.14408	T	-2.25	0.50337	N	0.533	0.56145	-1.0140	0.25656	T	0.021	0.08639	T	7	0.033018142	0.01467	T	0.011821	0.29821	T	0.120	0.33359	.	.	0.154104182512	0.14974	0.48682869408756885	0.48602	0.122508711524	0.13806	0.471455991268	0.34881	T	.	.	.	-0.447438	0.01169	T	-0.456023	0.27033	T	0.0750707633783485	0.09345	T	0.775922	0.40781	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.41813	B	.;.;.	.;.;.	3.771530	0.54171	23.5	0.99743260327228012	0.83703	0.76583	0.37571	D	AEFBCI	0.494054	0.53001	N	0.0124108583596346	0.42420	2.555472	0.123666918447924	0.45762	2.833674	0.990502649650902	0.32175	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.447301	0.06993	0	.	.	5.03	4.08	0.46880	4.133000	0.57743	8.102000	0.76560	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.946000	0.48989	0.0:0.2193:0.661:0.1196	9.908	0.40555	651	0.62880	.;.;.	.	.	.	.	.	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	0.002596	0.000000	0.004076	0.003521	0.000000	0.000000	0.003067	0.003788	0.05	1171.43	34	chr12	80355790	.	G	A	1171.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.835;DP=439;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.818;SOR=0.677	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1183,0,1654	9	0	1	0
chr12	103956630	103956630	C	T	splicing	C12orf73	NM_001135570:exon2:c.108+1G>A	.	.	.	423	1098	1	0	0	1	0.000455166	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0802530744224	0.0026	0.00219649	0.0020	0	0.0074	0	0.0082	0.0030	0.0042	0	0.0009573	148	154602	rs116995648	0.0041	0.0039	0.0043	0.0038	0.0048	0.0040	0.0040	0.0047	0.0047	0.0004	0.0021	0	0	0.0046	0.0011	0.0048	0.0033	0.0001	0.0026	0.0026	0.0025	0.0027	0.0039	0.0024	0.0023	0.0035	0.0033	0.0008	0	0.0024	0	0	0.0058	0	0.0039	0.0019	0	0.062	0.36912	T	0.163	0.31125	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.31	0.04022	N	0.459	0.49602	-0.4619	0.70004	T	0.223	0.58703	T	5	0.007425219	0.00169	T	0.080253	0.73418	D	0.098	0.28162	.	.	0.0297737177859	0.01360	.	.	.	.	.	.	.	0.010864	0.09766	T	0.122434	0.66615	D	0.405704	0.92296	D	0.0575271689408536	0.06773	T	0.391261	0.09725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.549	0.66760	A	.	.	5.479153	0.91359	32	0.99545712609875381	0.70773	0.97571	0.75624	D	AEFDGBHCI	0.790794	0.71958	D	1.06875601101388	0.97511	16.25434	0.900817201670537	0.95608	13.78688	1.0	0.98316	0.266657	0.04791	1	0.484254	0.07192	0	0.231153	0.04653	2	0.249971	0.05119	0	.	.	5.06	5.06	0.67838	6.066000	0.70822	7.398000	0.58557	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.420	0.90531	897	0.25382	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1245.43	34	chr12	103956630	.	C	T	1245.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.709;DP=408;ExcessHet=0;FS=0.763;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.24;SOR=0.599	GT:AD:DP:GQ:PL	0/1:43,54:97:99:1257,0,986	9	0	1	0
chr12	110136788	110136788	G	T	exonic	IFT81	.	nonsynonymous SNV	IFT81:NM_001143779:exon8:c.G709T:p.V237L,IFT81:NM_001347946:exon8:c.G709T:p.V237L,IFT81:NM_014055:exon8:c.G709T:p.V237L,IFT81:NM_031473:exon8:c.G709T:p.V237L	.	.	.	.	.	.	.	.	.	.	.	994894	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.00582367240055	.	0.000199681	1.761e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs551236440	5.492e-06	6.157e-06	2.733e-06	8.278e-06	0.0002	2.36e-06	1.71e-06	1.588e-05	9.33e-06	0	0	0	0	0	0.0002	9.027e-07	3.321e-05	4.659e-05	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0034	0	0	0.0002	0.077	0.45756	T	0.004	0.74150	D	0.571	0.38591	P	0.21	0.37304	B	0.000000	0.84330	D	0.050539	0.687794	0.33296	D	0	0.06538	N	1.54	0.30133	T	-1.0	0.27876	N	0.348	0.39254	-1.0777	0.07801	T	0.047	0.20275	T	10	0.1306377	0.24861	T	0.005824	0.15131	T	0.111	0.31313	0.224	0.14813	0.33440975612	0.33058	0.16083344008180214	0.16004	0.173405272306	0.19527	0.478821784258	0.35895	T	0.02826	0.20514	T	-0.309671	0.07777	T	-0.478997	0.24554	T	0.544242918491364	0.34262	D	0.956971	0.83666	D	0.36732692	0.58386	0.27484205	0.53416	0.36732692	0.58387	0.27484205	0.53415	-3.897	0.23594	T	0.19150012398479524	0.25128	0.104	0.29088	B	.;.;.;.	.;.;.;.	3.918522	0.57191	23.8	0.99684722577076512	0.79507	0.98976	0.89428	D	AEFBI	0.863487	0.78204	D	0.19518748872392	0.50968	3.281921	0.378763765821399	0.60257	4.211328	0.999999990171766	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.27	5.27	0.73797	8.736000	0.91258	8.522000	0.77426	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.241	0.93871	737	0.53483	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	366.43	34	chr12	110136788	.	G	T	366.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.55;DP=326;ExcessHet=0;FS=1.449;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=0.466;SOR=1.061	GT:AD:DP:GQ:PL	0/1:12,17:29:99:378,0,210	9	0	1	0
chr12	110628923	110628923	G	A	exonic	TCTN1	.	nonsynonymous SNV	TCTN1:NM_001319682:exon4:c.G461A:p.S154N	Joubert syndrome 13, Autosomal recessive	.	.	.	.	.	.	.	0.9819	0.712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0426171191547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	3.42e-06	5.448e-06	1.376e-06	4.497e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.06109	T	0.302	0.32608	B	0.121	0.32300	B	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.157	0.16308	.	.	.	.	.	.	.	0.15333271	0.28945	T	0.042617	0.60557	D	.	.	.	.	0.614370161906	0.61125	.	.	.	.	.	.	.	.	.	.	-0.33182	0.05975	T	-0.714413	0.05070	T	.	.	.	0.284972	0.05045	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27613	B	.	.	2.472231	0.31864	18.87	0.68165143318971155	0.08575	0.15893	0.19132	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.828579610106998	0.24652	0.106106	0.02776	0	0.097471	0.02872	0	0.083675	0.02720	0	0.109871	0.03346	0	.	.	5.28	1.32	0.20897	1.425000	0.34467	6.317000	0.55438	0.672000	0.70159	0.932000	0.32345	1.000000	0.68203	0.839000	0.39591	0.34:0.1612:0.4988:0.0	4.316	0.10433	186	0.92733	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	296.11	94	chr12	110628923	.	G	A	296.11	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.906;DP=1262;ExcessHet=2.8389;FS=190.894;InbreedingCoeff=-0.329;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.048;SOR=10.732	GT:AD:DP:GQ:PL	0/1:111,51:162:99:132,0,1428	5	0	5	0
chr12	110898984	110898984	G	C	exonic	CCDC63	.	nonsynonymous SNV	CCDC63:NM_001286244:exon8:c.G964C:p.G322R,CCDC63:NM_001286243:exon9:c.G1081C:p.G361R,CCDC63:NM_152591:exon10:c.G1201C:p.G401R	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0042602852626	.	.	1.652e-05	0	0	0	0	3.002e-05	0	0	1.29e-05	2	154602	rs116589141	2.054e-06	2.052e-06	2.724e-06	1.376e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	0	3.314e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.237	0.17881	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.828335	0.06926	N	1.081060	1	0.08975	N	-1.78	0.00307	N	2.03	0.20959	T	2.23	0.00314	N	0.146	0.15187	-0.8828	0.49537	T	0.011	0.04088	T	10	0.019711167	0.00444	T	0.00426	0.10310	T	0.033	0.08068	0.294	0.25720	0.0482279557977	0.04254	0.4559833808952731	0.45516	0.0583062659332	0.06459	0.265920877457	0.05616	T	0.005012	0.05598	T	-0.391959	0.02613	T	-0.785312	0.02297	T	0.0704515230100885	0.08714	T	0.219778	0.02813	T	0.0387586	0.05224	0.071664274	0.15372	0.0387586	0.05224	0.071664274	0.15371	-1.951	0.03640	T	.	.	0.059	0.02038	B	.;.;.	.;.;.	-0.377577	0.02298	0.242	0.38014214992291601	0.02539	0.01123	0.04093	N	AEFI	0.026759	0.02066	N	-2.07099423376929	0.00148	0.006345566	-2.0804468919051	0.00205	0.009050337	0.864385628402124	0.25288	0.568482	0.32641	0	0.547309	0.14657	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.49	-8.98	0.00647	0.046000	0.13919	0.458000	0.18589	-1.545000	0.00970	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2777:0.5795:0.1429:0.0	9.437	0.37812	152	0.94023	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1478.14	35	chr12	110898984	.	G	C	1478.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.716;DP=407;ExcessHet=0.2348;FS=3.464;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.63;ReadPosRankSum=1.02;SOR=0.426	GT:AD:DP:GQ:PL	0/1:26,24:50:99:546,0,563	8	0	2	0
chr12	111712604	111712604	C	T	exonic	ACAD10	.	nonsynonymous SNV	ACAD10:NM_025247:exon6:c.C797T:p.P266L,ACAD10:NM_001136538:exon7:c.C890T:p.P297L	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.210	.	0.0002	0.00399361	0.0019	0	0.0002	0.0003	0	0.0003	0.0022	0.0124	0.0016753	259	154602	rs145407775	0.0009	0.0009	0.0005	0.0012	0.0109	0.0008	0.0008	0.0104	0.0101	2.987e-05	0.0002	0.0003	0.0002	1.872e-05	0.0028	0.0002	0.0011	0.0109	0.0006	0.0006	0.0005	0.0007	0.0120	0.0005	0.0005	0.0095	0.0087	4.815e-05	0	0.0005	0	0.0004	0	0.0034	0.0003	0	0.0120	0.004	0.72154	D	0.009	0.76473	D	0.858	0.47274	P	0.196	0.36635	B	0.019385	0.27268	N	0.383881	0.999999	0.81001	D	2.76	0.80626	M	1.55	0.29866	T	-6.95	0.97995	D	0.475	0.53884	-0.8197	0.53952	T	0.161	0.49648	T	10	0.004577875	0.00095	T	.	.	.	0.210	0.50028	.	.	0.58324101046	0.57996	0.19678787591515753	0.19595	0.612876557158	0.55879	0.425860136747	0.28642	T	0.587476	0.86585	D	-0.377863	0.03214	T	-0.306156	0.44072	T	0.166104845988205	0.18311	T	0.920008	0.71084	D	0.14627272	0.33493	0.19618455	0.43335	0.14627272	0.33493	0.19618455	0.43334	-9.631	0.71672	D	.	.	0.238	0.54710	B	.;.;.;.	.;.;.;.	4.194203	0.63243	24.6	0.99823446212293299	0.90590	0.96422	0.69061	D	AEFDBI	0.391389	0.46985	N	0.21488412218087	0.51920	3.369699	0.161607456723476	0.47759	3.001454	0.976038998431543	0.29688	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.03	5.03	0.67015	5.284000	0.65431	7.539000	0.60051	0.581000	0.30040	0.998000	0.41325	1.000000	0.68203	0.688000	0.33778	0.0:1.0:0.0:0.0	17.918	0.88878	517	0.74620	.;.;.;.	.	.	.	.	.	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	0.004036	0.000000	0.001359	0.002924	0.000000	0.000000	0.003067	0.015152	0.05	566.43	34	chr12	111712604	.	C	T	566.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.594;DP=369;ExcessHet=0;FS=2.347;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=-2.154;SOR=1.125	GT:AD:DP:GQ:PL	0/1:27,26:53:99:578,0,623	9	0	1	0
chr12	112883321	112883321	G	A	exonic	RPH3A	.	nonsynonymous SNV	RPH3A:NM_001347955:exon15:c.G1154A:p.R385Q,RPH3A:NM_014954:exon15:c.G1343A:p.R448Q,RPH3A:NM_001143854:exon16:c.G1355A:p.R452Q,RPH3A:NM_001347952:exon16:c.G1355A:p.R452Q,RPH3A:NM_001347953:exon16:c.G1355A:p.R452Q,RPH3A:NM_001347954:exon16:c.G1355A:p.R452Q	.	.	.	.	.	.	.	.	.	.	.	4055367	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.515	0.0667382511855	.	.	1.671e-05	0	0	0	0	1.515e-05	0	6.203e-05	1.29e-05	2	154602	rs767497432	5.473e-06	5.472e-06	5.445e-06	5.5e-06	1.16e-05	2.35e-06	1.7e-06	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	6.623e-05	1.16e-05	3.287e-05	3.284e-05	2.57e-05	4.038e-05	0.0003	1.261e-05	7.98e-06	8.881e-05	5.389e-05	2.415e-05	0	0.0003	0	0	0	0	0	0	0	0.104	0.30656	T	0.194	0.28860	T	0.998	0.77913	D	0.857	0.61067	P	0.000038	0.55875	D	0.000000	0.999992	0.58761	D	1.585	0.39878	L	-0.43	0.69657	T	-2.43	0.53258	N	0.743	0.74735	-0.3464	0.73658	T	0.360	0.72163	T	10	0.79450893	0.78949	D	0.066738	0.69964	D	0.515	0.79279	0.708	0.84418	0.625953378006	0.62290	0.4616818211851556	0.46086	0.997764433061	0.74304	0.775253772736	0.78213	T	0.307355	0.67951	T	0.0288302	0.55567	T	-0.0957338	0.63726	T	0.983204662799835	0.74958	D	0.882812	0.60466	D	0.231122	0.45879	0.2083395	0.45131	0.231122	0.45879	0.2083395	0.45130	-10.764	0.78348	D	0.7023406470652278	0.78148	0.751	0.75080	P	.;.;.;.;.	.;.;.;.;.	6.170267	0.94717	34	0.99953925859113724	0.99963	0.96455	0.69224	D	AEFBI	0.866012	0.78530	D	0.631396340693566	0.75168	6.258806	0.660655364220383	0.79405	7.075825	0.999664358679724	0.41534	0.516011	0.20929	0	0.610034	0.51514	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.43	5.43	0.79006	6.505000	0.73620	11.834000	0.97615	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.957000	0.51019	0.0:0.0:1.0:0.0	18.029	0.89200	88	0.96322	C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain;.;C2 domain|C2 domain|C2 domain;C2 domain|C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	2028.43	35	chr12	112883321	.	G	A	2028.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.43;DP=525;ExcessHet=0;FS=1.084;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.587;SOR=0.69	GT:AD:DP:GQ:PL	0/1:115,90:205:99:2040,0,2616	9	0	1	0
chr12	119156703	119156720	AGCCGGAGCCGGAGCAGG	-	exonic	SRRM4	.	nonframeshift deletion	SRRM4:NM_194286:exon13:c.1741_1758del:p.R590_S595del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.592e-06	1.026e-05	2.827e-06	1.451e-05	0.0002	4.58e-06	3.62e-06	9.113e-05	6.506e-05	3.17e-05	0.0002	0	0	2.095e-05	0.0002	9.267e-07	0	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	887.1	33	chr12	119156702	.	CAGCCGGAGCCGGAGCAGG	C	887.1	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.05;DP=279;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=20.63;ReadPosRankSum=1.18;SOR=0.533	GT:AD:DP:GQ:PL	0/1:12,13:25:99:476,0,464	8	0	2	0
chr12	119156707	119156707	G	0	exonic	SRRM4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	298.74	34	chr12	119156707	.	G	*	298.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.835;DP=290;ExcessHet=0.7463;FS=0;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.93;ReadPosRankSum=-1.07;SOR=0.61	GT:AD:DP:GQ:PL	0/1:12,13:25:99:476,0,464	8	0	2	0
chr12	120739317	120739317	A	G	exonic	ACADS	.	nonsynonymous SNV	ACADS:NM_000017:exon10:c.A1108G:p.M370V,ACADS:NM_001302554:exon10:c.A1096G:p.M366V	Acyl-CoA dehydrogenase, short-chain, deficiency of, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	200245	Deficiency_of_butyryl-CoA_dehydrogenase|Type_2_diabetes_mellitus|not_provided	MONDO:MONDO:0008722,MedGen:C0342783,OMIM:201470,Orphanet:26792|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	.	.	.	.	.	.	.	.	0.923	.	.	0.00319489	0.0022	0	0.0002	0	0.0002	0.0002	0.0070	0.0143	0.0018564	287	154602	rs566325901	0.0009	0.0009	0.0006	0.0013	0.0128	0.0009	0.0009	0.0122	0.0120	5.975e-05	0.0001	0.0001	0	9.547e-05	0.0031	0.0002	0.0008	0.0128	0.0005	0.0005	0.0003	0.0008	0.0145	0.0004	0.0004	0.0118	0.0108	0	0	0.0001	0	0	0	0	0.0001	0	0.0145	0.051	0.53172	T	0.028	0.54934	D	0.818	0.45651	P	0.291	0.40706	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.595	0.15482	N	-3.85	0.95859	D	-3.83	0.72120	D	0.948	0.95608	0.656	0.92626	D	0.764	0.91953	D	10	0.028777868	0.01008	T	.	.	.	0.923	0.98079	.	.	0.970739665433	0.97042	0.9502718581226505	0.95010	0.770922189815	0.64756	0.717661619186	0.69705	T	0.875532	0.97347	D	0.157138	0.69935	D	0.463972	0.93882	D	0.0599859771721227	0.07166	T	0.983668	0.94607	D	0.7723314	0.82188	0.6916848	0.81856	0.82393956	0.85488	0.72276574	0.83629	-7.831	0.59913	D	0.5274915690359021	0.59883	0.162	0.35705	B	.;.	.;.	4.633774	0.73696	26.0	0.99358178166899647	0.60904	0.98346	0.81852	D	AEFDBI	0.964973	0.98721	D	0.374761369312287	0.60058	4.190697	0.432990466616109	0.63633	4.60088	0.999996781295101	0.74766	0.700653	0.57754	0	0.643519	0.57511	0	0.717052	0.78885	0	0.655142	0.61905	0	.	.	4.74	4.74	0.59717	8.964000	0.92969	11.132000	0.86827	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	14.260	0.65626	503	0.75780	Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site;Acyl-CoA dehydrogenase/oxidase C-terminal|Acyl-CoA dehydrogenase, conserved site	.	.	.	.	.	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	0.004532	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.026515	0.1	2457.14	34	chr12	120739317	.	A	G	2457.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.057;DP=537;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.87;ReadPosRankSum=0.386;SOR=0.691	GT:AD:DP:GQ:PL	0/1:68,52:120:99:1087,0,1557	8	0	2	0
chr12	122334026	122334026	C	A	splicing	CLIP1	NM_198240:exon12:c.2572+1G>T;NM_002956:exon13:c.2677+1G>T;NM_001247997:exon14:c.2710+1G>T	.	.	.	.	.	.	.	.	.	.	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.416256	0.90820	D	0.360147	0.90706	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.584461	0.92331	32	0.9949231704001853	0.67516	0.93315	0.57888	D	AEFDGBCIJ	.	.	.	1.07073905631347	0.97553	16.32986	0.914893759174251	0.96190	14.40326	0.999999999999993	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.137589	0.03823	0	0.117559	0.03655	0	0.984395	0.91592	5.56	5.56	0.83678	5.135000	0.64617	7.575000	0.60810	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.968000	0.53726	0.0:1.0:0.0:0.0	19.520	0.95173	653	0.62661	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	718.43	35	chr12	122334026	.	C	A	718.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.236;DP=394;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.26;ReadPosRankSum=0.798;SOR=0.656	GT:AD:DP:GQ:PL	0/1:51,36:87:99:730,0,1158	9	0	1	0
chr12	122716083	122716083	G	A	exonic	HCAR3	.	stopgain	HCAR3:NM_006018:exon1:c.C655T:p.Q219X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.671e-05	0	0	0	0	1.518e-05	0	6.083e-05	3.84e-05	1	26028	rs765355631	4.793e-06	4.788e-06	1.362e-06	8.259e-06	0.0005	1.99e-06	1.28e-06	0.0001	7.562e-05	0	0	0	0	0	0.0005	3.601e-06	0	0	1.98e-05	1.97e-05	1.29e-05	2.702e-05	0.0002	5.26e-06	2.46e-06	8.04e-06	3.01e-06	4.854e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999901	0.81001	N	.	.	.	.	.	.	.	.	.	0.839	0.83473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298245	0.82827	D	0.291262	0.87750	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.826003	0.96899	36	0.98730254882326529	0.45348	0.17895	0.20033	N	AEFBI	0.249612	0.36981	N	0.210438103881618	0.51704	3.349634	-0.0522681345979552	0.37392	2.188735	0.00329375076874083	0.10040	0.446893	0.09132	0	0.541556	0.11502	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.41	2.5	0.29355	1.366000	0.33797	6.723000	0.56435	0.320000	0.19365	0.433000	0.26432	1.000000	0.68203	0.908000	0.44358	0.0:0.0:0.5831:0.4169	8.510	0.32372	465	0.78421	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	3365.14	89	chr12	122716083	.	G	A	3365.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.51;DP=691;ExcessHet=0.2348;FS=20.757;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=49.35;MQRankSum=1.45;QD=17.08;ReadPosRankSum=-0.671;SOR=0.548	GT:AD:DP:GQ:PL	0/1:36,59:95:99:1650,0,922	8	0	2	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V,SBNO1:NM_018183:exon24:c.A3175G:p.M1059V	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C 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	0.016633	0.005102	0.014946	0.017544	0.000000	0.000000	0.027439	0.030303	0.1	1152.14	37	chr12	123313662	.	T	C	1152.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.44;DP=393;ExcessHet=0.2348;FS=2.561;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.581;SOR=0.468	GT:AD:DP:GQ:PL	0/1:20,27:47:99:612,0,471	8	0	2	0
chr12	131756617	131756617	A	G	exonic	SFSWAP	.	nonsynonymous SNV	SFSWAP:NM_001261411:exon11:c.A1693G:p.T565A,SFSWAP:NM_004592:exon11:c.A1693G:p.T565A	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0036	0.00658946	0.0081	0.0008	0.0040	0.0001	0.0002	0.0068	0.0097	0.0310	0.0069792	1079	154602	rs145713017	0.0068	0.0067	0.0060	0.0075	0.0267	0.0066	0.0066	0.0257	0.0254	0.0009	0.0035	0.0129	5.067e-05	0.0003	0.0131	0.0059	0.0077	0.0267	0.0043	0.0043	0.0041	0.0045	0.0232	0.0040	0.0039	0.0198	0.0184	0.0010	0	0.0024	0.0147	0	0.0004	0.0102	0.0057	0.0057	0.0232	0.649	0.06779	T	0.784	0.05488	T	0.0	0.02946	B	0.0	0.01387	B	0.543757	0.05329	N	1.222960	1	0.08975	N	0.55	0.14455	N	2.98	0.09356	T	-0.82	0.22508	N	0.057	0.02861	-0.9893	0.32778	T	0.018	0.07565	T	10	0.003207326	0.00054	T	.	.	.	0.009	0.00846	.	.	0.246926113748	0.24311	0.06098012363249152	0.06038	0.433426700291	0.43500	0.341311901808	0.16635	T	0.045552	0.27157	T	-0.663629	0.00060	T	-0.706436	0.05481	T	0.00248593843203346	0.00026	T	0.407159	0.12198	T	0.021300873	0.00725	0.019259317	0.00083	0.021300873	0.00725	0.019259317	0.00083	-2.676	0.07103	T	.	.	0.057	0.01143	B	.;.	.;.	-0.337826	0.02456	0.282	0.50248361701415034	0.04351	0.01620	0.05236	N	AEFDBI	0.018817	0.00600	N	-1.52238196200166	0.01703	0.07453626	-1.55110784914675	0.01968	0.08988614	0.0111596481021623	0.12139	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.34	-3.66	0.04200	-0.421000	0.07118	1.784000	0.28742	-0.057000	0.16691	0.000000	0.06391	0.009000	0.19889	0.008000	0.08271	0.2274:0.0973:0.5789:0.0964	5.562	0.16433	982	0.03397	.;.	.	.	.	.	.	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	0.008595	0.000000	0.006793	0.000000	0.000000	0.017241	0.012346	0.019084	0.15	3563.45	36	chr12	131756617	.	A	G	3563.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.439;DP=524;ExcessHet=0.7463;FS=4.886;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.114;SOR=0.467	GT:AD:DP:GQ:PL	0/1:30,50:80:99:1241,0,655	7	0	3	0
chr12	132139675	132139675	C	T	exonic	DDX51	.	nonsynonymous SNV	DDX51:NM_175066:exon14:c.G1934A:p.R645Q	.	424	1097	1	0	0	1	0.000455581	.	.	.	2424938	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.020	0.020095575888	0.0002	.	0.0002	0.0003	0.0002	0	0	0.0003	0.0011	0	0.0001876	29	154602	rs200730907	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0.0002	0	2.519e-05	5.73e-05	0	0.0002	8.281e-05	0	0.0001	0.0001	0.0001	6.722e-05	0.0002	6.51e-05	5.322e-05	7.89e-05	5.586e-05	0.0002	0	0.0001	0	0	0	0	0.0001	0	0	0.368	0.11623	T	0.429	0.13752	T	0.051	0.22415	B	0.017	0.18140	B	0.007977	0.31093	N	0.320936	0.999993	0.08975	N	0.83	0.20963	L	4.53	0.01980	T	-0.33	0.12472	N	0.206	0.22870	-0.8984	0.48155	T	0.006	0.02131	T	10	0.04831344	0.04264	T	0.020096	0.42623	T	0.020	0.03691	.	.	0.144782658237	0.14088	0.494042030794622	0.49325	0.0456167028869	0.04953	0.200592756271	0.00474	T	0.006167	0.05608	T	-0.564474	0.00239	T	-0.751045	0.03445	T	0.0107012512162328	0.00151	T	0.70223	0.31206	T	0.029982297	0.02583	0.03260221	0.02021	0.029982297	0.02582	0.03260221	0.02021	-5.52	0.42054	T	.	.	0.070	0.03552	B	.	.	-0.061063	0.03878	0.845	0.76747152310328837	0.11593	0.11581	0.16728	N	AEFBCI	0.053596	0.09671	N	-0.989920079763169	0.08818	0.4149424	-1.03017069732989	0.09125	0.452273	0.00572121514008691	0.11025	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.59	1.2	0.20181	-0.225000	0.09156	-4.959000	0.01910	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.047000	0.14932	0.0:0.6013:0.0:0.3987	6.929	0.23611	912	0.21483	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2639.14	35	chr12	132139675	.	C	T	2639.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.672;DP=484;ExcessHet=0.2348;FS=1.159;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=0.424;SOR=0.801	GT:AD:DP:GQ:PL	0/1:45,66:111:99:1724,0,1048	8	0	2	0
chr12	133010770	133010770	G	C	exonic	ZNF26	.	nonsynonymous SNV	ZNF26:NM_001256280:exon3:c.G795C:p.L265F,ZNF26:NM_019591:exon4:c.G891C:p.L297F,ZNF26:NM_001256279:exon5:c.G990C:p.L330F,ZNF26:NM_001330513:exon5:c.G831C:p.L277F,ZNF26:NM_001330514:exon5:c.G831C:p.L277F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00879506846839	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879239416	1.095e-05	1.095e-05	4.085e-06	1.788e-05	0.0003	6.48e-06	5.25e-06	6.246e-05	4.757e-05	0	0	0	0	0	0.0003	3.598e-06	0	0.0001	6.575e-06	6.568e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.04	0.49613	D	0.087	0.40747	T	0.115	0.26429	B	0.017	0.18140	B	0.015111	0.28339	N	0.000000	0.99904	0.21681	N	0.68	0.16426	N	2.41	0.15492	T	-1.11	0.31375	N	0.161	0.16864	-1.0056	0.28277	T	0.016	0.06616	T	9	0.066979975	0.09266	T	0.008795	0.23196	T	0.055	0.15663	0.462	0.53079	0.0401082797425	0.02173	0.041853809287092	0.04130	.	.	0.628104627132	0.56875	T	0.068802	0.33550	T	-0.204871	0.20107	T	-0.53206	0.19081	T	0.0743839988331244	0.09253	T	0.218578	0.03512	T	0.08629617	0.20053	0.1160189	0.28009	0.08629617	0.20052	0.1160189	0.28008	-3.168	0.12094	T	.	.	0.421	0.60746	A	.;.	.;.	2.243318	0.28645	17.87	0.99875059868874982	0.95244	0.25329	0.22666	N	AEFDBHI	0.107615	0.21435	N	-0.638013589806084	0.17812	0.9196797	-0.537442359495725	0.21140	1.142198	0.0336086876767862	0.14114	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.13	2.27	0.27501	0.274000	0.18443	0.369000	0.17657	0.590000	0.31872	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.2932:0.0:0.4889:0.2179	2.638	0.04663	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3048.14	35	chr12	133010770	.	G	C	3048.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.51;DP=557;ExcessHet=0.2348;FS=2.789;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-2.129;SOR=0.797	GT:AD:DP:GQ:PL	0/1:70,75:145:99:1828,0,1773	8	0	2	0
chr13	19705660	19705660	A	G	splicing	PSPC1	NM_001042414:exon9:c.1386+2T>C;NM_001354909:exon8:c.1386+2T>C	.	.	.	432	1076	14	0	0	14	0.00646353	1.0000	0.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0101	0.0004	0	0.0007	0.0004	0	0.0049	3.84e-05	1	26028	rs199978034	0.0005	0.0021	0.0004	0.0006	0.0072	0.0005	0.0005	0.0064	0.0061	0.0072	0.0003	0.0005	2.532e-05	5.703e-05	0.0009	0.0001	0.0007	0.0040	0.0004	0.0041	0.0003	0.0004	0.0031	0.0003	0.0003	0.0019	0.0015	0.0009	0	0.0002	0	0.0002	0	0	2.983e-05	0.0010	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280988	0.81399	D	0.165844	0.81160	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.050697	0.94439	34	0.99401453346165403	0.62841	0.99464	0.96353	D	AEFBI	.	.	.	1.09589224680318	0.98058	17.332	0.939478605788397	0.97075	15.55247	0.999877557762358	0.44625	0.322412	0.05557	0	0.31918	0.05746	0	0.083675	0.02720	0	0.117559	0.03655	0	0.962906	0.66854	5.08	5.08	0.68373	7.575000	0.81761	11.212000	0.89433	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.123	0.72137	940	0.13648	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	98.45	82	chr13	19705660	.	A	G	98.45	.	AC=1;AF=0.05;AN=20;BaseQRankSum=4.41;DP=451;ExcessHet=0;FS=2.367;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.05;MQ=45.49;MQRankSum=-3.096;QD=1.59;ReadPosRankSum=-2.403;SOR=1.36	GT:AD:DP:GQ:PL	0/1:55,7:62:99:110,0,1762	9	0	1	0
chr13	19705699	19705699	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354909:exon8:c.A1349G:p.N450S,PSPC1:NM_001042414:exon9:c.A1349G:p.N450S	.	428	1031	63	0	0	63	0.0296471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00390126569449	.	.	0.0016	0.0038	0.0005	0	0.0003	0.0020	0.0014	0.0007	3.84e-05	1	26028	rs747690097	0.0006	0.0043	0.0006	0.0006	0.0038	0.0005	0.0005	0.0025	0.0021	0.0012	0.0008	0.0008	0	7.566e-05	0.0038	0.0005	0.0005	0.0011	6.656e-05	0.0013	6.514e-05	6.805e-05	0.0002	3.56e-05	2.747e-05	9.669e-05	7.037e-05	0.0002	0	0.0001	0	0	0	0	0	0	0	0.628	0.05183	T	0.791	0.04181	T	0.003	0.11197	B	0.004	0.10090	B	0.000005	0.62929	D	0.141833	0.875453	0.35645	D	2.175	0.60977	M	2.52	0.14160	T	-0.71	0.20145	N	0.389	0.43029	-1.0460	0.15534	T	0.025	0.10464	T	10	0.01992461	0.00451	T	0.003901	0.09180	T	0.089	0.25827	.	.	0.263709349026	0.25991	0.31023299681423644	0.30936	1.58326423833	0.88413	0.560328662395	0.47314	T	0.023946	0.18187	T	-0.271186	0.11624	T	-0.627316	0.10619	T	0.0115631071898478	0.00175	T	0.851615	0.53551	D	0.048064068	0.08317	0.046961877	0.06662	0.048064068	0.08317	0.046961877	0.06661	-3.543	0.17039	T	.	.	0.066	0.03060	B	.;.	.;.	2.734902	0.35810	19.99	0.97863726497321746	0.36486	0.94119	0.60170	D	AEBI	0.373470	0.45873	N	-0.321271564085281	0.28342	1.562413	-0.148788062981382	0.33455	1.913874	0.706191074588238	0.22762	0.732398	0.92422	0	0.724815	0.89359	0	0.643519	0.47002	0	0.727631	0.95156	0	.	.	5.08	3.89	0.44098	3.910000	0.56084	4.174000	0.42293	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.1543:0.0:0.8457	8.371	0.31578	940	0.13648	.;.	.	.	.	.	.	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	0.007380	0.017857	0.009642	0.013274	0.000000	0.000000	0.007874	0.000000	0.05	351.43	85	chr13	19705699	.	T	C	351.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.458;DP=555;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.15;MQRankSum=-5.356;QD=2.98;ReadPosRankSum=-2.862;SOR=0.641	GT:AD:DP:GQ:PL	0/1:93,25:118:99:363,0,2435	9	0	1	0
chr13	24710529	24710529	C	A	exonic	ATP12A	.	nonsynonymous SNV	ATP12A:NM_001185085:exon20:c.C2851A:p.Q951K,ATP12A:NM_001676:exon20:c.C2833A:p.Q945K	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.954	0.363974935726	.	.	.	.	.	.	.	.	.	.	.	.	.	rs902548316	1.436e-05	1.436e-05	1.225e-05	1.65e-05	1.888e-05	9.23e-06	7.84e-06	1.213e-05	1.03e-05	0	0	0	0	0	0	1.888e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.55341	D	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.105	0.87672	M	-4.3	0.97172	D	-3.02	0.62630	D	0.909	0.92200	1.101	0.99682	D	0.958	0.98646	D	10	0.96117103	0.95529	D	0.363975	0.92582	D	0.954	0.99189	0.797	0.91729	0.971552391733	0.97124	0.9174644892531261	0.91721	0.938946206287	0.72141	0.729568123817	0.71443	T	0.952256	0.99321	D	0.52113	0.94920	D	0.510791	0.94845	D	0.9893639087677	0.79605	D	0.989979	0.96879	D	0.9580638	0.97085	0.9139091	0.95966	0.9580638	0.97085	0.9139091	0.95967	-12.052	0.85103	D	.	.	0.835	0.78984	P	.;.	.;.	4.418953	0.68430	25.2	0.99658140869455347	0.77757	0.98906	0.88443	D	AEFBI	0.893916	0.83236	D	0.946095499185013	0.93829	12.30552	0.887158437164103	0.94988	13.21297	0.999999968519351	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.49	5.49	0.81022	7.813000	0.84661	7.703000	0.66393	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	16.891	0.85954	975	0.05339	.;Cation-transporting P-type ATPase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001036	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	777.43	33	chr13	24710529	.	C	A	777.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.982;DP=406;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.18;ReadPosRankSum=0.588;SOR=0.683	GT:AD:DP:GQ:PL	0/1:55,40:95:99:789,0,1260	9	0	1	0
chr13	42303096	42303096	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4350C:p.E1450D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0317518443811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.0	0.92824	D	0.046	0.21875	B	0.04	0.23831	B	0.002236	0.36970	N	0.258788	0.999802	0.20292	N	2.35	0.67516	M	0.63	0.53088	T	-0.98	0.25986	N	0.158	0.16447	-0.9998	0.29973	T	0.101	0.37443	T	10	0.07147744	0.10542	T	0.031752	0.53753	D	0.043	0.11576	0.193	0.10437	0.387475297304	0.38358	0.24412387893795467	0.24326	0.0536418645846	0.05925	0.276347875595	0.06989	T	0.015482	0.12979	T	-0.216966	0.18409	T	-0.549433	0.17381	T	0.154120936989784	0.17427	T	0.60444	0.22695	T	0.070583634	0.15560	0.053213075	0.08918	0.070583634	0.15559	0.053213075	0.08918	-3.609	0.17987	T	.	.	0.104	0.18705	B	.	.	-0.436613	0.02079	0.193	0.89464399913280646	0.18819	0.23250	0.22015	N	AEFBCI	0.138667	0.26003	N	-1.04216664049654	0.07742	0.3606713	-1.15099279227403	0.06750	0.3259806	0.997690503067831	0.35915	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-3.37	0.04591	-0.421000	0.07118	0.185000	0.15676	-0.113000	0.14837	0.000000	0.06391	0.001000	0.17328	0.020000	0.11549	0.4718:0.0967:0.3341:0.0974	4.234	0.10068	675	0.60470	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	115.16	33	chr13	42303096	.	G	C	115.16	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.45;DP=837;ExcessHet=0.2348;FS=139.06;InbreedingCoeff=-0.1121;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.55;ReadPosRankSum=1.74;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,13:95:25:0|1:42303096_G_C:25,0,3020:42303096	8	0	2	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	1521.44	33	chr13	42303097	.	G	C	1521.44	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-4.533;DP=1112;ExcessHet=7.0302;FS=278.586;InbreedingCoeff=-0.5475;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.9;ReadPosRankSum=0.958;SOR=11.075	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,13:95:25:0|1:42303096_G_C:25,0,3020:42303096	3	0	7	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	1754.69	104	chr13	69882456	.	G	A	1754.69	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.531;DP=1331;ExcessHet=22.563;FS=222.247;InbreedingCoeff=-0.9152;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=0.573;SOR=12.405	GT:AD:DP:GQ:PL	0/1:84,41:129:81:81,0,1067	0	0	10	0
chr13	76992174	76992174	T	C	exonic	CLN5	.	nonsynonymous SNV	CLN5:NM_001366624:exon1:c.T76C:p.W26R,CLN5:NM_006493:exon1:c.T76C:p.W26R	Ceroid lipofuscinosis, neuronal, 5, Autosomal recessive	1	1495	26	0	0	26	0.00862069	.	.	.	202778	not_provided|Neuronal_ceroid_lipofuscinosis_5|CLN5-related_disorder|Neuronal_ceroid_lipofuscinosis|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MONDO:MONDO:0009745,MedGen:C1850442,OMIM:256731,Orphanet:168491,Orphanet:228360|.|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.251	0.00466099649959	0.0013	0.000599042	0.0018	0.0003	0.0005	0	0	0.0025	0	0.0022	0.0012742	197	154602	rs199727787	0.0012	0.0012	0.0011	0.0012	0.0164	0.0011	0.0011	0.0134	0.0123	0.0006	0.0003	0.0223	2.529e-05	0	0.0164	0.0005	0.0034	0.0023	0.0012	0.0012	0.0012	0.0013	0.0023	0.0011	0.0010	0.0013	0.0010	0.0003	0	0.0005	0.0242	0	0	0.0171	0.0009	0.0014	0.0023	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	0.074966	0.21251	N	0.503542	1	0.08975	N	0	0.06538	N	.	.	.	.	.	.	.	.	-0.9557	0.39970	T	0.046	0.19760	T	10	0.004347682	0.00088	T	0.004661	0.11566	T	0.251	0.56024	0.614	0.74768	0.328752806141	0.32485	.	.	0.315112313597	0.33798	0.714274346828	0.69213	T	0.073766	0.46340	T	-0.333011	0.05887	T	-0.257291	0.49095	T	0.0035346265132851	0.00037	T	0.272073	0.04599	T	0.08435695	0.19522	0.08009138	0.18088	0.08435695	0.19522	0.08009138	0.18087	-2.851	0.08663	T	.	.	0.121	0.25166	B	.;.;.;.;.;.	.;.;.;.;.;.	0.902027	0.12763	9.278	0.40149424438879883	0.02815	0.06829	0.12853	N	AEFGBHCI	0.038351	0.05414	N	-1.32289881432295	0.03414	0.1524763	-1.40063660044462	0.03246	0.1510322	0.9999999999992	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	3.96	-1.88	0.07294	-0.016000	0.12550	0.602000	0.19937	-0.238000	0.07553	0.012000	0.18695	0.085000	0.22446	0.009000	0.08673	0.1477:0.3857:0.0:0.4666	4.782	0.12574	907	0.22727	.;.;.;.;.;.	.	.	.	.	.	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	0.014374	0.005263	0.008174	0.043210	0.000000	0.025862	0.015723	0.007634	0.05	659.43	35	chr13	76992174	.	T	C	659.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.57;DP=436;ExcessHet=0;FS=3.134;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.79;ReadPosRankSum=-1.163;SOR=1.086	GT:AD:DP:GQ:PL	0/1:45,30:75:99:671,0,1036	9	0	1	0
chr13	95210694	95210694	G	C	exonic	ABCC4	.	nonsynonymous SNV	ABCC4:NM_001301830:exon4:c.C394G:p.Q132E,ABCC4:NM_001105515:exon5:c.C619G:p.Q207E,ABCC4:NM_001301829:exon5:c.C619G:p.Q207E,ABCC4:NM_005845:exon5:c.C619G:p.Q207E	.	.	.	.	.	.	.	.	0.3701	0.53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0271979909277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.08286	T	1.0	0.04477	T	0.004	0.12183	B	0.02	0.19048	B	0.000000	0.84330	D	0.054165	1	0.81001	D	0.27	0.09956	N	-2.41	0.88533	D	-0.88	0.27669	N	0.128	0.16308	-0.4029	0.71935	T	0.425	0.76856	T	10	0.24728465	0.42007	T	0.027198	0.50036	D	0.348	0.66956	0.556	0.67409	0.78952506352	0.78757	0.4265959933505734	0.42576	0.256247635266	0.28199	0.408372879028	0.26232	T	0.210039	0.57042	T	-0.0405815	0.45861	T	-0.296069	0.45139	T	0.619982063770294	0.37205	D	0.828817	0.58582	T	0.23851986	0.46731	0.22453485	0.47369	0.23851986	0.46731	0.22453485	0.47368	-2.864	0.15545	T	.	.	0.104	0.18950	B	.;.;.;.;.;.	.;.;.;.;.;.	3.278682	0.44915	22.0	0.98733016574946064	0.45378	0.94044	0.59944	D	AEFDBI	0.645472	0.62135	D	-0.317972519366309	0.28465	1.570285	-0.101634532737968	0.35326	2.042349	0.999999994584141	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	6.737000	0.74619	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.001	0.89120	818	0.41518	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;.;.;.;ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1595.14	41	chr13	95210694	.	G	C	1595.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.849;DP=498;ExcessHet=0.2348;FS=3.412;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.48;ReadPosRankSum=0.253;SOR=0.467	GT:AD:DP:GQ:PL	0/1:63,45:108:99:911,0,1660	8	0	2	0
chr13	99982727	99982727	G	A	exonic	ZIC2	.	nonsynonymous SNV	ZIC2:NM_007129:exon1:c.G663A:p.M221I	Holoprosencephaly 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.0159184047108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.84e-07	0	1.386e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.076	0.42614	T	0.949	0.53761	P	0.921	0.65636	D	0.000000	0.84330	D	0.000000	0.999973	0.53665	D	2.645	0.77386	M	0.99	0.41750	T	-0.79	0.21860	N	0.618	0.63374	-0.7967	0.55338	T	0.210	0.57041	T	10	0.57804793	0.65692	D	0.015918	0.36914	T	0.249	0.55752	0.404	0.43573	0.83317459961	0.83158	0.3345802821426066	0.33371	.	.	0.727138459682	0.71088	T	0.196354	0.55270	T	-0.028008	0.47707	T	-0.278008	0.47008	T	0.948795557022095	0.62972	D	0.922708	0.71908	D	0.39119276	0.60117	0.36198837	0.61613	0.39119276	0.60117	0.36198837	0.61612	-6.914	0.53403	T	.	.	0.743	0.74756	P	.	.	5.261154	0.88341	29.6	0.98257091433298727	0.39630	0.96662	0.70275	D	AEFDGBHCI	0.905015	0.85602	D	0.382278794840422	0.60462	4.235318	0.351322377151365	0.58589	4.03016	0.999999999966364	0.74766	0.542737	0.22433	0	0.596491	0.49125	0	0.685571	0.62057	0	0.63947	0.58350	0	.	.	4.59	3.73	0.41982	9.937000	0.98857	11.686000	0.94288	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8473:0.1527	14.014	0.64028	602	0.67834	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	394.15	41	chr13	99982727	.	G	A	394.15	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.838;DP=750;ExcessHet=0.2348;FS=203.067;InbreedingCoeff=-0.1113;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.35;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:124,43:167:99:.:.:317,0,2880:.	8	0	2	0
chr13	100368479	100368479	G	T	exonic	PCCA	.	nonsynonymous SNV	PCCA:NM_001352608:exon17:c.G1429T:p.V477F,PCCA:NM_001352612:exon17:c.G562T:p.V188F,PCCA:NM_001127692:exon18:c.G1573T:p.V525F,PCCA:NM_001352606:exon18:c.G1507T:p.V503F,PCCA:NM_001352607:exon18:c.G1573T:p.V525F,PCCA:NM_001352610:exon18:c.G706T:p.V236F,PCCA:NM_001352611:exon18:c.G706T:p.V236F,PCCA:NM_000282:exon19:c.G1651T:p.V551F,PCCA:NM_001178004:exon19:c.G1651T:p.V551F,PCCA:NM_001352605:exon19:c.G1651T:p.V551F,PCCA:NM_001352609:exon19:c.G1651T:p.V551F	Propionicacidemia, Autosomal recessive	35	1422	60	5	0	70	0.024022	.	.	.	47470	Propionic_acidemia|not_provided|not_specified	Human_Phenotype_Ontology:HP:0003571,MONDO:MONDO:0011628,MedGen:C0268579,OMIM:606054,Orphanet:35|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.042	.	0.0061	0.00279553	0.0077	0.0020	0.0058	0.0001	0.0020	0.0106	0.0099	0.0070	0.007846	1213	154602	rs61749895	0.0088	0.0091	0.0087	0.0090	0.0362	0.0087	0.0086	0.0322	0.0306	0.0020	0.0081	0.0100	0	0.0027	0.0362	0.0096	0.0098	0.0068	0.0070	0.0070	0.0066	0.0074	0.0128	0.0066	0.0065	0.0113	0.0107	0.0019	0	0.0128	0.0110	0	0.0023	0.0411	0.0096	0.0157	0.0054	0.51	0.50676	T	0.706	0.54541	T	0.072	0.23997	B	0.059	0.26602	B	0.000666	0.42516	D	0.092028	0.999897	0.19781	N	1.245	0.31408	L	-1.19	0.78427	T	-1.24	0.41428	N	0.253	0.29313	-0.9538	0.40310	T	0.166	0.50486	T	10	0.0050973594	0.00110	T	.	.	.	0.495	0.78036	.	.	0.237489013734	0.23353	0.5414792096076211	0.54072	0.18749610879	0.21068	0.274469137192	0.06733	T	0.405477	0.76164	T	-0.220797	0.17884	T	-0.0795484	0.64938	T	0.002613999720297	0.00027	T	0.686231	0.31753	T	0.10194706	0.24085	0.08496319	0.19583	0.09695565	0.22845	0.07956249	0.17920	-3.107	0.13455	T	0.09290950936720156	0.06056	0.096	0.15385	B	.;.;.;.	.;.;.;.	0.493760	0.08630	5.399	0.58896346874019345	0.06098	0.25735	0.22787	N	AEFGBI	0.246318	0.36709	N	-1.39697904296976	0.02667	0.1180743	-1.37944493398146	0.03472	0.1620144	0.93334498371539	0.27125	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	4.77	-1.81	0.07456	-0.163000	0.09986	-0.136000	0.11567	-0.678000	0.04252	0.706000	0.28683	0.000000	0.08366	0.310000	0.24737	0.2295:0.0:0.7705:0.0	13.543	0.61143	892	0.26670	.;.;.;.	.	.	.	.	.	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	0.023162	0.015152	0.031250	0.035088	0.050000	0.008621	0.015244	0.007576	0.1	933.14	39	chr13	100368479	.	G	T	933.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.882;DP=382;ExcessHet=0.2348;FS=1.717;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.14;ReadPosRankSum=0.061;SOR=0.501	GT:AD:DP:GQ:PL	0/1:21,16:37:99:366,0,563	8	0	2	0
chr13	102737670	102737670	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G13027C:p.V4343L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.296e-05	0.0009	1.28e-05	1.313e-05	3.19e-05	8.1e-06	6.68e-06	9.68e-06	7.91e-06	3.19e-05	0	0	0	0	0	1.589e-05	0	0	6.741e-06	1.989e-05	0	1.384e-05	1.492e-05	0	0	.	.	0	0	0	0	0	0	0	1.492e-05	0	0	.	.	.	0.044	0.49663	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.16028	.	.	.	.	.	.	.	0.08621222	0.14631	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.08298472189106709	0.08233	.	.	0.344727694988	0.17142	T	.	.	.	-0.118802	0.33320	T	-0.408427	0.32407	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.43882	B	.	.	-0.018962	0.04151	0.996	0.36670154075650313	0.02372	0.03259	0.08291	N	AEFBI	.	.	.	.	.	.	.	.	.	0.929394545130418	0.26967	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0516762	0.10602	2.37	-0.837	0.10221	0.258000	0.18156	-2.744000	0.03406	0.581000	0.30040	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4159:0.0:0.5841	5.246	0.14815	952	0.10565	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	492.36	185	chr13	102737670	.	C	G	492.36	.	AC=3;AF=0.25;AN=12;BaseQRankSum=-5.067;DP=1484;ExcessHet=0.7463;FS=269.879;InbreedingCoeff=-0.3415;MLEAC=4;MLEAF=0.333;MQ=59.99;MQRankSum=0;QD=1.03;ReadPosRankSum=1.97;SOR=10.375	GT:AD:DP:GQ:PL	0/1:118,28:169:99:138,0,2554	3	0	3	4
chr13	108820362	108820362	T	A	exonic	MYO16	.	nonsynonymous SNV	MYO16:NM_001198950:exon8:c.T893A:p.M298K,MYO16:NM_015011:exon8:c.T827A:p.M276K	.	431	1079	11	1	0	13	0.00598802	.	.	.	702573	not_provided|MYO16-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.106	.	0.0010	0.0061901	0.0095	0.0015	0.0688	0	0	0.0020	0.0037	0.0084	0.0052069	805	154602	rs149704651	0.0025	0.0026	0.0025	0.0026	0.0391	0.0025	0.0024	0.0376	0.0369	0.0007	0.0391	0.0036	5.144e-05	1.888e-05	0.0042	0.0009	0.0031	0.0072	0.0048	0.0048	0.0042	0.0055	0.0374	0.0045	0.0044	0.0348	0.0338	0.0011	0	0.0374	0.0040	0.0002	0	0.0034	0.0009	0.0038	0.0062	0.692	0.04277	T	0.911	0.02952	T	0.007	0.14184	B	0.005	0.11217	B	0.205379	0.16496	U	0.486578	0.819851	0.28896	N	-1.585	0.00443	N	0.04	0.62051	T	0.22	0.15578	N	0.515	0.56489	-1.1138	0.02763	T	0.035	0.15160	T	9	0.0034356713	0.00060	T	.	.	.	0.106	0.30130	.	.	0.27715347029	0.27323	0.5134021084500362	0.51262	0.286963924779	0.31096	0.455572128296	0.32704	T	0.002097	0.04028	T	-0.451041	0.01114	T	-0.390678	0.34471	T	0.00666718737543767	0.00075	T	.	.	.	0.132447	0.30839	0.1200902	0.28984	0.15821064	0.35606	0.1200902	0.28983	-3.239	0.12963	T	.	.	0.112	0.21950	B	.;.;.;.	.;.;.;.	0.935500	0.13111	9.612	0.7729512424577818	0.11817	0.67240	0.33361	D	AEFGI	0.157255	0.28274	N	-0.698731353460946	0.16058	0.8147977	-0.492521327989118	0.22359	1.214038	0.118286412907885	0.16820	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.7	3.31	0.37025	0.185000	0.16767	0.417000	0.18177	0.665000	0.62972	0.795000	0.29657	0.846000	0.27345	0.978000	0.57271	0.0:0.1541:0.0:0.8459	7.787	0.28259	906	0.23090	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;.;Ankyrin repeat-containing domain|Ankyrin repeat-containing 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	0	0	1	0	0.003024	0.000000	0.004076	0.000000	0.100000	0.000000	0.000000	0.003817	0.05	1373.43	44	chr13	108820362	.	T	A	1373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.68;DP=508;ExcessHet=0;FS=0.659;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=1.86;SOR=0.764	GT:AD:DP:GQ:PL	0/1:65,59:124:99:1385,0,1437	9	0	1	0
chr13	112547564	112547564	G	0	exonic	TUBGCP3	.	.	.	.	436	917	58	3	108	172	0.0337197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2756.74	201	chr13	112547564	.	G	*	2756.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.59;DP=1056;ExcessHet=0.7463;FS=0.533;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.99;ReadPosRankSum=-0.468;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,68:183:99:1|0:112547538_ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG_A:2509,0,4425:112547538	8	0	2	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	3640.74	36	chr13	112547565	.	C	*	3640.74	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.18;DP=908;ExcessHet=0.7463;FS=0.531;InbreedingCoeff=-0.1765;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.14;ReadPosRankSum=-0.243;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,68:183:99:1|0:112547538_ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG_A:2509,0,4425:112547538	8	0	2	0
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3039.97	295	chr13	113404039	.	G	*	3039.97	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-2.336;DP=2185;ExcessHet=1.5895;FS=2.601;InbreedingCoeff=-0.2903;MLEAC=2;MLEAF=0.111;MQ=59.01;MQRankSum=-0.592;QD=4.68;ReadPosRankSum=0.702;SOR=0.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,19:32:99:.:.:395,0,513:.	7	0	2	1
chr13	114301834	114301834	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G508A:p.A170T,UPF3A:NM_001353646:exon7:c.G508A:p.A170T,UPF3A:NM_001353649:exon7:c.G496A:p.A166T,UPF3A:NM_001353647:exon8:c.G508A:p.A170T,UPF3A:NM_001353648:exon8:c.G508A:p.A170T,UPF3A:NM_080687:exon8:c.G1012A:p.A338T,UPF3A:NM_001353645:exon9:c.G508A:p.A170T,UPF3A:NM_001353650:exon9:c.G496A:p.A166T,UPF3A:NM_023011:exon9:c.G1111A:p.A371T	.	408	1113	1	0	0	1	0.000449035	.	.	.	3629168	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.0162049497918	7.7e-05	.	7.824e-05	0	0	0	0	9.46e-05	0	0.0002	6.47e-05	10	154602	rs145387476	3.969e-05	3.967e-05	2.859e-05	5.09e-05	0.0014	3.114e-05	2.847e-05	0.0007	0.0005	5.977e-05	4.477e-05	0	0	0	0.0014	1.079e-05	0.0001	0.0003	5.908e-05	5.905e-05	1.284e-05	0.0001	0.0006	3.075e-05	2.208e-05	0.0002	8.992e-05	0	0	0.0003	0	0	0	0	1.47e-05	0	0.0006	0.572	0.06145	T	0.631	0.07173	T	0.037	0.26188	B	0.017	0.22329	B	0.116578	0.19188	N	0.573733	0.91035	0.27520	N	1.01	0.25309	L	-1.41	0.80560	T	-0.39	0.14193	N	0.148	0.18376	-0.8508	0.51912	T	0.261	0.63186	T	9	0.06913984	0.09879	T	0.016205	0.37354	T	0.030	0.07022	.	.	0.899957250179	0.89896	0.03631307488388333	0.03578	0.170216262749	0.19188	0.308335125446	0.11655	T	8.91E-4	0.00456	T	-0.382272	0.03015	T	-0.494735	0.22895	T	0.0230541689734414	0.01030	T	0.735926	0.35246	T	0.015708147	0.00153	0.032290336	0.01943	0.015708147	0.00153	0.032290336	0.01942	-4.206	0.26838	T	.	.	0.075	0.08754	B	.;.	.;.	1.229277	0.16240	12.41	0.49136539935922896	0.04158	0.76863	0.37732	D	AEFBI	0.063821	0.12357	N	-0.551126186895524	0.20448	1.078027	-0.496866617391813	0.22240	1.20701	0.946660567765733	0.27717	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.14	3.34	0.37357	0.997000	0.29333	1.496000	0.26922	0.676000	0.76740	0.995000	0.38783	0.172000	0.23351	0.147000	0.20199	0.4058:0.0:0.5942:0.0	6.198	0.19773	946	0.12043	.;.	.	.	.	.	.	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	0.000530	0.000000	0.000000	0.004098	0.000000	0.000000	0.000000	0.000000	0.05	1122.43	33	chr13	114301834	.	G	A	1122.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=415;ExcessHet=0;FS=3.714;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.73;MQRankSum=1.27;QD=11.45;ReadPosRankSum=-0.627;SOR=0.922	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1134,0,1283	9	0	1	0
chr13	114301925	114301925	G	A	exonic	UPF3A	.	nonsynonymous SNV	UPF3A:NM_001353644:exon7:c.G599A:p.S200N,UPF3A:NM_001353646:exon7:c.G599A:p.S200N,UPF3A:NM_001353649:exon7:c.G587A:p.S196N,UPF3A:NM_001353647:exon8:c.G599A:p.S200N,UPF3A:NM_001353648:exon8:c.G599A:p.S200N,UPF3A:NM_080687:exon8:c.G1103A:p.S368N,UPF3A:NM_001353645:exon9:c.G599A:p.S200N,UPF3A:NM_001353650:exon9:c.G587A:p.S196N,UPF3A:NM_023011:exon9:c.G1202A:p.S401N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0131570505153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-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	0.393	0.10730	T	0.789	0.05707	T	0.002	0.15535	B	0.003	0.12133	B	0.608642	0.10888	N	0.847047	0.995395	0.23301	N	1.01	0.25309	L	-1.42	0.80645	T	-0.42	0.14193	N	0.106	0.12198	-0.9209	0.45431	T	0.248	0.61704	T	9	0.08412802	0.14067	T	0.013157	0.32344	T	0.077	0.22490	0.218	0.13932	0.826173596387	0.82452	0.028771188836604556	0.02827	0.161903528534	0.18264	0.361519306898	0.19607	T	0.001425	0.00883	T	-0.199017	0.20947	T	-0.52365	0.19925	T	0.0504586418347531	0.05581	T	0.519248	0.16884	T	0.019892972	0.00530	0.033765323	0.02327	0.019892972	0.00530	0.033765323	0.02326	-5.504	0.41905	T	.	.	0.086	0.17700	B	.;.	.;.	0.211766	0.05954	2.392	0.75584978553886684	0.11132	0.71590	0.35079	D	AEFBI	0.084446	0.17114	N	-0.564472322985564	0.20031	1.053027	-0.470573285432233	0.22969	1.250237	0.809908035207129	0.24336	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	4.94	1.66	0.23081	0.580000	0.23505	0.289000	0.16851	0.676000	0.76740	1.000000	0.71638	0.000000	0.08366	0.027000	0.12703	0.3857:0.0:0.4205:0.1938	3.160	0.06128	946	0.12043	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07143	35.92	71	chr13	114301925	.	G	A	35.92	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-3.144;DP=468;ExcessHet=0;FS=62.808;InbreedingCoeff=-0.1627;MLEAC=1;MLEAF=0.071;MQ=52.58;MQRankSum=1.12;QD=0.6;ReadPosRankSum=-0.533;SOR=5.89	GT:AD:DP:GQ:PL	0/1:42,18:60:45:45,0,821	6	0	1	3
chr14	19713771	19713771	A	C	exonic	OR11H2	.	nonsynonymous SNV	OR11H2:NM_001197287:exon2:c.T146G:p.I49R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.177e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.78	0.95251	H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2413083	0.41306	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.23371425758989875	0.23286	.	.	0.290080726147	0.08934	T	0.159824	0.50342	T	0.0785471	0.61871	D	-0.124949	0.61394	T	.	.	.	0.233577	0.03193	T	0.043442357	0.06772	0.17287156	0.39573	0.043442357	0.06771	0.17287156	0.39572	-13.865	0.92611	D	.	.	0.270	0.50444	B	.;.	.;.	1.460536	0.18830	13.95	0.31370496694902894	0.01764	0.04424	0.10018	N	AEI	.	.	.	.	.	.	.	.	.	1.90918300334729E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0464806	0.05621	1.06	-1.12	0.09306	-0.720000	0.05072	-13.080000	0.00481	-1.591000	0.00906	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6948:0.0:0.3052:0.0	6.787	0.22866	994	0.00715	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	1028.6	.	chr14	19713771	.	A	C	1028.6	.	AC=1;AF=0.056;AN=18;BaseQRankSum=0.967;DP=278;ExcessHet=0;FS=5.119;MLEAC=1;MLEAF=0.056;MQ=30.45;MQRankSum=-0.967;QD=26.37;ReadPosRankSum=-0.967;SOR=1.739	GT:AD:DP:GQ:PL	1/0:0,25:32:99:894,225,150	8	0	1	1
chr14	20378209	20378209	G	A	exonic	TEP1	.	nonsynonymous SNV	TEP1:NM_001319035:exon37:c.C5212T:p.R1738C,TEP1:NM_007110:exon39:c.C5536T:p.R1846C	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.0195515814689	0.0002	0.000199681	0.0002	0	0	0.0001	0	4.505e-05	0	0.0013	0.0001746	27	154602	rs144424113	0.0001	0.0001	6.401e-05	0.0002	0.0014	0.0001	9.704e-05	0.0012	0.0011	0	0	0	2.519e-05	0	0.0007	3.147e-05	0.0002	0.0014	0.0001	0.0001	7.714e-05	0.0002	0.0021	8.17e-05	6.726e-05	0.0011	0.0009	2.409e-05	0	0	0	0.0004	0	0.0034	7.354e-05	0	0.0021	0.069	0.35537	T	0.102	0.38596	T	0.205	0.32740	B	0.031	0.27542	B	0.000134	0.49741	N	0.172925	0.971693	0.38890	D	2.12	0.58754	M	0.65	0.52642	T	-4.42	0.77470	D	0.445	0.48319	-1.0313	0.20034	T	0.099	0.36983	T	10	0.04007873	0.02548	T	0.019552	0.41941	T	0.073	0.21317	.	.	0.525459847594	0.52193	0.623025822369685	0.62235	0.157365721	0.17763	0.403162777424	0.25509	T	0.427328	0.77684	T	-0.407815	0.02055	T	-0.399107	0.33488	T	0.158327531292043	0.17747	T	0.827017	0.49049	T	0.16873485	0.37349	0.13292272	0.31886	0.16873485	0.37349	0.13292272	0.31885	-5.065	0.37537	T	.	.	0.088	0.12891	B	.;.	.;.	2.748393	0.36020	20.1	0.99920377701863716	0.98721	0.78344	0.38638	D	AEFDBI	0.135580	0.25596	N	-0.360607309492052	0.26885	1.470734	-0.27969087189879	0.28768	1.606555	0.880779479825871	0.25616	0.562547	0.31514	0	0.577304	0.33150	0	0.566861	0.19136	0	0.635551	0.53088	0	.	.	5.48	3.63	0.40741	0.933000	0.28497	1.784000	0.28742	0.676000	0.76740	0.967000	0.34061	0.964000	0.29435	0.666000	0.33137	0.1638:0.0:0.8362:0.0	9.937	0.40726	929	0.16858	WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1524.43	51	chr14	20378209	.	G	A	1524.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=461;ExcessHet=0;FS=1.525;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.61;ReadPosRankSum=0.09;SOR=0.886	GT:AD:DP:GQ:PL	0/1:52,60:112:99:1536,0,1168	9	0	1	0
chr14	20990245	20990245	G	C	exonic	METTL17	.	nonsynonymous SNV	METTL17:NM_001029991:exon2:c.G91C:p.V31L,METTL17:NM_022734:exon2:c.G91C:p.V31L	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	7.7e-05	0.00219649	0.0015	9.694e-05	0	0	0	0	0.0022	0.0109	0.0012548	194	154602	rs199730461	0.0007	0.0007	0.0003	0.0010	0.0104	0.0006	0.0006	0.0098	0.0096	5.974e-05	2.236e-05	0	0	0	0.0005	6.295e-06	0.0007	0.0104	0.0003	0.0003	0.0002	0.0005	0.0106	0.0003	0.0002	0.0082	0.0074	4.808e-05	0	0	0	0	0	0	0	0	0.0106	0.026	0.50676	D	0.082	0.55341	T	0.278	0.40811	B	0.034	0.35748	B	0.016365	0.27995	N	0.321581	1	0.08975	N	2.215	0.62545	M	1.41	0.35219	T	-0.66	0.23808	N	0.454	0.49146	-1.0807	0.07214	T	0.067	0.27537	T	10	0.0057865977	0.00129	T	.	.	.	0.028	0.06331	0.262	0.20631	0.311079019809	0.30711	0.3227596530613712	0.32188	0.43564859741	0.43665	0.443575382233	0.31066	T	0.005344	0.19675	T	-0.466308	0.00897	T	-0.4332	0.29573	T	0.0650130690757471	0.07933	T	0.791921	0.45191	T	0.1735029	0.38102	0.20729282	0.44981	0.1735029	0.38102	0.20729282	0.44980	-3.866	0.22243	T	.	.	0.126	0.47305	B	.;.;.;.	.;.;.;.	3.028449	0.40554	21.2	0.99117435140971077	0.52906	0.03016	0.07890	N	ALL	0.091092	0.18453	N	-0.400716941973705	0.25444	1.381255	-0.401286500129438	0.24960	1.369811	0.999999999999132	0.74766	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	6.07	3.26	0.36471	1.481000	0.35083	6.439000	0.55649	0.656000	0.54149	0.149000	0.23640	1.000000	0.68203	0.162000	0.20715	0.216:0.0:0.784:0.0	9.704	0.39373	923	0.18507	.;.;.;.	.	.	.	.	.	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	0.000000	0.000000	0.000000	0.003049	0.003788	0.05	1519.43	37	chr14	20990245	.	G	C	1519.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.536;DP=508;ExcessHet=0;FS=3.754;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=0.168;SOR=0.511	GT:AD:DP:GQ:PL	0/1:87,69:156:99:1531,0,2122	9	0	1	0
chr14	23308862	23308862	G	A	exonic	BCL2L2	.	nonsynonymous SNV	BCL2L2:NM_001199839:exon4:c.G479A:p.R160Q,BCL2L2:NM_004050:exon4:c.G479A:p.R160Q	.	.	.	.	.	.	.	.	.	.	.	4104580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0164691185205	.	.	1.822e-05	0	0	0.0001	0	0	0	0.0001	1.29e-05	2	154602	rs767993294	5.138e-06	8.893e-06	6.583e-06	3.571e-06	0.0002	1.85e-06	1.21e-06	1.176e-05	4.4e-06	0	0	0	0	0	0.0002	2.087e-06	2.143e-05	7.105e-05	6.571e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.063	0.36709	T	0.037	0.51737	D	0.947	0.53479	P	0.302	0.41118	B	0.108884	0.19508	N	0.451191	1	0.81001	D	1.01	0.25309	L	0.91	0.44856	T	-1.34	0.33401	N	0.301	0.34012	-1.0864	0.06155	T	0.062	0.25923	T	10	0.24105573	0.41276	T	0.016469	0.37742	T	0.156	0.40720	0.609	0.74182	0.542808479177	0.53935	0.3676738268793131	0.36681	0.78301716889	0.65381	.	.	.	0.061143	0.31575	T	-0.192807	0.21846	T	-0.289028	0.45873	T	0.503133535385132	0.32744	D	0.867613	0.56877	D	0.264064	0.49472	0.1682662	0.38773	0.264064	0.49472	0.1682662	0.38772	-4.433	0.30001	T	.	.	0.123	0.25785	B	.	.	4.708127	0.75603	26.4	0.99856397183915924	0.93548	0.89176	0.49484	D	AEFDBI	0.531010	0.55147	D	0.180101087217974	0.50244	3.216341	0.271643130234481	0.53890	3.555912	0.999999757456772	0.74766	0.732398	0.92422	0	0.662677	0.63036	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.37	4.48	0.53973	5.658000	0.67673	9.858000	0.82036	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.086:0.0:0.914:0.0	11.709	0.50878	783	0.47268	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1721.43	36	chr14	23308862	.	G	A	1721.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.33;DP=438;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.09;ReadPosRankSum=1.42;SOR=0.638	GT:AD:DP:GQ:PL	0/1:44,63:107:99:1733,0,994	9	0	1	0
chr14	24440849	24440849	C	T	exonic	SDR39U1	.	nonsynonymous SNV	SDR39U1:NM_001290292:exon4:c.G160A:p.V54I,SDR39U1:NM_001290293:exon4:c.G82A:p.V28I,SDR39U1:NM_001308075:exon4:c.G160A:p.V54I,SDR39U1:NM_020195:exon5:c.G406A:p.V136I	.	428	1080	14	0	0	14	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.249	0.207122279023	0.0020	0.00159744	0.0022	0.0002	0.0020	0.0001	0.0006	0.0033	0.0011	0.0012	0.0021669	335	154602	rs145788637	0.0022	0.0022	0.0021	0.0023	0.0087	0.0021	0.0021	0.0068	0.0061	0.0005	0.0017	0.0012	2.519e-05	0.0006	0.0087	0.0024	0.0025	0.0013	0.0019	0.0019	0.0019	0.0018	0.0029	0.0017	0.0016	0.0025	0.0023	0.0006	0	0.0029	0.0006	0	0.0011	0.0034	0.0028	0.0024	0.0006	0.027	0.52492	D	0.026	0.56192	D	0.997	0.90584	D	0.805	0.66185	P	0.000002	0.62929	D	0.058506	1	0.81001	D	.	.	.	-3.18	0.93111	D	-0.44	0.14588	N	0.416	0.45615	0.737	0.93629	D	0.817	0.93826	D	10	0.009403825	0.00212	T	0.207122	0.87076	D	0.249	0.55752	.	.	0.410734915765	0.40690	0.5117001049876125	0.51092	0.296933290066	0.32082	0.500692129135	0.38925	T	0.044031	0.28183	T	-0.117435	0.33543	T	0.0561152	0.73987	D	0.0470243884598374	0.04969	T	0.916808	0.78426	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.40246	B	.;.;.;.	.;.;.;.	4.619124	0.73326	26.0	0.99872630228971726	0.94989	0.93568	0.58573	D	AEFDBHCI	0.645438	0.62133	D	0.669163444638782	0.77613	6.70868	0.678643797607919	0.80760	7.371155	1.0	0.98316	0.722319	0.85440	0	0.696144	0.67643	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.74	5.74	0.90070	5.642000	0.67561	2.199000	0.31271	0.599000	0.40250	1.000000	0.71638	0.976000	0.30059	0.990000	0.65344	0.0:1.0:0.0:0.0	17.412	0.87380	804	0.43891	.;.;.;.	.	.	.	.	.	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	0.005035	0.005051	0.002717	0.000000	0.000000	0.008621	0.015244	0.003788	0.05	907.43	39	chr14	24440849	.	C	T	907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.32;DP=470;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=1.78;SOR=0.62	GT:AD:DP:GQ:PL	0/1:62,39:101:99:919,0,1477	9	0	1	0
chr14	37737735	37737735	G	T	splicing	TTC6	NM_001310135:exon11:c.2031+1G>T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.571e-07	2.737e-06	1.496e-06	0	1.425e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.425e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0762358	0.61597	D	-0.128269	0.61117	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.678769	0.92986	33	0.97734275927851944	0.35640	0.90204	0.51197	D	AEFI	.	.	.	0.852358668422742	0.89243	9.892013	0.608181994401453	0.75533	6.327	0.0343265938859333	0.14149	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.936959	0.59767	3.95	3.95	0.44952	3.841000	0.55557	10.689000	0.83576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.009000	0.08673	0.0:0.0:1.0:0.0	11.814	0.51473	602	0.67834	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	145.43	45	chr14	37737735	.	G	T	145.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.233;DP=420;ExcessHet=0;FS=1.792;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.61;ReadPosRankSum=-1.608;SOR=0.307	GT:AD:DP:GQ:PL	0/1:14,8:22:99:157,0,326	9	0	1	0
chr14	58131719	58131719	G	C	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon4:c.C1624G:p.Q542E,ARMH4:NM_001320173:exon4:c.C1624G:p.Q542E	.	436	1073	13	0	0	13	0.00602131	.	.	.	2810441	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0062	0.00339457	0.0078	0.0021	0.0021	0	0.0417	0.0087	0.0187	0.0017	0.0077231	1194	154602	rs45570237	0.0084	0.0084	0.0086	0.0082	0.0212	0.0083	0.0082	0.0178	0.0166	0.0016	0.0025	0.0018	0	0.0406	0.0212	0.0083	0.0071	0.0019	0.0078	0.0078	0.0065	0.0092	0.0081	0.0075	0.0073	0.0075	0.0073	0.0016	0.0176	0.0049	0.0006	0	0.0435	0.0238	0.0081	0.0033	0.0012	0.352	0.12226	T	0.98	0.02423	T	0.015	0.17086	B	0.015	0.17295	B	0.575649	0.05505	N	1.303710	1	0.08975	N	.	.	.	2.28	0.17271	T	-0.33	0.12472	N	0.3	0.33904	-0.9805	0.34886	T	0.016	0.06521	T	10	0.0017748177	0.00023	T	.	.	.	0.032	0.07718	.	.	0.0297737177859	0.01360	0.09089282105782862	0.09022	0.0439273246265	0.04729	.	.	.	0.001223	0.00717	T	-0.653005	0.00069	T	-0.697147	0.05983	T	0.00238747770973534	0.00025	T	0.541546	0.18382	T	0.0404208	0.05764	0.054478306	0.09376	0.0404208	0.05764	0.054478306	0.09375	-2.099	0.03580	T	.	.	0.063	0.01512	B	.	.	0.310951	0.06862	3.392	0.87301622403300372	0.17130	0.13007	0.17609	N	ALL	0.118449	0.23162	N	-1.18373984612655	0.05245	0.2386762	-1.21246586129291	0.05709	0.2727758	0.999998542637973	0.74766	0.758104	0.99027	0	0.59043	0.45803	0	0.691618	0.62860	0	0.620846	0.47308	0	.	.	5.15	-2.36	0.06282	-0.396000	0.07338	-0.127000	0.11659	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.611000	0.31665	0.333:0.4132:0.2537:0.0	5.461	0.15913	866	0.32446	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.018839	0.010417	0.019022	0.038462	0.055556	0.017241	0.009317	0.003817	0.05	1331.43	33	chr14	58131719	.	G	C	1331.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.306;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.64;ReadPosRankSum=0.402;SOR=0.683	GT:AD:DP:GQ:PL	0/1:27,53:80:99:1343,0,608	9	0	1	0
chr14	58133226	58133226	C	A	exonic	ARMH4	.	nonsynonymous SNV	ARMH4:NM_001001872:exon3:c.G1485T:p.E495D,ARMH4:NM_001320173:exon3:c.G1485T:p.E495D	.	426	1073	21	2	0	25	0.0115154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.010809206987	0.0002	0.000798722	0.0009	0	0.0011	0	0	0.0010	0.0033	0.0020	0.0008861	137	154602	rs147981947	0.0007	0.0007	0.0006	0.0008	0.0059	0.0007	0.0006	0.0043	0.0038	0.0001	0.0009	0.0009	0	3.744e-05	0.0059	0.0006	0.0007	0.0023	0.0006	0.0006	0.0006	0.0007	0.0027	0.0005	0.0005	0.0016	0.0013	7.225e-05	0.0011	0.0009	0.0009	0	0	0	0.0008	0.0038	0.0027	0.035	0.43708	D	0.101	0.38596	T	0.971	0.57185	D	0.721	0.54900	P	0.012483	0.29156	N	0.294052	0.847836	0.35172	D	.	.	.	1.86	0.24285	T	-2.46	0.53736	N	0.191	0.20925	-0.9336	0.43605	T	0.105	0.38390	T	10	0.009754986	0.00219	T	0.010809	0.27768	T	0.054	0.15330	0.155	0.05858	0.0551355673512	0.04727	0.044565284659814	0.04400	0.0780390423039	0.08785	.	.	.	0.038967	0.25026	T	-0.538043	0.00344	T	-0.552422	0.17093	T	0.0445649304134644	0.04522	T	0.454355	0.12956	T	0.117513396	0.27703	0.108159326	0.26050	0.117513396	0.27703	0.108159326	0.26049	-4.701	0.33416	T	.	.	0.121	0.25133	B	.	.	2.207759	0.28159	17.71	0.99629274163288084	0.75959	0.68157	0.33696	D	AEFGBI	0.202729	0.32929	N	0.163183261700615	0.49437	3.144204	0.0975631311440947	0.44426	2.724604	0.999977659090372	0.50053	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.59	4.7	0.58776	1.982000	0.40260	0.212000	0.15973	0.599000	0.40250	0.718000	0.28801	0.000000	0.08366	0.017000	0.10941	0.0:0.9025:0.0:0.0975	9.598	0.38752	868	0.31772	.	.	.	.	.	.	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	0.004532	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.011364	0.05	1608.43	39	chr14	58133226	.	C	A	1608.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.316;DP=477;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.83;ReadPosRankSum=-1.53;SOR=0.735	GT:AD:DP:GQ:PL	0/1:63,73:136:99:1620,0,1365	9	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	805.9	81	chr14	58213644	.	T	C	805.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.332;DP=628;ExcessHet=7.0302;FS=229.252;InbreedingCoeff=-0.531;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.73;SOR=10.236	GT:AD:DP:GQ:PL	0/1:36,17:53:40:40,0,574	3	0	7	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	115.62	48	chr14	63599584	.	C	T	115.62	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.071;DP=618;ExcessHet=0;FS=8.833;InbreedingCoeff=-0.0661;MLEAC=1;MLEAF=0.05;MQ=58.72;MQRankSum=-9.342;QD=0.76;ReadPosRankSum=-1.12;SOR=1.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,13:152:99:0|1:63599584_C_T:127,0,5748:63599584	9	0	1	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	147.14	48	chr14	63599585	.	T	G	147.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.991;DP=620;ExcessHet=0.2348;FS=10.436;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=58.72;MQRankSum=-8.906;QD=0.48;ReadPosRankSum=-1.034;SOR=1.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,13:152:99:0|1:63599584_C_T:127,0,5748:63599584	8	0	2	0
chr14	63961523	63961523	A	C	splicing	SYNE2	NM_182914:exon9:c.788-2A>C;NM_015180:exon9:c.788-2A>C	.	.	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs918895281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171835	0.71292	D	0.00905261	0.70921	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.056538	0.84256	28.3	0.99197596119253795	0.55171	0.96624	0.70078	D	AEFGBCI	.	.	.	1.0800374621182	0.97746	16.68608	0.909362497954891	0.95968	14.15842	0.999999997553838	0.74766	0.099367	0.02607	0	0.104858	0.03167	0	0.060301	0.00762	0	0.092715	0.02821	0	0.955725	0.63519	5.97	5.97	0.96935	8.664000	0.90884	11.123000	0.86598	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.572000	0.30699	1.0:0.0:0.0:0.0	16.461	0.83887	713	0.56348	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	86.43	43	chr14	63961523	.	A	C	86.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-4.686;DP=586;ExcessHet=0;FS=94.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.85;ReadPosRankSum=0.754;SOR=6.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,20:102:98:0|1:63961521_G_T:98,0,2263:63961521	9	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	2693.57	112	chr14	64158707	.	T	C	2693.57	.	AC=8;AF=0.5;AN=16;BaseQRankSum=-2.332;DP=1280;ExcessHet=10.3881;FS=229.843;InbreedingCoeff=-0.8182;MLEAC=9;MLEAF=0.563;MQ=60;MQRankSum=0;QD=2.74;ReadPosRankSum=1.66;SOR=11.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,44:151:99:.:.:161,0,1775:.	0	0	8	2
chr14	72671174	72671174	G	A	exonic	DPF3	.	nonsynonymous SNV	DPF3:NM_001280544:exon9:c.C1201T:p.R401W,DPF3:NM_012074:exon9:c.C1036T:p.R346W,DPF3:NM_001280543:exon10:c.C1066T:p.R356W	.	375	1146	1	0	0	1	0.00043611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.0389887153411	0.0007	0.000199681	0.0015	0.0002	0.0005	0	0.0003	0.0022	0	0.0013	0.0013583	210	154602	rs202093453	0.0014	0.0014	0.0014	0.0014	0.0016	0.0013	0.0013	0.0016	0.0015	0.0001	0.0007	0.0002	5.038e-05	0.0002	0.0007	0.0016	0.0013	0.0011	0.0007	0.0007	0.0008	0.0007	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0.0009	0	0.0002	0	0.0013	0	0.0004	0.008	0.63226	D	0.009	0.66756	D	0.923	0.51194	P	0.237	0.38508	B	.	.	.	.	1	0.81001	D	.	.	.	-0.25	0.67367	T	0.25	0.04456	N	0.439	0.58798	-0.9468	0.41515	T	0.145	0.46932	T	9	0.019008636	0.00419	T	0.038989	0.58547	D	0.136	0.36778	.	.	0.110392049598	0.10638	0.18238322238515803	0.18157	0.406304590416	0.41509	0.584595441818	0.50732	T	0.008626	0.07910	T	-0.35941	0.04164	T	-0.296308	0.45112	T	0.0458012730303752	0.04748	T	0.872113	0.57861	D	.	.	.	.	.	.	.	.	-6.275	0.48524	T	.	.	0.140	0.30555	B	.;.;.;.	.;.;.;.	3.526902	0.49461	22.8	0.99885393253188948	0.96049	0.80533	0.40146	D	AEFDBI	0.695119	0.65389	D	0.136375810566896	0.48167	3.032505	0.242519510316064	0.52226	3.398774	0.999831403395873	0.43792	0.615465	0.37627	0	0.588066	0.40923	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	5.79	4.82	0.61641	1.771000	0.38172	6.948000	0.57014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.117:0.3984:0.4846	7.575	0.27098	914	0.21048	.;.;.;.	.	.	.	.	.	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	0.002014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.011364	0.05	1691.43	41	chr14	72671174	.	G	A	1691.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.121;DP=462;ExcessHet=0;FS=5.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.145;SOR=0.375	GT:AD:DP:GQ:PL	0/1:62,75:137:99:1703,0,1327	9	0	1	0
chr14	74904932	74904932	G	T	exonic	RPS6KL1	.	nonsynonymous SNV	RPS6KL1:NM_001370257:exon8:c.C812A:p.T271N,RPS6KL1:NM_001370258:exon8:c.C722A:p.T241N,RPS6KL1:NM_001370252:exon11:c.C1607A:p.T536N,RPS6KL1:NM_001370255:exon11:c.C1012A:p.L338M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0013447	35	26028	rs189688925	0	6.521e-05	0	0	.	0	0	.	.	.	.	.	0	0	.	0	0	.	0.0013	0.0013	0.0013	0.0012	0.0056	0.0011	0.0011	0.0039	0.0034	0.0002	0.0022	0.0008	0.0084	0.0002	0	0	0.0015	0.0024	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	40.98	.	chr14	74904932	.	G	T	40.98	.	AC=2;AF=0.25;AN=8;DP=6;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;QD=20.49;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	3	1	0	6
chr14	75437912	75437912	C	A	exonic	JDP2	.	nonsynonymous SNV	JDP2:NM_001135049:exon2:c.C25A:p.P9T	.	421	1072	27	2	0	31	0.0142529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	.	.	0.00958466	0.0091	0.0051	0.0035	0.0002	0.0125	0.0053	0.0047	0.0309	0.0047218	730	154602	rs201898432	0.0037	0.0038	0.0030	0.0044	0.0233	0.0036	0.0036	0.0224	0.0221	0.0045	0.0032	0.0025	0.0004	0.0084	0.0163	0.0020	0.0046	0.0233	0.0040	0.0040	0.0032	0.0047	0.0249	0.0037	0.0036	0.0213	0.0199	0.0033	0	0.0033	0.0035	0.0004	0.0093	0.0238	0.0024	0.0066	0.0249	0.012	0.54683	D	0.255	0.23365	T	.	.	.	.	.	.	.	.	.	.	0.961317	0.38228	D	.	.	.	0.38	0.57575	T	-1.27	0.31981	N	0.31	0.34981	-0.9281	0.44415	T	0.151	0.47979	T	6	0.004762739	0.00101	T	.	.	.	0.017	0.02790	.	.	0.287411543184	0.28351	0.2138663685806908	0.21302	0.52088637353	0.49874	0.456815749407	0.32874	T	.	.	.	-0.462336	0.00951	T	-0.41997	0.31078	T	0.00653995972438719	0.00073	T	0.577142	0.20757	T	.	.	.	.	.	.	.	.	-2.305	0.04582	T	.	.	0.072	0.04159	B	.	.	1.373561	0.17843	13.40	0.93609651566356189	0.23472	0.55884	0.29976	D	AEFDBI	0.149238	0.27330	N	-0.143449413581287	0.35515	2.040863	-0.164533032682119	0.32852	1.87325	0.999828912313114	0.43622	0.722319	0.85440	0	0.698795	0.70079	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.46	2.54	0.29674	0.672000	0.24868	0.902000	0.22558	0.599000	0.40250	0.251000	0.24859	0.511000	0.25257	0.745000	0.35611	0.0:0.4034:0.1787:0.4178	3.855	0.08479	274	0.89249	.	.	.	.	.	.	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	0.019289	0.000000	0.020380	0.041176	0.000000	0.025862	0.009259	0.011364	0.1	1324.14	20	chr14	75437912	.	C	A	1324.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.025;DP=267;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=23.23;ReadPosRankSum=-0.279;SOR=0.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,18:29:99:0|1:75437911_T_C:712,0,408:75437911	8	0	2	0
chr14	77027304	77027304	-	GCGGCG	exonic	IRF2BPL	.	nonframeshift insertion	IRF2BPL:NM_024496:exon1:c.488_489insCGCCGC:p.A164_V165insAA	.	.	.	.	.	.	.	.	.	.	.	1318822	not_provided|IRF2BPL-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0005	0.0002	0	0	0.0003	0	0.0051	0.0001153	3	26028	rs762944175	0.0012	0.0013	0.0010	0.0015	0.0091	0.0012	0.0012	0.0086	0.0084	0.0012	0.0008	0.0001	0.0013	0.0002	0.0046	0.0007	0.0015	0.0091	0.0012	0.0012	0.0011	0.0013	0.0090	0.0011	0.0010	0.0069	0.0061	0.0016	0	0.0006	0	0.0008	0.0002	0	0.0008	0.0010	0.0090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	4582.75	64	chr14	77027304	.	A	AGCGGCG	4582.75	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.391;DP=590;ExcessHet=7.0302;FS=1.11;InbreedingCoeff=-0.5385;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=0.853;SOR=0.685	GT:AD:DP:GQ:PL	0/1:27,22:49:99:427,0,1008	9	0	1	0
chr14	77027451	77027451	T	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	467.86	24	chr14	77027451	.	T	*	467.86	.	AC=11;AF=0.611;AN=18;DP=359;ExcessHet=5.3821;FS=3.352;InbreedingCoeff=-0.3867;MLEAC=12;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=0.339;SOR=0.49	GT:AD:DP:GQ:PL	0/1:17,16:33:99:620,0,625	0	2	7	1
chr14	87947880	87947880	T	G	splicing	GALC	NM_000153:exon13:c.1339-2A>C;NM_001201402:exon13:c.1261-2A>C;NM_001201401:exon12:c.1270-2A>C	.	.	Krabbe disease, Autosomal recessive	.	.	.	.	.	.	.	1.0000	0.804	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.048355	0.96078	35	0.96312423662121505	0.29387	0.90279	0.51329	D	AEFBI	.	.	.	0.834703617961455	0.88221	9.49745	0.637691033602847	0.77695	6.729492	0.662390159466227	0.22285	0.088506	0.02282	0	0.096993	0.02736	0	0.060301	0.00762	0	0.057018	0.00518	0	0.774629	0.45842	6.11	3.66	0.41111	2.105000	0.41449	7.874000	0.72122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.337000	0.25363	0.1223:0.0:0.127:0.7507	8.987	0.35161	920	0.19381	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	310.75	36	chr14	87947880	.	T	G	310.75	.	AC=4;AF=0.25;AN=16;BaseQRankSum=-0.474;DP=295;ExcessHet=1.8123;FS=100.949;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.313;MQ=60;MQRankSum=0;QD=2.37;ReadPosRankSum=2.59;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:27,7:34:26:.:.:26,0,520:.	4	0	4	2
chr14	92652445	92652445	A	C	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.A1171C:p.I391L,RIN3:NM_024832:exon6:c.A1396C:p.I466L	.	421	1036	60	5	0	70	0.0326797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00309365121416	0.0025	0.00299521	0.0036	0.0002	0.0029	0.0001	0.0002	0.0036	0.0033	0.0093	0.0005563	86	154602	rs139248637	0.0029	0.0029	0.0025	0.0033	0.0260	0.0028	0.0028	0.0226	0.0213	0.0004	0.0020	0.0085	0	0.0002	0.0260	0.0023	0.0039	0.0106	0.0024	0.0024	0.0024	0.0024	0.0077	0.0022	0.0021	0.0057	0.0051	0.0004	0	0.0018	0.0115	0	0.0002	0.0136	0.0033	0.0061	0.0077	0.422	0.09776	T	0.704	0.05642	T	0.001	0.07471	B	0.001	0.04355	B	0.190221	0.03245	N	1.726180	1	0.08975	N	1.7	0.43825	L	3.48	0.05130	T	-0.4	0.13805	N	0.138	0.17553	-0.9801	0.34979	T	0.009	0.03448	T	10	0.004621327	0.00096	T	0.003094	0.06696	T	0.045	0.12272	.	.	0.158396225186	0.15383	0.07307677932850949	0.07244	0.267599257895	0.29301	0.362659394741	0.19772	T	9.89E-4	0.05002	T	-0.684917	0.00045	T	-0.74865	0.03539	T	0.00979248961840315	0.00129	T	0.549145	0.18877	T	0.091709405	0.21496	0.053237252	0.08929	0.091709405	0.21496	0.053237252	0.08928	-6.483	0.50155	T	.	.	0.086	0.37501	B	.;.	.;.	0.208994	0.05926	2.368	0.79575064024098185	0.12804	0.03045	0.07938	N	AEFDGBHCI	0.063993	0.12399	N	-1.05714071227082	0.07448	0.3460229	-1.07116832256243	0.08271	0.405983	0.999999968999082	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	-3.16	0.04897	-0.702000	0.05171	0.316000	0.17134	-0.113000	0.14837	0.154000	0.23713	0.652000	0.25970	0.297000	0.24428	0.1825:0.2771:0.438:0.1024	4.308	0.10399	840	0.37365	.;.	.	.	.	.	.	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	0.017137	0.000000	0.009511	0.023392	0.050000	0.017241	0.027439	0.018939	0.1	1946.14	38	chr14	92652445	.	A	C	1946.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.44;DP=535;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.907;SOR=0.697	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1071,0,992	8	0	2	0
chr14	93928605	93928605	A	G	exonic	FAM181A	.	nonsynonymous SNV	FAM181A:NM_001207071:exon2:c.A320G:p.E107G,FAM181A:NM_001207072:exon2:c.A320G:p.E107G,FAM181A:NM_001207073:exon2:c.A320G:p.E107G,FAM181A:NM_001207074:exon2:c.A320G:p.E107G,FAM181A:NM_138344:exon3:c.A506G:p.E169G	.	345	1172	5	0	0	5	0.00212857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0145246813573	.	.	0.0001	0	0	0	0	1.522e-05	0.0011	0.0009	0.00011	17	154602	rs779476039	6.294e-05	6.293e-05	3.812e-05	8.802e-05	0.0009	5.228e-05	4.846e-05	0.0005	0.0005	2.987e-05	0	0	0	0	0.0009	1.529e-05	0.0002	0.0007	1.315e-05	1.314e-05	0	2.692e-05	0.0004	2.19e-06	8.2e-07	7.29e-05	3.029e-05	0	0	0	0	0	0	0	0	0	0.0004	0.069	0.42487	T	0.061	0.51112	T	0.649	0.40609	P	0.273	0.40007	B	0.003399	0.35013	N	0.109558	0.94086	0.37313	D	2.3	0.65703	M	1.39	0.33842	T	-1.95	0.45222	N	0.234	0.26596	-1.0488	0.14733	T	0.080	0.31645	T	10	0.032463253	0.01398	T	0.014525	0.34707	T	0.054	0.15330	0.179	0.08626	0.275641507738	0.27180	0.09136783912060598	0.09069	0.0751530220083	0.08431	0.333906710148	0.15522	T	0.059594	0.31157	T	-0.35721	0.04290	T	-0.383292	0.35335	T	0.154947764997301	0.17491	T	.	.	.	0.2386336	0.46743	0.3859755	0.63501	0.2386336	0.46743	0.3859755	0.63501	-2.849	0.08643	T	.	.	0.097	0.15654	B	.;.;.;.;.	.;.;.;.;.	3.421446	0.47512	22.5	0.99804521851733885	0.88906	0.83628	0.42733	D	AEFDBCI	0.292312	0.40322	N	-0.00164278230870515	0.41781	2.505308	0.0353019410231505	0.41368	2.48405	0.848735444952118	0.25003	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.74	3.57	0.40014	2.341000	0.43640	4.557000	0.43826	0.658000	0.54486	0.965000	0.33920	0.999000	0.35428	0.988000	0.63387	0.7041:0.2959:0.0:0.0	11.046	0.47076	407	0.82314	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	600.43	33	chr14	93928605	.	A	G	600.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.36;DP=370;ExcessHet=0;FS=1.02;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-2.262;SOR=0.982	GT:AD:DP:GQ:PL	0/1:35,24:59:99:612,0,834	9	0	1	0
chr14	94304471	94304471	C	T	exonic	SERPINA6	.	nonsynonymous SNV	SERPINA6:NM_001756:exon5:c.G1165A:p.D389N	Corticosteroid-binding globulin deficiency, Autosomal recessive, Autosomal dominant	1	1518	3	0	0	3	0.000987167	.	.	YES	32014	Corticosteroid-binding_globulin_deficiency|SERPINA6-related_disorder	MONDO:MONDO:0012675,MedGen:C1852529,OMIM:611489,Orphanet:199247|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.518	0.0969866026375	0.0004	.	0.0005	0.0002	0.0003	0	0	0.0008	0.0011	6.057e-05	0.0004592	71	154602	rs28929488	0.0003	0.0003	0.0003	0.0004	0.0026	0.0003	0.0003	0.0016	0.0013	0.0003	0.0007	0.0070	0	0	0.0026	0.0002	0.0008	3.478e-05	0.0005	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0013	0.0011	0.0001	0	0.0018	0.0058	0	0	0.0034	0.0003	0.0019	0	0.37	0.11550	T	0.148	0.32675	T	0.983	0.60381	D	0.633	0.51840	P	0.000007	0.62929	D	0.000000	0.999624	0.47904	A	2.195	0.61839	M	-2.52	0.89363	D	-3.38	0.66780	D	0.357	0.39861	0.294	0.87458	D	0.655	0.88008	D	9	0.013436496	0.00285	T	0.096987	0.76697	D	0.518	0.79461	.	.	0.914113986128	0.91325	0.6811136844890201	0.68050	0.451884164349	0.44925	0.47656416893	0.35584	T	0.655655	0.89604	D	-0.28731	0.09907	T	-0.264739	0.48350	T	0.168483659625053	0.18477	T	.	.	.	0.7294336	0.79691	0.4070754	0.65062	0.75568056	0.81201	0.4333246	0.66889	-5.417	0.41083	T	0.4229849335262414	0.51145	0.417	0.60496	A	.	.	3.108687	0.41921	21.4	0.99681671729183963	0.79307	0.97281	0.73769	D	AEFBI	0.784946	0.71547	D	-0.0884701183213852	0.37898	2.211554	-0.183397560427683	0.32146	1.825983	0.999608245388493	0.40866	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.83	3.93	0.44666	3.956000	0.56429	1.383000	0.26051	0.599000	0.40250	0.997000	0.40164	0.774000	0.26724	0.588000	0.31090	0.0:0.8426:0.1574:0.0	13.467	0.60716	929	0.16858	Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.015152	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1520.43	34	chr14	94304471	.	C	T	1520.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.264;DP=452;ExcessHet=0;FS=1.452;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.111;SOR=0.895	GT:AD:DP:GQ:PL	0/1:66,63:129:99:1532,0,1596	9	0	1	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin 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	.	.	.	.	.	.	.	.	0.5	4095.04	116	chr14	94497802	.	C	T	4095.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.987;DP=1206;ExcessHet=22.563;FS=233.998;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.59;ReadPosRankSum=0.204;SOR=12.109	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:59,32:91:99:.:.:216,0,968:.	0	0	10	0
chr14	94622394	94622394	T	C	exonic	SERPINA3	.	nonsynonymous SNV	SERPINA3:NM_001085:exon4:c.T971C:p.L324P,SERPINA3:NM_001384672:exon4:c.T971C:p.L324P,SERPINA3:NM_001384673:exon5:c.T971C:p.L324P,SERPINA3:NM_001384674:exon5:c.T971C:p.L324P	Alpha-1-antichymotrypsin deficiency (3);Cerebrovascular disease, occlusive (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.744	0.228620223338	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs771744525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.575e-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	0.0	0.91255	D	0.021	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.008616	0.30756	N	0.138902	1	0.81001	D	4.23	0.97958	H	-2.59	0.89822	D	-6.76	0.92736	D	0.89	0.89020	1.027	0.97666	D	0.896	0.96542	D	10	0.98785365	0.99173	D	0.22862	0.88146	D	0.744	0.91155	0.838	0.94479	0.990774516803	0.99067	0.9133171632010527	0.91305	0.0706069507822	0.07910	0.458704322577	0.33133	T	0.784691	0.94348	D	0.461126	0.92975	D	0.424599	0.92886	D	0.987004697322845	0.77589	D	0.526647	0.17353	T	0.97083473	0.98338	0.92233944	0.96562	0.97083473	0.98338	0.92233944	0.96563	-10.837	0.78756	D	0.7333714435569497	0.81513	0.721	0.76533	P	.;.;.;.	.;.;.;.	3.878883	0.56368	23.7	0.99714451142129035	0.81563	0.96174	0.67873	D	AEFBHCI	0.987770	0.99983	D	0.637291531387056	0.75548	6.325616	0.394311554711554	0.61214	4.318349	0.999999999952777	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.6	4.6	0.56512	7.619000	0.82253	5.868000	0.50503	0.665000	0.62972	0.995000	0.38783	0.964000	0.29435	0.004000	0.06068	0.0:0.0:0.0:1.0	12.962	0.57866	764	0.49969	Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin domain;Serpin domain|Serpin 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	.	.	.	.	.	.	.	.	0.05	1822.43	34	chr14	94622394	.	T	C	1822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.715;DP=532;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.41;ReadPosRankSum=1.15;SOR=0.688	GT:AD:DP:GQ:PL	0/1:92,83:175:99:1834,0,2215	9	0	1	0
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.95	18756.2	63	chr15	22081297	.	T	C	18756.2	.	AC=19;AF=0.95;AN=20;BaseQRankSum=7.91;DP=859;ExcessHet=0;FS=81.645;InbreedingCoeff=-0.0526;MLEAC=19;MLEAF=0.95;MQ=36.89;MQRankSum=-2.175;QD=23.98;ReadPosRankSum=1.65;SOR=5.13	GT:AD:DP:GQ:PL	1/1:0,14:14:42:425,42,0	0	9	1	0
chr15	22769366	22769366	T	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	712	800	2	7	1	17	0.00990099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0008	0.0008	0.0008	0.0016	0.0007	0.0006	0.0008	0.0007	0.0002	0	0.0011	0.0029	0.0002	0.0007	0.0039	0.0010	0.0021	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	118.81	2	chr15	22769365	.	CT	C	118.81	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.056;MQ=52.79;MQRankSum=-0.831;QD=6.99;ReadPosRankSum=-0.475;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,5:11:56:0|1:22769365_CT_C:214,56,129:22769365	8	0	1	1
chr15	22769365	22769366	CT	0	exonic	GOLGA6L7	.	.	.	.	712	800	2	7	1	17	0.00990099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	118.81	2	chr15	22769365	.	CT	*	118.81	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=5;MLEAF=0.278;MQ=52.79;MQRankSum=-0.831;QD=6.99;ReadPosRankSum=-0.475;SOR=0.595	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,5:11:56:0|1:22769365_CT_C:214,131,153:22769365	6	2	1	1
chr15	22769369	22769388	CGCATCTGCTCCTCCTGCTT	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	718	794	2	7	1	17	0.00997506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0008	0.0008	0.0007	0.0017	0.0007	0.0006	0.0008	0.0006	0.0002	0	0.0011	0.0029	0.0002	0.0007	0.0039	0.0009	0.0021	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	119.3	5	chr15	22769368	.	CCGCATCTGCTCCTCCTGCTT	C	119.3	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=1;MLEAF=0.063;MQ=49.16;MQRankSum=-0.831;QD=7.95;ReadPosRankSum=-0.475;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,5:11:56:0|1:22769365_CT_C:214,56,129:22769365	7	0	1	2
chr15	22769368	22769388	CCGCATCTGCTCCTCCTGCTT	0	exonic	GOLGA6L7	.	.	.	.	718	794	2	7	1	17	0.00997506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	119.3	5	chr15	22769368	.	CCGCATCTGCTCCTCCTGCTT	*	119.3	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.674;DP=50;ExcessHet=0;FS=3.31;MLEAC=3;MLEAF=0.188;MQ=49.16;MQRankSum=-0.831;QD=7.95;ReadPosRankSum=-0.475;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,5:11:56:0|1:22769365_CT_C:214,131,153:22769365	6	1	1	2
chr15	23364400	23364400	C	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon15:c.C766A:p.Q256K	.	48	1435	31	2	6	41	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00481352493947	.	0.00299521	0.0033	0.0060	0.0025	0.0011	0.0026	0.0038	0.0069	0.0018	0.0028137	435	154602	rs190023905	0.0018	0.0029	0.0017	0.0019	0.0181	0.0018	0.0017	0.0152	0.0141	0.0021	0.0015	0.0135	0.0006	0.0021	0.0181	0.0015	0.0025	0.0015	0.0015	0.0024	0.0015	0.0015	0.0016	0.0013	0.0013	0.0013	0.0012	0.0003	0	0.0016	0.0135	0.0012	0.0019	0.0207	0.0015	0.0010	0.0013	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.57	0.89692	D	-0.18	0.09796	N	0.184	0.19995	.	.	.	.	.	.	.	0.004205942	0.00084	T	0.004814	0.12035	T	.	.	.	.	0.86273415683	0.86140	0.3669056785769498	0.36604	0.763659519793	0.64390	.	.	.	.	.	.	-0.305839	0.08119	T	-0.231107	0.51665	T	.	.	.	0.476552	0.14308	T	0.04579843	0.07558	0.04903152	0.07407	0.04579843	0.07558	0.04903152	0.07407	-3.619	0.18132	T	.	.	0.075	0.05668	B	.	.	0.292315	0.06685	3.189	0.58087947744829294	0.05914	0.28105	0.23462	N	AEFCI	0.187209	0.31450	N	.	.	.	.	.	.	1.42962172204828E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.83	-0.343	0.12004	0.830000	0.27115	1.532000	0.27166	0.278000	0.18600	1.000000	0.71638	0.003000	0.18671	0.001000	0.02609	0.0:0.7074:0.2926:0.0	6.797	0.22917	988	0.01987	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	448.43	74	chr15	23364400	.	C	A	448.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.992;DP=702;ExcessHet=0;FS=2.831;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.4;MQRankSum=-7.547;QD=1.71;ReadPosRankSum=-0.383;SOR=0.92	GT:AD:DP:GQ:PL	0/1:217,46:263:99:460,0,5635	9	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14334.1	129	chr15	23440492	.	C	*	14334.1	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.467;DP=1215;ExcessHet=0;FS=0.964;InbreedingCoeff=-0.0526;MLEAC=10;MLEAF=0.5;MQ=58.42;MQRankSum=-0.924;QD=12.2;ReadPosRankSum=0.063;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,61:115:99:.:.:4094,1689,2055:.	0	0	10	0
chr15	26773694	26773694	G	A	exonic	GABRB3	.	nonsynonymous SNV	GABRB3:NM_021912:exon1:c.C31T:p.P11S	Epileptic encephalopathy, early infantile, 43, Autosomal dominant	5	1504	12	1	0	14	0.00463269	.	.	.	31230	Developmental_and_epileptic_encephalopathy,_43|Epilepsy,_childhood_absence,_susceptibility_to,_5|Epilepsy,_childhood_absence,_susceptibility_to,_1|not_specified|not_provided|GABRB3-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0014921,MedGen:C4310712,OMIM:617113|MONDO:MONDO:0012843,MedGen:C2677087,OMIM:612269,Orphanet:64280|MONDO:MONDO:0020759,MedGen:C1838604,OMIM:600131,Orphanet:64280|MedGen:CN169374|MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.438	.	0.0039	0.00199681	0.0058	0.0009	0.0065	0	0.0041	0.0117	0.0052	0.0012	0.0021539	333	154602	rs25409	0.0044	0.0044	0.0045	0.0044	0.0051	0.0044	0.0043	0.0050	0.0050	0.0011	0.0034	0.0047	0	0.0008	0.0035	0.0051	0.0048	0.0011	0.0035	0.0035	0.0037	0.0033	0.0055	0.0033	0.0032	0.0050	0.0048	0.0010	0	0.0050	0.0049	0.0002	0.0009	0	0.0055	0.0047	0.0008	0.703	0.04134	T	0.754	0.04737	T	0.137	0.27402	B	0.051	0.25434	B	.	.	.	.	1	0.21100	N	.	.	.	-1.26	0.79176	T	0.49	0.02993	N	0.192	0.21056	-0.9878	0.33151	T	0.130	0.43948	T	9	0.006672621	0.00151	T	.	.	.	0.438	0.74235	.	.	0.965383053836	0.96501	.	.	.	.	.	.	.	.	.	.	-0.228672	0.16824	T	-0.100569	0.63354	T	0.00286184766769854	0.00030	T	0.439356	0.12115	T	.	.	.	.	.	.	.	.	-2.777	0.07973	T	.	.	0.120	0.24800	B	.	.	2.042696	0.25964	16.95	0.94548676295998924	0.25062	0.19128	0.20539	N	AEFDBHCI	0.038635	0.05498	N	-0.894978605461365	0.10961	0.5264763	-0.837710087912879	0.13584	0.7054426	0.999998109071838	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.504199	0.09095	0	0.562822	0.20929	0	.	.	3.1	2.18	0.26813	1.084000	0.30439	3.201000	0.36751	0.608000	0.46601	0.022000	0.19841	1.000000	0.68203	0.967000	0.53440	0.1227:0.0:0.8773:0.0	8.450	0.32028	748	0.52143	.	.	.	.	.	.	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	0.004692	0.000000	0.001389	0.000000	0.000000	0.026316	0.012987	0.003846	0.05	284.43	33	chr15	26773694	.	G	A	284.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.645;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.53;ReadPosRankSum=0.437;SOR=0.818	GT:AD:DP:GQ:PL	0/1:13,14:27:99:296,0,292	9	0	1	0
chr15	30910758	30910758	G	A	exonic	FAN1	.	nonsynonymous SNV	FAN1:NM_001146094:exon4:c.G1520A:p.R507H,FAN1:NM_001146095:exon4:c.G1520A:p.R507H,FAN1:NM_001146096:exon4:c.G1520A:p.R507H,FAN1:NM_014967:exon4:c.G1520A:p.R507H	Interstitial nephritis, karyomegalic, Autosomal recessive	9	1493	20	0	0	20	0.00665336	.	.	.	611371	not_provided|Karyomegalic_interstitial_nephritis	MedGen:C3661900|MONDO:MONDO:0013898,MedGen:C3553774,OMIM:614817,Orphanet:401996	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.107	0.0189717690026	0.0057	0.00279553	0.0062	0.0012	0.0046	0.0002	0.0051	0.0086	0.0066	0.0042	0.0063324	979	154602	rs150393409	0.0092	0.0092	0.0093	0.0091	0.0106	0.0091	0.0090	0.0105	0.0104	0.0016	0.0048	0.0105	0.0015	0.0044	0.0050	0.0106	0.0077	0.0035	0.0060	0.0061	0.0066	0.0054	0.0099	0.0057	0.0056	0.0093	0.0090	0.0015	0	0.0046	0.0061	0.0006	0.0054	0.0034	0.0099	0.0085	0.0027	0.03	0.47320	D	0.048	0.48594	D	0.911	0.50336	P	0.3	0.41053	B	0.000974	0.40836	D	0.243693	0.996834	0.43448	D	2.27	0.64531	M	1.02	0.40749	T	-2.8	0.59226	D	0.15	0.23125	-0.9468	0.41515	T	0.081	0.32060	T	10	0.008552343	0.00194	T	0.018972	0.41201	T	0.107	0.30369	.	.	0.430351802785	0.42654	0.2506191388239531	0.24975	0.466306968941	0.46040	0.266212940216	0.05654	T	0.111564	0.42715	T	-0.452893	0.01086	T	-0.415935	0.31542	T	0.0192811211148672	0.00634	T	0.894511	0.63379	D	0.21203284	0.43545	0.11507595	0.27778	0.14459923	0.33183	0.11507595	0.27778	-5.903	0.45461	T	.	.	0.119	0.35498	B	.;.;.;.	.;.;.;.	3.545172	0.49806	22.8	0.99483325144131241	0.67014	0.86753	0.46102	D	AEFBI	0.140817	0.26281	N	-0.0498798670126982	0.39607	2.338475	-0.0486470361801252	0.37550	2.200037	0.0108064517527047	0.12084	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.59	2.62	0.30337	3.428000	0.52560	4.431000	0.43351	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.915000	0.45038	0.0:0.1695:0.8305:0.0	17.667	0.88109	856	0.34373	.;.;.;.	.	.	.	.	rs150393409	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	.	.	.	.	.	.	.	.	0.05	564.43	34	chr15	30910758	.	G	A	564.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.042;DP=386;ExcessHet=0;FS=2.041;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.42;ReadPosRankSum=0.601;SOR=0.605	GT:AD:DP:GQ:PL	0/1:40,27:67:99:576,0,933	9	0	1	0
chr15	40902923	40902923	G	A	exonic	VPS18	.	nonsynonymous SNV	VPS18:NM_020857:exon5:c.G2504A:p.R835Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	3491374	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.00477425958629	0.0005	.	0.0003	0	0	0	0.0002	0.0005	0.0011	0	0.0002717	42	154602	rs200156144	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0005	0.0004	5.974e-05	0.0001	0	0	1.873e-05	0.0003	0.0005	0.0003	2.319e-05	0.0002	0.0002	0.0003	0.0002	0.0005	0.0002	0.0001	0.0004	0.0003	2.411e-05	0	0	0	0	0	0	0.0005	0	0	0.341	0.12673	T	0.406	0.14725	T	0.0	0.02946	B	0.001	0.04355	B	0.003752	0.34535	N	0.292780	0.909388	0.27539	N	-0.565	0.02318	N	1.02	0.40749	T	0.89	0.01641	N	0.137	0.13484	-1.0710	0.09194	T	0.034	0.14769	T	10	0.02867952	0.00998	T	0.004774	0.11910	T	0.071	0.20720	.	.	0.082315109003	0.07666	0.16780296062368244	0.16700	0.421723341277	0.42675	0.437890708447	0.30290	T	0.034749	0.23446	T	-0.554562	0.00274	T	-0.682648	0.06822	T	0.0461695204262542	0.04815	T	0.824018	0.48536	T	0.043190714	0.06686	0.042348504	0.05024	0.043190714	0.06685	0.042348504	0.05024	-3.112	0.11434	T	.	.	0.063	0.01408	B	.	.	3.190262	0.43345	21.7	0.99227949580435149	0.56120	0.85086	0.44190	D	AEFDGBCIJ	.	.	.	-0.393186115568472	0.25711	1.397752	-0.131578729707392	0.34124	1.95948	0.99999990218152	0.74766	0.645754	0.44609	0	0.696144	0.67643	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.76	3.89	0.44098	5.314000	0.65589	6.486000	0.55748	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.3717:0.0:0.6283:0.0	5.380	0.15485	188	0.92666	.	.	.	.	.	.	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	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	5711.14	38	chr15	40902923	.	G	A	5711.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.71;DP=679;ExcessHet=0.2348;FS=2.216;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=1.31;SOR=0.723	GT:AD:DP:GQ:PL	0/1:78,108:186:99:2833,0,1791	8	0	2	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	593.56	70	chr15	51480616	.	G	C	593.56	.	AC=4;AF=0.4;AN=10;BaseQRankSum=-4.018;DP=832;ExcessHet=1.5895;FS=461.254;InbreedingCoeff=-0.4816;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.28;SOR=10.188	GT:AD:DP:GQ:PL	0/1:72,38:110:99:99,0,1197	1	0	4	5
chr15	62164450	62164450	C	T	exonic	C2CD4B	.	nonsynonymous SNV	C2CD4B:NM_001007595:exon2:c.G535A:p.V179I	.	443	1078	1	0	0	1	0.000463607	.	.	.	2333039	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.042	.	.	.	0.0030	0	0.1	0	.	0.0089	0	0	3.88e-05	6	154602	rs760521041	0.0003	0.0003	0.0003	0.0003	0.0048	0.0003	0.0002	0.0041	0.0038	0.0048	0.0012	0.0005	0	0	0.0025	0.0002	0.0008	5.156e-05	0.0017	0.0017	0.0017	0.0018	0.0044	0.0016	0.0015	0.0039	0.0037	0.0044	0	0.0036	0.0009	0	0	0.0171	0.0002	0.0024	0	0.038	0.42783	D	0.007	0.69154	D	0.186	0.29254	B	0.015	0.17295	B	0.125124	0.18854	N	0.517343	0.999996	0.08975	N	0.405	0.12330	N	1.55	0.29866	T	-0.42	0.14193	N	0.026	0.00527	-1.0684	0.09768	T	0.038	0.16462	T	10	0.0034444034	0.00061	T	.	.	.	0.042	0.11227	.	.	0.220303561663	0.21668	0.11870272283372195	0.11797	0.690347448595	0.60529	0.875917315483	0.93403	D	0.005074	0.04506	T	-0.660411	0.00062	T	-0.723517	0.04627	T	0.119454200249619	0.14376	T	0.408959	0.10549	T	0.084989645	0.19694	0.17766228	0.40383	0.084989645	0.19694	0.17766228	0.40382	-4.873	0.35430	T	.	.	0.159	0.35183	B	.	.	2.081612	0.26473	17.13	0.9838386006813955	0.40884	0.53743	0.29446	D	AEFDBCI	0.137939	0.25908	N	-0.527219565076566	0.21203	1.123555	-0.453760182132292	0.23442	1.27844	0.999956896807463	0.48110	0.437478	0.07067	0	0.59043	0.45803	0	0.606814	0.37721	0	0.492483	0.08430	1	.	.	3.26	3.26	0.36471	-0.157000	0.10072	2.339000	0.32242	0.431000	0.20936	0.060000	0.21767	1.000000	0.68203	0.088000	0.17685	0.0:0.8465:0.0:0.1535	5.948	0.18468	279	0.89001	.	.	.	.	.	.	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	0.007426	0.007576	0.020115	0.003906	0.000000	0.000000	0.000000	0.000000	0.05	166.55	25	chr15	62164450	.	C	T	166.55	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.86;DP=180;ExcessHet=0;FS=0;InbreedingCoeff=-0.0623;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.1;ReadPosRankSum=-1.257;SOR=0.495	GT:AD:DP:GQ:PL	0/1:7,8:15:99:178,0,135	9	0	1	0
chr15	65463858	65463858	G	T	exonic	DPP8	.	nonsynonymous SNV	DPP8:NM_001320876:exon15:c.C1874A:p.T625N,DPP8:NM_017743:exon15:c.C1874A:p.T625N,DPP8:NM_130434:exon15:c.C1874A:p.T625N,DPP8:NM_001320875:exon16:c.C1922A:p.T641N,DPP8:NM_197960:exon16:c.C1922A:p.T641N,DPP8:NM_197961:exon16:c.C1922A:p.T641N	.	425	1083	14	0	0	14	0.00642202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0035890453029	0.0018	0.000199681	0.0018	0.0002	0.0013	0	0.0003	0.0027	0.0045	0.0009	0.0015847	245	154602	rs142999124	0.0013	0.0014	0.0013	0.0014	0.0097	0.0013	0.0013	0.0076	0.0069	0.0008	0.0009	0.0176	0	0.0002	0.0097	0.0010	0.0027	0.0011	0.0012	0.0012	0.0013	0.0010	0.0013	0.0010	0.0010	0.0011	0.0010	0.0001	0	0.0008	0.0181	0	0.0002	0.0034	0.0013	0.0019	0.0010	0.18	0.28646	T	0.111	0.37173	T	0.002	0.38282	B	0.007	0.32546	B	0.002144	0.37138	N	0.216685	0.578254	0.31121	N	0.77	0.19370	N	0.95	0.43279	T	-0.81	0.22727	N	0.175	0.38027	-0.9997	0.30002	T	0.063	0.26244	T	10	0.0043184757	0.00087	T	0.003589	0.08216	T	0.018	0.03083	.	.	0.182106788282	0.17826	0.6628880508816588	0.66225	1.19930797931	0.80486	0.644894361496	0.59260	T	0.160313	0.50411	T	-0.493858	0.00619	T	-0.501183	0.22226	T	0.00935596916476624	0.00119	T	0.886111	0.61533	D	0.14589919	0.33424	0.10668424	0.25671	0.14589919	0.33423	0.10668424	0.25670	-5.961	0.46171	T	.	.	0.073	0.07365	B	.;.;.;.;.	.;.;.;.;.	3.759839	0.53945	23.4	0.98265554205842176	0.39713	0.89662	0.50270	D	AEFBI	0.386611	0.46691	N	0.00754157976083478	0.42198	2.53802	0.231519692596689	0.51603	3.341568	0.14871461698722	0.17403	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	4.833000	0.62456	11.772000	0.95887	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1383:0.8617:0.0	15.416	0.74694	450	0.79359	.;.;.;.;.	.	.	.	.	.	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	0.017120	0.005051	0.016304	0.023392	0.000000	0.043103	0.015244	0.015152	0.05	696.43	34	chr15	65463858	.	G	T	696.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.262;DP=401;ExcessHet=0;FS=3.331;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=0.051;SOR=1.139	GT:AD:DP:GQ:PL	0/1:35,31:66:99:708,0,818	9	0	1	0
chr15	69360111	69360113	AGC	-	exonic	PAQR5	.	nonframeshift deletion	PAQR5:NM_001104554:exon3:c.31_33del:p.S11del,PAQR5:NM_017705:exon3:c.31_33del:p.S11del	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00159744	0.0006	0	0	0	0	0	0.0022	0.0039	0.0004851	75	154602	rs563457843	0.0002	0.0002	9.939e-05	0.0003	0.0034	0.0002	0.0002	0.0031	0.0030	0	0	0	0	0	0	8.995e-07	0.0002	0.0034	0.0001	0.0001	5.14e-05	0.0002	0.0035	7.572e-05	6.278e-05	0.0022	0.0018	0	0	0	0	0	0	0	1.47e-05	0	0.0035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	2789.39	38	chr15	69360110	.	TAGC	T	2789.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.461;DP=464;ExcessHet=0;FS=3.901;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=19.11;ReadPosRankSum=0.065;SOR=0.532	GT:AD:DP:GQ:PL	0/1:74,72:146:99:2801,0,2883	9	0	1	0
chr15	72221189	72221189	C	G	exonic	PKM	.	nonsynonymous SNV	PKM:NM_001206796:exon2:c.G188C:p.S63T,PKM:NM_001206798:exon2:c.G13C:p.A5P	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.369	0.581159818659	.	0.000199681	0.0018	0.0053	0	0	.	0.0033	0	0.0012	0.0001488	23	154602	rs546024325	0.0002	0.0002	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0006	3.168e-05	2.801e-05	0.0015	0	0	0.0005	9.463e-05	0.0002	0.0009	8.535e-05	8.53e-05	7.709e-05	9.399e-05	0.0004	4.953e-05	3.96e-05	7.287e-05	3.339e-05	0	0	0	0.0012	0	0	0	0.0001	0	0.0004	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999961	0.58761	D	.	.	.	-6.36	0.99669	D	-0.32	0.12283	N	0.293	0.33140	0.726	0.93491	D	0.940	0.98037	D	8	0.008797348	0.00199	T	0.58116	0.96247	D	0.369	0.68844	0.05	0.00095	0.761641644283	0.75947	.	.	.	.	.	.	.	.	.	.	0.0570674	0.59244	T	0.232492	0.84790	D	0.0564586306667866	0.06600	T	0.450355	0.12714	T	.	.	.	.	.	.	.	.	-2.878	0.08925	T	.	.	0.076	0.05890	B	.	.	2.117840	0.26958	17.30	0.99337339201919062	0.60012	0.65816	0.32865	D	AEFDBHCI	0.218192	0.34323	N	-0.632174880114968	0.17983	0.9300324	-0.581356363155171	0.19980	1.074386	0.999999219235307	0.74766	0.489673	0.17934	0	0.71359	0.82159	0	0.575934	0.27490	0	0.508809	0.08732	0	.	.	4.57	-1.77	0.07551	0.169000	0.16457	0.061000	0.14131	-0.202000	0.08738	0.998000	0.41325	0.924000	0.28388	0.673000	0.33338	0.1551:0.4024:0.0:0.4425	4.272	0.10240	206	0.91974	.	.	.	.	.	.	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	0.001543	0.000000	0.000000	0.006098	0.000000	0.000000	0.000000	0.000000	0.1	1612.14	33	chr15	72221189	.	C	G	1612.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.5;DP=482;ExcessHet=0.2348;FS=5.119;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.35;ReadPosRankSum=1.55;SOR=0.61	GT:AD:DP:GQ:PL	0/1:58,40:98:99:762,0,1358	8	0	2	0
chr15	74722964	74722964	C	T	exonic	CYP1A1	.	nonsynonymous SNV	CYP1A1:NM_000499:exon2:c.G134A:p.G45D,CYP1A1:NM_001319216:exon2:c.G134A:p.G45D,CYP1A1:NM_001319217:exon2:c.G134A:p.G45D	.	0	1515	7	0	0	7	0.00230491	.	.	.	3200475	CYP1A1-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.279	.	0.0002	0.0241613	0.0104	0.0002	0.0002	0.1409	0	1.502e-05	0.0067	0.0019	0.0095794	1481	154602	rs4646422	0.0045	0.0045	0.0046	0.0043	0.1461	0.0044	0.0044	0.1430	0.1417	0.0001	0.0003	0	0.1461	1.872e-05	0.0005	5.576e-05	0.0080	0.0022	0.0049	0.0050	0.0042	0.0057	0.1324	0.0046	0.0045	0.1242	0.1209	0.0003	0	0.0008	0	0.1324	0	0	5.879e-05	0.0052	0.0060	0.043	0.43708	D	0.038	0.53072	D	0.851	0.46962	P	0.72	0.54860	P	0.000183	0.48115	D	0.210758	0.874727	0.81001	D	3.845	0.95734	H	-0.36	0.68754	T	-2.47	0.53898	N	0.507	0.54671	-0.6314	0.63511	T	0.014	0.05561	T	10	0.0020495355	0.00029	T	.	.	.	0.279	0.59619	.	.	.	.	0.7607797247847745	0.76025	0.202067841752	0.22620	0.391331404448	0.23857	T	0.082776	0.83368	T	-0.377481	0.03231	T	-0.185182	0.56040	T	0.128410049090767	0.15234	T	0.675032	0.28809	T	0.8645542	0.88435	0.73740804	0.84479	0.8645542	0.88436	0.73740804	0.84480	-10.372	0.76109	D	.	.	0.604	0.71091	P	.;.;.;.;.;.	.;.;.;.;.;.	3.442738	0.47899	22.5	0.99732796145374225	0.82904	0.50740	0.28733	D	AEFBI	0.531654	0.55184	D	0.461799244060214	0.64876	4.752249	0.322070521907152	0.56840	3.847941	0.999992632049512	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.64	4.7	0.58776	2.969000	0.48924	1.515000	0.27051	0.596000	0.33519	0.780000	0.29473	0.994000	0.32194	0.360000	0.25886	0.0:0.7781:0.2219:0.0	16.259	0.82356	492	0.76569	.;.;.;.;.;.	.	.	.	.	.	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	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	1544.43	33	chr15	74722964	.	C	T	1544.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.564;DP=438;ExcessHet=0;FS=0.694;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.98;ReadPosRankSum=0.774;SOR=0.591	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1556,0,1644	9	0	1	0
chr15	75689209	75689209	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1856A:p.R619Q	.	415	1097	10	0	0	10	0.00453721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	0.0061	0.0233626	0.0127	0.0126	0.0298	0.0915	0.0005	0.0019	0.0048	0.0053	0.0112418	1738	154602	rs4886730	0.0057	0.0057	0.0059	0.0056	0.0949	0.0056	0.0056	0.0924	0.0914	0.0131	0.0249	0.0018	0.0949	9.647e-05	0.0029	0.0018	0.0080	0.0057	0.0094	0.0094	0.0094	0.0094	0.0921	0.0090	0.0088	0.0853	0.0826	0.0128	0	0.0138	0.0035	0.0921	0.0002	0	0.0020	0.0123	0.0071	0.135	0.26192	T	0.16	0.31427	T	0.572	0.38625	P	0.059	0.26602	B	0.158551	0.17736	N	0.490245	0.985886	0.40348	D	1.335	0.33326	L	2.21	0.18414	T	-0.65	0.18877	N	0.062	0.03392	-0.9323	0.43799	T	0.001	0.00255	T	10	0.0024222136	0.00036	T	.	.	.	0.055	0.15663	.	.	.	.	0.33910709659138527	0.33823	0.408968694635	0.41722	0.227463632822	0.01785	T	0.056399	0.30278	T	-0.749095	0.00018	T	-0.772234	0.02695	T	0.00311949228406574	0.00033	T	0.647535	0.25853	T	0.033190373	0.03488	0.06330561	0.12520	0.033190373	0.03488	0.06330561	0.12520	-2.875	0.08896	T	.	.	0.068	0.02797	B	.	.	-0.159430	0.03305	0.572	0.96086268997248214	0.28668	0.27454	0.23282	N	AEFBI	0.188092	0.31538	N	-1.13555296859083	0.06021	0.2760884	-1.25019338582792	0.05128	0.2436221	0.970823662265543	0.29237	0.59774	0.34471	0	0.588066	0.40923	0	0.576033	0.28219	0	0.63947	0.58350	0	.	.	5.35	-4.73	0.03022	-0.102000	0.10926	-5.671000	0.01636	-1.943000	0.00489	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.1004:0.39:0.1964:0.3132	2.259	0.03814	162	0.93704	.	.	.	.	.	.	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	0.007143	0.000000	0.012329	0.012605	0.000000	0.000000	0.000000	0.007874	0.05	1262.43	33	chr15	75689209	.	C	T	1262.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.657;DP=421;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.64;MQRankSum=0.512;QD=15.4;ReadPosRankSum=0.783;SOR=0.65	GT:AD:DP:GQ:PL	0/1:28,54:82:99:1274,0,599	9	0	1	0
chr15	78101010	78101010	C	T	exonic	SH2D7	.	nonsynonymous SNV	SH2D7:NM_001101404:exon5:c.C757T:p.R253W	.	417	1099	5	1	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.027204006025	0.0026	0.000599042	0.0024	0.0009	0.0006	0	0.0012	0.0033	0.0023	0.0025	0.0023092	357	154602	rs181099810	0.0034	0.0034	0.0034	0.0034	0.0039	0.0033	0.0033	0.0038	0.0038	0.0009	0.0009	0.0013	5.038e-05	0.0005	0.0023	0.0039	0.0028	0.0030	0.0023	0.0023	0.0027	0.0019	0.0041	0.0021	0.0020	0.0037	0.0035	0.0008	0	0.0013	0.0009	0.0002	0.0008	0	0.0041	0.0019	0.0012	0.004	0.78490	D	0.009	0.66756	D	0.993	0.65571	D	0.446	0.45959	B	0.997634	0.07987	N	0.998204	1	0.08975	N	1.59	0.40313	L	1.37	0.34253	T	-5.18	0.83557	D	0.327	0.40963	-1.0347	0.18951	T	0.062	0.25672	T	10	0.0066726506	0.00151	T	0.027204	0.50045	D	0.061	0.17616	.	.	0.269111216191	0.26524	0.4564531384228855	0.45563	0.210751915057	0.23571	0.270879477262	0.06256	T	0.019145	0.15304	T	-0.513744	0.00478	T	-0.510878	0.21226	T	0.0493256645745036	0.05381	T	0.770723	0.40088	T	0.097785234	0.23055	0.09278537	0.21884	0.097785234	0.23055	0.09278537	0.21883	-7.051	0.54405	T	.	.	0.120	0.24733	B	.;.	.;.	1.721730	0.21921	15.40	0.99406286898487295	0.63075	0.06576	0.12591	N	AEFDGBI	0.151291	0.27575	N	-0.677314332438991	0.16670	0.8513137	-0.809881757423486	0.14256	0.7439816	0.997309824840635	0.35478	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.78	1.02	0.19102	0.160000	0.16278	-0.951000	0.06813	-1.001000	0.01808	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.4347:0.4044:0.1608:0.0	6.611	0.21948	790	0.46189	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	2271.14	36	chr15	78101010	.	C	T	2271.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.41;DP=482;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=1.84;SOR=0.734	GT:AD:DP:GQ:PL	0/1:50,48:98:99:1056,0,1113	8	0	2	0
chr15	78168982	78168982	C	T	exonic	IDH3A	.	nonsynonymous SNV	IDH3A:NM_005530:exon11:c.C1078T:p.R360C	.	437	1082	3	0	0	3	0.0013844	.	.	.	1145476	IDH3A-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.174	0.0413373250293	0.0042	0.000998403	0.0022	0.0011	0.0014	0	0.0008	0.0034	0.0022	0.0002	0.0022251	344	154602	rs116374996	0.0044	0.0044	0.0045	0.0042	0.0053	0.0043	0.0043	0.0052	0.0051	0.0005	0.0018	0.0018	2.538e-05	0.0009	0.0049	0.0053	0.0046	0.0002	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0042	0.0041	0.0009	0.0011	0.0018	0.0023	0.0002	0.0007	0	0.0046	0.0038	0.0004	0.007	0.59928	D	0.017	0.67890	D	0.452	0.36118	B	0.205	0.37080	B	0.002613	0.36243	N	0.339765	1	0.81001	D	2.73	0.79844	M	0.48	0.55945	T	-2.65	0.60827	D	0.399	0.45520	-0.6680	0.61919	T	0.160	0.49447	T	10	0.011196941	0.00246	T	0.041337	0.59872	D	0.174	0.44019	.	.	0.750285348381	0.74802	0.6740994769403064	0.67347	1.44831164804	0.86095	0.288558244705	0.08713	T	0.59691	0.87024	D	-0.350836	0.04675	T	-0.275637	0.47248	T	0.0395214842948589	0.03604	T	0.927007	0.73102	D	0.24317315	0.47253	0.12204911	0.29443	0.24317315	0.47252	0.12204911	0.29442	-7.86	0.60112	D	0.3734515709622747	0.46871	0.147	0.41357	B	.;.;.	.;.;.	4.317259	0.66045	24.9	0.99908517576624323	0.97875	0.97845	0.77560	D	AEFDBI	0.771936	0.70641	D	0.344219240845876	0.58435	4.015714	0.413765191885411	0.62420	4.457244	0.999999889367069	0.74766	0.75658	0.98901	0	0.858454	0.99946	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.17	5.26	0.73479	3.502000	0.53092	1.798000	0.28858	0.599000	0.40250	1.000000	0.71638	0.948000	0.28948	0.997000	0.79791	0.1273:0.8057:0.0:0.067	11.206	0.47995	804	0.43891	.;.;.	.	.	.	.	.	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	0	0	1	0	0.003021	0.005051	0.001359	0.014620	0.000000	0.000000	0.000000	0.000000	0.1	1875.14	37	chr15	78168982	.	C	T	1875.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.131;DP=477;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.37;SOR=0.705	GT:AD:DP:GQ:PL	0/1:56,42:98:99:929,0,1302	8	0	2	0
chr15	78776778	78776778	C	T	exonic	ADAMTS7	.	nonsynonymous SNV	ADAMTS7:NM_014272:exon10:c.G1531A:p.V511M	.	404	1103	15	0	0	15	0.00675371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0048	0.0011	0.0024	0	0	0.0050	0.0101	0.0062	0.0010479	162	154602	rs146326084	0.0031	0.0093	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0004	0.0014	0.0002	0	0.0002	0.0068	0.0036	0.0026	0.0026	0.0010	0.0055	0.0010	0.0010	0.0017	0.0009	0.0008	0.0013	0.0012	0.0002	0	0.0017	0.0003	0	0.0006	0.0035	0.0015	0.0010	0.0017	0.03	0.45393	D	0.035	0.52389	D	1.0	0.90584	D	0.996	0.84481	D	0.000002	0.62929	D	0.000000	0.999984	0.54805	D	.	.	.	0.16	0.60610	T	-2.24	0.50175	N	0.368	0.40963	-0.4123	0.71636	T	0.311	0.68112	T	10	0.024242163	0.00660	T	.	.	.	0.197	0.47942	.	.	0.77308684516	0.77100	0.5804270689733002	0.57971	0.749224044332	0.63684	0.658837497234	0.61242	T	0.022508	0.17341	T	0.0405265	0.57114	T	-0.179563	0.56563	T	0.544937610626221	0.34288	D	0.940706	0.77799	D	0.1005538	0.23745	0.15226209	0.35831	0.1005538	0.23744	0.15226209	0.35830	-8.343	0.63384	D	.	.	0.271	0.50509	B	.	.	4.508606	0.70581	25.5	0.99908254673372687	0.97801	0.96474	0.69319	D	AEFBI	0.650980	0.62489	D	0.534252785431371	0.69131	5.31345	0.480624850693116	0.66706	4.987275	0.999999161379799	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.09	4.09	0.47038	7.482000	0.80187	5.790000	0.49863	0.518000	0.23583	1.000000	0.71638	1.000000	0.68203	0.744000	0.35576	0.0:1.0:0.0:0.0	15.061	0.71618	496	0.76301	.	.	.	.	.	.	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	0.003712	0.000000	0.005731	0.000000	0.000000	0.000000	0.006494	0.003788	0.05	253.43	35	chr15	78776778	.	C	T	253.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.267;DP=558;ExcessHet=0;FS=4.36;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.12;MQRankSum=-12.7;QD=1.08;ReadPosRankSum=3.26;SOR=0.49	GT:AD:DP:GQ:PL	0/1:198,37:235:99:265,0,6469	9	0	1	0
chr15	78776843	78776843	T	C	splicing	ADAMTS7	NM_014272:exon10:c.1468-2A>G	.	.	.	390	1119	13	0	0	13	0.00577521	1.0000	0.936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.999e-05	0.0004	0	0	0	0	0	0	3.23e-05	5	154602	rs761832715	0.0006	0.0038	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0.0002	0.0006	0.0001	0.0006	0.0002	0.0018	0.0005	0.0007	0.0018	0.0006	0.0041	0.0006	0.0006	0.0009	0.0005	0.0005	0.0007	0.0006	0.0003	0	0.0009	0	0.0004	0	0	0.0009	0.0005	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12313	0.66684	D	-0.0609084	0.66268	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.618340	0.73312	26.0	0.99143664291259825	0.53600	0.96440	0.69150	D	AEFBI	.	.	.	0.821604702649219	0.87435	9.217823	0.583033767872228	0.73725	6.017524	0.999366450694202	0.39301	0.262962	0.04601	0	0.084543	0.02171	0	0.292756	0.05521	0	0.24341	0.04801	0	0.877846	0.54522	3.85	3.85	0.43556	7.587000	0.81895	5.989000	0.52298	0.574000	0.29054	1.000000	0.71638	1.000000	0.68203	0.230000	0.22734	0.0:0.0:0.0:1.0	11.631	0.50434	496	0.76301	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	401.43	35	chr15	78776843	.	T	C	401.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.406;DP=459;ExcessHet=0;FS=4.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=57.65;MQRankSum=-6.713;QD=3.49;ReadPosRankSum=-1.744;SOR=0.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,18:115:99:0|1:78776843_T_C:413,0,3775:78776843	9	0	1	0
chr15	82662825	82662825	A	G	exonic	AP3B2	.	nonsynonymous SNV	AP3B2:NM_001278511:exon21:c.T2549C:p.F850S,AP3B2:NM_004644:exon22:c.T2645C:p.F882S,AP3B2:NM_001278512:exon23:c.T2702C:p.F901S	Epileptic encephalopathy, early infantile, 48, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2106765	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.171	0.0256247794079	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1398775432	2.737e-06	2.736e-06	1.361e-06	4.127e-06	2.698e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.08710	T	0.409	0.14588	T	0.958	0.54977	D	0.477	0.46994	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.57	0.29342	T	-1.22	0.34198	N	0.755	0.75374	-1.0401	0.17283	T	0.129	0.43828	T	10	0.40342513	0.55726	T	0.025625	0.48589	D	0.171	0.43483	0.361	0.36548	0.396617757867	0.39272	0.5114965828692793	0.51071	0.125819403588	0.14181	0.696307182312	0.66611	T	0.137326	0.47020	T	0.0858778	0.62721	D	-0.114419	0.62256	T	0.922526895999908	0.58271	D	0.89841	0.64469	D	0.31957614	0.54604	0.2992947	0.55963	0.31957614	0.54604	0.2992947	0.55962	-6.451	0.50116	T	.	.	0.748	0.74977	P	.;.;.;.;.	.;.;.;.;.	3.936624	0.57579	23.9	0.99519686334512103	0.69161	0.46599	0.27796	N	AEFBCI	0.875857	0.79951	D	0.457206126146642	0.64613	4.719843	0.534988123950168	0.70362	5.493737	0.989546979791404	0.31860	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	7.077000	0.76497	11.041000	0.85176	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.903000	0.43903	1.0:0.0:0.0:0.0	16.588	0.84597	516	0.74704	AP-3 complex subunit beta, C-terminal domain|AP-3 complex subunit beta, C-terminal domain;AP-3 complex subunit beta, C-terminal domain|AP-3 complex subunit beta, C-terminal domain;AP-3 complex subunit beta, C-terminal domain|AP-3 complex subunit beta, C-terminal 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	.	.	.	.	.	.	.	.	0.05	1333.43	34	chr15	82662825	.	A	G	1333.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.977;DP=479;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.6;ReadPosRankSum=0.176;SOR=0.664	GT:AD:DP:GQ:PL	0/1:91,64:155:99:1345,0,2114	9	0	1	0
chr15	83011579	83011579	T	C	exonic	C15orf40	.	nonsynonymous SNV	C15orf40:NM_001160113:exon1:c.A29G:p.H10R,C15orf40:NM_001160114:exon1:c.A29G:p.H10R,C15orf40:NM_001160115:exon1:c.A29G:p.H10R,C15orf40:NM_001160116:exon1:c.A29G:p.H10R,C15orf40:NM_144597:exon1:c.A29G:p.H10R	.	430	1089	1	1	1	4	0.00137552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	.	.	0.0071885	0.0023	0	0	0.0005	0	2.055e-05	0.0016	0.0138	0.0002393	37	154602	rs553737044	0.0008	0.0008	0.0004	0.0011	0.0118	0.0007	0.0007	0.0112	0.0110	3.037e-05	0	0	2.547e-05	0	0.0005	1.263e-05	0.0010	0.0118	0.0005	0.0005	0.0002	0.0008	0.0153	0.0004	0.0004	0.0125	0.0115	4.81e-05	0	0	0	0.0008	0	0	1.47e-05	0	0.0153	0.08	0.48186	T	0.545	0.40586	T	.	.	.	.	.	.	.	.	.	.	1	0.19486	N	0.345	0.11182	N	.	.	.	-0.01	0.17834	N	0.113	0.12484	-1.0011	0.29602	T	0.030	0.13023	T	8	0.0035759509	0.00065	T	.	.	.	0.297	0.61730	0.158	0.06178	0.107399877778	0.10242	0.2217407424840517	0.22089	0.0155615849048	0.01485	.	.	.	0.01491	0.12608	T	-0.423909	0.01616	T	-0.371305	0.36735	T	0.0226863289813125	0.00986	T	0.394461	0.11926	T	0.038203724	0.05044	0.05787541	0.10597	0.038203724	0.05044	0.05787541	0.10596	-2.736	0.09569	T	.	.	0.061	0.08899	B	.;.;.;.;.	.;.;.;.;.	-1.889414	0.00130	0.002	0.50870333004880053	0.04461	0.00981	0.03737	N	ALL	0.038427	0.05438	N	-1.85853058044575	0.00417	0.01793663	-1.94578742868568	0.00396	0.0175213	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.61	-7.22	0.01335	-2.416000	0.01113	-9.092000	0.00868	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1275:0.5797:0.129:0.1637	5.916	0.18293	463	0.78548	.;.;.;.;.	.	.	.	.	.	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	0.002028	0.000000	0.001362	0.000000	0.000000	0.000000	0.000000	0.003788	0.05	443.43	41	chr15	83011579	.	T	C	443.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.445;DP=388;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=8.53;ReadPosRankSum=0.821;SOR=0.651	GT:AD:DP:GQ:PL	0/1:30,22:52:99:455,0,1163	9	0	1	0
chr15	84512517	84512517	-	AGCCTCTCCTCCTGTTCACAC	exonic	GOLGA6L4	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0074	0.0036	0.0036	0.0225	0.0035	0.0035	0.0211	0.0206	0.0003	0.0019	0.0031	0.0225	0.0093	0.0059	0.0031	0.0049	0.0007	0.0010	0.0031	0.0010	0.0010	0.0019	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0013	0.0004	0.0019	0.0015	0	0.0015	0.0006	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	669.54	36	chr15	84512517	.	T	TAGCCTCTCCTCCTGTTCACAC	669.54	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.649;DP=796;ExcessHet=0.2348;FS=4.053;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=46.45;MQRankSum=-2.969;QD=2.61;ReadPosRankSum=0.799;SOR=1.081	GT:AD:DP:GQ:PL	0/1:49,24:73:99:681,0,1939	9	0	1	0
chr16	282626	282626	G	A	exonic	ARHGDIG	.	nonsynonymous SNV	ARHGDIG:NM_001176:exon6:c.G490A:p.V164I	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.0159108368334	7.7e-05	0.000199681	0.0003	0	0.0032	0	0	3.111e-05	0	0.0003	0.0001423	22	154602	rs201741302	8.17e-05	8.824e-05	8.792e-05	7.538e-05	0.0014	6.951e-05	6.498e-05	0.0011	0.0010	9.013e-05	0.0014	0	2.546e-05	0.0002	0	2.537e-05	5.032e-05	0.0002	5.912e-05	5.905e-05	8.997e-05	2.687e-05	0.0004	3.077e-05	2.21e-05	0.0002	0.0001	0	0	0.0004	0	0.0002	9.418e-05	0	1.471e-05	0	0	0.187	0.25560	T	0.222	0.30143	T	0.007	0.14184	B	0.009	0.14300	B	0.402957	0.13100	N	0.662272	0.999986	0.18198	N	1.79	0.46772	L	.	.	.	-0.4	0.15379	N	0.093	0.07262	-1.0236	0.22541	T	0.080	0.31705	T	9	0.014816493	0.00311	T	0.015911	0.36899	T	0.016	0.02506	.	.	0.44770609447	0.44391	0.11389473140327144	0.11317	0.0553159975291	0.06117	0.396945089102	0.24644	T	0.158216	0.50115	T	-0.526804	0.00401	T	-0.548509	0.17470	T	0.0231598237729006	0.01043	T	0.634137	0.37862	T	0.030576706	0.02745	0.036496066	0.03107	0.030576706	0.02744	0.036496066	0.03107	-4.638	0.32646	T	.	.	0.091	0.13690	B	.;.;.	.;.;.	3.038669	0.40726	21.2	0.97017602159731142	0.32010	0.30643	0.24135	N	AEFDBI	0.281521	0.39508	N	-0.587917005625085	0.19310	1.009658	-0.567879680437363	0.20332	1.095005	0.0518641919751778	0.14887	0.646311	0.45356	0	0.626922	0.53725	0	0.645312	0.48771	0	0.699875	0.68795	0	.	.	3.94	1.88	0.24630	1.953000	0.39977	1.989000	0.30069	0.674000	0.70861	0.076000	0.22236	0.834000	0.27239	0.956000	0.50813	0.3678:0.0:0.6322:0.0	6.036	0.18932	743	0.52768	.;.;.	.	.	.	.	.	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	0.001014	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.007576	0.1	1982.14	40	chr16	282626	.	G	A	1982.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.045;DP=500;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.01;ReadPosRankSum=1.2;SOR=0.658	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1058,0,1111	8	0	2	0
chr16	1195509	1195509	G	C	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon4:c.G489C:p.Q163H,CACNA1H:NM_021098:exon4:c.G489C:p.Q163H	Hyperaldosteronism, familial, type IV, Autosomal dominant	0	1451	66	5	0	76	0.0255205	.	.	.	465730	not_provided|Epilepsy,_childhood_absence,_susceptibility_to,_6|Hyperaldosteronism,_familial,_type_IV|Idiopathic_generalized_epilepsy	MedGen:C3661900|MONDO:MONDO:0012763,MedGen:C2749872,OMIM:611942,Orphanet:64280|MONDO:MONDO:0014875,MedGen:C4310756,OMIM:617027,Orphanet:642671|MONDO:MONDO:0005579,MedGen:C0270850,OMIM:600669,OMIM:PS600669	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.589	.	0.0017	0.00499201	0.0091	0.0009	0.0046	0	0.0119	0.0073	0.0165	0.0222	0.0041591	643	154602	rs60593994	0.0041	0.0041	0.0036	0.0045	0.0208	0.0040	0.0039	0.0178	0.0167	0.0008	0.0024	0.0046	5.098e-05	0.0052	0.0208	0.0032	0.0048	0.0170	0.0036	0.0036	0.0032	0.0041	0.0162	0.0034	0.0033	0.0133	0.0122	0.0006	0.0022	0.0029	0.0049	0.0006	0.0076	0.0102	0.0043	0.0043	0.0162	0.061	0.37118	T	0.028	0.54934	D	0.051	0.73220	B	0.044	0.67021	B	0.187939	0.16925	N	0.589948	0.933575	0.26992	N	0.755	0.19153	N	-4.96	0.98448	D	-2.3	0.51157	N	0.487	0.53445	0.503	0.90584	D	0.856	0.95210	D	10	0.009828389	0.00221	T	.	.	.	0.589	0.83582	0.492	0.57890	0.907716034186	0.90679	0.6053794673270226	0.60468	.	.	0.537974953651	0.44159	T	0.579796	0.86222	D	-0.154178	0.27659	T	0.0193832	0.71591	D	0.0115321058971988	0.00174	T	0.868713	0.57175	D	0.3267669	0.55205	0.17381215	0.39733	0.27811882	0.50866	0.23346187	0.48535	-4.751	0.34015	T	0.2448169002887968	0.33160	0.276	0.54492	B	.;.;.;.	.;.;.;.	3.993221	0.58790	24.0	0.99663114981693679	0.78074	0.76265	0.37391	D	AEFDBHCI	0.382935	0.46463	N	-0.0927476318306143	0.37709	2.197865	-0.0337636271135359	0.38200	2.247254	0.945066235711583	0.27644	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.69	2.7	0.31007	1.632000	0.36715	1.521000	0.27092	0.600000	0.45842	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.096:0.0:0.904:0.0	10.865	0.46058	946	0.12043	Ion transport domain;Ion transport domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.021673	0.020202	0.012262	0.020468	0.000000	0.043103	0.021472	0.022901	0.05	2015.43	33	chr16	1195509	.	G	C	2015.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.159;DP=514;ExcessHet=0;FS=1.76;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.44;ReadPosRankSum=-1.667;SOR=0.603	GT:AD:DP:GQ:PL	0/1:98,95:193:99:2027,0,2126	9	0	1	0
chr16	1258332	1258332	G	A	exonic	TPSD1	.	nonsynonymous SNV	TPSD1:NM_012217:exon5:c.G685A:p.G229S	.	390	1107	23	2	0	27	0.0120482	0.9334	0.564	.	714734	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.703	.	0.0102	0.00479233	0.0075	0.0016	0.0039	0	0.0045	0.0110	0.0100	0.0043	0.0074126	1146	154602	rs142998820	0.0093	0.0093	0.0093	0.0093	0.0111	0.0091	0.0091	0.0097	0.0097	0.0017	0.0045	0.0359	0	0.0044	0.0111	0.0099	0.0098	0.0052	0.0078	0.0078	0.0081	0.0074	0.0112	0.0074	0.0073	0.0105	0.0102	0.0017	0.0417	0.0055	0.0369	0	0.0046	0.0102	0.0112	0.0085	0.0060	0.009	0.57480	D	0.017	0.60972	D	1.0	0.90584	D	1.0	0.97372	D	0.000228	0.47286	D	0.000000	1	0.81001	D	3.005	0.85968	M	-4.61	0.97866	D	-4.61	0.79060	D	0.429	0.46928	0.728	0.93516	D	0.919	0.97318	D	9	0.016424358	0.00346	T	.	.	.	0.703	0.89330	.	.	0.804267880867	0.80244	0.6752871873496633	0.67466	0.0621744941598	0.06921	0.610076010227	0.54326	T	0.578527	0.86161	D	-0.197127	0.21220	T	-0.0465408	0.67259	D	0.0270117525147711	0.01546	T	0.931607	0.74555	D	0.5408749	0.69445	0.44220585	0.67478	0.5408749	0.69446	0.44220585	0.67479	-7.504	0.57638	D	.	.	0.831	0.78781	P	.;.	.;.	3.110988	0.41967	21.5	0.99648163673959289	0.77130	0.85664	0.44821	D	AEFDGBI	0.573316	0.57655	D	0.496551587034075	0.66887	5.008855	0.276815368016481	0.54188	3.584628	0.559815261531564	0.21404	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.562822	0.20929	0	.	.	2.56	1.43	0.21585	2.491000	0.44961	5.272000	0.48155	0.579000	0.29447	0.994000	0.38300	1.000000	0.68203	0.020000	0.11549	0.0:0.2335:0.7665:0.0	8.842	0.34308	889	0.27310	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.010101	0.008152	0.014620	0.000000	0.000000	0.012195	0.003788	0.1	3955.14	35	chr16	1258332	.	G	A	3955.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.16;DP=590;ExcessHet=0.2348;FS=2.459;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.87;SOR=0.752	GT:AD:DP:GQ:PL	0/1:99,86:185:99:2358,0,2597	8	0	2	0
chr16	1602417	1602417	C	T	exonic	IFT140	.	nonsynonymous SNV	IFT140:NM_014714:exon4:c.G322A:p.V108M	Short-rib thoracic dysplasia 9 with or without polydactyly, Autosomal recessive	0	1492	29	1	0	31	0.0102819	.	.	.	465701	not_provided|Saldino-Mainzer_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0009964,MedGen:C1849437,OMIM:266920,Orphanet:140969|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	0.0072	0.00279553	0.0069	0.0015	0.0018	0.0001	0.0145	0.0093	0.01	0.0049	0.0069081	1068	154602	rs146128830	0.0095	0.0095	0.0096	0.0095	0.0107	0.0094	0.0093	0.0106	0.0105	0.0013	0.0017	0.0049	2.519e-05	0.0136	0.0040	0.0107	0.0082	0.0056	0.0069	0.0069	0.0066	0.0072	0.0111	0.0066	0.0064	0.0104	0.0102	0.0018	0.0033	0.0023	0.0049	0.0002	0.0123	0.0136	0.0111	0.0028	0.0056	0.022	0.53172	D	0.044	0.49663	D	0.985	0.61118	D	0.79	0.57710	P	0.062786	0.22072	N	0.456706	0.993577	0.23687	N	2.47	0.71715	M	0.2	0.60111	T	-0.71	0.24898	N	0.537	0.56489	-0.7691	0.56907	T	0.201	0.55737	T	10	0.015878737	0.00333	T	.	.	.	0.240	0.54500	.	.	0.585930602222	0.58267	0.22987807429048945	0.22902	0.335070030475	0.35518	0.282918542624	0.07903	T	0.020676	0.21710	T	-0.409037	0.02017	T	-0.348006	0.39433	T	0.0188908663489933	0.00599	T	0.862614	0.55818	D	0.030687803	0.02774	0.041938186	0.04881	0.026921747	0.01812	0.040142946	0.04269	-7.027	0.54231	T	0.34450922003466256	0.44207	0.119	0.35098	B	.;.;.	.;.;.	1.786767	0.22713	15.73	0.99512493023377735	0.68739	0.04505	0.10128	N	AEFDBI	0.049178	0.08470	N	-0.392399946430757	0.25738	1.399483	-0.661203259983345	0.17934	0.9558399	0.369238672997573	0.19853	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.83	-1.19	0.09091	0.022000	0.13402	-0.003000	0.13174	0.599000	0.40250	0.005000	0.17040	0.002000	0.18203	0.003000	0.05239	0.0:0.4051:0.0:0.5949	9.800	0.39929	568	0.70638	WD40-repeat-containing domain;Anaphase-promoting complex subunit 4, WD40 domain;Anaphase-promoting complex subunit 4, WD40 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	1	0	0.003525	0.000000	0.002725	0.000000	0.000000	0.025862	0.006098	0.000000	0.05	1710.43	34	chr16	1602417	.	C	T	1710.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.774;DP=469;ExcessHet=0;FS=2.898;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.11;ReadPosRankSum=-0.492;SOR=0.959	GT:AD:DP:GQ:PL	0/1:80,74:154:99:1722,0,1805	9	0	1	0
chr16	1817189	1817189	C	T	exonic	HAGH	.	stopgain	HAGH:NM_001286249:exon5:c.G515A:p.W172X	.	9	1488	24	1	0	26	0.00866089	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.00299521	0.0037	0.0009	0.0010	0	0.0003	0.0040	0.0022	0.0101	0.0035511	549	154602	rs61729103	0.0038	0.0039	0.0036	0.0041	0.0099	0.0038	0.0037	0.0094	0.0092	0.0004	0.0014	0.0007	2.52e-05	0.0009	0.0054	0.0040	0.0028	0.0099	0.0028	0.0029	0.0029	0.0028	0.0099	0.0026	0.0025	0.0077	0.0069	0.0007	0.0208	0.0024	0.0012	0.0002	0.0010	0.0034	0.0041	0.0033	0.0099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.798	0.79406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.517765	0.00453	T	-0.508548	0.21466	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	0.923064	0.12983	9.486	0.97700951927249491	0.35436	0.91634	0.53938	D	AEFDBI	0.114516	0.22552	N	-0.150670226938905	0.35206	2.019274	-0.199465689945463	0.31556	1.786998	6.62357201934162E-5	0.04366	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.15	0.68	0.17146	0.428000	0.21114	0.725000	0.21043	0.598000	0.34611	0.995000	0.38783	0.999000	0.35428	0.347000	0.25591	0.2694:0.4559:0.1311:0.1436	2.252	0.03798	608	0.67185	.	.	.	.	.	.	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	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.05	1472.43	33	chr16	1817189	.	C	T	1472.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.431;DP=446;ExcessHet=0;FS=1.544;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.29;SOR=0.91	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1484,0,1202	9	0	1	0
chr16	2087923	2087923	-	CCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	exonic	TSC2	.	frameshift insertion	TSC2:NM_001318831:exon35:c.4318_4319insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1446Gfs*27,TSC2:NM_001318827:exon36:c.4741_4742insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1587Gfs*27,TSC2:NM_001318829:exon36:c.4705_4706insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1575Gfs*27,TSC2:NM_001077183:exon37:c.4849_4850insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1623Gfs*27,TSC2:NM_001318832:exon37:c.4882_4883insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1634Gfs*27,TSC2:NM_001363528:exon37:c.4852_4853insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1624Gfs*27,TSC2:NM_001114382:exon38:c.4981_4982insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1667Gfs*27,TSC2:NM_001370404:exon38:c.4918_4919insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1646Gfs*27,TSC2:NM_001370405:exon38:c.4921_4922insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1647Gfs*27,TSC2:NM_021055:exon38:c.4921_4922insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1647Gfs*27,TSC2:NM_000548:exon39:c.5050_5051insCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG:p.D1690Gfs*27	Lymphangioleiomyomatosis, somatic;Tuberous sclerosis-2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	59024	Tuberous_sclerosis_2|Lymphangiomyomatosis|Isolated_focal_cortical_dysplasia_type_II|not_provided|Tuberous_sclerosis_syndrome	MONDO:MONDO:0013199,MedGen:C1860707,OMIM:613254,Orphanet:805|MONDO:MONDO:0011705,MedGen:C0751674,OMIM:606690,Orphanet:538|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MedGen:C3661900|MONDO:MONDO:0001734,MedGen:C0041341,OMIM:PS191100,Orphanet:805	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0019	0.0018	0.0022	0.0004	0	0.0023	0.0004	0.0003	0.0001	0.0004	0.0009	0.0010	0.0013	0.0010	0.0010	0.0026	0.0008	0.0008	0.0022	0.0020	0.0026	0	0.0008	0	0.0012	0	0	0.0003	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	695.39	36	chr16	2087923	.	T	TCCCTGCAGTGCAGGAAAGGTAGGGCCGGGTGGGG	695.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.305;DP=414;ExcessHet=0;FS=5.278;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.83;ReadPosRankSum=0.029;SOR=0.163	GT:AD:DP:GQ:PL	0/1:25,14:39:99:707,0,1047	9	0	1	0
chr16	2110993	2110993	C	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon15:c.G4174T:p.V1392L,PKD1:NM_001009944:exon15:c.G4174T:p.V1392L	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.583427951203	.	.	8.521e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs747142029	2.743e-06	2.736e-06	1.365e-06	4.135e-06	3.482e-05	6.4e-07	4.3e-07	9.25e-06	4.56e-06	0	0	0	0	0	0	8.995e-07	0	3.482e-05	1.314e-05	1.313e-05	2.568e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.034	0.44029	D	0.073	0.43159	T	0.151	0.28027	B	0.168	0.35187	B	0.000291	0.46274	D	0.139228	0.785652	0.34322	D	1.76	0.45711	L	0.17	0.60485	T	-1.27	0.33998	N	0.398	0.43899	-0.6877	0.61015	T	0.174	0.51801	T	10	0.36305633	0.52885	T	0.583428	0.96275	D	0.114	0.32008	0.598	0.72862	0.591557572705	0.58832	0.4169896915269001	0.41614	.	.	0.508233308792	0.39975	T	0.241587	0.61015	T	-0.24691	0.14480	T	-0.389791	0.34577	T	0.0978625518493648	0.12120	T	0.721228	0.33447	T	0.09359943	0.21986	0.120388225	0.29054	0.09359943	0.21986	0.120388225	0.29053	-3.911	0.22467	T	0.07986025611752251	0.03973	0.163	0.35890	B	.;.	.;.	1.753400	0.22303	15.57	0.91051901054218476	0.20303	0.80111	0.39837	D	AEFBI	0.212186	0.33790	N	-0.470701581882112	0.23043	1.234743	-0.372568078217979	0.25819	1.422184	0.00299971995473177	0.09855	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.58	3.51	0.39297	1.613000	0.36512	2.678000	0.33996	-0.206000	0.08541	0.993000	0.37899	0.993000	0.31925	0.032000	0.13371	0.0:0.7424:0.2576:0.0	15.762	0.77856	650	0.62973	PKD domain|PKD/Chitinase domain|Polycystin cation channel;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1965.43	34	chr16	2110993	.	C	A	1965.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.799;DP=594;ExcessHet=0;FS=0.603;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.52;MQRankSum=2.07;QD=12.76;ReadPosRankSum=0.293;SOR=0.784	GT:AD:DP:GQ:PL	0/1:75,79:154:99:1977,0,2062	9	0	1	0
chr16	2119356	2119356	G	A	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon2:c.C238T:p.R80W,PKD1:NM_001009944:exon2:c.C238T:p.R80W	Polycystic kidney disease, adult type I, Autosomal dominant	545	969	8	0	0	8	0.004111	.	.	YES	577534	not_provided|PKD1-related_disorder|Polycystic_kidney_disease	MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.120	.	.	0.00219649	0.0075	0	0	0	0	0	0	0.0121	0.0006921	107	154602	rs551353498	0.0005	0.0005	0.0003	0.0008	0.0078	0.0005	0.0005	0.0073	0.0071	9.95e-05	2.807e-05	4.037e-05	5.652e-05	0	0.0010	3.939e-05	0.0007	0.0078	0.0002	0.0002	0.0002	0.0003	0.0056	0.0002	0.0002	0.0039	0.0034	2.405e-05	0	0.0001	0	0	0	0	7.35e-05	0.0005	0.0056	0.015	0.52492	D	0.012	0.63918	D	0.9	0.73220	P	0.091	0.55321	B	0.199432	0.03309	N	1.587640	0.999614	0.20864	N	1.58	0.39772	L	0.26	0.59314	T	-1.81	0.42575	N	0.193	0.21188	-0.8608	0.51205	T	0.248	0.61774	T	10	0.0040474236	0.00079	T	.	.	.	0.120	0.33359	0.512	0.61000	0.644203187842	0.64126	0.46324754649053035	0.46243	.	.	0.451600849628	0.32163	T	0.214	0.57610	T	-0.43056	0.01471	T	-0.38357	0.35305	T	0.060400952942826	0.07232	T	0.823318	0.48387	T	0.088110246	0.20543	0.085825704	0.19842	0.09365176	0.22001	0.08501236	0.19598	-5.776	0.44365	T	0.1541497049771006	0.18388	0.087	0.11317	B	.;.	.;.	3.002038	0.40112	21.1	0.99866667057876324	0.94457	0.23783	0.22187	N	AEFBI	0.174533	0.30167	N	0.0103354221585962	0.42325	2.548011	-0.0823472277313929	0.36119	2.098032	0.938425350888014	0.27342	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.27	3.23	0.36150	1.406000	0.34254	5.270000	0.48149	0.660000	0.55035	0.052000	0.21487	0.994000	0.32194	0.120000	0.19168	0.1125:0.0:0.6076:0.2799	4.794	0.12630	645	0.63593	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.05	879.43	35	chr16	2119356	.	G	A	879.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.604;DP=375;ExcessHet=0;FS=11.716;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=37.89;MQRankSum=-0.941;QD=17.59;ReadPosRankSum=2.89;SOR=0.057	GT:AD:DP:GQ:PL	0/1:19,31:50:99:891,0,555	9	0	1	0
chr16	2180264	2180264	G	A	exonic	CASKIN1	.	nonsynonymous SNV	CASKIN1:NM_020764:exon18:c.C3104T:p.P1035L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.219163700293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.131e-06	2.736e-06	1.404e-06	2.873e-06	3.722e-05	5.7e-07	1.6e-07	9.89e-06	4.74e-06	0	0	0	0	0	0	0	0	3.722e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.238	0.24549	T	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.998209	0.44627	D	1.87	0.49600	L	-0.23	0.66652	T	-3.1	0.63554	D	0.391	0.43223	-0.1570	0.78745	T	0.406	0.75593	T	9	0.29634565	0.47199	T	0.219164	0.87694	D	0.183	0.45592	0.183	0.09131	0.658331301186	0.65547	0.1446118638067827	0.14384	0.978654125277	0.73649	0.793171048164	0.80925	T	0.023074	0.17679	T	-0.0174708	0.49214	T	-0.262872	0.48536	T	0.873186469078064	0.52305	D	0.848415	0.52967	T	0.12837775	0.30016	0.26032358	0.51794	0.12837775	0.30015	0.26032358	0.51793	-5.944	0.45808	T	.	.	0.101	0.17700	B	.	.	4.052070	0.60070	24.2	0.99799497354205657	0.88461	0.92383	0.55584	D	AEFDBI	0.498427	0.53253	N	0.405371617585951	0.61718	4.37663	0.323754173379085	0.56940	3.85816	0.635250291660763	0.22004	0.646311	0.45356	0	0.550933	0.16991	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.33	3.33	0.37245	3.393000	0.52286	5.723000	0.49481	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.846000	0.39970	0.0:0.0:1.0:0.0	13.725	0.62236	650	0.62973	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	373.43	34	chr16	2180264	.	G	A	373.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.212;DP=322;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.979;SOR=0.527	GT:AD:DP:GQ:PL	0/1:9,18:27:99:385,0,159	9	0	1	0
chr16	3590663	3590663	C	T	exonic	SLX4	.	nonsynonymous SNV	SLX4:NM_032444:exon12:c.G2975A:p.G992E	Fanconi anemia, complementation group P, Autosomal recessive	0	1511	11	0	0	11	0.00362677	.	.	.	342910	not_specified|SLX4-related_disorder|not_provided|Fanconi_anemia_complementation_group_P|Fanconi_anemia	MedGen:CN169374|.|MedGen:C3661900|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951,Orphanet:84|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.096	0.0624067171184	0.0003	0.000599042	0.0004	9.632e-05	0.0012	0	0	0.0005	0.0011	0.0001	0.0004204	65	154602	rs139287784	0.0005	0.0005	0.0005	0.0005	0.0175	0.0005	0.0005	0.0147	0.0137	0.0005	0.0016	0.0020	0	0	0.0175	0.0003	0.0013	0.0003	0.0005	0.0005	0.0005	0.0006	0.0018	0.0004	0.0004	0.0013	0.0011	0.0003	0	0.0018	0.0017	0	0	0.0068	0.0005	0.0005	0.0004	0.088	0.32296	T	0.128	0.34959	T	0.807	0.45251	P	0.217	0.37636	B	0.972596	0.08148	N	0.987593	1	0.08975	N	1.7	0.43825	L	5.11	0.01224	T	-1.93	0.44852	N	0.252	0.28498	-0.9949	0.31326	T	0.004	0.01192	T	10	0.006367922	0.00144	T	0.062407	0.68641	D	0.096	0.27654	.	.	0.18274738541	0.17906	0.1935292360301049	0.19270	0.265596492825	0.29113	0.226690292358	0.01732	T	0.198784	0.55588	T	-0.556491	0.00266	T	-0.602217	0.12625	T	0.0193810868039196	0.00643	T	0.49475	0.15329	T	0.04343045	0.06768	0.07398713	0.16137	0.04343045	0.06768	0.07398713	0.16137	-2.17	0.03897	T	.	.	0.119	0.24566	B	.	.	0.761621	0.11314	7.936	0.95727036889515915	0.27661	0.11039	0.16366	N	AEFGBI	0.054914	0.10025	N	-0.795783152816648	0.13420	0.6609437	-0.878885676969574	0.12595	0.6487897	0.947916034075457	0.27775	0.706548	0.73137	0	0.724815	0.89359	0	0.596874	0.31795	0	0.699875	0.68795	0	.	.	5.43	1.08	0.19456	0.448000	0.21443	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.4882:0.4351:0.0767	9.509	0.38230	587	0.69154	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011078	0.015152	0.017663	0.020468	0.000000	0.008621	0.000000	0.000000	0.05	1074.43	39	chr16	3590663	.	C	T	1074.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.071;DP=470;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=1.22;SOR=0.818	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1086,0,1302	9	0	1	0
chr16	4860765	4860765	C	G	exonic	UBN1	.	nonsynonymous SNV	UBN1:NM_001079514:exon7:c.C773G:p.A258G,UBN1:NM_001288656:exon7:c.C773G:p.A258G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0299737417268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.019	0.59159	D	0.376	0.37313	B	0.073	0.34351	B	0.000068	0.52346	D	0.170871	0.884881	0.35827	D	2.495	0.72670	M	1.27	0.51952	T	-1.55	0.37566	N	0.153	0.24510	-0.7390	0.58504	T	0.158	0.49128	T	10	0.10841563	0.20180	T	0.029974	0.52383	D	0.193	0.47281	0.199	0.11247	0.23798241625	0.23396	0.11904256442220747	0.11831	0.155848599088	0.17590	0.443365812302	0.31037	T	0.433705	0.78104	T	-0.0666607	0.41858	T	-0.33353	0.41074	T	0.917334735393524	0.57513	D	0.89601	0.63722	D	0.22959465	0.45699	0.2834786	0.54341	0.22959465	0.45699	0.2834786	0.54340	-7.568	0.58304	D	0.5918208919829209	0.65862	0.136	0.29724	B	.;.;.	.;.;.	3.801675	0.54779	23.5	0.99668383213953415	0.78394	0.90791	0.52267	D	AEFBI	0.311412	0.41715	N	0.279789685978416	0.55126	3.676831	0.402235410846242	0.61703	4.374317	0.999999324261579	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	2.959000	0.48846	7.728000	0.67649	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.347	0.98800	496	0.76301	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1405.43	35	chr16	4860765	.	C	G	1405.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.47;DP=397;ExcessHet=0;FS=2.077;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.35;ReadPosRankSum=0.683;SOR=0.994	GT:AD:DP:GQ:PL	0/1:33,48:81:99:1417,0,863	9	0	1	0
chr16	11475684	11475684	C	T	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon20:c.G2764A:p.V922M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs947695322	2.027e-05	1.59e-05	8.221e-06	3.198e-05	1.898e-05	7.93e-06	4.31e-06	5.05e-06	2.4e-06	0	0	0	0	0	0	1.898e-05	0.0001	0	1.971e-05	1.97e-05	1.285e-05	2.69e-05	7.237e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.237e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999998	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08383924	0.13988	T	.	.	.	.	.	.	.	0.119812018005	0.11559	.	.	.	.	.	.	.	.	.	.	-0.251096	0.13964	T	-0.598458	0.12941	T	.	.	.	0.346065	0.07604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.12702	B	.	.	-0.682054	0.01363	0.077	0.8278916228045482	0.14376	0.00527	0.02446	N	AEFBI	0.035354	0.04537	N	.	.	.	.	.	.	0.959716858075821	0.28443	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.0	-6.35	0.01802	-0.754000	0.04892	-5.452000	0.01713	-2.308000	0.00320	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.332:0.1323:0.5357	6.463	0.21170	958	0.09170	.	.	.	.	.	.	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	1932.14	43	chr16	11475684	.	C	T	1932.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.419;DP=457;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=1.58;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,39:69:99:1|0:11475662_G_C:958,0,1112:11475662	8	0	2	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	33293.6	178	chr16	11927475	.	G	*	33293.6	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.1;DP=1578;ExcessHet=0.2065;FS=0.681;InbreedingCoeff=0.2;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=22.33;ReadPosRankSum=1.16;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,32:104:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:3348,2199,2888:11927441	8	0	2	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	1673.04	150	chr16	14582206	.	G	C	1673.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=-1.707;DP=1877;ExcessHet=22.563;FS=418.632;InbreedingCoeff=-0.9999;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=2.08;SOR=13.119	GT:AD:DP:GQ:PL	0/1:94,65:188:99:353,0,1218	0	0	10	0
chr16	18811992	18811992	G	C	exonic	SMG1	.	nonsynonymous SNV	SMG1:NM_015092:exon61:c.C10757G:p.A3586G	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00354229451885	8.4e-05	.	6.627e-05	0	0	0	0.0002	0.0001	0	0	5.17e-05	8	154602	rs201156254	6.157e-05	6.156e-05	6.262e-05	6.051e-05	0.0005	5.095e-05	4.716e-05	0.0001	7.544e-05	0.0001	4.473e-05	0	0	1.873e-05	0.0005	6.835e-05	4.969e-05	0	0.0001	0.0001	0.0001	0.0002	0.0007	9.15e-05	7.705e-05	0.0004	0.0003	2.414e-05	0	0.0007	0	0	0	0	0.0001	0	0	0.214	0.19361	T	.	.	.	0.034	0.20480	B	0.016	0.17743	B	0.000002	0.62929	D	0.000000	0.547676	0.31360	N	1.5	0.37844	L	5.21	0.01198	T	-1.02	0.26843	N	0.201	0.22228	-0.9759	0.35926	T	0.004	0.01365	T	10	0.0981774	0.17733	T	0.003542	0.08062	T	0.187	0.46274	.	.	0.143184338766	0.13958	0.20291633052719127	0.20208	0.308008756825	0.33102	0.422061920166	0.28120	T	0.029011	0.20885	T	-0.322784	0.06672	T	-0.521138	0.20180	T	0.0719474593290704	0.08921	T	0.891311	0.62583	D	0.06711742	0.14505	0.11433975	0.27600	0.06711742	0.14505	0.11433975	0.27599	-4.065	0.24772	T	.	.	0.079	0.07412	B	.;.	.;.	2.659829	0.34646	19.69	0.97023356935943084	0.32034	0.96221	0.68092	D	AEFBI	0.394924	0.47199	N	0.0368107363664567	0.43537	2.644671	0.250948268204857	0.52705	3.443413	0.999980687239351	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	3.419000	0.52486	7.607000	0.61769	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1394:0.0:0.8606:0.0	10.874	0.46108	237	0.90758	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1364.43	33	chr16	18811992	.	G	C	1364.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.257;DP=621;ExcessHet=0;FS=5.776;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-3.055;SOR=0.552	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1376,0,1361	9	0	1	0
chr16	20373106	20373106	C	A	exonic	PDILT	.	nonsynonymous SNV	PDILT:NM_174924:exon6:c.G698T:p.R233L	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0142129705642	0.0022	0.00179712	0.0016	0.0007	0.0016	0	0	0.0022	0	0.0011	0.0016429	254	154602	rs141043720	0.0026	0.0026	0.0027	0.0025	0.0029	0.0025	0.0025	0.0028	0.0028	0.0006	0.0027	0.0041	0	0.0002	0.0021	0.0029	0.0036	0.0008	0.0022	0.0022	0.0021	0.0022	0.0045	0.0020	0.0019	0.0037	0.0033	0.0010	0	0.0045	0.0055	0	9.43e-05	0	0.0027	0.0043	0.0017	0.417	0.09927	T	0.658	0.06554	T	0.006	0.13644	B	0.008	0.13708	B	0.054324	0.22734	N	0.498124	0.73755	0.29767	N	1.98	0.53716	M	1.47	0.31987	T	-1.66	0.39692	N	0.424	0.46368	-1.0841	0.06572	T	0.040	0.17319	T	10	0.010000765	0.00224	T	0.014213	0.34172	T	0.047	0.12962	.	.	0.381239546501	0.37731	0.7327345035719722	0.73218	0.106597910397	0.12050	0.372932136059	0.21252	T	0.00379	0.03201	T	-0.499173	0.00578	T	-0.495042	0.22864	T	0.0161349629279246	0.00390	T	0.79822	0.44280	T	0.15680262	0.35366	0.10329144	0.24779	0.15680262	0.35366	0.10329144	0.24778	-2.004	0.03196	T	.	.	0.243	0.47784	B	.	.	2.881232	0.38127	20.7	0.72555988300699381	0.10014	0.56367	0.30099	D	AEFHI	0.115195	0.22659	N	-0.259018074927117	0.30745	1.717192	-0.140302812595262	0.33784	1.936184	0.00450493708491616	0.10591	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	3.8	0.42887	1.260000	0.32571	3.067000	0.36184	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.946000	0.48989	0.2293:0.7707:0.0:0.0	9.349	0.37291	802	0.44336	.	.	.	.	.	.	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	0.010101	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1577.43	36	chr16	20373106	.	C	A	1577.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.95;DP=445;ExcessHet=0;FS=4.436;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.85;SOR=1.11	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1589,0,1263	9	0	1	0
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	306.67	2	chr16	21404235	.	GC	G	306.67	.	AC=6;AF=1;AN=6;DP=22;ExcessHet=0;FS=0;MLEAC=9;MLEAF=1;MQ=28.94;QD=30.22;SOR=4.407	GT:AD:DP:GQ:PL	1/1:0,4:4:12:150,12,0	0	3	0	7
chr16	28496534	28496534	G	A	exonic	APOBR	.	nonsynonymous SNV	APOBR:NM_018690:exon2:c.G1493A:p.R498K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.0201968943036	0.0005	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0014	0.0002975	46	154602	rs200832612	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0002	0.0006	0.0006	3.093e-05	0.0001	0	0	0	0.0002	0.0002	0.0002	0.0008	0.0003	0.0003	0.0003	0.0004	0.0004	0.0003	0.0002	0.0002	0.0001	2.406e-05	0.0274	0.0004	0	0	0	0	0.0002	0.0009	0.0002	0.676	0.04482	T	0.995	0.06166	T	0.006	0.13644	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	-1.2	0.00838	N	-0.61	0.71779	T	0.63	0.02404	N	0.02	0.00308	-0.9859	0.33615	T	0.094	0.35631	T	9	0.0024457276	0.00037	T	0.020197	0.42744	T	0.038	0.09825	.	.	0.339074221408	0.33521	0.022243401767203803	0.02176	0.0689220398116	0.07714	0.258435308933	0.04706	T	4.26E-4	0.00140	T	-0.564716	0.00238	T	-0.675502	0.07260	T	0.0142870743581392	0.00284	T	0.29617	0.06085	T	0.037005328	0.04663	0.050115924	0.07800	0.037005328	0.04663	0.050115924	0.07799	.	.	.	.	.	0.086	0.10835	B	.;.	.;.	-0.520503	0.01803	0.140	0.69883350896088581	0.09115	0.00070	0.00494	N	AEFDBI	0.053862	0.09742	N	-1.65301309921588	0.01022	0.04432962	-1.66222251794803	0.01314	0.05928336	0.999993619187321	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	4.54	-3.87	0.03939	-2.331000	0.01190	-0.048000	0.12582	-0.118000	0.14412	0.000000	0.06391	0.000000	0.08366	0.142000	0.20019	0.2899:0.1371:0.4389:0.1341	3.254	0.06423	683	0.59664	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1469.14	56	chr16	28496534	.	G	A	1469.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.771;DP=426;ExcessHet=0.2348;FS=17.42;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=-0.472;SOR=0.689	GT:AD:DP:GQ:PL	0/1:23,31:54:99:825,0,597	8	0	2	0
chr16	30121836	30121836	G	C	exonic	MAPK3	.	nonsynonymous SNV	MAPK3:NM_001040056:exon2:c.C341G:p.A114G,MAPK3:NM_001109891:exon2:c.C341G:p.A114G,MAPK3:NM_002746:exon2:c.C341G:p.A114G	.	426	1090	6	0	0	6	0.00274474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.00831672813316	7.7e-05	.	0.0001	0	0	0	0	0.0002	0	0.0002	0.00011	17	154602	rs61736373	0.0002	0.0002	0.0002	0.0002	0.0043	0.0001	0.0001	0.0030	0.0026	0	0.0001	0	0	1.878e-05	0.0043	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0006	0.0001	0.0001	0.0002	9.897e-05	4.809e-05	0	0.0003	0	0	0	0.0068	0.0002	0.0005	0.0006	0.288	0.15149	T	0.367	0.18018	T	0.0	0.14184	B	0.002	0.19048	B	0.001497	0.38855	N	0.290510	0.965175	0.81001	D	0.56	0.15190	N	0.99	0.41750	T	-1.08	0.31576	N	0.217	0.28616	-1.0581	0.12235	T	0.062	0.25994	T	10	0.11001718	0.20547	T	0.008317	0.22029	T	0.020	0.03691	.	.	0.780492144191	0.77847	0.11723864153372086	0.11651	0.658889439953	0.58774	0.514886856079	0.40907	T	0.166817	0.51321	T	-0.446337	0.01187	T	-0.562753	0.16119	T	0.0287946737972913	0.01806	T	0.89621	0.63872	D	0.2789433	0.50946	0.19636172	0.43362	0.2789433	0.50946	0.19636172	0.43361	-5.93	0.50101	T	.	.	0.081	0.11749	B	.;.;.;.;.	.;.;.;.;.	4.313605	0.65958	24.9	0.97427858710050308	0.33911	0.86912	0.46301	D	AEFDGBHCI	0.498334	0.53248	N	-0.0412861623660659	0.39992	2.367522	0.0857258348816602	0.43830	2.676668	0.99999960249252	0.74766	0.626454	0.40138	0	0.80507	0.99744	0	0.643519	0.47002	0	0.56214	0.19341	0	.	.	5.48	4.5	0.54382	3.232000	0.51003	6.548000	0.55903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.1438:0.5765:0.2797	8.710	0.33537	150	0.94078	Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Mitogen-activated protein (MAP) kinase, conserved site|Protein kinase domain|Protein kinase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	2116.14	34	chr16	30121836	.	G	C	2116.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.58;DP=488;ExcessHet=0.2348;FS=4.765;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.13;ReadPosRankSum=-1.266;SOR=0.999	GT:AD:DP:GQ:PL	0/1:56,55:111:99:1176,0,1233	8	0	2	0
chr16	30725022	30725024	GTT	-	exonic	SRCAP	.	nonframeshift deletion	SRCAP:NM_006662:exon25:c.5598_5600del:p.F1867del	Floating-Harbor syndrome, Autosomal dominant	11	1506	5	0	0	5	0.00165728	.	.	.	341193	SRCAP-related_disorder|not_provided|Floating-Harbor_syndrome	.|MedGen:C3661900|MONDO:MONDO:0007621,MedGen:C0729582,OMIM:136140,Orphanet:2044	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0011	9.752e-05	0.0006	0.0001	0	0.0004	0.0033	0.0057	0.0008667	134	154602	rs565950672	0.0007	0.0007	0.0005	0.0008	0.0060	0.0006	0.0006	0.0055	0.0054	0.0004	0.0010	0.0002	2.519e-05	3.746e-05	0.0049	0.0003	0.0009	0.0060	0.0006	0.0006	0.0004	0.0008	0.0046	0.0005	0.0004	0.0031	0.0026	9.622e-05	0	0.0017	0	0	9.429e-05	0.0034	0.0004	0.0019	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006546	0.010101	0.008152	0.005848	0.000000	0.000000	0.003049	0.011364	0.05	2955.39	41	chr16	30725021	.	CGTT	C	2955.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.762;DP=518;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=22.56;ReadPosRankSum=2.13;SOR=0.602	GT:AD:DP:GQ:PL	0/1:56,75:131:99:2967,0,2105	9	0	1	0
chr16	30757015	30757015	G	A	exonic	PHKG2	.	nonsynonymous SNV	PHKG2:NM_000294:exon10:c.G1139A:p.G380E	Cirrhosis due to liver phosphorylase kinase deficiency (3);Glycogen storage disease IXc, Autosomal recessive	2	1519	1	0	0	1	0.000329056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0135069990838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.24372	T	0.238	0.39040	T	0.03	0.20002	B	0.011	0.15521	B	0.104343	0.19707	N	0.428502	1	0.81001	D	1.245	0.31408	L	-0.51	0.70597	T	0.29	0.04161	N	0.244	0.38335	-1.0184	0.24236	T	0.100	0.37290	T	9	0.18824118	0.34371	T	0.013507	0.32968	T	0.063	0.18251	0.292	0.25400	0.829901776571	0.82828	0.20828773629063912	0.20744	0.476650202414	0.46791	.	.	.	0.208669	0.56867	T	-0.0363655	0.46486	T	-0.290013	0.45772	T	0.382868483047775	0.28293	T	0.757524	0.38090	T	0.060579617	0.12446	0.08576688	0.19823	0.060579617	0.12445	0.08576688	0.19823	-2.92	0.09345	T	.	.	0.119	0.30184	B	.;.	.;.	2.849106	0.37614	20.5	0.98987916649640417	0.49882	0.93451	0.58252	D	AEFBCI	0.727985	0.67615	D	-0.0951472951920175	0.37606	2.190223	0.0648046961760952	0.42793	2.59467	0.999879591382078	0.44625	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	5.85	3.83	0.43287	4.660000	0.61206	6.546000	0.55897	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0738:0.2807:0.6455:0.0	9.206	0.36451	10	0.99061	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2717.14	35	chr16	30757015	.	G	A	2717.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.08;DP=491;ExcessHet=0.2348;FS=0.529;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.59;ReadPosRankSum=-0.307;SOR=0.648	GT:AD:DP:GQ:PL	0/1:39,50:89:99:1329,0,934	8	0	2	0
chr16	30902438	30902438	C	T	exonic	CTF1	.	nonsynonymous SNV	CTF1:NM_001142544:exon3:c.C502T:p.P168S,CTF1:NM_001330:exon3:c.C505T:p.P169S	.	.	.	.	.	.	.	.	.	.	.	1409611	not_provided|Dilated_Cardiomyopathy,_Dominant	MedGen:C3661900|MedGen:CN239310	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.162	0.117157627093	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs746337311	1.107e-05	1.3e-05	1.245e-05	9.639e-06	0.0008	6.42e-06	5.02e-06	0.0002	0.0001	0	0	0	0	0	0.0008	7.882e-06	5.871e-05	0	6.593e-06	6.568e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.429	0.09572	T	0.585	0.08361	T	0.0	0.02946	B	0.001	0.04355	B	0.739314	0.06418	N	1.125240	0.999936	0.19363	N	0.29	0.10111	N	-0.96	0.75553	T	-0.35	0.12847	N	0.022	0.00372	-0.9590	0.39368	T	0.168	0.50778	T	10	0.079146504	0.12699	T	0.117158	0.79685	D	0.162	0.41843	0.384	0.40298	0.607385014995	0.60423	0.16810486301222155	0.16730	1.09102985034	0.77430	0.849205195904	0.89494	D	0.219632	0.58270	T	-0.211179	0.19213	T	-0.54112	0.18187	T	0.0443538963151602	0.04484	T	0.471653	0.14010	T	0.026262037	0.01662	0.043712713	0.05501	0.026262037	0.01662	0.043712713	0.05501	-3.192	0.12726	T	0.0947803081620262	0.06381	0.078	0.06710	B	.;.	.;.	0.614908	0.09835	6.597	0.91038486452410539	0.20290	0.02437	0.06869	N	AEFDGBHCI	0.025939	0.01862	N	-1.1482025208841	0.05809	0.2658026	-1.16759163493227	0.06458	0.3109111	0.999999983788933	0.74766	0.407012	0.06308	2	0.166054	0.03914	2	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.06	-1.31	0.08749	-0.177000	0.09789	0.159000	0.15383	0.439000	0.21057	0.000000	0.06391	0.008000	0.19753	0.004000	0.06068	0.0:0.2799:0.3372:0.3829	4.144	0.09672	63	0.97314	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	224.43	24	chr16	30902438	.	C	T	224.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.487;DP=230;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.69;ReadPosRankSum=0.176;SOR=0.569	GT:AD:DP:GQ:PL	0/1:11,10:21:99:236,0,256	9	0	1	0
chr16	49638729	49638729	C	A	exonic	ZNF423	.	nonsynonymous SNV	ZNF423:NM_001330533:exon2:c.G72T:p.Q24H,ZNF423:NM_001271620:exon4:c.G243T:p.Q81H,ZNF423:NM_001379286:exon4:c.G447T:p.Q149H,ZNF423:NM_015069:exon4:c.G423T:p.Q141H	Joubert syndrome 19, Autosomal recessive, Autosomal dominant;Nephronophthisis 14, Autosomal recessive, Autosomal dominant	9	1512	1	0	0	1	0.000330579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.0432499108602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.006	0.72224	D	0.999	0.77913	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.989014	0.42131	D	0.365	0.12025	N	0.82	0.48142	T	-2.96	0.61722	D	0.663	0.74098	-0.7956	0.55403	T	0.204	0.56155	T	9	0.7212434	0.73676	D	0.04325	0.60884	D	0.277	0.59375	0.734	0.86719	0.0934897674506	0.08844	0.5257155753126445	0.52495	1.14442420052	0.79035	0.869426608086	0.92486	D	0.50282	0.82256	D	-0.0292611	0.47522	T	-0.279808	0.46822	T	0.979672133922577	0.72954	D	0.911809	0.68723	D	0.68667483	0.77330	0.6053939	0.77062	0.68667483	0.77332	0.6053939	0.77062	-7.208	0.57300	T	0.5783054589254107	0.64521	0.843	0.83869	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.539978	0.71347	25.7	0.99686929684933578	0.79641	0.91517	0.53696	D	AEFDBHCIJ	0.680323	0.64405	D	0.492124618165614	0.66630	4.974894	0.494738635228646	0.67642	5.111285	0.999999999989387	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.698795	0.65105	0	0.699875	0.68795	0	.	.	4.5	4.5	0.54382	4.010000	0.56829	3.390000	0.38061	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.570	0.87829	862	0.33134	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2539.43	42	chr16	49638729	.	C	A	2539.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.63;DP=640;ExcessHet=0;FS=2.269;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=-0.883;SOR=0.54	GT:AD:DP:GQ:PL	0/1:125,102:227:99:2551,0,3172	9	0	1	0
chr16	57698153	57698153	G	A	splicing	DRC7	NM_001289163:exon2:c.203+1G>A;NM_032269:exon2:c.203+1G>A;NM_001289162:exon3:c.203+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.653e-05	0	8.652e-05	0	0	1.504e-05	0	0	1.29e-05	2	154602	rs528191373	6.842e-06	6.84e-06	5.446e-06	8.252e-06	6.709e-05	3.46e-06	2.52e-06	1.779e-05	8.93e-06	0	6.709e-05	0	5.038e-05	0	0	3.597e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0168999	0.53963	T	-0.0165294	0.69257	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.908135	0.80724	27.4	0.98836729291971293	0.47052	0.88170	0.47980	D	AEFBI	.	.	.	0.872273869049551	0.90339	10.35862	0.639364321196652	0.77821	6.753767	0.999881180697062	0.44867	0.074636	0.01641	0	0.084543	0.02171	0	0.060301	0.00762	0	0.062806	0.01542	0	0.945785	0.60994	4.18	4.18	0.48473	4.452000	0.59794	11.456000	0.92812	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.053000	0.15439	0.0:0.0:1.0:0.0	12.325	0.54328	895	0.25842	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1459.43	34	chr16	57698153	.	G	A	1459.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.024;DP=444;ExcessHet=0;FS=4.187;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=0.868;SOR=0.431	GT:AD:DP:GQ:PL	0/1:59,70:129:99:1471,0,1299	9	0	1	0
chr16	67654664	67654664	A	C	exonic	CARMIL2	.	nonsynonymous SNV	CARMIL2:NM_001013838:exon31:c.A3554C:p.E1185A,CARMIL2:NM_001317026:exon32:c.A3446C:p.E1149A	.	418	1089	14	1	0	16	0.00729262	.	.	.	1157793	CARMIL2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.053	0.00791271399015	0.0010	0.000998403	0.0010	0.0001	0.0006	0	0	0.0010	0	0.0037	0.001009	156	154602	rs200875393	0.0016	0.0016	0.0015	0.0016	0.0037	0.0015	0.0015	0.0034	0.0032	0.0002	0.0007	0.0027	0	1.943e-05	0.0025	0.0016	0.0019	0.0037	0.0009	0.0009	0.0010	0.0009	0.0035	0.0008	0.0008	0.0022	0.0018	0.0002	0	0.0010	0.0049	0.0002	0	0	0.0012	0.0009	0.0035	0.005	0.65419	D	0.163	0.38450	T	0.877	0.48223	P	0.411	0.44827	B	0.025933	0.26005	N	0.329212	0.975682	0.39210	D	.	.	.	2.32	0.16953	T	-2.76	0.59226	D	0.289	0.43803	-1.1226	0.02173	T	0.038	0.16203	T	10	0.0069001615	0.00157	T	0.007913	0.20981	T	0.053	0.14996	.	.	0.520640030592	0.51707	0.5879898043667565	0.58728	0.741734264216	0.63298	0.584869146347	0.50771	T	0.029908	0.21325	T	-0.454216	0.01066	T	-0.427016	0.30274	T	0.0269230141908315	0.01533	T	0.812719	0.46458	T	0.17332664	0.38074	0.16284099	0.37806	0.17332664	0.38074	0.16284099	0.37805	-3.391	0.14936	T	0.4057487227912781	0.49686	0.125	0.26514	B	.;.	.;.	3.260419	0.44588	22.0	0.98125260785448076	0.38473	0.80328	0.39995	D	AEFDGBCI	0.352212	0.44505	N	0.253232272755021	0.53800	3.547352	0.34299156883572	0.58085	3.97726	0.999999999999981	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.493711	0.08198	1	0.63947	0.58350	0	.	.	5.99	5.99	0.97299	2.651000	0.46338	9.247000	0.79462	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.820000	0.38637	1.0:0.0:0.0:0.0	14.736	0.69031	44	0.97806	.;.	.	.	.	.	.	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	0.002518	0.000000	0.001359	0.008772	0.000000	0.000000	0.003049	0.000000	0.05	1291.43	37	chr16	67654664	.	A	C	1291.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.866;DP=462;ExcessHet=0;FS=5.872;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=0.077;SOR=0.347	GT:AD:DP:GQ:PL	0/1:55,59:114:99:1303,0,1533	9	0	1	0
chr16	70132237	70132237	A	G	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon7:c.A634G:p.I212V,PDPR:NM_001322117:exon9:c.A934G:p.I312V,PDPR:NM_017990:exon9:c.A934G:p.I312V	.	418	1085	19	0	0	19	0.00867976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	.	.	.	0.0024	0.0161	0.0012	0	0	0.0004	0.0056	0.0052	0.0019728	305	154602	rs200212343	0.0003	0.0007	0.0002	0.0004	0.0028	0.0003	0.0003	0.0025	0.0024	0.0009	0.0003	0.0005	5.038e-05	0	0.0023	9.715e-05	0.0006	0.0028	0.0002	0.0003	0.0002	0.0003	0.0027	0.0002	0.0001	0.0016	0.0013	4.81e-05	0	0.0001	0.0009	0	0	0	0.0002	0.0014	0.0027	1.0	0.00964	T	1.0	0.01155	T	0.025	0.19245	B	0.019	0.18783	B	0.000000	0.84330	D	0.050662	0.999626	0.47904	D	1.11	0.28643	L	1.69	0.27032	T	0.44	0.03243	N	0.519	0.54932	-1.0736	0.08639	T	0.031	0.13155	T	10	0.010658145	0.00236	T	.	.	.	0.056	0.15993	.	.	0.366466682447	0.36252	0.46028569994023094	0.45946	0.384480209222	0.39746	0.501907587051	0.39094	T	0.018119	0.34819	T	-0.173895	0.24648	T	-0.487565	0.23645	T	0.0139654405173654	0.00268	T	0.922108	0.71672	D	0.03260917	0.03319	0.04228881	0.05003	0.03260917	0.03319	0.04228881	0.05003	-5.65	0.43246	T	.	.	0.077	0.08033	B	.;.;.	.;.;.	1.922213	0.24416	16.39	0.49956463330930956	0.04300	0.68614	0.33869	D	AEFDBHCI	0.430191	0.49300	N	-0.587404041057041	0.19327	1.010584	-0.367217833693819	0.25982	1.432211	0.00141110113601005	0.08519	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.16	4.05	0.46415	4.032000	0.56985	5.196000	0.47916	0.645000	0.52629	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.6837:0.3163:0.0:0.0	11.065	0.47190	198	0.92335	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	0.005539	0.000000	0.009511	0.002924	0.000000	0.008621	0.000000	0.011364	0.05	95.43	35	chr16	70132237	.	A	G	95.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.246;DP=429;ExcessHet=0;FS=3.566;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.66;MQRankSum=-0.603;QD=0.81;ReadPosRankSum=-0.713;SOR=0.998	GT:AD:DP:GQ:PL	0/1:101,17:118:99:107,0,2379	9	0	1	0
chr16	70177319	70177319	G	A	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.G295A:p.G99S	.	433	1068	21	0	0	21	0.00973574	.	.	.	3660427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.00229342874219	.	.	5.955e-05	0	0.0002	0	0	7.557e-05	0	0	7.68e-05	2	26028	rs776843053	0.0001	0.0005	0.0001	0.0001	0.0010	0.0001	0.0001	0.0007	0.0006	0.0010	8.972e-05	0.0001	2.539e-05	0	0.0006	6.661e-05	0.0009	0.0001	0.0001	0.0002	0.0001	0.0001	0.0009	7.355e-05	6.063e-05	0.0003	0.0002	0.0002	0	0	0.0003	0	0	0	4.497e-05	0.0005	0.0009	0.824	0.17584	T	0.721	0.12957	T	0.059	0.23051	B	0.025	0.20508	B	0.380192	0.04415	N	1.337120	1	0.08975	N	1.385	0.34509	L	3.12	0.08898	T	0.22	0.04694	N	0.144	0.14480	-0.9987	0.30283	T	0.036	0.15422	T	10	0.052730262	0.05352	T	0.002293	0.04397	T	0.017	0.02790	.	.	0.043077524339	0.03247	0.1883476226636304	0.18752	.	.	.	.	.	0.012624	0.11064	T	-0.297012	0.08945	T	-0.664413	0.07972	T	0.0259131440635412	0.01394	T	0.432757	0.11777	T	0.026957333	0.01821	0.034152143	0.02431	0.026957333	0.01821	0.034152143	0.02431	-2.428	0.05307	T	.	.	0.066	0.02173	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.135741	0.03435	0.629	0.3990226419411706	0.02783	0.03713	0.08999	N	AEFDI	0.067744	0.13331	N	-1.00973544960941	0.08401	0.3937751	-1.17016678467506	0.06413	0.3086307	4.28208711897542E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.67	-3.42	0.04521	-0.273000	0.08580	-0.286000	0.10231	0.368000	0.20244	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.413:0.0:0.236:0.351	2.748	0.04947	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP 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	.	.	.	.	.	.	.	.	0.05	907.43	118	chr16	70177319	.	G	A	907.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.21;DP=1449;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.52;MQRankSum=-5.848;QD=1.92;ReadPosRankSum=-2.716;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:420,52:472:99:0|1:70177319_G_A:919,0,17479:70177319	9	0	1	0
chr16	70177328	70177328	C	T	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon4:c.C304T:p.R102C	.	429	1071	22	0	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00741372403503	.	0.000199681	4.677e-05	0	0.0001	0.0003	0	2.847e-05	0	0	3.84e-05	1	26028	rs533214847	5.895e-05	0.0004	5.726e-05	6.065e-05	0.0011	4.886e-05	4.505e-05	0.0009	0.0008	5.989e-05	6.724e-05	0.0001	0.0011	0	0.0005	1.35e-05	8.314e-05	0.0001	6.023e-05	0.0002	5.228e-05	6.857e-05	0.0006	3.129e-05	2.347e-05	0.0002	9.227e-05	0	0	0	0.0003	0.0004	0	0	1.481e-05	0.0010	0.0006	0.039	0.45393	D	0.107	0.45110	T	0.895	0.49247	P	0.448	0.46037	P	0.084338	0.02388	N	1.740020	1	0.08975	N	1.865	0.49290	L	3.13	0.10008	T	-1.48	0.36189	N	0.205	0.24260	-1.0177	0.24463	T	0.022	0.09330	T	10	0.09364423	0.16588	T	0.007414	0.19657	T	0.157	0.40909	.	.	0.043077524339	0.03247	0.2397432577910385	0.23888	.	.	.	.	.	0.014358	0.12236	T	-0.00945993	0.50340	T	-0.251365	0.49682	T	0.729884922504425	0.42204	D	0.765423	0.39305	T	0.08999967	0.21046	0.049599133	0.07614	0.08999967	0.21045	0.049599133	0.07614	-8.191	0.62365	D	.	.	0.127	0.32030	B	.;.;.;.;.;.	.;.;.;.;.;.	1.321434	0.17257	13.05	0.99629999369341704	0.75959	0.03734	0.09030	N	AEFDI	0.093056	0.18832	N	-0.597350344341462	0.19025	0.9924862	-0.7475599950126	0.15782	0.8317537	2.14520971887058E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.89	1.85	0.24418	-0.236000	0.09019	0.233000	0.16214	0.324000	0.19419	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1692:0.5629:0.2679:0.0	6.173	0.19644	162	0.93704	CAP domain|CAP domain;CAP domain|CAP domain;CAP domain|CAP domain;.;CAP domain|CAP domain;CAP domain|CAP 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	.	.	.	.	.	.	.	.	0.05	1000.43	118	chr16	70177328	.	C	T	1000.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.241;DP=1699;ExcessHet=0;FS=0.848;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=39.99;MQRankSum=-6.013;QD=1.97;ReadPosRankSum=-2.714;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,59:509:99:0|1:70177319_G_A:1012,0,18298:70177319	9	0	1	0
chr16	70185934	70185934	A	G	exonic	CLEC18C	.	nonsynonymous SNV	CLEC18C:NM_173619:exon12:c.A1261G:p.N421D	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0139520277559	.	0.00199681	8.393e-06	0	0	0	0	1.503e-05	0	0	0.0042646	111	26028	rs616457	0.0008	0.0022	0.0008	0.0008	0.0014	0.0008	0.0007	0.0011	0.0010	0.0014	0.0010	0.0014	0.0002	0.0010	0.0005	0.0007	0.0013	0.0010	0.0028	0.0062	0.0029	0.0026	0.0033	0.0025	0.0025	0.0029	0.0028	0.0023	0.0022	0.0027	0.0053	0.0002	0.0015	0.0071	0.0033	0.0052	0.0013	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000011	0.62929	N	0.063063	0.999979	0.18612	N	.	.	.	0.94	0.43672	T	1.86	0.00489	N	0.307	0.34659	-0.9952	0.31245	T	0.031	0.13504	T	10	0.016723007	0.00354	T	0.013952	0.33731	T	0.078	0.22779	.	.	0.043077524339	0.03247	0.13490445504807977	0.13414	.	.	.	.	.	0.002721	0.02115	T	-0.314132	0.07388	T	-0.689006	0.06447	T	0.0523021928966045	0.05899	T	0.176982	0.01724	T	0.05912723	0.11979	0.07924149	0.17822	0.05912723	0.11979	0.07924149	0.17821	6.215	0.00001	T	.	.	0.032	0.00014	B	.;.;.;.;.	.;.;.;.;.	1.936036	0.24588	16.45	0.54744172782596479	0.05199	0.04049	0.09494	N	AEFI	0.026940	0.02113	N	-0.79755993921101	0.13373	0.6583592	-0.533814743124815	0.21237	1.147915	5.14063846359364E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.34	4.34	0.51267	5.193000	0.64958	8.475000	0.77283	-0.108000	0.15293	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.1071:0.0:0.8929:0.0	8.832	0.34252	159	0.93837	C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like;C-type lectin-like|C-type lectin, conserved site|C-type lectin-like|C-type lectin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	186.43	39	chr16	70185934	.	A	G	186.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.7;DP=681;ExcessHet=0;FS=24.357;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=46.48;MQRankSum=-5.557;QD=2.45;ReadPosRankSum=-4.544;SOR=3.11	GT:AD:DP:GQ:PL	0/1:61,15:76:99:198,0,1467	9	0	1	0
chr16	70941672	70941672	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6817G:p.M2273V	Ciliary dyskinesia, primary, 5, Autosomal recessive	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.161	.	0.0159	.	0.0082	0.0893	0.0042	0	0	0.0005	0.0070	7.129e-05	0.0020363	53	26028	rs79215045	0.0010	0.0021	0.0011	0.0009	0.0370	0.0009	0.0009	0.0352	0.0344	0.0370	0.0013	7.881e-05	0	0	0.0021	0.0002	0.0014	7.357e-05	0.0023	0.0092	0.0022	0.0023	0.0086	0.0021	0.0020	0.0078	0.0075	0.0086	0	0.0005	0	0	0	0	5.882e-05	0.0005	0.0002	0.199	0.20456	T	.	.	.	.	.	.	.	.	.	0.260217	0.15330	U	0.467678	0.976955	0.25342	N	2.005	0.54552	M	5.69	0.00751	T	-1.38	0.34198	N	0.63	0.64393	-0.0209	0.81821	T	0.001	0.00287	T	10	0.007629961	0.00173	T	.	.	.	0.161	0.41658	.	.	0.384419519794	0.38055	0.10730925747050389	0.10659	.	.	0.470210492611	0.34709	T	0.062021	0.31806	T	-0.476588	0.00775	T	-0.414868	0.31666	T	0.0524779697529852	0.05930	T	.	.	.	0.1365259	0.31646	0.1991875	0.43788	0.1365259	0.31645	0.1991875	0.43787	-3.302	0.13763	T	.	.	0.112	0.22024	B	.	.	2.619004	0.34034	19.51	0.98937783091767417	0.48883	0.86701	0.46038	D	AEFDBI	0.518237	0.54402	D	0.287658427671525	0.55521	3.71629	0.341819601110523	0.58017	3.969894	0.999999948245124	0.74766	0.495158	0.18159	0	0.563428	0.19063	0	0.535252	0.11790	0	0.542086	0.14980	0	.	.	5.32	5.32	0.75377	3.634000	0.54043	4.193000	0.42417	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.840000	0.39645	0.1368:0.0:0.0:0.8632	11.270	0.48366	552	0.72024	.	.	.	.	.	.	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	0.007049	0.015152	0.010870	0.011696	0.000000	0.008621	0.000000	0.000000	0.05	129.43	33	chr16	70941672	.	T	C	129.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.925;DP=455;ExcessHet=0;FS=0.824;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=47.91;MQRankSum=-5.205;QD=0.86;ReadPosRankSum=0.848;SOR=0.59	GT:AD:DP:GQ:PL	0/1:127,24:151:99:141,0,2952	9	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R	Ciliary dyskinesia, primary, 5, Autosomal recessive	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	239.35	33	chr16	70941764	.	T	C	239.35	.	AC=1;AF=0.056;AN=18;BaseQRankSum=1.18;DP=722;ExcessHet=0;FS=9.989;InbreedingCoeff=-0.0981;MLEAC=1;MLEAF=0.056;MQ=49.77;MQRankSum=-6.528;QD=2.57;ReadPosRankSum=-3.488;SOR=2.017	GT:AD:DP:GQ:PL	0/1:75,18:93:99:250,0,1917	8	0	1	1
chr16	72136729	72136729	C	T	exonic	PMFBP1	.	nonsynonymous SNV	PMFBP1:NM_031293:exon8:c.G1009A:p.E337K,PMFBP1:NM_001160213:exon9:c.G574A:p.E192K	.	423	1091	8	0	0	8	0.00365297	.	.	.	2413409	Spermatogenic_failure_31	MONDO:MONDO:0020852,MedGen:C4748234,OMIM:618112	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.127	0.00779448518587	0.0002	.	0.0003	0	0	0	0	0.0002	0.0022	0.0013	0.0002264	35	154602	rs149368238	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0001	0.0010	0.0009	0	6.708e-05	0	0	0	0.0014	0.0001	0.0001	0.0012	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	2.406e-05	0	0.0003	0	0	0	0.0034	0.0002	0	0.0012	0.384	0.11696	T	0.075	0.53788	T	0.996	0.68779	D	0.987	0.77487	D	0.199400	0.16639	N	0.440251	0.796847	0.29161	N	2.14	0.59869	M	2.59	0.13434	T	-1.3	0.34198	N	0.517	0.64308	-1.0908	0.05400	T	0.061	0.25599	T	10	0.042488426	0.03002	T	0.007794	0.20668	T	0.127	0.34888	.	.	0.0666544352282	0.05500	0.20867051596458122	0.20783	0.199896718356	0.22393	0.611806571484	0.54572	T	0.057749	0.30653	T	-0.420645	0.01694	T	-0.422555	0.30783	T	0.0906359778336558	0.11293	T	0.90141	0.65732	D	0.142079	0.32711	0.1308686	0.31437	0.14184575	0.32667	0.12737517	0.30662	-4.076	0.24935	T	.	.	0.179	0.46562	B	.;.;.	.;.;.	2.918866	0.38741	20.8	0.99910072480018419	0.97949	0.70512	0.34621	D	AEFDGBI	0.174237	0.30135	N	0.155899743919026	0.49090	3.113473	0.0888903474008544	0.43988	2.68936	0.0546093003556453	0.14982	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.85	3.87	0.43823	2.385000	0.44025	5.803000	0.49951	0.599000	0.40250	0.927000	0.32177	1.000000	0.68203	0.496000	0.28927	0.0:0.8268:0.1732:0.0	12.148	0.53340	135	0.94622	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.002518	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	2167.43	33	chr16	72136729	.	C	T	2167.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.006;DP=486;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-1.818;SOR=0.704	GT:AD:DP:GQ:PL	0/1:75,88:163:99:2179,0,1727	9	0	1	0
chr16	75267964	75267964	T	G	exonic	BCAR1	.	nonsynonymous SNV	BCAR1:NM_001170715:exon1:c.A17C:p.E6A	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00430301763862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.672	0.06265	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.9	0.23486	T	0.33	0.03889	N	0.074	0.04790	-0.9804	0.34909	T	0.031	0.13242	T	9	0.07294625	0.10956	T	0.004303	0.10435	T	0.009	0.00846	0.197	0.10975	0.289831133145	0.28582	.	.	.	.	.	.	.	.	.	.	-0.360984	0.04074	T	-0.756305	0.03246	T	0.0577303826341691	0.06807	T	0.412159	0.10706	T	.	.	.	.	.	.	.	.	-2.023	0.03269	T	.	.	0.083	0.09191	B	.	.	0.300655	0.06766	3.279	0.89833504317214896	0.19141	0.00209	0.01192	N	AEFDGBHCI	0.033505	0.03990	N	-1.17287162405034	0.05414	0.2467376	-1.238526058945	0.05303	0.252351	1.0	0.98316	0.514905	0.20481	0	0.578056	0.33634	0	0.603688	0.36954	0	0.662026	0.63922	0	.	.	3.02	-2.92	0.05277	-1.212000	0.03103	-1.053000	0.06477	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1835:0.2932:0.1811:0.3422	0.444	0.00458	737	0.53483	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	389.43	37	chr16	75267964	.	T	G	389.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.24;DP=375;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.49;ReadPosRankSum=-0.361;SOR=0.91	GT:AD:DP:GQ:PL	0/1:33,19:52:99:401,0,738	9	0	1	0
chr16	84059318	84059318	T	C	exonic	MBTPS1	.	nonsynonymous SNV	MBTPS1:NM_003791:exon21:c.A2815G:p.N939D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0426789231699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	1.361e-06	0	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.041	0.50514	D	0.997	0.70673	D	0.815	0.58847	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	1.88	0.23884	T	-3.73	0.70920	D	0.765	0.76296	-0.9545	0.40185	T	0.127	0.43277	T	10	0.7633705	0.76516	D	0.042679	0.60588	D	0.261	0.57352	0.197	0.10975	0.567351761699	0.56399	0.7743259195684004	0.77382	0.191270352614	0.21451	0.79516351223	0.81227	T	0.746305	0.93013	D	-0.109697	0.34817	T	-0.395349	0.33925	T	0.987643837928772	0.78100	D	0.924807	0.72410	D	0.4983987	0.67001	0.4296476	0.66640	0.4983987	0.67002	0.4296476	0.66640	-6.003	0.46305	T	.	.	0.535	0.66155	A	.	.	4.577596	0.72282	25.8	0.99665167262684584	0.78202	0.99295	0.94095	D	AEFDBI	0.893565	0.83166	D	0.667058528996502	0.77478	6.682124	0.66168785338176	0.79482	7.092119	0.999999999969376	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	8.007000	0.88101	7.864000	0.71599	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0:0.0:0.0:1.0	15.731	0.77564	923	0.18507	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	913.43	35	chr16	84059318	.	T	C	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.298;DP=416;ExcessHet=0;FS=1.765;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=0.455;SOR=0.461	GT:AD:DP:GQ:PL	0/1:44,44:88:99:925,0,1017	9	0	1	0
chr16	84495811	84495811	C	T	exonic	MEAK7	.	nonsynonymous SNV	MEAK7:NM_020947:exon3:c.G256A:p.V86M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.0172058339175	7.7e-05	.	1.647e-05	0	8.637e-05	0	0	1.498e-05	0	0	1.29e-05	2	154602	rs367837096	1.026e-05	1.026e-05	5.445e-06	1.513e-05	2.987e-05	6.16e-06	4.89e-06	3.85e-06	2.76e-06	2.987e-05	2.236e-05	0	2.519e-05	0	0	8.093e-06	1.656e-05	2.319e-05	6.577e-06	6.568e-06	1.286e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.003	0.68238	D	0.01	0.67890	D	1.0	0.90584	D	0.923	0.65830	D	0.000578	0.43250	D	0.197328	0.952185	0.26447	N	2.585	0.75554	M	2.11	0.35219	T	-2.13	0.54864	N	0.325	0.36569	-1.0637	0.10855	T	0.097	0.36315	T	10	0.18410471	0.33769	T	0.017206	0.38815	T	0.081	0.23632	.	.	0.18274738541	0.17906	0.5695536254134856	0.56883	0.00588920429376	0.00512	0.364627242088	0.20058	T	0.014865	0.12575	T	-0.165841	0.25866	T	-0.379142	0.35824	T	0.68493789434433	0.40014	D	0.864814	0.57103	D	0.06041708	0.12394	0.12184027	0.29395	0.06041708	0.12394	0.12184027	0.29394	-4.606	0.32247	T	.	.	0.406	0.62306	A	.;.	.;.	2.604460	0.33816	19.45	0.99788110528910257	0.87396	0.12990	0.17599	N	AEFBCI	0.052407	0.09352	N	-0.0632439854393941	0.39013	2.293943	-0.257028119548613	0.29529	1.65516	0.99974344953618	0.42466	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	1.99	0.25423	0.015000	0.13250	-1.847000	0.04619	0.591000	0.32079	0.018000	0.19461	0.000000	0.08366	0.243000	0.23080	0.0:0.6665:0.0:0.3335	7.968	0.29270	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1681.43	35	chr16	84495811	.	C	T	1681.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.403;DP=482;ExcessHet=0;FS=1.203;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.207;SOR=0.716	GT:AD:DP:GQ:PL	0/1:93,77:170:99:1693,0,2058	9	0	1	0
chr16	84988803	84988803	A	C	exonic	ZDHHC7	.	nonsynonymous SNV	ZDHHC7:NM_001145548:exon4:c.T386G:p.I129S	.	431	1082	9	0	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00251097435481	0.0015	0.000399361	0.0020	0	0	0	0	0.0046	0.0042	0.0003	0.0005239	81	154602	rs200342644	0.0012	0.0011	0.0012	0.0012	0.0078	0.0011	0.0011	0.0060	0.0053	0.0006	0.0006	0.0119	2.798e-05	2.027e-05	0.0078	0.0011	0.0018	0.0004	0.0012	0.0012	0.0012	0.0011	0.0018	0.0010	0.0010	0.0012	0.0011	0.0003	0	0.0018	0.0101	0	0	0.0034	0.0014	0.0024	0.0002	0.848	0.02753	T	0.531	0.10069	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.43	0.32958	T	0.19	0.04947	N	0.045	0.01740	-0.9836	0.34164	T	0.030	0.12760	T	8	0.004234612	0.00085	T	0.002511	0.05009	T	.	.	.	.	0.0138822411134	0.00435	0.4432725508332261	0.44245	0.368065819238	0.38365	.	.	.	.	.	.	-0.723945	0.00026	T	-0.825903	0.01337	T	0.000395841692807153	0.00003	T	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-1.625	0.02041	T	.	.	0.090	0.12797	B	.	.	-0.116200	0.03546	0.680	0.26511680681727195	0.01273	0.00195	0.01126	N	AEFDBI	0.015354	0.00288	N	-1.4338685981944	0.02346	0.1035187	-1.5512308271567	0.01967	0.08984418	0.999024151132167	0.38237	0.706548	0.73137	0	0.653731	0.59785	0	0.385369	0.06276	2	0.714379	0.83352	0	.	.	1.73	-0.966	0.09793	-1.535000	0.02315	-0.716000	0.07727	-1.640000	0.00841	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5872:0.2477:0.1651:0.0	4.014	0.09125	970	0.06235	.	.	.	.	.	.	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	0.002299	0.005319	0.006944	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	1091.43	34	chr16	84988803	.	A	C	1091.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.48;DP=423;ExcessHet=0;FS=1.528;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=1.36;SOR=0.74	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1103,0,1391	9	0	1	0
chr16	89223213	89223213	A	C	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_001201407:exon4:c.A174C:p.L58F,ZNF778:NM_001378881:exon4:c.A174C:p.L58F,ZNF778:NM_182531:exon4:c.A174C:p.L58F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.000910065823908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1160998634	8.209e-06	8.209e-06	5.445e-06	1.1e-05	4.497e-06	4.38e-06	3.46e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	0.0001	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.174	0.23271	T	0.064	0.52060	T	0.996	0.68779	D	0.849	0.60615	P	.	.	.	.	1	0.19694	N	.	.	.	4.41	0.02196	T	-2.6	0.69357	D	0.109	0.09490	-0.9860	0.33590	T	0.011	0.04274	T	9	0.18107283	0.33321	T	9.1E-4	0.00866	T	0.049	0.13647	0.507	0.60232	0.470072546239	0.46634	0.02576230043257849	0.02527	0.0190931184289	0.01861	0.231064796448	0.02048	T	0.02089	0.16365	T	-0.232802	0.16279	T	-0.572181	0.15251	T	0.847327351570129	0.49937	D	0.119088	0.00917	T	0.12687463	0.29705	0.14142488	0.33679	0.12687463	0.29705	0.14142488	0.33678	-7.04	0.54325	T	.	.	0.199	0.42170	B	.;.;.	.;.;.	1.356920	0.17655	13.29	0.99641406888843054	0.76695	0.01024	0.03847	N	AEFBI	0.027721	0.02315	N	-0.390834634626758	0.25795	1.40292	-0.598888968988773	0.19521	1.04777	0.00229404298618226	0.09302	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.65	0.502	0.16138	-0.347000	0.07799	-0.773000	0.07487	0.751000	0.87719	0.010000	0.18352	0.000000	0.08366	0.786000	0.37147	0.497:0.3032:0.1997:0.0	2.365	0.04053	819	0.41190	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2237.43	33	chr16	89223213	.	A	C	2237.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.76;DP=490;ExcessHet=0;FS=0.541;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.351;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,92:187:99:0|1:89223213_A_C:2249,0,3705:89223213	9	0	1	0
chr16	89227184	89227184	G	A	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.G812A:p.R271H,ZNF778:NM_001201407:exon7:c.G896A:p.R299H,ZNF778:NM_001378881:exon7:c.G896A:p.R299H	.	432	1076	14	0	0	14	0.00646353	.	.	.	2817990	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.097	0.000700706001017	0.0023	0.00139776	0.0024	0.0008	0.0020	0.0002	0	0.0036	0.0022	0.0008	0.0024321	376	154602	rs183870297	0.0035	0.0035	0.0036	0.0035	0.0111	0.0035	0.0034	0.0089	0.0081	0.0010	0.0024	0.0029	0.0002	7.492e-05	0.0111	0.0040	0.0043	0.0015	0.0026	0.0026	0.0027	0.0026	0.0042	0.0024	0.0023	0.0034	0.0033	0.0010	0	0.0042	0.0040	0.0008	0	0.0068	0.0038	0.0024	0.0019	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.935	0.00016	N	2.63	0.12884	T	5.76	0.00011	N	0.058	0.02964	-0.9371	0.43072	T	0.005	0.01833	T	9	0.005420834	0.00119	T	7.01E-4	0.00435	T	0.097	0.27909	.	.	0.136095386433	0.13204	0.015147297876536781	0.01470	0.00435782311993	0.00387	0.393539071083	0.24167	T	0.004793	0.04206	T	-0.685007	0.00045	T	-0.754823	0.03301	T	0.00479767548091291	0.00051	T	0.245875	0.03603	T	0.012219345	0.00029	0.023916466	0.00405	0.012219345	0.00029	0.023916466	0.00405	-0.142	0.00517	T	.	.	0.074	0.17275	B	.;.;.	.;.;.	-0.372896	0.02317	0.246	0.72451221620821593	0.09978	0.00109	0.00694	N	AEFBCI	0.011613	0.00106	N	-1.5327999540654	0.01638	0.07161176	-1.43926126578857	0.02868	0.132767	0.272703661646599	0.18908	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.13	-0.143	0.12787	2.924000	0.48572	0.484000	0.18835	-0.076000	0.16278	0.148000	0.23625	0.000000	0.08366	0.001000	0.02609	0.7788:0.0:0.2212:0.0	4.470	0.11129	819	0.41190	Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	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	1	0	0.007049	0.005051	0.006793	0.005848	0.000000	0.008621	0.009146	0.007576	0.05	3087.43	163	chr16	89227184	.	G	A	3087.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.069;DP=1492;ExcessHet=0;FS=0.554;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=16.51;ReadPosRankSum=1.07;SOR=0.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,86:187:99:0|1:89227184_G_A:3099,0,3832:89227184	9	0	1	0
chr16	89227697	89227697	C	T	exonic	ZNF778	.	nonsynonymous SNV	ZNF778:NM_182531:exon6:c.C1325T:p.T442I,ZNF778:NM_001201407:exon7:c.C1409T:p.T470I,ZNF778:NM_001378881:exon7:c.C1409T:p.T470I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000979437885762	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1271311452	1.026e-05	1.026e-05	8.167e-06	1.238e-05	7.194e-06	6.16e-06	4.89e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	0.0001	0	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.387	0.10945	T	1.0	0.01155	T	0.129	0.33330	B	0.079	0.29395	B	.	.	.	.	0.999134	0.21587	N	0.325	0.10370	N	2.66	0.12575	T	-0.1	0.08495	N	0.073	0.04668	-0.9780	0.35458	T	0.010	0.03856	T	9	0.04801321	0.04194	T	9.79E-4	0.01026	T	0.012	0.01476	0.425	0.47021	0.206339911435	0.20273	0.006781917739386643	0.00645	0.0211170378769	0.02089	0.378298938274	0.22014	T	0.001409	0.00874	T	-0.265819	0.12227	T	-0.619607	0.11216	T	0.093671787738584	0.11647	T	0.368163	0.10783	T	0.024969794	0.01384	0.03207186	0.01886	0.024969794	0.01384	0.03207186	0.01886	-3.975	0.27040	T	.	.	0.343	0.56078	A	.;.;.	.;.;.	0.121630	0.05188	1.704	0.76453344966059789	0.11474	0.00186	0.01083	N	AEFBHCI	0.028090	0.02410	N	-1.21715616607609	0.04751	0.2150762	-1.24231820359867	0.05246	0.2494891	0.0599830717582301	0.15181	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	1.13	0.091	0.13774	-0.397000	0.07329	-20.000000	0.00162	0.578000	0.29377	0.000000	0.06391	0.000000	0.08366	0.132000	0.19645	0.0:0.4951:0.0:0.5049	3.733	0.08028	819	0.41190	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1677.43	118	chr16	89227697	.	C	T	1677.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.776;DP=943;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=1.25;SOR=0.661	GT:AD:DP:GQ:PL	0/1:68,69:137:99:1689,0,1907	9	0	1	0
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R,FANCA:NM_001286167:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	3	1387	124	8	0	140	0.0480439	.	.	.	137995	not_provided|Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|FANCA-related_disorder	MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0053	0.00938498	0.0103	0.0013	0.0038	0	0.0100	0.0094	0.0099	0.0296	0.0096118	1486	154602	rs17233141	0.0092	0.0093	0.0085	0.0100	0.0324	0.0091	0.0090	0.0314	0.0310	0.0012	0.0043	0.0111	0	0.0093	0.0250	0.0080	0.0100	0.0324	0.0064	0.0064	0.0063	0.0065	0.0255	0.0061	0.0059	0.0218	0.0204	0.0018	0.0011	0.0067	0.0069	0.0002	0.0081	0.0170	0.0079	0.0090	0.0255	0.063	0.37536	T	0.072	0.45110	T	0.257	0.31412	B	0.143	0.33763	B	0.179044	0.17154	N	0.583605	1	0.08975	N	2.24	0.63355	M	-1.88	0.84557	D	-2.16	0.48850	N	0.338	0.39659	-0.7091	0.59997	T	0.315	0.68486	T	10	0.008692145	0.00197	T	.	.	.	0.134	0.36365	0.249	0.18602	.	.	0.17119845704923142	0.17039	.	.	0.284874647856	0.08182	T	0.224342	0.58875	T	-0.321408	0.06783	T	-0.210772	0.53621	T	0.00823742409031721	0.00099	T	0.563744	0.19863	T	0.068879694	0.15043	0.10313486	0.24736	0.086379096	0.20074	0.08347228	0.19130	-4.486	0.30718	T	0.5329796739477456	0.60360	0.201	0.43380	B	.;.	.;.	0.963643	0.13404	9.909	0.93017545135543789	0.22613	0.09317	0.15097	N	AEFBI	0.154989	0.28011	N	-0.867700815936059	0.11617	0.561594	-0.95107218514313	0.10898	0.5518684	0.720075285439065	0.22921	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.77	1.56	0.22423	1.788000	0.38346	3.011000	0.35961	-0.149000	0.12139	0.026000	0.20160	0.585000	0.25641	0.008000	0.08271	0.1928:0.0:0.634:0.1731	4.561	0.11560	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.023185	0.010101	0.017663	0.011696	0.000000	0.025862	0.048780	0.019084	0.2	2415.55	34	chr16	89767168	.	G	C	2415.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.052;DP=368;ExcessHet=0.0405;FS=0;InbreedingCoeff=0.375;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=18.87;ReadPosRankSum=0.371;SOR=0.631	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1205,126,0	7	1	2	0
chr17	410457	410457	C	T	exonic	C17orf97	.	nonsynonymous SNV	C17orf97:NM_001013672:exon1:c.C115T:p.R39C	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00829388124115	0.0003	0.000399361	0.0009	0	0	0	0	0.0022	0.0078	0.0003	0.0003622	56	154602	rs374291590	0.0010	0.0010	0.0010	0.0009	0.0012	0.0009	0.0009	0.0009	0.0009	0.0003	0.0009	0.0003	0	0.0035	0.0012	0.0010	0.0008	0.0001	0.0009	0.0009	0.0009	0.0010	0.0012	0.0008	0.0008	0.0010	0.0009	0.0002	0	0.0006	0.0003	0	0.0036	0	0.0012	0.0014	0	0.017	0.59928	D	0.015	0.61642	D	.	.	.	.	.	.	0.918677	0.08502	N	0.953536	0.999999	0.08975	N	.	.	.	1.36	0.51228	T	-0.48	0.23590	N	0.105	0.09914	-1.0208	0.23454	T	0.064	0.26667	T	10	0.0036291182	0.00066	T	0.008294	0.21954	T	0.027	0.05988	.	.	0.0846915920261	0.08053	0.03836534460788122	0.03782	0.472931182577	0.46528	.	.	.	.	.	.	-0.421278	0.01679	T	-0.423465	0.30680	T	0.0605574960472909	0.07255	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49245	B	.;.;.	.;.;.	0.567596	0.09362	6.142	0.96536086690499112	0.30168	0.06796	0.12820	N	AEFGBHCIJ	0.051395	0.09076	N	-1.60869795648668	0.01221	0.05312134	-1.73909781595368	0.00975	0.04367538	0.999999999999956	0.74766	0.024636	0.00146	3	0.218748	0.04544	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	3.28	-6.57	0.01674	-2.760000	0.00856	-2.840000	0.03308	-0.316000	0.05924	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0855:0.5305:0.1612:0.2228	5.792	0.17630	774	0.48577	.;.;.	.	.	.	.	.	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	0.001663	0.000000	0.001515	0.000000	0.000000	0.000000	0.006803	0.000000	0.05	945.43	34	chr17	410457	.	C	T	945.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.276;DP=377;ExcessHet=0;FS=11.554;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.12;ReadPosRankSum=0.918;SOR=0.061	GT:AD:DP:GQ:PL	0/1:11,36:47:99:957,0,238	9	0	1	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1298.87	21	chr17	413815	.	C	*	1298.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.79;DP=367;ExcessHet=4.5998;FS=0.586;InbreedingCoeff=-0.4286;MLEAC=3;MLEAF=0.15;MQ=48.19;MQRankSum=-1.487;QD=7.69;ReadPosRankSum=-0.374;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,17:25:99:.:.:422,0,281:.	7	0	3	0
chr17	413821	413825	CCCCG	0	exonic	C17orf97	.	.	.	.	468	989	60	4	1	69	0.0332356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	101.87	27	chr17	413821	.	CCCCG	*	101.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.75;DP=368;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.01;MQRankSum=-3.309;QD=0.8;ReadPosRankSum=0.705;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,17:25:99:.:.:422,0,281:.	7	0	3	0
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1471.33	24	chr17	413822	.	C	*	1471.33	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.409;DP=372;ExcessHet=4.5998;FS=1.22;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=45.38;MQRankSum=1.5;QD=8.36;ReadPosRankSum=-0.803;SOR=0.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,17:25:99:.:.:422,0,281:.	6	0	4	0
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1474.36	25	chr17	413824	.	C	*	1474.36	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.338;DP=372;ExcessHet=4.5998;FS=1.203;InbreedingCoeff=-0.4286;MLEAC=4;MLEAF=0.2;MQ=44.73;MQRankSum=1.75;QD=8.19;ReadPosRankSum=-0.836;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,17:25:99:.:.:422,0,281:.	6	0	4	0
chr17	413826	413836	ACCCCAAGGCC	0	exonic	C17orf97	.	.	.	.	483	974	60	4	1	69	0.0337302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	89.87	25	chr17	413826	.	ACCCCAAGGCC	*	89.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.198;DP=374;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.43;MQRankSum=-3.639;QD=0.69;ReadPosRankSum=0.62;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,17:25:99:.:.:422,0,281:.	7	0	3	0
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	1428.57	27	chr17	413831	.	A	*	1428.57	.	AC=4;AF=0.222;AN=18;BaseQRankSum=0.855;DP=385;ExcessHet=5.3821;FS=0.556;InbreedingCoeff=-0.4815;MLEAC=4;MLEAF=0.222;MQ=45.68;MQRankSum=0.554;QD=7.64;ReadPosRankSum=-1.636;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,17:25:99:.:.:422,0,281:.	5	0	4	1
chr17	413838	413854	TCAAGGGCTTCCACCCC	0	exonic	C17orf97	.	.	.	.	529	930	58	4	1	67	0.0342679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	71.87	38	chr17	413838	.	TCAAGGGCTTCCACCCC	*	71.87	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.84;DP=387;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.25;MLEAC=3;MLEAF=0.15;MQ=57.25;MQRankSum=-3.407;QD=0.52;ReadPosRankSum=0.427;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,17:25:99:.:.:422,0,281:.	7	0	3	0
chr17	4551894	4551894	C	T	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon8:c.G1009A:p.V337M,MYBBP1A:NM_014520:exon8:c.G1009A:p.V337M	.	423	1094	5	0	0	5	0.00227998	.	.	.	740824	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.116	0.0106028199985	0.0012	0.000998403	0.0013	0.0003	0.0010	0.0001	0	0.0020	0.0023	0.0005	0.0013325	206	154602	rs115682714	0.0018	0.0018	0.0018	0.0017	0.0021	0.0017	0.0017	0.0020	0.0020	0.0002	0.0011	0.0013	0.0001	5.657e-05	0.0016	0.0021	0.0020	0.0010	0.0011	0.0011	0.0012	0.0011	0.0019	0.0010	0.0009	0.0016	0.0015	0.0004	0	0.0013	0.0006	0.0002	0	0	0.0019	0.0005	0.0006	0.646	0.04912	T	0.658	0.06554	T	0.308	0.33788	B	0.03	0.25278	B	0.348570	0.04231	N	1.328290	1	0.08975	N	-0.805	0.01590	N	-0.4	0.69287	T	-0.26	0.11185	N	0.213	0.23758	-1.0025	0.29197	T	0.039	0.16677	T	10	0.012791246	0.00274	T	0.010603	0.27324	T	0.116	0.32463	.	.	0.572452295634	0.56912	0.2304014011421641	0.22955	.	.	0.229720920324	0.01947	T	0.023633	0.18008	T	-0.463586	0.00933	T	-0.444853	0.28265	T	0.00478832593720813	0.00051	T	0.725427	0.33942	T	0.013463164	0.00060	0.024377821	0.00457	0.013463164	0.00060	0.024377821	0.00457	-5.367	0.40621	T	.	.	0.116	0.23465	B	.;.	.;.	-0.752981	0.01203	0.059	0.13674276430419924	0.00277	0.06005	0.11969	N	AEFDGBI	0.035377	0.04543	N	-1.78604843851278	0.00580	0.02499573	-1.8575701406849	0.00592	0.02628979	0.99999997376717	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.94	-9.88	0.00387	-0.238000	0.08995	-1.725000	0.04842	-0.228000	0.07776	0.002000	0.15269	0.000000	0.08366	0.026000	0.12556	0.2396:0.4202:0.2032:0.137	3.124	0.06016	749	0.51929	.;.	.	.	.	.	.	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	1	0	0.002018	0.005051	0.001362	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1169.43	63	chr17	4551894	.	C	T	1169.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.758;DP=530;ExcessHet=0;FS=3.142;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=1.36;SOR=0.4	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1181,0,822	9	0	1	0
chr17	4898816	4898816	C	G	exonic	CHRNE	.	nonsynonymous SNV	CHRNE:NM_000080:exon12:c.G1402C:p.V468L	Myasthenic syndrome, congenital, 4A, slow-channel, Autosomal recessive, Autosomal dominant;Myasthenic syndrome, congenital, 4B, fast-channel, Autosomal recessive;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, Autosomal recessive	0	1438	80	4	0	88	0.0296896	.	.	.	134213	Congenital_myasthenic_syndrome_4B|Congenital_myasthenic_syndrome_4A|Congenital_myasthenic_syndrome_4C|Congenital_myasthenic_syndrome|not_specified|not_provided	MONDO:MONDO:0014586,MedGen:C4225369,OMIM:616324,Orphanet:590|MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809,Orphanet:590|MONDO:MONDO:0012157,MedGen:C1837091,OMIM:608931,Orphanet:590|MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0049	0.00658946	0.0116	0.0024	0.0058	0	0.0009	0.0122	0.0085	0.0239	0.0070956	1097	154602	rs139171143	0.0082	0.0082	0.0077	0.0087	0.0202	0.0081	0.0080	0.0194	0.0191	0.0010	0.0042	0.0137	0	0.0009	0.0144	0.0081	0.0089	0.0202	0.0056	0.0056	0.0052	0.0059	0.0168	0.0053	0.0051	0.0138	0.0128	0.0011	0	0.0075	0.0147	0.0002	0.0006	0.0102	0.0078	0.0066	0.0168	0.439	0.09291	T	0.781	0.04316	T	0.006	0.13644	B	0.012	0.16012	B	0.124231	0.18888	N	0.544079	1	0.08975	N	-1.03	0.01126	N	-1.78	0.83737	D	0.04	0.06488	N	0.026	0.00527	-0.9563	0.39861	T	0.170	0.51149	T	10	0.0081155	0.00184	T	.	.	.	0.193	0.47281	0.524	0.62818	0.73970075848	0.73736	0.5108977494356424	0.51011	0.173132123751	0.19504	0.436431020498	0.30089	T	0.123991	0.44873	T	-0.44225	0.01254	T	-0.392443	0.34266	T	0.00471746528373489	0.00050	T	0.568443	0.20183	T	0.0839231	0.19401	0.05937821	0.11132	0.09259061	0.21725	0.05937821	0.11131	-4.574	0.31843	T	0.07255126532831871	0.02984	0.082	0.08705	B	.;.	.;.	1.464950	0.18879	13.97	0.944513145183004	0.24882	0.11588	0.16732	N	AEFDGBCI	0.135937	0.25643	N	-0.833096516067367	0.12471	0.6080328	-0.71362750297996	0.16621	0.8801673	0.999998109444355	0.74766	0.660377	0.49826	0	0.759151	0.99529	0	0.536957	0.11973	0	0.592323	0.36904	0	.	.	4.91	0.885	0.18323	-0.492000	0.06547	-0.945000	0.06834	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2577:0.3665:0.3758:0.0	7.891	0.28840	296	0.88164	Neurotransmitter-gated ion-channel transmembrane domain;Neurotransmitter-gated ion-channel transmembrane domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.016633	0.000000	0.010899	0.008824	0.000000	0.000000	0.027439	0.045455	0.1	3393.14	34	chr17	4898816	.	C	G	3393.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.39;DP=664;ExcessHet=0.2348;FS=4.216;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.19;ReadPosRankSum=1.47;SOR=0.515	GT:AD:DP:GQ:PL	0/1:104,78:182:99:1691,0,2461	8	0	2	0
chr17	4933907	4933923	ACCACCCCAGAGCCCAC	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	625	661	31	11	194	247	0.0385455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	2999.71	129	chr17	4933907	.	ACCACCCCAGAGCCCAC	*	2999.71	.	AC=12;AF=0.6;AN=20;BaseQRankSum=-2.686;DP=1317;ExcessHet=0.0952;FS=1.935;InbreedingCoeff=0.3407;MLEAC=12;MLEAF=0.6;MQ=59.44;MQRankSum=0.207;QD=3.86;ReadPosRankSum=-0.518;SOR=0.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,45:58:99:.:.:1448,0,160:.	3	5	2	0
chr17	4933915	4933915	A	0	exonic	GP1BA	.	.	.	Bernard-Soulier syndrome, type A1 (recessive), Autosomal recessive;Bernard-Soulier syndrome, type A2 (dominant), Autosomal dominant;von Willebrand disease, platelet-type, Autosomal dominant	1045	137	36	84	220	424	0.426778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7222	1204.92	129	chr17	4933915	.	A	*	1204.92	.	AC=13;AF=0.722;AN=18;BaseQRankSum=-3.635;DP=1346;ExcessHet=1.8123;FS=4.609;InbreedingCoeff=-0.1556;MLEAC=14;MLEAF=0.778;MQ=59.67;MQRankSum=1.23;QD=1.34;ReadPosRankSum=-3.271;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:13,45:58:99:.:.:1448,0,160:.	1	5	3	1
chr17	6589815	6589815	G	A	exonic	KIAA0753	.	nonsynonymous SNV	KIAA0753:NM_001351225:exon18:c.C1853T:p.A618V,KIAA0753:NM_014804:exon18:c.C2750T:p.A917V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.0145602795894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.84e-07	0	1.376e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.28772	T	0.0	0.92824	D	0.979	0.59044	D	0.603	0.50895	P	0.000004	0.62929	D	0.104953	0.664484	0.30419	N	.	.	.	1.17	0.37910	T	-1.54	0.37375	N	0.538	0.56576	-0.8296	0.53327	T	0.119	0.41735	T	10	0.27429348	0.44982	T	0.01456	0.34757	T	0.135	0.36572	0.418	0.45873	0.396044805602	0.39223	0.28109843169124854	0.28022	0.436420371793	0.43731	0.497470617294	0.38475	T	0.034669	0.23413	T	0.0333114	0.56164	T	-0.189927	0.55596	T	0.949051916599274	0.63029	D	0.820918	0.51273	T	0.07941727	0.18141	0.109582745	0.26412	0.07941727	0.18141	0.109582745	0.26411	-6.993	0.53983	T	.	.	0.167	0.42332	B	.;.;.	.;.;.	4.654260	0.74218	26.1	0.99931835080865739	0.99387	0.88976	0.49173	D	AEFBI	0.258936	0.37738	N	0.527522944140358	0.68724	5.256619	0.545656182238579	0.71097	5.603	0.998914449077123	0.37962	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.64	5.64	0.86480	2.876000	0.48197	9.707000	0.81321	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.868000	0.41282	0.0:0.0:0.8334:0.1666	12.526	0.55431	846	0.36215	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1281.14	34	chr17	6589815	.	G	A	1281.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.992;DP=396;ExcessHet=0.2348;FS=3.416;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.95;ReadPosRankSum=1.27;SOR=0.424	GT:AD:DP:GQ:PL	0/1:27,36:63:99:800,0,593	8	0	2	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	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	707.24	133	chr17	6800775	.	C	G	707.24	.	AC=2;AF=0.143;AN=14;BaseQRankSum=-2.798;DP=1085;ExcessHet=0.2348;FS=431.21;InbreedingCoeff=-0.2121;MLEAC=2;MLEAF=0.143;MQ=60;MQRankSum=0;QD=2.35;ReadPosRankSum=2.89;SOR=9.346	GT:AD:DP:GQ:PL	0/1:108,60:168:99:530,0,1617	5	0	2	3
chr17	6996965	6996965	T	C	exonic	ALOX12	.	nonsynonymous SNV	ALOX12:NM_000697:exon2:c.T275C:p.V92A	.	419	1102	1	0	0	1	0.000453515	.	.	.	2282345	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	0.00644569914697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.394e-06	2.052e-06	1.382e-06	1.406e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.684e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.502	0.07695	T	0.309	0.19782	T	0.0	0.02946	B	0.002	0.06944	B	0.851943	0.07063	N	1.067470	1	0.08975	N	-1.075	0.01037	N	-0.31	0.68030	T	0.26	0.04380	N	0.087	0.06454	-1.0208	0.23454	T	0.118	0.41582	T	10	0.037715167	0.02143	T	0.006446	0.16956	T	0.048	0.13305	0.588	0.71623	0.296679040009	0.29266	0.33807596284387614	0.33720	0.334617168617	0.35475	0.341922134161	0.16726	T	0.054641	0.29782	T	-0.243119	0.14954	T	-0.587	0.13927	T	0.0205092692134613	0.00751	T	0.0447955	0.00316	T	0.030439535	0.02707	0.030436397	0.01499	0.030439535	0.02706	0.030436397	0.01499	-3.075	0.11011	T	.	.	0.055	0.00368	B	.	.	0.830975	0.12026	8.581	0.6860442427522736	0.08709	0.00401	0.02002	N	AEFDBI	0.021120	0.00906	N	-1.113230867062	0.06407	0.2948187	-1.07153316939108	0.08264	0.4055771	0.491012891613694	0.20863	0.635344	0.42169	0	0.577304	0.33150	0	0.654045	0.52621	0	0.636168	0.56350	0	.	.	4.77	0.145	0.14124	-0.183000	0.09707	-0.608000	0.08236	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.536000	0.29845	0.3513:0.4545:0.0:0.1942	3.453	0.07074	764	0.49969	PLAT/LH2 domain|PLAT/LH2 domain|PLAT/LH2 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	1	0	.	.	.	.	.	.	.	.	0.05	1078.43	37	chr17	6996965	.	T	C	1078.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.084;DP=422;ExcessHet=0;FS=0.777;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=-1.602;SOR=0.602	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1090,0,1126	9	0	1	0
chr17	7719805	7719805	G	A	exonic	DNAH2	.	nonsynonymous SNV	DNAH2:NM_001303270:exon2:c.G71A:p.R24Q,DNAH2:NM_020877:exon2:c.G71A:p.R24Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.0045725035546	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937116671	4.106e-06	4.104e-06	2.724e-06	5.503e-06	5.978e-05	1.48e-06	9.7e-07	9.9e-06	3.7e-06	5.978e-05	0	0	0	0	0	2.699e-06	1.657e-05	0	1.314e-05	1.313e-05	0	2.689e-05	4.823e-05	2.18e-06	8.2e-07	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	0	0	0	0.323	0.13436	T	0.028	0.54934	D	0.016	0.24389	B	0.002	0.21540	B	0.000948	0.00714	N	7.592260	1	0.08975	N	0.205	0.09354	N	1.03	0.40469	T	-0.51	0.15986	N	0.132	0.12770	-1.0049	0.28487	T	0.062	0.25780	T	10	0.058633387	0.06923	T	0.004573	0.11283	T	0.025	0.05312	0.216	0.13643	0.141422826196	0.13715	0.19525342462904896	0.19442	0.212132360163	0.23708	0.304152160883	0.11023	T	0.013595	0.11729	T	-0.37777	0.03218	T	-0.597649	0.13010	T	0.0196152205864631	0.00664	T	0.590441	0.21717	T	0.03182752	0.03093	0.04287302	0.05207	0.03182752	0.03093	0.04287302	0.05206	-3.991	0.23669	T	.	.	0.090	0.12891	B	.;.;.	.;.;.	0.216518	0.05992	2.435	0.89427561080289486	0.18787	0.02052	0.06131	N	AEFDBI	0.036205	0.04786	N	-1.1979303155935	0.05031	0.2284312	-1.21056052424474	0.05739	0.2743197	0.00386312418723576	0.10312	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.33	0.092	0.13780	-0.223000	0.09182	-0.739000	0.07628	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4478:0.0:0.5522:0.0	6.145	0.19499	524	0.74079	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	1446.14	34	chr17	7719805	.	G	A	1446.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=3.88;DP=411;ExcessHet=0.2348;FS=0.686;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=1.05;SOR=0.57	GT:AD:DP:GQ:PL	0/1:33,17:50:99:461,0,741	8	0	2	0
chr17	7934468	7934468	A	G	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.A359G:p.D120G,CNTROB:NM_001330124:exon3:c.A359G:p.D120G,CNTROB:NM_001353202:exon3:c.A359G:p.D120G,CNTROB:NM_001353205:exon3:c.A92G:p.D31G,CNTROB:NM_053051:exon3:c.A359G:p.D120G,CNTROB:NM_001353203:exon4:c.A359G:p.D120G,CNTROB:NM_001353206:exon4:c.A359G:p.D120G,CNTROB:NM_001353207:exon4:c.A359G:p.D120G,CNTROB:NM_001353208:exon4:c.A359G:p.D120G,CNTROB:NM_001353209:exon4:c.A359G:p.D120G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00523948576971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.07e-06	0.0001	1.374e-06	2.772e-06	2.237e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.237e-05	0	0	0	0	1.818e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.012	0.65728	D	0.288	0.32258	B	0.168	0.35187	B	0.021393	0.26843	N	0.301427	0.984455	0.24799	N	1.795	0.47270	L	0.85	0.49358	T	-2.99	0.62630	D	0.272	0.32812	-1.0241	0.22377	T	0.111	0.39770	T	10	0.15230682	0.28772	T	0.005239	0.13371	T	0.044	0.11924	0.309	0.28128	0.451786746415	0.44804	0.381869656442711	0.38101	0.406878868609	0.41558	0.385712146759	0.23063	T	0.144684	0.48144	T	-0.089869	0.38098	T	-0.366867	0.37255	T	0.82710725069046	0.48307	D	0.775922	0.40781	T	0.09874078	0.23293	0.17352399	0.39684	0.09874078	0.23293	0.17352399	0.39683	-2.745	0.07759	T	.	.	0.114	0.22573	B	.;.;.;.;.	.;.;.;.;.	2.237501	0.28571	17.84	0.99668712484583399	0.78458	0.14736	0.18559	N	AEFDBI	0.091790	0.18588	N	-0.600480469983537	0.18930	0.9867874	-0.583204768381323	0.19931	1.071572	0.999976743798361	0.50053	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.07	2.49	0.29274	0.522000	0.22617	3.854000	0.40103	0.756000	0.94297	0.297000	0.25297	0.995000	0.32472	0.658000	0.32913	0.6095:0.2398:0.0:0.1507	6.043	0.18970	693	0.58582	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	214.14	34	chr17	7934468	.	A	G	214.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.252;DP=458;ExcessHet=0.2348;FS=56.562;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.51;ReadPosRankSum=1.14;SOR=6.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,14:76:99:0|1:7934468_A_G:175,0,2415:7934468	8	0	2	0
chr17	7934470	7934470	C	T	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.C361T:p.P121S,CNTROB:NM_001330124:exon3:c.C361T:p.P121S,CNTROB:NM_001353202:exon3:c.C361T:p.P121S,CNTROB:NM_001353205:exon3:c.C94T:p.P32S,CNTROB:NM_053051:exon3:c.C361T:p.P121S,CNTROB:NM_001353203:exon4:c.C361T:p.P121S,CNTROB:NM_001353206:exon4:c.C361T:p.P121S,CNTROB:NM_001353207:exon4:c.C361T:p.P121S,CNTROB:NM_001353208:exon4:c.C361T:p.P121S,CNTROB:NM_001353209:exon4:c.C361T:p.P121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.00399080164731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.387	0.10945	T	0.518	0.18018	T	0.0	0.02946	B	0.003	0.08700	B	0.387036	0.13308	N	0.660748	1	0.08975	N	0.55	0.14455	N	1.46	0.32722	T	-0.77	0.22294	N	0.132	0.12770	-1.0174	0.24560	T	0.036	0.15465	T	10	0.041531652	0.02816	T	0.003991	0.09462	T	0.073	0.21317	0.308	0.27967	0.16115917748	0.15686	0.2522329388106393	0.25137	0.226757036249	0.25220	0.26304256916	0.05258	T	0.007547	0.09450	T	-0.241225	0.15192	T	-0.58428	0.14166	T	0.0219995063794558	0.00909	T	0.651035	0.26183	T	0.02489815	0.01368	0.028258974	0.01046	0.02489815	0.01367	0.028258974	0.01046	-3.353	0.14695	T	.	.	0.064	0.02399	B	.;.;.;.;.	.;.;.;.;.	0.697913	0.10668	7.364	0.88637082526403799	0.18134	0.01619	0.05233	N	AEFDBI	0.046597	0.07756	N	-1.17232079480329	0.05422	0.2471509	-1.16897397632264	0.06434	0.3096923	0.999984060705785	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.07	-3.22	0.04808	-0.365000	0.07626	0.107000	0.14728	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.629000	0.32131	0.1351:0.2271:0.3622:0.2757	1.656	0.02615	693	0.58582	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	206.14	34	chr17	7934470	.	C	T	206.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.136;DP=437;ExcessHet=0.2348;FS=57.042;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=1.88;SOR=6.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,14:78:99:0|1:7934468_A_G:170,0,2456:7934468	8	0	2	0
chr17	7934471	7934471	C	G	exonic	CNTROB	.	nonsynonymous SNV	CNTROB:NM_001037144:exon3:c.C362G:p.P121R,CNTROB:NM_001330124:exon3:c.C362G:p.P121R,CNTROB:NM_001353202:exon3:c.C362G:p.P121R,CNTROB:NM_001353205:exon3:c.C95G:p.P32R,CNTROB:NM_053051:exon3:c.C362G:p.P121R,CNTROB:NM_001353203:exon4:c.C362G:p.P121R,CNTROB:NM_001353206:exon4:c.C362G:p.P121R,CNTROB:NM_001353207:exon4:c.C362G:p.P121R,CNTROB:NM_001353208:exon4:c.C362G:p.P121R,CNTROB:NM_001353209:exon4:c.C362G:p.P121R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.00859113575964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.337e-05	0.0006	2.19e-05	2.486e-05	2.985e-05	1.682e-05	1.485e-05	2.129e-05	1.873e-05	0	0	0	0	0	0	2.985e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.49117	D	0.17	0.40267	T	0.372	0.34134	B	0.16	0.34752	B	0.387036	0.13308	N	0.660748	1	0.08975	N	1.445	0.36358	L	1.39	0.34253	T	-1.52	0.37955	N	0.231	0.25989	-1.0510	0.14119	T	0.072	0.29323	T	10	0.07780191	0.12323	T	0.008591	0.22705	T	0.033	0.08068	0.325	0.30711	0.344710718752	0.34073	0.25439590010965324	0.25353	0.417156267166	0.42343	0.296725541353	0.09915	T	0.016269	0.16841	T	-0.149373	0.28408	T	-0.452341	0.27439	T	0.226929381489754	0.21804	T	0.714629	0.32694	T	0.051589303	0.09496	0.055391233	0.09708	0.051589303	0.09495	0.055391233	0.09707	-3.818	0.21253	T	.	.	0.109	0.20819	B	.;.;.;.;.	.;.;.;.;.	1.291841	0.16929	12.85	0.99442245784784034	0.64820	0.08192	0.14152	N	AEFDBI	0.101822	0.20440	N	-0.638349544729057	0.17800	0.9190736	-0.62519937654421	0.18847	1.008602	0.999982481297226	0.51787	0.732398	0.92422	0	0.581341	0.33841	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	5.16	3.04	0.34171	0.635000	0.24318	1.081000	0.23892	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.597000	0.31313	0.1649:0.7466:0.0:0.0885	8.208	0.30627	693	0.58582	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	199.14	80	chr17	7934471	.	C	G	199.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.992;DP=484;ExcessHet=0.2348;FS=54.053;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.38;ReadPosRankSum=2.08;SOR=6.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,13:77:99:0|1:7934468_A_G:163,0,2459:7934468	8	0	2	0
chr17	8047001	8047001	G	A	exonic	ALOX15B	.	nonsynonymous SNV	ALOX15B:NM_001039130:exon9:c.G1295A:p.R432Q,ALOX15B:NM_001039131:exon9:c.G1295A:p.R432Q,ALOX15B:NM_001141:exon10:c.G1382A:p.R461Q	.	427	1054	40	1	0	42	0.0195349	.	.	.	578554	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.125	.	0.0015	0.00459265	0.0037	0	0.0023	0.0002	0.0005	0.0025	0.0044	0.0153	0.0034346	531	154602	rs140623478	0.0023	0.0023	0.0019	0.0028	0.0151	0.0023	0.0023	0.0145	0.0142	5.974e-05	0.0015	0.0063	0.0004	0.0007	0.0149	0.0014	0.0033	0.0151	0.0017	0.0017	0.0014	0.0020	0.0157	0.0015	0.0014	0.0129	0.0118	0.0002	0	0.0012	0.0026	0.0002	0.0007	0.0102	0.0019	0.0033	0.0157	0.548	0.06627	T	0.799	0.06186	T	0.047	0.21998	B	0.015	0.17295	B	0.318346	0.14314	N	0.693986	1	0.08975	N	1.19	0.30124	L	-1.0	0.89822	T	-0.84	0.22944	N	0.047	0.12913	-1.0231	0.22704	T	0.093	0.35283	T	10	0.004040092	0.00079	T	.	.	.	0.125	0.34456	.	.	0.829266058896	0.82765	0.13121228922708775	0.13046	0.180147681555	0.20266	0.22074136138	0.01353	T	0.037255	0.49159	T	-0.50788	0.00516	T	-0.489987	0.23393	T	0.00877906586440529	0.00108	T	0.675632	0.49916	T	0.17987497	0.39080	0.11099009	0.26769	0.17987497	0.39079	0.11099009	0.26769	-3.913	0.29557	T	.	.	0.066	0.05579	B	.;.;.;.	.;.;.;.	0.863510	0.12360	8.898	0.93370035639790705	0.23114	0.02386	0.06774	N	AEFDBI	0.052326	0.09328	N	-1.02063380860431	0.08176	0.3824504	-0.973970329652777	0.10372	0.5219682	0.462231983486308	0.20634	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	4.69	-1.12	0.09306	-0.838000	0.04480	-3.749000	0.02563	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.647000	0.32611	0.5309:0.1675:0.3016:0.0	4.854	0.12910	373	0.84140	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-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	0.009063	0.005051	0.005435	0.008772	0.000000	0.017241	0.009146	0.022727	0.05	1175.43	37	chr17	8047001	.	G	A	1175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.78;DP=441;ExcessHet=0;FS=1.475;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.63;ReadPosRankSum=0.049;SOR=0.521	GT:AD:DP:GQ:PL	0/1:71,51:122:99:1187,0,1694	9	0	1	0
chr17	8797401	8797401	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G1720A:p.D574N	.	429	1064	28	1	0	30	0.0139018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	.	0.0079	0.00539137	0.0055	0.0133	0.0050	0.0001	0.0011	0.0044	0.0073	0.0120	0.0050517	781	154602	rs78093130	0.0046	0.0046	0.0044	0.0049	0.0182	0.0045	0.0045	0.0153	0.0143	0.0132	0.0061	0.0093	2.52e-05	0.0007	0.0182	0.0039	0.0068	0.0105	0.0075	0.0075	0.0075	0.0075	0.0134	0.0071	0.0070	0.0125	0.0121	0.0134	0	0.0112	0.0095	0.0002	0.0009	0.0340	0.0042	0.0142	0.0079	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.865	0.83145	M	0.24	0.59583	T	-2.21	0.49684	N	0.756	0.75466	-0.3725	0.72885	T	0.297	0.66811	T	10	0.0095127225	0.00214	T	.	.	.	0.224	0.52174	.	.	0.286848849266	0.28300	0.5179236485926154	0.51715	0.543095098763	0.51396	0.44236305356	0.30900	T	0.158371	0.50136	T	-0.463985	0.00928	T	-0.426935	0.30284	T	0.0243137189435951	0.01184	T	0.79532	0.43818	T	0.43405905	0.63017	0.42509794	0.66329	0.43405905	0.63018	0.42509794	0.66329	-4.626	0.32497	T	.	.	0.301	0.53032	B	.	.	4.566878	0.72014	25.8	0.99921911490346371	0.98787	0.97379	0.74376	D	AEFDGBCI	0.845194	0.76211	D	0.730967522348583	0.81665	7.575155	0.69538486868589	0.82028	7.666637	0.999998679757311	0.74766	0.486886	0.10167	0	0.552637	0.17590	0	0.49644	0.08281	0	0.478617	0.07155	0	.	.	5.03	5.03	0.67015	6.696000	0.74423	3.791000	0.39830	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.641000	0.32449	0.0:1.0:0.0:0.0	17.306	0.87082	803	0.44167	.	.	.	.	.	.	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	0.021148	0.040404	0.027174	0.014620	0.050000	0.025862	0.018293	0.003788	0.05	1857.43	34	chr17	8797401	.	C	T	1857.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.253;DP=538;ExcessHet=0;FS=0.574;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-1.219;SOR=0.749	GT:AD:DP:GQ:PL	0/1:83,81:164:99:1869,0,1913	9	0	1	0
chr17	8797926	8797926	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G1195A:p.G399S	.	425	1071	25	1	0	27	0.0124481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.00561956116928	0.0027	0.00299521	0.0034	0.0021	0.0012	0.0031	0.0011	0.0031	0.0033	0.0079	0.0031694	490	154602	rs138080986	0.0035	0.0035	0.0032	0.0037	0.0106	0.0034	0.0034	0.0085	0.0081	0.0024	0.0019	0.0001	0.0081	0.0007	0.0106	0.0032	0.0033	0.0088	0.0028	0.0028	0.0028	0.0028	0.0067	0.0026	0.0025	0.0049	0.0042	0.0019	0	0.0035	0	0.0050	0.0009	0.0103	0.0031	0.0047	0.0067	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.002	0.06944	B	0.091935	0.20300	N	0.522168	0.997606	0.22589	N	-2.035	0.00180	N	-1.05	0.76690	T	2.3	0.00290	N	0.077	0.05162	-0.9137	0.46390	T	0.058	0.24279	T	10	0.0037046075	0.00068	T	0.00562	0.14530	T	0.093	0.26882	.	.	0.0716867268079	0.06686	0.08918031029610947	0.08851	0.111762492413	0.12611	0.29768538475	0.10056	T	0.002332	0.01729	T	-0.51422	0.00475	T	-0.505727	0.21754	T	0.00011221515064836	0.00001	T	0.572743	0.20478	T	0.031209076	0.02920	0.046836205	0.06615	0.031209076	0.02919	0.046836205	0.06615	-0.666	0.00695	T	.	.	0.052	0.00207	B	.	.	0.820028	0.11909	8.475	0.83042996265959756	0.14511	0.13705	0.18006	N	AEFBCI	0.072097	0.14377	N	-1.55569078752474	0.01502	0.06556224	-1.37378368282263	0.03534	0.1650236	0.122144839200761	0.16907	0.614807	0.35715	0	0.552637	0.17590	0	0.616094	0.41390	0	0.530356	0.10902	0	.	.	5.4	0.306	0.15053	1.627000	0.36661	-0.355000	0.09716	-0.167000	0.11441	0.982000	0.35529	0.010000	0.20010	0.691000	0.33868	0.0:0.2986:0.136:0.5655	5.590	0.16579	808	0.43318	Major facilitator superfamily associated domain|Major facilitator superfamily 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	0.009567	0.000000	0.009511	0.008772	0.050000	0.017241	0.018293	0.007576	0.05	3533.43	34	chr17	8797926	.	C	T	3533.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.736;DP=843;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.44;ReadPosRankSum=0.48;SOR=0.705	GT:AD:DP:GQ:PL	0/1:123,140:263:99:3545,0,2938	9	0	1	0
chr17	8797997	8797997	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1124T:p.T375I	.	428	1069	24	1	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.0204920011081	0.0028	0.00179712	0.0031	0.0021	0.0012	0.0001	0.0011	0.0031	0.0033	0.0076	0.0029236	452	154602	rs111767864	0.0032	0.0032	0.0029	0.0034	0.0106	0.0031	0.0031	0.0085	0.0079	0.0024	0.0019	0.0001	2.519e-05	0.0007	0.0106	0.0031	0.0032	0.0086	0.0026	0.0026	0.0027	0.0025	0.0062	0.0024	0.0023	0.0045	0.0039	0.0020	0	0.0035	0	0.0002	0.0009	0.0103	0.0030	0.0047	0.0062	0.078	0.33923	T	0.117	0.36365	T	0.0	0.02946	B	0.0	0.01387	B	0.005984	0.32354	N	0.239860	1	0.08975	N	-0.345	0.03330	N	-2.02	0.85542	D	0.66	0.02297	N	0.1	0.08227	-0.8602	0.51249	T	0.250	0.61912	T	10	0.008372992	0.00190	T	0.020492	0.43095	T	0.180	0.45073	.	.	0.12205267543	0.11705	0.19717208777668382	0.19634	0.121136093856	0.13646	0.263680249453	0.05336	T	0.002572	0.01964	T	-0.408257	0.02042	T	-0.3538	0.38770	T	0.00563107565943834	0.00061	T	0.309269	0.05988	T	0.037358418	0.04774	0.04124991	0.04644	0.037358418	0.04773	0.04124991	0.04643	-2.543	0.06082	T	.	.	0.083	0.09336	B	.	.	0.772079	0.11419	8.030	0.92407789139020891	0.21822	0.02169	0.06362	N	AEFDBCI	0.040116	0.05921	N	-1.12414462355394	0.06216	0.2855444	-1.035878896473	0.09003	0.4455951	0.980862851411514	0.30187	0.615465	0.37627	0	0.552637	0.17590	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.12	4.05	0.46415	2.458000	0.44671	3.742000	0.39654	-0.040000	0.17491	0.094000	0.22667	0.992000	0.31684	0.001000	0.02609	0.8417:0.0:0.1583:0.0	8.665	0.33280	808	0.43318	Major facilitator superfamily associated domain|Major facilitator superfamily 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	0.009567	0.000000	0.009511	0.008772	0.050000	0.017241	0.018293	0.007576	0.05	2848.43	34	chr17	8797997	.	G	A	2848.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.54;DP=830;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.225;SOR=0.714	GT:AD:DP:GQ:PL	0/1:134,117:251:99:2860,0,3329	9	0	1	0
chr17	8798496	8798496	C	T	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.G625A:p.A209T	.	429	1068	24	1	0	26	0.0120259	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00876814844764	0.0025	0.00119808	0.0026	0.0021	0.0012	0	0.0011	0.0025	0.0023	0.0067	0.002348	363	154602	rs144238966	0.0024	0.0024	0.0022	0.0026	0.0096	0.0024	0.0023	0.0076	0.0068	0.0020	0.0019	0.0001	0	0.0006	0.0096	0.0023	0.0025	0.0071	0.0021	0.0021	0.0022	0.0020	0.0043	0.0019	0.0018	0.0029	0.0025	0.0019	0	0.0035	0	0	0.0009	0.0136	0.0021	0.0043	0.0043	0.595	0.05720	T	0.624	0.07342	T	0.094	0.25382	B	0.062	0.26930	B	0.469240	0.04916	N	1.320320	1	0.08975	N	0.75	0.19020	N	0.79	0.49068	T	-0.5	0.15782	N	0.028	0.00618	-1.0516	0.13954	T	0.071	0.29066	T	10	0.0038802028	0.00073	T	0.008768	0.23147	T	0.041	0.10877	.	.	0.0297737177859	0.01360	0.30546399118235157	0.30459	0.118892422166	0.13393	0.219524219632	0.01283	T	5.27E-4	0.00201	T	-0.676591	0.00050	T	-0.741485	0.03829	T	0.00150702798559193	0.00015	T	0.374863	0.08927	T	0.048184883	0.08357	0.051021103	0.08128	0.048184883	0.08356	0.051021103	0.08128	-2.745	0.07689	T	.	.	0.071	0.03849	B	.	.	-0.381365	0.02283	0.238	0.66048443197865359	0.07946	0.07869	0.13860	N	AEFDBCI	0.091390	0.18511	N	-1.10575227081603	0.06540	0.3013409	-1.17609213568694	0.06311	0.3033808	0.997959651820398	0.36237	0.652421	0.48094	0	0.552637	0.17590	0	0.64067	0.45733	0	0.530356	0.10902	0	.	.	4.86	-2.6	0.05830	-1.340000	0.02756	-1.097000	0.06340	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1283:0.3697:0.252:0.25	1.641	0.02586	808	0.43318	Major facilitator superfamily associated 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	0.008056	0.000000	0.008152	0.011696	0.050000	0.017241	0.012195	0.003788	0.05	2842.43	37	chr17	8798496	.	C	T	2842.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.118;DP=564;ExcessHet=0;FS=0.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=-0.811;SOR=0.633	GT:AD:DP:GQ:PL	0/1:86,121:207:99:2854,0,1875	9	0	1	0
chr17	17254870	17254870	C	T	exonic	COPS3	.	nonsynonymous SNV	COPS3:NM_001316358:exon7:c.G697A:p.V233I,COPS3:NM_001316355:exon8:c.G838A:p.V280I,COPS3:NM_001316356:exon8:c.G811A:p.V271I,COPS3:NM_001316357:exon8:c.G697A:p.V233I,COPS3:NM_001199125:exon9:c.G952A:p.V318I,COPS3:NM_001316354:exon9:c.G622A:p.V208I,COPS3:NM_003653:exon9:c.G1012A:p.V338I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226	0.010611406545	.	.	8.321e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs750494846	3.479e-06	6.86e-06	2.774e-06	4.189e-06	3.045e-05	1.02e-06	7.4e-07	7.3e-07	2e-07	3.045e-05	0	0	0	0	0	2.75e-06	0	1.168e-05	6.682e-06	6.616e-06	0	1.373e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	1.0	0.00964	T	1.0	0.02934	T	0.555	0.38231	P	0.104	0.31021	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0	0.06538	N	0.99	0.41750	T	0.14	0.05405	N	0.658	0.66787	-1.0413	0.16921	T	0.043	0.18493	T	10	0.39259228	0.54999	T	0.010611	0.27345	T	0.226	0.52472	0.55	0.66576	0.388112687808	0.38423	0.36550856581754376	0.36464	0.517838923468	0.49650	0.827673077583	0.86207	D	0.103037	0.41132	T	-0.0933101	0.37530	T	-0.356324	0.38478	T	0.300139910140579	0.25010	T	0.849815	0.68393	T	0.12425656	0.29159	0.100020215	0.23900	0.12425656	0.29159	0.100020215	0.23900	-4.8	0.36093	T	.	.	0.136	0.37083	B	.;.;.	.;.;.	2.962806	0.39466	21.0	0.31215139023262028	0.01747	0.98215	0.80611	D	AEFBI	0.841784	0.75895	D	-0.0469438736707475	0.39739	2.348371	0.137398497855517	0.46477	2.893138	0.999999691738794	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.04	5.04	0.67293	7.489000	0.80266	7.620000	0.62269	0.575000	0.29119	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:1.0:0.0:0.0	17.730	0.88283	830	0.39242	.;Proteasome component (PCI) domain|Proteasome component (PCI) domain|Proteasome component (PCI) domain;Proteasome component (PCI) domain|Proteasome component (PCI) domain|Proteasome component (PCI) 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	.	.	.	.	.	.	.	.	0.1	985.14	37	chr17	17254870	.	C	T	985.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.748;DP=422;ExcessHet=0.2348;FS=2.587;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.12;ReadPosRankSum=-0.793;SOR=0.455	GT:AD:DP:GQ:PL	0/1:34,28:62:99:583,0,766	8	0	2	0
chr17	18264577	18264577	C	T	exonic	MIEF2	.	nonsynonymous SNV	MIEF2:NM_139162:exon4:c.C1178T:p.T393M,MIEF2:NM_148886:exon4:c.C1211T:p.T404M	.	.	.	.	.	.	.	.	.	.	.	3285663	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.080	0.0111345603975	.	.	8.435e-06	0	0	0	0	1.541e-05	0	0	6.5e-06	1	154602	rs771744645	3.908e-05	3.967e-05	3.684e-05	4.134e-05	4.586e-05	3.054e-05	2.789e-05	3.545e-05	3.204e-05	2.987e-05	0	0	0	0	0	4.586e-05	3.313e-05	3.478e-05	3.288e-05	3.284e-05	3.855e-05	2.693e-05	0.0002	1.262e-05	7.98e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0.0002	0	0	2.941e-05	0	0	0.002	0.72154	D	0.005	0.72224	D	0.95	0.53885	P	0.541	0.48869	P	0.105453	0.19658	N	0.593433	0.861036	0.81001	D	1.795	0.47270	L	3.03	0.08898	T	-2.59	0.55821	D	0.169	0.17966	-1.0606	0.11607	T	0.032	0.13592	T	10	0.25658974	0.43064	T	0.011135	0.28436	T	0.080	0.23350	.	.	0.373897652646	0.36997	0.14236539495478323	0.14159	0.886506435719	0.70018	0.427184402943	0.28824	T	0.139149	0.47303	T	-0.32333	0.06629	T	-0.533089	0.18978	T	0.809962153434753	0.47045	D	.	.	.	0.26746935	0.49818	0.29627717	0.55659	0.26746935	0.49818	0.29627717	0.55658	-6.386	0.49798	T	.	.	0.104	0.18746	B	.;.	.;.	2.692213	0.35142	19.82	0.99768815657061927	0.85750	0.92686	0.56299	D	AEFBCI	0.373703	0.45887	N	0.081145674574034	0.45585	2.81248	0.0349527252740804	0.41350	2.483	0.999999244402166	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.45	4.46	0.53567	3.979000	0.56596	2.246000	0.31650	-0.223000	0.07921	0.969000	0.34210	0.979000	0.30280	0.006000	0.07323	0.0:0.865:0.135:0.0	16.000	0.80085	258	0.89879	Mab-21 domain|Mab-21 domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1698.43	36	chr17	18264577	.	C	T	1698.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.396;DP=490;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.22;ReadPosRankSum=0.276;SOR=0.649	GT:AD:DP:GQ:PL	0/1:68,71:139:99:1710,0,1562	9	0	1	0
chr17	20232380	20232380	G	A	exonic	SPECC1	.	nonsynonymous SNV	SPECC1:NM_001033554:exon5:c.G2083A:p.V695M,SPECC1:NM_001033555:exon5:c.G2083A:p.V695M,SPECC1:NM_001243438:exon5:c.G2083A:p.V695M,SPECC1:NM_001033553:exon7:c.G2326A:p.V776M,SPECC1:NM_001243439:exon7:c.G2326A:p.V776M,SPECC1:NM_152904:exon7:c.G2326A:p.V776M	.	419	1060	41	2	0	45	0.0207852	.	.	.	2811143	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	0.00386095762704	0.0006	0.00139776	0.0022	0	0.0014	0	0	0.0017	0.0071	0.0073	0.0015653	242	154602	rs145743421	0.0012	0.0012	0.0009	0.0014	0.0192	0.0011	0.0011	0.0163	0.0152	0.0003	0.0008	0.0002	0	0.0001	0.0192	0.0007	0.0018	0.0067	0.0009	0.0009	0.0007	0.0010	0.0060	0.0007	0.0007	0.0043	0.0037	0.0001	0	0.0008	0	0	0	0.0170	0.0011	0.0024	0.0060	0.232	0.49117	T	0.073	0.43159	T	0.148	0.27908	B	0.058	0.26451	B	.	.	.	.	0.999962	0.18878	N	1.445	0.36358	L	0.87	0.46412	T	-0.13	0.12099	N	0.225	0.25622	-1.0323	0.19713	T	0.032	0.13942	T	9	0.0046572387	0.00097	T	0.003861	0.09055	T	0.057	0.16321	.	.	0.307966526162	0.30417	0.10910592302382832	0.10839	0.0941472671673	0.10632	0.285829782486	0.08318	T	0.01536	0.12902	T	-0.518326	0.00450	T	-0.513171	0.20990	T	0.0181061043531632	0.00533	T	0.755524	0.37862	T	0.023999518	0.01190	0.05838911	0.10780	0.023999518	0.01190	0.05838911	0.10779	-5.403	0.41407	T	.	.	0.100	0.22135	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.383666	0.17953	13.47	0.9110648896828234	0.20359	0.58695	0.30711	D	AEFBCI	0.106355	0.21223	N	-0.95251773179994	0.09636	0.4569352	-0.857123535416495	0.13117	0.6786628	0.107333532721448	0.16553	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	4.22	0.748	0.17525	2.643000	0.46271	5.093000	0.47370	-0.797000	0.03199	1.000000	0.71638	1.000000	0.68203	0.132000	0.19645	0.3204:0.0925:0.1737:0.4134	1.028	0.01437	580	0.69689	.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.011759	0.005263	0.023098	0.002959	0.000000	0.008621	0.015625	0.003906	0.05	2054.43	34	chr17	20232380	.	G	A	2054.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.861;DP=462;ExcessHet=0;FS=6.329;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=-0.196;SOR=0.359	GT:AD:DP:GQ:PL	0/1:66,78:144:99:2066,0,1794	9	0	1	0
chr17	31853003	31853003	T	A	exonic	COPRS	.	nonsynonymous SNV	COPRS:NM_001330176:exon3:c.A158T:p.D53V,COPRS:NM_018405:exon3:c.A194T:p.D65V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.0109373604764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.364	0.17372	T	0.899	0.49514	P	0.648	0.52381	P	0.791415	0.06714	N	1.110750	0.999997	0.08975	N	2.215	0.62545	M	0.87	0.46412	T	-4.24	0.76576	D	0.324	0.36464	-1.0201	0.23682	T	0.101	0.37518	T	10	0.14411488	0.27354	T	0.010937	0.28041	T	0.087	0.25287	0.142	0.04556	0.479604954264	0.47592	0.10759398737906725	0.10688	0.496920850416	0.48186	0.27172061801	0.06367	T	0.057327	0.31417	T	-0.11284	0.34300	T	-0.399863	0.33400	T	0.893730401992798	0.54500	D	0.80342	0.45053	T	0.26494578	0.49563	0.14005989	0.33397	0.26494578	0.49563	0.14005989	0.33397	-3.287	0.13570	T	.	.	0.150	0.34227	B	.;.;.	.;.;.	2.851268	0.37648	20.5	0.34771599078231885	0.02145	0.05710	0.11632	N	AEFBI	0.136088	0.25663	N	-0.481893941745676	0.22674	1.212383	-0.657181410243177	0.18035	0.9616963	1.43351657189065E-5	0.02871	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.45	0.827	0.17972	0.766000	0.26225	0.842000	0.22053	0.587000	0.30956	0.003000	0.16062	0.001000	0.17328	0.132000	0.19645	0.1884:0.219:0.0:0.5926	2.757	0.04970	920	0.19381	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	673.43	33	chr17	31853003	.	T	A	673.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.049;DP=365;ExcessHet=0;FS=1.04;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=-0.264;SOR=0.904	GT:AD:DP:GQ:PL	0/1:28,29:57:99:685,0,634	9	0	1	0
chr17	34626316	34626316	A	C	exonic	TMEM132E	.	nonsynonymous SNV	TMEM132E:NM_001304438:exon2:c.A257C:p.E86A	.	421	1083	17	1	0	19	0.00869565	.	.	.	1246008	Hearing_loss,_autosomal_recessive_99|not_provided|not_specified	MONDO:MONDO:0032776,MedGen:C4760579,OMIM:618481|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0156382407016	0.0008	0.000399361	0.0015	0.0001	0.0002	0	0	0.0012	0.0031	0.0051	0.0010026	155	154602	rs147874855	0.0008	0.0008	0.0006	0.0009	0.0052	0.0007	0.0007	0.0048	0.0046	2.989e-05	0.0002	0.0124	2.522e-05	0	0.0038	0.0002	0.0014	0.0052	0.0005	0.0005	0.0005	0.0006	0.0048	0.0004	0.0004	0.0033	0.0028	2.406e-05	0	0.0003	0.0101	0.0002	0	0	0.0002	0.0005	0.0048	0.803	0.03093	T	0.225	0.25514	T	0.939	0.52645	P	0.4	0.44481	B	0.000001	0.84330	D	0.053822	0.800889	0.34509	D	0.46	0.12951	N	2.72	0.11947	T	-1.89	0.44094	N	0.524	0.55366	-1.0354	0.18731	T	0.024	0.10194	T	10	0.007769197	0.00176	T	0.015638	0.36485	T	0.105	0.29889	.	.	0.101711395817	0.09552	0.39177012133355504	0.39092	0.993255338325	0.74148	0.557775259018	0.46954	T	0.007693	0.19136	T	-0.502461	0.00554	T	-0.493574	0.23017	T	0.0385352489959301	0.03427	T	0.89921	0.70434	D	0.28336868	0.51369	0.3393668	0.59703	0.3814324	0.59420	0.36686766	0.62008	-2.705	0.07346	T	.	.	0.158	0.39613	B	.;.	.;.	4.169213	0.62671	24.5	0.98468867638673319	0.41826	0.93341	0.57958	D	AEFDBHCI	0.631466	0.61243	D	0.105800735716619	0.46734	2.909205	0.198485047167477	0.49764	3.175798	0.999829391747232	0.43622	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.91	4.91	0.63897	4.374000	0.59312	11.036000	0.85117	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	13.729	0.62258	970	0.06235	Transmembrane protein TMEM132, N-terminal;Transmembrane protein TMEM132, N-terminal	.	.	.	.	.	Likely benign	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	1	0	0.004032	0.000000	0.006793	0.005848	0.050000	0.000000	0.000000	0.007576	0.1	1354.14	39	chr17	34626316	.	A	C	1354.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.418;DP=457;ExcessHet=0.2348;FS=0.612;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=2.56;SOR=0.608	GT:AD:DP:GQ:PL	0/1:49,37:86:99:788,0,1209	8	0	2	0
chr17	35741231	35741231	G	A	exonic	RASL10B	.	nonsynonymous SNV	RASL10B:NM_033315:exon4:c.G538A:p.A180T	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.124679405887	0.0003	0.000798722	0.0006	0	0.0004	0	0	0.0008	0	0.0009	0.0004786	74	154602	rs147094602	0.0003	0.0003	0.0003	0.0004	0.0068	0.0003	0.0003	0.0051	0.0045	0.0002	0.0007	0.0024	0	1.941e-05	0.0068	0.0002	0.0007	0.0009	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0003	4.808e-05	0	0.0007	0.0040	0.0002	0	0.0068	0.0003	0.0014	0.0008	.	.	.	0.477	0.12002	T	0.939	0.52645	P	0.16	0.34752	B	0.000015	0.62929	D	0.000000	0.761277	0.34041	D	0.75	0.19020	N	-2.13	0.86349	D	.	.	.	0.358	0.39962	-0.4750	0.69548	T	0.255	0.62485	T	10	0.024673253	0.00687	T	0.124679	0.80607	D	.	.	.	.	0.977120867506	0.97686	0.7982917059290335	0.79782	.	.	0.836708903313	0.87592	D	0.017295	0.14133	T	-0.193774	0.21707	T	-0.168948	0.57540	T	0.0571465865073061	0.06712	T	0.840916	0.51656	T	0.17744857	0.38712	0.21036054	0.45419	0.17744857	0.38711	0.21036054	0.45418	-3.618	0.18118	T	.	.	0.078	0.06849	B	.	.	4.310402	0.65883	24.9	0.99088182150852355	0.52149	0.97865	0.77711	D	AEFDBHCIJ	0.677059	0.64189	D	0.116022340172161	0.47209	2.949934	0.267899167531657	0.53674	3.535256	0.999999998161207	0.74766	0.789315	0.99827	0	0.563428	0.19063	0	0.768056	0.98339	0	0.620976	0.48614	0	.	.	5.39	4.36	0.51643	6.218000	0.72169	11.597000	0.93447	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0818:0.1576:0.7605:0.0	8.354	0.31482	632	0.64850	.	.	.	.	.	.	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	0.003027	0.000000	0.004076	0.005848	0.000000	0.008621	0.003067	0.003788	0.05	1791.43	41	chr17	35741231	.	G	A	1791.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.541;DP=477;ExcessHet=0;FS=2.414;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=1.53;SOR=0.962	GT:AD:DP:GQ:PL	0/1:65,70:135:99:1803,0,1599	9	0	1	0
chr17	35844353	35844353	C	T	exonic	TAF15	.	nonsynonymous SNV	TAF15:NM_003487:exon14:c.C1153T:p.R385C,TAF15:NM_139215:exon14:c.C1162T:p.R388C	Chondrosarcoma, extraskeletal myxoid	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.083714716858	.	.	0.0003	0	0	0	0.0015	0.0004	0	6.056e-05	0.0002264	35	154602	rs202180032	0.0001	0.0001	0.0001	0.0001	4.946e-05	0.0001	9.967e-05	3.89e-05	3.49e-05	0	0	0	0	0.0018	0	4.946e-05	0.0003	4.637e-05	7.882e-05	7.879e-05	7.706e-05	8.066e-05	2.939e-05	4.495e-05	3.511e-05	4.88e-06	1.83e-06	0	0	0	0	0	0.0009	0	2.939e-05	0	0	.	.	.	0.139	0.33666	T	0.999	0.90584	D	0.799	0.63994	P	.	.	.	.	0.999931	0.58761	D	0	0.06538	N	-3.36	0.94067	D	.	.	.	0.589	0.70702	-0.7879	0.55851	T	0.191	0.54359	T	8	0.110123634	0.20572	T	0.083715	0.74175	D	.	.	.	.	0.938711019541	0.93807	0.5883258589207646	0.58762	.	.	0.753074705601	0.74900	T	0.072067	0.34364	T	-0.0642251	0.42245	T	-0.0398883	0.67709	D	0.210913044835132	0.21001	T	0.958404	0.85375	D	0.10956164	0.25902	0.118368916	0.28572	0.10956164	0.25902	0.118368916	0.28571	-9.147	0.68638	D	.	.	0.498	0.69012	A	.;.;.	.;.;.	5.251863	0.88174	29.5	0.99930992202810442	0.99387	0.91687	0.54051	D	AEFBCI	0.736072	0.68169	D	0.398227578960902	0.61326	4.332176	0.39337451847631	0.61154	4.311831	0.00103652140789783	0.08148	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.09	4.13	0.47661	2.266000	0.42977	5.982000	0.52185	0.549000	0.26987	0.993000	0.37899	1.000000	0.68203	0.995000	0.73285	0.1794:0.7279:0.0:0.0927	6.486	0.21289	411	0.82069	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2616.43	39	chr17	35844353	.	C	T	2616.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.263;DP=533;ExcessHet=0;FS=0.518;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.53;SOR=0.735	GT:AD:DP:GQ:PL	0/1:91,109:200:99:2628,0,2040	9	0	1	0
chr17	36988684	36988684	C	A	exonic	AATF	.	nonsynonymous SNV	AATF:NM_012138:exon6:c.C1113A:p.H371Q	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.017376144376	.	0.00139776	0.0009	0	0.0004	0	0	0.0003	0	0.0055	0.0008085	125	154602	rs199883001	0.0005	0.0005	0.0003	0.0006	0.0056	0.0004	0.0004	0.0052	0.0050	2.988e-05	0.0008	0.0001	0	0	0.0035	8.094e-05	0.0006	0.0056	0.0003	0.0003	0.0002	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	7.226e-05	0	0.0007	0	0	0	0	0.0002	0	0.0054	.	.	.	0.056	0.46632	T	0.988	0.62325	D	0.91	0.64641	D	0.000000	0.84330	D	0.088085	0.999081	0.46032	D	1.81	0.47622	L	.	.	.	.	.	.	0.664	0.67304	-0.4110	0.71679	T	0.337	0.70395	T	9	0.012243539	0.00264	T	0.017376	0.39055	T	.	.	0.527	0.63263	0.354183961838	0.35022	0.5019051262207574	0.50112	.	.	0.773067593575	0.77883	T	0.402609	0.75959	T	-0.306654	0.08047	T	-0.211206	0.53579	T	0.309795916080475	0.25406	T	.	.	.	0.2406422	0.46969	0.30584943	0.56611	0.2406422	0.46969	0.30584943	0.56610	-7.821	0.59844	D	.	.	0.548	0.66709	A	.;.	.;.	1.115106	0.15006	11.51	0.99350320753387367	0.60574	0.39822	0.26299	N	AEFGBI	0.413944	0.48341	N	-0.170891886586975	0.34351	1.95959	-0.33063334483056	0.27114	1.50234	0.0332286029977403	0.14095	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	-2.35	0.06302	-1.392000	0.02629	-10.192000	0.00729	-0.960000	0.01985	0.004000	0.16614	0.000000	0.08366	0.951000	0.49849	0.0:0.6396:0.0:0.3604	14.452	0.66971	614	0.66605	AATF leucine zipper-containing 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	0.001515	0.000000	0.000000	0.002941	0.000000	0.000000	0.000000	0.011450	0.05	3679.43	33	chr17	36988684	.	C	A	3679.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.11;DP=630;ExcessHet=0;FS=1.344;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.95;ReadPosRankSum=-1.48;SOR=0.642	GT:AD:DP:GQ:PL	0/1:149,159:308:99:3691,0,3328	9	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	5690.04	86	chr17	37257713	.	C	T	5690.04	.	AC=10;AF=0.5;AN=20;BaseQRankSum=0.669;DP=834;ExcessHet=22.563;FS=449.684;InbreedingCoeff=-1;MLEAC=10;MLEAF=0.5;MQ=60;MQRankSum=0;QD=6.93;ReadPosRankSum=0.076;SOR=12.223	GT:AD:DP:GQ:PL	0/1:43,46:89:99:359,0,399	0	0	10	0
chr17	38330115	38330115	A	G	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon11:c.T3454C:p.S1152P	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	0	1505	15	2	0	19	0.0062727	.	.	.	374952	Congenital_stationary_night_blindness_1E|not_specified|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.202	.	0.0071	0.00339457	0.0067	0.0019	0.0070	0	0.0033	0.0092	0.0080	0.0032	0.0068175	1054	154602	rs149252987	0.0093	0.0092	0.0095	0.0090	0.0108	0.0091	0.0091	0.0107	0.0106	0.0016	0.0062	0.0047	0	0.0050	0.0044	0.0108	0.0080	0.0032	0.0068	0.0067	0.0075	0.0060	0.0102	0.0064	0.0063	0.0096	0.0093	0.0022	0.0637	0.0062	0.0049	0	0.0040	0.0068	0.0102	0.0071	0.0025	.	.	.	0.012	0.63918	D	.	.	.	.	.	.	0.001369	0.39242	N	0.117170	0.974477	0.25489	N	.	.	.	.	.	.	.	.	.	0.525	0.55453	-0.9590	0.39368	T	0.119	0.41626	T	10	0.005481094	0.00121	T	.	.	.	.	.	.	.	0.370608029945	0.36667	0.20258049630973457	0.20175	.	.	0.417994588614	0.27562	T	.	.	.	-0.324274	0.06553	T	-0.22625	0.52134	T	0.0142897565111187	0.00284	T	0.630437	0.24556	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.47338	B	.;.	.;.	3.573630	0.50344	22.9	0.99849158347106404	0.92838	0.28655	0.23613	N	AEFGBI	.	.	.	-0.0313918016067256	0.40438	2.40142	-0.0820273658342813	0.36133	2.098979	0.996471172121511	0.34770	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.27	4.18	0.48473	1.304000	0.33087	3.826000	0.39973	0.756000	0.94297	0.835000	0.30208	0.998000	0.33993	0.792000	0.37394	0.8425:0.0:0.0:0.1575	9.491	0.38121	125	0.94984	.;.	.	.	.	.	rs149252987	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	0	0	1	0	0.006042	0.005051	0.010870	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	9195.14	370	chr17	38330115	.	A	G	9195.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=4.13;DP=1883;ExcessHet=0.2348;FS=1.117;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.609;SOR=0.8	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,172:398:99:0|1:38330115_A_G:4309,0,6024:38330115	8	0	2	0
chr17	39829479	39829479	G	A	exonic	IKZF3	.	nonsynonymous SNV	IKZF3:NM_001257410:exon3:c.C71T:p.A24V,IKZF3:NM_001257411:exon3:c.C71T:p.A24V,IKZF3:NM_001257412:exon3:c.C71T:p.A24V,IKZF3:NM_001257413:exon3:c.C71T:p.A24V,IKZF3:NM_001257414:exon3:c.C71T:p.A24V,IKZF3:NM_012481:exon3:c.C71T:p.A24V,IKZF3:NM_183228:exon3:c.C71T:p.A24V,IKZF3:NM_183229:exon3:c.C71T:p.A24V,IKZF3:NM_183230:exon3:c.C71T:p.A24V,IKZF3:NM_183231:exon3:c.C71T:p.A24V,IKZF3:NM_183232:exon3:c.C71T:p.A24V	.	426	1085	10	1	0	12	0.00549954	.	.	.	2811304	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.017	0.00664395678553	0.0012	0.000199681	0.0008	0.0003	0.0005	0.0003	0.0006	0.0011	0.0011	0.0004	0.0008085	125	154602	rs61749874	0.0009	0.0010	0.0010	0.0009	0.0029	0.0009	0.0009	0.0019	0.0015	0.0003	0.0004	7.659e-05	0.0001	0.0005	0.0029	0.0011	0.0010	0.0003	0.0007	0.0007	0.0008	0.0006	0.0013	0.0006	0.0006	0.0011	0.0010	0.0002	0	0.0003	0	0.0002	0.0003	0	0.0013	0.0009	0.0002	0.332	0.24277	T	0.221	0.56192	T	0.001	0.12996	B	0.001	0.10090	B	0.449490	0.04806	N	1.427950	1	0.08975	N	0	0.06538	N	3.41	0.08986	T	-0.48	0.25551	N	0.052	0.15749	-0.9294	0.44227	T	0.011	0.04227	T	10	0.012108445	0.00261	T	0.006644	0.17529	T	0.017	0.02790	.	.	0.143184338766	0.13958	0.20533718198859963	0.20450	0.605635663499	0.55446	0.24314904213	0.03081	T	.	.	.	-0.730841	0.00024	T	-0.847206	0.00996	T	0.000450568437410543	0.00004	T	0.69513	0.30474	T	0.016803363	0.00223	0.03121239	0.01678	0.016803363	0.00223	0.03121239	0.01677	-3.753	0.22287	T	.	.	0.109	0.41156	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140840	0.03405	0.616	0.70288833417984531	0.09247	0.00597	0.02669	N	AEFBI	0.049205	0.08476	N	-1.387075287123	0.02758	0.1222555	-1.43514637736797	0.02907	0.1346316	0.159831065858563	0.17575	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-5.48	0.02388	-0.357000	0.07702	0.567000	0.19568	-0.773000	0.03420	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1444:0.0:0.333:0.5226	5.690	0.17095	662	0.61715	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0.003024	0.000000	0.001359	0.005848	0.000000	0.008621	0.006098	0.000000	0.15	2782.45	34	chr17	39829479	.	G	A	2782.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.06;DP=483;ExcessHet=0.7463;FS=0.48;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.646;SOR=0.736	GT:AD:DP:GQ:PL	0/1:48,35:83:99:756,0,1104	7	0	3	0
chr17	41424343	41424343	G	A	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.C181T:p.P61S	.	413	1092	16	1	0	18	0.00817439	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00819086165742	0.0013	0.000599042	0.0014	0.0003	0.0006	0	0.0002	0.0023	0.0033	0.0004	0.0013001	201	154602	rs140747125	0.0014	0.0014	0.0013	0.0014	0.0128	0.0013	0.0013	0.0105	0.0096	0.0007	0.0012	0.0039	0	0.0005	0.0128	0.0014	0.0017	0.0005	0.0012	0.0012	0.0015	0.0010	0.0018	0.0011	0.0010	0.0015	0.0014	0.0003	0	0.0013	0.0058	0	0.0007	0	0.0018	0.0019	0.0002	0.392	0.10766	T	0.26	0.23029	T	0.208	0.29916	B	0.029	0.21540	B	0.005220	0.32996	N	0.139318	1	0.08975	N	1.32	0.33002	L	-1.46	0.80983	T	-0.96	0.25551	N	0.164	0.17278	-0.9296	0.44197	T	0.205	0.56376	T	10	0.012026131	0.00260	T	0.008191	0.21700	T	0.086	0.25016	.	.	0.351830644314	0.34792	0.10540859306491256	0.10470	0.0749227178598	0.08402	0.399715781212	0.25029	T	0.011377	0.10158	T	-0.439226	0.01307	T	-0.409861	0.32240	T	0.00179616865786308	0.00018	T	.	.	.	0.023317413	0.01061	0.030227507	0.01453	0.023317413	0.01061	0.030227507	0.01453	-2.533	0.06011	T	.	.	0.097	0.16010	B	.	.	0.497711	0.08667	5.440	0.85855578787782683	0.16155	0.04340	0.09903	N	AEFBI	0.037890	0.05280	N	-0.951720951188039	0.09654	0.4578506	-0.960944658818885	0.10670	0.5388846	1.72231900435501E-5	0.02871	0.497415	0.19182	0	0.55458	0.17659	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.0	1.83	0.24279	0.023000	0.13424	-0.034000	0.12756	0.671000	0.69459	0.002000	0.15269	0.000000	0.08366	0.076000	0.17014	0.1088:0.1903:0.5327:0.1682	3.101	0.05943	209	0.91859	.	.	.	.	.	.	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	0.010070	0.000000	0.012228	0.017544	0.000000	0.025862	0.012195	0.003788	0.1	6465.14	179	chr17	41424343	.	G	A	6465.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.588;DP=2018;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.52;SOR=0.695	GT:AD:DP:GQ:PL	0/1:135,145:280:99:3444,0,3122	8	0	2	0
chr17	44036906	44036906	C	G	exonic	LSM12	.	stoploss	LSM12:NM_001369484:exon5:c.G692C:p.X231S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488204824	0	2.542e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.005	0.00034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.503312	0.00548	T	-0.960749	0.00230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680105	0.10487	7.202	0.47355120597097311	0.03865	0.05045	0.10832	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.111375921794828	0.16657	0.099367	0.02607	0	0.104858	0.03167	0	0.082826	0.02530	0	0.117559	0.03655	0	0.046875	0.06002	0.69	-0.732	0.10585	0.981000	0.29124	-0.400000	0.09416	-0.453000	0.05137	0.389000	0.26079	0.001000	0.17328	0.002000	0.04165	.	.	.	666	0.61362	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	58.86	4	chr17	44036906	.	C	G	58.86	.	AC=1;AF=0.056;AN=18;BaseQRankSum=-1.068;DP=52;ExcessHet=0;FS=0;InbreedingCoeff=-0.1325;MLEAC=1;MLEAF=0.056;MQ=55.58;MQRankSum=-1.981;QD=8.41;ReadPosRankSum=1.07;SOR=0.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:5,2:7:69:0|1:44036888_A_AAAGGC:69,0,201:44036888	8	0	1	1
chr17	44904739	44904739	C	T	exonic	FAM187A	.	nonsynonymous SNV	FAM187A:NM_001258400:exon1:c.C910T:p.R304C	.	422	1087	13	0	0	13	0.00594422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.0490911598561	.	0.00159744	0.0019	0	0	0	0	0.0002	0	0.0037	0.0002587	40	154602	rs139603380	0.0004	0.0004	0.0003	0.0005	0.0046	0.0004	0.0003	0.0042	0.0041	0.0002	0.0002	7.942e-05	0	4.154e-05	0.0019	0.0001	0.0006	0.0046	0.0003	0.0003	0.0003	0.0003	0.0044	0.0002	0.0002	0.0029	0.0024	0.0001	0	0.0001	0.0006	0	0	0	0.0002	0.0005	0.0044	0.015	0.52492	D	0.059	0.45961	T	0.476	0.36665	P	0.083	0.29179	B	0.122688	0.02739	N	1.573310	0.999895	0.19781	N	0.69	0.16971	N	-1.32	0.79761	T	-1.45	0.35597	N	0.234	0.26354	-0.7014	0.60371	T	0.281	0.65340	T	9	0.0036002994	0.00065	T	0.049091	0.63663	D	0.257	0.56827	.	.	0.568072681961	0.56471	0.7543271551056124	0.75379	.	.	0.230092704296	0.01974	T	0.010213	0.09245	T	-0.404001	0.02179	T	-0.352829	0.38881	T	0.0234004950594496	0.01071	T	0.785921	0.42389	T	0.068806075	0.15022	0.051765125	0.08396	0.068806075	0.15021	0.051765125	0.08396	-9.604	0.71504	D	.	.	0.146	0.32251	B	.	.	1.980709	0.25162	16.66	0.96593613898108799	0.30380	0.02036	0.06099	N	AEFGBI	.	.	.	-0.873402456321638	0.11479	0.5541187	-0.975331033880207	0.10341	0.5202135	0.99999794474973	0.74766	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.07	-5.82	0.02141	-0.222000	0.09195	-1.148000	0.06189	-0.950000	0.02036	0.000000	0.06391	0.000000	0.08366	0.540000	0.29938	0.6469:0.1182:0.1665:0.0684	7.528	0.26837	764	0.49969	Immunoglobulin-like 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	.	.	.	.	.	.	.	.	0.05	1577.43	34	chr17	44904739	.	C	T	1577.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.101;DP=972;ExcessHet=0;FS=0.587;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.56;ReadPosRankSum=-1.316;SOR=0.605	GT:AD:DP:GQ:PL	0/1:97,68:165:99:1589,0,2470	9	0	1	0
chr17	46555363	46555363	C	T	exonic	LRRC37A2	.	nonsynonymous SNV	LRRC37A2:NM_001006607:exon13:c.C4993T:p.H1665Y	.	450	1067	4	1	0	6	0.00280374	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00725468051546	0.0011	0.000798722	0.0015	0.0006	0.0027	0	0	0.0019	0.0048	0.0011	0.001229	190	154602	rs199645771	0.0014	0.0014	0.0013	0.0014	0.0042	0.0013	0.0013	0.0029	0.0025	0.0003	0.0031	0.0006	0	0.0005	0.0042	0.0014	0.0014	0.0009	0.0008	0.0010	0.0008	0.0009	0.0021	0.0007	0.0007	0.0015	0.0013	0.0003	0	0.0021	0.0015	0	0	0	0.0010	0.0026	0.0005	0.124	0.27426	T	0.035	0.52389	D	0.108	0.26116	B	0.029	0.21540	B	.	.	.	.	0.999999	0.08975	N	0.345	0.11182	N	0.36	0.57880	T	-0.05	0.07736	N	0.266	0.33904	-1.0594	0.11905	T	0.049	0.20711	T	9	0.007635802	0.00173	T	0.007255	0.19225	T	0.018	0.03083	.	.	0.0297737177859	0.01360	0.04695057931023808	0.04638	.	.	0.784309983253	0.79578	T	8.69E-4	0.00434	T	-0.549179	0.00295	T	-0.567182	0.15709	T	0.00201111159949478	0.00021	T	0.542646	0.18460	T	0.029213008	0.02380	0.04292633	0.05224	0.029213008	0.02380	0.04292633	0.05224	-3.155	0.11939	T	.	.	0.093	0.14385	B	.;.	.;.	0.274485	0.06519	3.000	0.47561332796159067	0.03898	0.00365	0.01864	N	AEFI	0.030804	0.03169	N	-1.21962863781778	0.04716	0.2134301	-1.3248052774783	0.04112	0.193259	1.8955469769915E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	2.05	-2.0	0.07024	0.211000	0.17268	-0.315000	0.10009	-2.074000	0.00407	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.0:0.4513:0.2308:0.3179	3.070	0.05851	458	0.78890	.;.	.	.	.	.	.	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	0.001935	0.000000	0.001412	0.000000	0.000000	0.000000	0.007874	0.000000	0.1	3486.14	39	chr17	46555363	.	C	T	3486.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.219;DP=1074;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=41.68;MQRankSum=-2.323;QD=5.27;ReadPosRankSum=-1.174;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,88:208:99:.:.:1827,0,2666:.	8	0	2	0
chr17	50529086	50529086	C	A	exonic	MYCBPAP	.	nonsynonymous SNV	MYCBPAP:NM_001366294:exon18:c.C2670A:p.D890E,MYCBPAP:NM_032133:exon18:c.C2622A:p.D874E	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00200125105352	.	0.000599042	0.0003	9.619e-05	0	0	0	1.5e-05	0	0.0019	0.0002329	36	154602	rs527652023	0.0001	0.0001	6.943e-05	0.0002	0.0013	0.0001	9.634e-05	0.0011	0.0011	0	0	0	0	1.872e-05	0.0003	3.957e-05	0.0001	0.0013	0.0001	0.0001	8.994e-05	0.0001	0.0019	6.506e-05	5.319e-05	0.0010	0.0007	0	0	6.535e-05	0	0	0	0	8.819e-05	0	0.0019	0.323	0.13436	T	0.331	0.18903	T	.	.	.	.	.	.	0.003827	0.34438	N	0.244360	0.999551	0.20991	N	.	.	.	2.01	0.21865	T	-0.79	0.23156	N	0.025	0.01203	-1.0489	0.14705	T	0.030	0.13023	T	10	0.00640586	0.00145	T	0.002001	0.03615	T	0.047	0.12962	0.122	0.02867	0.291694819147	0.28783	.	.	0.179901956931	0.20237	0.381356358528	0.22448	T	.	.	.	-0.678117	0.00049	T	-0.771472	0.02720	T	0.0168819587857182	0.00440	T	0.587441	0.21491	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32202	B	.;.	.;.	-0.161838	0.03290	0.567	0.76415033146919353	0.11459	0.01863	0.05749	N	AEFBI	0.057089	0.10607	N	-0.98732920065019	0.08873	0.4177567	-0.995652561712057	0.09882	0.4943052	0.0187888329176578	0.13096	0.549168	0.22868	0	0.610034	0.51514	0	0.577349	0.28860	0	0.616125	0.45549	0	.	.	5.26	-1.62	0.07926	-1.466000	0.02461	-3.128000	0.03037	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.008000	0.08271	0.4371:0.2315:0.1288:0.2026	1.050	0.01480	939	0.14249	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.1	1768.14	38	chr17	50529086	.	C	A	1768.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=442;ExcessHet=0.2348;FS=0.635;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.87;ReadPosRankSum=1.3;SOR=0.602	GT:AD:DP:GQ:PL	0/1:41,35:76:99:922,0,1118	8	0	2	0
chr17	50576281	50576281	G	A	exonic	CACNA1G	.	nonsynonymous SNV	CACNA1G:NM_001256324:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256325:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256326:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256327:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256328:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256329:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256330:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256331:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256332:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256333:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256334:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256359:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256360:exon8:c.G1879A:p.G627R,CACNA1G:NM_001256361:exon8:c.G1879A:p.G627R,CACNA1G:NM_018896:exon8:c.G1879A:p.G627R,CACNA1G:NM_198376:exon8:c.G1879A:p.G627R,CACNA1G:NM_198377:exon8:c.G1879A:p.G627R,CACNA1G:NM_198378:exon8:c.G1879A:p.G627R,CACNA1G:NM_198379:exon8:c.G1879A:p.G627R,CACNA1G:NM_198380:exon8:c.G1879A:p.G627R,CACNA1G:NM_198382:exon8:c.G1879A:p.G627R,CACNA1G:NM_198383:exon8:c.G1879A:p.G627R,CACNA1G:NM_198384:exon8:c.G1879A:p.G627R,CACNA1G:NM_198385:exon8:c.G1879A:p.G627R,CACNA1G:NM_198386:exon8:c.G1879A:p.G627R,CACNA1G:NM_198387:exon8:c.G1879A:p.G627R,CACNA1G:NM_198388:exon8:c.G1879A:p.G627R,CACNA1G:NM_198396:exon8:c.G1879A:p.G627R	Spinocerebellar ataxia 42, Autosomal dominant	0	1506	16	0	0	16	0.00528402	.	.	.	727275	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.299	0.0670740785396	0.0003	0.00119808	0.0028	0.0004	0.0008	0	0	0.0022	0.0088	0.0062	0.0011513	178	154602	rs200317339	0.0010	0.0011	0.0009	0.0012	0.0054	0.0010	0.0010	0.0049	0.0048	0.0002	0.0006	0.0046	0.0001	3.99e-05	0.0052	0.0007	0.0016	0.0054	0.0008	0.0008	0.0007	0.0009	0.0044	0.0006	0.0006	0.0029	0.0025	0.0002	0	0.0008	0.0043	0	0	0.0034	0.0008	0.0024	0.0044	0.186	0.24183	T	0.13	0.41573	T	0.003	0.11197	B	0.008	0.13708	B	0.349988	0.13831	N	0.713114	0.99899	0.21728	N	1.1	0.28011	L	-3.97	0.96716	D	-2.0	0.46146	N	0.168	0.21319	0.250	0.86741	D	0.832	0.94376	D	10	0.0069058537	0.00157	T	0.067074	0.70060	D	0.299	0.61955	0.204	0.11936	0.89126680826	0.89019	0.4557633473066184	0.45494	0.0849823423278	0.09603	0.511161386967	0.40384	T	0.027272	0.48379	T	-0.201931	0.20526	T	-0.060779	0.66277	T	0.0493582370862711	0.05388	T	0.880112	0.61284	D	0.12069945	0.28396	0.118940026	0.28709	0.10224915	0.24158	0.124039076	0.29901	-6.559	0.50739	T	0.2774585651588352	0.37220	0.268	0.52035	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.921333	0.38785	20.8	0.99775435489124153	0.86260	0.46059	0.27676	N	AEFDBCI	0.200748	0.32746	N	-0.226702404780759	0.32042	1.80286	-0.0293258361469758	0.38397	2.261579	0.72436983267059	0.22970	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.72	4.7	0.58776	2.959000	0.48846	5.811000	0.50008	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.1496:0.0:0.7166:0.1338	7.282	0.25494	940	0.13648	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.000000	0.008152	0.002941	0.000000	0.000000	0.003049	0.018939	0.1	1541.14	39	chr17	50576281	.	G	A	1541.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.61;DP=412;ExcessHet=0.2348;FS=0.694;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.29;ReadPosRankSum=0.363;SOR=0.826	GT:AD:DP:GQ:PL	0/1:32,38:70:99:970,0,669	8	0	2	0
chr17	56949754	56949754	G	A	exonic	COIL	.	nonsynonymous SNV	COIL:NM_004645:exon3:c.C1367T:p.T456I	.	428	1072	22	0	0	22	0.010157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00309073625034	0.0009	0.00159744	0.0017	9.623e-05	0.0003	0	0	0.0008	0.0033	0.0084	0.0013907	215	154602	rs138525201	0.0008	0.0008	0.0006	0.0011	0.0073	0.0008	0.0008	0.0068	0.0067	5.975e-05	0.0003	0.0061	2.519e-05	7.488e-05	0.0052	0.0003	0.0013	0.0073	0.0006	0.0006	0.0004	0.0008	0.0072	0.0005	0.0005	0.0054	0.0047	4.812e-05	0	0.0005	0.0060	0	0	0.0034	0.0004	0.0005	0.0072	0.244	0.17468	T	0.144	0.33109	T	0.002	0.09854	B	0.004	0.10090	B	0.340735	0.04186	N	1.342260	1	0.08975	N	1.01	0.25309	L	1.49	0.31470	T	-0.91	0.24460	N	0.177	0.19055	-1.0154	0.25207	T	0.066	0.27225	T	10	0.0030408204	0.00050	T	0.003091	0.06696	T	0.025	0.05312	.	.	0.130388298395	0.12655	0.12658673646120716	0.12584	0.069739081676	0.07810	0.391432583332	0.23871	T	0.208811	0.56885	T	-0.621246	0.00108	T	-0.659604	0.08293	T	0.00776491708800163	0.00091	T	0.729427	0.34485	T	0.022490758	0.00916	0.037110586	0.03294	0.022490758	0.00916	0.037110586	0.03293	-3.515	0.16642	T	.	.	0.070	0.03552	B	.	.	0.615085	0.09835	6.598	0.80305277189230984	0.13141	0.00675	0.02904	N	AEFDBI	0.017064	0.00423	N	-1.19880836299729	0.05018	0.2278032	-1.2848828491831	0.04634	0.2190473	0.0381773614275593	0.14334	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.52	-4.2	0.03562	0.226000	0.17557	1.664000	0.27916	-0.154000	0.11915	0.000000	0.06391	0.730000	0.26410	0.854000	0.40426	0.5804:0.2206:0.199:0.0	7.359	0.25910	32	0.98147	.	.	.	.	.	.	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	0.008056	0.005051	0.006793	0.011696	0.050000	0.008621	0.000000	0.015152	0.05	814.43	33	chr17	56949754	.	G	A	814.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.492;DP=410;ExcessHet=0;FS=0.807;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.36;ReadPosRankSum=-0.213;SOR=0.802	GT:AD:DP:GQ:PL	0/1:48,39:87:99:826,0,1108	9	0	1	0
chr17	58218626	58218626	T	C	exonic	MKS1	.	nonsynonymous SNV	MKS1:NM_001165927:exon2:c.A154G:p.T52A,MKS1:NM_001321269:exon2:c.A184G:p.T62A,MKS1:NM_001330397:exon2:c.A184G:p.T62A,MKS1:NM_017777:exon2:c.A184G:p.T62A	Bardet-Biedl syndrome 13, Autosomal recessive;Joubert syndrome 28, Autosomal recessive;Meckel syndrome 1, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	3407926	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.348	0.00623335102184	.	.	4.143e-05	0	8.654e-05	0	0	0	0	0.0002	3.23e-05	5	154602	rs758090787	3.371e-05	3.352e-05	9.592e-06	5.803e-05	0.0005	2.581e-05	2.325e-05	0.0004	0.0003	0	0	0	0	0	0.0003	0	4.989e-05	0.0005	4.596e-05	4.593e-05	0	9.4e-05	0.0012	2.108e-05	1.526e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0.0005	0.0012	0.812	0.03044	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.093499	0.02478	N	2.142410	1	0.18612	N	-0.205	0.04094	N	-0.26	0.67543	T	-0.51	0.16598	N	0.504	0.66529	-0.9591	0.39349	T	0.059	0.24908	T	10	0.028547794	0.00986	T	0.006233	0.16347	T	0.348	0.66956	0.133	0.03747	0.491112125781	0.48745	0.21900587012377654	0.21816	0.24617174184	0.27154	0.305601358414	0.11242	T	0.159719	0.50327	T	-0.263256	0.12522	T	-0.305407	0.44150	T	0.0081780009725031	0.00098	T	0.610139	0.23115	T	0.029850122	0.02548	0.027550627	0.00917	0.028888393	0.02295	0.029242925	0.01241	-2.708	0.07371	T	.	.	0.056	0.00730	B	.;.;.	.;.;.	1.012680	0.13919	10.48	0.8368087906706646	0.14860	0.02162	0.06348	N	AEFDBCI	0.043597	0.06911	N	-1.38774248899974	0.02752	0.1219736	-1.29483687137989	0.04500	0.212394	0.999995004286766	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.662677	0.59975	0	0.665054	0.64577	0	.	.	5.44	-4.34	0.03412	-0.564000	0.06027	-0.301000	0.10115	0.654000	0.53741	0.002000	0.15269	0.000000	0.08366	0.977000	0.56843	0.429:0.3428:0.0:0.2282	4.349	0.10581	572	0.70300	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1254.43	40	chr17	58218626	.	T	C	1254.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.764;DP=464;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.16;ReadPosRankSum=-1.276;SOR=0.581	GT:AD:DP:GQ:PL	0/1:75,62:137:99:1266,0,1681	9	0	1	0
chr17	59737489	59737489	A	C	exonic	VMP1	.	nonsynonymous SNV	VMP1:NM_001329394:exon4:c.A249C:p.L83F,VMP1:NM_001329395:exon4:c.A249C:p.L83F,VMP1:NM_001329396:exon4:c.A249C:p.L83F,VMP1:NM_001329397:exon4:c.A249C:p.L83F,VMP1:NM_030938:exon4:c.A249C:p.L83F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.0141066231821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.191	0.36101	T	0.006	0.13644	B	0.014	0.16862	B	0.000799	0.41772	N	0.212141	0.999944	0.81001	D	1.855	0.49169	L	0.04	0.62051	T	-1.78	0.42001	N	0.357	0.39861	-1.0221	0.23031	T	0.141	0.46091	T	10	0.14252281	0.27069	T	0.014107	0.34004	T	0.049	0.13647	0.353	0.35246	0.0675242888579	0.06100	0.5712040838939131	0.57048	0.91776774061	0.71314	0.544338107109	0.45059	T	0.089455	0.38377	T	-0.0827499	0.39266	T	-0.356641	0.38440	T	0.287641048431396	0.24491	T	0.718628	0.33863	T	0.062745705	0.13140	0.10852297	0.26143	0.062745705	0.13139	0.10852297	0.26142	-5.324	0.40180	T	.	.	0.076	0.19958	B	.;.;.;.	.;.;.;.	2.380794	0.30564	18.47	0.9833404357562634	0.40368	0.85375	0.44501	D	AEBI	0.569707	0.57438	D	-0.333592567050439	0.27880	1.533198	-0.17981141623968	0.32280	1.834908	0.128581799000209	0.17043	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.83	2.31	0.27816	2.188000	0.42243	3.622000	0.39288	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7012:0.1125:0.1862:0.0	7.118	0.24604	542	0.72843	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	277.63	33	chr17	59737489	.	A	C	277.63	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.301;DP=679;ExcessHet=1.5895;FS=224.077;InbreedingCoeff=-0.2515;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=0.65;ReadPosRankSum=0.862;SOR=9.94	GT:AD:DP:GQ:PL	0/1:82,35:117:99:107,0,1090	6	0	4	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	260.82	69	chr17	61968034	.	C	G	260.82	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-1.413;DP=565;ExcessHet=4.5998;FS=188.81;InbreedingCoeff=-0.5387;MLEAC=7;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.49;SOR=10.074	GT:AD:DP:GQ:PL	0/1:40,23:63:54:54,0,416	2	0	6	2
chr17	63545170	63545170	C	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon12:c.C2489A:p.A830D,KCNH6:NM_001278920:exon12:c.C2120A:p.A707D,KCNH6:NM_030779:exon13:c.C2597A:p.A866D,KCNH6:NM_173092:exon13:c.C2330A:p.A777D	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.28902848351	.	0.00159744	0.0014	0.0002	0.0010	0	0	0.0004	0.0022	0.0080	0.0011837	183	154602	rs146648647	0.0008	0.0008	0.0005	0.0011	0.0093	0.0008	0.0008	0.0087	0.0085	2.987e-05	0.0006	0	2.519e-05	1.885e-05	0.0045	0.0002	0.0010	0.0093	0.0005	0.0005	0.0005	0.0005	0.0072	0.0004	0.0004	0.0054	0.0047	7.215e-05	0	0.0004	0	0	0	0	0.0004	0.0009	0.0072	0.01	0.56456	D	0.175	0.29945	T	0.277	0.34388	B	0.143	0.33763	B	0.013364	0.28863	N	0.328689	0.999433	0.21230	N	1.355	0.33814	L	-5.94	0.99456	D	-1.05	0.27463	N	0.257	0.29313	0.734	0.93600	D	0.915	0.97170	D	10	0.007865697	0.00179	T	0.289028	0.90498	D	0.367	0.68670	.	.	0.643961431749	0.64101	0.39785121735806944	0.39700	0.321312189581	0.34332	0.299728453159	0.10360	T	0.10268	0.41063	T	-0.245589	0.14645	T	-0.119434	0.61850	T	0.0157242416570985	0.00364	T	0.737426	0.35417	T	0.12717558	0.29768	0.13672428	0.32699	0.12717558	0.29768	0.13672428	0.32698	-4.885	0.40081	T	.	.	0.114	0.22680	B	.;.;.;.	.;.;.;.	1.081331	0.14642	11.20	0.90174368681605954	0.19450	0.91553	0.53771	D	AEFBI	0.355748	0.44737	N	-0.713888070430966	0.15630	0.7894164	-0.707119628019298	0.16783	0.8894742	0.808120538033174	0.24307	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	5.55	2.36	0.28258	1.859000	0.39058	0.512000	0.19089	-0.182000	0.10109	0.721000	0.28831	0.048000	0.21764	0.009000	0.08673	0.0:0.7008:0.1389:0.1602	7.214	0.25127	875	0.30485	.;.;.;.	.	.	.	.	.	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	0.003021	0.000000	0.000000	0.002924	0.000000	0.008621	0.003049	0.007576	0.05	957.43	34	chr17	63545170	.	C	A	957.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.246;DP=388;ExcessHet=0;FS=4.729;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-1.849;SOR=0.899	GT:AD:DP:GQ:PL	0/1:29,40:69:99:969,0,639	9	0	1	0
chr17	63947952	63947952	C	A	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon17:c.G3256T:p.A1086S	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928	0.482694887628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.99	0.78936	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	3.055	0.86842	M	-5.32	0.98988	D	-2.94	0.61435	D	0.827	0.82257	1.062	0.98383	D	0.979	0.99342	D	10	0.9496289	0.94295	D	0.482695	0.94868	D	0.928	0.98267	0.787	0.90993	0.945478854695	0.94491	0.8086449762040656	0.80819	0.853254466551	0.68643	0.639679074287	0.58518	T	0.957345	0.99426	D	0.363208	0.87496	D	0.283947	0.87334	D	0.995286466825878	0.87152	D	0.929307	0.73951	D	0.8775473	0.89467	0.77428585	0.86681	0.8775473	0.89468	0.77428585	0.86682	-6.717	0.51938	T	0.6003124781764361	0.66732	0.611	0.69341	P	.	.	4.593832	0.72687	25.9	0.99802095972172433	0.88639	0.97957	0.78421	D	AEFDBI	0.943394	0.94919	D	0.865178745699651	0.89954	10.18942	0.775750771320525	0.88062	9.443284	0.999999997095098	0.74766	0.700653	0.57754	0	0.547309	0.14657	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.47	4.47	0.53770	7.844000	0.85149	7.574000	0.60786	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	16.660	0.85096	820	0.40914	Ion transport domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	81.43	38	chr17	63947952	.	C	A	81.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.524;DP=492;ExcessHet=0;FS=63.978;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.36;SOR=6.183	GT:AD:DP:GQ:PL	0/1:124,21:145:93:93,0,4739	9	0	1	0
chr17	74372572	74372572	C	T	exonic	GPR142	.	nonsynonymous SNV	GPR142:NM_001331076:exon4:c.C1097T:p.P366L,GPR142:NM_001331077:exon4:c.C1097T:p.P366L,GPR142:NM_181790:exon4:c.C1361T:p.P454L	.	431	1072	18	1	0	20	0.00924214	.	.	.	2808330	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.041	0.0173496799223	0.0037	0.00159744	0.0043	0.0018	0.0037	0.0001	0.0008	0.0064	0.0062	0.0017	0.0039456	610	154602	rs140397567	0.0050	0.0049	0.0049	0.0050	0.0057	0.0049	0.0048	0.0055	0.0055	0.0012	0.0045	0.0051	0.0001	0.0010	0.0042	0.0057	0.0054	0.0017	0.0040	0.0040	0.0043	0.0037	0.0057	0.0038	0.0037	0.0053	0.0051	0.0018	0.0307	0.0052	0.0058	0.0002	0.0005	0.0034	0.0057	0.0043	0.0014	0.396	0.10623	T	0.288	0.21144	T	0.005	0.12996	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.6	0.40776	L	-0.26	0.67187	T	-0.53	0.16393	N	0.081	0.05670	-1.0246	0.22214	T	0.099	0.36957	T	9	0.0063492656	0.00143	T	0.01735	0.39013	T	0.041	0.10877	.	.	0.455909487837	0.45213	0.18651384417242733	0.18569	0.117002942572	0.13191	0.265333026648	0.05543	T	0.006776	0.06208	T	-0.565623	0.00235	T	-0.581529	0.14409	T	0.00308196130042475	0.00032	T	0.447055	0.12542	T	0.013799263	0.00070	0.031015558	0.01634	0.013799263	0.00070	0.031015558	0.01634	-3.986	0.23594	T	.	.	0.065	0.01934	B	.	.	-0.182750	0.03181	0.521	0.40642597587774743	0.02881	0.00903	0.03537	N	AEFBI	0.054018	0.09785	N	-1.35594138810062	0.03064	0.1362827	-1.40841692912964	0.03167	0.1472094	0.0371806132958303	0.14283	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	-2.64	0.05757	-0.539000	0.06202	-2.401000	0.03800	-1.781000	0.00652	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3702:0.0:0.6298	9.998	0.41081	787	0.46738	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.003021	0.005051	0.005435	0.000000	0.000000	0.000000	0.003049	0.003788	0.1	1288.14	43	chr17	74372572	.	C	T	1288.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.07;DP=418;ExcessHet=0.2348;FS=6.662;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=1.05;SOR=1.333	GT:AD:DP:GQ:PL	0/1:26,27:53:99:717,0,605	8	0	2	0
chr17	75522195	75522195	G	A	exonic	TSEN54	.	nonsynonymous SNV	TSEN54:NM_207346:exon8:c.G1114A:p.V372M	Pontocerebellar hypoplasia type 2A, Autosomal recessive;Pontocerebellar hypoplasia type 4, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	169410	Olivopontocerebellar_hypoplasia|Inborn_genetic_diseases|Pontocerebellar_hypoplasia_type_4|Pontocerebellar_hypoplasia_type_2A|Pontocerebellar_hypoplasia_type_5|Pontoneocerebellar_hypoplasia|not_provided	Human_Phenotype_Ontology:HP:0006955,Human_Phenotype_Ontology:HP:0007168,MedGen:C1859341|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009166,MedGen:C1856974,OMIM:225753,Orphanet:166063|MONDO:MONDO:0010190,MedGen:C1848526,OMIM:277470,Orphanet:2524|MONDO:MONDO:0012438,MedGen:C1857762,OMIM:610204,Orphanet:166068|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.274	0.118195196703	0.0005	.	0.0008	0.0004	0	0	0	0.0010	0	0.0008	0.0003299	51	154602	rs200434678	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0005	0.0007	0.0005	0.0003	0.0003	0.0002	5.582e-05	0.0004	0.0014	0.0006	0.0007	0.0006	0.0005	0.0005	0.0005	0.0004	0.0007	0.0004	0.0003	0.0006	0.0005	4.811e-05	0	0.0002	0.0006	0.0002	0.0003	0	0.0007	0.0019	0.0006	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	-0.07	0.63738	T	-1.59	0.38345	N	0.752	0.75101	-0.0503	0.81200	T	0.458	0.78935	T	10	0.46890467	0.59741	T	0.118195	0.79817	D	0.274	0.59007	.	.	0.759759855957	0.75757	0.5178459661872079	0.51707	0.916772197932	0.71267	0.510220706463	0.40253	T	0.095302	0.39593	T	-0.13534	0.30636	T	-0.0502145	0.67008	D	0.0725286365497002	0.09002	T	0.90031	0.65351	D	0.37145868	0.58692	0.37359306	0.62543	0.37145868	0.58693	0.37359306	0.62542	-5.083	0.37727	T	0.5609203514789229	0.62870	0.703	0.73074	P	.	.	4.254328	0.64600	24.7	0.96142493142276453	0.28841	0.92706	0.56347	D	AEFBCI	0.747140	0.68929	D	0.756492624111109	0.83330	7.988636	0.705659080762641	0.82810	7.859844	0.999999999995956	0.74766	0.718356	0.82227	0	0.643519	0.57511	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	7.089000	0.76571	11.800000	0.96626	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.722000	0.34836	0.0:0.0:1.0:0.0	19.072	0.93128	976	0.04745	.	.	.	.	.	.	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	0.005160	0.010526	0.004190	0.005882	0.000000	0.000000	0.009740	0.000000	0.15	4394.43	87	chr17	75522195	.	G	A	4394.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-0.014;DP=854;ExcessHet=0;FS=2.325;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=27.29;ReadPosRankSum=1.57;SOR=0.491	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,73:73:99:1|1:75522195_G_A:3204,220,0:75522195	8	1	1	0
chr17	75753902	75753965	CCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGC	-	exonic	ITGB4	.	frameshift deletion	ITGB4:NM_000213:exon33:c.4246_4309del:p.D1418Efs*5	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	42.47	17	chr17	75753901	.	GCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGC	G	42.47	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.812;DP=194;ExcessHet=0;FS=0;InbreedingCoeff=-0.0589;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=3.54;ReadPosRankSum=2.2;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,391	9	0	1	0
chr17	75878277	75878277	G	C	exonic	TRIM47	.	nonsynonymous SNV	TRIM47:NM_033452:exon1:c.C272G:p.P91R	.	411	1098	12	1	0	14	0.00633484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	.	.	0.00698882	0.0556	0.5	.	.	.	0	.	0	0.0004398	68	154602	rs577782968	0.0012	0.0010	0.0012	0.0012	0.0171	0.0011	0.0011	0.0157	0.0151	0.0171	0.0034	0.0110	0	8.509e-05	0.0162	0.0005	0.0038	0.0011	0.0057	0.0057	0.0063	0.0051	0.0167	0.0054	0.0053	0.0157	0.0153	0.0167	0.0011	0.0037	0.0127	0	9.526e-05	0.0342	0.0008	0.0038	0.0004	0.136	0.26085	T	0.034	0.52727	D	0.93	0.51791	P	0.578	0.50118	P	0.050333	0.23081	U	0.219521	1	0.08975	N	1.74	0.45129	L	0.93	0.44065	T	0.48	0.03041	N	0.258	0.29197	-0.8804	0.49730	T	0.092	0.35092	T	10	0.0017648935	0.00023	T	.	.	.	0.054	0.15330	.	.	0.503063991398	0.49945	.	.	2.12493175433	0.95057	0.833705663681	0.87130	D	0.022488	0.17329	T	-0.524503	0.00414	T	-0.511908	0.21119	T	0.0423051338128606	0.04110	T	0.322368	0.06563	T	0.049451187	0.08783	0.1390573	0.33192	0.049451187	0.08782	0.1390573	0.33191	-6.204	0.47955	T	.	.	0.089	0.12228	B	.	.	2.120363	0.26987	17.31	0.98909838452120091	0.48345	0.77563	0.38150	D	AEFDBHCI	0.246767	0.36746	N	-0.066640446153496	0.38862	2.282715	-0.170089722099639	0.32642	1.859201	0.99999962251974	0.74766	0.455138	0.09556	0	0.552344	0.17405	0	0.606884	0.38211	0	0.372554	0.06265	0	.	.	2.37	2.37	0.28337	1.262000	0.32594	0.658000	0.20477	0.484000	0.22197	0.009000	0.18154	0.000000	0.08366	0.047000	0.14932	0.0:0.0:1.0:0.0	8.343	0.31418	883	0.28872	.	.	.	.	.	.	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	0.007991	0.007042	0.000000	0.028037	0.000000	0.000000	0.000000	0.000000	0.1	353.14	35	chr17	75878277	.	G	C	353.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.524;DP=267;ExcessHet=0.2348;FS=3.568;InbreedingCoeff=-0.111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=1.11;SOR=1.536	GT:AD:DP:GQ:PL	0/1:2,4:6:41:114,0,41	8	0	2	0
chr17	75921991	75921991	C	T	exonic	FBF1	.	nonsynonymous SNV	FBF1:NM_001319193:exon14:c.G1480A:p.G494R	.	404	1104	13	1	0	15	0.00674764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0008	0.00159744	0.0030	0.0040	0.0073	0	0	0.0040	0.0126	0.0018	0.0006856	106	154602	rs61744136	0.0011	0.0011	0.0010	0.0012	0.0260	0.0011	0.0010	0.0226	0.0213	0.0031	0.0028	0.0115	2.798e-05	6.08e-05	0.0260	0.0006	0.0028	0.0016	0.0015	0.0015	0.0017	0.0013	0.0022	0.0013	0.0013	0.0016	0.0015	0.0019	0.0011	0.0022	0.0124	0	9.418e-05	0.0340	0.0008	0.0014	0.0006	.	.	.	0.367	0.16668	T	0.127	0.26966	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.73	0.44655	L	2.29	0.17113	T	.	.	.	0.075	0.04913	-1.0274	0.21299	T	0.038	0.16203	T	9	0.005048305	0.00109	T	.	.	.	.	.	0.225	0.14960	0.151104730317	0.14643	0.1328563028633864	0.13209	.	.	0.311471223831	0.12129	T	0.024036	0.18239	T	-0.590542	0.00166	T	-0.625352	0.10769	T	0.00954904533907244	0.00124	T	0.716128	0.32863	T	0.042809766	0.06560	0.08133094	0.18473	0.042809766	0.06559	0.08133094	0.18472	-4.674	0.33149	T	.	.	0.109	0.24666	B	.;.;.	.;.;.	1.000004	0.13782	10.33	0.92157115828463076	0.21518	0.07827	0.13821	N	AEFBI	0.035051	0.04446	N	-0.634884174838293	0.17904	0.9252401	-0.656243889262236	0.18059	0.9630712	0.201818496286435	0.18132	0.646311	0.45356	0	0.670034	0.63936	0	0.645312	0.48771	0	0.655142	0.61905	0	.	.	5.6	4.4	0.52402	0.214000	0.17331	2.441000	0.32772	0.599000	0.40250	0.000000	0.06391	0.026000	0.21063	0.008000	0.08271	0.0:0.8541:0.0:0.1459	8.111	0.30072	823	0.40596	.;.;.	.	.	.	.	.	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	0.013189	0.005051	0.019366	0.031646	0.000000	0.000000	0.010204	0.004808	0.1	3053.14	33	chr17	75921991	.	C	T	3053.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.036;DP=561;ExcessHet=0.2348;FS=3.325;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=1.65;SOR=0.787	GT:AD:DP:GQ:PL	0/1:84,74:158:99:1709,0,1993	8	0	2	0
chr17	75978994	75978994	G	A	exonic	ACOX1	.	nonsynonymous SNV	ACOX1:NM_004035:exon1:c.C80T:p.P27L,ACOX1:NM_007292:exon1:c.C80T:p.P27L	Peroxisomal acyl-CoA oxidase deficiency, Autosomal recessive	0	1502	18	2	0	22	0.00727032	.	.	.	237439	not_provided|Acyl-CoA_oxidase_deficiency	MedGen:C3661900|MONDO:MONDO:0009919,MedGen:C1849678,OMIM:264470,Orphanet:2971	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.114	.	0.0072	0.00559105	0.0033	0.0183	0.0051	0	0.0002	0.0018	0.0077	0.0014	0.0030918	478	154602	rs145082938	0.0016	0.0016	0.0016	0.0016	0.0285	0.0016	0.0015	0.0249	0.0235	0.0183	0.0042	0.0114	2.519e-05	7.907e-05	0.0285	0.0006	0.0040	0.0016	0.0063	0.0063	0.0066	0.0060	0.0186	0.0060	0.0059	0.0175	0.0171	0.0186	0.0011	0.0041	0.0127	0	9.409e-05	0.0340	0.0009	0.0057	0.0006	0.09	0.31987	T	0.202	0.28300	T	0.0	0.07471	B	0.002	0.06944	B	0.002795	0.35935	N	0.296932	0.999699	0.81001	D	1.95	0.52479	M	-0.13	0.64818	T	-3.52	0.68412	D	0.168	0.19459	-0.8747	0.50173	T	0.113	0.40377	T	10	0.00561586	0.00125	T	.	.	.	0.114	0.32008	.	.	0.697566865013	0.69495	0.6616722337909623	0.66104	0.659582380596	0.58814	0.479379892349	0.35971	T	0.467308	0.80169	T	-0.463065	0.00941	T	-0.423657	0.30658	T	0.0533136793918528	0.06073	T	0.90211	0.65873	D	0.19369115	0.41090	0.26735798	0.52592	0.20065153	0.42047	0.28335834	0.54328	-3.908	0.28008	T	.	.	0.09	0.17488	B	.;.;.	.;.;.	3.891890	0.56638	23.8	0.99720487541705172	0.81984	0.93706	0.58959	D	ALL	0.542320	0.55811	D	0.0254650949938461	0.43015	2.602847	0.156769912805385	0.47500	2.979432	0.999999999857169	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.74	3.75	0.42236	4.244000	0.58522	6.122000	0.53799	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.151:0.0:0.849:0.0	10.865	0.46054	726	0.54788	.;Acyl-coenzyme A oxidase, N-terminal;Acyl-coenzyme A oxidase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.019153	0.020202	0.020380	0.052632	0.000000	0.025862	0.006135	0.003788	0.1	1694.14	36	chr17	75978994	.	G	A	1694.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.032;DP=437;ExcessHet=0.2348;FS=0.611;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.979;SOR=0.765	GT:AD:DP:GQ:PL	0/1:42,39:81:99:841,0,917	8	0	2	0
chr17	76391157	76391157	G	T	exonic	UBE2O	.	nonsynonymous SNV	UBE2O:NM_022066:exon18:c.C3665A:p.T1222N	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.0169220810635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.106e-06	4.104e-06	4.085e-06	4.127e-06	2.239e-05	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	2.239e-05	0	0	0	0	4.497e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.007	0.69154	D	0.021	0.18474	B	0.005	0.11217	B	0.674387	0.10313	N	0.821717	1	0.08975	N	0	0.06538	N	-0.7	0.72785	T	-0.16	0.09460	N	0.042	0.01498	-0.9628	0.38645	T	0.147	0.47255	T	10	0.04604888	0.03747	T	0.016922	0.38399	T	0.205	0.49236	0.094	0.01195	0.395439683604	0.39153	0.10269441856943574	0.10199	0.696890761527	0.60867	0.393743395805	0.24195	T	0.022219	0.17168	T	-0.180251	0.23697	T	-0.496694	0.22690	T	0.0547132359415791	0.06309	T	0.715628	0.32820	T	0.09498702	0.22345	0.07486051	0.16422	0.09498702	0.22344	0.07486051	0.16422	-4.711	0.33537	T	.	.	0.080	0.07985	B	.	.	1.782627	0.22667	15.71	0.96197786419158016	0.29013	0.78238	0.38570	D	AEFDBI	0.259074	0.37749	N	-0.724099265369016	0.15346	0.7725539	-0.662466814718121	0.17903	0.9539985	0.43406380278765	0.20397	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.636168	0.56350	0	.	.	4.59	1.45	0.21708	2.298000	0.43262	.	.	0.674000	0.70861	0.447000	0.26542	0.952000	0.29052	0.662000	0.33024	0.1607:0.2949:0.5445:0.0	6.057	0.19042	828	0.39726	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	898.43	36	chr17	76391157	.	G	T	898.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.106;DP=421;ExcessHet=0;FS=1.76;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.09;ReadPosRankSum=0.834;SOR=0.514	GT:AD:DP:GQ:PL	0/1:51,38:89:99:910,0,1416	9	0	1	0
chr17	77209465	77209465	G	T	exonic	SEC14L1	.	nonsynonymous SNV	SEC14L1:NM_001144001:exon12:c.G1498T:p.A500S,SEC14L1:NM_001039573:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143998:exon14:c.G1600T:p.A534S,SEC14L1:NM_001143999:exon14:c.G1600T:p.A534S,SEC14L1:NM_003003:exon14:c.G1600T:p.A534S,SEC14L1:NM_001204408:exon16:c.G1600T:p.A534S,SEC14L1:NM_001204410:exon16:c.G1600T:p.A534S	.	431	1066	25	0	0	25	0.0115902	.	.	.	715736	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.080	.	0.0035	0.00139776	0.0047	0.0004	0.0011	0	0.0031	0.0054	0.0045	0.0100	0.0044243	684	154602	rs143320926	0.0042	0.0042	0.0040	0.0043	0.0106	0.0041	0.0040	0.0100	0.0098	0.0008	0.0010	0.0026	0	0.0039	0.0021	0.0041	0.0036	0.0106	0.0030	0.0030	0.0028	0.0032	0.0085	0.0028	0.0027	0.0064	0.0057	0.0007	0	0.0017	0.0023	0	0.0041	0	0.0045	0.0028	0.0085	0.561	0.06691	T	0.531	0.24621	T	0.036	0.20732	B	0.02	0.19048	B	0.000000	0.84330	D	0.049517	0.999973	0.53665	D	2.6	0.76081	M	1.09	0.39223	T	-0.49	0.15578	N	0.392	0.46368	-1.0772	0.07901	T	0.058	0.24167	T	10	0.008954972	0.00203	T	.	.	.	0.080	0.23350	.	.	0.49530441419	0.49164	0.36858062195665303	0.36772	0.539670562832	0.51191	0.556917905807	0.46832	T	0.02022	0.15960	T	-0.393963	0.02536	T	-0.330716	0.41388	T	0.0287421153837563	0.01798	T	0.790321	0.45571	T	0.15130615	0.34402	0.117334686	0.28325	0.15130615	0.34402	0.117334686	0.28324	-6.096	0.47076	T	.	.	0.073	0.15296	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.138675	0.42441	21.5	0.8701665812032916	0.16930	0.90976	0.52619	D	AEFDBHCI	0.779930	0.71198	D	-0.160721858344382	0.34779	1.989405	0.0170941891234989	0.40509	2.418674	0.999999992349364	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.723133	0.82415	0	0.723	0.93126	0	.	.	5.48	5.48	0.80675	6.196000	0.72018	9.788000	0.81631	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.140000	0.19946	0.0:0.0:0.8421:0.1579	13.318	0.59857	988	0.01987	.;GOLD domain;GOLD domain;GOLD domain;.;.;.;GOLD 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	0	0	1	0	0.003021	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.015152	0.1	2283.14	34	chr17	77209465	.	G	T	2283.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.215;DP=488;ExcessHet=0.2348;FS=8.046;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.59;SOR=0.351	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1078,0,1251	8	0	2	0
chr17	78537337	78537337	G	T	exonic	DNAH17	.	nonsynonymous SNV	DNAH17:NM_173628:exon19:c.C2821A:p.L941I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0135303030759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.384e-06	1.368e-06	2.748e-06	0	2.571e-05	2.3e-07	9e-08	.	.	0	0	0	2.571e-05	0	0	9.055e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.970774	0.25687	N	2.875	0.83380	M	1.8	0.25678	T	-1.5	0.36586	N	0.379	0.42345	-1.0419	0.16741	T	0.083	0.32499	T	7	0.21330184	0.37817	T	0.01353	0.33003	T	0.062	0.17934	0.631	0.76699	0.0666544352282	0.05500	0.2593881892943262	0.25852	.	.	0.396355867386	0.24562	T	0.012182	0.10755	T	-0.177277	0.24142	T	-0.492423	0.23137	T	0.159496417778093	0.17834	T	0.718928	0.33194	T	0.038603242	0.05173	0.098648034	0.23525	0.038603242	0.05172	0.098648034	0.23525	-3.978	0.23473	T	0.4811075487487532	0.55975	0.101	0.17573	B	.;.	.;.	2.125318	0.27058	17.33	0.97042176451283546	0.32113	0.67293	0.33380	D	AEFDGBI	0.397685	0.47366	N	-0.245733994689482	0.31274	1.751983	-0.30011563374917	0.28095	1.563828	0.999596748001128	0.40745	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.83	2.82	0.32061	0.967000	0.28941	1.875000	0.29413	-0.131000	0.13161	0.625000	0.27956	1.000000	0.68203	0.798000	0.37648	0.3709:0.0:0.6291:0.0	5.593	0.16595	889	0.27310	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1498.43	35	chr17	78537337	.	G	T	1498.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.51;DP=465;ExcessHet=0;FS=4.011;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.63;ReadPosRankSum=-0.816;SOR=1.027	GT:AD:DP:GQ:PL	0/1:74,67:141:99:1510,0,1654	9	0	1	0
chr17	80099686	80099686	G	A	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_017950:exon20:c.G3340A:p.V1114M	Ciliary dyskinesia, primary, 15	0	1502	18	2	0	22	0.00727032	.	.	.	101777	Primary_ciliary_dyskinesia|not_specified|Glycogen_storage_disease,_type_II|not_provided|Primary_ciliary_dyskinesia_15	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365|MedGen:C3661900|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.193	.	0.0020	0.0133786	0.0119	0.0011	0.0915	0.0001	0.0135	0.0028	0.0101	0.0050	0.0113388	1753	154602	rs61740509	0.0057	0.0057	0.0061	0.0054	0.0804	0.0056	0.0056	0.0782	0.0773	0.0008	0.0804	0	0	0.0119	0.0029	0.0030	0.0055	0.0051	0.0084	0.0084	0.0067	0.0101	0.0508	0.0080	0.0079	0.0479	0.0467	0.0014	0	0.0508	0	0.0004	0.0146	0	0.0034	0.0128	0.0054	0.008	0.58626	D	0.022	0.57587	D	0.99	0.63424	D	0.657	0.52725	P	.	.	.	.	0.999999	0.08975	N	2.085	0.57729	M	0.68	0.51952	T	-1.46	0.35792	N	0.137	0.13484	-1.1202	0.02319	T	0.021	0.08686	T	9	0.002135545	0.00031	T	.	.	.	0.193	0.47281	.	.	.	.	0.20466105173852012	0.20383	0.604538799879	0.55388	0.380866736174	0.22379	T	0.091463	0.38801	T	-0.436624	0.01354	T	-0.337424	0.40636	T	0.0120065135329067	0.00189	T	0.59504	0.22051	T	0.073619634	0.16465	0.089792505	0.21019	0.06872856	0.14997	0.089792505	0.21018	-6.161	0.47607	T	0.4338562103322819	0.52053	0.211	0.43949	B	.	.	2.856298	0.37726	20.6	0.99663980041635425	0.78138	0.08123	0.14090	N	AEFDBI	0.085725	0.17378	N	-0.152738319141504	0.35118	2.013125	-0.355627239107991	0.26335	1.453963	0.997528238130017	0.35716	0.700653	0.57754	0	0.491513	0.07743	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.61	2.42	0.28720	0.759000	0.26127	2.242000	0.31619	0.676000	0.76740	0.036000	0.20778	0.968000	0.29604	0.067000	0.16453	0.1705:0.1536:0.6759:0.0	6.333	0.20485	878	0.29785	.	.	.	.	.	rs61740509	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002518	0.010101	0.000000	0.000000	0.000000	0.000000	0.006098	0.000000	0.05	1787.43	34	chr17	80099686	.	G	A	1787.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.258;DP=671;ExcessHet=0;FS=2.098;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.41;ReadPosRankSum=0.116;SOR=0.524	GT:AD:DP:GQ:PL	0/1:67,77:144:99:1799,0,1458	9	0	1	0
chr17	80332150	80332150	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon21:c.C3662T:p.A1221V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.280	0.0494924148924	.	.	0.0003	0	0	0	0	0	0	0.0008	3.88e-05	6	154602	rs777134779	3.899e-05	3.694e-05	2.994e-05	4.829e-05	0.0006	3.054e-05	2.736e-05	0.0005	0.0005	0	0	0	0	0	0	9.269e-07	3.453e-05	0.0006	1.969e-05	1.968e-05	0	4.028e-05	0.0006	5.24e-06	2.45e-06	0.0002	9e-05	0	0	0	0	0	0	0	0	0	0.0006	0.076	0.34269	T	0.101	0.38596	T	.	.	.	.	.	.	.	.	.	.	0.93686	0.26906	N	.	.	.	1.62	0.28391	T	-2.61	0.56144	D	0.232	0.26111	-0.5074	0.68381	T	0.292	0.66355	T	8	0.07768121	0.12290	T	0.049492	0.63837	D	0.280	0.59740	.	.	0.464098490096	0.46036	.	.	1.05796501594	0.76374	0.408727765083	0.26281	T	0.03427	0.23581	T	-0.507013	0.00522	T	-0.561664	0.16222	T	0.251108399562672	0.22922	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.60068	A	.;.	.;.	1.970933	0.25037	16.62	0.89979148683726462	0.19272	0.89949	0.50755	D	AEFGBI	0.096577	0.19493	N	0.285179967165608	0.55396	3.703762	0.195729953180958	0.49614	3.162365	0.00254088067087355	0.09511	0.719381	0.83141	0	0.697927	0.68747	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.57	3.56	0.39892	2.260000	0.42923	2.515000	0.33093	0.599000	0.40250	0.967000	0.34061	0.989000	0.31174	0.091000	0.17840	0.0:0.7505:0.0:0.2495	10.928	0.46413	862	0.33134	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1022.43	89	chr17	80332150	.	C	T	1022.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.083;DP=798;ExcessHet=0;FS=2.744;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.24;ReadPosRankSum=0.985;SOR=1.022	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1034,0,1030	9	0	1	0
chr17	81120894	81120896	CTT	-	exonic	AATK	.	nonframeshift deletion	AATK:NM_004920:exon10:c.2731_2733del:p.K911del,AATK:NM_001080395:exon11:c.3040_3042del:p.K1014del	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.012e-05	0	0	0	0	0.0001	0.0036	0	2.59e-05	4	154602	rs749135838	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	6.064e-05	0	0	0	0	0.0009	0.0001	0.0001	0.0002	7.891e-05	7.878e-05	7.717e-05	8.072e-05	0.0002	4.5e-05	3.515e-05	4.771e-05	3.343e-05	7.232e-05	0	6.537e-05	0	0	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000508	0.000000	0.000000	0.000000	0.000000	0.000000	0.003125	0.000000	0.05	1145.39	40	chr17	81120893	.	ACTT	A	1145.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.551;DP=410;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.5;ReadPosRankSum=1.21;SOR=0.715	GT:AD:DP:GQ:PL	0/1:48,31:79:99:1157,0,1922	9	0	1	0
chr17	81645388	81645388	G	A	exonic	TSPAN10	.	nonsynonymous SNV	TSPAN10:NM_001290212:exon3:c.G433A:p.E145K,TSPAN10:NM_031945:exon3:c.G433A:p.E145K	.	420	1092	9	1	0	11	0.00501139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.747	0.101894637628	0.0004	0.000998403	0.0007	0.0001	0.0003	0	0	0.0009	0.0012	0.0014	0.0005757	89	154602	rs200753733	0.0005	0.0005	0.0005	0.0005	0.0033	0.0005	0.0004	0.0022	0.0018	0.0002	0.0008	0.0092	5.066e-05	0	0.0033	0.0002	0.0011	0.0009	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0003	0.0004	0.0003	4.809e-05	0	0.0004	0.0092	0.0002	0	0.0034	0.0003	0.0005	0.0010	.	.	.	0.021	0.61642	D	.	.	.	.	.	.	0.000554	0.43413	D	0.151092	0.96065	0.26138	N	.	.	.	.	.	.	.	.	.	0.688	0.70088	0.033	0.82908	D	0.686	0.89154	D	10	0.016880631	0.00357	T	0.101895	0.77505	D	.	.	.	.	0.312001716656	0.30816	0.6988886885356386	0.69829	.	.	0.558574199677	0.47066	T	.	.	.	-0.00554941	0.50887	T	0.178719	0.81921	D	0.11735226213932	0.14168	T	0.857714	0.58002	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.44948	B	.;.	.;.	4.429691	0.68686	25.3	0.99917698568920754	0.98518	0.95764	0.66054	D	AEFBI	0.728626	0.67659	D	0.501199193131891	0.67160	5.044892	0.352255519516988	0.58644	4.036116	0.950736610003263	0.27914	0.078448	0.01964	0	0.097471	0.02872	0	0.072005	0.02045	0	0.075334	0.01956	0	.	.	4.15	4.15	0.47978	2.673000	0.46524	6.630000	0.56149	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.957000	0.51019	0.0:0.0:0.8412:0.1588	13.277	0.59627	.	.	Tetraspanin, conserved site;Tetraspanin, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005539	0.000000	0.012228	0.000000	0.000000	0.008621	0.009146	0.003788	0.05	877.43	71	chr17	81645388	.	G	A	877.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.383;DP=643;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.39;ReadPosRankSum=1.94;SOR=0.593	GT:AD:DP:GQ:PL	0/1:26,31:57:99:889,0,690	9	0	1	0
chr18	5419733	5419733	G	A	exonic	EPB41L3	.	nonsynonymous SNV	EPB41L3:NM_001281533:exon12:c.C1538T:p.S513L,EPB41L3:NM_001281534:exon12:c.C1538T:p.S513L,EPB41L3:NM_001330557:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384682:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384683:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384684:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384685:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384686:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384687:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384688:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384689:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384690:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384691:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384692:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384693:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384694:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384695:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384696:exon12:c.C1484T:p.S495L,EPB41L3:NM_001384697:exon12:c.C1538T:p.S513L,EPB41L3:NM_001384698:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384699:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384700:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384701:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384702:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384703:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384704:exon12:c.C1211T:p.S404L,EPB41L3:NM_001384705:exon12:c.C1157T:p.S386L,EPB41L3:NM_001384706:exon12:c.C1157T:p.S386L,EPB41L3:NM_012307:exon12:c.C1484T:p.S495L,EPB41L3:NM_001281535:exon14:c.C1211T:p.S404L	.	415	1105	2	0	0	2	0.000904159	.	.	.	3242202	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.165	0.0559610711732	.	.	9.886e-05	9.61e-05	0	0	0	0.0001	0	0.0001	7.76e-05	12	154602	rs769159490	9.372e-05	9.371e-05	9.801e-05	8.938e-05	0.0014	8.092e-05	7.584e-05	0.0007	0.0005	0	2.236e-05	0	0	0	0.0014	9.083e-05	0.0002	0.0002	8.537e-05	8.53e-05	0.0001	6.716e-05	0.0004	4.954e-05	3.96e-05	7.296e-05	3.031e-05	7.217e-05	0	6.538e-05	0	0	0	0	7.351e-05	0.0009	0.0004	0.144	0.25255	T	0.371	0.27591	T	0.242	0.30930	B	0.022	0.19653	B	0.655275	0.10476	N	0.832580	0.997123	0.43648	D	1.59	0.40313	L	-1.63	0.82806	D	-1.05	0.35399	N	0.163	0.20395	0.364	0.88555	D	0.793	0.92973	D	10	0.110667974	0.20693	T	0.055961	0.66430	D	0.165	0.42395	.	.	0.915881041614	0.91503	0.19745220438870198	0.19662	0.139515389065	0.15724	0.332229316235	0.15271	T	0.177955	0.52843	T	-0.151785	0.28031	T	-0.163657	0.58022	T	0.0299825128167868	0.01987	T	0.921108	0.79443	D	0.028340364	0.02157	0.04473158	0.05862	0.028340364	0.02156	0.04473158	0.05862	-11.748	0.85122	D	.	.	0.071	0.19154	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.081525	0.60724	24.3	0.99483109656543145	0.67014	0.72001	0.35259	D	AEFBI	0.604491	0.59557	D	-0.3728509769995	0.26440	1.443034	-0.284790810522542	0.28599	1.595829	0.999950016724267	0.48110	0.706548	0.73137	0	0.563428	0.19063	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.61	3.81	0.43020	4.988000	0.63592	6.587000	0.56014	0.676000	0.76740	0.833000	0.30177	0.998000	0.33993	0.794000	0.37478	0.1398:0.0:0.8602:0.0	12.059	0.52850	828	0.39726	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	1413.43	37	chr18	5419733	.	G	A	1413.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.123;DP=344;ExcessHet=0;FS=5.797;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=19.91;ReadPosRankSum=-0.746;SOR=0.249	GT:AD:DP:GQ:PL	0/1:19,23:42:99:525,0,445	8	1	1	0
chr18	6948454	6948454	C	T	exonic	LAMA1	.	nonsynonymous SNV	LAMA1:NM_005559:exon60:c.G8659A:p.A2887T	Poretti-Boltshauser syndrome, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00499135885665	.	.	8.24e-05	0	0	0.0006	0	2.997e-05	0	0.0002	7.12e-05	11	154602	rs747612750	2.599e-05	2.599e-05	2.45e-05	2.75e-05	0.0003	1.932e-05	1.692e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0003	0	0	1.079e-05	3.311e-05	0.0001	1.972e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	6.832e-05	2.859e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.208	0.19782	T	0.622	0.07394	T	0.019	0.17989	B	0.004	0.10090	B	0.119665	0.19065	N	0.507528	1	0.08975	N	1.175	0.29870	L	2.29	0.17113	T	-1.1	0.28497	N	0.11	0.09631	-1.0005	0.29774	T	0.031	0.13242	T	10	0.02549231	0.00741	T	0.004991	0.12598	T	0.009	0.00846	0.43	0.47843	0.0986583533028	0.09354	0.42138855929448016	0.42054	0.104874384788	0.11861	0.240239679813	0.02812	T	0.042492	0.26201	T	-0.605749	0.00134	T	-0.74486	0.03689	T	0.011347468723731	0.00168	T	0.670133	0.27879	T	0.018464042	0.00368	0.03448926	0.02525	0.018464042	0.00367	0.03448926	0.02524	-4.449	0.30216	T	0.08709620646588638	0.05081	0.075	0.05360	B	.	.	0.308330	0.06837	3.363	0.95578669671416361	0.27282	0.07000	0.13026	N	AEFDGBI	0.064590	0.12550	N	-1.03209011533866	0.07943	0.3707654	-1.03932772981758	0.08930	0.4415856	0.990406128005332	0.32142	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.7	1.42	0.21524	0.286000	0.18660	-0.089000	0.12081	-0.180000	0.10397	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	0.1146:0.6243:0.0:0.2611	7.658	0.27553	855	0.34697	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	3137.43	44	chr18	6948454	.	C	T	3137.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.328;DP=579;ExcessHet=0;FS=0.975;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-1.358;SOR=0.769	GT:AD:DP:GQ:PL	0/1:117,128:245:99:3149,0,2686	9	0	1	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	53060.1	364	chr18	9887397	.	C	*	53060.1	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.52;DP=4775;ExcessHet=0.2065;FS=0;InbreedingCoeff=0.2;MLEAC=6;MLEAF=0.3;MQ=59.51;MQRankSum=-0.379;QD=15.12;ReadPosRankSum=-0.189;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,147:381:99:.:.:12015,6462,8439:.	4	0	6	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T,PTPN2:NM_002828:exon7:c.G826A:p.A276T,PTPN2:NM_080422:exon7:c.G826A:p.A276T,PTPN2:NM_080423:exon7:c.G826A:p.A276T,PTPN2:NM_001207013:exon8:c.G895A:p.A299T	.	.	.	.	.	.	.	.	.	.	.	3585126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3333	461.14	36	chr18	12814235	.	C	T	461.14	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-1.277;DP=363;ExcessHet=4.5998;FS=156.993;InbreedingCoeff=-0.5318;MLEAC=7;MLEAF=0.389;MQ=59.96;MQRankSum=0;QD=1.97;ReadPosRankSum=0.222;SOR=8.425	GT:AD:DP:GQ:PL	0/1:28,12:40:84:84,0,396	3	0	6	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.000961216431828	.	.	.	.	.	.	.	.	.	.	8.41e-05	13	154602	rs28606506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.37118	T	0.267	0.22561	T	0.455	0.36245	P	0.137	0.33328	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	1.38	0.34050	T	0.11	0.05706	N	0.36	0.40164	-1.0459	0.15563	T	0.060	0.25273	T	9	0.10279083	0.18859	T	9.61E-4	0.00980	T	0.021	0.04004	0.44	0.49484	0.191931220699	0.18833	0.008575884169956268	0.00821	.	.	0.661467790604	0.61620	T	0.009409	0.08568	T	-0.232587	0.16309	T	-0.571872	0.15279	T	0.115140116944907	0.13948	T	0.559044	0.19511	T	0.0817621	0.18801	0.04864013	0.07268	0.0817621	0.18801	0.04864013	0.07268	-3.826	0.21193	T	.	.	0.126	0.26545	B	.	.	1.424813	0.18423	13.73	0.59010782571540543	0.06124	0.01638	0.05273	N	AEFI	0.034532	0.04293	N	-0.924811265974744	0.10264	0.4896489	-1.10812489953313	0.07544	0.3673648	1.29605380073252E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.53	-0.976	0.09761	1.060000	0.30139	.	.	0.332000	0.19570	0.003000	0.16062	0.000000	0.08366	0.028000	0.12845	0.0:0.4792:0.0:0.5208	4.177	0.09818	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	3102.99	249	chr18	14513679	.	T	G	3102.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.54;DP=1927;ExcessHet=10.3881;FS=9.616;InbreedingCoeff=-0.6668;MLEAC=8;MLEAF=0.4;MQ=51.26;MQRankSum=-8.212;QD=2.03;ReadPosRankSum=-3.641;SOR=1.694	GT:AD:DP:GQ:PL	0/1:132,39:171:99:642,0,3313	2	0	8	0
chr18	31403566	31403566	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon11:c.C1568T:p.P523L,DSG4:NM_177986:exon11:c.C1568T:p.P523L	Hypotrichosis 6, Autosomal recessive	2	1440	77	3	0	83	0.0280121	.	.	.	237228	not_provided|Hypotrichosis_6	MedGen:C3661900|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.436	.	0.0073	0.00798722	0.0086	0.0009	0.0049	0.0001	0.0014	0.0090	0.0099	0.0219	0.0083893	1297	154602	rs34620697	0.0073	0.0073	0.0067	0.0079	0.0193	0.0072	0.0071	0.0185	0.0182	0.0008	0.0053	0.0099	5.039e-05	0.0020	0.0180	0.0070	0.0083	0.0193	0.0054	0.0054	0.0055	0.0053	0.0197	0.0051	0.0050	0.0165	0.0153	0.0011	0.0154	0.0056	0.0101	0.0002	0.0012	0.0068	0.0077	0.0057	0.0197	0.001	0.78490	D	0.003	0.76473	D	1.0	0.90584	D	0.998	0.92359	D	0.003957	0.34294	N	0.000000	1	0.81001	D	3.7	0.94612	H	-0.01	0.62762	T	-7.66	0.95511	D	0.672	0.67995	-0.0615	0.80961	T	0.425	0.76890	T	10	0.0106598735	0.00236	T	.	.	.	0.436	0.74093	.	.	0.927137678208	0.92639	0.652556277191424	0.65191	0.248225803681	0.27384	0.45504295826	0.32633	T	0.624655	0.88286	D	-0.2795	0.10720	T	-0.158002	0.58531	T	0.0894284915205194	0.11150	T	0.851115	0.53499	D	0.43418938	0.63025	0.5285101	0.72758	0.46111244	0.64740	0.5285101	0.72759	-7.308	0.56253	T	.	.	0.417	0.60533	A	.;.	.;.	4.483836	0.69979	25.5	0.99870903935111033	0.94815	0.88443	0.48373	D	AEFGBHCIJ	0.497987	0.53228	N	0.794065608974443	0.85734	8.665106	0.729373834982191	0.84610	8.339843	0.999999999997648	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.01	6.01	0.97420	4.117000	0.57623	5.930000	0.51304	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:1.0:0.0:0.0	20.125	0.97974	718	0.55760	.;.	.	.	.	.	.	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	0	0	1	0	0.014602	0.010101	0.009511	0.000000	0.000000	0.008621	0.018293	0.041667	0.15	4496.45	135	chr18	31403566	.	C	T	4496.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.43;DP=690;ExcessHet=0.7463;FS=1.778;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=-0.474;SOR=0.851	GT:AD:DP:GQ:PL	0/1:83,66:149:99:1582,0,1816	7	0	3	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	592.8	251	chr18	37067197	.	G	A	592.8	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-7.587;DP=1619;ExcessHet=1.5895;FS=165.612;InbreedingCoeff=-0.2259;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=1.5;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:254,70:324:99:.:.:335,0,5316:.	6	0	4	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.0253137631567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.113e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.075	0.47097	T	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.82	0.82106	M	1.12	0.38718	T	-5.52	0.85994	D	0.706	0.72477	-0.6365	0.63295	T	0.251	0.62073	T	10	0.7858712	0.78241	D	0.025314	0.48293	D	0.487	0.77528	0.449	0.50957	0.730059074749	0.72765	.	.	1.28565786633	0.82653	0.864578425884	0.91784	D	0.402891	0.75979	T	0.233233	0.77025	D	0.0972472	0.76725	D	0.982453107833862	0.74501	D	0.911209	0.68535	D	0.6268725	0.74131	0.5983521	0.76673	0.6268725	0.74132	0.5983521	0.76674	-9.398	0.70223	D	.	.	0.999	0.98504	P	.;.	.;.	5.110104	0.85422	28.6	0.99866937388056276	0.94457	0.99359	0.94992	D	AEFBI	0.900400	0.84589	D	0.849071139545032	0.89055	9.816957	0.851133728241547	0.93083	11.813	0.999999999990326	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	15.443	0.74935	881	0.29269	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	966.14	144	chr18	51177112	.	A	G	966.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.834;DP=781;ExcessHet=0.2348;FS=197.103;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=3.07;ReadPosRankSum=2.75;SOR=8.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,30:183:99:0|1:51177112_A_G:445,0,5711:51177112	8	0	2	0
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.0371233782211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170539047	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.003	0.79402	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.8	0.48769	T	-4.82	0.80851	D	0.665	0.72299	-0.4713	0.69679	T	0.319	0.68874	T	10	0.70792806	0.72858	D	0.037123	0.57424	D	0.315	0.63694	0.411	0.44723	0.803544974683	0.80170	.	.	1.72979365526	0.90724	0.81810438633	0.84738	D	0.45612	0.79501	T	-0.0908589	0.37934	T	-0.368289	0.37088	T	0.994576918359117	0.85946	D	0.979702	0.93682	D	0.72907937	0.79671	0.6503769	0.79545	0.72907937	0.79673	0.6503769	0.79545	-7.331	0.56415	T	.	.	0.945	0.86363	P	.;.	.;.	5.416801	0.90641	31	0.99916025942671016	0.98379	0.99021	0.90073	D	AEFBI	0.899214	0.84335	D	0.898058628751112	0.91662	10.99954	0.896553768688559	0.95422	13.60534	0.999999999999997	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.97	5.97	0.96935	7.905000	0.86479	7.718000	0.67175	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.210	0.93737	881	0.29269	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	542.14	138	chr18	51177115	.	C	T	542.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-3.501;DP=927;ExcessHet=0.2348;FS=171.228;InbreedingCoeff=-0.1109;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=2.28;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,23:179:24:0|1:51177112_A_G:24,0,6123:51177112	8	0	2	0
chr18	58579253	58579253	A	G	exonic	ALPK2	.	nonsynonymous SNV	ALPK2:NM_052947:exon4:c.T1523C:p.M508T	.	426	1095	1	0	0	1	0.000456413	.	.	.	3448642	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.087	0.00911311370784	.	.	8.239e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs771346367	2.736e-06	2.736e-06	0	5.5e-06	4.637e-05	6.4e-07	4.3e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	0	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.20002	T	0.192	0.28300	T	0.037	0.20876	B	0.004	0.10090	B	0.370640	0.04360	N	1.414480	1	0.08975	N	1.5	0.37844	L	1.01	0.41058	T	-1.38	0.34198	N	0.148	0.15046	-1.0563	0.12698	T	0.064	0.26667	T	10	0.04836282	0.04276	T	0.009113	0.23965	T	0.087	0.25287	0.201	0.11522	0.241664281697	0.23763	0.1381398356559239	0.13737	0.111227701114	0.12544	0.254994153976	0.04312	T	0.006091	0.05528	T	-0.28498	0.10146	T	-0.465603	0.25992	T	0.0603064931929111	0.07217	T	0.289271	0.05243	T	0.09846204	0.23224	0.14261323	0.33920	0.09846204	0.23224	0.14261323	0.33919	-2.038	0.03327	T	.	.	0.184	0.39881	B	.	.	-0.158430	0.03310	0.575	0.46262098907248439	0.03692	0.03449	0.08593	N	ALL	0.077237	0.15556	N	-1.09443692211684	0.06745	0.3113777	-1.15994908556816	0.06592	0.317772	0.999999999923523	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.491513	0.07944	0	0.542086	0.14980	0	.	.	5.58	-3.6	0.04277	-0.010000	0.12681	0.512000	0.19089	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.2639:0.2713:0.3563:0.1085	2.785	0.05043	938	0.14419	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3162.43	129	chr18	58579253	.	A	G	3162.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.951;DP=1012;ExcessHet=0;FS=1.473;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.98;ReadPosRankSum=1.09;SOR=0.6	GT:AD:DP:GQ:PL	0/1:123,141:264:99:3174,0,2818	9	0	1	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	1077.5	85	chr18	65824683	.	C	G	1077.5	.	AC=8;AF=0.444;AN=18;BaseQRankSum=0.26;DP=852;ExcessHet=10.3881;FS=190.814;InbreedingCoeff=-0.7227;MLEAC=8;MLEAF=0.444;MQ=60;MQRankSum=0;QD=1.69;ReadPosRankSum=1.05;SOR=10.452	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,22:63:99:0|1:65824683_C_G:194,0,790:65824683	1	0	8	1
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M,ATP9B:NM_198531:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.375	669.49	35	chr18	79373905	.	C	G	669.49	.	AC=3;AF=0.375;AN=8;BaseQRankSum=0.918;DP=365;ExcessHet=2.1085;FS=142.794;InbreedingCoeff=-0.3888;MLEAC=5;MLEAF=0.625;MQ=60;MQRankSum=0;QD=4.38;ReadPosRankSum=1.2;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,6:51:31:0|1:79373902_C_T:31,0,1656:79373902	1	0	3	6
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V,ATP9B:NM_198531:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	663.14	35	chr18	79373906	.	C	G	663.14	.	AC=4;AF=0.5;AN=8;BaseQRankSum=-1.034;DP=374;ExcessHet=2.1085;FS=138.543;InbreedingCoeff=-0.3888;MLEAC=6;MLEAF=0.75;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=1.26;SOR=7.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,6:51:31:0|1:79373902_C_T:31,0,1656:79373902	0	0	4	6
chr19	1482081	1482081	C	A	exonic	PCSK4	.	nonsynonymous SNV	PCSK4:NM_017573:exon15:c.G1946T:p.C649F	.	425	1096	1	0	0	1	0.000455996	.	.	.	2815102	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0060	0.00199681	0.0047	0.0009	0	0	0.0417	0.0112	0	0.0003	0.0023738	367	154602	rs78359732	0.0099	0.0096	0.0101	0.0097	0.0120	0.0098	0.0097	0.0118	0.0117	0.0012	0.0027	0.0007	0	0.0027	0	0.0120	0.0099	0.0003	0.0054	0.0054	0.0061	0.0048	0.0099	0.0051	0.0050	0.0093	0.0090	0.0017	0	0.0026	0	0	0.0028	0	0.0099	0.0047	0.0002	0.001	0.78490	D	0.003	0.76473	D	0.94	0.52768	P	0.564	0.49695	P	0.013495	0.28825	U	0.230057	1	0.08975	N	2.61	0.76335	M	-1.09	0.77206	T	-6.95	0.93475	D	0.552	0.57775	-0.4212	0.71353	T	0.397	0.74951	T	10	0.010106891	0.00226	T	.	.	.	0.256	0.56694	.	.	0.604448947905	0.60128	0.9259797671004093	0.92574	0.793273405956	0.65909	0.513420581818	0.40701	T	0.736539	0.92668	D	-0.299283	0.08727	T	-0.195284	0.55092	T	0.0976235792380246	0.12093	T	0.527447	0.17405	T	0.71563065	0.78919	0.5579329	0.74427	0.71563065	0.78920	0.5579329	0.74428	-15.876	0.97569	D	.	.	0.911	0.83519	P	.	.	2.769284	0.36341	20.2	0.98154600230988309	0.38722	0.21451	0.21406	N	AEFDBI	0.209846	0.33579	N	-0.225323071609274	0.32097	1.806569	-0.471306364129177	0.22949	1.249011	0.739921853871163	0.23195	0.646311	0.45356	0	0.633656	0.55848	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	3.86	2.79	0.31792	0.832000	0.27143	1.302000	0.25481	0.520000	0.23804	0.005000	0.17040	0.049000	0.21787	0.018000	0.11154	0.0:0.8554:0.0:0.1446	6.657	0.22185	970	0.06235	.	DAZAP1|AC004156.3|CIRBP	Adipose_Visceral_Omentum|Breast_Mammary_Tissue|Nerve_Tibial	FGF22	Skin_Sun_Exposed_Lower_leg	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002629	0.000000	0.000000	0.005988	0.000000	0.000000	0.006623	0.003876	0.05	529.43	40	chr19	1482081	.	C	A	529.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.573;DP=370;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.18;ReadPosRankSum=-0.632;SOR=0.698	GT:AD:DP:GQ:PL	0/1:27,25:52:99:541,0,676	9	0	1	0
chr19	1619162	1619162	T	C	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon16:c.A1399G:p.S467G,TCF3:NM_001351778:exon16:c.A1396G:p.S466G,TCF3:NM_001351779:exon16:c.A1399G:p.S467G,TCF3:NM_003200:exon16:c.A1399G:p.S467G	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.0553090472168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.32296	T	0.133	0.35205	T	0.003	0.11197	B	0.004	0.12133	B	0.517640	0.11777	N	0.795267	0.921956	0.36704	D	1.9	0.50570	L	0.57	0.54347	T	-2.44	0.58896	N	0.195	0.27077	-0.6670	0.61964	T	0.241	0.60857	T	10	0.12659332	0.24068	T	0.055309	0.66184	D	0.063	0.18251	0.145	0.04843	0.54848712621	0.54504	0.22248688467334266	0.22163	0.0337965628679	0.03547	0.549770772457	0.45825	T	0.673285	0.90327	D	-0.142934	0.29423	T	-0.443091	0.28463	T	0.0961645888915409	0.11929	T	0.79722	0.44782	T	0.19499446	0.41271	0.0837528	0.19218	0.19499446	0.41271	0.0837528	0.19218	-2.79	0.08092	T	0.2070601033968039	0.27666	0.060	0.04477	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.740851	0.22151	15.50	0.98389309481552245	0.40936	0.42130	0.26810	N	AEFDBCI	0.181369	0.30869	N	-0.21834914043765	0.32381	1.82555	-0.186777367954665	0.32022	1.817742	0.224299795386438	0.18392	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.94	2.86	0.32427	0.080000	0.14657	0.411000	0.18111	0.665000	0.62972	0.191000	0.24200	0.624000	0.25831	0.427000	0.27384	0.3568:0.1361:0.0:0.507	3.060	0.05822	970	0.06235	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	2469.43	34	chr19	1619162	.	T	C	2469.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.865;DP=521;ExcessHet=0;FS=2.547;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=-1.126;SOR=0.526	GT:AD:DP:GQ:PL	0/1:84,111:195:99:2481,0,1837	9	0	1	0
chr19	2226215	2226215	G	A	exonic	DOT1L	.	nonsynonymous SNV	DOT1L:NM_032482:exon27:c.G3694A:p.A1232T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0137651842955	.	.	.	.	.	.	.	.	.	.	.	.	.	rs954955213	1.602e-05	1.915e-05	1.714e-05	1.485e-05	2.958e-05	1.049e-05	8.96e-06	8.88e-06	7.19e-06	0	2.958e-05	9.344e-05	0	0	0	1.5e-05	3.538e-05	1.373e-05	1.314e-05	1.313e-05	2.569e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0.0003	0	0	0	1.47e-05	0	0	0.013	0.53900	D	0.278	0.21812	T	0.024	0.19075	B	0.002	0.06944	B	0.878134	0.08775	N	0.940200	1	0.08975	N	1.43	0.35840	L	1.91	0.31470	T	-0.87	0.35991	N	0.075	0.04913	-0.9872	0.33298	T	0.051	0.21806	T	10	0.059856266	0.07262	T	0.013765	0.33405	T	0.050	0.13987	0.132	0.03662	0.336424232111	0.33258	0.12215441885091569	0.12142	0.294171915598	0.31839	0.329987496138	0.14932	T	0.082659	0.36877	T	-0.281494	0.10511	T	-0.642123	0.09516	T	0.060081005247755	0.07182	T	0.692831	0.30243	T	0.053712424	0.10204	0.048356146	0.07165	0.053712424	0.10204	0.048356146	0.07165	-4.74	0.33884	T	.	.	0.067	0.03128	B	.;.	.;.	0.542586	0.09114	5.895	0.98151137049267256	0.38688	0.08342	0.14284	N	AEFBCI	0.039019	0.05607	N	-0.80768897940767	0.13113	0.6437696	-0.864838229289158	0.12931	0.6680471	0.00171354335458361	0.08808	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.49	0.857	0.18162	0.104000	0.15148	0.558000	0.19484	0.676000	0.76740	0.000000	0.06391	0.005000	0.19230	0.002000	0.04165	0.1521:0.2621:0.4341:0.1517	2.486	0.04318	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2160.43	35	chr19	2226215	.	G	A	2160.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.09;DP=476;ExcessHet=0;FS=2.099;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.211;SOR=0.904	GT:AD:DP:GQ:PL	0/1:65,86:151:99:2172,0,1322	9	0	1	0
chr19	2933605	2933607	GAA	-	exonic	ZNF77	.	nonframeshift deletion	ZNF77:NM_021217:exon4:c.1520_1522del:p.L507del	.	410	1107	4	1	0	6	0.0027027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.00199681	0.0020	0.0008	0.0010	0	0.0020	0.0021	0	0.0041	0.0001811	28	154602	rs565530193	0.0029	0.0029	0.0028	0.0030	0.0066	0.0028	0.0028	0.0049	0.0046	0.0003	0.0010	7.654e-05	0	0.0015	0.0066	0.0031	0.0026	0.0052	0.0017	0.0017	0.0018	0.0016	0.0025	0.0016	0.0015	0.0021	0.0020	0.0004	0	0.0024	0	0	0.0024	0.0034	0.0024	0.0028	0.0025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002518	0.005051	0.001359	0.002924	0.000000	0.000000	0.000000	0.007576	0.05	3190.39	93	chr19	2933604	.	CGAA	C	3190.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.926;DP=1071;ExcessHet=0;FS=0.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=20.72;ReadPosRankSum=0.412;SOR=0.779	GT:AD:DP:GQ:PL	0/1:72,82:154:99:3202,0,2700	9	0	1	0
chr19	2991892	2991892	T	C	exonic	TLE6	.	nonsynonymous SNV	TLE6:NM_024760:exon13:c.T925C:p.Y309H,TLE6:NM_001143986:exon14:c.T1294C:p.Y432H	Preimplantation embryonic lethality, Autosomal recessive	428	1091	3	0	0	3	0.001373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00560817857747	0.0003	0.000199681	0.0007	9.612e-05	0.0002	0	0	0.0007	0	0.0021	0.0006015	93	154602	rs148540573	0.0004	0.0004	0.0003	0.0005	0.0019	0.0004	0.0004	0.0016	0.0016	0.0001	0.0003	0.0052	2.519e-05	0	0.0014	0.0002	0.0006	0.0019	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0004	2.41e-05	0	0.0004	0.0020	0	0	0.0034	0.0005	0.0005	0.0010	0.053	0.38863	T	0.206	0.27145	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.1	0.28011	L	2.83	0.10771	T	-0.4	0.13805	N	0.166	0.17553	-1.0422	0.16651	T	0.020	0.08453	T	9	0.007812589	0.00177	T	0.005608	0.14500	T	0.042	0.11227	.	.	0.341934017632	0.33809	0.19031741766222754	0.18949	0.0813673231391	0.09155	0.33832013607	0.16186	T	0.039216	0.25113	T	-0.696276	0.00038	T	-0.780192	0.02448	T	0.0177759870061575	0.00506	T	0.489851	0.16619	T	0.03579766	0.04282	0.035318732	0.02761	0.036575682	0.04525	0.03242879	0.01978	-1.367	0.01513	T	.	.	0.085	0.18663	B	.;.	.;.	-0.051813	0.03937	0.876	0.18496055640184669	0.00584	0.00717	0.03025	N	AEFBI	0.033380	0.03948	N	-1.08324507703957	0.06951	0.3215063	-1.28026040472279	0.04697	0.2221896	1.32155205067531E-5	0.02871	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.562822	0.20929	0	.	.	3.09	-4.28	0.03475	0.647000	0.24500	-1.282000	0.05824	-0.757000	0.03535	0.023000	0.19925	0.000000	0.08366	0.001000	0.02609	0.1551:0.2407:0.4833:0.1209	3.279	0.06500	988	0.01987	WD40-repeat-containing 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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	973.43	42	chr19	2991892	.	T	C	973.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.486;DP=495;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.79;ReadPosRankSum=0.642;SOR=0.684	GT:AD:DP:GQ:PL	0/1:78,47:125:99:985,0,1837	9	0	1	0
chr19	3574588	3574588	-	GGGCG	splicing	HMG20B	NM_006339:exon4:c.351+2->GGGCG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	6.5e-06	1	154602	rs769689501	2.226e-05	2.326e-05	2.485e-05	1.962e-05	0.0001	1.611e-05	1.378e-05	4.107e-05	2.389e-05	0.0001	4.786e-05	0	0	0	0	2.085e-05	5.035e-05	0	8.554e-05	8.537e-05	9.009e-05	8.078e-05	0.0003	4.964e-05	3.968e-05	0.0001	0.0001	0.0003	0	6.556e-05	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	608.39	35	chr19	3574588	.	T	TGGGCG	608.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.719;DP=376;ExcessHet=0;FS=1.212;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-1.37;SOR=0.929	GT:AD:DP:GQ:PL	0/1:31,17:48:99:620,0,1251	9	0	1	0
chr19	3599988	3599988	G	C	exonic	TBXA2R	.	nonsynonymous SNV	TBXA2R:NM_001060:exon2:c.C647G:p.T216R,TBXA2R:NM_201636:exon2:c.C647G:p.T216R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.301739077892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.815	0.81989	M	-0.72	0.72994	T	-4.0	0.74269	D	0.93	0.94550	0.182	0.85600	D	0.537	0.82911	D	10	0.9603721	0.95440	D	0.301739	0.90905	D	0.793	0.93188	0.838	0.94479	0.904398984465	0.90344	0.9502874882467663	0.95011	1.79259073175	0.91533	0.740241765976	0.73008	T	0.703087	0.91468	D	0.355092	0.86875	D	0.272289	0.86703	D	0.996451139450073	0.89378	D	0.908709	0.67605	D	0.8210688	0.85292	0.8166286	0.89323	0.8210688	0.85294	0.8166286	0.89323	-11.466	0.82559	D	0.8133081219546029	0.88780	0.873	0.82369	P	.;.	.;.	5.004811	0.83070	27.9	0.99126333787980847	0.53142	0.95041	0.63223	D	AEFDGBHCI	0.957688	0.97702	D	0.592655580110154	0.72715	5.84958	0.487292021220433	0.67148	5.045243	0.999999908410568	0.74766	0.533608	0.22052	0	0.61073	0.52368	0	0.505578	0.09266	0	0.638833	0.57524	0	.	.	4.53	4.53	0.55009	6.725000	0.74561	8.478000	0.77291	0.499000	0.22661	1.000000	0.71638	1.000000	0.68203	0.583000	0.30967	0.0:0.0:1.0:0.0	16.211	0.81984	970	0.06235	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	1387.43	39	chr19	3599988	.	G	C	1387.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=3.05;DP=446;ExcessHet=0;FS=8.294;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.28;ReadPosRankSum=1.38;SOR=1.096	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1399,0,1331	9	0	1	0
chr19	4510758	4510758	T	C	exonic	PLIN4	.	nonsynonymous SNV	PLIN4:NM_001367868:exon5:c.A3202G:p.T1068A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0125255011953	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299046204	7.087e-06	7.524e-06	9.793e-06	4.309e-06	8.294e-06	3.58e-06	2.61e-06	3.9e-06	2.83e-06	0	0	0	0	0	0	8.294e-06	1.723e-05	0	1.97e-05	1.969e-05	1.285e-05	2.686e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0034	2.941e-05	0	0	0.614	0.05404	T	0.189	0.28575	T	0.007	0.14184	B	0.015	0.17295	B	0.162466	0.17621	N	0.409334	1	0.08975	N	1.395	0.35261	L	3.73	0.03982	T	-1.1	0.28497	N	0.05	0.02179	-0.9152	0.46194	T	0.009	0.03271	T	10	0.07253334	0.10841	T	0.012526	0.31184	T	0.027	0.05988	0.21	0.12781	0.0297737177859	0.01360	0.05321918174000491	0.05263	.	.	0.278061419725	0.07223	T	0.011918	0.10560	T	-0.420443	0.01699	T	-0.841714	0.01073	T	0.031483456492424	0.02223	T	0.235876	0.03275	T	0.041209213	0.06027	0.027696185	0.00943	0.041209213	0.06027	0.027696185	0.00943	-3.396	0.15003	T	.	.	0.067	0.02993	B	.;.	.;.	-0.884582	0.00952	0.037	0.71893092685122273	0.09784	0.02209	0.06439	N	AEFDBCI	0.059753	0.11308	N	-1.29663781274889	0.03716	0.1664896	-1.4373978426608	0.02886	0.1336135	0.907118145340481	0.26250	0.582742	0.33608	0	0.550933	0.16991	0	0.61531	0.40942	0	0.562822	0.20929	0	.	.	3.65	-6.28	0.01844	-1.366000	0.02692	-7.510000	0.01142	-0.173000	0.11020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1257:0.2669:0.3819:0.2255	2.196	0.03673	946	0.12043	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3596.14	109	chr19	4510758	.	T	C	3596.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.813;DP=929;ExcessHet=0.2348;FS=4.254;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.196;SOR=0.932	GT:AD:DP:GQ:PL	0/1:121,81:202:99:1832,0,3055	8	0	2	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	1666.14	467	chr19	8888803	.	G	A	1666.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.64;DP=4501;ExcessHet=0.2348;FS=0.824;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.71;MQRankSum=-9.691;QD=1.65;ReadPosRankSum=1.46;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:483,57:540:53:.:.:53,0,18543:.	8	0	2	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	74.97	385	chr19	8888826	.	T	*	74.97	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.96;DP=3805;ExcessHet=15.1594;FS=9.58;InbreedingCoeff=-0.8182;MLEAC=8;MLEAF=0.4;MQ=57.53;MQRankSum=-10.06;QD=0.02;ReadPosRankSum=1.04;SOR=1.39	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:312,80:445:99:0|1:8888826_T_*:2423,0,12858:8888826	2	0	8	0
chr19	8899972	8899972	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.A39013G:p.T13005A	.	419	1095	8	0	0	8	0.00363967	0	0.03	.	3210996	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.024	0.00749902169758	.	.	1.661e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs756739393	1.369e-06	1.368e-06	1.362e-06	1.376e-06	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	2.836e-05	0.0017	0	5.868e-05	2.66e-05	9.63e-06	5.47e-06	.	.	2.66e-05	0	0	0	0	0.0003	0	0	0	0	0.845	0.02774	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	4.67	0.01735	T	1.1	0.01229	N	0.045	0.01740	-0.9255	0.44786	T	0.001	0.00467	T	7	0.021653622	0.00522	T	0.007499	0.19899	T	0.024	0.04979	0.153	0.05648	0.0138822411134	0.00435	0.07225205961657089	0.07162	.	.	0.242049396038	0.02977	T	.	.	.	-0.549186	0.00295	T	-0.829673	0.01268	T	0.0531765688373252	0.06049	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-6.763	0.52283	T	.	.	0.059	0.00834	B	.	.	0.265119	0.06434	2.903	0.15376159983054832	0.00374	0.00009	0.00143	N	AEFBI	0.015378	0.00290	N	-2.18627876915683	0.00082	0.003520834	-2.16957185045865	0.00131	0.005755971	1.89267803303865E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-0.073000	0.11428	.	.	-2.696000	0.00211	0.011000	0.18532	0.000000	0.08366	0.000000	0.00833	0.2938:0.4676:0.0:0.2386	2.013	0.03280	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	515.45	40	chr19	8899972	.	T	C	515.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-1.927;DP=1142;ExcessHet=0.7463;FS=2.187;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.1;MQRankSum=-13.95;QD=0.81;ReadPosRankSum=-0.363;SOR=0.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,18:227:99:0|1:8899972_T_C:127,0,8722:8899972	7	0	3	0
chr19	8899974	8899974	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39011T:p.T13004I	.	419	1095	8	0	0	8	0.00363967	0.0414	0.372	.	3214956	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.045	0.00118460416831	.	.	2.492e-05	0	8.709e-05	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs778952678	8.896e-06	8.893e-06	9.532e-06	8.253e-06	0.0002	4.96e-06	3.83e-06	4.55e-06	3.32e-06	0	0	0	0	0	0.0002	8.996e-06	1.657e-05	1.16e-05	2.122e-05	0.0017	0	4.395e-05	2.653e-05	5.64e-06	2.57e-06	.	.	2.653e-05	0	0	0	0	0.0002	0	0	0	0	0.011	0.55530	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.43	0.02158	T	-2.06	0.47175	N	0.174	0.18649	-1.0313	0.20034	T	0.017	0.07187	T	8	0.12934974	0.24610	T	0.001185	0.01509	T	0.045	0.12272	.	.	0.128392430309	0.12331	0.11902561227878314	0.11829	.	.	0.318150579929	0.13140	T	.	.	.	-0.323778	0.06593	T	-0.57241	0.15230	T	0.219254165887833	0.21427	T	0.221278	0.02853	T	.	.	.	.	.	.	.	.	-7.441	0.57194	T	.	.	0.144	0.31608	B	.	.	1.710829	0.21783	15.35	0.21896655339985072	0.00856	0.01505	0.04982	N	AEFBI	0.034770	0.04364	N	-0.324931602343095	0.28204	1.553715	-0.621172338705613	0.18950	1.014588	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	0.426000	0.21081	.	.	0.526000	0.24426	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	473.45	40	chr19	8899974	.	G	A	473.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.234;DP=1156;ExcessHet=0.7463;FS=2.163;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=59.12;MQRankSum=-14.13;QD=0.73;ReadPosRankSum=-0.18;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,18:232:99:0|1:8899972_T_C:112,0,8932:8899972	7	0	3	0
chr19	8899979	8899979	G	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.C39006A:p.S13002R	.	420	1090	12	0	0	12	0.00547445	.	.	.	3192352	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.047	0.00102388544923	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1337261124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	0.0019	0	5.902e-05	2.675e-05	9.65e-06	5.49e-06	.	.	2.675e-05	0	0	0	0	0.0003	0	0	0	0	0.005	0.63226	D	0.061	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.6	0.01868	T	-1.27	0.31981	N	0.225	0.25253	-1.0136	0.25784	T	0.015	0.06282	T	8	0.15770155	0.29672	T	0.001024	0.01120	T	0.047	0.12962	0.143	0.04650	0.0920862733494	0.08535	0.15085560951934324	0.15007	.	.	0.265822708607	0.05603	T	.	.	.	-0.261119	0.12768	T	-0.612856	0.11755	T	0.168099865317345	0.18450	T	0.177782	0.01744	T	.	.	.	.	.	.	.	.	-7.626	0.58492	D	.	.	0.224	0.45544	B	.	.	0.282384	0.06594	3.083	0.44924595648877924	0.03489	0.01381	0.04703	N	AEFBI	0.028519	0.02526	N	-0.385439741200818	0.25987	1.414868	-0.673385610186316	0.17627	0.9381749	1.81590448166244E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	1.16	0.19936	-0.802000	0.04651	.	.	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:1.0:0.0	5.678	0.17030	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.15	421.44	40	chr19	8899979	.	G	T	421.44	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.2;DP=1185;ExcessHet=0.7463;FS=2.271;InbreedingCoeff=-0.176;MLEAC=3;MLEAF=0.15;MQ=59.14;MQRankSum=-14.64;QD=0.62;ReadPosRankSum=0.317;SOR=0.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,20:242:99:0|1:8899972_T_C:172,0,9262:8899972	7	0	3	0
chr19	8900001	8900001	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38984A:p.G12995E	.	417	1065	39	1	0	41	0.0188853	.	.	.	3221801	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	0.00120842336054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796151917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.886e-05	0.0031	1.417e-05	0.0001	0.0002	2.927e-05	2.125e-05	3.799e-05	2.25e-05	0.0001	0	0	0	0	0.0004	0	0	0	0.0002	0.091	0.31834	T	0.064	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.58	0.01901	T	-0.88	0.23808	N	0.103	0.08646	-0.9217	0.45320	T	0.007	0.02282	T	8	0.11394003	0.21421	T	0.001208	0.01583	T	0.054	0.15330	0.142	0.04556	0.101711395817	0.09552	0.1462809682678735	0.14550	.	.	0.19396597147	0.00303	T	.	.	.	-0.32769	0.06288	T	-0.708481	0.05374	T	0.163903206586838	0.18155	T	0.165083	0.01523	T	.	.	.	.	.	.	.	.	-6.443	0.49844	T	.	.	0.084	0.09868	B	.	.	-0.242325	0.02882	0.411	0.27013934638062309	0.01321	0.00389	0.01958	N	AEFBI	0.035362	0.04537	N	-0.780672500721295	0.13814	0.6832987	-1.02483553794802	0.09240	0.4585958	8.79614165805569E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	0.00923	0.13400	-2.573000	0.00987	.	.	-0.349000	0.05595	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.4308:0.0:0.0	3.969	0.08937	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.2	867.56	40	chr19	8900001	.	C	T	867.56	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.397;DP=1750;ExcessHet=1.5895;FS=0;InbreedingCoeff=-0.2495;MLEAC=4;MLEAF=0.2;MQ=59.02;MQRankSum=-14.38;QD=0.95;ReadPosRankSum=1.8;SOR=0.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,27:272:99:0|1:8900000_C_T:396,0,10199:8900000	6	0	4	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	1508.95	40	chr19	8900017	.	C	G	1508.95	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.689;DP=2342;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=58.88;MQRankSum=-15.15;QD=0.85;ReadPosRankSum=1.45;SOR=0.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,28:274:99:0|1:8900000_C_T:435,0,10205:8900000	3	0	7	0
chr19	8908637	8908637	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37574C:p.G12525A	.	425	921	175	1	0	177	0.0876672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00100971464853	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796118737	0	1.984e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.704e-06	0.0012	0	1.379e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.069	0.35537	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.5	0.02032	T	-1.0	0.26422	N	0.149	0.15187	-1.0489	0.14705	T	0.019	0.07893	T	8	0.14229593	0.27028	T	0.00101	0.01096	T	0.092	0.26621	0.068	0.00352	0.0920862733494	0.08535	0.09297556608109382	0.09229	.	.	0.207300364971	0.00702	T	.	.	.	-0.324618	0.06526	T	-0.704068	0.05606	T	0.128357648849487	0.15229	T	0.250075	0.03765	T	.	.	.	.	.	.	.	.	-9.338	0.69846	D	.	.	0.128	0.27222	B	.	.	0.716944	0.10859	7.536	0.51191884600897364	0.04518	0.02560	0.07095	N	AEFBI	0.024210	0.01462	N	-0.258816728321443	0.30752	1.717725	-0.553394696242798	0.20716	1.117387	2.41537016268443E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	1.42	0.21524	-0.166000	0.09943	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:1.0:0.0:0.0	6.239	0.19989	934	0.15400	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	880.23	222	chr19	8908637	.	C	G	880.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.15;DP=1758;ExcessHet=2.8389;FS=21.496;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=58.66;MQRankSum=-8.787;QD=0.95;ReadPosRankSum=0.427;SOR=3.3	GT:AD:DP:GQ:PL	0/1:194,19:213:99:214,0,8047	4	0	5	1
chr19	8908644	8908644	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon23:c.G37567C:p.D12523H	.	422	906	191	3	0	197	0.0980587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00120507919294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796881038	6.844e-07	2.805e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.682e-06	0.0013	0	1.372e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.555	0.06482	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.53	0.01980	T	-0.67	0.19297	N	0.127	0.12055	-0.9652	0.38171	T	0.005	0.01833	T	8	0.059954166	0.07290	T	0.001205	0.01558	T	0.015	0.02232	.	.	0.0401082797425	0.02173	0.17377359918076668	0.17297	.	.	0.218874275684	0.01246	T	.	.	.	-0.367293	0.03734	T	-0.765368	0.02923	T	0.0819785980810491	0.10239	T	0.169583	0.01587	T	.	.	.	.	.	.	.	.	-8.635	0.65320	D	.	.	0.155	0.34383	B	.	.	-0.155485	0.03325	0.581	0.2311562001233356	0.00962	0.00236	0.01316	N	AEFBI	0.021935	0.01036	N	-1.22951270346983	0.04577	0.2068566	-1.43744946049098	0.02886	0.1335886	3.83668398290725E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.84	0.05408	-3.238000	0.00603	.	.	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.4784:0.3304:0.0:0.1912	2.526	0.04405	934	0.15400	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	871.27	217	chr19	8908644	.	C	G	871.27	.	AC=5;AF=0.278;AN=18;BaseQRankSum=2.73;DP=1791;ExcessHet=2.8389;FS=21.084;InbreedingCoeff=-0.3802;MLEAC=5;MLEAF=0.278;MQ=58.43;MQRankSum=-8.048;QD=0.95;ReadPosRankSum=0.948;SOR=3.012	GT:AD:DP:GQ:PL	0/1:190,18:209:99:184,0,7888	4	0	5	1
chr19	9126862	9126862	A	G	exonic	OR7G3	.	nonsynonymous SNV	OR7G3:NM_001001958:exon1:c.T89C:p.L30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.00615011496865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.924	0.51285	P	0.413	0.44885	B	0.940681	0.08356	U	0.955333	0.999611	0.47849	D	1.985	0.53793	M	2.26	0.17596	T	-4.7	0.79829	D	0.551	0.57690	-0.9424	0.42234	T	0.081	0.32031	T	10	0.89328647	0.88677	D	0.00615	0.16111	T	0.243	0.54921	0.618	0.75232	0.225215365344	0.22153	0.597788184579124	0.59709	0.140614320253	0.15858	0.264840036631	0.05481	T	0.040883	0.25675	T	-0.0912216	0.37876	T	-0.36881	0.37028	T	0.980639755725861	0.73466	D	0.486851	0.14885	T	0.8658379	0.88535	0.80879086	0.88824	0.8658379	0.88537	0.80879086	0.88824	-10.135	0.74716	D	.	.	0.183	0.39765	B	.	.	1.965188	0.24961	16.59	0.98749675460518138	0.45633	0.41510	0.26673	N	AEFDBI	0.199798	0.32657	N	-0.0544483382949705	0.39404	2.323158	-0.241758644519134	0.30056	1.689058	0.667303414536461	0.22336	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.02	4.02	0.45968	3.389000	0.52255	.	.	0.629000	0.51854	0.046000	0.21249	0.660000	0.26011	0.411000	0.27028	1.0:0.0:0.0:0.0	12.258	0.53949	976	0.04745	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1436.43	36	chr19	9126862	.	A	G	1436.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.737;DP=915;ExcessHet=0;FS=3.103;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.72;ReadPosRankSum=0.719;SOR=0.743	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1448,0,1650	9	0	1	0
chr19	9854801	9854801	G	C	exonic	OLFM2	.	nonsynonymous SNV	OLFM2:NM_001304348:exon5:c.C516G:p.D172E,OLFM2:NM_001304347:exon6:c.C822G:p.D274E,OLFM2:NM_058164:exon6:c.C750G:p.D250E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.0792427157215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.012	0.63918	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999582	0.47691	D	2.47	0.71715	M	-2.4	0.88455	D	-2.05	0.47008	N	0.312	0.38438	0.529	0.90956	D	0.766	0.92023	D	9	0.6964848	0.72176	D	0.079243	0.73189	D	0.597	0.84019	0.571	0.69431	0.616309752723	0.61320	.	.	1.45215106663	0.86188	0.682164549828	0.64580	T	0.374173	0.82387	T	0.00502319	0.52346	T	-0.230561	0.51717	T	0.97174608707428	0.69433	D	0.971303	0.89644	D	0.22800027	0.45511	0.21998447	0.46757	0.22800027	0.45511	0.21998447	0.46756	-8.617	0.65202	D	.	.	0.696	0.81000	P	.;.;.	.;.;.	3.698712	0.52737	23.3	0.99704958505600771	0.80936	0.86476	0.45764	D	AEFDBI	0.465642	0.51363	N	0.404831549550597	0.61688	4.373243	0.331328797368957	0.57388	3.904456	0.053917881777599	0.14954	0.650006	0.45971	0	0.550933	0.16991	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.45	3.42	0.38259	0.721000	0.25580	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0978:0.0:0.9022:0.0	10.135	0.41876	878	0.29785	Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like domain;Olfactomedin-like domain|Olfactomedin-like domain|Olfactomedin-like 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	.	.	.	.	.	.	.	.	0.1111	272.26	125	chr19	9854801	.	G	C	272.26	.	AC=2;AF=0.111;AN=18;BaseQRankSum=-3.834;DP=873;ExcessHet=0.2348;FS=206.967;InbreedingCoeff=-0.1687;MLEAC=2;MLEAF=0.111;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.16;SOR=10.125	GT:AD:DP:GQ:PL	0/1:77,34:117:99:135,0,1207	7	0	2	1
chr19	10338838	10338838	T	C	exonic	ICAM3	.	nonsynonymous SNV	ICAM3:NM_001320605:exon2:c.A187G:p.I63V,ICAM3:NM_002162:exon2:c.A187G:p.I63V	.	427	1086	9	0	0	9	0.00412655	.	.	.	727847	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.008	.	0.0009	0.00938498	0.0077	0.0004	0.0003	0.0495	0.0354	0.0028	0.0166	0.0035	0.0067916	1050	154602	rs17697947	0.0043	0.0043	0.0043	0.0044	0.0588	0.0042	0.0042	0.0569	0.0560	0.0002	0.0007	0.0010	0.0588	0.0369	0.0026	0.0013	0.0046	0.0029	0.0058	0.0058	0.0037	0.0079	0.0466	0.0054	0.0053	0.0418	0.0400	0.0003	0	0.0017	0.0003	0.0466	0.0439	0	0.0015	0.0047	0.0039	0.712	0.04020	T	0.819	0.03840	T	0.001	0.07471	B	0.013	0.16460	B	0.766272	0.09582	N	0.853625	1	0.22763	N	1.26	0.31868	L	2.54	0.13916	T	-0.53	0.16393	N	0.06	0.03175	-0.9342	0.43515	T	0.004	0.01435	T	10	0.0026617646	0.00041	T	.	.	.	0.008	0.00669	.	.	0.128392430309	0.12331	0.32726545291155884	0.32639	0.366126919708	0.38193	0.387051075697	0.23253	T	0.03386	0.23088	T	-0.693733	0.00040	T	-0.720596	0.04767	T	0.00489653433331906	0.00053	T	0.50435	0.15896	T	0.101566344	0.23993	0.04078051	0.04486	0.101566344	0.23992	0.04078051	0.04486	-2.093	0.03554	T	.	.	0.136	0.29533	B	.;.	.;.	-0.723412	0.01267	0.066	0.25413303159105682	0.01170	0.04019	0.09450	N	AEFBCIJ	0.052109	0.09270	N	-1.52066017625794	0.01714	0.07501812	-1.57356518576762	0.01819	0.0828294	0.999993280911081	0.74766	0.643511	0.44296	0	0.672317	0.65289	0	0.688494	0.62686	0	0.567892	0.33627	0	.	.	5.66	-5.54	0.02343	-0.529000	0.06273	-1.347000	0.05657	-0.226000	0.07819	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.218:0.5242:0.2578	8.062	0.29799	758	0.50837	Intercellular adhesion molecule, N-terminal|Immunoglobulin subtype;Intercellular adhesion molecule, N-terminal	.	.	.	.	rs17697947	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	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.003788	0.1	3045.14	83	chr19	10338838	.	T	C	3045.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.537;DP=859;ExcessHet=0.2348;FS=0.891;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=-0.394;SOR=0.76	GT:AD:DP:GQ:PL	0/1:73,69:142:99:1692,0,1806	8	0	2	0
chr19	10420933	10420933	C	T	exonic	PDE4A	.	nonsynonymous SNV	PDE4A:NM_001111307:exon1:c.C169T:p.R57W	.	422	1093	7	0	0	7	0.00319197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	.	.	0.00678914	0.0105	0.0004	0.0005	0.0596	0.0696	0.0047	0.0167	0.0056	0.0045795	708	154602	rs201432982	0.0031	0.0033	0.0030	0.0031	0.0437	0.0030	0.0030	0.0419	0.0412	0.0002	0.0007	0.0009	0.0437	0.0338	0.0023	0.0008	0.0037	0.0035	0.0051	0.0051	0.0031	0.0071	0.0304	0.0048	0.0047	0.0265	0.0250	0.0003	0	0.0016	0.0003	0.0304	0.0441	0	0.0012	0.0047	0.0037	.	.	.	0.028	0.54934	D	0.912	0.50421	P	0.109	0.31370	B	0.084477	0.02389	N	1.840680	0.999986	0.54805	D	0	0.06538	N	.	.	.	.	.	.	0.229	0.25745	-1.0545	0.13172	T	0.006	0.02168	T	10	0.003028363	0.00050	T	.	.	.	.	.	.	.	0.102598925029	0.09809	.	.	.	.	0.788813471794	0.80261	T	0.050592	0.28638	T	-0.499693	0.00574	T	-0.453307	0.27332	T	0.0611437898960345	0.07347	T	0.485151	0.14792	T	0.11001145	0.26006	0.18093538	0.40924	0.11001145	0.26006	0.18093538	0.40923	-6.478	0.50116	T	.	.	0.169	0.37159	B	.	.	3.320444	0.45663	22.2	0.99268790816438879	0.57491	0.72601	0.35530	D	AEFDBHCIJ	0.219032	0.34396	N	-0.364526428777785	0.26741	1.462	-0.402129127772751	0.24934	1.368285	0.999999943656591	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.79	2.73	0.31266	0.514000	0.22492	0.823000	0.21872	0.597000	0.34315	0.989000	0.36753	0.977000	0.30130	0.408000	0.26961	0.2277:0.7723:0.0:0.0	8.586	0.32819	759	0.50631	.	.	.	.	.	.	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	0.004111	0.000000	0.002778	0.000000	0.000000	0.000000	0.012579	0.007634	0.1	1512.14	34	chr19	10420933	.	C	T	1512.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.038;DP=439;ExcessHet=0.2348;FS=2.737;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.28;ReadPosRankSum=-0.172;SOR=0.908	GT:AD:DP:GQ:PL	0/1:54,33:87:99:697,0,1280	8	0	2	0
chr19	10514162	10514162	C	T	exonic	S1PR5	.	nonsynonymous SNV	S1PR5:NM_001166215:exon2:c.G850A:p.V284I,S1PR5:NM_030760:exon2:c.G850A:p.V284I	.	333	1181	8	0	0	8	0.00337553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	0.0008	0.00479233	0.0050	0.0003	0.0003	0.0174	0.0389	0.0025	0.0193	0.0020	0.0040491	626	154602	rs150461309	0.0031	0.0031	0.0031	0.0031	0.0335	0.0030	0.0030	0.0320	0.0314	5.978e-05	0.0007	0.0010	0.0335	0.0365	0.0038	0.0008	0.0030	0.0018	0.0048	0.0048	0.0029	0.0068	0.0216	0.0045	0.0044	0.0184	0.0172	0.0002	0	0.0023	0.0003	0.0216	0.0441	0	0.0012	0.0033	0.0029	1.0	0.00964	T	1.0	0.03296	T	0.045	0.21781	B	0.021	0.19346	B	0.089285	0.20435	U	0.440276	0.999994	0.08975	N	-0.415	0.02918	N	1.23	0.36872	T	0.17	0.05125	N	0.078	0.05287	-1.0134	0.25848	T	0.014	0.05608	T	10	0.0031430721	0.00053	T	.	.	.	0.046	0.12618	.	.	0.531531992086	0.52802	0.32803289889116455	0.32716	.	.	0.648723840714	0.59804	T	0.033523	0.22947	T	-0.654708	0.00068	T	-0.700246	0.05813	T	0.00794326790643292	0.00094	T	0.652235	0.26282	T	0.061632678	0.12783	0.03606189	0.02977	0.061632678	0.12782	0.03606189	0.02977	-6.549	0.50663	T	.	.	0.099	0.26232	B	.;.;.	.;.;.	1.992013	0.25307	16.72	0.83038261321540119	0.14509	0.06877	0.12903	N	AEFDBCI	0.080054	0.16180	N	-1.11962483273056	0.06294	0.2893701	-1.04034974972405	0.08909	0.4404267	0.976464743820542	0.29727	0.652421	0.48094	0	0.596491	0.49125	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	5.21	1.84	0.24348	-0.655000	0.05447	3.954000	0.40696	0.465000	0.21702	0.000000	0.06391	0.999000	0.35428	0.947000	0.49155	0.147:0.4824:0.143:0.2276	1.722	0.02738	743	0.52768	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	rs150461309	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	0.001011	0.000000	0.000000	0.000000	0.000000	0.000000	0.006135	0.000000	0.1	3239.14	34	chr19	10514162	.	C	T	3239.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.876;DP=622;ExcessHet=0.2348;FS=0.424;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=11.17;ReadPosRankSum=1.23;SOR=0.664	GT:AD:DP:GQ:PL	0/1:91,76:167:99:1684,0,2188	8	0	2	0
chr19	10986422	10986422	C	T	exonic	SMARCA4	.	nonsynonymous SNV	SMARCA4:NM_001128845:exon3:c.C589T:p.P197S,SMARCA4:NM_001128846:exon3:c.C589T:p.P197S,SMARCA4:NM_001128848:exon3:c.C589T:p.P197S,SMARCA4:NM_001128847:exon4:c.C589T:p.P197S,SMARCA4:NM_001128849:exon4:c.C589T:p.P197S,SMARCA4:NM_001374457:exon4:c.C589T:p.P197S,SMARCA4:NM_003072:exon4:c.C589T:p.P197S,SMARCA4:NM_001128844:exon5:c.C589T:p.P197S	Coffin-Siris syndrome 4, Autosomal dominant	0	1497	24	1	0	26	0.00860927	.	.	.	138990	not_provided|Intellectual_disability,_autosomal_dominant_16|Rhabdoid_tumor_predisposition_syndrome_2|Hereditary_cancer-predisposing_syndrome|Coffin-Siris_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465|MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.653	.	0.0009	0.00139776	0.0057	0.0003	0.0014	0	0.0231	0.0049	0.0081	0.0096	0.0021733	336	154602	rs200664441	0.0019	0.0020	0.0018	0.0021	0.0072	0.0019	0.0019	0.0067	0.0065	3.049e-05	0.0002	0.0007	0	0.0101	0.0047	0.0014	0.0017	0.0072	0.0019	0.0019	0.0014	0.0025	0.0054	0.0017	0.0017	0.0038	0.0032	0.0002	0	0.0003	0.0003	0.0002	0.0113	0	0.0019	0.0009	0.0054	0.178	0.22138	T	0.357	0.19845	T	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.01	0.25309	L	-2.37	0.88220	D	-2.54	0.55025	D	0.776	0.77413	0.313	0.87761	D	0.708	0.89947	D	10	0.008630902	0.00196	T	.	.	.	0.653	0.86936	.	.	0.657837784098	0.65497	0.6235723534144302	0.62290	0.913241329037	0.71139	0.714207053185	0.69203	T	0.675847	0.90428	D	-0.201606	0.20572	T	-0.0585044	0.66437	T	0.0357437925679412	0.02936	T	0.970203	0.89274	D	0.13477674	0.31302	0.16040199	0.37361	0.15440038	0.34949	0.16865475	0.38840	-10.812	0.78616	D	0.23241403128316984	0.31457	0.496	0.71937	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.208073	0.63548	24.6	0.9989858992289542	0.97124	0.98040	0.79094	D	AEFDBHCI	0.912643	0.87356	D	0.50929276600967	0.67637	5.108343	0.495885789513639	0.67717	5.121527	0.999999999802393	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.830000	0.84907	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:1.0:0.0:0.0	15.759	0.77828	508	0.75398	Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ	.	.	.	.	.	Likely benign	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	1	0	0.004065	0.000000	0.008219	0.000000	0.000000	0.008772	0.000000	0.007576	0.05	1485.43	36	chr19	10986422	.	C	T	1485.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.19;DP=439;ExcessHet=0;FS=2.23;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.464;SOR=0.83	GT:AD:DP:GQ:PL	0/1:62,68:130:99:1497,0,1341	9	0	1	0
chr19	11221884	11221884	G	A	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon28:c.C3517T:p.R1173W,DOCK6:NM_001367830:exon29:c.C3622T:p.R1208W	Adams-Oliver syndrome 2, Autosomal recessive	1	1495	25	1	0	27	0.00894929	.	.	.	438086	not_provided|DOCK6-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.128	0.024716856273	0.0027	0.00159744	0.0025	0.0023	0.0012	0	0.0003	0.0029	0.0033	0.0042	0.0023544	364	154602	rs145081732	0.0026	0.0026	0.0025	0.0027	0.0083	0.0025	0.0025	0.0064	0.0058	0.0015	0.0014	0.0032	2.519e-05	0.0002	0.0083	0.0028	0.0023	0.0035	0.0018	0.0018	0.0021	0.0016	0.0025	0.0017	0.0016	0.0021	0.0020	0.0016	0	0.0013	0.0023	0	0	0.0102	0.0024	0.0014	0.0025	0.002	0.72154	D	0.005	0.72224	D	0.981	0.59675	D	0.586	0.50343	P	0.047094	0.23377	N	0.416055	0.657158	0.30481	N	1.1	0.28011	L	1.85	0.24472	T	-3.22	0.64939	D	0.425	0.46462	-1.0565	0.12646	T	0.044	0.18742	T	10	0.010068476	0.00225	T	0.024717	0.47706	T	0.128	0.35103	.	.	0.414150184683	0.41028	0.5947782358054443	0.59407	0.462280186915	0.45762	0.568136334419	0.48413	T	0.040953	0.25698	T	-0.406529	0.02097	T	-0.357008	0.38398	T	0.0362760959576312	0.03028	T	0.926807	0.73035	D	0.08433924	0.19516	0.108308405	0.26088	0.08433924	0.19516	0.108308405	0.26087	-9.738	0.72328	D	.	.	0.198	0.42126	B	.	.	4.949368	0.81744	27.6	0.99899746864282124	0.97199	0.94870	0.62616	D	AEFBI	0.548525	0.56177	D	-0.0397028517292993	0.40063	2.372941	-0.0379795339695781	0.38015	2.233739	5.09064424599943E-5	0.03989	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.44	3.37	0.37692	1.997000	0.40406	.	.	0.676000	0.76740	0.989000	0.36753	1.000000	0.68203	0.599000	0.31363	0.0:0.0:0.6585:0.3415	11.223	0.48098	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008056	0.000000	0.010870	0.014620	0.000000	0.008621	0.003049	0.015152	0.15	3219.45	33	chr19	11221884	.	G	A	3219.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=2.06;DP=541;ExcessHet=0.7463;FS=2.77;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=11.3;ReadPosRankSum=1.13;SOR=0.873	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1063,0,965	7	0	3	0
chr19	13261453	13261453	C	T	exonic	CACNA1A	.	nonsynonymous SNV	CACNA1A:NM_001127221:exon26:c.G4250A:p.C1417Y,CACNA1A:NM_001127222:exon26:c.G4247A:p.C1416Y	Epileptic encephalopathy, early infantile, 42, Autosomal dominant;Episodic ataxia, type 2, Autosomal dominant;Migraine, familial hemiplegic, 1, Autosomal dominant;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Autosomal dominant;Spinocerebellar ataxia 6, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.900	0.662448640831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	3.945	0.96414	H	-4.36	0.97317	D	-10.89	0.99244	D	0.9	0.91736	1.103	0.99760	D	0.959	0.98667	D	10	0.92822963	0.92167	D	0.662449	0.97167	D	0.900	0.97210	0.597	0.72739	0.946521584196	0.94595	0.9989162058167032	0.99890	3.10580878237	0.99392	0.820091307163	0.85041	D	0.425318	0.77547	T	0.548974	0.95690	D	0.550787	0.95627	D	0.999760091304779	0.98882	D	0.970803	0.90930	D	0.9488749	0.96151	0.8905547	0.94306	0.9488749	0.96151	0.8905547	0.94306	-12.59	0.87605	D	0.7545057421757159	0.83651	1.000	0.99795	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.250013	0.88146	29.5	0.98413605309687413	0.41201	0.57634	0.30428	D	AEFGBHCI	0.971659	0.99367	D	0.815197305321873	0.87046	9.085217	0.690351591084019	0.81645	7.575577	1.0	0.98316	0.706298	0.61202	0	0.166054	0.03914	2	0.709663	0.75317	0	0.75052	0.99595	0	.	.	4.28	4.28	0.50183	7.876000	0.85623	7.597000	0.61435	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.622000	0.31948	0.0:1.0:0.0:0.0	15.505	0.75468	867	0.32089	Ion transport domain;Ion transport domain;Ion transport domain;.;.;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;.;Ion transport domain;Ion transport 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	.	.	.	.	.	.	.	.	0.1875	263.11	49	chr19	13261453	.	C	T	263.11	.	AC=3;AF=0.188;AN=16;BaseQRankSum=-0.237;DP=472;ExcessHet=0.7463;FS=167.371;InbreedingCoeff=-0.2237;MLEAC=3;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.74;ReadPosRankSum=0.963;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,9:40:2:.:.:2,0,515:.	5	0	3	2
chr19	13937915	13937915	A	G	exonic	PODNL1	.	nonsynonymous SNV	PODNL1:NM_001146254:exon2:c.T110C:p.L37S,PODNL1:NM_001146255:exon2:c.T110C:p.L37S,PODNL1:NM_001370095:exon2:c.T116C:p.L39S,PODNL1:NM_024825:exon2:c.T95C:p.L32S	.	383	1088	48	3	0	54	0.0242152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	.	0.0053	0.00778754	0.0086	0.0173	0.0039	0	0	0.0039	0	0.0135	0.0030401	470	154602	rs138002759	0.0023	0.0023	0.0020	0.0026	0.0167	0.0022	0.0022	0.0146	0.0141	0.0157	0.0030	0.0050	8.078e-05	0.0001	0.0167	0.0011	0.0038	0.0121	0.0056	0.0056	0.0057	0.0055	0.0142	0.0053	0.0052	0.0133	0.0129	0.0142	0	0.0046	0.0052	0	0	0.0136	0.0016	0.0033	0.0106	0.53	0.07025	T	0.854	0.05292	T	0.001	0.07471	B	0.001	0.04355	B	0.224036	0.16071	N	0.520751	1	0.21303	N	-1.445	0.00556	N	0.8	0.90451	T	1.09	0.02721	N	0.122	0.11340	-1.0197	0.23812	T	0.015	0.06138	T	10	0.0027478933	0.00043	T	.	.	.	0.037	0.09474	.	.	0.327686398923	0.32377	0.43842433421110827	0.43759	0.301711307818	0.32506	0.636624932289	0.58085	T	0.001701	0.01130	T	-0.520466	0.00437	T	-0.508713	0.21448	T	0.000207637940343668	0.00001	T	0.159184	0.01637	T	0.023944188	0.01178	0.039862506	0.04177	0.023944188	0.01178	0.039862506	0.04176	-3.872	0.21884	T	.	.	0.055	0.06756	B	.;.;.;.;.;.	.;.;.;.;.;.	0.792610	0.11628	8.217	0.63685854503355543	0.07290	0.00089	0.00592	N	AEFDBHI	0.040439	0.06014	N	-1.43840650099168	0.02309	0.1018238	-1.33528064533313	0.03982	0.1869006	0.999649798510355	0.41316	0.615755	0.39536	0	0.547309	0.14657	0	0.618376	0.41669	0	0.620976	0.48614	0	.	.	4.68	1.19	0.20120	0.054000	0.14087	0.377000	0.17739	-0.171000	0.11205	0.217000	0.24502	0.008000	0.19753	0.202000	0.21954	0.332:0.1387:0.3877:0.1415	1.436	0.02202	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008180	0.010417	0.011050	0.008982	0.050000	0.000000	0.009434	0.003817	0.05	906.43	35	chr19	13937915	.	A	G	906.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.783;DP=424;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=-1.042;SOR=0.805	GT:AD:DP:GQ:PL	0/1:45,41:86:99:918,0,1003	9	0	1	0
chr19	14952972	14952972	C	G	exonic	SLC1A6	.	nonsynonymous SNV	SLC1A6:NM_001384669:exon9:c.G1455C:p.L485F,SLC1A6:NM_005071:exon9:c.G1455C:p.L485F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.452	0.122696587035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.01	0.65728	D	0.995	0.90584	D	0.885	0.92359	P	0.000001	0.84330	D	0.000000	0.99997	0.53665	D	3.175	0.88760	M	-0.04	0.63240	T	-3.69	0.70674	D	0.873	0.87049	-0.3727	0.72879	T	0.384	0.74002	T	10	0.8845182	0.87774	D	0.122697	0.80372	D	0.452	0.75211	0.831	0.94042	0.629396092934	0.62636	0.9816604799376272	0.98158	1.67296278305	0.89877	0.867198467255	0.92164	D	0.110645	0.88082	T	0.0921078	0.63427	D	-0.10547	0.62970	T	0.975513935089111	0.70968	D	0.983202	0.94289	D	0.382367	0.59487	0.27660137	0.53606	0.382367	0.59488	0.27660137	0.53605	-11.433	0.81979	D	.	.	0.952	0.88195	P	.;.;.	.;.;.	3.649608	0.51790	23.1	0.99854234902361871	0.93279	0.77007	0.37817	D	AEFDBI	0.266611	0.38349	N	0.453894669651976	0.64423	4.696683	0.342383057947675	0.58050	3.973451	1.92610476560303E-4	0.05898	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.41	2.1	0.26226	0.825000	0.27047	.	.	0.510000	0.23265	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.1807:0.5423:0.1753:0.1017	2.894	0.05336	976	0.04745	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3151.43	45	chr19	14952972	.	C	G	3151.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.098;DP=623;ExcessHet=0;FS=0.936;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-0.561;SOR=0.693	GT:AD:DP:GQ:PL	0/1:127,139:266:99:3163,0,2823	9	0	1	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4100.81	50	chr19	17286692	.	T	*	4100.81	.	AC=9;AF=0.45;AN=20;BaseQRankSum=-0.268;DP=564;ExcessHet=0.2348;FS=4.99;InbreedingCoeff=-0.1111;MLEAC=9;MLEAF=0.45;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.42;SOR=1.13	GT:AD:DP:GQ:PL	0/1:0,23:34:99:2391,374,189	2	1	7	0
chr19	20949670	20949670	A	T	exonic	ZNF85	.	nonsynonymous SNV	ZNF85:NM_001256173:exon3:c.A964T:p.T322S,ZNF85:NM_003429:exon4:c.A1156T:p.T386S,ZNF85:NM_001256171:exon5:c.A1246T:p.T416S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00063649670564	.	0.000199681	0.0003	0	0	0	0	0	0	0.0021	0.0002264	35	154602	rs529155145	0.0001	0.0001	5.448e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	0	0	0	1.657e-05	0.0022	2.627e-05	2.625e-05	1.285e-05	4.029e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.115	0.28520	T	0.189	0.34837	T	0.054	0.24078	B	0.142	0.33681	B	.	.	.	.	1	0.08975	N	0.58	0.15352	N	3.21	0.07125	T	-3.35	0.67589	D	0.043	0.03502	-1.0059	0.28186	T	0.017	0.07187	T	9	0.012609988	0.00270	T	6.36E-4	0.00319	T	0.023	0.04649	0.338	0.32816	0.148003135375	0.14442	0.004208923889227671	0.00394	0.00575121171634	0.00504	0.253939956427	0.04195	T	0.067733	0.33278	T	-0.689641	0.00042	T	-0.770661	0.02746	T	0.0286268917252715	0.01780	T	0.0953905	0.01061	T	0.1487764	0.33950	0.097073466	0.23091	0.1487764	0.33949	0.097073466	0.23090	-6.996	0.54537	T	.	.	0.159	0.35119	B	.;.;.	.;.;.	0.988683	0.13663	10.20	0.70569711356515796	0.09339	0.04963	0.10728	N	AEFBCI	.	.	.	-1.09515863081429	0.06732	0.3107404	-1.21297993799094	0.05701	0.2723685	8.86229337463511E-6	0.01202	0.615465	0.37627	0	0.633656	0.55848	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	1.35	-0.176	0.12658	-0.821000	0.04560	.	.	0.617000	0.49538	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.5613:0.0:0.1841:0.2546	2.166	0.03603	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.000531	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05	421.43	68	chr19	20949670	.	A	T	421.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.29;DP=462;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=6.48;ReadPosRankSum=-0.856;SOR=0.61	GT:AD:DP:GQ:PL	0/1:44,21:65:99:433,0,1056	9	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	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	.	.	.	.	.	.	.	.	0.15	1141.45	50	chr19	21383191	.	G	A	1141.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.762;DP=611;ExcessHet=0.7463;FS=22.899;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.49;MQRankSum=-8.835;QD=3.29;ReadPosRankSum=-2.09;SOR=1.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,18:116:99:0|1:21383168_A_G:461,0,4061:21383168	7	0	3	0
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	682.45	50	chr19	21383196	.	T	C	682.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.86;DP=598;ExcessHet=0.7463;FS=20.497;InbreedingCoeff=-0.1764;MLEAC=3;MLEAF=0.15;MQ=58.72;MQRankSum=-9.572;QD=2.04;ReadPosRankSum=-2.152;SOR=2.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,14:111:99:0|1:21383168_A_G:296,0,4031:21383168	7	0	3	0
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	455.23	50	chr19	21383203	.	A	AACTC	455.23	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.81;DP=588;ExcessHet=0.2348;FS=29.19;InbreedingCoeff=-0.1168;MLEAC=2;MLEAF=0.1;MQ=58.89;MQRankSum=-9.611;QD=1.96;ReadPosRankSum=-1.622;SOR=2.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,9:106:86:0|1:21383168_A_G:86,0,4046:21383168	8	0	2	0
chr19	22663895	22663895	T	A	exonic	ZNF492	.	nonsynonymous SNV	ZNF492:NM_020855:exon4:c.T226A:p.C76S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000492105191183	.	.	4.997e-05	0	0	0	0	0	0	0.0003	2.59e-05	4	154602	rs62118831	1.643e-05	1.726e-05	8.52e-06	2.445e-05	0.0002	1.094e-05	9.14e-06	0.0002	0.0001	0	0	0	0	0	0	1.867e-06	1.729e-05	0.0002	1.329e-05	1.317e-05	0	2.723e-05	0.0004	2.21e-06	8.3e-07	7.347e-05	3.05e-05	0	0	0	0	0	0	0	0	0	0.0004	0.008	0.58626	D	0.445	0.13140	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	3.24	0.06845	T	1.74	0.00550	N	0.042	0.01498	-0.9545	0.40185	T	0.011	0.03996	T	9	0.03200808	0.01345	T	4.92E-4	0.00143	T	0.017	0.02790	0.516	0.61611	0.117506650769	0.11410	0.010476025276238	0.01008	1.44831164804	0.86095	0.349095225334	0.17789	T	5.09E-4	0.00188	T	-0.655531	0.00067	T	-0.884566	0.00617	T	0.0644635543814978	0.07851	T	0.119588	0.00922	T	0.101327084	0.23935	0.13376671	0.32068	0.101327084	0.23935	0.13376671	0.32068	-0.072	0.00375	T	.	.	0.112	0.22061	B	.	.	0.735010	0.11045	7.698	0.3117240056194725	0.01743	0.00042	0.00346	N	AEFBI	0.034291	0.04221	N	-1.69765843561396	0.00850	0.0367745	-1.78118629272536	0.00821	0.0366803	2.48937154139745E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.769	-0.852	0.10171	-3.676000	0.00444	.	.	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2798:0.0:0.7202	4.625	0.11858	988	0.01987	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1668.16	70	chr19	22663895	.	T	A	1668.16	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.601;DP=436;ExcessHet=0.2348;FS=2.158;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.32;MQRankSum=-2.685;QD=11.2;ReadPosRankSum=-0.141;SOR=0.944	GT:AD:DP:GQ:PL	0/1:31,48:79:99:1149,0,653	9	0	1	0
chr19	32976669	32976669	C	T	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon3:c.C350T:p.T117M,FAAP24:NM_152266:exon5:c.C635T:p.T212M	.	428	1082	10	2	0	14	0.00642792	.	.	.	1289153	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.328	0.0348122791162	0.0015	0.00139776	0.0027	0.0005	0.0016	0	0.0026	0.0034	0.0011	0.0032	0.0024903	385	154602	rs148106526	0.0026	0.0026	0.0026	0.0026	0.0038	0.0026	0.0025	0.0031	0.0029	0.0002	0.0013	0.0005	0	0.0042	0.0038	0.0028	0.0024	0.0034	0.0022	0.0022	0.0024	0.0019	0.0048	0.0020	0.0019	0.0039	0.0036	0.0006	0	0.0048	0.0006	0.0002	0.0034	0.0034	0.0025	0.0028	0.0037	.	.	.	0.002	0.79402	D	1.0	0.90584	D	0.954	0.69447	D	0.000392	0.44960	D	0.226611	0.919453	0.37174	D	1.6	0.40776	L	2.52	0.14160	T	.	.	.	0.442	0.80180	-0.2184	0.77193	T	0.302	0.67325	T	9	0.0058882535	0.00132	T	0.034812	0.55931	D	.	.	.	.	0.28297238246	0.27903	0.20282100742663625	0.20199	0.95380284473	0.72739	.	.	.	0.050693	0.28669	T	-0.451339	0.01109	T	-0.421238	0.30934	T	0.020310959559876	0.00731	T	0.69903	0.30897	T	0.47475508	0.65581	0.47809625	0.69766	0.47475508	0.65582	0.47809625	0.69766	-7.246	0.55811	T	.	.	0.108	0.20469	B	.;.;.;.	.;.;.;.	4.024142	0.59457	24.1	0.99869682912059199	0.94726	0.88265	0.48115	D	AEFDGBCI	0.450678	0.50497	N	0.354377324027661	0.58969	4.072858	0.265603429066642	0.53542	3.522629	0.999998589771638	0.74766	0.712529	0.81865	0	0.635938	0.57008	0	0.779548	0.98927	0	0.599892	0.37169	0	.	.	5.21	4.17	0.48303	3.220000	0.50909	4.016000	0.41206	0.544000	0.25403	0.988000	0.36536	1.000000	0.68203	0.214000	0.22296	0.0:0.8566:0.1434:0.0	15.048	0.71506	361	0.84870	.;.;.;.	.	.	.	.	.	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	0.007583	0.000000	0.006793	0.011696	0.000000	0.008621	0.003106	0.007576	0.1	1584.14	65	chr19	32976669	.	C	T	1584.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.876;DP=460;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=1.15;SOR=0.629	GT:AD:DP:GQ:PL	0/1:19,27:46:99:617,0,384	8	0	2	0
chr19	35131998	35131998	A	C	exonic	LGI4	.	nonsynonymous SNV	LGI4:NM_139284:exon4:c.T359G:p.L120R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.581	0.352264652903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.998	0.73220	D	0.951	0.73562	D	0.004895	0.33292	N	0.130653	0.880492	0.81001	D	2.51	0.73131	M	0.07	0.61677	T	-2.75	0.60507	D	0.897	0.89689	0.099	0.84161	D	0.422	0.76684	T	10	0.9784908	0.97728	D	0.352265	0.92299	D	0.581	0.83137	0.893	0.97460	0.909415158807	0.90850	0.9013088624621514	0.90102	1.15439653339	0.79321	0.701942801476	0.67424	T	0.671541	0.90257	D	0.204576	0.74321	D	0.0560824	0.73985	D	0.992367327213287	0.82825	D	0.948505	0.80194	D	0.76217467	0.81582	0.63858205	0.78892	0.76217467	0.81583	0.63858205	0.78893	-17.897	0.99479	D	0.3018059014984798	0.39921	0.960	0.89791	P	.;.;.	.;.;.	5.258995	0.88304	29.5	0.99757995125210031	0.84851	0.99558	0.97425	D	AEFBI	0.883589	0.81262	D	0.71785536023478	0.80802	7.37591	0.611416608750583	0.75766	6.369279	0.999999909433651	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.19	4.19	0.48645	8.932000	0.92420	11.001000	0.84769	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	11.260	0.48310	917	0.20147	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	3297.14	41	chr19	35131998	.	A	C	3297.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.087;DP=670;ExcessHet=0.2348;FS=2.346;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.99;ReadPosRankSum=-1.885;SOR=0.781	GT:AD:DP:GQ:PL	0/1:96,87:183:99:1869,0,2191	8	0	2	0
chr19	35511491	35511491	C	0	exonic	DMKN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	2788.18	80	chr19	35511491	.	C	*	2788.18	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.19;DP=565;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.69;ReadPosRankSum=1.51;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,34:66:99:0|1:35511491_C_*:2428,1084,1785:35511491	8	0	2	0
chr19	35857151	35857153	TCC	-	exonic	KIRREL2	.	nonframeshift deletion	KIRREL2:NM_001329530:exon1:c.32_34del:p.L13del,KIRREL2:NM_001363667:exon1:c.32_34del:p.L13del,KIRREL2:NM_032123:exon1:c.32_34del:p.L13del,KIRREL2:NM_199179:exon1:c.32_34del:p.L13del,KIRREL2:NM_199180:exon1:c.32_34del:p.L13del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	.	0.0001	0	0.0003	0	0	0.0001	0.0022	0.0002	0.00011	17	154602	rs765791761	0.0002	0.0002	0.0002	0.0002	0.0056	0.0001	0.0001	0.0040	0.0035	0.0001	0.0002	0	0	0	0.0056	0.0001	0.0004	0.0002	9.936e-05	9.875e-05	0.0001	5.431e-05	0.0002	6.055e-05	4.918e-05	6.817e-05	5.097e-05	2.438e-05	0	0.0001	0	0	0	0.0034	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004536	0.005051	0.009537	0.000000	0.000000	0.000000	0.003049	0.000000	0.05	2393.39	37	chr19	35857150	.	GTCC	G	2393.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.015;DP=440;ExcessHet=0;FS=1.52;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=21.37;ReadPosRankSum=-1.777;SOR=0.867	GT:AD:DP:GQ:PL	0/1:49,63:112:99:2405,0,1824	9	0	1	0
chr19	36891688	36891688	-	T	exonic	ZNF829	.	frameshift insertion	ZNF829:NM_001037232:exon6:c.1102dupA:p.I368Nfs*10,ZNF829:NM_001171979:exon6:c.1345dupA:p.I449Nfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1467098547	3.421e-06	3.42e-06	2.723e-06	4.126e-06	2.24e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	0	2.24e-05	0	0	0	0	3.598e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1168.39	34	chr19	36891688	.	A	AT	1168.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.991;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-0.98;SOR=0.752	GT:AD:DP:GQ:PL	0/1:51,40:91:99:1180,0,1631	9	0	1	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	1219.23	94	chr19	37887093	.	A	G	1219.23	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-4.045;DP=912;ExcessHet=2.8389;FS=220.707;InbreedingCoeff=-0.3793;MLEAC=5;MLEAF=0.278;MQ=60;MQRankSum=0;QD=2.52;ReadPosRankSum=0.746;SOR=9.269	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,27:93:99:0|1:37887093_A_G:430,0,2331:37887093	4	0	5	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.5	1684.09	82	chr19	37887095	.	C	T	1684.09	.	AC=6;AF=0.5;AN=12;BaseQRankSum=-3.008;DP=898;ExcessHet=4.5998;FS=234.958;InbreedingCoeff=-0.6664;MLEAC=8;MLEAF=0.667;MQ=60;MQRankSum=0;QD=2.77;ReadPosRankSum=0.853;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,27:93:99:0|1:37887093_A_G:430,0,2331:37887093	0	0	6	4
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	1987.18	91	chr19	37887096	.	A	G	1987.18	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-4.166;DP=879;ExcessHet=2.8389;FS=279.749;InbreedingCoeff=-0.5261;MLEAC=6;MLEAF=0.429;MQ=60;MQRankSum=0;QD=3.68;ReadPosRankSum=0.833;SOR=9.883	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,27:92:99:0|1:37887093_A_G:433,0,2296:37887093	2	0	5	3
chr19	40617195	40617195	G	A	exonic	LTBP4	.	nonsynonymous SNV	LTBP4:NM_001042545:exon21:c.G3040A:p.E1014K,LTBP4:NM_001042544:exon24:c.G3241A:p.E1081K,LTBP4:NM_003573:exon24:c.G3130A:p.E1044K	Cutis laxa, autosomal recessive, type IC, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	1257542	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.596	.	.	0.00698882	0.0026	0.0001	0.0002	0.0001	0	0	0.0012	0.0186	0.0021992	340	154602	rs541226628	0.0011	0.0011	0.0006	0.0016	0.0177	0.0011	0.0010	0.0170	0.0167	0.0001	2.237e-05	0	7.557e-05	0	0.0003	1.079e-05	0.0012	0.0177	0.0007	0.0007	0.0004	0.0010	0.0215	0.0006	0.0006	0.0182	0.0169	7.213e-05	0	0	0	0.0002	0	0	0	0	0.0215	.	.	.	0.107	0.45961	T	1.0	0.90584	D	0.998	0.88582	D	0.001087	0.40303	N	0.000000	0.980339	0.81001	D	.	.	.	.	.	.	.	.	.	0.74	0.77978	0.699	0.93166	D	0.840	0.94663	D	9	0.011909097	0.00258	T	.	.	.	0.596	0.83965	0.583	0.70990	0.707571196339	0.70502	0.5703692011585406	0.56964	0.895510846688	0.70446	0.666666150093	0.62363	T	0.129047	0.76787	T	0.0537309	0.58821	T	0.31803	0.89008	D	0.0771758010593924	0.09621	T	0.753825	0.46176	T	0.21313031	0.43683	0.24123685	0.49516	0.19511667	0.41288	0.23232652	0.48389	-11.845	0.84087	D	.	.	0.648	0.70840	P	.;.;.	.;.;.	5.269281	0.88479	29.6	0.99916336103374936	0.98449	0.95866	0.66491	D	AEFBI	0.687413	0.64876	D	0.933598305929685	0.93304	11.95268	0.757843225491464	0.86742	8.987668	0.999999695775457	0.74766	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.567892	0.33627	0	.	.	4.19	4.19	0.48645	3.198000	0.50738	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	15.810	0.78327	749	0.51929	EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;EGF-like calcium-binding domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.007576	0.1	2648.14	33	chr19	40617195	.	G	A	2648.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-0.931;DP=474;ExcessHet=0.2348;FS=0.59;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=14.24;ReadPosRankSum=2.06;SOR=0.619	GT:AD:DP:GQ:PL	0/1:44,62:106:99:1535,0,1033	8	0	2	0
chr19	41584430	41584430	C	T	exonic	CEACAM21	.	stopgain	CEACAM21:NM_001098506:exon4:c.C784T:p.R262X,CEACAM21:NM_001290113:exon4:c.C397T:p.R133X,CEACAM21:NM_033543:exon4:c.C781T:p.R261X,CEACAM21:NM_001288773:exon5:c.C400T:p.R134X	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	8.389e-05	0.0002	0	0	0	2.548e-05	0	0.0004	5.17e-05	8	154602	rs568421412	6.465e-05	6.635e-05	4.921e-05	8.028e-05	0.0006	5.39e-05	5.003e-05	0.0004	0.0004	5.999e-05	0	0	0.0002	0	0	3.069e-05	1.663e-05	0.0006	9.198e-05	9.187e-05	7.713e-05	0.0001	0.0008	5.527e-05	4.364e-05	0.0003	0.0002	0.0001	0	6.54e-05	0	0	0	0	4.411e-05	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999986	0.54805	A	.	.	.	.	.	.	.	.	.	0.034	0.00942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0587832	0.59460	T	0.174622	0.81684	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;Tolerant	.;.;High	4.648874	0.74080	26.1	0.93670412390119573	0.23566	0.00125	0.00780	N	AEFBI	0.027050	0.02141	N	-0.264749021892834	0.30519	1.702471	-0.682383687831159	0.17402	0.9251175	9.27357188301096E-5	0.04910	0.706298	0.61202	0	0.709663	0.81188	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	1.16	-0.0482	0.13169	-0.126000	0.10539	-1.639000	0.05008	-3.106000	0.00123	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6024:0.3976:0.0:0.0	3.906	0.08685	839	0.37672	.;.;.	.	.	.	.	.	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	1927.14	35	chr19	41584430	.	C	T	1927.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.74;DP=500;ExcessHet=0.2348;FS=0.54;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=9.49;ReadPosRankSum=-0.702;SOR=0.747	GT:AD:DP:GQ:PL	0/1:57,36:93:99:829,0,1357	8	0	2	0
chr19	43176069	43176069	T	G	exonic	PSG5	.	nonsynonymous SNV	PSG5:NM_001130014:exon3:c.A510C:p.E170D,PSG5:NM_002781:exon3:c.A510C:p.E170D	.	11	1445	66	0	0	66	0.0223275	.	.	.	2340841	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.066	0.000670184073519	.	.	2.475e-05	9.716e-05	0	0	0	3.001e-05	0	0	3.84e-05	1	26028	rs200537553	2.743e-06	0.0003	1.365e-06	4.136e-06	9.005e-07	6.4e-07	4.3e-07	.	.	0	0	0	0	5.652e-05	0	9.005e-07	0	0	2.651e-05	0.0007	3.885e-05	1.358e-05	6.632e-05	8.2e-06	5.18e-06	4.91e-06	1.84e-06	0	0	6.632e-05	0	0	0	0	2.958e-05	0.0005	0	0.826	0.02913	T	0.283	0.21612	T	0.0	0.02946	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.71	0.44315	L	2.67	0.12473	T	-0.85	0.23156	N	0.162	0.25377	-1.0311	0.20099	T	0.038	0.16548	T	9	0.05737266	0.06580	T	6.7E-4	0.00383	T	0.066	0.19193	0.698	0.83499	0.16115917748	0.15686	0.10525158950099638	0.10455	0.0238137571014	0.02414	.	.	.	0.002523	0.01914	T	-0.313722	0.07424	T	-0.688417	0.06481	T	0.120045120196503	0.14434	T	0.564843	0.19943	T	0.06523243	0.13921	0.056585502	0.10137	0.06523243	0.13920	0.056585502	0.10137	-5.305	0.39993	T	.	.	0.203	0.44682	B	.;.;.;.;.	.;.;.;.;.	0.243443	0.06232	2.687	0.96375077285061395	0.29597	0.00284	0.01530	N	AEFI	0.034589	0.04311	N	-0.999019992406806	0.08625	0.4051179	-1.174052176649	0.06346	0.3051872	1.09731146299496E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.23	0.1	0.13817	-0.869000	0.04340	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.3406:0.0:0.6594	2.779	0.05026	798	0.45050	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	938.14	120	chr19	43176069	.	T	G	938.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.891;DP=1745;ExcessHet=0.2348;FS=0.923;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=53.56;MQRankSum=-6.276;QD=1.16;ReadPosRankSum=4.56;SOR=0.78	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,45:439:99:0|1:43176063_C_T:683,0,16108:43176063	8	0	2	0
chr19	45138592	45138592	A	G	exonic	PPP1R37	.	nonsynonymous SNV	PPP1R37:NM_019121:exon2:c.A281G:p.K94R	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.0201002044893	.	0.00119808	0.0029	0	0	0	0	0	0	0.0047	0.0002846	44	154602	rs556098955	0.0004	0.0003	0.0002	0.0005	0.0056	0.0003	0.0003	0.0052	0.0050	0	0	0	0	0	0	1.581e-05	0.0003	0.0056	0.0001	0.0001	9.167e-05	0.0002	0.0046	9.923e-05	8.411e-05	0.0031	0.0026	2.437e-05	0	0	0	0	0	0	0	0	0.0046	0.246	0.17353	T	0.135	0.34124	T	0.473	0.36591	P	0.1	0.30674	B	0.000027	0.55875	D	0.115163	0.996988	0.43549	D	0.69	0.16971	N	0.62	0.53302	T	-1.38	0.34198	N	0.428	0.46742	-1.0872	0.06013	T	0.082	0.32237	T	10	0.009864211	0.00221	T	0.020	0.42623	T	0.097	0.27909	0.295	0.25881	0.241664281697	0.23763	0.3623328137889258	0.36147	.	.	0.488511919975	0.37232	T	0.008333	0.07654	T	-0.426233	0.01562	T	-0.384078	0.35245	T	0.189226498679949	0.19799	T	0.713029	0.32487	T	0.1488567	0.33964	0.1003509	0.23991	0.1488567	0.33964	0.1003509	0.23991	-6.395	0.49471	T	.	.	0.087	0.11269	B	.	.	4.000348	0.58941	24.0	0.99357701882587957	0.60862	0.98617	0.84749	D	AEFDGBI	0.929003	0.91408	D	0.0106329400120594	0.42338	2.549089	0.116088472383014	0.45372	2.801472	0.999966815252751	0.48965	0.741868	0.97996	0	0.633563	0.54681	0	0.774882	0.98623	0	0.613276	0.41899	0	.	.	4.54	3.5	0.39181	6.882000	0.75391	9.213000	0.79249	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.8191:0.1809:0.0:0.0	9.347	0.37276	929	0.16858	.	.	.	.	.	.	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	0.001214	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.1	652.14	35	chr19	45138592	.	A	G	652.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.111;DP=412;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=5.18;ReadPosRankSum=0.309;SOR=0.636	GT:AD:DP:GQ:PL	0/1:45,19:64:99:365,0,1153	8	0	2	0
chr19	45796039	45796039	G	A	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon6:c.C1984T:p.P662S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.271	0.022907408339	.	0.000599042	0.0005	0	8.64e-05	0	0	0	0	0.0037	0.000414	64	154602	rs577242494	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	0	2.237e-05	0	0	0	0	0	0.0001	0.0037	9.203e-05	9.188e-05	2.572e-05	0.0002	0.0029	5.53e-05	4.367e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.03	0.45393	D	0.007	0.69154	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	0.613011	0.32638	D	2.39	0.68882	M	1.75	0.26152	T	-6.37	0.91058	D	0.722	0.74280	-0.6448	0.62940	T	0.155	0.48550	T	10	0.05384752	0.05640	T	0.022907	0.45838	T	0.271	0.58633	0.653	0.79068	0.246773566709	0.24272	0.716266081504198	0.71569	0.478316878913	0.46915	0.49934720993	0.38736	T	0.207589	0.56728	T	-0.401312	0.02270	T	-0.350071	0.39196	T	0.14916477342403	0.17036	T	0.638636	0.25495	T	0.4274042	0.62582	0.4804461	0.69910	0.4274042	0.62582	0.4804461	0.69911	-6.493	0.50232	T	.	.	0.311	0.53838	B	.;.	.;.	4.513395	0.70700	25.6	0.99903144355144935	0.97426	0.95662	0.65626	D	AEFI	0.794929	0.72249	D	0.699307618809292	0.79585	7.109213	0.641185947001469	0.77957	6.78021	0.999999123276188	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.25	4.25	0.49658	6.193000	0.71999	9.627000	0.81118	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	14.616	0.68148	769	0.49307	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	2204.14	33	chr19	45796039	.	G	A	2204.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2;DP=449;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=2.09;SOR=0.674	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1236,0,1116	8	0	2	0
chr19	45815053	45815053	C	T	exonic	RSPH6A	.	nonsynonymous SNV	RSPH6A:NM_030785:exon1:c.G124A:p.E42K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.00678813160548	.	.	0.0001	0	0	0	0	0	0	0.0009	9.7e-05	15	154602	rs779379990	5.817e-05	5.814e-05	3.54e-05	8.116e-05	0.0009	4.811e-05	4.433e-05	0.0008	0.0007	0	0	0	0	3.781e-05	0	0	3.312e-05	0.0009	1.314e-05	1.313e-05	0	2.69e-05	0.0004	2.18e-06	8.2e-07	7.279e-05	3.025e-05	0	0	0	0	0	0	0	0	0	0.0004	0.039	0.42487	D	0.452	0.16280	T	0.421	0.35387	B	0.055	0.25995	B	0.002003	0.00849	N	3.707800	1	0.08975	N	0.975	0.24501	L	2.38	0.19860	T	-0.76	0.21215	N	0.265	0.33904	-1.0284	0.20973	T	0.029	0.12453	T	10	0.017505616	0.00374	T	0.006788	0.17953	T	0.041	0.10877	0.145	0.04843	0.115124310173	0.11017	0.27755270705073937	0.27668	0.114985143858	0.12974	0.442571520805	0.30929	T	0.018614	0.14973	T	-0.554336	0.00275	T	-0.60442	0.12442	T	0.0553966191110962	0.06423	T	0.650635	0.26150	T	0.054562982	0.10487	0.0848366	0.19544	0.054562982	0.10486	0.0848366	0.19544	-5.201	0.38952	T	.	.	0.095	0.23325	B	.;.	.;.	1.819098	0.23114	15.89	0.99366227593854295	0.61240	0.12132	0.17079	N	AEFDBCI	0.067628	0.13304	N	-0.762410070206934	0.14298	0.7111056	-0.835302361159191	0.13641	0.7087477	0.99997156411594	0.50053	0.421363	0.06395	0	0.550933	0.16991	0	0.179345	0.04352	3	0.554799	0.18163	0	.	.	3.94	1.74	0.23636	1.500000	0.35290	0.782000	0.21490	0.599000	0.40250	0.010000	0.18352	0.001000	0.17328	0.126000	0.19410	0.238:0.6386:0.0:0.1234	3.998	0.09056	814	0.42100	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1	1762.14	35	chr19	45815053	.	C	T	1762.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.435;DP=449;ExcessHet=0.2348;FS=1.235;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=10.88;ReadPosRankSum=0.534;SOR=0.574	GT:AD:DP:GQ:PL	0/1:36,35:71:99:831,0,914	8	0	2	0
chr19	48703674	48703674	G	A	exonic	FUT2	.	nonsynonymous SNV	FUT2:NM_000511:exon2:c.G718A:p.V240M,FUT2:NM_001097638:exon2:c.G718A:p.V240M	.	408	1113	1	0	0	1	0.000449035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.658	0.152824151099	0.0002	0.00119808	0.0010	0	0.0002	0.0001	0	1.5e-05	0	0.0068	0.0008215	127	154602	rs375360260	0.0004	0.0004	0.0002	0.0006	0.0062	0.0004	0.0004	0.0057	0.0056	0	6.708e-05	0	2.52e-05	0	0.0005	4.676e-05	0.0007	0.0062	0.0002	0.0002	7.712e-05	0.0003	0.0063	0.0001	0.0001	0.0046	0.0040	0	0	0	0	0	0	0	1.47e-05	0	0.0063	0.001	0.78490	D	0.006	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	0.706334	0.33473	D	3.005	0.85968	M	-4.32	0.97218	D	-2.55	0.55181	D	0.566	0.58968	1.116	0.99894	D	0.935	0.97876	D	8	0.019301653	0.00429	T	0.152824	0.83418	D	0.658	0.87184	.	.	0.985653670733	0.98550	0.5706347204740276	0.56991	0.727271124552	0.62562	0.589356601238	0.51403	T	0.206651	0.56606	T	0.17117	0.71230	D	0.205069	0.83401	D	0.151803081501774	0.17246	T	0.968903	0.88767	D	0.5254448	0.68571	0.6236554	0.78068	0.53149617	0.68917	0.55897135	0.74486	-6.583	0.50923	T	.	.	0.391	0.59915	A	.;.	.;.	4.577262	0.72268	25.8	0.99841667262069855	0.92229	0.78778	0.38919	D	AEFGBI	0.373145	0.45852	N	0.441996171182935	0.63749	4.614874	0.314404183972094	0.56386	3.801801	0.970591819348323	0.29219	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	5.16	4.09	0.47038	4.289000	0.58806	6.770000	0.56558	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.692000	0.33898	0.09:0.0:0.7318:0.1782	6.741	0.22621	878	0.29785	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001008	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.05	2672.43	35	chr19	48703674	.	G	A	2672.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.037;DP=874;ExcessHet=0;FS=1.835;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=0.182;SOR=0.557	GT:AD:DP:GQ:PL	0/1:86,106:192:99:2684,0,2064	9	0	1	0
chr19	49417172	49417172	G	A	exonic	KASH5	.	nonsynonymous SNV	KASH5:NM_144688:exon19:c.G1453A:p.E485K	.	426	1066	30	0	0	30	0.013876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00640059775023	0.0002	0.000399361	0.0012	0.0001	0.0037	0	0	0.0003	0.0049	0.0049	0.0009379	145	154602	rs201622869	0.0005	0.0005	0.0003	0.0007	0.0063	0.0005	0.0004	0.0046	0.0041	5.974e-05	0.0020	0	2.519e-05	0	0.0063	0.0001	0.0008	0.0046	0.0003	0.0003	0.0003	0.0003	0.0031	0.0002	0.0002	0.0019	0.0015	4.811e-05	0	0.0003	0	0	0	0.0068	0.0003	0.0005	0.0031	0.105	0.29823	T	0.103	0.38305	T	0.027	0.19556	B	0.017	0.18140	B	0.096214	0.02504	N	2.057350	1	0.08975	N	.	.	.	1.4	0.33630	T	-0.82	0.22508	N	0.119	0.10911	-1.0236	0.22541	T	0.096	0.36133	T	10	0.004294127	0.00086	T	0.006401	0.16841	T	0.016	0.02506	.	.	0.272639205421	0.26888	0.31387674367805546	0.31300	0.189435828692	0.21264	0.384228229523	0.22854	T	0.027182	0.19962	T	-0.626133	0.00101	T	-0.671907	0.07487	T	0.00689805907607765	0.00078	T	0.545245	0.18642	T	0.052053366	0.09652	0.04890713	0.07364	0.052053366	0.09651	0.04890713	0.07364	-4.057	0.24654	T	.	.	0.112	0.22024	B	.	.	0.641357	0.10099	6.845	0.89207228624722734	0.18600	0.03502	0.08676	N	AEFDBHCI	0.034679	0.04338	N	-0.884965404244193	0.11199	0.539188	-1.00257850412567	0.09728	0.4856888	0.926450152088173	0.26852	0.525926	0.21836	0	0.615948	0.52940	0	0.600433	0.31921	0	0.530356	0.10902	0	.	.	2.94	0.652	0.16995	-0.228000	0.09119	1.951000	0.29885	0.670000	0.69193	0.000000	0.06391	0.472000	0.25058	0.296000	0.24405	0.3184:0.0:0.6816:0.0	4.945	0.13338	856	0.34373	.	.	.	.	.	.	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	0.007049	0.000000	0.001359	0.008772	0.000000	0.008621	0.018293	0.015152	0.05	1307.43	34	chr19	49417172	.	G	A	1307.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.492;DP=394;ExcessHet=0;FS=1.805;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.03;ReadPosRankSum=-0.652;SOR=0.705	GT:AD:DP:GQ:PL	0/1:32,55:87:99:1319,0,672	9	0	1	0
chr19	51027466	51027466	T	C	exonic	KLK11	.	nonsynonymous SNV	KLK11:NM_144947:exon1:c.A52G:p.T18A	.	410	1111	1	0	0	1	0.000449843	.	.	.	2239513	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.161	0.0280285906316	.	.	0.0002	0	0.0002	0	0	0.0003	0.0011	6.058e-05	0.000194	30	154602	rs372936267	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0006	0.0005	0.0008	0.0002	0.0039	0	0	0.0009	4.68e-05	0.0005	6.957e-05	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	4.765e-05	3.339e-05	9.62e-05	0	0.0001	0.0043	0	0	0.0034	0.0001	0.0005	0	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-2.3	0.87671	D	.	.	.	0.07	0.04307	-0.8517	0.51850	T	0.243	0.61131	T	9	0.0067301095	0.00153	T	0.028029	0.50763	D	.	.	.	.	0.554640639675	0.55122	0.3093030113148603	0.30843	0.0823916925326	0.09297	.	.	.	0.001326	0.00800	T	-0.368242	0.03684	T	-0.473244	0.25167	T	0.00645530221249256	0.00072	T	0.225377	0.02951	T	0.02749089	0.01947	0.031440496	0.01734	0.02749089	0.01947	0.031440496	0.01734	-2.307	0.04593	T	.	.	0.057	0.00583	B	.	.	0.803983	0.11749	8.323	0.39615928335889122	0.02744	0.01233	0.04359	N	AEFDBI	0.050643	0.08872	N	-1.68206516820955	0.00907	0.03927055	-1.70057515490452	0.01135	0.05102804	0.409417816720503	0.20199	0.615755	0.39536	0	0.59043	0.45803	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	2.39	-1.8	0.07480	-0.096000	0.11027	-1.102000	0.06325	-0.983000	0.01888	0.002000	0.15269	0.000000	0.08366	0.031000	0.13245	0.0:0.1485:0.2612:0.5903	4.219	0.10006	929	0.16858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	997.43	33	chr19	51027466	.	T	C	997.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.365;DP=463;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=-2.139;SOR=0.69	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1009,0,1266	9	0	1	0
chr19	51079638	51079638	G	A	exonic	KLK14	.	nonsynonymous SNV	KLK14:NM_001369775:exon4:c.C277T:p.R93C,KLK14:NM_001311182:exon5:c.C277T:p.R93C,KLK14:NM_022046:exon5:c.C277T:p.R93C	.	421	1089	11	1	0	13	0.00593336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	.	0.0071	0.00838658	0.0072	0.0246	0.0086	0	0.0025	0.0058	0.0115	0.0062	0.0043014	665	154602	rs112145183	0.0029	0.0030	0.0028	0.0031	0.0190	0.0029	0.0028	0.0178	0.0173	0.0190	0.0043	0.0032	5.088e-05	0.0020	0.0063	0.0023	0.0049	0.0044	0.0074	0.0074	0.0076	0.0072	0.0171	0.0070	0.0069	0.0160	0.0156	0.0171	0	0.0049	0.0035	0	0.0013	0.0137	0.0040	0.0095	0.0027	0.026	0.46910	D	0.043	0.49942	D	0.999	0.77913	D	0.93	0.66466	D	.	.	.	.	0.642493	0.32889	D	1.54	0.38927	L	-2.44	0.88767	D	-3.59	0.69236	D	0.268	0.30347	-0.0050	0.82153	T	0.368	0.72826	T	9	0.01293987	0.00276	T	.	.	.	0.422	0.73078	.	.	0.902430433393	0.90145	0.7780944457754915	0.77759	0.689168275035	0.60470	0.391560435295	0.23890	T	0.533063	0.83876	D	-0.381316	0.03057	T	-0.305574	0.44132	T	0.0382964345424098	0.03384	T	0.708829	0.31953	T	0.35127887	0.57166	0.32171455	0.58117	0.35127887	0.57166	0.32171455	0.58116	-9.514	0.70946	D	.	.	0.689	0.72503	P	.;.;.	.;.;.	4.780459	0.77484	26.7	0.99889421025040326	0.96359	0.09365	0.15136	N	AEFDBCI	0.086503	0.17538	N	0.104245408592214	0.46660	2.903034	-0.0434936137331627	0.37772	2.216228	6.39416331259149E-4	0.07505	0.553676	0.25195	0	0.588015	0.36545	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.04	0.235	0.14697	-0.255000	0.08789	.	.	0.616000	0.49467	0.000000	0.06391	0.966000	0.29516	0.951000	0.49849	0.1652:0.1632:0.3398:0.3319	1.055	0.01489	958	0.09170	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	0.021191	0.061224	0.027174	0.002924	0.000000	0.025862	0.003049	0.003788	0.05	1178.43	34	chr19	51079638	.	G	A	1178.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.266;DP=449;ExcessHet=0;FS=0.656;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9;ReadPosRankSum=1.77;SOR=0.603	GT:AD:DP:GQ:PL	0/1:74,57:131:99:1190,0,1734	9	0	1	0
chr19	52115218	52115218	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1946A:p.R649K	.	409	1081	30	2	0	34	0.0154827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0044	0.00419329	0.0049	0.0011	0.0039	0	0.0002	0.0062	0.0088	0.0068	0.0047541	735	154602	rs45622033	0.0057	0.0057	0.0057	0.0058	0.0130	0.0056	0.0056	0.0106	0.0098	0.0007	0.0049	0.0051	0	0.0004	0.0130	0.0063	0.0057	0.0068	0.0042	0.0042	0.0043	0.0041	0.0065	0.0039	0.0038	0.0060	0.0058	0.0008	0	0.0060	0.0046	0	0.0006	0.0204	0.0065	0.0071	0.0064	.	.	.	0.531	0.10069	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.425	0.12573	N	3.22	0.07024	T	.	.	.	0.056	0.02759	-1.0327	0.19586	T	0.023	0.09878	T	8	0.004916489	0.00105	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.03217921690351515	0.03165	0.0669319524144	0.07465	0.216768398881	0.01132	T	8.08E-4	0.00390	T	-0.771328	0.00013	T	-0.876731	0.00682	T	0.00221911122000697	0.00023	T	0.80082	0.44648	T	0.032995433	0.03432	0.04251082	0.05079	0.032995433	0.03432	0.04251082	0.05079	-6.572	0.50839	T	.	.	0.156	0.34536	B	.	.	-0.419110	0.02142	0.206	0.80935089646853298	0.13440	0.00002	0.00064	N	AEFBHCI	0.025855	0.01841	N	-1.6336972419401	0.01105	0.04799848	-1.73896296541276	0.00975	0.04369867	0.0330489298285474	0.14086	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	1.93	-3.85	0.03964	-4.150000	0.00323	.	.	-0.515000	0.04990	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.319:0.2971:0.3839:0.0	5.340	0.15282	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.010101	0.017663	0.011696	0.000000	0.017241	0.009146	0.011364	0.1	1706.14	35	chr19	52115218	.	C	T	1706.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.73;DP=467;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=8.98;ReadPosRankSum=-0.135;SOR=0.651	GT:AD:DP:GQ:PL	0/1:68,27:95:99:622,0,1903	8	0	2	0
chr19	52384824	52384824	-	GGTC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1244_1245insGGTC:p.A416Vfs*4	.	460	995	45	1	21	68	0.0230731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0078	0.0057	0.0055	0.0061	0.0135	0.0084	0.0078	0.0072	3.84e-05	1	26028	rs752060609	4.129e-05	0.0002	3.922e-05	4.339e-05	0.0029	3.13e-05	2.787e-05	0.0016	0.0013	3.986e-05	0	0	0	0.0002	0.0029	2.828e-05	0	3.396e-05	0.0012	0.0055	0.0012	0.0011	0.0023	0.0010	0.0009	0.0011	0.0010	0.0007	0	0.0015	0	0.0014	0.0006	0	0.0014	0.0031	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	263.42	68	chr19	52384824	.	A	AGGTC	263.42	.	AC=1;AF=0.083;AN=12;BaseQRankSum=4.2;DP=562;ExcessHet=0;FS=22.615;InbreedingCoeff=-0.1765;MLEAC=1;MLEAF=0.083;MQ=59.84;MQRankSum=0.456;QD=3.56;ReadPosRankSum=-3.61;SOR=4.424	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,11:74:99:1|0:52384795_G_A:272,0,2593:52384795	5	0	1	4
chr19	52384826	52384826	-	GAGATCGAGAC	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1246_1247insGAGATCGAGAC:p.A416Gfs*17	.	475	1021	5	0	21	26	0.0024426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0083	0.0059	0.0058	0.0065	0.0145	0.0089	0.0081	0.0077	3.84e-05	1	26028	rs754636078	3.296e-05	0.0002	2.99e-05	3.603e-05	0.0022	2.35e-05	2.067e-05	0.0011	0.0008	4.215e-05	0	0	0	0.0002	0.0022	2.111e-05	0	3.582e-05	0.0008	0.0051	0.0010	0.0007	0.0017	0.0007	0.0006	0.0007	0.0006	0.0006	0	0.0012	0	0.0014	0	0	0.0009	0.0030	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	265.94	68	chr19	52384826	.	G	GGAGATCGAGAC	265.94	.	AC=1;AF=0.083;AN=12;BaseQRankSum=1.11;DP=561;ExcessHet=0.2348;FS=29.038;InbreedingCoeff=-0.25;MLEAC=1;MLEAF=0.083;MQ=59.11;MQRankSum=0.445;QD=2.05;ReadPosRankSum=-3.35;SOR=4.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,10:71:99:1|0:52384795_G_A:236,0,2512:52384795	5	0	1	4
chr19	53353432	53353433	GT	-	exonic	ZNF845	.	frameshift deletion	ZNF845:NM_138374:exon4:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321522:exon5:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321523:exon5:c.2757_2758del:p.C920Wfs*14,ZNF845:NM_001321524:exon5:c.2757_2758del:p.C920Wfs*14	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0002	0	0	0.0002	0	0.0015	0.0002329	36	154602	rs779634863	0.0001	0.0001	8.441e-05	0.0002	0.0013	0.0001	0.0001	0.0011	0.0010	0	2.237e-05	0.0014	0	0	0.0007	2.248e-05	0.0003	0.0013	9.196e-05	9.187e-05	7.713e-05	0.0001	0.0015	5.526e-05	4.363e-05	0.0007	0.0005	0	0	0	0.0009	0	0	0	4.411e-05	0.0005	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001057	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.05	1814.39	37	chr19	53353431	.	AGT	A	1814.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.555;DP=490;ExcessHet=0;FS=0.7;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.51;ReadPosRankSum=0.088;SOR=0.588	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1826,0,2634	9	0	1	0
chr19	53890002	53890002	G	A	exonic	PRKCG	.	nonsynonymous SNV	PRKCG:NM_001316329:exon5:c.G514A:p.E172K,PRKCG:NM_002739:exon5:c.G514A:p.E172K	Spinocerebellar ataxia 14, Autosomal dominant	5	1514	3	0	0	3	0.000989772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.127978717015	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1443767012	5.657e-06	5.472e-06	2.798e-06	8.579e-06	0.0004	2.43e-06	1.76e-06	7.878e-05	3.21e-05	0	0	0	0	0	0.0004	0	3.419e-05	4.969e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.995722	0.42826	D	-0.48	0.02689	N	-0.94	0.75325	T	0.31	0.04022	N	0.178	0.19190	-1.0376	0.18048	T	0.041	0.17446	T	8	0.14105639	0.26806	T	0.127979	0.80986	D	0.110	0.31079	0.534	0.64293	0.738385687522	0.73604	0.6790032872285526	0.67839	1.5806642636	0.88385	0.761054813862	0.76085	T	0.175726	0.52541	T	-0.0221309	0.48548	T	-0.269566	0.47862	T	0.14738835874272	0.16894	T	0.59614	0.40460	T	0.2094736	0.43216	0.14154191	0.33703	0.2094736	0.43215	0.14154191	0.33702	-2.479	0.05640	T	0.06574076316535618	0.02191	0.133	0.28835	B	.;.	.;.	2.730534	0.35742	19.98	0.81435273496656857	0.13684	0.50257	0.28621	D	ALL	0.500656	0.53382	D	-0.359755500768041	0.26916	1.472695	-0.172676474489549	0.32546	1.85269	0.999999999999972	0.74766	0.72623	0.87236	0	0.578056	0.33634	0	0.594344	0.31042	0	0.553173	0.17726	1	.	.	4.75	4.75	0.59954	1.937000	0.39821	.	.	0.672000	0.70159	0.987000	0.36337	1.000000	0.68203	0.187000	0.21511	0.0:0.0:1.0:0.0	15.637	0.76716	994	0.00715	C2 domain;C2 domain|C2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	483.43	33	chr19	53890002	.	G	A	483.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-3.154;DP=368;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=-1.15;SOR=0.77	GT:AD:DP:GQ:PL	0/1:26,25:51:99:495,0,682	9	0	1	0
chr19	54729493	54729493	G	A	exonic	KIR3DL3	.	nonsynonymous SNV	KIR3DL3:NM_153443:exon5:c.G656A:p.G219D	.	422	1073	25	2	0	29	0.0133333	0.0157	0.208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00113306265672	.	.	.	.	.	.	.	.	.	.	0.0002199	34	154602	rs764066889	0.0017	0.0017	0.0017	0.0018	0.0218	0.0017	0.0016	0.0187	0.0175	0.0009	0.0021	0.0134	0	0	0.0218	0.0015	0.0028	0.0007	0.0016	0.0016	0.0016	0.0016	0.0027	0.0015	0.0014	0.0020	0.0018	0.0005	0	0.0027	0.0136	0	0	0.0312	0.0016	0.0070	0.0004	0.004	0.65419	D	0.001	0.83351	D	.	.	.	.	.	.	0.189329	0.16889	U	0.338725	0.999997	0.08975	N	.	.	.	5.22	0.01150	T	-5.43	0.85323	D	0.221	0.24758	-1.0618	0.11312	T	0.014	0.05705	T	9	0.09719387	0.17486	T	0.001133	0.01385	T	0.064	0.18567	0.737	0.86978	0.501484525772	0.49784	0.191655246118269	0.19083	4.01563215202	0.99884	0.487657159567	0.37114	T	.	.	.	-0.144822	0.29125	T	-0.445803	0.28160	T	0.895166993141174	0.54667	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.467	0.63028	A	.	.	2.524135	0.32625	19.10	0.99519703192959086	0.69161	0.03114	0.08053	N	AEFBI	0.050332	0.08785	N	-0.171640536624951	0.34319	1.95742	-0.493388739204565	0.22335	1.212629	4.23643939921456E-6	0.01202	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.37	1.37	0.21200	1.483000	0.35105	.	.	0.418000	0.20770	0.020000	0.19661	0.000000	0.08366	0.010000	0.09038	0.0:0.0:1.0:0.0	6.108	0.19305	952	0.10565	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	5199.14	302	chr19	54729493	.	G	A	5199.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.189;DP=2321;ExcessHet=0.2348;FS=1.112;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=59.98;MQRankSum=1.15;QD=11.79;ReadPosRankSum=0.36;SOR=0.606	GT:AD:DP:GQ:PL	0/1:90,117:207:99:2767,0,2179	8	0	2	0
chr19	54752378	54752378	A	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.A885T:p.E295D	.	438	644	313	127	0	567	0.30566	.	.	.	4025410	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.053	0.000595427967978	.	.	.	.	.	.	.	.	.	.	0.0002689	7	26028	rs76449138	0.0004	0.0045	0.0003	0.0006	0.0014	0.0004	0.0004	0.0012	0.0011	0.0009	0.0007	0.0004	0.0002	0.0006	0	0.0003	0.0006	0.0014	0.0004	0.0045	0.0004	0.0003	0.0008	0.0003	0.0003	0.0006	0.0005	0.0008	0	0.0004	0.0003	0	0.0003	0	0.0002	0	0.0006	0.017	0.51248	D	0.362	0.16865	T	0.009	0.15093	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	1.605	0.40863	L	7.17	0.00438	T	-1.3	0.32590	N	0.03	0.00717	-0.9072	0.47191	T	0.003	0.00800	T	9	0.06407854	0.08444	T	5.95E-4	0.00260	T	0.053	0.14996	0.345	0.33950	0.315609569513	0.31162	0.055351736594923893	0.05476	0.156621518827	0.17680	.	.	.	0.006609	0.06037	T	-0.243919	0.14853	T	-0.588149	0.13826	T	0.1719860881567	0.18714	T	.	.	.	0.072928816	0.16260	0.055293426	0.09672	0.072928816	0.16260	0.055293426	0.09672	-5.957	0.45918	T	.	.	0.102	0.17785	B	.	.	0.393611	0.07651	4.319	0.83992659330197972	0.15036	0.00398	0.01994	N	AEFI	0.034546	0.04300	N	-1.14210111889885	0.05910	0.2707387	-1.35039455156555	0.03801	0.1780508	3.36295698448585E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-1.94	0.07158	0.608000	0.23921	.	.	0.538000	0.25075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3959:0.0:0.0:0.6041	4.008	0.09100	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.35	13352.9	36	chr19	54752378	.	A	T	13352.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-3.661;DP=2061;ExcessHet=0.0952;FS=1.132;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=54.42;MQRankSum=-18.14;QD=9.48;ReadPosRankSum=2.33;SOR=0.595	GT:AD:DP:GQ:PL	0/1:168,70:238:99:1118,0,4587	5	2	3	0
chr19	54752434	54752434	G	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G941C:p.R314T	.	440	676	290	116	0	522	0.278549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000504783109797	.	.	9.107e-06	0	0	0	0	1.648e-05	0	0	0	0	26028	rs369659451	0.0001	0.0011	8.786e-05	0.0001	0.0006	0.0001	9.738e-05	0.0005	0.0004	0.0003	0.0001	0	0	0.0002	0.0002	8.061e-05	0.0001	0.0006	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.005	0.63226	D	0.336	0.18232	T	0.038	0.21002	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	2.005	0.54552	M	7.21	0.00433	T	-1.76	0.41618	N	0.15	0.15328	-0.9578	0.39589	T	0.001	0.00438	T	9	0.055743694	0.06139	T	5.05E-4	0.00153	T	0.018	0.03083	0.358	0.36060	0.197625483188	0.19356	0.07934385317345088	0.07869	0.381999604534	0.39540	.	.	.	0.008653	0.07927	T	-0.372433	0.03472	T	-0.772751	0.02679	T	0.0711279924993857	0.08808	T	.	.	.	0.058790613	0.11869	0.056505527	0.10109	0.058790613	0.11869	0.056505527	0.10109	-8.83	0.66596	D	.	.	0.103	0.18456	B	.	.	-0.693291	0.01336	0.074	0.50922294396745071	0.04470	0.00271	0.01473	N	AEFI	0.037209	0.05083	N	-1.83575514742651	0.00463	0.01994319	-2.00237195100838	0.00303	0.01337074	0.00114747052574219	0.08272	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.06	-2.12	0.06766	-2.589000	0.00974	.	.	-2.077000	0.00405	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2846:0.2349:0.4805:0.0	4.380	0.10722	970	0.06235	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	15224.9	36	chr19	54752434	.	G	C	15224.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-2.173;DP=2440;ExcessHet=0.0952;FS=14.799;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.51;MQRankSum=-21.06;QD=8.6;ReadPosRankSum=0.272;SOR=1.201	GT:AD:DP:GQ:PL	0/1:259,68:327:99:1894,0,6800	5	2	3	0
chr19	54752445	54752445	C	T	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.C952T:p.R318C	.	444	649	317	112	0	541	0.294182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000730226801608	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372921221	7.35e-05	0.0008	5.213e-05	9.518e-05	0.0004	6.171e-05	5.67e-05	0.0003	0.0002	0.0004	0.0001	4.416e-05	2.548e-05	0.0001	0	4.228e-05	3.658e-05	0.0004	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.021	0.49117	D	0.101	0.38596	T	0.006	0.13644	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.14	0.00441	T	-1.73	0.41046	N	0.081	0.05670	-0.9462	0.41615	T	0.001	0.00318	T	9	0.07376027	0.11187	T	7.3E-4	0.00491	T	0.046	0.12618	.	.	0.190952846119	0.18690	0.08507494458604588	0.08441	0.272347824251	0.29747	.	.	.	0.006919	0.06344	T	-0.301136	0.08553	T	-0.670337	0.07586	T	0.0816786993696317	0.10202	T	.	.	.	0.06286794	0.13178	0.048082765	0.07066	0.06286794	0.13177	0.048082765	0.07066	-8.692	0.65693	D	.	.	0.085	0.10159	B	.	.	0.663279	0.10314	7.048	0.77161828724750081	0.11761	0.00606	0.02697	N	AEFI	0.056180	0.10365	N	-1.90787109037655	0.00331	0.01420744	-2.03030551184277	0.00264	0.01165071	5.65618134037242E-5	0.04171	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-1.82	0.07433	-0.238000	0.08995	.	.	-1.505000	0.01024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2329:0.4799:0.2873:0.0	4.091	0.09446	970	0.06235	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.35	20676.9	36	chr19	54752445	.	C	T	20676.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.537;DP=2468;ExcessHet=0.0952;FS=18.645;InbreedingCoeff=0.3407;MLEAC=7;MLEAF=0.35;MQ=55.72;MQRankSum=-21.3;QD=11.38;ReadPosRankSum=-0.49;SOR=1.517	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:281,64:345:99:0|1:54752445_C_T:1842,0,11437:54752445	5	2	3	0
chr19	54752485	54752485	T	C	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.T992C:p.I331T	.	458	776	181	107	0	395	0.202876	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000598353408358	.	.	.	.	.	.	.	.	.	.	.	.	.	rs781524573	5.305e-06	0.0001	4.511e-06	6.112e-06	2.86e-05	2.21e-06	1.42e-06	4.75e-06	1.78e-06	0	0	0	0	5.995e-05	0	1.979e-06	0	2.86e-05	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.744	0.03653	T	0.196	0.27943	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.075	0.27130	L	7.07	0.00449	T	1.38	0.00857	N	0.023	0.00407	-0.9420	0.42298	T	0.001	0.00318	T	9	0.04724872	0.04019	T	5.98E-4	0.00274	T	0.014	0.01968	0.471	0.54537	0.15556083564	0.15200	0.03272981040342714	0.03220	0.11650274929	0.13144	.	.	.	0.002103	0.01509	T	-0.435909	0.01367	T	-0.863929	0.00802	T	0.0462318255409502	0.04826	T	.	.	.	0.029743398	0.02519	0.04760247	0.06891	0.029743398	0.02518	0.04760247	0.06890	-0.729	0.00744	T	.	.	0.056	0.00487	B	.	.	-0.452449	0.02024	0.181	0.28219194255820729	0.01438	0.00196	0.01131	N	AEFI	0.020637	0.00835	N	-1.78857713604755	0.00574	0.02471146	-1.87148925175353	0.00557	0.02469536	2.05976653641204E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.909	-0.268	0.12295	-0.692000	0.05228	.	.	-3.068000	0.00129	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3083:0.394:0.2977	3.096	0.05931	970	0.06235	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	11914.1	36	chr19	54752485	.	T	C	11914.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.66;DP=971;ExcessHet=0;FS=49.012;InbreedingCoeff=0.7333;MLEAC=5;MLEAF=0.25;MQ=50.72;MQRankSum=-17.83;QD=19.86;ReadPosRankSum=-4.048;SOR=2.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,39:345:99:0|1:54752482_T_C:717,0,12622:54752482	7	2	1	0
chr19	54760643	54760643	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	697	407	0	0	407	0.225986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259531898	0.0011	0.0091	0.0010	0.0012	0.0039	0.0011	0.0010	0.0035	0.0034	0.0015	0.0031	0.0054	0.0008	0.0008	0.0022	0.0007	0.0013	0.0039	0.0012	0.0099	0.0011	0.0014	0.0034	0.0011	0.0010	0.0020	0.0016	0.0020	0	0.0023	0.0020	0.0008	0.0010	0.0036	0.0005	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	6634.15	40	chr19	54760643	.	A	G	6634.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-3.84;DP=2035;ExcessHet=2.8389;FS=3.768;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=52.78;MQRankSum=-8.43;QD=3.78;ReadPosRankSum=-0.638;SOR=0.483	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,29:317:99:0|1:54760643_A_G:351,0,11883:54760643	5	0	5	0
chr19	54760651	54760651	G	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	415	680	427	0	0	427	0.238948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1341664073	1.26e-05	0.0001	6.969e-06	1.828e-05	0.0002	7.87e-06	6.5e-06	7.234e-05	5.562e-05	0.0002	2.285e-05	0	0	0	0	9.212e-07	0	0.0001	2.732e-05	0.0006	1.334e-05	4.198e-05	0.0001	8.38e-06	5.3e-06	3.332e-05	1.97e-05	0.0001	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	.	.	.	.	.	.	.	.	0.25	7734.15	40	chr19	54760651	.	G	C	7734.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.862;DP=2076;ExcessHet=2.8389;FS=1.571;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.18;MQRankSum=-8.828;QD=4.28;ReadPosRankSum=0.57;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,31:326:99:0|1:54760643_A_G:414,0,12253:54760643	5	0	5	0
chr19	54760659	54760659	G	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	417	909	196	0	0	196	0.0973188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs57865271	1.259e-05	2.057e-05	1.532e-05	9.832e-06	3.033e-05	7.87e-06	6.49e-06	3.9e-06	2.82e-06	3.033e-05	2.283e-05	0	0	0	0	8.284e-06	0.0001	1.176e-05	4.775e-05	8.644e-05	3.992e-05	5.599e-05	0.0003	2.182e-05	1.574e-05	9.529e-05	5.69e-05	2.488e-05	0	0.0003	0	0	0	0	3.045e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	5155.45	40	chr19	54760659	.	G	A	5155.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-3.195;DP=2068;ExcessHet=0.7463;FS=1.6;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=53.42;MQRankSum=-9.151;QD=4.06;ReadPosRankSum=1.15;SOR=0.533	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,31:331:99:0|1:54760643_A_G:399,0,12504:54760643	7	0	3	0
chr19	54760665	54760665	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	418	625	479	0	0	479	0.277039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1162810689	1.118e-05	5.691e-05	8.35e-06	1.404e-05	0.0002	6.62e-06	5.36e-06	0.0001	8.77e-05	0	2.281e-05	0	0	0	0	0	0	0.0002	0	7.312e-05	0	0	.	0	0	.	.	0	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	.	.	.	.	.	.	.	.	0.25	9106.15	40	chr19	54760665	.	T	C	9106.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.066;DP=2055;ExcessHet=2.8389;FS=1.509;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=53.84;MQRankSum=-9.565;QD=5.11;ReadPosRankSum=1.84;SOR=0.553	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:287,31:318:99:0|1:54760643_A_G:438,0,11958:54760643	5	0	5	0
chr19	54760676	54760676	T	A	exonic	LOC112267881	.	unknown	UNKNOWN	.	427	600	495	0	0	495	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252325157	1.398e-05	8.023e-05	9.746e-06	1.826e-05	0.0002	9.13e-06	7.42e-06	0.0001	0.0001	0	2.283e-05	0	0	0	0	0	1.692e-05	0.0002	0	7.986e-05	0	0	.	0	0	.	.	0	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	.	.	.	.	.	.	.	.	0.25	9167.15	40	chr19	54760676	.	T	A	9167.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-5.168;DP=2031;ExcessHet=2.8389;FS=1.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=54.64;MQRankSum=-10.59;QD=5.2;ReadPosRankSum=3.64;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:282,31:313:99:0|1:54760643_A_G:453,0,11748:54760643	5	0	5	0
chr19	54760692	54760692	A	G	exonic	LOC112267881	.	unknown	UNKNOWN	.	419	580	521	2	0	525	0.311573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1411892976	4.767e-05	0.0002	3.349e-05	6.197e-05	0.0006	3.82e-05	3.496e-05	0.0004	0.0004	0	2.29e-05	0	0	0	0.0002	1.384e-05	6.786e-05	0.0006	0	9.992e-05	0	0	.	0	0	.	.	0	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	.	.	.	.	.	.	.	.	0.25	9455.15	40	chr19	54760692	.	A	G	9455.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.915;DP=1868;ExcessHet=2.8389;FS=2.358;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.24;MQRankSum=-11.98;QD=5.68;ReadPosRankSum=4.04;SOR=0.477	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,31:294:99:0|1:54760643_A_G:510,0,10950:54760643	5	0	5	0
chr19	54760695	54760695	T	C	exonic	LOC112267881	.	unknown	UNKNOWN	.	420	579	521	2	0	525	0.311943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406047822	3.998e-05	0.0001	2.094e-05	5.918e-05	0.0006	3.124e-05	2.853e-05	0.0005	0.0004	0	2.291e-05	0	0	0	0	0	5.092e-05	0.0006	0	9.996e-05	0	0	.	0	0	.	.	0	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	.	.	.	.	.	.	.	.	0.25	9560.15	40	chr19	54760695	.	T	C	9560.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.898;DP=1846;ExcessHet=2.8389;FS=3.299;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.33;MQRankSum=-12.2;QD=5.86;ReadPosRankSum=3.72;SOR=0.469	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:258,31:289:99:0|1:54760643_A_G:525,0,10700:54760643	5	0	5	0
chr19	54766501	54766501	T	-	exonic	KIR2DL1;LOC112267881	.	frameshift deletion	KIR2DL1:NM_014218:exon6:c.740delT:p.L247fs	.	419	1086	13	4	0	21	0.00957592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs543833510	0.0008	0.0008	0.0007	0.0009	0.0175	0.0008	0.0008	0.0147	0.0136	0.0006	0.0009	0.0131	0	0	0.0175	0.0005	0.0018	0.0007	0.0010	0.0010	0.0009	0.0012	0.0021	0.0009	0.0009	0.0015	0.0013	0.0002	0	0.0021	0.0136	0	0	0.0210	0.0009	0.0030	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	6043.13	34	chr19	54766500	.	CT	C	6043.13	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.271;DP=907;ExcessHet=0.2348;FS=1.753;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=59.87;MQRankSum=0.985;QD=12.67;ReadPosRankSum=-0.347;SOR=0.553	GT:AD:DP:GQ:PL	0/1:95,125:220:99:4375,0,3166	9	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	326.58	41	chr19	54775321	.	A	*	326.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.02;DP=2991;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.79;MQRankSum=-12.08;QD=0.37;ReadPosRankSum=3.25;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,100:461:99:0|1:54775315_G_T:3112,0,14817:54775315	9	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	326.58	41	chr19	54775322	.	G	*	326.58	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.639;DP=2991;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=1;MLEAF=0.05;MQ=57.79;MQRankSum=-12.08;QD=0.37;ReadPosRankSum=3.42;SOR=0.706	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:361,100:461:99:0|1:54775315_G_T:3112,0,14817:54775315	9	0	1	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K,KIR2DL4:NM_001080772:exon3:c.C240G:p.N80K	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2374.45	34	chr19	54804956	.	C	G	2374.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.15;DP=1422;ExcessHet=0.7463;FS=12.453;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.29;MQRankSum=-16.12;QD=2.96;ReadPosRankSum=-2.862;SOR=1.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,20:276:65:0|1:54804956_C_G:65,0,10637:54804956	7	0	3	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I,KIR2DL4:NM_001080772:exon3:c.T244A:p.F82I	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2530.45	34	chr19	54804960	.	T	A	2530.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.519;DP=1424;ExcessHet=0.7463;FS=17.072;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.32;MQRankSum=-15.73;QD=3.12;ReadPosRankSum=-2.895;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:256,21:277:99:0|1:54804956_C_G:107,0,10681:54804956	7	0	3	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M,KIR2DL4:NM_001080772:exon3:c.T252G:p.I84M	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2780.45	34	chr19	54804968	.	T	G	2780.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=3.13;DP=1435;ExcessHet=0.7463;FS=16.177;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.31;MQRankSum=-15.32;QD=3.4;ReadPosRankSum=-1.498;SOR=1.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,20:275:52:0|1:54804956_C_G:52,0,10579:54804956	7	0	3	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G,KIR2DL4:NM_001080772:exon3:c.A253G:p.S85G	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.15	2699.45	34	chr19	54804969	.	A	G	2699.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.383;DP=1440;ExcessHet=0.7463;FS=19.076;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=58.38;MQRankSum=-15.34;QD=3.32;ReadPosRankSum=-1.654;SOR=2.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,20:275:52:0|1:54804956_C_G:52,0,10579:54804956	7	0	3	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S,KIR2DL4:NM_001080772:exon3:c.T299C:p.F100S	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6712.57	34	chr19	54805015	.	T	C	6712.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.265;DP=1562;ExcessHet=1.5895;FS=8.159;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.78;QD=5.8;ReadPosRankSum=1.44;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,39:286:99:0|1:54805010_A_G:894,0,10211:54805010	6	0	4	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L,KIR2DL4:NM_001080772:exon3:c.T300A:p.F100L	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	6847.57	34	chr19	54805016	.	T	A	6847.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.245;DP=1562;ExcessHet=1.5895;FS=8.174;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.67;MQRankSum=-11.71;QD=5.92;ReadPosRankSum=1.08;SOR=1.162	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,40:286:99:0|1:54805010_A_G:939,0,10187:54805010	6	0	4	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R,KIR2DL4:NM_001080772:exon3:c.A308G:p.H103R	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00119188927627	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs796878779	3.426e-06	0.0002	4.09e-06	2.756e-06	1.8e-06	1e-06	7.3e-07	3e-07	1.1e-07	0	0	0	0	5.683e-05	0	1.8e-06	0	0	4.7e-05	0.0029	5.246e-05	4.127e-05	0.0002	2.151e-05	1.554e-05	1.981e-05	1.049e-05	7.471e-05	0	6.676e-05	0	0	0	0	2.979e-05	0	0.0002	0.057	0.37966	T	0.101	0.38596	T	0.009	0.15093	B	0.006	0.12133	B	0.900041	0.07350	U	1.083630	1	0.08975	N	1.245	0.31408	L	5.78	0.00681	T	-5.95	0.89152	D	0.045	0.09066	-0.9256	0.44772	T	0.003	0.00994	T	10	0.102012426	0.18672	T	0.001192	0.01533	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.03833865634309133	0.03779	1.81219128519	0.91816	.	.	.	.	.	.	-0.350096	0.04721	T	-0.740665	0.03863	T	0.0647783944973474	0.07899	T	.	.	.	.	.	.	.	.	.	.	.	-4.915	0.35903	T	.	.	0.097	0.17060	B	.;.;.;.	.;.;.;.	-0.151121	0.03348	0.592	0.69629908088386028	0.09034	0.00308	0.01632	N	AEFDBI	0.034642	0.04326	N	-1.13086835408799	0.06101	0.2799287	-1.26988241760385	0.04843	0.2294386	2.01186922009763E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-0.942	0.09869	-3.960000	0.00366	.	.	0.517000	0.23534	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5371:0.0:0.4629:0.0	4.279	0.10270	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2	7942.57	34	chr19	54805024	.	A	G	7942.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-0.474;DP=1576;ExcessHet=1.5895;FS=9.137;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=58.61;MQRankSum=-11.4;QD=6.79;ReadPosRankSum=1.21;SOR=1.163	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,40:269:99:0|1:54805010_A_G:990,0,9495:54805010	6	0	4	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I,KIR2DL4:NM_001080772:exon3:c.C317T:p.T106I	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.000700822115211	.	.	.	.	.	.	.	.	.	.	0.0009605	25	26028	rs796513163	7.541e-06	0.0002	2.728e-06	1.241e-05	2.239e-05	4.05e-06	2.96e-06	8.4e-07	5.7e-07	0	2.239e-05	3.862e-05	0	7.619e-05	0	3.601e-06	0	1.166e-05	3.338e-05	0.0029	5.221e-05	1.366e-05	0.0006	1.276e-05	8.09e-06	0.0002	9.396e-05	2.468e-05	0	0	0	0	0	0	1.485e-05	0	0.0006	0.142	0.25768	T	0.321	0.19073	T	0.003	0.11197	B	0.004	0.10090	B	0.591279	0.05593	U	1.381260	1	0.08975	N	2	0.54354	M	2.55	0.13795	T	-2.95	0.63901	D	0.118	0.10769	-0.9874	0.33249	T	0.033	0.14334	T	10	0.060203582	0.07359	T	7.01E-4	0.00435	T	0.024	0.04979	.	.	0.0675242888579	0.06100	0.04331565967951002	0.04276	1.63047291344	0.89215	.	.	.	.	.	.	-0.366031	0.03800	T	-0.763555	0.02987	T	0.0524682142329862	0.05929	T	.	.	.	.	.	.	.	.	.	.	.	-9.207	0.69223	D	.	.	0.216	0.46273	B	.;.;.;.	.;.;.;.	0.032458	0.04511	1.213	0.83014543442455713	0.14496	0.00242	0.01343	N	AEFDBI	0.041998	0.06460	N	-1.24619832928253	0.04350	0.1961546	-1.41778311686848	0.03074	0.1426955	1.1506097044956E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-2.28	0.06438	-1.970000	0.01595	.	.	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.6794:0.3206:0.0:0.0	6.335	0.20497	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	8952.15	34	chr19	54805033	.	C	T	8952.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.399;DP=1643;ExcessHet=2.8389;FS=9.437;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.68;MQRankSum=-11.65;QD=6.18;ReadPosRankSum=0.528;SOR=1.101	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,43:255:99:0|1:54805010_A_G:1107,0,8719:54805010	5	0	5	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V,KIR2DL4:NM_001080772:exon3:c.A352G:p.M118V	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.000896150500463	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs377158496	7.372e-05	0.0003	4.11e-05	0.0001	0.0004	6.225e-05	5.782e-05	6.542e-05	6.1e-05	0	0	3.935e-05	7.58e-05	0.0001	0.0004	7.939e-05	8.332e-05	3.521e-05	1.994e-05	0.0009	1.3e-05	2.72e-05	0.0004	5.3e-06	2.47e-06	7.542e-05	3.122e-05	0	0	0	0	0	9.517e-05	0	0	0	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.009	0.15093	B	0.004	0.10090	B	0.167963	0.03088	N	2.088310	1	0.08975	N	-0.475	0.02701	N	2.74	0.11730	T	0.19	0.06868	N	0.074	0.06587	-1.0167	0.24787	T	0.015	0.06282	T	10	0.027635008	0.00906	T	8.96E-4	0.00822	T	0.014	0.01968	.	.	0.143184338766	0.13958	0.03977817011760987	0.03923	1.56059685374	0.88033	.	.	.	.	.	.	-0.414852	0.01846	T	-0.833683	0.01198	T	0.0837077051401138	0.10455	T	.	.	.	.	.	.	.	.	.	.	.	-1.865	0.02998	T	.	.	0.077	0.08899	B	.;.;.;.	.;.;.;.	-0.512683	0.01826	0.145	0.81087781055770536	0.13513	0.00133	0.00820	N	AEFDBI	0.025271	0.01704	N	-1.41486537055219	0.02508	0.1108357	-1.45837055724275	0.02695	0.1244398	1.6772618897357E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.14	-0.275	0.12268	-1.056000	0.03600	.	.	-1.196000	0.01368	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.6062:0.0:0.3938:0.0	3.173	0.06167	976	0.04745	Immunoglobulin subtype;Immunoglobulin subtype;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	7881.15	34	chr19	54805068	.	A	G	7881.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.173;DP=1562;ExcessHet=2.8389;FS=6.858;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=58.36;MQRankSum=-9.918;QD=5.83;ReadPosRankSum=0.563;SOR=0.761	GT:AD:DP:GQ:PL	0/1:165,45:210:99:707,0,4225	5	0	5	0
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F,KIR2DL4:NM_001080772:exon4:c.A368T:p.Y123F	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.000412457697702	.	.	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs548305067	6.874e-07	4.789e-06	0	1.382e-06	9.011e-07	0	0	.	.	0	0	0	0	0	0	9.011e-07	0	0	0	2.635e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.083	0.33091	T	0.185	0.45744	T	0.029	0.25941	B	0.11	0.35187	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	5.76	0.00695	T	-2.94	0.62863	D	0.143	0.19055	-0.9456	0.41715	T	0.005	0.01651	T	9	0.09953773	0.18069	T	4.12E-4	0.00078	T	0.026	0.05648	.	.	0.0934897674506	0.08844	0.027781850178691565	0.02728	1.64456428975	0.89413	.	.	.	.	.	.	-0.296197	0.09024	T	-0.663243	0.08049	T	0.040030807459604	0.03696	T	.	.	.	.	.	.	.	.	.	.	.	-6.322	0.59734	T	.	.	0.166	0.39731	B	.;.;.;.;.;.	.;.;.;.;.;.	1.365047	0.17746	13.34	0.8690361499563457	0.16852	0.00313	0.01653	N	AEFDBI	0.037221	0.05085	N	-0.949558894302633	0.09702	0.4603585	-1.11896342680627	0.07338	0.3565461	1.17956831403963E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.172	0.12673	-0.279000	0.08512	.	.	-0.540000	0.04934	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5945:0.4055:0.0:0.0	3.728	0.08011	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	9915.15	99	chr19	54805957	.	A	T	9915.15	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.97;DP=1771;ExcessHet=2.8389;FS=3.192;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-16.36;QD=6.82;ReadPosRankSum=0.635;SOR=1.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:223,27:250:99:0|1:54805940_TCTC_T:462,0,9282:54805940	5	0	5	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G,KIR2DL4:NM_001080772:exon4:c.A371G:p.E124G	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000765021981206	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs796298317	6.871e-07	4.789e-06	0	1.381e-06	9.009e-07	0	0	.	.	0	0	0	0	0	0	9.009e-07	0	0	0	2.634e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.122	0.27663	T	0.119	0.39190	T	0.007	0.14184	B	0.002	0.12133	B	.	.	.	.	1	0.08975	N	-0.045	0.04980	N	2.62	0.12988	T	-3.74	0.71042	D	0.211	0.23506	-0.9370	0.43088	T	0.002	0.00676	T	9	0.05600232	0.06209	T	7.65E-4	0.00549	T	0.010	0.01040	.	.	0.043077524339	0.03247	0.06409426405292065	0.06348	1.75526258725	0.91031	.	.	.	.	.	.	-0.331698	0.05984	T	-0.714237	0.05079	T	0.0368346457453638	0.03126	T	.	.	.	.	.	.	.	.	.	.	.	-2.952	0.34463	T	.	.	0.072	0.17103	B	.;.;.;.;.;.	.;.;.;.;.;.	0.634502	0.10029	6.781	0.88093227450565881	0.17711	0.00125	0.00780	N	AEFDBI	0.028794	0.02603	N	-1.26647521352365	0.04087	0.1837661	-1.38178856189957	0.03446	0.1607592	2.06444612407306E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.55	0.08105	-0.492000	0.06547	.	.	-1.507000	0.01020	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5179:0.0:0.4821:0.0	4.324	0.10473	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	10422.2	99	chr19	54805960	.	A	G	10422.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.89;DP=1798;ExcessHet=2.8389;FS=2.226;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.88;MQRankSum=-16.33;QD=7.05;ReadPosRankSum=0.668;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,30:256:99:0|1:54805940_TCTC_T:579,0,9399:54805940	5	0	5	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S,KIR2DL4:NM_001080772:exon4:c.A385T:p.T129S	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.00369938800555	.	.	5.567e-05	0	0.0007	0	0	0	0	0	.	.	.	rs748394765	3.431e-06	1.3e-05	4.096e-06	2.759e-06	2.701e-06	1.01e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.701e-06	3.326e-05	0	6.662e-06	6.588e-05	1.3e-05	0	6.616e-05	0	0	.	.	0	0	6.616e-05	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.001108	0.00740	N	7.200430	1	0.08975	N	-3.165	0.00009	N	2.73	0.11839	T	1.22	0.01712	N	0.056	0.03613	-0.8748	0.50166	T	0.006	0.01870	T	10	0.013647258	0.00289	T	0.003699	0.08558	T	0.102	0.29158	.	.	0.143184338766	0.13958	0.027044094549388754	0.02654	1.39109223815	0.85005	.	.	.	.	.	.	-0.462046	0.00955	T	-0.901474	0.00492	T	0.0748926305845455	0.09321	T	.	.	.	.	.	.	.	.	.	.	.	-0.763	0.00889	T	.	.	0.064	0.05845	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.834838	0.01040	0.044	0.53029054606884674	0.04860	0.00012	0.00170	N	AEFDBI	0.015392	0.00291	N	-2.01882774161932	0.00193	0.008257516	-1.94356271259806	0.00400	0.01770385	1.17063954684405E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-0.0469	0.13174	0.292000	0.18766	.	.	-0.624000	0.04539	0.002000	0.15269	0.000000	0.08366	0.005000	0.06747	0.3872:0.0:0.0:0.6128	3.134	0.06046	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	14776.2	99	chr19	54805974	.	A	T	14776.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.69;DP=2009;ExcessHet=2.8389;FS=0.612;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=55.95;MQRankSum=-15.55;QD=8.75;ReadPosRankSum=0.322;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:246,43:289:99:0|1:54805940_TCTC_T:1018,0,10169:54805940	5	0	5	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q,KIR2DL4:NM_001080772:exon4:c.G392A:p.R131Q	.	421	659	441	1	0	443	0.251562	.	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.013	0.000941604155589	.	.	0.0003	0	0.0013	0	0	0.0002	0	0.0016	0.001921	50	26028	rs202246882	5.279e-05	6.294e-05	3.955e-05	6.616e-05	0.0003	4.287e-05	3.961e-05	0.0002	0.0002	0	0.0001	0	7.564e-05	0	0.0002	3.51e-05	6.642e-05	0.0003	0.0001	0.0002	0.0001	0.0001	0.0008	8.284e-05	6.82e-05	0.0005	0.0004	7.44e-05	0	0.0008	0	0	0	0	2.956e-05	0	0.0004	1.0	0.00964	T	1.0	0.03910	T	0.0	0.13644	B	0.0	0.04355	B	0.464890	0.04891	N	1.542390	1	0.08975	N	-2.565	0.00047	N	2.75	0.11622	T	2.25	0.00472	N	0.04	0.03069	-0.9519	0.40643	T	0.004	0.01295	T	10	0.015721977	0.00330	T	9.42E-4	0.00934	T	0.013	0.01715	.	.	0.174091166621	0.17034	0.021095889007445256	0.02062	1.71924122415	0.90548	.	.	.	.	.	.	-0.714436	0.00030	T	-0.905433	0.00465	T	0.0501607574657884	0.05529	T	.	.	.	.	.	.	.	.	.	.	.	-0.217	0.00435	T	.	.	0.065	0.06341	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.525354	0.01788	0.138	0.73410874544489724	0.10318	0.00030	0.00276	N	AEFDBI	0.021298	0.00932	N	-2.17374974192811	0.00088	0.003751786	-2.12833273597635	0.00161	0.007103925	2.59535722897861E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.94	0.07158	-1.595000	0.02196	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4314:0.0:0.2508:0.3177	1.446	0.02221	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	1	0	0.002345	0.000000	0.004167	0.011628	0.000000	0.000000	0.000000	0.004202	0.25	17370.2	99	chr19	54805981	.	G	A	17370.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.4;DP=2150;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.11;MQRankSum=-15.01;QD=9.52;ReadPosRankSum=-0.322;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,50:303:99:0|1:54805940_TCTC_T:1179,0,10326:54805940	5	0	5	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K,KIR2DL4:NM_001080772:exon4:c.C445A:p.Q149K	.	416	603	500	3	0	506	0.295561	.	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.027	0.000600995199084	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796139593	2.054e-06	2.189e-05	2.725e-06	1.376e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	6.586e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.015	0.52492	D	0.466	0.21545	T	0.028	0.19712	B	0.019	0.26717	B	0.218530	0.03437	U	2.191760	1	0.08975	N	1.17	0.29769	L	2.69	0.12268	T	-0.65	0.22944	N	0.106	0.13484	-1.0136	0.25784	T	0.041	0.17446	T	10	0.07830647	0.12465	T	6.01E-4	0.00274	T	0.027	0.05988	.	.	0.15499578495	0.15088	0.030426962936334883	0.02991	1.86795582778	0.92482	.	.	.	.	.	.	-0.327326	0.06316	T	-0.707957	0.05402	T	0.07779072841769	0.09702	T	.	.	.	.	.	.	.	.	.	.	.	-3.072	0.14113	T	.	.	0.095	0.16143	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.261443	0.00472	0.010	0.57104873323543892	0.05696	0.00143	0.00871	N	AEFDBI	0.036756	0.04948	N	-1.49293136850256	0.01900	0.08334951	-1.67917428157046	0.01232	0.05552245	1.96384650934533E-4	0.05898	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.04	-2.07	0.06873	-1.932000	0.01645	.	.	-5.196000	0.00013	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4754:0.2961:0.2285	4.213	0.09977	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	22716.2	99	chr19	54806034	.	C	A	22716.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.229;DP=2912;ExcessHet=2.8389;FS=3.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.45;MQRankSum=-17.44;QD=9.52;ReadPosRankSum=4.68;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:363,70:433:99:0|1:54806034_C_A:1816,0,15020:54806034	5	0	5	0
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R,KIR2DL4:NM_001080772:exon4:c.A446G:p.Q149R	.	417	602	500	3	0	506	0.295906	.	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.000698231574451	.	.	0	0	0	0	0	0	0	0	.	.	.	rs746343340	2.328e-05	5.747e-05	1.226e-05	3.441e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	2.699e-06	1.658e-05	0.0003	1.998e-05	0.0002	0	4.097e-05	0.0006	5.31e-06	2.47e-06	0.0002	9.372e-05	0	0	0	0	0	0	0	0	0	0.0006	1.0	0.00964	T	0.716	0.08505	T	0.0	0.07471	B	0.002	0.19048	B	0.218530	0.03437	N	2.191760	1	0.08975	N	-0.41	0.02942	N	2.67	0.12473	T	0.01	0.11185	N	0.051	0.02861	-0.9819	0.34561	T	0.015	0.05849	T	10	0.022258013	0.00551	T	6.98E-4	0.00435	T	0.005	0.00259	.	.	0.20808081866	0.20439	0.018312308498273373	0.01785	1.62690945155	0.89163	.	.	.	.	.	.	-0.395299	0.02485	T	-0.805596	0.01766	T	0.0361073549231356	0.02999	T	.	.	.	.	.	.	.	.	.	.	.	-0.457	0.00626	T	.	.	0.059	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.548845	0.01717	0.126	0.1435906815429033	0.00314	0.00175	0.01031	N	AEFDBI	0.030820	0.03175	N	-2.16967246651284	0.00090	0.003831711	-2.20712287736297	0.00108	0.004744652	1.07926449648836E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-1.76	0.07574	-0.066000	0.11556	.	.	-3.284000	0.00100	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.7891:0.0:0.2109:0.0	6.415	0.20912	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.25	22899.2	99	chr19	54806035	.	A	G	22899.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.07;DP=2921;ExcessHet=2.8389;FS=4.623;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.42;MQRankSum=-17.54;QD=9.54;ReadPosRankSum=5.03;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:365,71:436:99:0|1:54806034_C_A:1852,0,15101:54806034	5	0	5	0
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M,KIR2DL4:NM_001080772:exon4:c.C462G:p.I154M	.	413	617	488	4	0	496	0.286705	.	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.000542649328314	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs112266387	6.846e-07	1.916e-05	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.643e-06	3.949e-05	0	1.361e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	1.0	0.00964	T	0.265	0.28300	T	0.001	0.13644	B	0.005	0.26717	B	0.021564	0.01555	N	4.036070	1	0.08975	N	-1.185	0.00856	N	2.71	0.12055	T	0.58	0.03824	N	0.052	0.04913	-0.9508	0.40833	T	0.016	0.06329	T	10	0.01567614	0.00329	T	5.43E-4	0.00196	T	0.009	0.00846	.	.	0.158540857583	0.15491	0.022625134842526706	0.02214	1.56269628182	0.88057	.	.	.	.	.	.	-0.406495	0.02098	T	-0.821678	0.01419	T	0.0491104212058717	0.05343	T	.	.	.	.	.	.	.	.	.	.	.	-3.48	0.28982	T	.	.	0.069	0.06617	B	.;.;.;.;.;.	.;.;.;.;.;.	-1.681431	0.00202	0.003	0.30573155537778873	0.01679	0.00033	0.00296	N	AEFDBI	0.022408	0.01117	N	-2.59438172759116	0.00009	0.0004174465	-2.64788836212231	0.00010	0.0004634108	0.947304446228941	0.27746	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.05	-2.09	0.06831	-1.305000	0.02846	.	.	-0.638000	0.04459	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.4374:0.2279:0.3346	4.6	0.11740	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.25	22299.2	99	chr19	54806051	.	C	G	22299.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.563;DP=2945;ExcessHet=2.8389;FS=4.707;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.54;MQRankSum=-18.03;QD=9.15;ReadPosRankSum=5.19;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:394,69:463:99:0|1:54806034_C_A:1711,0,16336:54806034	5	0	5	0
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon4:c.484_485del:p.E162Sfs*3,KIR2DL4:NM_001080772:exon4:c.484_485del:p.E162Sfs*3	.	409	636	474	3	0	480	0.273973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.63e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20457.1	38	chr19	54806072	.	GGA	G	20457.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.688;DP=2835;ExcessHet=2.8389;FS=5.882;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.84;MQRankSum=-17.65;QD=8.45;ReadPosRankSum=2.6;SOR=0.905	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:409,66:475:99:0|1:54806034_C_A:1540,0,16975:54806034	5	0	5	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78,KIR2DL4:NM_001080772:exon4:c.486_487insGG:p.A163Gfs*83	.	415	630	474	3	0	480	0.275862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.258e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.633e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	20353.1	38	chr19	54806075	.	A	AGG	20353.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.636;DP=2810;ExcessHet=2.8389;FS=5.92;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.83;MQRankSum=-17.42;QD=8.49;ReadPosRankSum=2.06;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:409,64:473:99:0|1:54806034_C_A:1456,0,16981:54806034	5	0	5	0
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P,KIR2DL4:NM_001080772:exon4:c.T497C:p.L166P	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.00126561986838	.	.	.	.	.	.	.	.	.	.	0.0108345	282	26028	rs112694450	2.054e-06	2.668e-05	1.362e-06	2.752e-06	2.699e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.699e-06	0	0	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.176	0.28772	T	0.247	0.31026	T	0.008	0.14655	B	0.01	0.16012	B	.	.	.	.	1	0.08975	N	0.96	0.23930	L	5.72	0.00726	T	-3.32	0.68764	D	0.048	0.08088	-0.8920	0.48758	T	0.002	0.00676	T	9	0.05647248	0.06334	T	0.001266	0.01708	T	0.084	0.24469	.	.	0.043077524339	0.03247	0.029543096631376373	0.02903	2.22587521974	0.95901	.	.	.	.	.	.	-0.333176	0.05874	T	-0.71636	0.04974	T	0.06923972269659	0.08545	T	.	.	.	.	.	.	.	.	.	.	.	-6.488	0.50992	T	.	.	0.125	0.36889	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.541643	0.01739	0.130	0.30546163533684245	0.01676	0.00084	0.00566	N	AEFDBI	0.040908	0.06150	N	-1.75954112441418	0.00652	0.02811985	-1.89857749402206	0.00493	0.0218348	4.00468085139758E-4	0.06820	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-1.46	0.08338	-4.522000	0.00254	.	.	-1.727000	0.00720	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2448:0.2837:0.2446:0.2269	0.244	0.00182	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	19703.2	38	chr19	54806086	.	T	C	19703.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.793;DP=2800;ExcessHet=2.8389;FS=7.273;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.94;MQRankSum=-17.24;QD=8.27;ReadPosRankSum=-0.791;SOR=1.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:404,59:463:99:0|1:54806034_C_A:1261,0,16786:54806034	5	0	5	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V,KIR2DL4:NM_001080772:exon4:c.A520G:p.I174V	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.00150018900562	.	.	.	.	.	.	.	.	.	.	0.0017673	46	26028	rs200435373	4.107e-06	8.21e-06	4.086e-06	4.128e-06	8.986e-05	1.48e-06	9.7e-07	2.381e-05	1.26e-05	8.986e-05	4.474e-05	0	0	0	0	8.995e-07	0	0	3.982e-05	6.581e-05	5.185e-05	2.72e-05	9.852e-05	1.73e-05	1.139e-05	3.296e-05	1.946e-05	9.852e-05	0	0	0	0	0	0	2.95e-05	0	0	1.0	0.00964	T	0.716	0.08273	T	0.0	0.02946	B	0.0	0.04355	B	0.000015	0.00162	N	21.575300	1	0.08975	N	-1.765	0.00315	N	2.72	0.11947	T	0.4	0.04022	N	0.064	0.09349	-0.9697	0.37262	T	0.008	0.02968	T	9	0.026097596	0.00785	T	0.002	0.02318	T	0.047	0.12962	.	.	0.043077524339	0.03247	0.009202094420106284	0.00883	1.30891436969	0.83166	.	.	.	.	.	.	-0.448991	0.01145	T	-0.882721	0.00632	T	0.0586992040478046	0.06962	T	.	.	.	.	.	.	.	.	.	.	.	-0.517	0.02545	T	.	.	0.065	0.05360	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.275204	0.00054	0.001	0.16757461822379344	0.00462	0.00104	0.00666	N	AEFDBI	0.027275	0.02201	N	-2.5106296527513	0.00015	0.0006516505	-2.51493381181123	0.00021	0.0009431019	0.0431614665892215	0.14558	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.854	0.10163	-0.997000	0.03816	.	.	-2.920000	0.00157	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	17023.2	38	chr19	54806109	.	A	G	17023.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.044;DP=2734;ExcessHet=2.8389;FS=10.498;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.35;MQRankSum=-16.97;QD=7.33;ReadPosRankSum=-4.427;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:406,55:461:99:0|1:54806034_C_A:1087,0,16882:54806034	5	0	5	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D,KIR2DL4:NM_001080772:exon4:c.A523G:p.N175D	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	9901.57	38	chr19	54806112	.	A	G	9901.57	.	AC=4;AF=0.2;AN=20;BaseQRankSum=0.987;DP=2693;ExcessHet=1.5895;FS=8.425;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=57.15;MQRankSum=-15.74;QD=5.16;ReadPosRankSum=-2.953;SOR=1.43	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:406,48:454:99:0|1:54806034_C_A:793,0,16903:54806034	6	0	4	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S,KIR2DL4:NM_001080772:exon5:c.C661T:p.P221S	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.000621740094912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.39e-06	2.737e-06	0	2.789e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.144e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.277	0.21968	T	0.279	0.21745	T	0.006	0.13644	B	0.003	0.08700	B	0.046212	0.01956	U	5.272780	1	0.08975	N	0.045	0.08109	N	7.05	0.00450	T	-2.36	0.55025	N	0.061	0.06587	-0.9252	0.44829	T	0.001	0.00255	T	10	0.058746576	0.06953	T	6.22E-4	0.00303	T	0.018	0.03083	.	.	0.0675242888579	0.06100	0.02819159353811284	0.02769	1.54876453167	0.87867	.	.	.	.	.	.	-0.366904	0.03753	T	-0.764809	0.02943	T	0.114286564290524	0.13862	T	.	.	.	.	.	.	.	.	.	.	.	-4.184	0.26519	T	.	.	0.104	0.18950	B	.;.;.;.	.;.;.;.	-0.289144	0.02665	0.341	0.41441202538805488	0.02990	0.00018	0.00208	N	AEFBI	0.019551	0.00689	N	-1.61870495931056	0.01174	0.05102983	-1.71290992187964	0.01081	0.04855486	3.23883740516504E-5	0.03775	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-0.587000	0.05874	.	.	-0.888000	0.02403	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.0:0.2772:0.3273:0.3955	2.159	0.03587	982	0.03397	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	13059.2	37	chr19	54808838	.	C	T	13059.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=5.81;DP=2070;ExcessHet=2.8389;FS=3.037;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.16;MQRankSum=-17.43;QD=7.13;ReadPosRankSum=0.745;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,45:315:99:0|1:54808838_C_T:1077,0,11202:54808838	5	0	5	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5,KIR2DL4:NM_001080772:exon5:c.674_675del:p.W225Sfs*5	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15064.1	37	chr19	54808850	.	TGG	T	15064.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=4.12;DP=2228;ExcessHet=2.8389;FS=2.1;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.39;MQRankSum=-16.24;QD=7.59;ReadPosRankSum=-0.095;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,59:348:99:0|1:54808838_C_T:1607,0,11937:54808838	5	0	5	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15,KIR2DL4:NM_001080772:exon5:c.676_677insAT:p.P226Hfs*20	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15589.1	37	chr19	54808853	.	C	CAT	15589.1	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.82;DP=2244;ExcessHet=2.8389;FS=1.315;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.46;MQRankSum=-16.1;QD=7.83;ReadPosRankSum=-0.41;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,60:349:99:0|1:54808838_C_T:1649,0,11934:54808838	5	0	5	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S,KIR2DL4:NM_001080772:exon5:c.T698C:p.F233S	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.000447511138945	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1465997687	1.376e-06	1.368e-06	1.37e-06	1.382e-06	6.075e-05	2.3e-07	9e-08	1.006e-05	3.76e-06	6.075e-05	0	0	0	0	0	0	0	0	1.993e-05	1.974e-05	1.297e-05	2.724e-05	7.415e-05	5.3e-06	2.47e-06	1.966e-05	1.045e-05	7.415e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.506	0.10967	T	0.0	0.07471	B	0.002	0.06944	B	0.491149	0.05037	U	1.930170	1	0.08975	N	-1.515	0.00494	N	7.25	0.00433	T	2.25	0.00307	N	0.14	0.13911	-0.9819	0.34561	T	0.000	0.00152	T	10	0.028942287	0.01023	T	4.48E-4	0.00107	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.02708054647761313	0.02658	2.35642927456	0.96844	.	.	.	.	.	.	-0.409861	0.01992	T	-0.826513	0.01325	T	0.0655447216952588	0.08011	T	.	.	.	.	.	.	.	.	.	.	.	-0.475	0.00568	T	.	.	0.070	0.03887	B	.;.;.;.	.;.;.;.	-0.295392	0.02636	0.333	0.47455017389395787	0.03881	0.00276	0.01495	N	AEFBCI	0.026542	0.02011	N	-2.02046759288525	0.00191	0.008189703	-2.03483107511558	0.00258	0.01138985	2.16622587642089E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.852	-1.7	0.07721	-2.798000	0.00832	.	.	-2.007000	0.00444	0.000000	0.06391	0.000000	0.08366	0.019000	0.11356	0.0:0.4355:0.0:0.5645	3.991	0.09026	982	0.03397	.;.;.;.	.	.	.	.	.	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	0.001862	0.000000	0.000000	0.000000	0.000000	0.000000	0.010989	0.000000	0.25	17966.2	37	chr19	54808875	.	T	C	17966.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.58;DP=2329;ExcessHet=2.8389;FS=1.259;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.6;MQRankSum=-15.46;QD=8.7;ReadPosRankSum=-2.176;SOR=0.677	GT:AD:DP:GQ:PL	0/1:294,69:363:99:2016,0,7286	5	0	5	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F,KIR3DL2:NM_006737:exon5:c.A662T:p.Y221F	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000464580640836	.	.	.	.	.	.	.	.	.	.	.	.	.	rs953284565	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.973e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.297	0.22084	T	0.998	0.73220	D	0.957	0.69900	D	0.987012	0.08056	U	0.989616	1	0.08975	N	1.825	0.47900	L	5.76	0.00695	T	-2.9	0.60827	D	0.098	0.12770	-0.9144	0.46298	T	0.007	0.02518	T	10	0.1624504	0.30445	T	4.65E-4	0.00116	T	0.019	0.03383	0.518	0.61915	0.336892272479	0.33291	0.018868245159557127	0.01840	1.60845377238	0.88855	0.403694212437	0.25583	T	0.067962	0.33336	T	-0.305796	0.08124	T	-0.677031	0.07167	T	0.537836849689484	0.34024	D	.	.	.	0.19793491	0.41677	0.16741675	0.38624	0.19793491	0.41677	0.16741675	0.38624	-6.639	0.51350	T	.	.	0.148	0.32589	B	.;.	.;.	0.893731	0.12673	9.197	0.95973909104232413	0.28337	0.00299	0.01594	N	AEFBI	0.032299	0.03618	N	-0.732235372597301	0.15120	0.7592366	-0.957408281364291	0.10751	0.5435199	1.67992491567851E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	-0.254	0.12350	-0.950000	0.03999	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5937:0.4063:0.0:0.0	3.712	0.07954	982	0.03397	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	13924.2	34	chr19	54855625	.	A	T	13924.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.782;DP=1986;ExcessHet=2.8389;FS=8.748;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.55;MQRankSum=-15.08;QD=7.77;ReadPosRankSum=1.52;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,38:289:99:0|1:54855608_TCTC_T:840,0,10425:54855608	5	0	5	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G,KIR3DL2:NM_006737:exon5:c.A665G:p.E222G	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.0011106169865	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985925024	6.844e-07	2.052e-06	1.362e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.118	0.28148	T	0.271	0.22291	T	0.999	0.77913	D	0.99	0.78936	D	0.407241	0.04570	U	1.688890	1	0.08975	N	0.38	0.12130	N	5.81	0.00662	T	-1.77	0.41809	N	0.087	0.10769	-0.8640	0.50973	T	0.005	0.01833	T	10	0.0910846	0.15926	T	0.001111	0.01336	T	0.018	0.03083	0.409	0.44395	0.184867976434	0.18130	0.04741152337579393	0.04684	1.9288275753	0.93111	0.312949419022	0.12353	T	0.061579	0.31691	T	-0.358922	0.04191	T	-0.753343	0.03358	T	0.0479596368968487	0.05137	T	.	.	.	0.038775276	0.05231	0.055304885	0.09676	0.038775276	0.05230	0.055304885	0.09675	-4.68	0.36840	T	.	.	0.068	0.03552	B	.;.	.;.	0.681116	0.10498	7.211	0.93748499984386979	0.23687	0.00095	0.00623	N	AEFBI	0.022196	0.01079	N	-0.906883655702748	0.10679	0.5115434	-1.03393035090106	0.09045	0.4478514	2.60640366773723E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.993	0.993	0.18943	-0.810000	0.04612	.	.	-0.201000	0.08892	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	1.0:0.0:0.0:0.0	4.242	0.10106	982	0.03397	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	13459.2	34	chr19	54855628	.	A	G	13459.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.78;DP=1991;ExcessHet=2.8389;FS=8.887;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=56.62;MQRankSum=-15.1;QD=7.49;ReadPosRankSum=1.58;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:252,38:290:99:0|1:54855608_TCTC_T:837,0,10444:54855608	5	0	5	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R,KIR3DL2:NM_006737:exon7:c.T1006C:p.C336R	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.00110318286967	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs796466301	7.457e-05	0.0011	7.798e-05	7.115e-05	0.0002	6.259e-05	5.845e-05	9.469e-05	7.503e-05	0.0001	0.0002	0.0002	5.078e-05	0	0	6.593e-05	3.482e-05	0.0002	0	3.285e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.134	0.26300	T	0.451	0.12920	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	-1.04	0.01097	N	7.31	0.00423	T	0.16	0.05217	N	0.083	0.10769	-0.9760	0.35904	T	0.001	0.00188	T	8	0.04906112	0.04441	T	0.001103	0.01312	T	0.009	0.00846	0.442	0.49811	0.119812018005	0.11559	0.09452283820028774	0.09384	2.56269628182	0.97972	0.333641290665	0.15483	T	7.89E-4	0.00376	T	-0.415095	0.01840	T	-0.834032	0.01193	T	0.059155964491615	0.07034	T	.	.	.	0.106677674	0.25223	0.1821225	0.41119	0.106677674	0.25223	0.1821225	0.41119	1.528	0.00757	T	.	.	0.054	0.02639	B	.;.	.;.	-0.404554	0.02196	0.218	0.45649119719455972	0.03599	0.00039	0.00329	N	AEFBI	0.015175	0.00277	N	-1.72878488187199	0.00744	0.03215037	-1.79035493063549	0.00791	0.03527497	4.27305037267331E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.609	-0.763	0.10475	-1.665000	0.02067	.	.	-1.747000	0.00693	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	15828.2	34	chr19	54865810	.	T	C	15828.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.521;DP=1456;ExcessHet=2.8389;FS=1.162;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-9.966;QD=12.94;ReadPosRankSum=1.02;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,38:204:99:0|1:54865794_T_C:1096,0,6856:54865794	5	0	5	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I,KIR3DL2:NM_006737:exon7:c.G1021A:p.V341I	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00055253107299	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796782943	6.843e-07	1.368e-06	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	6.575e-06	6.567e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.164	0.24468	T	0.419	0.14158	T	0.002	0.09854	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	1.11	0.28643	L	7.18	0.00448	T	-0.21	0.10656	N	0.072	0.04547	-0.9746	0.36213	T	0.001	0.00348	T	9	0.07256496	0.10849	T	5.53E-4	0.00208	T	0.008	0.00669	0.367	0.37524	0.241078983079	0.23725	0.04157770004610267	0.04102	0.0027843863192	0.00238	0.408555775881	0.26256	T	0.002608	0.01994	T	-0.428714	0.01509	T	-0.853595	0.00915	T	0.0821466851244207	0.10259	T	.	.	.	0.022919703	0.00990	0.029417474	0.01278	0.022919703	0.00989	0.029417474	0.01278	-3.748	0.20029	T	.	.	0.070	0.08033	B	.;.	.;.	-1.320914	0.00420	0.008	0.32275471755800766	0.01862	0.00127	0.00790	N	AEFBI	0.021088	0.00901	N	-1.46961496636215	0.02067	0.09089394	-1.60118741659373	0.01648	0.07480784	3.08807583727834E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.835000	0.04494	.	.	-0.482000	0.05067	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.5465:0.0:0.4535:0.0	3.986	0.09005	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	15804.2	34	chr19	54865825	.	G	A	15804.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.712;DP=1509;ExcessHet=2.8389;FS=0.548;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.56;MQRankSum=-10.27;QD=12.39;ReadPosRankSum=1.42;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,38:218:99:0|1:54865794_T_C:1054,0,7444:54865794	5	0	5	0
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A,KIR3DL2:NM_006737:exon7:c.T1043C:p.V348A	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.000400803919065	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1224475740	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	0.29823	T	0.986	0.02387	T	0.98	0.59353	D	0.966	0.71341	D	0.029014	0.01695	N	4.101880	1	0.08975	N	0.395	0.12235	N	7.27	0.00437	T	-0.92	0.24676	N	0.126	0.11912	-0.9172	0.45931	T	0.002	0.00585	T	10	0.07284033	0.10928	T	4.01E-4	0.00071	T	0.065	0.18881	0.494	0.58206	0.0297737177859	0.01360	0.06284081072503588	0.06223	0.00213134346531	0.00180	0.403696119785	0.25583	T	0.001044	0.00572	T	-0.400058	0.02313	T	-0.812432	0.01611	T	0.139050558209419	0.16193	T	.	.	.	0.031689838	0.03054	0.03537673	0.02778	0.031689838	0.03053	0.03537673	0.02778	-6.306	0.48770	T	.	.	0.101	0.17488	B	.;.	.;.	0.454312	0.08244	4.984	0.26484307624393894	0.01271	0.00052	0.00397	N	AEFBI	0.015930	0.00328	N	-1.33586624352162	0.03274	0.1459584	-1.54872497766398	0.01985	0.0906649	1.28470643324931E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.401000	0.07293	.	.	-0.458000	0.05121	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.0:0.5995:0.0:0.4005	5.878	0.18089	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	15765.2	34	chr19	54865847	.	T	C	15765.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.92;DP=1527;ExcessHet=2.8389;FS=1.17;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.49;MQRankSum=-10.24;QD=12.22;ReadPosRankSum=-0.054;SOR=0.816	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,39:228:99:0|1:54865794_T_C:1069,0,7819:54865794	5	0	5	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I,KIR3DL2:NM_006737:exon7:c.T1048A:p.F350I	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.000552976428505	.	.	8.242e-06	0	0	0	0	1.5e-05	0	0	6.5e-06	1	154602	rs2915986	3.52e-06	3.467e-06	4.204e-06	2.829e-06	3.699e-06	1.03e-06	7.5e-07	8.7e-07	5.8e-07	0	0	0	0	0	0	3.699e-06	1.7e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.520826	0.11743	N	0.610798	1	0.08975	N	-2.095	0.00157	N	7.34	0.00418	T	2.41	0.00335	N	0.177	0.19055	-0.9514	0.40730	T	0.000	0.00075	T	10	0.028288513	0.00963	T	5.53E-4	0.00208	T	0.025	0.05312	0.361	0.36548	0.0401082797425	0.02173	0.037563278247634765	0.03702	0.00194719441549	0.00165	0.439581662416	0.30520	T	0.002307	0.01700	T	-0.359524	0.04156	T	-0.754208	0.03325	T	0.102266789170519	0.12604	T	.	.	.	0.029341966	0.02414	0.027775709	0.00957	0.029341966	0.02413	0.027775709	0.00957	1.774	0.00144	T	.	.	0.031	0.00001	B	.;.	.;.	-1.192069	0.00539	0.013	0.21394745277116367	0.00813	0.00027	0.00265	N	AEFBI	0.015044	0.00268	N	-2.17185589876208	0.00089	0.003788383	-2.12745077528888	0.00162	0.00713515	4.11374997373906E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.556	0.11213	-3.473000	0.00511	.	.	-1.423000	0.01123	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.3789:0.3119:0.0:0.3092	1.833	0.02945	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	15501.2	34	chr19	54865852	.	T	A	15501.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.003;DP=1520;ExcessHet=2.8389;FS=1.853;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.54;MQRankSum=-10.09;QD=12.04;ReadPosRankSum=-0.456;SOR=0.81	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,39:228:99:0|1:54865794_T_C:1069,0,7819:54865794	5	0	5	0
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I,KIR3DL2:NM_006737:exon7:c.C1060A:p.L354I	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.000772956067362	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1296399738	8.417e-06	0.0011	1.256e-05	4.23e-06	7.065e-05	4.49e-06	3.55e-06	1.874e-05	1.019e-05	0	7.065e-05	0	0	1.911e-05	0	3.683e-06	0	4.841e-05	0	2.628e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.509	0.07521	T	1.0	0.01155	T	0.01	0.15535	B	0.009	0.14300	B	0.025651	0.01634	N	972.142000	1	0.08975	N	-0.22	0.03977	N	6.79	0.00488	T	1.13	0.01297	N	0.193	0.21188	-0.8671	0.50746	T	0.001	0.00287	T	10	0.037043363	0.02035	T	7.73E-4	0.00568	T	0.013	0.01715	0.474	0.55020	0.0551355673512	0.04727	0.03483597995631442	0.03430	0.00231030591297	0.00198	0.440028011799	0.30580	T	0.003421	0.02829	T	-0.38056	0.03091	T	-0.784425	0.02323	T	0.24141052365303	0.22484	T	.	.	.	0.02956708	0.02474	0.027299805	0.00872	0.02956708	0.02473	0.027299805	0.00872	-2.832	0.08482	T	.	.	0.067	0.02428	B	.;.	.;.	-1.733188	0.00181	0.003	0.39800349715696198	0.02769	0.00031	0.00285	N	AEFBI	0.015044	0.00268	N	-2.51786959481438	0.00014	0.0006260781	-2.5670260733213	0.00016	0.0007120855	0.00421926217040744	0.10461	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.756	-1.51	0.08207	-0.986000	0.03857	.	.	-4.822000	0.00020	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4531:0.5469:0.0:0.0	6.404	0.20859	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	14715.2	34	chr19	54865864	.	C	A	14715.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.33;DP=1488;ExcessHet=2.8389;FS=1.176;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.7;MQRankSum=-9.413;QD=11.76;ReadPosRankSum=-0.902;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,37:225:99:0|1:54865794_T_C:988,0,7783:54865794	5	0	5	0
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F,KIR3DL2:NM_006737:exon7:c.C1066T:p.L356F	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.000653011748056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1338748485	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.05152	T	0.137	0.33894	T	0.999	0.77913	D	0.993	0.81110	D	0.959071	0.07705	U	1.034180	1	0.08975	N	1.67	0.42885	L	6.68	0.00576	T	-0.57	0.19297	N	0.144	0.15888	-0.9404	0.42552	T	0.004	0.01470	T	10	0.067382395	0.09379	T	6.53E-4	0.00350	T	0.046	0.12618	0.447	0.50629	0.0482279557977	0.04254	0.03706772757247262	0.03653	0.00235242544378	0.00204	0.419023424387	0.27702	T	0.010928	0.09812	T	-0.282597	0.10395	T	-0.643707	0.09401	T	0.149730133327665	0.17082	T	.	.	.	0.029493352	0.02453	0.034858517	0.02630	0.029493352	0.02453	0.034858517	0.02630	-4.814	0.34754	T	.	.	0.092	0.13362	B	.;.	.;.	0.692112	0.10608	7.311	0.86832300325457512	0.16803	0.00214	0.01215	N	AEFBI	0.025492	0.01754	N	-1.08763022436649	0.06870	0.3175028	-1.36423289139558	0.03641	0.1702588	3.46547822766471E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-1.58	0.08029	-0.403000	0.07275	.	.	-0.690000	0.04136	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.414:0.3227:0.2634	2.405	0.04140	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	14632.2	34	chr19	54865870	.	C	T	14632.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.51;DP=1465;ExcessHet=2.8389;FS=0.553;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.69;MQRankSum=-9.557;QD=11.88;ReadPosRankSum=-1.277;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,35:215:99:0|1:54865794_T_C:928,0,7453:54865794	5	0	5	0
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H,KIR3DL2:NM_006737:exon7:c.T1081C:p.Y361H	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.000928668473944	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs2915987	4.899e-06	0.0012	8.359e-06	1.406e-06	6.971e-05	2.04e-06	1.31e-06	1.849e-05	1.012e-05	0	6.971e-05	0	2.532e-05	0	0	1.838e-06	0	1.202e-05	6.588e-06	7.887e-05	0	1.349e-05	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.639	0.06992	T	0.001	0.07471	B	0.004	0.10090	B	0.000834	0.00693	N	964.490000	1	0.08975	N	-1.885	0.00247	N	7.23	0.00430	T	2.95	0.00151	N	0.108	0.11054	-0.9038	0.47583	T	0.000	0.00114	T	10	0.02607575	0.00783	T	9.29E-4	0.00911	T	0.052	0.14661	0.509	0.60540	0.0806252709748	0.07271	0.05856973815727529	0.05797	0.00203136714976	0.00170	0.461200088263	0.33475	T	0.002548	0.01934	T	-0.543293	0.00320	T	-0.842333	0.01064	T	0.055993546621464	0.06523	T	.	.	.	0.01972407	0.00509	0.030124722	0.01429	0.01972407	0.00508	0.030124722	0.01428	-0.36	0.01497	T	.	.	0.058	0.01810	B	.;.	.;.	-1.085193	0.00658	0.018	0.29891803236966757	0.01608	0.00013	0.00170	N	AEFBI	0.013335	0.00174	N	-2.32571740057804	0.00040	0.001704577	-2.25685884815932	0.00083	0.003659575	2.27817266838019E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	-0.356	0.11957	-0.520000	0.06338	.	.	-3.331000	0.00095	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7076:0.0:0.2924	4.953	0.13373	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	13373.2	34	chr19	54865885	.	T	C	13373.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.07;DP=1392;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.61;MQRankSum=-9.308;QD=11.56;ReadPosRankSum=-1.506;SOR=0.68	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,28:197:99:0|1:54865794_T_C:667,0,7012:54865794	5	0	5	0
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C,KIR3DL2:NM_006737:exon7:c.C1084T:p.R362C	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.00070768877162	.	.	8.387e-06	0	0	0	0	1.53e-05	0	0	1.29e-05	2	154602	rs138402445	1.848e-05	1.847e-05	1.635e-05	2.064e-05	2.988e-05	1.266e-05	1.085e-05	1.461e-05	1.227e-05	2.988e-05	0	0	0	1.881e-05	0	2.159e-05	1.656e-05	0	6.58e-06	6.569e-06	0	1.347e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.049	0.50676	D	0.045	0.49390	D	0.998	0.73220	D	0.724	0.55036	P	0.003128	0.00941	U	719.913000	1	0.08975	N	2.18	0.61292	M	7.01	0.00466	T	-3.01	0.62518	D	0.177	0.25253	-0.9256	0.44772	T	0.005	0.01506	T	10	0.2351507	0.40570	T	7.08E-4	0.00454	T	0.076	0.22200	0.608	0.74063	0.377274123778	0.37341	0.04899285126321561	0.04842	0.00201032243671	0.00170	0.345741182566	0.17292	T	0.083108	0.36978	T	-0.280145	0.10652	T	-0.57654	0.14856	T	0.0767469108104706	0.09565	T	.	.	.	0.090401374	0.21151	0.072761305	0.15734	0.090401374	0.21151	0.072761305	0.15734	-5.468	0.41568	T	.	.	0.101	0.17488	B	.;.	.;.	1.700358	0.21659	15.29	0.78131642950480018	0.12168	0.00252	0.01388	N	AEFBI	0.036619	0.04908	N	-0.596483761697517	0.19051	0.9940639	-0.847282888163348	0.13353	0.6922374	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	-0.462000	0.06781	.	.	-0.557000	0.04870	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	13039.2	34	chr19	54865888	.	C	T	13039.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=1.85;DP=1373;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.58;MQRankSum=-9.099;QD=11.43;ReadPosRankSum=-1.48;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,28:193:99:0|1:54865794_T_C:677,0,6824:54865794	5	0	5	0
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C,KIR3DL2:NM_006737:exon7:c.G1089C:p.W363C	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000545132984031	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs150217832	6.846e-07	6.84e-07	1.362e-06	0	8.998e-07	0	0	.	.	0	0	0	0	0	0	8.998e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.055	0.48080	T	0.999	0.77913	D	0.995	0.83170	D	0.004823	0.01046	U	6.630260	0.999999	0.08975	N	2.65	0.77586	M	7.12	0.00449	T	-8.3	0.96976	D	0.417	0.45709	-0.9378	0.42963	T	0.005	0.01578	T	10	0.46326482	0.59415	T	5.45E-4	0.00196	T	0.087	0.25287	0.69	0.82748	0.115124310173	0.11017	0.06623851051609898	0.06562	0.0020945074082	0.00176	0.531311154366	0.43219	T	0.117344	0.43737	T	-0.156731	0.27265	T	-0.46291	0.26281	T	0.919087171554565	0.57763	D	.	.	.	0.27311128	0.50379	0.25889528	0.51629	0.27311128	0.50379	0.25889528	0.51629	-5.179	0.48189	T	.	.	0.297	0.52760	B	.;.	.;.	1.876161	0.23830	16.17	0.96792341091729295	0.31116	0.02255	0.06527	N	AEFBI	0.039311	0.05691	N	-0.326071486107245	0.28160	1.550996	-0.608238508299626	0.19282	1.03379	2.43691630828497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.792	0.792	0.17769	0.848000	0.27362	.	.	0.413000	0.20698	0.222000	0.24557	0.000000	0.08366	0.017000	0.10941	0.0:0.0:1.0:0.0	4.875	0.13011	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	12453.2	34	chr19	54865893	.	G	C	12453.2	.	AC=5;AF=0.25;AN=20;BaseQRankSum=2.03;DP=1329;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.25;MQ=57.55;MQRankSum=-8.765;QD=11.42;ReadPosRankSum=-1.821;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,26:183:99:0|1:54865794_T_C:617,0,6441:54865794	5	0	5	0
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E,KIR3DL2:NM_006737:exon8:c.C1156G:p.Q386E	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.000487258690266	.	.	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs973541788	6.841e-07	8.893e-06	0	1.375e-06	2.519e-05	0	0	.	.	0	0	0	2.519e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.08	0.01032	N	7.15	0.00440	T	1.42	0.00936	N	0.047	0.01911	-0.9881	0.33077	T	0.000	0.00114	T	9	0.028343678	0.00967	T	4.87E-4	0.00143	T	0.019	0.03383	0.432	0.48171	0.139678290688	0.13603	0.030255114197267258	0.02974	0.00231557063093	0.00198	0.46007502079	0.33320	T	0.001004	0.00540	T	-0.420253	0.01704	T	-0.841441	0.01077	T	0.0475666406958597	0.05065	T	.	.	.	0.048541624	0.08476	0.04803189	0.07048	0.048541624	0.08476	0.04803189	0.07048	-3.597	0.17813	T	.	.	0.049	0.00120	B	.;.	.;.	-0.208194	0.03048	0.471	0.46700175483676853	0.03761	0.00016	0.00195	N	AEFBI	0.016061	0.00339	N	-1.82336724726666	0.00490	0.02110744	-1.81317678004361	0.00718	0.0319862	2.83414617026636E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.05	-1.86	0.07340	0.363000	0.20037	.	.	-0.318000	0.05900	0.220000	0.24536	0.000000	0.08366	0.002000	0.04165	0.0:0.5951:0.4049:0.0	6.644	0.22116	976	0.04745	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	12846.6	33	chr19	54866420	.	C	G	12846.6	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-4.779;DP=1543;ExcessHet=1.5895;FS=6.87;InbreedingCoeff=-0.25;MLEAC=4;MLEAF=0.2;MQ=56.21;MQRankSum=-16.34;QD=10.73;ReadPosRankSum=2;SOR=0.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:236,42:278:99:0|1:54866416_T_C:1053,0,9753:54866416	6	0	4	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2585.36	73	chr19	55358524	.	C	*	2585.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=1.02;DP=951;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.25;ReadPosRankSum=-1.373;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,75:75:99:.:.:3311,235,0:.	1	8	1	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.85	2730.36	73	chr19	55358535	.	T	*	2730.36	.	AC=17;AF=0.85;AN=20;BaseQRankSum=0.818;DP=956;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=17;MLEAF=0.85;MQ=60;MQRankSum=0;QD=3.4;ReadPosRankSum=0.165;SOR=0.934	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,75:75:99:.:.:3311,235,0:.	1	8	1	0
chr19	55693034	55693034	G	A	exonic	EPN1	.	nonsynonymous SNV	EPN1:NM_013333:exon8:c.G1183A:p.A395T,EPN1:NM_001130071:exon9:c.G1519A:p.A507T,EPN1:NM_001130072:exon9:c.G1261A:p.A421T,EPN1:NM_001321263:exon9:c.G1258A:p.A420T	.	387	1131	4	0	0	4	0.00176523	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.0291393409283	0.0002	0.000599042	0.0006	0	0.0002	0.0005	0.0002	0.0004	0	0.0024	0.000511	79	154602	rs199812536	0.0004	0.0004	0.0003	0.0004	0.0024	0.0003	0.0003	0.0022	0.0021	5.976e-05	0.0001	0.0023	5.042e-05	9.424e-05	0.0016	0.0002	0.0006	0.0024	0.0002	0.0002	0.0002	0.0002	0.0027	0.0001	0.0001	0.0016	0.0013	2.405e-05	0	0.0001	0.0006	0.0002	0	0	0.0002	0.0005	0.0027	0.892	0.10482	T	0.68	0.12142	T	0.0	0.07471	B	0.0	0.04355	B	0.133674	0.18543	N	0.528443	1	0.81001	D	-0.515	0.02571	N	2.56	0.14284	T	0.32	0.03955	N	0.162	0.23125	-0.9852	0.33784	T	0.014	0.05561	T	10	0.0073438287	0.00167	T	0.029139	0.51700	D	0.013	0.01715	.	.	0.151104730317	0.14643	0.2265663746096497	0.22571	0.0725149634754	0.08127	0.674110293388	0.63424	T	.	.	.	-0.701029	0.00036	T	-0.785923	0.02279	T	0.0251136059617373	0.01287	T	0.59724	0.22311	T	0.016734658	0.00218	0.03213483	0.01904	0.016734658	0.00218	0.03213483	0.01903	-3.988	0.25936	T	.	.	0.054	0.00573	B	.;.;.	.;.;.	2.093171	0.26629	17.18	0.95348320618777849	0.26729	0.15014	0.18701	N	AEFDBCI	0.075686	0.15206	N	-0.871003509529483	0.11536	0.5572507	-0.716286222329028	0.16556	0.8763526	0.016434803962656	0.12831	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.93	1.77	0.23848	1.189000	0.31723	6.735000	0.56468	-0.121000	0.13915	0.999000	0.42656	1.000000	0.68203	0.571000	0.30675	0.6915:0.1973:0.1112:0.0	4.531	0.11411	889	0.27310	.;.;.	.	.	.	.	.	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	0.001582	0.005618	0.000000	0.000000	0.000000	0.000000	0.003185	0.003906	0.05	1909.43	33	chr19	55693034	.	G	A	1909.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.956;DP=501;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=2.02;SOR=0.66	GT:AD:DP:GQ:PL	0/1:99,93:192:99:1921,0,2228	9	0	1	0
chr19	56814194	56814194	-	GCAGCCTCCACTTCTGGCTCAGCAGCCTCCACTTCTGGCTCG	exonic	PEG3	.	nonframeshift insertion	PEG3:NM_001369735:exon8:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001369736:exon8:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001146184:exon9:c.4247_4248insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1418_N1419insEVEAAEPEVEAAEP,PEG3:NM_001146185:exon9:c.3869_3870insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1292_N1293insEVEAAEPEVEAAEP,PEG3:NM_001146187:exon9:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369717:exon9:c.4253_4254insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1420_N1421insEVEAAEPEVEAAEP,PEG3:NM_001369719:exon9:c.4160_4161insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1389_N1390insEVEAAEPEVEAAEP,PEG3:NM_001369721:exon9:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369725:exon9:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369733:exon9:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369734:exon9:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001369737:exon9:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001369718:exon10:c.4253_4254insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1420_N1421insEVEAAEPEVEAAEP,PEG3:NM_001369722:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369727:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369729:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369730:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369732:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369738:exon10:c.3782_3783insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1263_N1264insEVEAAEPEVEAAEP,PEG3:NM_001369739:exon10:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_006210:exon10:c.4247_4248insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1418_N1419insEVEAAEPEVEAAEP,PEG3:NM_001369723:exon11:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369726:exon11:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369728:exon11:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369731:exon11:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369720:exon12:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP,PEG3:NM_001369724:exon12:c.3875_3876insCGAGCCAGAAGTGGAGGCTGCTGAGCCAGAAGTGGAGGCTGC:p.P1294_N1295insEVEAAEPEVEAAEP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.851e-07	6.85e-07	1.363e-06	0	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	1321.39	35	chr19	56814194	.	A	AGCAGCCTCCACTTCTGGCTCAGCAGCCTCCACTTCTGGCTCG	1321.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.07;DP=492;ExcessHet=0;FS=1.91;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=18.35;ReadPosRankSum=-3.66;SOR=0.594	GT:AD:DP:GQ:PL	0/1:33,39:72:99:1333,0,1262	9	0	1	0
chr19	57999867	57999867	C	T	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348022:exon4:c.G118A:p.V40M,ZNF606:NM_025027:exon4:c.G118A:p.V40M	.	383	1126	13	0	0	13	0.00573951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0022	0.00439297	0.0030	0.0003	0.0015	0	0.0011	0.0019	0.0078	0.0122	0.0030207	467	154602	rs139131343	0.0033	0.0033	0.0030	0.0036	0.0122	0.0032	0.0032	0.0116	0.0114	0.0005	0.0021	0.0003	0	0.0007	0.0061	0.0030	0.0031	0.0122	0.0024	0.0023	0.0021	0.0026	0.0124	0.0021	0.0021	0.0099	0.0090	0.0004	0	0.0046	0.0003	0	0.0006	0.0068	0.0029	0.0033	0.0124	0.358	0.14894	T	0.136	0.34009	T	0.001	0.07471	B	0.001	0.04355	B	0.496443	0.05066	N	1.397780	1	0.08975	N	-0.345	0.03330	N	3.28	0.06523	T	-0.02	0.07299	N	0.154	0.15888	-0.9227	0.45182	T	0.008	0.02842	T	10	0.0033984184	0.00059	T	.	.	.	0.009	0.00846	.	.	0.101711395817	0.09552	0.0532256403551682	0.05264	0.187770376275	0.21096	0.31148403883	0.12130	T	0.013822	0.11884	T	-0.683172	0.00046	T	-0.743718	0.03736	T	0.00987046295893953	0.00131	T	0.150485	0.11714	T	0.013685049	0.00066	0.027382242	0.00887	0.013685049	0.00066	0.027382242	0.00887	-3.616	0.18088	T	.	.	0.089	0.36134	B	.;.;.;.	.;.;.;.	-0.392850	0.02240	0.228	0.67414471268308063	0.08347	0.02725	0.07389	N	AEFDBCI	0.029107	0.02687	N	-1.57734524046376	0.01381	0.06021506	-1.64153807407759	0.01420	0.06421428	0.998019947658434	0.36314	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	3.55	-5.24	0.02576	-1.692000	0.02019	.	.	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.148:0.2494:0.0:0.6026	5.819	0.17774	976	0.04745	.;.;.;.	.	.	.	.	.	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	0.007553	0.000000	0.006793	0.011696	0.000000	0.000000	0.009146	0.018939	0.05	593.43	39	chr19	57999867	.	C	T	593.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.517;DP=387;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.23;ReadPosRankSum=2.05;SOR=0.6	GT:AD:DP:GQ:PL	0/1:31,27:58:99:605,0,675	9	0	1	0
chr20	396235	396235	G	A	exonic	TRIB3	.	nonsynonymous SNV	TRIB3:NM_001301188:exon4:c.G622A:p.V208M,TRIB3:NM_001301190:exon4:c.G622A:p.V208M,TRIB3:NM_001301193:exon4:c.G622A:p.V208M,TRIB3:NM_001301196:exon4:c.G622A:p.V208M,TRIB3:NM_021158:exon4:c.G622A:p.V208M,TRIB3:NM_001301201:exon5:c.G703A:p.V235M	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0238887266644	.	0.000199681	1.659e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs562068333	1.437e-05	1.505e-05	1.634e-05	1.239e-05	0.0001	9.24e-06	7.84e-06	4.909e-05	3.167e-05	0	0	0	0.0001	0	0	9.897e-06	1.657e-05	4.638e-05	6.564e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.016	0.54683	D	0.005	0.72224	D	0.998	0.73220	D	0.923	0.65830	D	0.000432	0.44522	D	0.000000	0.588955	0.31036	N	1.985	0.53793	M	-0.19	0.65931	T	-1.61	0.38734	N	0.157	0.31590	-0.3652	0.73108	T	0.327	0.69487	T	10	0.18726933	0.34229	T	0.023889	0.46868	T	0.219	0.51417	0.352	0.35084	0.69588290463	0.69326	0.3061388269551915	0.30526	0.681505250009	0.60048	0.632900357246	0.57557	T	0.231057	0.59728	T	-0.00899072	0.50408	T	-0.250691	0.49748	T	0.895061433315277	0.54655	D	0.881612	0.60121	D	0.07491922	0.16844	0.09121326	0.21433	0.07491922	0.16844	0.09121326	0.21432	-7.437	0.57165	T	.	.	0.141	0.33412	B	.;.;.	.;.;.	4.746515	0.76605	26.5	0.99889822340725831	0.96436	0.64568	0.32449	D	AEFDBHCI	0.179165	0.30645	N	0.455855408620202	0.64535	4.71034	0.392163142923593	0.61080	4.303366	0.999995373160929	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.18	4.19	0.48645	0.998000	0.29345	7.085000	0.57485	0.676000	0.76740	0.479000	0.26792	1.000000	0.68203	0.596000	0.31288	0.0969:0.1953:0.7078:0.0	6.602	0.21901	835	0.38313	Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1053.43	33	chr20	396235	.	G	A	1053.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.54;DP=413;ExcessHet=0;FS=0.742;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.248;SOR=0.816	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1065,0,1163	9	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4375	1195.34	115	chr20	3803192	.	G	C	1195.34	.	AC=7;AF=0.438;AN=16;BaseQRankSum=-1.757;DP=1072;ExcessHet=7.0302;FS=201.816;InbreedingCoeff=-0.6709;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.68;ReadPosRankSum=1.67;SOR=11.816	GT:AD:DP:GQ:PL	0/1:59,50:122:99:387,0,736	1	0	7	2
chr20	10049705	10049705	C	T	exonic	ANKEF1	.	nonsynonymous SNV	ANKEF1:NM_198798:exon6:c.C1136T:p.A379V,ANKEF1:NM_001303472:exon7:c.C569T:p.A190V,ANKEF1:NM_022096:exon7:c.C1136T:p.A379V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.0507228094859	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	0.08237	T	1.0	0.01155	T	0.954	0.54400	P	0.437	0.45591	B	0.000426	0.44522	D	0.248859	0.976597	0.39290	D	1.79	0.46772	L	-0.15	0.65192	T	-0.22	0.10480	N	0.581	0.60241	-0.8033	0.54950	T	0.214	0.57560	T	10	0.6874958	0.71651	D	0.050723	0.64362	D	0.233	0.53499	0.619	0.75347	0.7457264781	0.74343	0.5138078995225664	0.51302	0.716833638651	0.62019	0.534552574158	0.43675	T	0.008667	0.07944	T	0.0446227	0.57649	T	-0.173679	0.57107	T	0.755097210407257	0.43572	D	0.757524	0.38090	T	0.07955835	0.18183	0.08178266	0.18613	0.07955835	0.18183	0.08178266	0.18613	-2.095	0.03562	T	.	.	0.28	0.51419	B	.;.	.;.	2.403080	0.30876	18.57	0.86540061954191816	0.16604	0.82540	0.41753	D	AEFDIJ	0.161342	0.28738	N	0.245821332840929	0.53431	3.512139	0.260173255748146	0.53229	3.492999	0.0330069554246567	0.14084	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.6	5.6	0.84997	3.887000	0.55910	5.937000	0.51416	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.135000	0.19760	0.0:0.862:0.138:0.0	15.463	0.75106	949	0.11373	Ankyrin repeat-containing domain;Ankyrin repeat-containing 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	.	.	.	.	.	.	.	.	0.2	317.55	81	chr20	10049705	.	C	T	317.55	.	AC=4;AF=0.2;AN=20;BaseQRankSum=-3.332;DP=805;ExcessHet=1.5895;FS=229.965;InbreedingCoeff=-0.2493;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=0.222;SOR=9.688	GT:AD:DP:GQ:PL	0/1:51,21:72:20:20,0,1003	6	0	4	0
chr20	18396525	18396525	C	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon14:c.G1057A:p.E353K,DZANK1:NM_001099407:exon15:c.G1558A:p.E520K,DZANK1:NM_001351683:exon15:c.G1642A:p.E548K,DZANK1:NM_001351684:exon15:c.G1615A:p.E539K,DZANK1:NM_001367611:exon15:c.G1576A:p.E526K,DZANK1:NM_001367612:exon15:c.G1591A:p.E531K,DZANK1:NM_001367613:exon15:c.G1591A:p.E531K,DZANK1:NM_001367614:exon15:c.G1633A:p.E545K,DZANK1:NM_001367617:exon15:c.G1633A:p.E545K,DZANK1:NM_001367618:exon15:c.G1633A:p.E545K,DZANK1:NM_001367619:exon16:c.G1216A:p.E406K	.	427	1092	2	1	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	.	0.0049	0.00339457	0.0015	0.0162	0.0015	0	0	0	0	0.0001	0.0013519	209	154602	rs13347177	0.0005	0.0005	0.0006	0.0005	0.0174	0.0005	0.0005	0.0162	0.0158	0.0174	0.0014	0	2.523e-05	0	0.0023	1.799e-05	0.0013	0.0001	0.0046	0.0046	0.0046	0.0046	0.0157	0.0043	0.0042	0.0147	0.0143	0.0157	0	0.0022	0	0	0	0	1.47e-05	0.0038	0.0002	0.033	0.44358	D	0.024	0.56640	D	0.742	0.43019	P	0.181	0.35894	B	0.000000	0.84330	D	0.047358	0.998739	0.46639	D	2.56	0.74772	M	-0.54	0.70950	T	-3.75	0.71157	D	0.278	0.38027	-0.7285	0.59039	T	0.158	0.49094	T	10	0.007812202	0.00177	T	.	.	.	0.160	0.41473	.	.	0.39208347742	0.38818	0.6288972681655299	0.62822	0.0568055738289	0.06281	0.594399392605	0.52114	T	0.216969	0.65372	T	-0.375299	0.03334	T	-0.298894	0.44842	T	0.047714322021288	0.05092	T	0.838616	0.51512	T	0.3735312	0.58845	0.27250674	0.53161	0.3735312	0.58845	0.27250674	0.53160	-8.58	0.64957	D	.	.	0.162	0.57355	B	.;.;.;.;.	.;.;.;.;.	3.211383	0.43716	21.8	0.99411981810677286	0.63310	0.82906	0.42073	D	AEFBI	0.237564	0.35983	N	-0.130395289610873	0.36073	2.080267	-0.0729276817171575	0.36513	2.125947	0.966140876803176	0.28882	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	4.99	2.98	0.33575	2.598000	0.45887	5.028000	0.46802	-0.187000	0.09635	0.998000	0.41325	1.000000	0.68203	0.902000	0.43815	0.0:0.7091:0.1373:0.1535	7.580	0.27124	666	0.61362	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.05	1116.43	34	chr20	18396525	.	C	T	1116.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.317;DP=430;ExcessHet=0;FS=0.701;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.79;ReadPosRankSum=-1.529;SOR=0.576	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1128,0,1287	9	0	1	0
chr20	18542375	18542375	G	A	exonic	SEC23B	.	nonsynonymous SNV	SEC23B:NM_001172745:exon13:c.G1484A:p.R495H,SEC23B:NM_001172746:exon13:c.G1430A:p.R477H,SEC23B:NM_006363:exon13:c.G1484A:p.R495H,SEC23B:NM_032985:exon13:c.G1484A:p.R495H,SEC23B:NM_032986:exon13:c.G1484A:p.R495H	Cowden syndrome 7, Autosomal dominant;Dyserythropoietic anemia, congenital, type II, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	257333	not_provided|Congenital_dyserythropoietic_anemia,_type_II|not_specified|Cowden_syndrome_7	MedGen:C3661900|MONDO:MONDO:0009134,MedGen:C1306589,OMIM:224100,Orphanet:98873|MedGen:CN169374|MONDO:MONDO:0014802,MedGen:C4225179,OMIM:616858,Orphanet:201	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.670	.	0.0073	0.00499201	0.0022	0.0227	0.0019	0.0002	0	2.998e-05	0	6.056e-05	0.0020246	313	154602	rs141588462	0.0007	0.0007	0.0008	0.0007	0.0239	0.0007	0.0007	0.0225	0.0219	0.0239	0.0017	0	0.0001	0	0.0024	3.417e-05	0.0017	0.0002	0.0062	0.0062	0.0061	0.0063	0.0217	0.0059	0.0057	0.0205	0.0201	0.0217	0	0.0020	0	0	0	0	4.41e-05	0.0038	0.0002	0.123	0.29288	T	0.055	0.46862	T	0.961	0.55431	D	0.613	0.51171	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.7	0.79018	M	-1.33	0.98229	T	-3.67	0.74269	D	0.878	0.87590	0.712	0.93330	D	0.891	0.96368	D	10	0.011357635	0.00249	T	.	.	.	0.670	0.87771	.	.	0.972762489249	0.97246	0.7749315972061656	0.77443	0.273388309675	0.29839	0.712621927261	0.68973	T	0.158999	0.58215	T	-0.053244	0.43954	T	0.167662	0.81269	D	0.0336981880692407	0.02588	T	0.992526	0.97582	D	0.3885153	0.59926	0.42148572	0.66079	0.46717665	0.65117	0.4326478	0.66844	-9.27	0.69419	D	0.14981508671212346	0.17548	0.242	0.51005	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.660206	0.92868	33	0.99952247555547336	0.99951	0.99503	0.96817	D	AEFDBI	0.931750	0.92104	D	0.775513872632098	0.84553	8.319949	0.760084945912707	0.86909	9.042831	0.999999999999929	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	10.003000	0.99689	11.841000	0.97811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.111	0.86552	544	0.72685	Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;Sec23/Sec24 beta-sandwich;.	.	.	.	.	.	Likely benign	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	1	0	0.002518	0.000000	0.002717	0.002924	0.000000	0.008621	0.000000	0.000000	0.05	2175.43	33	chr20	18542375	.	G	A	2175.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.016;DP=544;ExcessHet=0;FS=1.627;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.71;ReadPosRankSum=-0.33;SOR=0.576	GT:AD:DP:GQ:PL	0/1:123,101:224:99:2187,0,2763	9	0	1	0
chr20	19960701	19960701	T	A	exonic	RIN2	.	nonsynonymous SNV	RIN2:NM_001242581:exon5:c.T500A:p.I167N,RIN2:NM_018993:exon6:c.T353A:p.I118N	Macrocephaly, alopecia, cutis laxa, and scoliosis, Autosomal recessive	.	.	.	.	.	.	.	0.6389	0.48	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0348046016736	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.395e-06	2.052e-06	0	2.814e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.68e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.61437	D	0.03	0.79402	D	0.868	0.68779	P	0.312	0.61233	B	0.005879	0.32444	N	0.360127	0.982924	0.39951	D	1.075	0.27130	L	1.03	0.40469	T	-3.05	0.62976	D	0.799	0.79889	-0.9919	0.32115	T	0.118	0.41385	T	9	0.34764817	0.51695	T	0.034805	0.55924	D	0.155	0.40530	0.66	0.79791	0.497481867153	0.49385	0.4421560917561823	0.44132	0.737364546988	0.63054	0.640012741089	0.58566	T	0.168476	0.51550	T	0.0279195	0.55447	T	-0.197672	0.54867	T	0.933669865131378	0.60058	D	0.945505	0.79230	D	0.244807	0.47433	0.26932576	0.52811	0.244807	0.47433	0.26932576	0.52810	-3.51	0.18031	T	.	.	0.372	0.60453	A	.;.;.	.;.;.	3.998859	0.58906	24.0	0.99382626456124123	0.61935	0.91334	0.53324	D	AEFBI	0.378816	0.46207	N	0.259333065067972	0.54102	3.576677	0.310452880144909	0.56152	3.778318	0.99995689878635	0.48110	0.706548	0.73137	0	0.588066	0.40923	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.66	5.66	0.87293	2.911000	0.48472	4.241000	0.42707	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.966000	0.53164	0.0:0.1485:0.0:0.8515	8.337	0.31380	880	0.29376	SH2 domain|Ras and Rab interactor 2, SH2 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	.	.	.	.	.	.	.	.	0.05	734.43	33	chr20	19960701	.	T	A	734.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.035;DP=381;ExcessHet=0;FS=2.019;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.49;ReadPosRankSum=-1.05;SOR=0.456	GT:AD:DP:GQ:PL	0/1:38,32:70:99:746,0,943	9	0	1	0
chr20	21705818	21705818	C	G	exonic	PAX1	.	nonsynonymous SNV	PAX1:NM_001257096:exon1:c.C106G:p.R36G,PAX1:NM_006192:exon1:c.C106G:p.R36G	.	.	.	.	.	.	.	.	.	.	.	742292	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.273	0.568604408843	.	0.000998403	0	0	0	0	.	0	0	0	0.0003458	9	26028	rs552831589	0.0001	0.0001	0.0001	0.0001	0.0052	0.0001	0.0001	0.0045	0.0042	0.0052	0.0003	0	0	0	0.0003	4.147e-06	0.0005	0	0.0019	0.0019	0.0018	0.0020	0.0067	0.0017	0.0016	0.0060	0.0058	0.0067	0	0.0004	0	0	0	0	0	0.0010	0.0002	0.884	0.02519	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.895	0.01383	N	-4.3	0.97172	D	0.11	0.05706	N	0.038	0.01999	-0.2437	0.76529	T	0.655	0.88012	D	9	0.0068674386	0.00156	T	0.568604	0.96090	D	0.273	0.58883	0.272	0.22210	0.245697971988	0.24196	0.24743659767534473	0.24657	1.65484946215	0.89605	0.812348663807	0.83851	D	0.078488	0.35903	T	-0.441857	0.01261	T	-0.404305	0.32885	T	0.00976049934364785	0.00128	T	0.388561	0.09605	T	0.0791306	0.18059	0.12500758	0.30124	0.0791306	0.18058	0.12500758	0.30123	-3.527	0.16812	T	.	.	0.052	0.00211	B	.;.	.;.	-0.619487	0.01519	0.097	0.36208049102972278	0.02316	0.00931	0.03609	N	AEFDBHCI	0.022093	0.01062	N	-1.25606075384765	0.04220	0.1900511	-1.21958375180221	0.05595	0.2670525	0.970563955730226	0.29217	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	4.25	0.668	0.17081	-0.269000	0.08626	0.091000	0.14516	-1.383000	0.01158	0.000000	0.06391	0.691000	0.26176	0.001000	0.02609	0.0:0.5239:0.4761:0.0	12.424	0.54870	839	0.37672	.;.	.	.	.	.	.	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	1	0	.	.	.	.	.	.	.	.	0.05	439.43	29	chr20	21705818	.	C	G	439.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.11;DP=322;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=17.58;ReadPosRankSum=0.121;SOR=0.622	GT:AD:DP:GQ:PL	0/1:7,18:25:99:451,0,125	9	0	1	0
chr20	32071735	32071735	C	G	exonic	HCK	.	nonsynonymous SNV	HCK:NM_001172129:exon2:c.C73G:p.P25A,HCK:NM_001172130:exon2:c.C136G:p.P46A,HCK:NM_001172131:exon2:c.C73G:p.P25A,HCK:NM_002110:exon2:c.C136G:p.P46A,HCK:NM_001172132:exon3:c.C76G:p.P26A,HCK:NM_001172133:exon3:c.C73G:p.P25A	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	0.0105029023185	0.0006	0.000998403	0.0003	0.0021	8.646e-05	0	0	0.0003	0	0	0.0002975	46	154602	rs147906206	0.0002	0.0002	0.0002	0.0002	0.0030	0.0002	0.0001	0.0025	0.0023	0.0030	0.0002	3.827e-05	0	1.872e-05	0.0026	9.083e-05	0.0004	0	0.0008	0.0008	0.0008	0.0008	0.0024	0.0007	0.0006	0.0020	0.0019	0.0024	0	0.0003	0	0	0	0.0034	0.0002	0.0014	0	0.247	0.20683	T	0.779	0.11004	T	0.0	0.02946	B	0.002	0.06944	B	0.660694	0.05978	N	1.240240	1	0.08975	N	1.245	0.31408	L	-0.67	0.72678	T	-0.24	0.12099	N	0.22	0.25006	-1.0116	0.26416	T	0.160	0.49447	T	10	0.0047525167	0.00100	T	0.010503	0.27109	T	0.050	0.13987	.	.	0.475430695062	0.47172	0.06030458553689394	0.05970	.	.	0.218865916133	0.01245	T	0.006951	0.31691	T	-0.481002	0.00729	T	-0.470487	0.25464	T	0.00243759738003591	0.00025	T	0.514149	0.16548	T	0.02249149	0.00916	0.030427882	0.01497	0.02249149	0.00916	0.030427882	0.01497	-4.215	0.29339	T	.	.	0.060	0.00890	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.111212	0.03574	0.694	0.59816665029212734	0.06314	0.03789	0.09113	N	AEFBI	0.077547	0.15626	N	-1.12999471740164	0.06115	0.2806529	-1.16011195805502	0.06589	0.317622	0.999582906820994	0.40607	0.626454	0.40138	0	0.80507	0.99744	0	0.675528	0.61593	0	0.631631	0.49550	0	.	.	4.28	-0.253	0.12353	0.152000	0.16120	-0.475000	0.08954	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.3642:0.4286:0.0:0.2071	3.176	0.06175	463	0.78548	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003525	0.000000	0.006793	0.005848	0.000000	0.008621	0.000000	0.000000	0.05	1343.43	35	chr20	32071735	.	C	G	1343.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=418;ExcessHet=0;FS=0.76;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.04;ReadPosRankSum=0.189;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,37:103:99:0|1:32071734_C_T:1355,0,2640:32071734	9	0	1	0
chr20	33791189	33791189	C	A	exonic	ZNF341	.	nonsynonymous SNV	ZNF341:NM_001282935:exon14:c.C1967A:p.P656H,ZNF341:NM_001282933:exon15:c.C2237A:p.P746H,ZNF341:NM_032819:exon15:c.C2216A:p.P739H	.	404	1117	1	0	0	1	0.000447427	.	.	.	1883989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.056	0.0182159306807	.	.	1.728e-05	0	0	0	0	3.18e-05	0	0	1.29e-05	2	154602	rs773579457	5.682e-05	5.678e-05	5.177e-05	6.193e-05	6.116e-05	4.68e-05	4.304e-05	4.9e-05	4.484e-05	0	0	0	0	0	0	6.116e-05	0.0002	4.638e-05	3.941e-05	3.94e-05	3.853e-05	4.034e-05	8.818e-05	1.715e-05	1.129e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.818e-05	0	0	0.014	0.61437	D	0.111	0.37173	T	0.043	0.21573	B	0.026	0.20792	B	0.004313	0.33881	N	0.222782	0.588039	0.32431	D	0.345	0.11182	N	3.14	0.10101	T	-1.1	0.30964	N	0.317	0.35727	-1.0509	0.14147	T	0.021	0.08686	T	10	0.13593346	0.25864	T	0.018216	0.40210	T	0.056	0.15993	0.339	0.32979	0.570406028562	0.56706	0.2326547279693263	0.23180	0.308413385656	0.33155	0.480381190777	0.36110	T	0.019707	0.15652	T	-0.382253	0.03016	T	-0.600319	0.12785	T	0.0786691424441701	0.09816	T	0.616838	0.23625	T	0.15343598	0.34780	0.13569582	0.32482	0.15343598	0.34779	0.13569582	0.32481	-6.103	0.47809	T	.	.	0.111	0.21653	B	.;.	.;.	3.516576	0.49270	22.8	0.99253637747111212	0.56957	0.37649	0.25809	N	AEFDGBI	0.109341	0.21720	N	-0.414226496399574	0.24970	1.352	-0.310125924984803	0.27770	1.543355	0.999937258228717	0.46732	0.614807	0.35715	0	0.588066	0.40923	0	0.616094	0.41390	0	0.528226	0.09195	0	.	.	4.97	4.97	0.65419	2.189000	0.42253	4.016000	0.41206	0.549000	0.26987	0.723000	0.28851	0.857000	0.27449	0.351000	0.25682	0.0:1.0:0.0:0.0	16.766	0.85385	244	0.90442	.;.	.	.	.	.	.	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	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.003067	0.000000	0.05	942.43	36	chr20	33791189	.	C	A	942.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.25;DP=377;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=0.75;SOR=0.743	GT:AD:DP:GQ:PL	0/1:28,39:67:99:954,0,546	9	0	1	0
chr20	34575211	34575211	T	C	exonic	PIGU	.	nonsynonymous SNV	PIGU:NM_080476:exon11:c.A1087G:p.I363V	.	428	1093	1	0	0	1	0.000457247	.	.	.	2132310	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.030	0.00451965352345	0.0002	0.000199681	6.609e-05	0.0006	8.685e-05	0	0	1.502e-05	0	0	5.82e-05	9	154602	rs145473483	2.599e-05	2.668e-05	2.45e-05	2.75e-05	0.0007	1.932e-05	1.692e-05	0.0005	0.0004	0.0007	2.236e-05	0	0	0	0	2.698e-06	0.0001	2.319e-05	0.0001	0.0001	6.428e-05	0.0002	0.0004	8.169e-05	6.725e-05	0.0002	0.0002	0.0004	0	6.536e-05	0	0	0	0	1.471e-05	0	0.0002	0.16	0.33254	T	0.193	0.28210	T	0.001	0.07471	B	0.001	0.04355	B	0.001483	0.38855	N	0.257927	0.981446	0.39777	D	0.9	0.23182	L	.	.	.	-0.73	0.20576	N	0.102	0.10911	-1.0465	0.15389	T	0.111	0.39841	T	9	0.043304503	0.03165	T	0.00452	0.11125	T	0.030	0.07022	.	.	0.110392049598	0.10638	.	.	0.152986545687	0.17264	0.468273699284	0.34443	T	0.037129	0.24361	T	-0.372209	0.03483	T	-0.429698	0.29969	T	0.0155192289057744	0.00352	T	0.755224	0.37818	T	0.02901406	0.02329	0.040127654	0.04266	0.02901406	0.02329	0.040127654	0.04266	-3.289	0.13596	T	0.08182636453146966	0.04265	0.058	0.02091	B	.;.;.	.;.;.	1.232254	0.16270	12.43	0.9304987235894866	0.22658	0.70311	0.34538	D	AEFBI	0.121770	0.23660	N	-0.695031756723549	0.16162	0.8210222	-0.579353319794227	0.20032	1.07745	0.0748586982539156	0.15678	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.42	0.532	0.16309	0.708000	0.25393	0.476000	0.18759	-0.133000	0.13014	0.968000	0.34134	0.199000	0.23556	0.981000	0.58702	0.0:0.2843:0.0:0.7157	9.325	0.37150	293	0.88320	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	578.43	34	chr20	34575211	.	T	C	578.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.105;DP=384;ExcessHet=0;FS=4.718;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.92;ReadPosRankSum=-1.556;SOR=0.439	GT:AD:DP:GQ:PL	0/1:44,29:73:99:590,0,1114	9	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4	2382.99	178	chr20	34852409	.	G	C	2382.99	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.363;DP=1624;ExcessHet=10.3881;FS=297.982;InbreedingCoeff=-0.6669;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=2.05;ReadPosRankSum=1.03;SOR=10.005	GT:AD:DP:GQ:PL	0/1:88,61:157:99:449,0,1089	2	0	8	0
chr20	38217470	38217470	T	C	exonic	KIAA1755	.	nonsynonymous SNV	KIAA1755:NM_001348708:exon11:c.A1637G:p.Q546R,KIAA1755:NM_001029864:exon13:c.A2684G:p.Q895R	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0171885190791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.384	0.11050	T	0.317	0.48336	T	0.993	0.65571	D	0.968	0.71741	D	0.010258	0.30003	N	0.156990	0.607522	0.32592	D	2.085	0.57729	M	3.31	0.32958	T	-1.48	0.45769	N	0.198	0.21839	-0.8716	0.50409	T	0.126	0.43215	T	10	0.2242235	0.39220	T	0.017189	0.38787	T	0.133	0.36157	0.588	0.71623	0.291694819147	0.28783	0.3587403364864136	0.35788	0.282776195037	0.30734	0.428021550179	0.28939	T	0.003978	0.03393	T	-0.089147	0.38219	T	-0.36583	0.37376	T	0.784741580486298	0.45348	D	0.719228	0.33234	T	0.17231338	0.37915	0.17899276	0.40605	0.17231338	0.37915	0.17899276	0.40604	-6.033	0.46555	T	.	.	0.164	0.36214	B	.;.	.;.	3.817311	0.55095	23.6	0.91030810367990456	0.20281	0.60763	0.31289	D	AEFDGBCI	0.405866	0.47858	N	0.172211271403261	0.49867	3.182507	0.215775595982425	0.50722	3.261313	0.999999999214188	0.74766	0.600919	0.35232	0	0.59043	0.45803	0	0.478664	0.07449	1	0.620204	0.46100	0	.	.	4.59	4.59	0.56297	1.136000	0.31079	4.867000	0.45528	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:0.0:1.0	10.282	0.42728	895	0.25842	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	328.43	41	chr20	38217470	.	T	C	328.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.5;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.93;ReadPosRankSum=0.858;SOR=0.941	GT:AD:DP:GQ:PL	0/1:10,12:22:99:340,0,216	9	0	1	0
chr20	44750474	44750474	G	A	exonic	KCNK15	.	nonsynonymous SNV	KCNK15:NM_022358:exon2:c.G629A:p.S210N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0226918335369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	0.13566	T	0.371	0.16425	T	.	.	.	.	.	.	0.055241	0.22659	N	0.449490	0.999871	0.19925	N	.	.	.	1.58	0.29085	T	-0.41	0.14000	N	0.029	0.00666	-1.0087	0.27323	T	0.028	0.12103	T	10	0.06207651	0.07881	T	0.022692	0.45601	T	0.132	0.35948	0.305	0.27485	0.268660756437	0.26461	0.44199480540054803	0.44116	.	.	0.437614768744	0.30251	T	.	.	.	-0.35214	0.04594	T	-0.743601	0.03741	T	0.298467755317688	0.24940	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10304	B	.	.	1.735612	0.22085	15.48	0.79967793803419107	0.12983	0.71233	0.34925	D	AEFDBHCI	0.198753	0.32560	N	-0.995426255549075	0.08701	0.4089712	-0.879719923097869	0.12574	0.647643	0.999979876789243	0.50053	0.59774	0.34471	0	0.596491	0.49125	0	0.505578	0.09266	0	0.584449	0.35598	0	.	.	4.51	1.51	0.22094	4.443000	0.59736	1.353000	0.25823	-0.642000	0.04431	1.000000	0.71638	0.771000	0.26700	0.107000	0.18608	0.5365:0.0:0.4635:0.0	6.830	0.23085	634	0.64659	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	3555.43	56	chr20	44750474	.	G	A	3555.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.144;DP=774;ExcessHet=0;FS=1.292;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.4;ReadPosRankSum=0.229;SOR=0.789	GT:AD:DP:GQ:PL	0/1:185,157:342:99:3567,0,4298	9	0	1	0
chr20	45841936	45841936	G	A	exonic	ACOT8	.	nonsynonymous SNV	ACOT8:NM_005469:exon6:c.C862T:p.H288Y	.	430	1085	7	0	0	7	0.00321543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0119021634721	0.0067	0.00239617	0.0053	0.0018	0.0028	0	0.0027	0.0073	0.0024	0.0047	0.0053816	832	154602	rs148674138	0.0080	0.0080	0.0081	0.0079	0.0093	0.0079	0.0078	0.0092	0.0091	0.0014	0.0031	0.0061	0	0.0028	0.0049	0.0093	0.0069	0.0043	0.0051	0.0051	0.0055	0.0047	0.0085	0.0048	0.0047	0.0080	0.0077	0.0015	0.0055	0.0047	0.0040	0	0.0013	0.0034	0.0085	0.0043	0.0046	0.009	0.57480	D	0.759	0.04652	T	0.175	0.28858	B	0.084	0.29270	B	0.000199	0.48115	D	0.225320	0.999513	0.81001	D	1.955	0.52871	M	.	.	.	-1.09	0.28290	N	0.306	0.34552	-0.5581	0.66476	T	0.231	0.59744	T	9	0.015983373	0.00336	T	0.011902	0.29978	T	0.186	0.46104	.	.	0.59231078066	0.58908	0.5544770968830558	0.55374	0.198422229685	0.22219	0.349779963493	0.17890	T	0.307673	0.67980	T	-0.289998	0.09636	T	-0.17895	0.56621	T	0.0207078205935791	0.00770	T	0.894111	0.63286	D	0.23414735	0.46230	0.20354654	0.44436	0.23414735	0.46230	0.20354654	0.44435	-5.487	0.41747	T	.	.	0.131	0.28261	B	.	.	2.379332	0.30541	18.47	0.99582855476779286	0.73099	0.98498	0.83415	D	AEFDBCI	0.947358	0.95781	D	0.343111006930953	0.58377	4.00951	0.471099906915172	0.66082	4.906	0.999999999999956	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.606735	0.37207	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	9.244000	0.94550	6.501000	0.55783	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	18.718	0.91647	798	0.45050	.	.	.	.	.	.	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	0.009834	0.010101	0.006793	0.006944	0.000000	0.017241	0.015244	0.015152	0.05	1369.43	34	chr20	45841936	.	G	A	1369.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.298;DP=435;ExcessHet=0;FS=1.404;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=-0.039;SOR=0.562	GT:AD:DP:GQ:PL	0/1:66,61:127:99:1381,0,1489	9	0	1	0
chr20	63307526	63307526	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon6:c.C533T:p.A178V	.	400	1118	1	0	3	4	0.000447027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.0151199948621	.	.	7.677e-05	0	0	0	0	3.109e-05	0.0012	0.0004	5.82e-05	9	154602	rs768498780	3.835e-05	3.831e-05	2.589e-05	5.094e-05	0.0004	3.029e-05	2.722e-05	0.0003	0.0002	0	0	0	0	0	0.0003	1.709e-05	6.63e-05	0.0004	2.627e-05	2.626e-05	2.568e-05	2.689e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.229	0.20154	T	0.873	0.04571	T	0.003	0.11197	B	0.004	0.10090	B	0.110139	0.19455	N	0.497453	1	0.08975	N	0.145	0.08828	N	-1.14	0.77843	T	-1.81	0.42575	N	0.157	0.16308	-0.9631	0.38586	T	0.183	0.53133	T	10	0.095722616	0.17118	T	0.01512	0.35666	T	0.163	0.42028	0.358	0.36060	0.659689046486	0.65684	0.11606496380848204	0.11534	0.0347258868878	0.03653	0.299514174461	0.10328	T	0.074189	0.34879	T	-0.481884	0.00721	T	-0.613814	0.11677	T	0.0258977482995527	0.01391	T	0.630337	0.24523	T	0.03133635	0.02956	0.048217744	0.07116	0.03133635	0.02955	0.048217744	0.07115	-3.458	0.20194	T	.	.	0.108	0.20547	B	.;.	.;.	0.476614	0.08461	5.220	0.97746682782481153	0.35714	0.03809	0.09143	N	AEFGBI	0.076461	0.15381	N	-1.10377871825932	0.06576	0.3030923	-1.09743743424452	0.07751	0.3782431	5.6264796144962E-5	0.04171	0.497415	0.19182	0	0.547309	0.14657	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.92	0.173	0.14321	-0.013000	0.12615	-1.125000	0.06256	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.800000	0.37734	0.0:0.5941:0.0:0.4059	8.414	0.31821	.	.	von Willebrand factor, type A;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1087.43	34	chr20	63307526	.	C	T	1087.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.12;DP=412;ExcessHet=0;FS=1.588;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.56;ReadPosRankSum=-1.026;SOR=0.525	GT:AD:DP:GQ:PL	0/1:52,51:103:99:1099,0,1207	9	0	1	0
chr21	13610400	13610400	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A172G:p.R58G	.	422	954	132	14	0	160	0.0773694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.00147797239572	.	.	.	.	.	.	.	.	.	.	0.0066851	174	26028	rs200814491	2.492e-05	8.633e-05	1.821e-05	3.157e-05	3.472e-05	1.631e-05	1.393e-05	1.38e-05	1.117e-05	0	0	0	0	5.248e-05	0	2.332e-05	5.701e-05	3.472e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.462	0.36386	P	0.152	0.34249	B	.	.	.	.	1	0.08975	N	2.175	0.60977	M	1.03	0.40469	T	-1.15	0.29525	N	0.041	0.03841	-1.0119	0.26322	T	0.093	0.35390	T	7	0.071079314	0.10429	T	0.001478	0.02267	T	0.070	0.20419	0.258	0.20002	0.043077524339	0.03247	0.05236624517845099	0.05178	.	.	0.467012226582	0.34271	T	0.021951	0.17006	T	-0.340339	0.05364	T	-0.423521	0.30672	T	0.131828456292153	0.15550	T	0.684632	0.29972	T	0.15094694	0.34338	0.18774164	0.42023	0.15094694	0.34338	0.18774164	0.42022	-8.467	0.64211	D	.	.	0.120	0.28578	B	.;.	.;.	1.858254	0.23606	16.08	0.93571275912320728	0.23413	0.00040	0.00335	N	AEFI	0.026967	0.02121	N	-0.883970604830688	0.11224	0.5404707	-1.10778252144765	0.07550	0.3677109	1.09839826763181E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.019000	0.13337	.	.	0.134000	0.17662	0.261000	0.24959	0.000000	0.08366	0.014000	0.10232	.	.	.	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	5620.14	246	chr21	13610400	.	A	G	5620.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-1.693;DP=883;ExcessHet=0.2348;FS=4.048;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=57.7;MQRankSum=-0.347;QD=9.88;ReadPosRankSum=1.21;SOR=0.484	GT:AD:DP:GQ:PL	0/1:185,138:323:99:2942,0,4610	8	0	2	0
chr21	13610565	13610565	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.G337A:p.G113S	.	444	172	461	445	0	1351	0.79705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00277741158105	.	.	.	.	.	.	.	.	.	.	0.033169	5128	154602	rs6517869	1.401e-05	6.993e-05	3.992e-06	2.407e-05	6.081e-05	8.13e-06	6.36e-06	1.007e-05	3.77e-06	0	6.081e-05	0	0	5.033e-05	0	8.892e-06	2.573e-05	3.286e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.153	0.24372	T	0.043	0.49942	D	1.0	0.90584	D	0.937	0.67262	D	.	.	.	.	1	0.08975	N	1.15	0.29295	L	1.66	0.27486	T	-1.24	0.31375	N	0.08	0.05542	-0.9968	0.30810	T	0.095	0.35818	T	8	0.068237185	0.09622	T	0.002777	0.05781	T	0.029	0.06676	0.202	0.11659	0.0934897674506	0.08844	0.04415967261073172	0.04359	.	.	0.431079089642	0.29356	T	0.012796	0.11182	T	-0.31698	0.07148	T	-0.693096	0.06212	T	0.036694748014754	0.03102	T	0.636336	0.25008	T	0.046982475	0.07955	0.08034204	0.18165	0.046982475	0.07954	0.08034204	0.18164	-7.591	0.58248	D	.	.	0.092	0.21163	B	.;.	.;.	1.490668	0.19177	14.13	0.9114633486319289	0.20400	0.00123	0.00769	N	AEFI	0.021764	0.01007	N	-0.750059816202474	0.14632	0.7304896	-1.05968458506513	0.08505	0.4185625	1.33632449358699E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.418	-0.732	0.10585	-1.777000	0.01877	.	.	0.323000	0.19410	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	.	.	.	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.65	47295.9	284	chr21	13610565	.	G	A	47295.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=2.78;DP=2483;ExcessHet=1.4371;FS=1.2;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=54;MQRankSum=-7.814;QD=19.88;ReadPosRankSum=-0.068;SOR=0.588	GT:AD:DP:GQ:PL	1/1:1,307:308:99:9172,896,0	1	4	5	0
chr21	13610631	13610631	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon1:c.A403G:p.I135V	.	439	188	453	442	0	1337	0.780502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00179256116657	.	.	.	.	.	.	.	.	.	.	0.175004	4555	26028	rs6517870	0.0002	0.0006	0.0002	0.0002	0.0010	0.0002	0.0002	0.0007	0.0006	0	0.0010	0	0	0.0019	0	0.0001	7.755e-05	3.326e-05	0.0002	0.0008	0.0001	0.0003	0.0011	0.0001	0.0001	0.0006	0.0005	0	0	0.0011	0	0	0.0004	0	8.695e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	0.955	0.23872	L	0.69	0.51714	T	0.21	0.04776	N	0.013	0.00142	-1.0463	0.15447	T	0.001	0.00408	T	8	0.01186794	0.00257	T	0.001793	0.03063	T	0.027	0.05988	.	.	0.043077524339	0.03247	0.057245171207421994	0.05665	.	.	0.60823392868	0.54066	T	0.003659	0.03070	T	-0.325257	0.06477	T	-0.704986	0.05557	T	0.0231726184936854	0.01044	T	0.405359	0.11777	T	0.018582096	0.00380	0.026746769	0.00781	0.018582096	0.00379	0.026746769	0.00780	-2.614	0.06610	T	.	.	0.071	0.06571	B	.;.	.;.	-1.090417	0.00652	0.018	0.18791234627756773	0.00606	0.00044	0.00357	N	AEFI	0.015589	0.00305	N	-2.40962434727351	0.00026	0.001112248	-2.38906535767928	0.00042	0.001829696	4.90101459551143E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.29	-2.58	0.05866	-2.318000	0.01202	.	.	-2.102000	0.00394	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5692:0.0:0.4308:0.0	5.628	0.16773	.	.	.;.	.	.	.	.	.	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	0.012405	0.000000	0.013369	0.016129	0.000000	0.046512	0.000000	0.010417	0.65	32418.9	248	chr21	13610631	.	A	G	32418.9	.	AC=13;AF=0.65;AN=20;BaseQRankSum=-0.799;DP=1979;ExcessHet=1.4371;FS=3.455;InbreedingCoeff=-0.0989;MLEAC=13;MLEAF=0.65;MQ=48.5;MQRankSum=-13.96;QD=17.34;ReadPosRankSum=0.791;SOR=0.955	GT:AD:DP:GQ:PL	1/1:0,214:214:99:6282,641,0	1	4	5	0
chr21	13641414	13641414	A	G	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon11:c.A1603G:p.M535V	.	518	268	324	412	0	1148	0.68171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.000925184405604	.	.	.	.	.	.	.	.	.	.	0.0332984	5148	154602	rs9980783	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.265	0.22694	T	0.053	0.22573	B	0.007	0.12992	B	.	.	.	.	0.999995	0.08975	N	1.295	0.32453	L	2.51	0.14284	T	-0.92	0.24676	N	0.112	0.09914	-0.9460	0.41648	T	0.021	0.08870	T	9	0.058576673	0.06907	T	9.25E-4	0.00889	T	0.056	0.15993	0.204	0.11936	0.0675242888579	0.06100	0.017058676146940573	0.01660	.	.	0.862693071365	0.91508	D	0.009423	0.08576	T	-0.65755	0.00065	T	-0.573482	0.15131	T	0.0619566306163236	0.07473	T	0.571043	0.20346	T	0.060948554	0.12567	0.09257506	0.21825	0.060948554	0.12567	0.09257506	0.21824	-3.238	0.12951	T	.	.	0.097	0.15788	B	.	.	0.712273	0.10810	7.493	0.4975947206577841	0.04266	0.04450	0.10053	N	AEFI	0.042990	0.06739	N	-0.991022779855283	0.08795	0.4137322	-1.03117548479235	0.09104	0.4510756	2.3450725238948E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.1	2.1	0.26226	1.579000	0.36145	.	.	0.351000	0.19951	0.307000	0.25387	0.000000	0.08366	0.054000	0.15518	0.8091:0.0:0.1909:0.0	3.884	0.08596	.	.	CCDC144C-like, coiled-coil 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	.	.	.	.	.	.	.	.	0.7	25747.0	188	chr21	13641414	.	A	G	25747.0	.	AC=14;AF=0.7;AN=20;BaseQRankSum=0.334;DP=1444;ExcessHet=0.6204;FS=0;InbreedingCoeff=0.0476;MLEAC=14;MLEAF=0.7;MQ=58.19;MQRankSum=-1.829;QD=18.7;ReadPosRankSum=-0.493;SOR=0.683	GT:AD:DP:GQ:PL	1/1:2,158:160:99:3973,428,0	1	5	4	0
chr21	14165268	14165268	A	G	exonic	LIPI	.	nonsynonymous SNV	LIPI:NM_001379566:exon4:c.T361C:p.C121R,LIPI:NM_001302999:exon5:c.T766C:p.C256R,LIPI:NM_001302998:exon6:c.T856C:p.C286R,LIPI:NM_001303000:exon6:c.T856C:p.C286R,LIPI:NM_001303001:exon6:c.T856C:p.C286R,LIPI:NM_001379565:exon6:c.T751C:p.C251R,LIPI:NM_198996:exon6:c.T721C:p.C241R	.	429	1090	3	0	0	3	0.00137426	.	.	.	728831	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.453	.	0.0088	0.00399361	0.0063	0.0016	0.0042	0	0.0033	0.0095	0.0022	0.0025	0.0066105	1022	154602	rs61740029	0.0099	0.0099	0.0101	0.0096	0.0119	0.0097	0.0097	0.0117	0.0116	0.0011	0.0044	0.0042	0	0.0037	0.0010	0.0119	0.0086	0.0022	0.0067	0.0067	0.0073	0.0060	0.0108	0.0063	0.0062	0.0102	0.0099	0.0021	0.0241	0.0065	0.0049	0	0.0032	0.0034	0.0108	0.0047	0.0021	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.99997	0.58761	D	.	.	.	-3.13	0.92829	D	-11.74	0.99533	D	0.98	0.99015	0.356	0.88435	D	0.526	0.82341	D	10	0.05239618	0.05268	T	.	.	.	0.688	0.88632	.	.	0.814061361237	0.81231	0.9542252053832736	0.95406	0.159454785147	0.17994	0.611117839813	0.54473	T	.	.	.	-0.116582	0.33684	T	0.0701491	0.74921	D	0.0998211030086485	0.12338	T	0.643636	0.25529	T	.	.	.	.	.	.	.	.	-13.633	0.91803	D	.	.	0.860	0.81379	P	.;.;.	.;.;.	4.867907	0.79722	27.2	0.99750364855468099	0.84228	0.96754	0.70760	D	AEFBI	0.651918	0.62550	D	0.602693383792135	0.73343	5.950911	0.601728392906544	0.75064	6.245096	0.277532713214437	0.18955	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	6.042000	0.70632	11.034000	0.85096	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	13.845	0.62958	.	.	.;Lipase/vitellogenin|Lipase, N-terminal;Lipase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.005051	0.000000	0.002924	0.000000	0.000000	0.006098	0.007576	0.05	1019.43	33	chr21	14165268	.	A	G	1019.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.48;DP=399;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-1.143;SOR=0.771	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1031,0,848	9	0	1	0
chr21	32270528	32270528	C	T	exonic	MIS18A	.	nonsynonymous SNV	MIS18A:NM_018944:exon3:c.G403A:p.V135I	.	.	.	.	.	.	.	.	0.0001	0.004	.	3285957	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.036	0.00371735885598	.	0.000199681	0.0001	0	0	0	0	0	0.0012	0.0010	0.0001035	16	154602	rs573480187	6.593e-05	6.772e-05	3.977e-05	9.259e-05	0.0010	5.477e-05	5.076e-05	0.0008	0.0008	3.338e-05	0	0	2.647e-05	0	0.0009	3.698e-06	6.983e-05	0.0010	7.227e-05	7.219e-05	2.571e-05	0.0001	0.0010	3.971e-05	3.127e-05	0.0004	0.0003	4.816e-05	0	0.0002	0	0	9.445e-05	0	0	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.132095	0.18599	N	0.559047	1	0.08975	N	-2.25	0.00109	N	.	.	.	0.01	0.06868	N	0.114	0.10198	-0.9974	0.30646	T	0.013	0.05033	T	9	0.012464076	0.00268	T	0.003717	0.08620	T	0.036	0.09122	0.115	0.02372	0.260249123532	0.25628	0.14620334094660384	0.14542	0.198902131425	0.22280	0.352131724358	0.18236	T	0.018652	0.14999	T	-0.651437	0.00071	T	-0.777343	0.02534	T	0.0170158532187352	0.00450	T	0.457454	0.13149	T	0.010790694	0.00010	0.022905108	0.00308	0.010790694	0.00010	0.022905108	0.00308	-3.158	0.11975	T	.	.	0.054	0.00321	B	.	.	-0.612840	0.01537	0.099	0.40692670841993728	0.02888	0.00805	0.03273	N	AEFBI	0.019719	0.00711	N	-2.01114989650396	0.00200	0.008577398	-1.93819948571869	0.00411	0.01815399	0.452193116273034	0.20550	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.78	-6.82	0.01537	-1.095000	0.03466	-3.966000	0.02422	-0.695000	0.04090	0.006000	0.17386	0.000000	0.08366	0.452000	0.27939	0.247:0.4822:0.0:0.2707	6.728	0.22557	902	0.24074	Yippee/Mis18/Cereblon|Mis18 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	1	0	.	.	.	.	.	.	.	.	0.1	1191.14	33	chr21	32270528	.	C	T	1191.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.07;DP=357;ExcessHet=0.2348;FS=1.928;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=0.252;SOR=0.97	GT:AD:DP:GQ:PL	0/1:17,24:41:99:664,0,357	8	0	2	0
chr21	33511272	33511272	C	T	exonic	GART	.	nonsynonymous SNV	GART:NM_000819:exon17:c.G2294A:p.S765N,GART:NM_001136005:exon17:c.G2294A:p.S765N,GART:NM_001136006:exon17:c.G2294A:p.S765N	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00820754106356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.272	0.15930	T	0.306	0.19972	T	0.0	0.02946	B	0.001	0.04355	B	0.176279	0.17229	N	0.636881	0.999991	0.08975	N	1.28	0.32218	L	2.26	0.17596	T	-0.39	0.13611	N	0.063	0.03502	-1.0089	0.27261	T	0.027	0.11485	T	10	0.10317451	0.18953	T	0.008208	0.21750	T	0.043	0.11576	0.407	0.44066	0.28297238246	0.27903	0.48847452550041665	0.48767	0.0932375999117	0.10540	0.283710420132	0.08014	T	0.033211	0.22818	T	-0.378459	0.03186	T	-0.781407	0.02411	T	0.0548483468592167	0.06333	T	0.865913	0.56597	D	0.060211282	0.12327	0.058340997	0.10762	0.060211282	0.12327	0.058340997	0.10762	-5.351	0.40445	T	.	.	0.071	0.04681	B	.;.;.	.;.;.	0.876676	0.12494	9.028	0.95456144974075263	0.26983	0.12858	0.17522	N	AEFBHCI	0.057872	0.10816	N	-0.601692097044202	0.18894	0.9845847	-0.516177651924343	0.21714	1.175958	0.999999999508274	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	2.26	0.27418	0.041000	0.13813	0.195000	0.15787	0.599000	0.40250	0.027000	0.20232	0.008000	0.19753	0.661000	0.32996	0.0:0.4465:0.1676:0.386	4.549	0.11505	929	0.16858	PurM-like, C-terminal domain;PurM-like, C-terminal domain;PurM-like, C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	858.43	34	chr21	33511272	.	C	T	858.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.875;DP=384;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=1.34;SOR=0.434	GT:AD:DP:GQ:PL	0/1:34,39:73:99:870,0,889	9	0	1	0
chr21	36227869	36227869	G	A	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon13:c.G1657A:p.G553R,DOP1B:NM_005128:exon13:c.G1657A:p.G553R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00673894076384	7.7e-05	0.000199681	0.0002	0.0002	0.0002	0.0027	0	0	0	8.074e-05	0.0002135	33	154602	rs149661750	0.0001	0.0001	0.0001	0.0001	0.0009	9.441e-05	8.918e-05	0.0006	0.0006	0.0002	6.873e-05	0	0.0009	5.725e-05	0	9.174e-05	6.711e-05	5.878e-05	0.0002	0.0002	0.0002	0.0002	0.0029	0.0001	0.0001	0.0018	0.0014	0.0001	0	6.541e-05	0	0.0029	0	0	5.881e-05	0	0	0.075	0.34444	T	0.228	0.25286	T	0.028	0.19712	B	0.003	0.08700	B	0.277604	0.15005	N	0.708493	1	0.08975	N	1.555	0.39373	L	2.76	0.11515	T	-2.4	0.52776	N	0.257	0.29081	-1.0503	0.14313	T	0.025	0.10777	T	10	0.007016301	0.00160	T	0.006739	0.17812	T	0.092	0.26621	0.14	0.04369	0.335661160332	0.33175	0.33454221900335	0.33367	0.214305633905	0.23962	0.32979029417	0.14902	T	0.064311	0.32400	T	-0.602924	0.00140	T	-0.638019	0.09815	T	0.0306286106787079	0.02088	T	0.728227	0.34274	T	0.057524756	0.11460	0.12513292	0.30153	0.057524756	0.11459	0.12513292	0.30153	-2.606	0.06549	T	.	.	0.091	0.12938	B	.	.	2.090485	0.26594	17.17	0.96372018990722708	0.29587	0.22991	0.21930	N	AEFBI	0.066979	0.13144	N	-0.513331684074508	0.21648	1.150424	-0.464414110180385	0.23141	1.260477	0.249000846881698	0.18659	0.562547	0.31514	0	0.588066	0.40923	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.76	5.76	0.90726	0.411000	0.20836	0.945000	0.22881	0.676000	0.76740	0.000000	0.06391	0.014000	0.20376	0.125000	0.19370	0.0713:0.0:0.6702:0.2585	8.665	0.33276	934	0.15400	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	830.43	35	chr21	36227869	.	G	A	830.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.252;DP=361;ExcessHet=0;FS=4.597;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.38;ReadPosRankSum=2.27;SOR=0.223	GT:AD:DP:GQ:PL	0/1:23,31:54:99:842,0,647	9	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.375	749.38	81	chr21	41918930	.	C	G	749.38	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-2.894;DP=915;ExcessHet=4.5998;FS=112.686;InbreedingCoeff=-0.5212;MLEAC=6;MLEAF=0.375;MQ=60;MQRankSum=0;QD=1.26;ReadPosRankSum=1.12;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,20:110:99:0|1:41918930_C_G:208,0,3147:41918930	2	0	6	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2778	740.79	81	chr21	41918931	.	C	G	740.79	.	AC=5;AF=0.278;AN=18;BaseQRankSum=-2.421;DP=897;ExcessHet=2.8389;FS=112.686;InbreedingCoeff=-0.4718;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=0.926;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,20:110:99:0|1:41918930_C_G:208,0,3147:41918930	4	0	5	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.25	759.41	80	chr21	41918933	.	C	G	759.41	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-4.116;DP=836;ExcessHet=2.8389;FS=113.692;InbreedingCoeff=-0.4246;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=1.05;SOR=9.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,20:108:99:0|1:41918930_C_G:214,0,3104:41918930	5	0	5	0
chr21	42111162	42111162	-	CCCCAGCCAGGTGAACCCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCAAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAA	exonic	UMODL1	.	nonframeshift insertion	UMODL1:NM_001199527:exon11:c.1724_1725insCCCCAGCCAGGTGAACCCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCAAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAA:p.Q618_R619insVNPSQGSPSQGSLRQESTSQASPSQRSTSQGSPSQVNPSQ,UMODL1:NM_173568:exon11:c.1940_1941insCCCCAGCCAGGTGAACCCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCAAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAA:p.Q690_R691insVNPSQGSPSQGSLRQESTSQASPSQRSTSQGSPSQVNPSQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.886e-06	4.105e-05	5.536e-06	4.225e-06	3.029e-05	2.03e-06	1.31e-06	8.5e-07	5.8e-07	3.029e-05	0	3.918e-05	0	0	0	3.642e-06	1.684e-05	0	5.258e-05	9.848e-05	6.431e-05	4.033e-05	0.0001	2.558e-05	1.831e-05	4.736e-05	3.052e-05	0.0001	0	6.544e-05	0	0	0	0	2.942e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	441.39	55	chr21	42111162	.	G	GCCCCAGCCAGGTGAACCCCAGCCAGGGGAGCCCCAGCCAGGGGAGCCTCAGACAGGAGAGTACCAGCCAGGCAAGCCCCAGCCAGAGGAGCACCAGCCAGGGGAGCCCCAGCCAGGTGAA	441.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.243;DP=473;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.59;MQRankSum=-0.566;QD=23.23;ReadPosRankSum=-1.738;SOR=0.593	GT:AD:DP:GQ:PL	0/1:6,13:19:99:453,0,195	9	0	1	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	3493.31	299	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	3493.31	.	AC=8;AF=0.444;AN=18;DP=3412;ExcessHet=1.5636;FS=2.538;InbreedingCoeff=-0.0667;MLEAC=9;MLEAF=0.5;MQ=59.94;QD=1.42;SOR=0.538	GT:AD:DP:GQ:PL	0/1:222,209:431:99:7922,0,8601	2	1	6	1
chr21	44940125	44940125	C	T	exonic	FAM207A	.	nonsynonymous SNV	FAM207A:NM_001316983:exon1:c.C68T:p.A23V,FAM207A:NM_001316984:exon1:c.C68T:p.A23V,FAM207A:NM_001316985:exon1:c.C68T:p.A23V,FAM207A:NM_001316986:exon1:c.C68T:p.A23V,FAM207A:NM_001316987:exon1:c.C68T:p.A23V,FAM207A:NM_058190:exon1:c.C68T:p.A23V	.	376	1140	5	1	0	7	0.00306078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	.	.	0.000399361	0.0068	0	0	0	0	0	0	0.0109	0.0004398	68	154602	rs569129876	0.0003	0.0004	0.0002	0.0004	0.0061	0.0003	0.0003	0.0056	0.0053	0	0	0	3.7e-05	0	0.0015	6.819e-05	0.0004	0.0061	0.0002	0.0002	6.432e-05	0.0003	0.0031	0.0001	9.706e-05	0.0019	0.0015	0	0	0	0	0	0	0.0034	0.0001	0	0.0031	0.013	0.58626	D	0.059	0.56640	T	0.288	0.32258	B	0.147	0.34014	B	0.946071	0.07625	N	1.030690	1	0.08975	N	2.3	0.65703	M	0.82	0.48142	T	-1.44	0.35399	N	0.165	0.20129	-0.9408	0.42489	T	0.131	0.44129	T	10	0.004724562	0.00099	T	.	.	.	0.048	0.13305	0.132	0.03662	0.35139820857	0.34749	0.19249139578881216	0.19167	0.183290922129	0.20616	0.808655440807	0.83286	D	0.005405	0.12627	T	-0.514756	0.00472	T	-0.509437	0.21372	T	0.0745208612003854	0.09271	T	0.547445	0.18775	T	0.05247603	0.09791	0.09237737	0.21768	0.05247603	0.09790	0.09237737	0.21768	-5.139	0.38512	T	.	.	0.115	0.23325	B	.;.;.	.;.;.	1.090377	0.14740	11.29	0.99500197149085245	0.67973	0.00492	0.02329	N	AEFDGBHCI	0.036867	0.04979	N	-0.85774548657028	0.11859	0.5747221	-0.951907042851068	0.10879	0.5507833	0.999999999998941	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.48	1.52	0.22158	0.308000	0.19071	0.085000	0.14440	-0.223000	0.07921	0.000000	0.06391	0.000000	0.08366	0.059000	0.15899	0.0:0.5951:0.4049:0.0	9.886	0.40431	867	0.32089	.;.;.	.	.	.	.	.	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	0.001172	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004167	0.05	394.43	31	chr21	44940125	.	C	T	394.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.92;DP=267;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=14.09;ReadPosRankSum=0.372;SOR=0.871	GT:AD:DP:GQ:PL	0/1:12,16:28:99:406,0,223	9	0	1	0
chr21	46162029	46162029	C	A	exonic	SPATC1L	.	nonsynonymous SNV	SPATC1L:NM_032261:exon3:c.G121T:p.V41L,SPATC1L:NM_001142854:exon4:c.G583T:p.V195L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00725579579803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.03811	T	1.0	0.01155	T	0.06	0.23119	B	0.024	0.20255	B	0.056135	0.22585	N	0.357494	1	0.08975	N	0.345	0.11182	N	1.03	0.40469	T	1.13	0.01182	N	0.207	0.27316	-0.9939	0.31591	T	0.038	0.16505	T	10	0.05888027	0.06991	T	0.007256	0.19253	T	0.029	0.06676	0.185	0.09388	0.151104730317	0.14643	0.25406757110597905	0.25320	0.209469143	0.23414	0.458010822535	0.33037	T	0.004172	0.03581	T	-0.200114	0.20788	T	-0.525226	0.19765	T	0.188584372401237	0.19761	T	.	.	.	0.027505355	0.01952	0.03992587	0.04197	0.027505355	0.01952	0.03992587	0.04196	-2.789	0.08082	T	.	.	0.289	0.64104	B	.;.	.;.	1.968252	0.25002	16.60	0.9141523931608313	0.20682	0.17327	0.19789	N	AEFDBCI	0.075624	0.15190	N	-0.999483017804939	0.08614	0.4046071	-0.86169543767509	0.13006	0.6723406	0.99833092572266	0.36777	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.1	0.096	0.13797	-0.029000	0.12278	0.668000	0.20568	-0.323000	0.05837	0.043000	0.21118	1.000000	0.68203	0.929000	0.46594	0.0:0.397:0.0:0.603	6.649	0.22140	982	0.03397	.;Speriolin, C-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	.	.	.	.	.	.	.	.	0.05	541.43	36	chr21	46162029	.	C	A	541.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.21;DP=404;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=7.96;ReadPosRankSum=0.351;SOR=0.716	GT:AD:DP:GQ:PL	0/1:41,27:68:99:553,0,915	9	0	1	0
chr21	46357070	46357070	A	G	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon13:c.A1679G:p.K560R,PCNT:NM_006031:exon13:c.A2033G:p.K678R	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	0	1517	5	0	0	5	0.00164528	.	.	YES	265806	not_provided|not_specified|PCNT-related_disorder|Microcephalic_osteodysplastic_primordial_dwarfism_type_II	MedGen:C3661900|MedGen:CN169374|.|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.026	0.0118142633152	0.0003	0.00139776	0.0016	0	8.639e-05	0	0.0077	0.0006	0	0.0062	0.0013777	213	154602	rs149623054	0.0008	0.0008	0.0007	0.0009	0.0054	0.0007	0.0007	0.0050	0.0049	0	0.0001	0.0016	0	0.0075	0.0014	0.0001	0.0010	0.0054	0.0010	0.0010	0.0006	0.0014	0.0048	0.0009	0.0008	0.0033	0.0028	4.81e-05	0	0.0003	0.0020	0	0.0084	0.0034	0.0003	0.0005	0.0048	0.467	0.08559	T	0.537	0.09863	T	0.024	0.19075	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	1.155	0.29575	L	4.84	0.01481	T	-0.64	0.18670	N	0.061	0.03283	-0.9074	0.47168	T	0.005	0.01615	T	9	0.004591584	0.00096	T	0.011814	0.29802	T	0.026	0.05648	.	.	0.368369118721	0.36443	0.020117236672275794	0.01964	0.25641772079	0.28219	0.280552625656	0.07569	T	0.035494	0.23742	T	-0.577116	0.00201	T	-0.599844	0.12825	T	0.0191197395817799	0.00620	T	0.535046	0.17917	T	0.06112981	0.12624	0.037989493	0.03569	0.06112981	0.12624	0.037989493	0.03568	-3.291	0.13621	T	.	.	0.087	0.11027	B	.	.	1.121635	0.15074	11.57	0.91520135386346169	0.20795	0.27661	0.23340	N	AEFDGBCIJ	0.028903	0.02632	N	-0.865373487050342	0.11673	0.5646436	-0.879794456630278	0.12573	0.6475458	0.999686271407791	0.41756	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	-1.26	0.08892	0.312000	0.19147	0.506000	0.19038	0.756000	0.94297	0.949000	0.33028	0.027000	0.21108	0.046000	0.14843	0.5038:0.0:0.34:0.1562	4.130	0.09612	976	0.04745	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1354.43	50	chr21	46357070	.	A	G	1354.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.575;DP=484;ExcessHet=0;FS=1.58;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.172;SOR=0.496	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1366,0,1463	9	0	1	0
chr21	46644435	46644435	G	A	exonic	PRMT2	.	nonsynonymous SNV	PRMT2:NM_001242864:exon4:c.G274A:p.D92N,PRMT2:NM_001242865:exon4:c.G274A:p.D92N,PRMT2:NM_001242866:exon4:c.G274A:p.D92N,PRMT2:NM_001286676:exon4:c.G274A:p.D92N,PRMT2:NM_001286677:exon4:c.G274A:p.D92N,PRMT2:NM_001286678:exon4:c.G274A:p.D92N,PRMT2:NM_001535:exon4:c.G274A:p.D92N,PRMT2:NM_206962:exon5:c.G274A:p.D92N	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.159	0.0297116877802	7.7e-05	0.000399361	0.0006	9.61e-05	8.637e-05	0	0	0.0002	0	0.0037	0.0005045	78	154602	rs368371949	0.0003	0.0003	0.0002	0.0004	0.0036	0.0003	0.0003	0.0033	0.0031	3.039e-05	7.057e-05	0.0016	0	0	0.0009	4.242e-05	0.0004	0.0036	0.0003	0.0003	0.0002	0.0004	0.0039	0.0002	0.0002	0.0026	0.0021	4.814e-05	0	0.0003	0.0020	0	0	0.0034	8.822e-05	0.0005	0.0039	0.108	0.32610	T	0.076	0.48594	T	0.765	0.43734	P	0.09	0.29851	B	0.245791	0.15614	N	0.662303	0.96647	0.38532	D	0.31	0.10265	N	1.23	0.64818	T	-1.55	0.37566	N	0.22	0.40565	-0.6489	0.62762	T	0.344	0.70956	T	10	0.010130763	0.00227	T	0.029712	0.52165	D	0.159	0.41286	.	.	0.745666496146	0.74337	0.2334560231516428	0.23260	0.875556418809	0.69553	0.504767417908	0.39493	T	0.292313	0.66504	T	-0.471031	0.00837	T	-0.450218	0.27673	T	0.0413580048778191	0.03938	T	0.909209	0.68535	D	0.09193214	0.21556	0.08043132	0.18192	0.09193214	0.21556	0.08043132	0.18192	-6.397	0.50992	T	.	.	0.116	0.25000	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.901546	0.38459	20.7	0.98603844435972243	0.43546	0.93948	0.59658	D	AEFBI	0.697419	0.65543	D	0.161174955586193	0.49343	3.135714	0.123962002689382	0.45776	2.834937	0.999999999864039	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.4	5.4	0.77957	4.835000	0.62471	9.514000	0.80924	0.618000	0.50648	0.826000	0.30074	1.000000	0.68203	0.020000	0.11549	0.0:0.0:1.0:0.0	17.049	0.86386	867	0.32089	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.002924	0.000000	0.000000	0.000000	0.000000	0.05	1438.43	33	chr21	46644435	.	G	A	1438.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.179;DP=458;ExcessHet=0;FS=2.993;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.012;SOR=0.704	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1450,0,1654	9	0	1	0
chr22	15528187	15528187	G	A	exonic	OR11H1	.	nonsynonymous SNV	OR11H1:NM_001005239:exon1:c.G29A:p.G10D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00194894870343	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs549380368	4.984e-06	1.712e-05	5.693e-06	4.274e-06	9.222e-05	2.07e-06	1.33e-06	2.443e-05	1.277e-05	9.222e-05	0	0	7.622e-05	0	0	9.421e-07	0	0	5.278e-05	7.22e-05	5.16e-05	5.402e-05	0.0002	2.566e-05	1.837e-05	9.588e-05	6.979e-05	0.0002	0	0	0	0	0	0	0	0	0	0.61	0.05468	T	0.392	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.89	0.00001	T	-0.43	0.14390	N	0.096	0.07673	-1.2616	0.00003	T	0.000	0.00039	T	7	0.08759901	0.15003	T	0.107185	0.78314	D	.	.	0.377	0.39156	0.45212351173	0.44835	0.26472902336126547	0.26385	.	.	0.43172198534	0.29444	T	0.001975	0.01384	T	-0.322482	0.06696	T	-0.701	0.05771	T	0.0358192599351296	0.02950	T	0.325267	0.06676	T	.	.	.	.	.	.	.	.	-4.021	0.24117	T	.	.	0.063	0.01470	B	.	.	0.343213	0.07169	3.752	0.57186098607399849	0.05714	0.00035	0.00307	N	AEFI	0.015273	0.00283	N	-1.35635181669614	0.03059	0.1360845	-1.42178285214135	0.03035	0.140812	1.12885909207597E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-1.362000	0.02701	.	.	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	39.43	79	chr22	15528187	.	G	A	39.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.971;DP=850;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=34.23;MQRankSum=0.315;QD=0.33;ReadPosRankSum=-2.658;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,13:121:51:1|0:15528179_G_T:51,0,3756:15528179	9	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.6	25769.9	170	chr22	18925165	.	A	G	25769.9	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.855;DP=1326;ExcessHet=0.0072;FS=0.629;InbreedingCoeff=0.5833;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=21.55;ReadPosRankSum=0.848;SOR=0.79	GT:AD:DP:GQ:PL	1/1:0,155:155:99:4491,465,0	3	5	2	0
chr22	19962734	19962734	G	A	exonic	COMT	.	nonsynonymous SNV	COMT:NM_007310:exon1:c.G58A:p.G20R,COMT:NM_000754:exon3:c.G208A:p.G70R,COMT:NM_001135161:exon3:c.G208A:p.G70R,COMT:NM_001135162:exon3:c.G208A:p.G70R,COMT:NM_001362828:exon3:c.G208A:p.G70R	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.505	0.342445407757	.	0.000199681	3.329e-05	0.0002	0	0	0	0	0	0.0001	3.23e-05	5	154602	rs149909767	4.79e-06	4.788e-06	2.723e-06	6.877e-06	3.478e-05	1.99e-06	1.28e-06	9.24e-06	4.56e-06	0	0	0	2.519e-05	0	0	8.993e-07	3.312e-05	3.478e-05	1.969e-05	1.968e-05	0	4.028e-05	7.215e-05	5.24e-06	2.45e-06	1.913e-05	1.03e-05	7.215e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	N	0.048408	0.999998	0.58761	D	2.985	0.85602	M	-0.48	0.97753	T	-7.86	0.96085	D	0.329	0.40264	0.441	0.89705	D	0.616	0.86431	D	10	0.8913274	0.88475	D	0.342445	0.92051	D	0.505	0.78662	0.453	0.51612	0.983335598377	0.98315	0.8418285972771966	0.84142	0.918071185387	0.71324	0.545649051666	0.45243	T	0.53584	0.84019	D	0.108224	0.65168	D	0.154348	0.80457	D	0.972999691963196	0.69918	D	0.782022	0.41734	T	0.8176523	0.85062	0.7792742	0.86984	0.8176523	0.85063	0.7792742	0.86985	-10.69	0.77930	D	.	.	0.381	0.59268	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.176754	0.62841	24.5	0.99898590409480803	0.97124	0.96526	0.69580	D	AEFDBHCI	0.870450	0.79142	D	0.636201058566478	0.75477	6.313073	0.486661467316937	0.67105	5.039731	0.999999999988779	0.74766	0.645754	0.44609	0	0.643519	0.57511	0	0.52208	0.10781	0	0.723	0.93126	0	.	.	5.5	4.49	0.54177	6.140000	0.71491	3.594000	0.39199	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0768:0.0:0.9232:0.0	13.491	0.60848	729	0.54495	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1662.43	41	chr22	19962734	.	G	A	1662.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.748;DP=510;ExcessHet=0;FS=3.016;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.343;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,75:141:99:0|1:19962712_C_T:1674,0,1600:19962712	9	0	1	0
chr22	20713301	20713301	C	G	exonic	PI4KA	.	nonsynonymous SNV	PI4KA:NM_001362862:exon47:c.G5458C:p.V1820L,PI4KA:NM_001362863:exon47:c.G5485C:p.V1829L,PI4KA:NM_058004:exon48:c.G5551C:p.V1851L	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, Autosomal recessive	421	1056	45	0	0	45	0.0208623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.724	.	.	.	0.0202	0.0063	0.0605	0.0527	0.0082	0.0064	0.0172	0.0338	3.84e-05	1	26028	rs2539908	2.797e-06	1.783e-05	2.776e-06	2.817e-06	4.715e-05	6.5e-07	4.4e-07	7.81e-06	2.92e-06	0	4.715e-05	0	0	1.946e-05	0	9.146e-07	0	0	1.985e-05	0.0002	1.291e-05	2.716e-05	4.854e-05	5.28e-06	2.46e-06	8.04e-06	3.01e-06	4.854e-05	0	0	0	0	0	0	1.475e-05	0	0	0.013	0.53900	D	0.013	0.63109	D	0.073	0.24078	B	0.248	0.38946	B	0.000021	0.62929	D	0.116872	1	0.81001	D	.	.	.	-0.98	0.75789	T	-2.69	0.57435	D	0.869	0.86618	0.369	0.88627	D	0.599	0.85735	D	10	0.01217702	0.00263	T	.	.	.	0.724	0.90280	.	.	0.605592448911	0.60243	0.6654920846434981	0.66486	1.74699568536	0.90943	0.831675469875	0.86819	D	0.79687	0.94779	D	0.229653	0.76689	D	0.0921041	0.76385	D	0.0803201361400897	0.10029	T	0.786621	0.42620	T	0.23820485	0.46695	0.27315837	0.53232	0.30731863	0.53553	0.33544958	0.59358	-11.766	0.83692	D	.	.	0.998	0.97755	P	.;.	.;.	4.749898	0.76689	26.6	0.99595769859117222	0.73866	0.98823	0.87323	D	AEFDBI	0.887850	0.82045	D	0.46259864049377	0.64920	4.757898	0.43892521500404	0.64010	4.646552	0.995158567282838	0.33979	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.69	3.65	0.40985	5.917000	0.69720	7.596000	0.61403	0.570000	0.28895	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.1509:0.8491:0.0:0.0	14.187	0.65154	946	0.12043	Phosphatidylinositol 3/4-kinase, conserved site|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain;Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3/4-kinase, conserved site|Phosphatidylinositol 3-/4-kinase, catalytic domain|Phosphatidylinositol 3-/4-kinase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.014052	0.020833	0.005479	0.026087	0.000000	0.027273	0.014706	0.016949	0.05	30.43	35	chr22	20713301	.	C	G	30.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.74;DP=350;ExcessHet=0;FS=2.163;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=58.25;MQRankSum=-6.661;QD=0.66;ReadPosRankSum=-2.01;SOR=1.576	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,4:46:42:0|1:20713301_C_G:42,0,1752:20713301	9	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	745.45	15	chr22	21216084	.	C	T	745.45	.	AC=8;AF=0.4;AN=20;BaseQRankSum=2.13;DP=155;ExcessHet=10.3881;FS=2.76;InbreedingCoeff=-0.7054;MLEAC=8;MLEAF=0.4;MQ=44.76;MQRankSum=-1.805;QD=6.26;ReadPosRankSum=1.17;SOR=0.539	GT:AD:DP:GQ:PL	0/1:21,2:23:19:19,0,519	2	0	8	0
chr22	21644159	21644159	G	A	exonic	SDF2L1	.	nonsynonymous SNV	SDF2L1:NM_022044:exon3:c.G650A:p.G217D	.	427	1088	6	1	0	8	0.003663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0447191739502	0.0038	0.00159744	0.0027	0.0010	0.0013	0	0.0002	0.0044	0.0011	0.0004	0.0027684	428	154602	rs115168940	0.0038	0.0038	0.0039	0.0038	0.0073	0.0037	0.0037	0.0055	0.0049	0.0013	0.0014	0.0059	0	0.0005	0.0073	0.0045	0.0044	0.0005	0.0024	0.0024	0.0024	0.0025	0.0041	0.0022	0.0022	0.0037	0.0036	0.0008	0	0.0020	0.0049	0	0.0004	0.0034	0.0041	0.0024	0.0002	0.57	0.06184	T	0.681	0.06090	T	0.514	0.37393	P	0.054	0.25828	B	0.016671	0.27917	N	0.371241	0.781482	0.34272	D	1.59	0.40313	L	-1.22	0.78752	T	0.1	0.05810	N	0.266	0.30118	-0.7785	0.56387	T	0.116	0.40986	T	10	0.0073853135	0.00168	T	0.044719	0.61626	D	0.313	0.63482	.	.	0.765095103448	0.76294	0.6927252417250336	0.69212	0.726935891434	0.62541	0.406749486923	0.26007	T	0.009684	0.08804	T	-0.301714	0.08499	T	-0.204249	0.54243	T	0.0133324912370801	0.00240	T	0.620638	0.23835	T	0.1369972	0.31739	0.14080918	0.33553	0.1369972	0.31739	0.14080918	0.33552	-3.821	0.21119	T	.	.	0.099	0.16886	B	.	.	1.904878	0.24190	16.30	0.96348574672304754	0.29506	0.65494	0.32756	D	AEFDGBHCI	0.442773	0.50036	N	-0.60194394863958	0.18886	0.9841236	-0.526318390417999	0.21439	1.159821	0.999999999962908	0.74766	0.722319	0.85440	0	0.672317	0.65289	0	0.630245	0.45026	0	0.735409	0.98432	0	.	.	4.62	3.58	0.40133	1.681000	0.37234	.	.	0.613000	0.49114	0.008000	0.17931	1.000000	0.68203	0.959000	0.51448	0.0:0.1674:0.8326:0.0	12.649	0.56113	946	0.12043	.	.	.	.	.	.	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	0.008056	0.000000	0.013587	0.011696	0.000000	0.000000	0.006098	0.003788	0.1	3231.14	33	chr22	21644159	.	G	A	3231.14	.	AC=2;AF=0.1;AN=20;BaseQRankSum=2.14;DP=493;ExcessHet=0.2348;FS=0;InbreedingCoeff=-0.1111;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=-0.576;SOR=0.704	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1334,0,1183	8	0	2	0
chr22	26310779	26310779	A	G	exonic	SEZ6L	.	nonsynonymous SNV	SEZ6L:NM_001184773:exon7:c.A1624G:p.I542V,SEZ6L:NM_001184774:exon7:c.A1624G:p.I542V,SEZ6L:NM_001184775:exon7:c.A1624G:p.I542V,SEZ6L:NM_001184776:exon7:c.A1624G:p.I542V,SEZ6L:NM_001184777:exon7:c.A1624G:p.I542V,SEZ6L:NM_021115:exon7:c.A1624G:p.I542V	.	424	1094	4	0	0	4	0.00182482	.	.	.	705854	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.092	.	.	0.00698882	0.0052	0	0.0003	0.0001	0	9.002e-05	0.0088	0.0370	0.0044307	685	154602	rs201153704	0.0024	0.0024	0.0014	0.0035	0.0380	0.0023	0.0023	0.0369	0.0365	8.961e-05	8.944e-05	0	5.038e-05	0	0.0014	6.295e-05	0.0025	0.0380	0.0014	0.0014	0.0007	0.0021	0.0421	0.0012	0.0012	0.0373	0.0355	4.813e-05	0	6.535e-05	0	0.0004	0	0	2.941e-05	0.0005	0.0421	0.774	0.04848	T	1.0	0.01155	T	0.007	0.32352	B	0.021	0.30390	B	0.000024	0.55875	D	0.000000	0.999958	0.52396	D	0.91	0.23283	L	1.7	0.26885	T	-0.26	0.12472	N	0.314	0.35620	-1.0936	0.04959	T	0.033	0.14029	T	10	0.0046571195	0.00097	T	.	.	.	0.092	0.26621	.	.	0.151262610727	0.14761	0.3172950724787446	0.31642	0.530585399254	0.50596	0.478166282177	0.35804	T	0.002857	0.28885	T	-0.534999	0.00359	T	-0.512697	0.21039	T	0.0226508922278272	0.00983	T	0.754725	0.37732	T	0.04657927	0.07821	0.070292026	0.14916	0.04657927	0.07820	0.070292026	0.14915	-4.131	0.27513	T	.	.	0.097	0.20780	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.783543	0.22673	15.72	0.30382040753451883	0.01659	0.88814	0.48925	D	AEFDGBI	0.576422	0.57842	D	-0.512700816274117	0.21669	1.151643	-0.337123294966255	0.26910	1.48965	0.921292655432764	0.26666	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.04	5.04	0.67293	2.958000	0.48838	6.936000	0.56975	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.554000	0.30269	1.0:0.0:0.0:0.0	14.281	0.65764	928	0.17405	.;CUB domain|CUB domain|CUB domain|CUB domain;.;.;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB 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	0	0	1	0	0.005539	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.018939	0.05	2989.43	35	chr22	26310779	.	A	G	2989.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.632;DP=551;ExcessHet=0;FS=1.642;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=1.48;SOR=0.847	GT:AD:DP:GQ:PL	0/1:103,128:231:99:3001,0,2266	9	0	1	0
chr22	29480863	29480863	G	T	exonic	NEFH	.	nonsynonymous SNV	NEFH:NM_021076:exon1:c.G601T:p.A201S	Charcot-Marie-Tooth disease, axonal, type 2CC, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3064934	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.492	0.897769238069	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1200689019	6.415e-06	7.525e-06	1.565e-06	1.151e-05	0.0001	2.76e-06	1.99e-06	6.795e-05	4.954e-05	0	0	0	0	0	0	0	0	0.0001	6.577e-06	6.568e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.163	0.23450	T	0.019	0.59159	D	.	.	.	.	.	.	0.002125	0.37183	N	0.000000	0.999189	0.46274	D	.	.	.	-2.44	0.88767	D	-1.81	0.42575	N	0.384	0.42541	0.478	0.90230	D	0.735	0.90930	D	10	0.683918	0.71445	D	0.897769	0.99229	D	0.492	0.77847	0.487	0.57098	0.906718020243	0.90578	0.0794037847154352	0.07875	1.00132167106	0.74418	0.883590042591	0.94440	D	.	.	.	0.0533033	0.58766	T	-0.16121	0.58243	T	0.90866756439209	0.56332	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31733	B	.	.	2.814082	0.37057	20.4	0.98617029883909002	0.43718	0.99305	0.94239	D	AEFBHCIJ	0.805684	0.73020	D	0.388637900373202	0.60806	4.273699	0.302348734661275	0.55676	3.730633	0.999999999999999	0.74766	0.59774	0.34471	0	0.578056	0.33634	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	4.08	4.08	0.46880	6.065000	0.70812	11.239000	0.90365	0.495000	0.22486	1.000000	0.71638	1.000000	0.68203	0.016000	0.10718	0.0:0.0:1.0:0.0	13.896	0.63273	677	0.60274	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	537.43	35	chr22	29480863	.	G	T	537.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.405;DP=353;ExcessHet=0;FS=1.348;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=15.36;ReadPosRankSum=0.405;SOR=0.585	GT:AD:DP:GQ:PL	0/1:14,21:35:99:549,0,315	9	0	1	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	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	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.15	2119.45	34	chr22	31140088	.	A	T	2119.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.78;DP=516;ExcessHet=0.7463;FS=1.108;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=10.34;ReadPosRankSum=-0.032;SOR=0.596	GT:AD:DP:GQ:PL	0/1:47,31:78:99:765,0,1178	7	0	3	0
chr22	36265601	36265601	G	C	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.G711C:p.R237S,APOL1:NM_001362927:exon5:c.G711C:p.R237S,APOL1:NM_001136540:exon6:c.G765C:p.R255S,APOL1:NM_003661:exon6:c.G765C:p.R255S,APOL1:NM_145343:exon7:c.G813C:p.R271S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.000907701874081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.085e-06	0.0006	2.76e-06	1.4e-06	2.728e-06	5.6e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.728e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.30375	T	0.283	0.46632	T	0.002	0.09854	B	0.001	0.04355	B	0.000540	0.00634	N	5.050130	1	0.08975	N	0	0.06538	N	3.93	0.03435	T	-0.32	0.12283	N	0.052	0.05287	-0.9365	0.43164	T	0.006	0.02131	T	10	0.08132845	0.13302	T	9.08E-4	0.00866	T	0.011	0.01250	0.408	0.44230	0.185906805712	0.18197	0.18011142860078055	0.17930	0.0660165172608	0.07365	0.244562089443	0.03216	T	0.00853	0.07826	T	-0.342634	0.05208	T	-0.729947	0.04330	T	0.0890489221116852	0.11104	T	0.716728	0.32905	T	0.07998894	0.18304	0.038347237	0.03684	0.07998894	0.18304	0.038347237	0.03684	-1.822	0.02808	T	.	.	0.273	0.50708	B	.;.;.;.;.	.;.;.;.;.	-2.042542	0.00092	0.002	0.34530247570989991	0.02117	0.00520	0.02423	N	AEFDBI	0.218833	0.34379	N	-1.93437648620656	0.00291	0.01250946	-2.04200221281962	0.00249	0.0109851	0.999770420652857	0.42865	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	3.12	-6.25	0.01863	-2.263000	0.01256	-8.769000	0.00916	-1.311000	0.01235	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2299:0.2804:0.3507:0.139	1.741	0.02774	489	0.76795	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	202.93	164	chr22	36265601	.	G	C	202.93	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-4.251;DP=1274;ExcessHet=0.2348;FS=165.798;InbreedingCoeff=-0.1355;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.67;SOR=9.308	GT:AD:DP:GQ:PL	0/1:149,33:191:99:112,0,3224	8	0	2	0
chr22	37723688	37723688	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C1132T:p.P378S	Deafness, autosomal recessive 28, Autosomal recessive	0	1514	7	1	0	9	0.00296345	.	.	.	1213503	Autosomal_recessive_nonsyndromic_hearing_loss_28|not_provided	MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.016	0.00180592756995	0.0008	0.000798722	0.0010	0.0002	0.0005	0	0.0005	0.0012	0.0011	0.0021	0.0008667	134	154602	rs183024099	0.0007	0.0007	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	5.974e-05	0.0003	7.652e-05	0	0.0004	0.0035	0.0006	0.0009	0.0023	0.0006	0.0006	0.0005	0.0007	0.0023	0.0005	0.0004	0.0013	0.0010	0.0001	0	0.0003	0	0	0.0005	0	0.0009	0.0014	0.0023	0.061	0.37118	T	0.817	0.03863	T	0.045	0.21781	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.13	0.28900	L	2.03	0.20959	T	-0.59	0.17624	N	0.076	0.05037	-1.0034	0.28933	T	0.038	0.16548	T	9	0.0077746212	0.00177	T	0.001806	0.03089	T	0.016	0.02506	.	.	0.223847106136	0.22009	0.04789874257510578	0.04732	0.117284125893	0.13220	0.193930521607	0.00302	T	0.013988	0.11991	T	-0.573058	0.00212	T	-0.602102	0.12634	T	0.000805022622784938	0.00007	T	0.435556	0.11926	T	0.028344397	0.02157	0.039629165	0.04098	0.029824128	0.02540	0.047284674	0.06776	-4.377	0.29244	T	.	.	0.076	0.06069	B	.;.	.;.	0.062877	0.04731	1.363	0.6690620911893076	0.08196	0.06183	0.12167	N	AEFBCI	0.021011	0.00889	N	-1.01697570965288	0.08251	0.3862314	-1.13209244568928	0.07094	0.343778	0.0187579447496675	0.13093	0.631515	0.41029	0	0.588066	0.40923	0	0.697927	0.64325	0	0.586402	0.36253	0	.	.	2.35	-0.167	0.12693	0.058000	0.14178	-0.203000	0.10926	0.598000	0.34611	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.6263:0.2253:0.1484	4.692	0.12168	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.002518	0.005051	0.000000	0.000000	0.000000	0.000000	0.006098	0.007576	0.05	2880.43	109	chr22	37723688	.	C	T	2880.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.095;DP=993;ExcessHet=0;FS=0.478;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.499;SOR=0.747	GT:AD:DP:GQ:PL	0/1:118,117:235:99:2892,0,2947	9	0	1	0
chr22	37768157	37768157	G	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_007032:exon9:c.G1417A:p.G473S,TRIOBP:NM_001039141:exon19:c.G6556A:p.G2186S	Deafness, autosomal recessive 28, Autosomal recessive	2	1510	10	0	0	10	0.00330033	.	.	.	231218	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.014	0.00889148132108	0.0006	0.000599042	0.0006	0.0008	0.0005	0	0	0.0006	0	0.0008	0.0004786	74	154602	rs191901426	0.0004	0.0004	0.0004	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	0.0004	0.0002	0.0003	2.521e-05	0	0.0061	0.0004	0.0008	0.0010	0.0004	0.0004	0.0004	0.0003	0.0010	0.0003	0.0003	0.0004	0.0003	0.0001	0	0.0005	0.0003	0	0	0.0068	0.0005	0	0.0010	0.315	0.13789	T	0.422	0.14034	T	0.024	0.19075	B	0.005	0.11217	B	.	.	.	.	0.99921	0.23853	N	-0.14	0.04484	N	2.24	0.20664	T	-0.84	0.31375	N	0.16	0.16725	-0.9859	0.33615	T	0.016	0.06473	T	9	0.008279085	0.00188	T	0.008891	0.23439	T	0.014	0.01968	.	.	0.253205268125	0.24938	0.06350221973927411	0.06289	0.258245614036	0.28380	0.423331797123	0.28295	T	0.011622	0.10346	T	-0.562184	0.00246	T	-0.67305	0.07414	T	0.0107156518032679	0.00151	T	0.764923	0.39623	T	0.04071498	0.05863	0.05715914	0.10342	0.045274626	0.07382	0.068579115	0.14340	-3.564	0.22438	T	.	.	0.082	0.08948	B	.;.;.	.;.;.	2.722786	0.35617	19.95	0.97346928616857309	0.33505	0.70160	0.34476	D	AEFGBCI	0.119296	0.23289	N	-0.617639284489508	0.18415	0.9558382	-0.410331147442293	0.24693	1.354	0.998590507875126	0.37268	0.67177	0.52595	0	0.643519	0.57511	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.01	1.64	0.22949	1.488000	0.35160	6.434000	0.55639	0.662000	0.56354	0.791000	0.29607	1.000000	0.68203	0.987000	0.62547	0.3357:0.0:0.5106:0.1537	4.545	0.11478	809	0.43032	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.005539	0.005051	0.008152	0.011696	0.000000	0.000000	0.003049	0.000000	0.05	913.43	33	chr22	37768157	.	G	A	913.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.793;DP=418;ExcessHet=0;FS=0;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.62;ReadPosRankSum=-1.153;SOR=0.613	GT:AD:DP:GQ:PL	0/1:48,38:86:99:925,0,1194	9	0	1	0
chr22	42128812	42128812	A	G	exonic	CYP2D6;CYP2D7	.	nonsynonymous SNV	CYP2D6:NM_001025161:exon3:c.T485C:p.L162P,CYP2D6:NM_000106:exon4:c.T638C:p.L213P	.	1	1317	204	0	0	204	0.0718816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557	0.0602619546016	.	.	0.0034	0.0012	0.0015	0.0014	0.0018	0.0047	0.0040	0.0021	0.0023544	364	154602	rs199535154	0.0003	0.0094	0.0003	0.0003	0.0022	0.0002	0.0002	0.0013	0.0011	0.0015	0.0003	0.0004	0.0006	0.0006	0.0022	0.0002	0.0003	0.0003	0.0001	0.0016	6.523e-05	0.0002	0.0004	7.691e-05	6.376e-05	0.0001	8.654e-05	0.0002	0	0	0	0.0004	0	0	0.0001	0	0	0.016	0.72154	D	0.004	0.74150	D	.	.	.	.	.	.	0.079050	0.21007	N	0.393637	0.984414	0.40142	D	3.135	0.88152	M	-1.43	0.80730	T	-5.73	0.87611	D	0.817	0.81261	0.414	0.89311	D	0.663	0.88295	D	10	0.12101528	0.22933	T	0.060262	0.67943	D	0.557	0.81774	.	.	0.906819982349	0.90588	0.8191287958858098	0.81869	0.67802315983	0.59861	0.312496066093	0.12283	T	0.044594	0.40051	T	0.029515	0.55659	T	0.219179	0.84132	D	0.250423282384872	0.22892	T	0.739826	0.35853	T	0.5728783	0.71218	0.38634163	0.63529	0.5728783	0.71219	0.38634163	0.63529	-9.555	0.71201	D	.	.	0.479	0.69738	A	.;.;.;.;.	.;.;.;.;.	3.184167	0.43231	21.7	0.99267575361889293	0.57423	0.11286	0.16533	N	AEFDBI	0.398871	0.47438	N	0.0379738385441093	0.43589	2.64896	-0.230169009795182	0.30461	1.715271	5.06273264100705E-4	0.07176	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	3.52	3.52	0.39415	2.920000	0.48541	1.949000	0.29874	-0.094000	0.16080	0.013000	0.18845	0.000000	0.08366	0.000000	0.00833	1.0:0.0:0.0:0.0	8.696	0.33455	106	0.95650	.;.;.;.;.	.	.	.	.	.	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	0.018182	0.005747	0.016484	0.050420	0.000000	0.043860	0.003546	0.004065	0.15	1737.45	37	chr22	42128812	.	A	G	1737.45	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.4;DP=1007;ExcessHet=0.7463;FS=13.924;InbreedingCoeff=-0.1765;MLEAC=3;MLEAF=0.15;MQ=51.79;MQRankSum=-8.092;QD=2.38;ReadPosRankSum=-4.665;SOR=2.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,19:211:99:0|1:42128812_A_G:220,0,7996:42128812	7	0	3	0
chr22	44916594	44916594	C	T	exonic	PHF21B	.	nonsynonymous SNV	PHF21B:NM_001242450:exon4:c.G214A:p.V72I,PHF21B:NM_138415:exon4:c.G250A:p.V84I,PHF21B:NM_001135862:exon5:c.G250A:p.V84I	.	421	1088	12	1	0	14	0.00639269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0104042366725	0.0043	0.00179712	0.0036	0.0009	0.0035	0	0.0027	0.0051	0.0058	0.0015	0.003965	613	154602	rs138308961	0.0049	0.0049	0.0049	0.0048	0.0076	0.0048	0.0048	0.0058	0.0055	0.0010	0.0034	0.0036	0.0001	0.0027	0.0076	0.0056	0.0042	0.0015	0.0039	0.0039	0.0043	0.0036	0.0064	0.0037	0.0036	0.0059	0.0057	0.0010	0	0.0037	0.0052	0.0010	0.0025	0.0034	0.0064	0.0024	0.0023	0.213	0.19430	T	1.0	0.03286	T	0.002	0.09854	B	0.001	0.04355	B	0.525238	0.11697	N	0.752021	1	0.08975	N	-0.695	0.01866	N	1.79	0.26588	T	-0.48	0.15379	N	0.09	0.06854	-0.9591	0.39349	T	0.017	0.07187	T	10	0.0038067102	0.00071	T	0.010404	0.26893	T	0.022	0.04323	.	.	0.043077524339	0.03247	0.1004894143022053	0.09979	0.221649798542	0.24701	0.321861863136	0.13703	T	0.002552	0.01944	T	-0.573847	0.00210	T	-0.593343	0.13378	T	0.00159362167491895	0.00016	T	0.708829	0.33695	T	0.027578209	0.01969	0.025226051	0.00561	0.027578209	0.01969	0.025226051	0.00561	-4.674	0.33088	T	.	.	0.075	0.09530	B	.;.;.;.	.;.;.;.	0.112492	0.05115	1.646	0.7899496041791233	0.12543	0.27577	0.23316	N	AEFDBI	0.052872	0.09477	N	-1.13130737173451	0.06093	0.2795663	-1.02488837871269	0.09239	0.4585332	0.996356704372072	0.34689	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	5.06	-4.81	0.02948	0.705000	0.25350	-5.986000	0.01532	-0.828000	0.02899	0.994000	0.38300	0.000000	0.08366	0.908000	0.44358	0.0:0.2463:0.1133:0.6404	8.736	0.33686	982	0.03397	.;.;.;.	.	.	.	.	.	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	0.004545	0.000000	0.006793	0.000000	0.000000	0.008621	0.003049	0.007576	0.05	680.43	36	chr22	44916594	.	C	T	680.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.815;DP=419;ExcessHet=0;FS=1.968;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=1.83;SOR=1.044	GT:AD:DP:GQ:PL	0/1:42,31:73:99:692,0,917	9	0	1	0
chr22	50504410	50504410	G	A	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon12:c.C1573T:p.H525Y,LMF2:NM_033200:exon12:c.C1648T:p.H550Y	.	.	.	.	.	.	.	.	.	.	.	2357802	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.038	0.0129807038453	.	.	2.539e-05	0	0	0.0002	0.0002	0	0	0	1.94e-05	3	154602	rs780084108	2.123e-05	2.121e-05	1.635e-05	2.615e-05	0.0002	1.521e-05	1.326e-05	6.512e-05	4.449e-05	5.975e-05	0	0	0.0002	3.828e-05	0	1.709e-05	1.657e-05	1.159e-05	6.581e-06	1.313e-05	0	1.347e-05	2.419e-05	0	0	.	.	2.419e-05	0	0	0	0	0	0	0	0	0	0.103	0.36709	T	1.0	0.01155	T	0.326	0.33151	B	0.285	0.40506	B	0.072820	0.21386	N	0.508491	0.986481	0.24612	N	2.585	0.75554	M	2.0	0.21473	T	-1.72	0.40850	N	0.466	0.50237	-0.9761	0.35882	T	0.132	0.44406	T	10	0.13219777	0.25161	T	0.012981	0.32017	T	0.063	0.18251	0.384	0.40298	0.0138822411134	0.00435	0.405017126622431	0.40417	.	.	0.515106201172	0.40938	T	0.101563	0.40844	T	-0.364968	0.03857	T	-0.432027	0.29705	T	0.0540959283001503	0.06205	T	0.689731	0.29897	T	0.049853615	0.08915	0.06583013	0.13397	0.049853615	0.08915	0.06583013	0.13396	-8.284	0.62988	D	.	.	0.087	0.14108	B	.;.	.;.	1.276007	0.16750	12.74	0.94384705840035754	0.24761	0.09686	0.15386	N	AEFDBI	0.169139	0.29595	N	-0.272555152267224	0.30211	1.682488	-0.36775310906194	0.25965	1.431206	0.999654676407947	0.41424	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.645665	0.59343	0	.	.	5.93	0.919	0.18518	1.367000	0.33809	2.329000	0.32183	0.674000	0.70861	0.997000	0.40164	1.000000	0.68203	0.088000	0.17685	0.244:0.0:0.622:0.134	6.555	0.21654	721	0.55360	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05	1622.43	40	chr22	50504410	.	G	A	1622.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.151;DP=556;ExcessHet=0;FS=3.477;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=9.38;ReadPosRankSum=0.217;SOR=0.54	GT:AD:DP:GQ:PL	0/1:96,77:173:99:1634,0,2159	9	0	1	0
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F,MID1:NM_001193280:exon6:c.C1180T:p.L394F,MID1:NM_001193278:exon7:c.C1447T:p.L483F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	920.64	163	chrX	10469688	.	G	A	920.64	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.436;DP=881;ExcessHet=10.3881;FS=119.423;InbreedingCoeff=-0.6423;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.17;ReadPosRankSum=0.916;SOR=9.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,16:123:10:0|1:10469688_G_A:10,0,3657:10469688	2	0	8	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C,MID1:NM_001193280:exon6:c.A1178G:p.Y393C,MID1:NM_001193278:exon7:c.A1445G:p.Y482C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	1125.6	164	chrX	10469690	.	T	C	1125.6	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.496;DP=905;ExcessHet=10.3881;FS=128.174;InbreedingCoeff=-0.638;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.4;ReadPosRankSum=1.08;SOR=9.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,16:123:10:0|1:10469688_G_A:10,0,3657:10469688	2	0	8	0
chrX	12721496	12721496	A	G	exonic	FRMPD4	.	nonsynonymous SNV	FRMPD4:NM_001368396:exon17:c.A4933G:p.K1645E,FRMPD4:NM_001368397:exon17:c.A4927G:p.K1643E,FRMPD4:NM_001368395:exon19:c.A5038G:p.K1680E	Mental retardation, X-linked 104, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.125	35.14	2	chrX	12721496	.	A	G	35.14	.	AC=1;AF=0.125;AN=8;BaseQRankSum=-0.967;DP=9;ExcessHet=0;FS=0;MLEAC=2;MLEAF=0.25;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.967;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:32:40,0,32	3	0	1	6
chrX	24364309	24364312	GCTC	0	exonic	SUPT20HL1	.	.	.	.	367	1045	21	4	85	114	0.0136857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	387.08	116	chrX	24364309	.	GCTC	*	387.08	.	AC=2;AF=0.1;AN=20;DP=706;ExcessHet=0.0405;FS=3.191;InbreedingCoeff=0.5699;MLEAC=2;MLEAF=0.1;MQ=60;QD=4.96;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,19:21:0:0|1:24364308_TG_T:681,0,0:24364308	8	0	2	0
chrX	24364312	24364336	CCTGCTCCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	385	1083	16	7	31	61	0.0136612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	891.6	89	chrX	24364312	.	CCTGCTCCTGCTCTAGCTGCTGCTG	*	891.6	.	AC=5;AF=0.313;AN=16;BaseQRankSum=0.018;DP=696;ExcessHet=0.0135;FS=6.879;InbreedingCoeff=0.3406;MLEAC=6;MLEAF=0.375;MQ=59.94;MQRankSum=0;QD=5.24;ReadPosRankSum=3.95;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19:20:99:1|1:24364308_TG_T:2298,139,0:24364308	5	2	1	2
chrX	24364318	24364336	CCTGCTCTAGCTGCTGCTG	0	exonic	SUPT20HL1	.	.	.	.	394	1076	19	5	28	57	0.0132967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	516.19	42	chrX	24364318	.	CCTGCTCTAGCTGCTGCTG	*	516.19	.	AC=4;AF=0.2;AN=20;DP=658;ExcessHet=0.0135;FS=6.879;InbreedingCoeff=0.5238;MLEAC=4;MLEAF=0.2;MQ=60;MQRankSum=0;QD=4.23;ReadPosRankSum=3.91;SOR=1.071	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19:20:99:1|1:24364308_TG_T:2298,139,0:24364308	7	1	2	0
chrX	43711977	43711977	G	C	splicing	MAOA	NM_001270458:exon5:c.12+1G>C;NM_000240:exon4:c.411+1G>C	.	.	Brunner syndrome, X-linked recessive	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.832e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.736392	0.99964	D	0.82	0.99964	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.369539	0.90025	31	0.99460041581299097	0.65736	0.98664	0.85307	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.99999999999883	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.958413	0.64584	5.48	5.48	0.80675	8.797000	0.91506	11.725000	0.94886	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	18.419	0.90527	571	0.70397	.;.	.	.	.	.	.	Pathogenic	1	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05	117.82	60	chrX	43711977	.	G	C	117.82	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-2.379;DP=423;ExcessHet=0;FS=79.785;InbreedingCoeff=-0.0781;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=0.751;SOR=6.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,19:75:99:.:.:129,0,979:.	9	0	1	0
chrX	49177028	49177028	G	A	exonic	PRICKLE3	.	nonsynonymous SNV	PRICKLE3:NM_001307979:exon8:c.C926T:p.P309L,PRICKLE3:NM_006150:exon8:c.C1130T:p.P377L	.	425	1094	2	1	0	4	0.00182482	.	.	.	2672483	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.062	0.0682883945711	0.0008	.	0.0004	0	0.0001	0	0	0.0007	0.0023	0	0.0003558	55	154602	rs146977278	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0004	3.795e-05	0.0004	0.0007	0	2.491e-05	0.0005	0.0004	0.0005	0.0001	0.0002	0.0002	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	3.221e-05	0	0.0004	0.0004	0	0	0	0.0004	0.0006	0	.	.	.	0.014	0.62352	D	0.179	0.28995	B	0.024	0.20255	B	0.826197	0.09141	N	0.893166	0.999771	0.20412	N	0.975	0.24501	L	-0.41	0.69413	T	.	.	.	0.1	0.08227	-0.9910	0.32347	T	0.152	0.48170	T	10	0.039325178	0.02414	T	0.068288	0.70409	D	.	.	.	.	0.227934060464	0.22382	0.2038643009975765	0.20303	.	.	0.466102302074	0.34146	T	0.048143	0.27930	T	-0.506863	0.00523	T	-0.606165	0.12298	T	0.020521925720414	0.00752	T	0.785921	0.42389	T	0.04416957	0.07014	0.06827266	0.14237	0.04416957	0.07013	0.06827266	0.14236	-6.389	0.49424	T	.	.	0.079	0.07130	B	.;.	.;.	1.510766	0.19408	14.25	0.90563371248063629	0.19818	0.06321	0.12318	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.999999887207933	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.39	2.59	0.30091	0.807000	0.26800	5.012000	0.46677	-0.121000	0.13915	0.001000	0.13787	0.994000	0.32194	0.001000	0.02609	0.0:0.1923:0.6043:0.2033	6.734	0.22585	33	0.98110	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.000696	0.000000	0.001859	0.000000	0.000000	0.000000	0.000000	0.000000	0.05	901.43	43	chrX	49177028	.	G	A	901.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.387;DP=404;ExcessHet=0;FS=3.046;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=1.86;SOR=0.407	GT:AD:DP:GQ:PL	0/1:39,38:77:99:913,0,913	9	0	1	0
chrX	49248482	49248482	G	A	exonic	CCDC22	.	nonsynonymous SNV	CCDC22:NM_014008:exon11:c.G1288A:p.A430T	Ritscher-Schinzel syndrome 2, X-linked recessive	420	1072	18	12	0	42	0.0192132	.	.	.	101446	Ritscher-Schinzel_syndrome_2|not_specified|not_provided	MONDO:MONDO:0010499,MedGen:C4225419,OMIM:300963,Orphanet:7|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.181	.	0.0053	0.00582781	0.0082	0.0008	0.0022	0	0.0221	0.0117	0.0114	0.0042	0.007225	1117	154602	rs144632022	0.0078	0.0078	0.0079	0.0077	0.0247	0.0077	0.0076	0.0209	0.0194	0.0011	0.0036	0.0105	0	0.0186	0.0247	0.0081	0.0080	0.0040	0.0060	0.0061	0.0062	0.0054	0.0082	0.0056	0.0054	0.0076	0.0073	0.0012	0	0.0044	0.0083	0.0003	0.0179	0.0092	0.0082	0.0059	0.0019	0.152	0.24468	T	0.537	0.09863	T	0.992	0.64738	D	0.666	0.52990	P	0.004755	0.33426	N	0.310015	0.553096	0.31318	N	2.25	0.63811	M	.	.	.	-0.65	0.18877	N	0.1	0.08227	-0.7477	0.58055	T	0.129	0.43767	T	9	0.008079827	0.00183	T	.	.	.	0.181	0.45247	.	.	0.704060556882	0.70149	0.04173131593554087	0.04118	0.440805406712	0.44083	0.524738907814	0.42294	T	0.205176	0.56416	T	-0.355553	0.04388	T	-0.276539	0.47159	T	0.0165678910958323	0.00418	T	0.925307	0.72522	D	0.14986268	0.34145	0.18517926	0.41615	0.14986268	0.34144	0.18517926	0.41614	-5.044	0.37314	T	0.2009483441160326	0.26683	0.094	0.14293	B	.	.	3.193679	0.43402	21.7	0.99910940227758416	0.98022	0.94361	0.60920	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99996077201853	0.48965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.19	5.19	0.71428	4.632000	0.61009	7.481000	0.59259	0.672000	0.70159	0.991000	0.37257	1.000000	0.68203	0.836000	0.39433	0.0:0.1609:0.8391:0.0	12.854	0.57257	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.020862	0.013605	0.016760	0.015810	0.071429	0.000000	0.053097	0.010526	0.15	1628.43	37	chrX	49248482	.	G	A	1628.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=1.63;DP=423;ExcessHet=0;FS=1.409;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.611;SOR=0.871	GT:AD:DP:GQ:PL	0/1:66,31:97:99:686,0,1588	8	1	1	0
chrX	49332776	49332776	A	T	exonic	GAGE13;GAGE2D;GAGE2E;GAGE8	.	nonsynonymous SNV	GAGE2D:NM_001098407:exon2:c.A39T:p.R13S,GAGE13:NM_001098412:exon2:c.A39T:p.R13S,GAGE2E:NM_001127200:exon2:c.A39T:p.R13S,GAGE8:NM_012196:exon2:c.A39T:p.R13S	.	548	918	55	1	0	57	0.0301109	.	.	.	3977508	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.009	0.0963211805793	.	.	0.0021	0	0	0.0870	0	0	0	0.0127	.	.	.	rs782197330	0.0004	0.0024	0.0006	1.027e-05	0.0011	0.0004	0.0004	0.0008	0.0007	0.0002	0.0011	0.0007	0.0004	0.0004	0.0006	0.0004	0.0003	0.0002	0.0003	0.0033	0.0004	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0	0	0	0	0.0015	0	0.0005	0	0	.	.	.	0.065	0.44702	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.179	0.19325	-1.0272	0.21363	T	0.034	0.14639	T	8	0.10150775	0.18551	T	0.096321	0.76582	D	.	.	.	.	0.0551355673512	0.04727	0.044374252869738985	0.04381	.	.	0.481666773558	0.36287	T	0.023792	0.18095	T	-0.449224	0.01141	T	-0.883056	0.00629	T	0.489776283502579	0.32256	T	0.334567	0.07109	T	0.41984916	0.62081	0.30143943	0.56176	0.41984916	0.62082	0.30143943	0.56175	-4.846	0.35123	T	.	.	0.287	0.51951	B	.	.	1.310242	0.17132	12.98	0.98174813158402829	0.38890	0.00875	0.03461	N	AEFI	.	.	.	.	.	.	.	.	.	1.42886845054689E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	0.78	0.17701	-0.334000	0.07927	-1.097000	0.06340	-0.565000	0.04808	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	53	0.97589	GAGE|GAGE	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.034783	0.047619	0.007092	0.026316	0.000000	0.000000	0.106383	0.062500	0.05	95.71	12	chrX	49332776	.	A	T	95.71	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.967;DP=94;ExcessHet=0;FS=0;InbreedingCoeff=0.1192;MLEAC=1;MLEAF=0.05;MQ=33.73;MQRankSum=0.967;QD=15.95;ReadPosRankSum=1.38;SOR=0.707	GT:AD:DP:GQ:PL	0/1:1,5:6:8:107,0,8	9	0	1	0
chrX	55090045	55090045	T	A	exonic	PAGE2	.	nonsynonymous SNV	PAGE2:NM_207339:exon2:c.T25A:p.S9T	.	440	1057	19	6	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	.	0.0048	0.00344371	0.0043	0.0002	0.0030	0	0.0062	0.0060	0.0095	0.0023	0.0044566	689	154602	rs150926284	0.0049	0.0050	0.0049	0.0050	0.0318	0.0048	0.0048	0.0273	0.0256	0.0013	0.0070	0.0217	0	0.0058	0.0318	0.0046	0.0066	0.0028	0.0049	0.0050	0.0048	0.0052	0.0119	0.0046	0.0045	0.0102	0.0095	0.0008	0	0.0119	0.0177	0	0.0054	0.0187	0.0057	0.0066	0.0011	0.049	0.46513	D	0.055	0.50809	T	0.771	0.43934	P	0.412	0.44859	B	.	.	.	.	1	0.08975	N	2.36	0.67893	M	2.91	0.10008	T	-1.51	0.48687	N	0.129	0.12341	-1.0673	0.10017	T	0.024	0.10329	T	9	0.0045550764	0.00094	T	.	.	.	0.060	0.17295	.	.	0.328752806141	0.32485	0.018657148972269076	0.01819	0.136816043676	0.15430	.	.	.	0.028316	0.20539	T	-0.809942	0.00006	T	-0.932476	0.00322	T	0.00985324527288945	0.00130	T	0.657134	0.28166	T	0.09552606	0.22482	0.12426142	0.29954	0.09552606	0.22482	0.12426142	0.29953	-4.322	0.28484	T	.	.	0.127	0.27039	B	.;.;.	.;.;.	-0.125858	0.03490	0.654	0.88367974457232812	0.17922	0.00387	0.01950	N	AEFI	.	.	.	.	.	.	.	.	.	4.44181529862095E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.921	-1.84	0.07387	-0.577000	0.05940	-5.748000	0.01609	0.257000	0.18371	0.000000	0.06391	0.000000	0.08366	0.249000	0.23237	0.3306:0.2742:0.0:0.3952	1.402	0.02137	284	0.88763	GAGE|GAGE;GAGE|GAGE;GAGE|GAGE	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.037625	0.000000	0.056180	0.047337	0.000000	0.024096	0.011561	0.018293	0.05	822.43	42	chrX	55090045	.	T	A	822.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-1.427;DP=423;ExcessHet=0;FS=0.805;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.91;MQRankSum=1;QD=9.79;ReadPosRankSum=-0.971;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,41:84:99:0|1:55090033_C_G:834,0,923:55090033	9	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6	158397.0	692	chrX	55146104	.	G	A	158397.0	.	AC=12;AF=0.6;AN=20;BaseQRankSum=0.32;DP=6323;ExcessHet=10.3881;FS=0;InbreedingCoeff=-0.6653;MLEAC=12;MLEAF=0.6;MQ=60;MQRankSum=0;QD=25.85;ReadPosRankSum=0.287;SOR=0.699	GT:AD:DP:GQ:PL	0/1:144,520:664:99:15752,0,2016	0	2	8	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3333	11747.7	759	chrX	55146139	.	G	A	11747.7	.	AC=6;AF=0.333;AN=18;BaseQRankSum=-0.35;DP=6406;ExcessHet=4.5998;FS=0;InbreedingCoeff=-0.4815;MLEAC=6;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.98;ReadPosRankSum=1.78;SOR=0.663	GT:AD:DP:GQ:PL	0/1:593,131:724:99:1368,0,17403	3	0	6	1
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3889	17194.3	727	chrX	55146173	.	G	A	17194.3	.	AC=7;AF=0.389;AN=18;BaseQRankSum=-0.183;DP=6264;ExcessHet=7.0302;FS=0.657;InbreedingCoeff=-0.6;MLEAC=7;MLEAF=0.389;MQ=60;MQRankSum=0;QD=3.88;ReadPosRankSum=-1.269;SOR=0.764	GT:AD:DP:GQ:PL	0/1:553,155:708:99:3673,0,18583	2	0	7	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.4	18556.0	651	chrX	55146197	.	G	A	18556.0	.	AC=8;AF=0.4;AN=20;BaseQRankSum=1.77;DP=5678;ExcessHet=10.3881;FS=1.386;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=4.24;ReadPosRankSum=0.06;SOR=0.804	GT:AD:DP:GQ:PL	0/1:486,130:616:99:2695,0,17068	2	0	8	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	134143.0	565	chrX	55146212	.	C	T	134143.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=2.02;DP=5292;ExcessHet=15.1594;FS=0.71;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=26.73;ReadPosRankSum=1.7;SOR=0.564	GT:AD:DP:GQ:PL	0/1:143,420:563:99:13903,0,2338	0	1	9	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T,FAM104B:NM_001166700:exon3:c.T209C:p.I70T,FAM104B:NM_001166701:exon3:c.T206C:p.I69T,FAM104B:NM_001166702:exon3:c.T197C:p.I66T,FAM104B:NM_001166703:exon3:c.T203C:p.I68T,FAM104B:NM_138362:exon3:c.T206C:p.I69T	.	377	953	191	1	0	193	0.0919485	.	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	8214.98	454	chrX	55146226	.	A	G	8214.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=1.09;DP=4470;ExcessHet=4.5998;FS=0.676;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=60;MQRankSum=0;QD=2.83;ReadPosRankSum=0.786;SOR=0.622	GT:AD:DP:GQ:PL	0/1:432,72:504:99:732,0,15939	4	0	6	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S,FAM104B:NM_001166700:exon3:c.G193A:p.G65S,FAM104B:NM_001166701:exon3:c.G190A:p.G64S,FAM104B:NM_001166702:exon3:c.G181A:p.G61S,FAM104B:NM_001166703:exon3:c.G187A:p.G63S,FAM104B:NM_138362:exon3:c.G190A:p.G64S	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	6121.17	451	chrX	55146242	.	C	T	6121.17	.	AC=5;AF=0.25;AN=20;BaseQRankSum=0.896;DP=4085;ExcessHet=2.8389;FS=0;InbreedingCoeff=-0.3339;MLEAC=5;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.81;ReadPosRankSum=0.288;SOR=0.605	GT:AD:DP:GQ:PL	0/1:387,56:443:99:500,0,14534	5	0	5	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.35	12199.0	433	chrX	55146247	.	G	C	12199.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-1.305;DP=3949;ExcessHet=7.0302;FS=0;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.67;ReadPosRankSum=0.28;SOR=0.652	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:347,74:421:99:0|1:55146247_G_C:1815,0,13992:55146247	3	0	7	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12021.9	417	chrX	55146252	.	A	AT	12021.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=0.697;DP=3806;ExcessHet=7.0302;FS=0.667;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.372;SOR=0.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:324,73:397:99:0|1:55146247_G_C:1872,0,13315:55146247	3	0	7	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.55	71226.0	403	chrX	55146254	.	T	C	71226.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=-0.498;DP=3799;ExcessHet=15.1594;FS=1.854;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=19.82;ReadPosRankSum=-1.02;SOR=0.524	GT:AD:DP:GQ:PL	0/1:178,201:379:99:6383,0,5177	0	1	9	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	11620.9	409	chrX	55146255	.	TG	T	11620.9	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.137;DP=3477;ExcessHet=7.0302;FS=0.698;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=4.81;ReadPosRankSum=-0.267;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:313,70:383:99:0|1:55146247_G_C:1886,0,12892:55146247	3	0	7	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.55	71590.0	324	chrX	55146275	.	T	G	71590.0	.	AC=11;AF=0.55;AN=20;BaseQRankSum=0.041;DP=2982;ExcessHet=15.1594;FS=7.491;InbreedingCoeff=-0.8182;MLEAC=11;MLEAF=0.55;MQ=60;MQRankSum=0;QD=25.64;ReadPosRankSum=-3.645;SOR=0.437	GT:AD:DP:GQ:PL	0/1:101,199:300:99:7006,0,2037	0	1	9	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N,FAM104B:NM_001166700:exon3:c.G152A:p.S51N,FAM104B:NM_001166701:exon3:c.G149A:p.S50N,FAM104B:NM_001166702:exon3:c.G140A:p.S47N,FAM104B:NM_001166703:exon3:c.G146A:p.S49N,FAM104B:NM_138362:exon3:c.G149A:p.S50N	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.35	10330.0	270	chrX	55146283	.	C	T	10330.0	.	AC=7;AF=0.35;AN=20;BaseQRankSum=-0.191;DP=2533;ExcessHet=7.0302;FS=1.237;InbreedingCoeff=-0.5385;MLEAC=7;MLEAF=0.35;MQ=60;MQRankSum=0;QD=5.88;ReadPosRankSum=-0.86;SOR=0.773	GT:AD:DP:GQ:PL	0/1:229,45:274:99:458,0,7856	3	0	7	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.25	632.51	118	chrX	74591813	.	G	A	632.51	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-2.041;DP=664;ExcessHet=2.8389;FS=0.949;InbreedingCoeff=-0.3742;MLEAC=5;MLEAF=0.25;MQ=58.42;MQRankSum=-6.076;QD=1.81;ReadPosRankSum=-2.665;SOR=0.746	GT:AD:DP:GQ:PL	0/1:90,18:108:99:238,0,2942	5	0	5	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.4	6265.98	352	chrX	74591904	.	A	G	6265.98	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-3.776;DP=1908;ExcessHet=10.3881;FS=2.691;InbreedingCoeff=-0.6667;MLEAC=8;MLEAF=0.4;MQ=58.48;MQRankSum=-11.5;QD=3.42;ReadPosRankSum=3.83;SOR=0.478	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:292,56:348:99:0|1:74591902_T_A:1472,0,12092:74591902	2	0	8	0
chrX	74591957	74591957	C	T	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.G1358A:p.S453N,RLIM:NM_183353:exon5:c.G1358A:p.S453N	Mental retardation, X-linked 61, X-linked recessive	10	1315	197	0	0	197	0.0696852	.	.	.	2752745	Intellectual_disability,_X-linked_61	MONDO:MONDO:0010506,MedGen:C4283894,OMIM:300978	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.22060859109	.	.	0	0	0	0	0	0	0	0	7.68e-05	2	26028	rs201787580	2.754e-06	0.0004	4.09e-06	0	3.589e-06	7.3e-07	2e-07	9.6e-07	2.7e-07	0	0	0	0	0	0	3.589e-06	0	0	2.789e-05	0.0021	3.904e-05	0	9.85e-05	7.41e-06	3.06e-06	6.46e-06	2.42e-06	0	0	9.85e-05	0	0	0	0	3.895e-05	0	0	0.257	0.16738	T	0.499	0.11227	T	0.0	0.02946	B	0.0	0.01387	B	0.016982	0.27835	N	0.389770	1	0.08975	N	0.685	0.16464	N	-1.6	0.82165	D	-0.42	0.14193	N	0.236	0.26596	-0.8724	0.50349	T	0.310	0.68066	T	10	0.122223884	0.23183	T	0.220609	0.87766	D	0.158	0.41098	.	.	0.557858568325	0.55445	0.312164728673577	0.31129	0.692380051853	0.60661	0.502812802792	0.39220	T	0.172441	0.52093	T	-0.174656	0.24534	T	-0.488658	0.23531	T	0.0512267297337718	0.05713	T	0.508649	0.16166	T	0.07587642	0.17124	0.10946825	0.26384	0.07587642	0.17124	0.10946825	0.26384	-6.705	0.51848	T	.	.	0.087	0.11606	B	.;.	.;.	0.832856	0.12043	8.599	0.64009249238066646	0.07376	0.44947	0.27430	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.995911489112744	0.34405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.98	4.1	0.47196	0.741000	0.25870	0.022000	0.13604	0.599000	0.40250	0.101000	0.22814	0.000000	0.08366	0.960000	0.51673	0.0:0.8818:0.0:0.1182	7.602	0.27251	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.004828	0.013605	0.001855	0.007905	0.000000	0.000000	0.008850	0.000000	0.3	3679.98	394	chrX	74591957	.	C	T	3679.98	.	AC=6;AF=0.3;AN=20;BaseQRankSum=-1.459;DP=1750;ExcessHet=4.5998;FS=3.02;InbreedingCoeff=-0.4286;MLEAC=6;MLEAF=0.3;MQ=58.76;MQRankSum=-13.15;QD=2.3;ReadPosRankSum=-2.776;SOR=1.089	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:346,44:390:99:0|1:74591902_T_A:806,0,14394:74591902	4	0	6	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	238.93	40	chrX	91436668	.	G	A	238.93	.	AC=3;AF=0.15;AN=20;BaseQRankSum=-2.083;DP=730;ExcessHet=0.7463;FS=172.257;InbreedingCoeff=-0.1901;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=0.879;SOR=9.419	GT:AD:DP:GQ:PL	0/1:115,40:155:22:22,0,1961	7	0	3	0
chrX	101837842	101837842	T	C	splicing	NXF5	NM_032946:exon14:c.861-2A>G	.	.	.	.	.	.	.	.	.	.	0.9999	0.848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.734e-06	2.732e-06	2.722e-06	2.756e-06	0.0002	7.3e-07	2e-07	4e-07	1.5e-07	0	0	0	0	0	0.0002	2.377e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0745386	0.40600	T	-0.344846	0.39794	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	3.990415	0.58732	24.0	0.7594037366881613	0.11270	0.98145	0.79986	D	AEFI	.	.	.	.	.	.	.	.	.	0.00562926216291384	0.10996	.	.	.	.	.	.	.	.	.	.	.	.	0.692431	0.42671	2.33	2.33	0.27981	7.306000	0.78218	7.832000	0.70156	0.462000	0.21616	1.000000	0.71638	0.999000	0.35428	0.067000	0.16453	0.0:0.0:0.0:1.0	7.883	0.28794	111	0.95468	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.15	2612.43	34	chrX	101837842	.	T	C	2612.43	.	AC=3;AF=0.15;AN=20;BaseQRankSum=0.819;DP=392;ExcessHet=0;FS=5.216;InbreedingCoeff=0.6078;MLEAC=3;MLEAF=0.15;MQ=59.43;MQRankSum=0.26;QD=22.52;ReadPosRankSum=0.249;SOR=1	GT:AD:DP:GQ:PL	0/1:32,46:78:99:1307,0,818	8	1	1	0
chrX	111744740	111744740	C	T	exonic	ALG13	.	nonsynonymous SNV	ALG13:NM_001099922:exon24:c.C2768T:p.P923L,ALG13:NM_001257231:exon24:c.C2534T:p.P845L	Epileptic encephalopathy, early infantile, 36, X-linked dominant	654	866	1	0	1	2	0.000577034	.	.	.	1300432	Developmental_and_epileptic_encephalopathy,_36|not_provided	MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884,Orphanet:324422|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	0.00412533288095	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1047232159	2.122e-06	4.611e-06	1.484e-06	3.725e-06	2.691e-06	3.5e-07	1.3e-07	4.5e-07	1.7e-07	0	0	0	0	0	0	2.691e-06	0	0	2.109e-05	1.799e-05	1.354e-05	4.763e-05	4.233e-05	3.5e-06	1.31e-06	7.02e-06	2.63e-06	0	0	0	0	0	0	0	4.233e-05	0	0	0.311	0.13971	T	0.015	0.63918	D	0.001	0.09854	B	0.002	0.10090	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	2.57	0.13552	T	-0.57	0.17210	N	0.319	0.36674	-0.9500	0.40972	T	0.023	0.09878	T	9	0.0726859	0.10883	T	0.004125	0.09869	T	0.033	0.08068	.	.	0.202312658747	0.19855	0.12072852462948136	0.11999	0.229146923257	0.25477	0.671368002892	0.63033	T	0.234269	0.60126	T	-0.354687	0.04439	T	-0.74726	0.03594	T	0.070731392063292	0.08753	T	0.441056	0.12198	T	0.051979087	0.09625	0.06890565	0.14451	0.051979087	0.09625	0.06890565	0.14451	-7.139	0.55582	T	.	.	0.093	0.20857	B	.;.	.;.	0.256523	0.06355	2.816	0.97265682194445291	0.33112	0.04393	0.09975	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00262573375994294	0.09584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.75	0.957	0.18736	1.171000	0.31505	1.886000	0.29485	0.513000	0.23382	0.001000	0.13787	0.135000	0.23037	0.033000	0.13494	0.0:0.5362:0.0:0.4638	6.352	0.20586	799	0.44747	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05	2532.43	148	chrX	111744740	.	C	T	2532.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=0.481;DP=719;ExcessHet=0;FS=2.854;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=10.51;ReadPosRankSum=4.13;SOR=0.885	GT:AD:DP:GQ:PL	0/1:131,110:241:99:2544,0,3271	9	0	1	0
chrX	119605784	119605784	G	T	exonic	NKRF	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.186e-06	0	0	.	0	0	.	.	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	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	34.34	1	chrX	119605784	.	G	T	34.34	.	AC=2;AF=0.111;AN=18;DP=27;ExcessHet=0;FS=0;MLEAC=1;MLEAF=0.056;MQ=60;QD=17.17;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	8	1	0	1
chrX	128051332	128051332	T	C	exonic	ACTRT1	.	nonsynonymous SNV	ACTRT1:NM_138289:exon1:c.A875G:p.N292S	.	432	1088	1	1	0	3	0.00137678	.	.	.	729395	ACTRT1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.167	.	0.0002	0.00980132	0.0043	0.0002	0.0002	0.0189	0	0.0003	0.0047	0.0228	0.0041526	642	154602	rs144040239	0.0018	0.0018	0.0014	0.0027	0.0232	0.0018	0.0017	0.0221	0.0217	7.575e-05	5.681e-05	0.0002	0.0165	0	0	0.0002	0.0025	0.0232	0.0013	0.0014	0.0011	0.0018	0.0228	0.0011	0.0011	0.0181	0.0163	0.0001	0	0.0002	0	0.0210	0	0	0.0002	0	0.0228	0.001	0.78490	D	0.093	0.39799	T	0.068	0.23728	B	0.053	0.25678	B	0.959912	0.08231	N	0.979351	0.999724	0.20581	P	-0.335	0.03518	N	-3.34	0.93975	D	-0.35	0.12847	N	0.009	0.00081	-0.4540	0.70268	T	0.441	0.77940	T	9	0.0028595328	0.00046	T	.	.	.	0.167	0.42761	.	.	0.963932189499	0.96354	0.05842282876162072	0.05783	0.0227418883383	0.02294	0.356238663197	0.18837	T	0.234293	0.60129	T	-0.500566	0.00568	T	-0.471533	0.25351	T	0.0188815835424042	0.00598	T	0.884412	0.60756	D	0.12419294	0.29144	0.19353229	0.42928	0.12419294	0.29144	0.19353229	0.42927	-2.933	0.09477	T	.	.	0.078	0.07036	B	.	.	0.342767	0.07164	3.747	0.89093378480203977	0.18505	0.64423	0.32402	D	AEFI	.	.	.	.	.	.	.	.	.	1.64707869108042E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.58	-0.401	0.11789	1.280000	0.32807	-0.041000	0.12668	-0.123000	0.13640	0.825000	0.30060	0.000000	0.08366	0.209000	0.22154	0.189:0.1148:0.1727:0.5236	1.184	0.01738	900	0.24599	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.002753	0.000000	0.000000	0.007905	0.000000	0.000000	0.000000	0.010526	0.05	2111.43	36	chrX	128051332	.	T	C	2111.43	.	AC=1;AF=0.05;AN=20;BaseQRankSum=2.8;DP=476;ExcessHet=0;FS=7.009;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=1.64;SOR=0.539	GT:AD:DP:GQ:PL	0/1:78,78:156:99:2123,0,1928	9	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4	353.72	80	chrX	135580144	.	G	C	353.72	.	AC=8;AF=0.4;AN=20;BaseQRankSum=-0.669;DP=603;ExcessHet=10.3881;FS=244.206;InbreedingCoeff=-0.6585;MLEAC=8;MLEAF=0.4;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=-0.147;SOR=10.741	GT:AD:DP:GQ:PL	0/1:45,21:76:59:59,0,576	2	0	8	0
chrX	141905826	141905930	TGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.422_526del:p.V162_S196del	.	418	1079	25	0	0	25	0.0114521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0104	0.0044	0.0039	0.0188	0.0036	0.0047	0.0139	.	.	.	.	0.0006	0.0007	0.0009	2.752e-06	0.0014	0.0006	0.0006	0.0012	0.0011	0.0011	0.0009	0.0003	0.0007	0.0052	0.0010	0.0003	0.0008	0.0014	0.0013	0.0016	0.0018	8.611e-05	0.0022	0.0011	0.0011	0.0015	0.0013	0.0018	0	0.0006	0.0011	0.0003	0.0030	0.0047	0.0009	0.0032	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	513.39	35	chrX	141905825	.	TTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG	T	513.39	.	AC=1;AF=0.05;AN=20;BaseQRankSum=1.77;DP=580;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.05;MQ=59.25;MQRankSum=-3.718;QD=3.17;ReadPosRankSum=-0.742;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,50:162:99:0|1:141905825_TTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG_T:525,0,4239:141905825	9	0	1	0
chrX	141905856	141905856	C	0	exonic	MAGEC1	.	.	.	.	444	598	240	231	9	711	0.369863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	11535.3	35	chrX	141905856	.	C	*	11535.3	.	AC=1;AF=0.05;AN=20;BaseQRankSum=-0.096;DP=741;ExcessHet=0;FS=0.656;InbreedingCoeff=0.798;MLEAC=1;MLEAF=0.05;MQ=59.77;MQRankSum=0;QD=20.67;ReadPosRankSum=0.179;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,46:119:99:1|0:141905825_TTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAG_T:2716,1973,2638:141905825	9	0	1	0