Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	Maybe_Pathogenic	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	SIFT_score	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_pred	LRT_score	LRT_pred	MutationTaster_score	MutationTaster_pred	MutationAssessor_score	MutationAssessor_pred	FATHMM_score	FATHMM_pred	RadialSVM_score	RadialSVM_pred	LR_score	LR_pred	VEST3_score	CADD_raw	CADD_phred	GERP++_RS	phyloP46way_placental	phyloP100way_vertebrate	SiPhy_29way_logOdds	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score.1	SIFT_converted_rankscore	SIFT_pred.1	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score.1	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred.1	Polyphen2_HVAR_score.1	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred.1	LRT_score.1	LRT_converted_rankscore	LRT_pred.1	LRT_Omega	MutationTaster_score.1	MutationTaster_converted_rankscore	MutationTaster_pred.1	MutationAssessor_score.1	MutationAssessor_rankscore	MutationAssessor_pred.1	FATHMM_score.1	FATHMM_converted_rankscore	FATHMM_pred.1	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw.1	CADD_raw_rankscore	CADD_phred.1	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS.1	GERP++_RS_rankscore	phyloP100way_vertebrate.1	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds.1	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES959	WT	HH	HZ	NC
chr1	1179271	1179271	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_001130045:exon4:c.G56A:p.R19Q	.	.	.	.	.	.	.	.	.	.	.	3347707	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.0	B	.	.	0.999	N	-0.805	N	3.11	T	-0.904	T	0.008	T	0.056	-0.773	0.749	-0.003	-0.093	0.051	6.583	0.012	0.00330465206705	.	0.000199681	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs555277428	1.215e-05	1.163e-05	1.411e-05	1.015e-05	0.0002	7.4e-06	6.05e-06	7.31e-05	4.941e-05	0	8.414e-05	0	0.0002	0	0	4.635e-06	0	3.788e-05	2.626e-05	2.625e-05	2.57e-05	2.685e-05	0.0004	8.14e-06	5.14e-06	6.842e-05	2.863e-05	4.811e-05	0	0	0	0.0004	0	0	0	0	0	1.0	0.00964	T	0.597	0.08025	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.04	0.01097	N	3.11	0.08194	T	0.54	0.02764	N	0.05	0.02179	-0.9039	0.47572	T	0.008	0.02679	T	9	0.013687283	0.00290	T	0.003305	0.07329	T	0.012	0.01476	0.134	0.03833	0.0551355673512	0.04727	0.03922983506734986	0.03868	0.0292523550471	0.03013	0.238416135311	0.02649	T	0.001822	0.01242	T	-0.651088	0.00071	T	-0.83676	0.01149	T	0.0218930608226052	0.00897	T	0.417558	0.11011	T	0.018435566	0.00366	0.03853029	0.03741	0.018435566	0.00365	0.03853029	0.03741	-4.439	0.30082	T	.	.	0.072	0.06114	B	.;.	.;.	0.240039	0.06203	2.654	0.79367735585075172	0.12709	0.00131	0.00809	N	AEFBCI	0.025994	0.01875	N	-1.58613170726529	0.01335	0.05816688	-1.54716010474366	0.01995	0.0911636	0.996663804982151	0.34909	0.580535	0.33130	0	0.59043	0.45803	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.94	-0.0029	0.13350	-0.348000	0.07789	0.584000	0.19738	-0.717000	0.03845	0.000000	0.06391	0.001000	0.17328	0.003000	0.05239	0.6773:0.0:0.3227:0.0	6.583	0.21800	789	0.46346	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	616.98	34	chr1	1179271	.	G	A	616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=734;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.05;ReadPosRankSum=-9.990e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:18,23:41:99:631,0,368	20	0	1	0
chr1	1185072	1185072	G	A	exonic	TTLL10	.	nonsynonymous SNV	TTLL10:NM_153254:exon9:c.G1145A:p.R382Q	.	.	.	.	.	.	.	.	.	.	.	2205540	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.43	T	0.713	P	0.115	B	0.155	U	1.000	N	0.675	N	3.38	T	-0.969	T	0.015	T	0.254	0.937	8.818	0.433	-0.082	0.746	4.255	0.056	0.00938516418832	.	.	1.686e-05	0	0	0.0001	0	1.531e-05	0	0	3.84e-05	1	26028	rs777355515	3.763e-05	3.762e-05	3.404e-05	4.126e-05	7.557e-05	2.96e-05	2.656e-05	2.999e-05	2.671e-05	5.975e-05	0	0	7.557e-05	0	0	3.957e-05	9.936e-05	0	2.628e-05	2.626e-05	5.137e-05	0	0.0002	8.14e-06	5.14e-06	.	.	2.412e-05	0	6.54e-05	0	0.0002	0	0	1.47e-05	0	0	0.116	0.45039	T	0.046	0.49120	D	0.464	0.42139	P	0.041	0.31843	B	0.155491	0.17829	U	0.404445	0.999681	0.20694	N	0.515	0.13537	N	3.38	0.14038	T	-1.17	0.31170	N	0.256	0.28965	-0.9692	0.37366	T	0.015	0.05801	T	10	0.10098776	0.18425	T	0.009385	0.24600	T	0.056	0.15993	0.486	0.56939	0.139678290688	0.13603	0.2160125843017974	0.21517	0.125008565608	0.14086	0.268202841282	0.05907	T	6.94E-4	0.00312	T	-0.353841	0.04491	T	-0.576916	0.14820	T	0.181164637207985	0.19308	T	0.723528	0.33695	T	0.046859246	0.07914	0.059381858	0.11135	0.046859246	0.07914	0.059381858	0.11135	-7.239	0.55761	T	.	.	0.097	0.17742	B	.;.;.	.;.;.	1.820178	0.23127	15.90	0.85577303792949122	0.15979	0.21154	0.21300	N	AEFDBHCI	0.055477	0.10176	N	-0.679742233569625	0.16601	0.8471912	-0.652593195257734	0.18150	0.9683738	0.989854532312226	0.31956	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.54	0.433	0.15747	0.990000	0.29242	0.954000	0.22943	-0.244000	0.07312	0.901000	0.31451	0.882000	0.27718	0.560000	0.30412	0.6024:0.1704:0.2272:0.0	4.255	0.10164	789	0.46346	.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1607.98	39	chr1	1185072	.	G	A	1607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=960;ExcessHet=0.0000;FS=0.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=-6.350e-01;SOR=0.820	GT:AD:DP:GQ:PL	0/1:61,63:124:99:1622,0,1379	20	0	1	0
chr1	1454379	1454379	A	G	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon4:c.A257G:p.Y86C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	3.055	M	-3.99	D	0.998	D	0.930	D	0.553	1.974	12.56	2.47	1.005	7.895	8.087	0.652	0.083401150303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9e-07	6.841e-07	0	1.388e-06	3.011e-05	0	0	.	.	3.011e-05	0	0	0	0	0	0	0	0	6.595e-06	6.571e-06	0	1.351e-05	2.426e-05	0	0	.	.	2.426e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000176	0.48594	D	0.187218	0.999999	0.58761	D	2.73	0.79844	M	-3.99	0.96308	D	-8.56	0.97398	D	0.97	0.98065	0.998	0.97160	D	0.930	0.97703	D	10	0.889097	0.88246	D	0.083401	0.74107	D	0.652	0.86886	0.571	0.69431	0.92752605749	0.92678	0.19306701125834397	0.19224	0.729035356424	0.62641	0.768867731094	0.77255	T	0.155703	0.49755	T	0.265844	0.80067	D	0.14409	0.79810	D	0.992788255214691	0.83359	D	0.956004	0.83260	D	0.84183687	0.86740	0.6856568	0.81516	0.84183687	0.86741	0.6856568	0.81517	-12.742	0.88272	D	.	.	0.189	0.40698	B	.	.	4.769574	0.77191	26.7	0.9925108458073072	0.56891	0.96032	0.67225	D	AEFBI	0.766226	0.70247	D	0.374383398248016	0.60038	4.188489	0.154707896233349	0.47393	2.970117	0.014735285952627	0.12632	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	2.47	2.47	0.29113	8.042000	0.89201	9.210000	0.79232	0.542000	0.25261	1.000000	0.71638	1.000000	0.68203	0.000000	0.00833	1.0:0.0:0.0:0.0	8.087	0.29939	867	0.32089	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	884.98	37	chr1	1454379	.	A	G	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=902;ExcessHet=0.0000;FS=5.588;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.36;MQRankSum=-1.153e+00;QD=9.83;ReadPosRankSum=-1.002e+00;SOR=1.325	GT:AD:DP:GQ:PL	0/1:55,35:90:99:899,0,1375	20	0	1	0
chr1	1624901	1624989	GGTGAGTGGAGGCAGAGGGGCGGGGTCAGGGCTGGGCTGTGGCTGGCTCATGGCTCAGCCTTAGCCTGCTGGGGGGGCCTCTTTCCCCA	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170686:exon5:c.700delG:p.G234Efs*26	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.583e-06	0	0	0	0	1.55e-05	0	0	.	.	.	.	2.055e-06	2.736e-06	2.725e-06	1.377e-06	1.16e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1197.94	44	chr1	1624900	.	TGGTGAGTGGAGGCAGAGGGGCGGGGTCAGGGCTGGGCTGTGGCTGGCTCATGGCTCAGCCTTAGCCTGCTGGGGGGGCCTCTTTCCCCA	T	1197.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.60;DP=980;ExcessHet=0.0000;FS=4.033;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.22;ReadPosRankSum=0.746;SOR=0.971	GT:AD:DP:GQ:PL	0/1:117,49:166:99:1212,0,4746	20	0	1	0
chr1	1625185	1625284	GGTATGAGGCTGTCACACTGACTCCATCAGCCCTCCTGCCTTGGCTGAAGTCCCAGAGGGGAGGGGCCGCTGCCTGAGGCCTGGTCTGCCACCCTCCGCA	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170686:exon6:c.895delG:p.G299Afs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.062e-06	2.736e-06	2.732e-06	1.384e-06	1.163e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1523.94	44	chr1	1625184	.	CGGTATGAGGCTGTCACACTGACTCCATCAGCCCTCCTGCCTTGGCTGAAGTCCCAGAGGGGAGGGGCCGCTGCCTGAGGCCTGGTCTGCCACCCTCCGCA	C	1523.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.06;DP=1017;ExcessHet=0.0000;FS=0.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.54;ReadPosRankSum=-1.009e+00;SOR=0.614	GT:AD:DP:GQ:PL	0/1:138,64:202:99:1538,0,5603	20	0	1	0
chr1	1625427	1625543	AGGTGAGCCGCCCCGCCGTGGAGCCCTGTGTGCCCTGCCCTCCCAGCCCTCCGCCCCCTCAGCCCCTTCCTCCCCAAGCGTCCAGCCCGACCCAGCCACAGCTCCATGACCCGCCAC	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon6:c.1013_1014del:p.E338Vfs*53	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	.	.	.	.	2.123e-06	2.736e-06	2.801e-06	1.43e-06	1.234e-05	5.7e-07	1.6e-07	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	1.234e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1168.94	44	chr1	1625426	.	GAGGTGAGCCGCCCCGCCGTGGAGCCCTGTGTGCCCTGCCCTCCCAGCCCTCCGCCCCCTCAGCCCCTTCCTCCCCAAGCGTCCAGCCCGACCCAGCCACAGCTCCATGACCCGCCAC	G	1168.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=1052;ExcessHet=0.0000;FS=4.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.860;SOR=1.000	GT:AD:DP:GQ:PL	0/1:207,55:262:99:1183,0,8533	20	0	1	0
chr1	1626755	1626836	GTGAGTCCCCCTGCCACCCCCGCCGCTAGCGCCGCTGCCCCCCACACCTGCAGCCTGCTGTGACCCCCTCCCCTCCCCGCAG	-	splicing	MIB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.792e-06	2.736e-06	2.769e-06	2.815e-06	2.408e-05	6.5e-07	4.4e-07	4e-06	1.5e-06	0	0	0	0	0	0	1.818e-06	0	2.408e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2703.94	35	chr1	1626754	.	TGTGAGTCCCCCTGCCACCCCCGCCGCTAGCGCCGCTGCCCCCCACACCTGCAGCCTGCTGTGACCCCCTCCCCTCCCCGCAG	T	2703.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=1046;ExcessHet=0.0000;FS=4.589;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=1.71;SOR=0.562	GT:AD:DP:GQ:PL	0/1:193,78:271:99:2718,0,7772	20	0	1	0
chr1	1627000	1627073	GTGCGGCACAGCTCAGGCGGCCAGTGGGAGGTGGGGCTGCCCCTGGCCACCACTAACCTCAGCCCTGCCCCCAG	-	splicing	MIB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.371e-06	2.736e-06	2.728e-06	0	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1703.94	35	chr1	1626999	.	AGTGCGGCACAGCTCAGGCGGCCAGTGGGAGGTGGGGCTGCCCCTGGCCACCACTAACCTCAGCCCTGCCCCCAG	A	1703.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.45;DP=1013;ExcessHet=0.0000;FS=4.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.04;ReadPosRankSum=-6.790e-01;SOR=1.037	GT:AD:DP:GQ:PL	0/1:188,54:242:99:1718,0,7679	20	0	1	0
chr1	1627204	1627291	GCAGGCAAGCTCCTGACCCCGTCCTCCCATACTGGCCAGTCTGAGAGTGAGGGGCAGAGGGCCAGGGACTCACCTGCTGGCACTCTTG	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon10:c.1521_1524del:p.Q508Wfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.473e-05	0	0	0	0	2.643e-05	0	0	.	.	.	.	2.066e-06	2.736e-06	2.738e-06	1.385e-06	1.171e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.805e-06	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1602.94	35	chr1	1627203	.	AGCAGGCAAGCTCCTGACCCCGTCCTCCCATACTGGCCAGTCTGAGAGTGAGGGGCAGAGGGCCAGGGACTCACCTGCTGGCACTCTTG	A	1602.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.00;DP=1051;ExcessHet=0.0000;FS=2.635;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.79;ReadPosRankSum=0.307;SOR=0.795	GT:AD:DP:GQ:PL	0/1:223,54:277:99:1617,0,9173	20	0	1	0
chr1	1628180	1628272	GTGAGTGTGGGGTGGGCACACAGCTGCAGCCGGCCTCTTGCTGTGCTGCCTGGGGGCAGTCCCAGGTCCCAGACCAACCTCCCTGCTCCACAG	-	splicing	MIB2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.736e-06	2.724e-06	1.376e-06	1.159e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2222.94	36	chr1	1628179	.	TGTGAGTGTGGGGTGGGCACACAGCTGCAGCCGGCCTCTTGCTGTGCTGCCTGGGGGCAGTCCCAGGTCCCAGACCAACCTCCCTGCTCCACAG	T	2222.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.96;DP=1014;ExcessHet=0.0000;FS=7.624;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.48;ReadPosRankSum=0.073;SOR=0.680	GT:AD:DP:GQ:PL	0/1:200,97:297:99:2237,0,8084	20	0	1	0
chr1	1628398	1628486	AGGTGCGGACGCGGCCCAGTCCTGCCCAAGGACCGGGGAGCGGGAGGCCCACTGGGGTCCCTGGGCTGAGCCCGTCCCCACCCCTCCCC	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon14:c.2117_2118del:p.E706Gfs*4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.012e-06	0	0	0	0	1.616e-05	0	0	.	.	.	.	2.056e-06	2.736e-06	2.727e-06	1.377e-06	1.16e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2338.94	36	chr1	1628397	.	GAGGTGCGGACGCGGCCCAGTCCTGCCCAAGGACCGGGGAGCGGGAGGCCCACTGGGGTCCCTGGGCTGAGCCCGTCCCCACCCCTCCCC	G	2338.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.36;DP=948;ExcessHet=0.0000;FS=2.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.00;ReadPosRankSum=2.17;SOR=0.825	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,89:234:99:0|1:1628397_GAGGTGCGGACGCGGCCCAGTCCTGCCCAAGGACCGGGGAGCGGGAGGCCCACTGGGGTCCCTGGGCTGAGCCCGTCCCCACCCCTCCCC_G:2353,0,5822:1628397	20	0	1	0
chr1	1629311	1629383	GGTGAGTCCGTGGACGGCGGGGATGGGGTCCGGCGGCCTCCGGGCCCCTCTCAAGCCGCCTCCTCCCCCTGCA	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon16:c.2531delG:p.E845Sfs*22	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.243e-06	2.736e-06	1.478e-06	3.024e-06	2.852e-05	6e-07	1.7e-07	4.73e-06	1.77e-06	0	0	0	0	0	0	9.376e-07	0	2.852e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	824.94	34	chr1	1629310	.	CGGTGAGTCCGTGGACGGCGGGGATGGGGTCCGGCGGCCTCCGGGCCCCTCTCAAGCCGCCTCCTCCCCCTGCA	C	824.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.07;DP=833;ExcessHet=0.0000;FS=0.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.05;ReadPosRankSum=1.31;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,27:117:99:0|1:1629310_CGGTGAGTCCGTGGACGGCGGGGATGGGGTCCGGCGGCCTCCGGGCCCCTCTCAAGCCGCCTCCTCCCCCTGCA_C:839,0,3684:1629310	20	0	1	0
chr1	1629566	1629637	GGTGAGTGGGGGGCCCCGGGGTGGGGAGGCCCGGCTAGTAGGGCCGCAGCCAACCGCGCTCTCCTCTTCGCA	-	exonic	MIB2	.	frameshift deletion	MIB2:NM_001170688:exon17:c.2713delG:p.E905Sfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.11e-07	4.104e-06	1.406e-06	0	9.205e-07	0	0	.	.	0	0	0	0	0	0	9.205e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	473.94	50	chr1	1629565	.	GGGTGAGTGGGGGGCCCCGGGGTGGGGAGGCCCGGCTAGTAGGGCCGCAGCCAACCGCGCTCTCCTCTTCGCA	G	473.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=1051;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.15;ReadPosRankSum=-7.470e-01;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,17:92:99:0|1:1629565_GGGTGAGTGGGGGGCCCCGGGGTGGGGAGGCCCGGCTAGTAGGGCCGCAGCCAACCGCGCTCTCCTCTTCGCA_G:488,0,3091:1629565	20	0	1	0
chr1	1752908	1752908	-	CCTCCT	exonic	NADK	.	nonframeshift insertion	NADK:NM_001198995:exon10:c.1240_1241insAGGAGG:p.E413_G414insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0013	0.0013	0.0016	0	0.0018	0.0093	0.0161	0.0003074	8	26028	rs150880809	0.0039	0.0041	0.0034	0.0044	0.0211	0.0038	0.0038	0.0203	0.0200	0.0040	0.0042	0.0015	0.0026	0.0003	0.0130	0.0028	0.0048	0.0211	0.0044	0.0045	0.0041	0.0047	0.0232	0.0041	0.0040	0.0197	0.0184	0.0042	0.0111	0.0037	0.0012	0.0042	0.0006	0.0171	0.0038	0.0107	0.0232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22075.32	36	chr1	1752908	.	C	CCCT,CCCTCCT	22075.32	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-6.990e-01;DP=1313;ExcessHet=0.1361;FS=0.555;InbreedingCoeff=0.2741;MLEAC=14,1;MLEAF=0.333,0.024;MQ=59.91;MQRankSum=0.00;QD=26.12;ReadPosRankSum=0.088;SOR=0.757	GT:AD:DP:GQ:PL	1/1:2,65,0:67:99:2759,111,0,2765,195,2849	10	3	7	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.989	D	0.969	D	0.000	D	1.000	D	1.355	L	-0.82	T	-0.170	T	0.498	T	0.639	3.746	19.02	5.6	2.633	9.476	19.620	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11777.12	34	chr1	10326244	.	G	C	11777.12	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-6.149e+00;DP=3631;ExcessHet=11.8493;FS=235.795;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.590;SOR=13.423	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,50:207:99:0|1:10326244_G_C:168,0,4640:10326244	8	0	13	0
chr1	11129799	11129799	C	T	exonic	MTOR	.	nonsynonymous SNV	MTOR:NM_004958:exon40:c.G5653A:p.V1885I,	Smith-Kingsmore syndrome, Autosomal dominant	.	427	1090	5	0	0	5	0.00228833	.	.	390746	not_specified|not_provided|MTOR-related_disorder|Isolated_focal_cortical_dysplasia_type_II|Macrocephaly-intellectual_disability-neurodevelopmental_disorder-small_thorax_syndrome	MedGen:CN169374|MedGen:C3661900|.|Human_Phenotype_Ontology:HP:0032051,MONDO:MONDO:0011818,MedGen:C1846385,OMIM:607341,Orphanet:268994|MONDO:MONDO:0014716,MedGen:C4225259,OMIM:616638,Orphanet:457485	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.51	T	0.984	D	0.718	P	0.000	D	1.000	D	1.55	L	-0.73	T	-0.537	T	0.381	T	0.682	2.887	15.62	5.79	2.733	7.454	20.04	0.321	0.0213030344094	0.0005	0.000399361	0.0003	0.0002	0.0002	0.0001	0	0.0005	0.0011	0.0001	0.0003169	49	154602	rs139043855	0.0003	0.0003	0.0003	0.0003	0.0010	0.0003	0.0003	0.0005	0.0003	0	0.0002	0.0008	5.038e-05	1.872e-05	0.0010	0.0003	0.0004	0.0002	0.0003	0.0003	0.0002	0.0004	0.0005	0.0002	0.0002	0.0004	0.0003	7.216e-05	0	0.0004	0.0009	0	0	0	0.0005	0.0005	0	0.66	0.06691	T	0.779	0.08565	T	0.984	0.60733	D	0.718	0.54779	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1	0.25136	L	-0.73	0.73100	T	-0.86	0.23372	N	0.515	0.57860	-0.5366	0.67292	T	0.381	0.73759	T	10	0.19376647	0.35160	T	0.021303	0.44047	T	0.321	0.64318	.	.	0.758391514038	0.75620	0.5442220278547816	0.54348	1.03671017739	0.75637	0.68885833025	0.65541	T	0.242336	0.67651	T	-0.118484	0.33372	T	-0.0630316	0.66120	T	0.0516656994879905	0.05789	T	0.959904	0.84889	D	0.13588083	0.31520	0.14220059	0.33838	0.121197015	0.28505	0.13616982	0.32581	-6.862	0.53019	T	0.25892458520192885	0.34980	0.157	0.38747	B	.;.	.;.	4.206671	0.63523	24.6	0.99301623067403444	0.58650	0.99259	0.93576	D	AEFDBI	0.843850	0.76085	D	0.565402418611722	0.71026	5.588573	0.607968637223394	0.75518	6.324664	0.999999999973652	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.79	5.79	0.91751	7.537000	0.80946	7.637000	0.63009	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.540000	0.29938	0.0:1.0:0.0:0.0	20.04	0.97580	369	0.84396	PIK-related kinase, FAT|PIK-related kinase;PIK-related kinase, FAT|PIK-related kinase	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1848.98	33	chr1	11129799	.	C	T	1848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=864;ExcessHet=0.0000;FS=0.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.817;SOR=0.601	GT:AD:DP:GQ:PL	0/1:91,72:163:99:1863,0,2337	20	0	1	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	0.4286	41030.51	718	chr1	16563946	.	C	T	41030.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.258;DP=13151;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.21;MQRankSum=-8.750e+00;QD=3.71;ReadPosRankSum=0.088;SOR=0.664	GT:AD:DP:GQ:PL	0/1:609,107:716:99:1279,0,18067	3	0	18	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	47598.51	991	chr1	16563989	.	G	C	47598.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.780e-01;DP=17388;ExcessHet=30.0624;FS=0.000;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=59.70;MQRankSum=-4.782e+00;QD=3.12;ReadPosRankSum=0.231;SOR=0.674	GT:AD:DP:GQ:PL	0/1:865,118:983:99:673,0,25031	3	0	18	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	.	.	.	.	.	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	0.4048	106526.9	1008	chr1	16564107	.	T	G	106526.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.422e+00;DP=17757;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=55.80;MQRankSum=6.43;QD=7.02;ReadPosRankSum=0.689;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:768,201:969:99:.:.:4507,0,25802	4	0	17	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4762	99791.4	773	chr1	16564144	.	C	T	99791.4	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.121e+00;DP=14037;ExcessHet=43.6797;FS=0.578;InbreedingCoeff=-0.9210;MLEAC=20;MLEAF=0.476;MQ=53.77;MQRankSum=-1.899e+01;QD=7.70;ReadPosRankSum=0.116;SOR=0.802	GT:AD:DP:GQ:PL	0/1:508,210:718:99:4561,0,17260	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	110456.43	755	chr1	16564149	.	C	T	110456.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-9.900e-01;DP=13366;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.66;MQRankSum=7.55;QD=8.81;ReadPosRankSum=-3.670e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:475,223:698:99:5396,0,15804	1	0	20	0
chr1	16564186	16564186	C	G	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	373	1100	49	0	0	49	0.0217875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0087	0.0025	0.0043	0	0.0106	0.0127	0.01	0.0034	0.0072444	1120	154602	rs200760413	0	2.379e-05	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.69154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.37509	.	.	.	.	.	.	.	0.007929355	0.00180	T	.	.	.	.	.	.	.	0.0884992946249	0.08302	0.07312084663879208	0.07249	.	.	0.449560642242	0.31884	T	.	.	.	-0.456395	0.01035	T	-0.535872	0.18705	T	.	.	.	0.973753	0.92190	D	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.619	0.69641	P	.;.	.;.	1.785020	0.22693	15.72	0.44714069370902609	0.03458	0.00541	0.02492	N	AEFBCI	0.039570	0.05765	N	.	.	.	.	.	.	2.85478778828593E-4	0.06355	0.071217	0.01513	1	0.046471	0.00084	3	0.066767	0.01867	0	0.123	0.03924	1	.	.	0.566	-1.13	0.09274	-0.422000	0.07110	-7.525000	0.01138	0.312000	0.19173	0.005000	0.17040	0.000000	0.08366	0.015000	0.10482	.	.	.	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	0.02381	127.98	270	chr1	16564186	.	C	G	127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=5423;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.85;MQRankSum=2.30;QD=0.28;ReadPosRankSum=-2.610e-01;SOR=0.835	GT:AD:DP:GQ:PL	0/1:420,44:464:99:142,0,14804	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6554.32	70	chr1	16579293	.	A	G	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=1.87;DP=1441;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-7.480e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,15:75:99:0|1:16579293_A_G:450,0,2434:16579293	0	0	19	2
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	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	6554.32	70	chr1	16579294	.	T	C	6554.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-5.460e+00;DP=1432;ExcessHet=36.0830;FS=139.268;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=35.97;MQRankSum=0.877;QD=5.04;ReadPosRankSum=-9.680e-01;SOR=8.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,15:75:99:0|1:16579293_A_G:450,0,2434:16579293	0	0	19	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4286	3659.58	71	chr1	16579305	.	G	A	3659.58	.	AC=18;AF=0.429;AN=42;BaseQRankSum=3.29;DP=1401;ExcessHet=30.0624;FS=127.752;InbreedingCoeff=-0.7505;MLEAC=18;MLEAF=0.429;MQ=35.79;MQRankSum=0.355;QD=3.02;ReadPosRankSum=-7.570e-01;SOR=8.098	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:63,9:72:99:.:.:167,0,1948	3	0	18	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	.;.	.	.	.	.	.	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	0.3095	1830.34	67	chr1	16579308	.	G	C	1830.34	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.233;DP=1379;ExcessHet=11.8493;FS=101.562;InbreedingCoeff=-0.4491;MLEAC=13;MLEAF=0.310;MQ=35.77;MQRankSum=0.401;QD=2.26;ReadPosRankSum=-6.640e-01;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,8:74:93:.:.:93,0,2722	8	0	13	0
chr1	16591991	16591991	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	383	1060	79	0	0	79	0.0359254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0129792	0.0297	0.0079	0.0171	0.0005	0.0368	0.0429	0.0268	0.0118	0.0239389	3701	154602	rs199564458	0.0002	0.0002	0.0002	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	2.238e-05	3.831e-05	0	0	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.197	0.27855	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.29197	.	.	.	.	.	.	.	0.003590405	0.00065	T	.	.	.	.	.	.	.	.	.	0.05074882340970097	0.05016	.	.	0.617227673531	0.55337	T	.	.	.	-0.342333	0.05228	T	-0.729514	0.04349	T	.	.	.	0.806819	0.45619	T	.	.	.	.	.	.	.	.	-7.512	0.57695	D	.	.	0.081	0.08465	B	.;.	.;.	-0.110497	0.03581	0.696	0.68576904222900414	0.08701	0.00301	0.01603	N	AEFDBHCIJ	0.037390	0.05136	N	.	.	.	.	.	.	0.99999989870109	0.74766	0.205481	0.04072	1	0.188433	0.04229	0	0.216804	0.04610	0	0.364879	0.05822	1	.	.	0.566	-1.13	0.09274	-3.599000	0.00468	-6.832000	0.01295	-4.637000	0.00024	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	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	0.07143	1619.68	818	chr1	16591991	.	C	T	1619.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.34;DP=7507;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.14;MQRankSum=-1.550e+00;QD=0.81;ReadPosRankSum=-6.030e-01;SOR=0.640	GT:AD:DP:GQ:PL	0/1:734,103:837:99:583,0,19238	18	0	3	0
chr1	16757526	16757526	C	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon14:c.G1900C:p.A634P,	.	.	384	766	370	1	1	373	0.195378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	1.0	D	0.999	D	0.001	D	.	.	.	.	.	.	-0.707	T	0.205	T	0.394	0.985	9.021	.	0.502	4.380	6.740	0.404	.	.	.	0.1053	0.0655	0.1365	0.0133	0.1064	0.1147	0.0930	0.1251	0.0830326	12837	154602	rs2446543	6.846e-06	7.593e-05	8.174e-06	5.505e-06	3.482e-05	3.46e-06	2.52e-06	9.25e-06	4.56e-06	2.99e-05	0	0	0	0	0	5.4e-06	0	3.482e-05	2.629e-05	0.0002	3.858e-05	1.344e-05	6.547e-05	8.14e-06	5.14e-06	1.172e-05	6.25e-06	0	0	6.547e-05	0	0	0	0	4.416e-05	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	0.2143	10056.01	467	chr1	16757526	.	C	G	10056.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.907e+00;DP=7504;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=40.50;MQRankSum=-1.159e+00;QD=2.85;ReadPosRankSum=0.494;SOR=0.679	GT:AD:DP:GQ:PL	0/1:412,154:566:99:3344,0,11685	12	0	9	0
chr1	16759377	16759377	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon8:c.T949C:p.W317R,	.	.	399	1097	25	1	0	27	0.0121567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.002	N	.	.	.	.	.	.	-1.006	T	0.026	T	0.088	-1.910	0.008	.	-0.000	1.935	2.124	0.133	.	.	.	0.0065	0.0094	0.0043	0.0021	0.0065	0.0062	0.0037	0.0104	0.000461	12	26028	rs1806514	0.0001	0.0022	9.6e-05	0.0001	0.0004	9.186e-05	8.712e-05	0.0002	0.0002	0.0004	6.771e-05	7.747e-05	0.0002	7.612e-05	0.0002	9.597e-05	0.0002	8.16e-05	0.0007	0.0055	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0010	0.0012	0.0009	0	0	0.0006	0	0.0005	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	349.12	123	chr1	16759377	.	A	G	349.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.33;DP=2661;ExcessHet=0.1072;FS=7.810;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=54.31;MQRankSum=-8.349e+00;QD=0.83;ReadPosRankSum=-1.964e+00;SOR=1.492	GT:AD:DP:GQ:PL	0/1:194,27:221:99:350,0,5394	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	13930.12	129	chr1	16759590	.	G	GC	13930.12	.	AC=26;AF=0.619;AN=42;BaseQRankSum=5.56;DP=1816;ExcessHet=4.5793;FS=24.066;InbreedingCoeff=-0.2117;MLEAC=26;MLEAF=0.619;MQ=45.00;MQRankSum=-3.164e+00;QD=9.41;ReadPosRankSum=-3.895e+00;SOR=1.240	GT:AD:DP:GQ:PL	0/1:57,36:93:99:989,0,1731	2	7	12	0
chr1	16760442	16760442	G	T	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon4:c.C387A:p.N129K,	.	.	382	1064	76	0	0	76	0.0344828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	.	.	.	.	.	.	-0.439	T	0.277	T	0.114	1.871	12.22	.	0.502	0.328	6.740	0.281	.	.	.	0.0106	0.0089	0.0060	0	0.0183	0.0138	0.0126	0.0040	3.84e-05	1	26028	rs772310681	0.0016	0.0086	0.0017	0.0015	0.0027	0.0015	0.0015	0.0017	0.0017	0.0004	0.0002	0.0007	0	0.0028	0.0027	0.0018	0.0011	0.0005	0.0009	0.0060	0.0009	0.0009	0.0012	0.0008	0.0007	0.0010	0.0009	0.0003	0	0.0008	0.0009	0	0.0017	0	0.0012	0.0020	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	607.1	39	chr1	16760442	.	G	T	607.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.598e+00;DP=3831;ExcessHet=0.1072;FS=0.651;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=44.34;MQRankSum=0.731;QD=1.68;ReadPosRankSum=-3.790e-01;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:305,37:342:99:0|1:16760442_G_T:599,0,12647:16760442	19	0	2	0
chr1	16760445	16760446	AC	-	exonic	MST1L	.	frameshift deletion	MST1L:NM_001271733:exon4:c.383_384del:p.R128Qfs*3,	.	.	382	1066	74	0	0	74	0.0335449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0107	0.0089	0.0060	0	0.0183	0.0139	0.0127	0.0041	0.001191	31	26028	rs748266310	0.0014	0.0085	0.0015	0.0013	0.0023	0.0013	0.0013	0.0015	0.0015	0.0003	0.0002	0.0007	0	0.0027	0.0023	0.0016	0.0010	0.0005	0.0008	0.0060	0.0008	0.0009	0.0011	0.0007	0.0007	0.0009	0.0008	0.0003	0	0.0009	0.0009	0	0.0015	0	0.0011	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	589.07	39	chr1	16760444	.	TAC	T	589.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.72;DP=3844;ExcessHet=0.1072;FS=0.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=44.49;MQRankSum=0.731;QD=1.60;ReadPosRankSum=0.00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:311,37:348:99:0|1:16760442_G_T:581,0,12842:16760442	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.001	D	.	.	.	.	.	.	-0.445	T	0.276	T	0.209	2.959	15.86	.	0.502	5.217	6.740	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	0.1905	3282.72	39	chr1	16760446	.	C	T	3282.72	.	AC=8;AF=0.190;AN=42;BaseQRankSum=2.49;DP=5013;ExcessHet=3.5521;FS=14.600;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.190;MQ=45.78;MQRankSum=-1.759e+00;QD=1.55;ReadPosRankSum=-3.770e-01;SOR=2.106	GT:AD:DP:GQ:PL	0/1:242,66:345:99:1306,0,6801	13	0	8	0
chr1	25246525	25246525	A	G	exonic	RSRP1	.	nonsynonymous SNV	RSRP1:NM_001321772:exon2:c.T439C:p.Y147H	.	.	424	1073	22	3	0	28	0.0128795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.997	D	0.041	N	0.684	N	1.79	L	1.39	T	-0.605	T	0.190	T	0.428	5.168	32	4.43	1.984	4.869	11.837	0.160	0.0096235493379	0.0058	0.00259585	0.0062	0.0013	0.0041	0	0.0030	0.0087	0.0033	0.0050	0.0062095	960	154602	rs34619962	0.0078	0.0078	0.0079	0.0077	0.0088	0.0076	0.0076	0.0087	0.0086	0.0009	0.0040	0.0093	0	0.0034	0.0066	0.0088	0.0076	0.0048	0.0049	0.0049	0.0053	0.0044	0.0078	0.0046	0.0045	0.0072	0.0070	0.0011	0.0011	0.0036	0.0118	0	0.0040	0.0034	0.0078	0.0052	0.0029	0.0	0.91255	D	0.516	0.10607	T	0.999	0.77913	D	0.997	0.86255	D	0.040851	0.24013	N	0.207223	0.684043	0.30252	N	1.935	0.51832	L	1.39	0.50976	T	-4.09	0.77143	D	0.557	0.58202	-0.6046	0.64627	T	0.190	0.54123	T	10	0.009093285	0.00206	T	0.009624	0.25153	T	0.160	0.41473	.	.	0.238096912614	0.23440	0.1587885378612421	0.15799	2.17131033113	0.95510	.	.	.	0.074899	0.35049	T	-0.367962	0.03699	T	-0.295355	0.45214	T	0.034722897999833	0.02761	T	0.842016	0.51794	T	0.65391976	0.75573	0.6518422	0.79626	0.65391976	0.75575	0.6518422	0.79627	-4.314	0.30042	T	.	.	0.262	0.54918	B	.;.	.;.	3.520469	0.49340	22.8	0.99682362062154006	0.79373	0.95739	0.65948	D	AEFDGBHCI	0.591339	0.58747	D	0.42953364775547	0.63054	4.531812	0.331682890683542	0.57411	3.906667	0.999999999999005	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.43	4.43	0.52967	4.757000	0.61910	0.734000	0.21109	-0.042000	0.17409	0.997000	0.40164	0.003000	0.18671	0.018000	0.11154	1.0:0.0:0.0:0.0	11.837	0.51605	815	0.41851	.;.	.	.	.	.	.	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	0.02381	2390.98	40	chr1	25246525	.	A	G	2390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=897;ExcessHet=0.0000;FS=1.151;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.99;ReadPosRankSum=-6.550e-01;SOR=0.573	GT:AD:DP:GQ:PL	0/1:92,92:184:99:2405,0,2317	20	0	1	0
chr1	25301582	25301582	G	C	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001127691:exon5:c.G697C:p.E233Q	.	.	520	1000	2	0	0	2	0.000999001	.	.	204995	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.47	T	0.999	D	0.998	D	0.660	N	1.000	N	1.065	L	1.95	T	-1.060	T	0.004	T	0.158	0.749	7.971	2.9	1.462	2.309	9.111	0.049	.	0.0044	0.071885	0.0017	0.0165	0.0010	0.0001	0.0003	8.834e-05	0	0.0003	0.0046442	718	154602	rs1053359	0.0005	0.0006	0.0006	0.0004	0.0135	0.0005	0.0005	0.0124	0.0120	0.0135	0.0016	0	0.0003	0	0.0010	4.333e-05	0.0015	7.45e-05	0.0043	0.0052	0.0045	0.0041	0.0137	0.0040	0.0039	0.0127	0.0123	0.0137	0	0.0023	0	0.0008	0	0	7.145e-05	0.0016	0.0005	0.205	0.20154	T	0.195	0.28032	T	0.062	0.77913	B	0.281	0.88582	B	0.660235	0.10434	N	0.859558	1	0.08975	N	1.5	0.37844	L	1.95	0.22474	T	-1.68	0.40082	N	0.263	0.34120	-1.0605	0.11632	T	0.004	0.01226	T	10	0.004635632	0.00097	T	.	.	.	0.049	0.13647	.	.	0.107399877778	0.10242	0.28830555766175875	0.28743	0.198620745402	0.22241	0.420844733715	0.27952	T	0.003234	0.02636	T	-0.571155	0.00218	T	-0.580877	0.14466	T	0.00831160482685251	0.00100	T	0.724828	0.33863	T	0.13702348	0.31743	0.08801503	0.20495	0.12909038	0.30160	0.092419095	0.21779	-5.006	0.39685	T	0.4028133306081099	0.49435	0.09	0.26762	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	1.629407	0.20803	14.92	0.88729452986511348	0.18208	0.15426	0.18906	N	AEFGBI	0.222883	0.34731	N	-0.584269614534565	0.19422	1.016364	-0.651315912296865	0.18184	0.9702479	0.00733175581229321	0.11441	0.554377	0.28877	0	0.588066	0.40923	0	0.536957	0.11973	0	0.564101	0.26826	0	.	.	2.9	2.9	0.32809	0.858000	0.27500	2.404000	0.32608	0.325000	0.19437	0.017000	0.19353	0.922000	0.28345	0.084000	0.17470	0.0:0.0:1.0:0.0	9.111	0.35889	846	0.36215	Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;.;.;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain	.	.	.	.	chr1:25628073	Benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.025	1344.33	42	chr1	25301582	.	G	C	1344.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.23;DP=825;ExcessHet=0.0000;FS=4.941;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=49.04;MQRankSum=-7.042e+00;QD=8.56;ReadPosRankSum=-1.089e+00;SOR=1.092	GT:AD:DP:GQ:PL	0/1:98,59:157:99:1358,0,2249	19	0	1	1
chr1	25306681	25306681	T	C	exonic	RHD	.	nonsynonymous SNV	RHD:NM_001282867:exon7:c.T527C:p.I176T	.	.	511	1009	2	0	0	2	0.000990099	.	.	198600	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0.26	T	0.003	B	0.01	B	0.232	N	1.000	N	-0.975	N	1.97	T	-0.982	T	0.003	T	0.096	-0.862	0.522	-2.18	-0.362	-1.322	6.445	0.005	0.001248172493	0.0020	0.00119808	0.0006	0.0060	0.0004	0	0	1.767e-05	0	0	0.0001153	3	26028	rs138235491	0.0003	0.0003	0.0004	0.0003	0.0091	0.0003	0.0003	0.0082	0.0079	0.0091	0.0009	0	0	0	0.0010	2.166e-05	0.0010	0.0002	0.0022	0.0023	0.0022	0.0022	0.0071	0.0020	0.0019	0.0064	0.0061	0.0071	0	0.0010	0	0	0	0	1.798e-05	0.0006	0.0002	1.0	0.10945	T	0.501	0.14326	T	0.0	0.02946	B	0.001	0.04355	B	0.232003	0.15900	N	0.673356	1	0.08975	N	-1.2	0.00838	N	1.97	0.22067	T	1.17	0.02297	N	0.158	0.17416	-0.9824	0.34445	T	0.003	0.00864	T	10	0.005736381	0.00128	T	0.001248	0.01683	T	0.005	0.00259	.	.	0.0482279557977	0.04254	0.19556217122171632	0.19473	0.108913365642	0.12281	0.288580775261	0.08716	T	0.002617	0.02004	T	-0.508	0.00515	T	-0.761978	0.03042	T	0.00142547449042624	0.00014	T	0.442056	0.14032	T	0.018914966	0.00415	0.048120636	0.07080	0.02382468	0.01155	0.049260736	0.07489	-2.555	0.19732	T	0.06363026936898165	0.01969	0.069	0.13409	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.595988	0.01583	0.106	0.40456982515304901	0.02856	0.00080	0.00545	N	AEFGBI	0.054965	0.10039	N	-1.78885232172401	0.00573	0.02467995	-1.79808799506327	0.00765	0.0341294	6.91524004528068E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.48	-2.18	0.06643	-1.308000	0.02839	-1.121000	0.06268	-0.702000	0.04048	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.0:0.4095:0.0:0.5905	6.445	0.21071	878	0.29785	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain;.;Ammonium transporter AmtB-like domain	.	.	.	.	rs138235491	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	2230.8	33	chr1	25306681	.	T	C	2230.8	.	AC=2;AF=0.050;AN=40;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.050;MQ=60.00;QD=32.33;SOR=0.910	GT:AD:DP:GQ:PL	1/1:0,69:69:99:2258,207,0	19	1	0	1
chr1	25388999	25388999	T	C	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_138617:exon4:c.A601G:p.I201V	Rh-null disease, amorph type (3)	.	419	1100	3	0	0	3	0.00136178	.	.	707283	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.074	B	0.047	B	0.068	N	0.998	D	0.385	N	2.05	T	-1.034	T	0.022	T	0.243	-0.551	1.503	2.48	0.791	0.015	7.030	0.046	0.00633095839507	0.0008	.	0.0005	0.0041	0.0008	0	0	0.0001	0	0.0001	0.0001921	5	26028	rs1132765	0.0003	0.0003	0.0003	0.0002	0.0067	0.0003	0.0003	0.0059	0.0057	0.0067	0.0011	0	2.519e-05	1.872e-05	0.0005	8.813e-05	0.0007	0.0001	0.0018	0.0018	0.0017	0.0019	0.0056	0.0016	0.0016	0.0050	0.0048	0.0056	0	0.0020	0	0	0	0	0.0002	0.0005	0.0002	0.717	0.03961	T	1.0	0.04703	T	0.074	0.24142	B	0.047	0.24832	B	0.068270	0.21684	N	0.523749	0.998036	0.44438	D	.	.	.	2.05	0.20664	T	-0.21	0.10308	N	0.144	0.19593	-1.0345	0.19014	T	0.022	0.09467	T	10	0.005934	0.00133	T	0.006331	0.16639	T	0.046	0.12618	.	.	0.110392049598	0.10638	0.06811926200585638	0.06749	0.25259744787	0.27827	0.255571097136	0.04377	T	.	.	.	-0.582558	0.00186	T	-0.605575	0.12347	T	0.00542456866298858	0.00059	T	0.568443	0.20183	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.07697	B	.;.;.;.;.	.;.;.;.;.	0.500888	0.08699	5.472	0.65236316053382504	0.07716	0.07117	0.13143	N	AEFDGI	0.095052	0.19211	N	-0.822561852315411	0.12735	0.6226619	-0.690753749101257	0.17191	0.9129963	7.32118626142012E-5	0.04552	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.91	2.48	0.29194	-0.292000	0.08368	-0.169000	0.11245	0.602000	0.45918	0.009000	0.18154	0.001000	0.17328	0.972000	0.54974	0.0:0.1982:0.0:0.8018	7.030	0.24139	892	0.26670	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1431.98	36	chr1	25388999	.	T	C	1431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.323e+00;DP=854;ExcessHet=0.0000;FS=2.875;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.06;MQRankSum=-1.760e+00;QD=9.18;ReadPosRankSum=0.153;SOR=0.978	GT:AD:DP:GQ:PL	0/1:90,66:156:99:1446,0,2290	20	0	1	0
chr1	25390838	25390838	T	C	exonic	RHCE	.	nonsynonymous SNV	RHCE:NM_001330430:exon5:c.A712G:p.M238V	Rh-null disease, amorph type (3)	.	425	1094	3	0	0	3	0.00136924	.	.	707284	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.346	N	0.999	N	-2.72	N	2.05	T	-0.991	T	0.004	T	0.145	-1.809	0.009	-4.0	-1.156	-1.317	4.862	0.057	.	0.0032	0.00419329	0.0013	0.0130	0.0003	0	0	8.99e-05	0.0011	0.0010	0.0012419	192	154602	rs144163296	0.0005	0.0005	0.0005	0.0004	0.0121	0.0004	0.0004	0.0112	0.0108	0.0121	0.0008	3.826e-05	7.557e-05	0	0.0007	6.475e-05	0.0012	0.0010	0.0032	0.0033	0.0033	0.0031	0.0110	0.0030	0.0029	0.0102	0.0099	0.0110	0	0.0011	0	0	0	0	8.819e-05	0.0019	0.0017	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.345513	0.13897	N	0.698537	1	0.22000	N	.	.	.	2.05	0.20664	T	1.76	0.00621	N	0.081	0.05799	-0.9914	0.32244	T	0.004	0.01400	T	10	0.005721599	0.00127	T	.	.	.	0.057	0.16321	.	.	0.151262610727	0.14761	0.1613172027514637	0.16052	0.301826712616	0.32518	0.35189974308	0.18201	T	.	.	.	-0.675839	0.00051	T	-0.734178	0.04141	T	0.00425271534305615	0.00045	T	0.422258	0.11242	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00080	B	.;.;.;.	.;.;.;.	-1.503463	0.00293	0.005	0.30420393131976675	0.01663	0.00233	0.01302	N	AEFDGI	0.075218	0.15099	N	-2.07399304070336	0.00146	0.006251161	-1.99267885322195	0.00317	0.01401101	8.6322821071111E-5	0.04703	0.549168	0.22868	0	0.610034	0.51514	0	0.491513	0.07944	0	0.616125	0.45549	0	.	.	4.08	-4.0	0.03787	-0.968000	0.03928	-2.682000	0.03472	-0.928000	0.02159	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	0.2612:0.214:0.0:0.5248	4.862	0.12947	885	0.28214	Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-like domain;Ammonium transporter AmtB-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	0.02381	1141.98	33	chr1	25390838	.	T	C	1141.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.510e-01;DP=945;ExcessHet=0.0000;FS=17.497;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.04;MQRankSum=-1.266e+01;QD=6.64;ReadPosRankSum=1.85;SOR=1.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,39:172:99:0|1:25390817_G_C:1156,0,5192:25390817	20	0	1	0
chr1	26170141	26170141	C	T	exonic	ZNF593	.	nonsynonymous SNV	ZNF593:NM_015871:exon1:c.C158T:p.P53L,	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.027	B	0.012	B	0.001	N	0.718	D	0.595	N	0.96	T	-1.045	T	0.011	T	0.508	1.619	11.37	4.71	1.347	1.123	7.557	0.193	.	0.0082	0.0123802	0.0053	0.0484	0.0130	0	0	0.0013	0	0.0002	0.0023803	368	154602	rs76775439	0.0014	0.0014	0.0015	0.0013	0.0334	0.0014	0.0013	0.0317	0.0310	0.0334	0.0040	0.0017	0	0	0.0047	0.0004	0.0037	0.0002	0.0094	0.0094	0.0097	0.0091	0.0304	0.0090	0.0088	0.0290	0.0285	0.0304	0	0.0059	0.0017	0	0	0.0034	0.0006	0.0095	0.0002	0.669	0.05076	T	0.648	0.06788	T	0.027	0.19556	B	0.012	0.16012	B	0.001154	0.40056	N	0.261875	0.717837	0.33585	D	0.785	0.19527	N	0.96	0.44461	T	0.87	0.29114	N	0.255	0.28849	-1.0452	0.15767	T	0.011	0.03949	T	10	0.006397307	0.00145	T	.	.	.	0.193	0.47281	.	.	0.272205846399	0.26826	0.586562092368773	0.58586	0.619716322566	0.56308	0.61102449894	0.54461	T	0.008809	0.08886	T	-0.469678	0.00854	T	-0.423751	0.30645	T	0.0137491613762883	0.00258	T	0.794521	0.43681	T	0.039990753	0.05625	0.05376432	0.09118	0.039990753	0.05624	0.05376432	0.09118	-3.536	0.16940	T	.	.	0.118	0.39528	B	.;.	.;.	1.903334	0.24177	16.30	0.87975301653202231	0.17622	0.34110	0.24989	N	ALL	0.154546	0.27959	N	-0.502822710899171	0.21988	1.170947	-0.346871005546974	0.26606	1.470699	0.999999999999984	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.63	4.71	0.59010	1.227000	0.32179	3.977000	0.40873	-0.177000	0.10537	0.831000	0.30147	0.999000	0.35428	0.017000	0.10941	0.1654:0.7512:0.0:0.0834	7.557	0.26996	411	0.82069	.;.	.	.	.	.	.	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	0.02381	1096.98	34	chr1	26170141	.	C	T	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=804;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.411;SOR=0.666	GT:AD:DP:GQ:PL	0/1:43,46:89:99:1111,0,923	20	0	1	0
chr1	26188925	26188925	G	A	exonic	CNKSR1	.	nonsynonymous SNV	CNKSR1:NM_001297647:exon20:c.G1865A:p.R622H	.	.	0	1516	6	0	0	6	0.00197498	.	.	718874	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.086	B	0.005	B	0.056	N	1.000	N	1.13	L	2.4	T	-1.016	T	0.006	T	0.129	3.208	16.75	2.41	0.772	0.798	1.911	0.037	.	0.0085	0.00898562	0.0027	0.0226	0.0044	0	0	0.0005	0.0022	0.0001	0.0026067	403	154602	rs61762998	0.0012	0.0012	0.0013	0.0011	0.0242	0.0012	0.0011	0.0228	0.0222	0.0242	0.0036	0.0016	0	0	0.0045	0.0005	0.0031	0.0002	0.0067	0.0067	0.0069	0.0064	0.0209	0.0063	0.0062	0.0197	0.0193	0.0209	0	0.0051	0.0017	0	0	0.0034	0.0007	0.0071	0.0002	0.107	0.29823	T	0.358	0.17064	T	0.086	0.24919	B	0.005	0.11217	B	0.055934	0.22601	N	0.495802	0.999997	0.08975	N	2.01	0.54746	M	2.4	0.15843	T	-1.3	0.42957	N	0.197	0.21710	-1.0164	0.24884	T	0.006	0.02055	T	10	0.003865391	0.00073	T	.	.	.	0.037	0.09474	.	.	0.177238962908	0.17366	0.1476650536286772	0.14688	0.271329387605	0.29656	0.355691462755	0.18757	T	0.007992	0.07355	T	-0.602239	0.00141	T	-0.620931	0.11113	T	0.00744029707040835	0.00086	T	0.849215	0.53152	T	0.034272753	0.03813	0.031375095	0.01718	0.034272753	0.03812	0.031375095	0.01717	-7.114	0.56771	T	.	.	0.082	0.11220	B	.;.;.	.;.;.	2.894708	0.38345	20.7	0.9986539473907623	0.94366	0.24268	0.22340	N	AEFDBI	0.116125	0.22804	N	-0.45577811563148	0.23545	1.265122	-0.347935149040524	0.26572	1.468653	1.76468148043862E-4	0.05786	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.542086	0.14980	0	.	.	5.74	2.41	0.28644	0.748000	0.25970	1.808000	0.28938	0.676000	0.76740	0.324000	0.25538	0.948000	0.28948	0.987000	0.62547	0.2402:0.1166:0.461:0.1822	1.911	0.03086	413	0.81939	.;.;.	.	.	.	.	.	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	0.02381	1167.98	33	chr1	26188925	.	G	A	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=782;ExcessHet=0.0000;FS=0.810;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.43;ReadPosRankSum=-1.533e+00;SOR=0.830	GT:AD:DP:GQ:PL	0/1:43,44:87:99:1182,0,1022	20	0	1	0
chr1	26200834	26200834	G	A	exonic	CATSPER4	.	nonsynonymous SNV	CATSPER4:NM_198137:exon8:c.G992A:p.G331D,	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.021	B	0.016	B	0.680	N	1.000	N	0.49	N	-4.36	D	-0.219	T	0.466	T	0.07	0.887	8.602	-0.082	-0.238	-0.748	2.996	0.136	.	0.0083	0.00858626	0.0026	0.0216	0.0044	0	0	0.0005	0.0022	0.0001	0.0025549	395	154602	rs80228909	0.0012	0.0012	0.0013	0.0011	0.0240	0.0011	0.0011	0.0226	0.0221	0.0240	0.0035	0.0016	0	0	0.0045	0.0004	0.0030	0.0002	0.0066	0.0066	0.0068	0.0063	0.0208	0.0062	0.0061	0.0196	0.0192	0.0208	0	0.0048	0.0017	0	0	0.0034	0.0006	0.0066	0.0002	0.213	0.19430	T	0.306	0.19972	T	0.012	0.16265	B	0.006	0.12133	B	0.679539	0.06084	N	1.206920	1	0.08975	N	0.695	0.17993	N	-4.37	0.97343	D	-0.04	0.07590	N	0.173	0.18512	-0.2187	0.77185	T	0.466	0.79383	T	10	0.0032977164	0.00057	T	.	.	.	0.136	0.36778	.	.	0.45470266194	0.45092	0.5923645865950602	0.59166	0.231487563342	0.25701	0.294064283371	0.09518	T	0.022173	0.17138	T	-0.403609	0.02192	T	-0.335613	0.40841	T	0.000436859698701168	0.00003	T	0.470053	0.13899	T	0.036906425	0.04632	0.063858695	0.12712	0.036906425	0.04631	0.063858695	0.12712	-2.577	0.06330	T	.	.	0.070	0.06433	B	.;.	.;.	-0.208363	0.03048	0.471	0.78245153556603186	0.12217	0.03672	0.08936	N	AEFDBCI	0.042926	0.06722	N	-1.22054054243808	0.04703	0.2128111	-1.24542602851954	0.05198	0.2471426	0.999970743878914	0.50053	0.455138	0.09556	0	0.59043	0.45803	0	0.606884	0.38211	0	0.542086	0.14980	0	.	.	4.21	-0.0823	0.13033	-0.715000	0.05099	-0.315000	0.10009	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3447:0.0:0.4617:0.1935	2.996	0.05632	412	0.82007	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	714.98	36	chr1	26200834	.	G	A	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.90;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=0.272;SOR=0.760	GT:AD:DP:GQ:PL	0/1:31,24:55:99:729,0,931	20	0	1	0
chr1	26282323	26282323	A	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	33415.17	33	chr1	26282323	.	A	G,*	33415.17	.	AC=30,8;AF=0.714,0.190;AN=42;BaseQRankSum=0.532;DP=976;ExcessHet=0.6776;FS=0.923;InbreedingCoeff=-0.1053;MLEAC=30,8;MLEAF=0.714,0.190;MQ=60.00;MQRankSum=0.00;QD=31.59;ReadPosRankSum=-6.110e-01;SOR=0.855	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,36,4:40:61:1|0:26282320_TCCAGGACAGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGACCGGGACTGGGGCCGGGACCGGGA_T:1768,175,61,1516,0,1498:26282320	0	9	4	0
chr1	26282334	26282341	TGGGGCCG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9122.57	35	chr1	26282334	.	TGGGGCCG	*,T	9122.57	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=0.857;DP=1017;ExcessHet=1.5101;FS=6.482;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=-6.330e-01;SOR=1.134	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,4,16:45:99:0|1:26282334_TGGGGCCG_*:678,501,1533,0,874,996:26282334	8	0	0	0
chr1	26282344	26282361	ACCGGGACCGGGACTGGG	0	exonic	UBXN11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	9155.21	37	chr1	26282344	.	ACCGGGACCGGGACTGGG	*,A	9155.21	.	AC=3,13;AF=0.071,0.310;AN=42;BaseQRankSum=1.27;DP=1066;ExcessHet=1.5101;FS=6.447;InbreedingCoeff=-0.0096;MLEAC=3,13;MLEAF=0.071,0.310;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=-2.630e-01;SOR=1.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,4,16:46:99:0|1:26282334_TGGGGCCG_*:675,501,1575,0,916,1038:26282334	8	0	0	0
chr1	26282357	26282367	CTGGGGCCGGG	0	exonic	UBXN11	.	.	.	.	.	386	373	210	27	526	790	0.261386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	11163.93	50	chr1	26282357	.	CTGGGGCCGGG	C,*	11163.93	.	AC=10,16;AF=0.238,0.381;AN=42;BaseQRankSum=0.187;DP=1169;ExcessHet=10.5502;FS=6.433;InbreedingCoeff=-0.4135;MLEAC=10,16;MLEAF=0.238,0.381;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.857;SOR=1.118	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:26,0,16:46:99:0|1:26282334_TGGGGCCG_*:675,716,1801,0,1092,1038:26282334	1	0	7	0
chr1	26282374	26282376	ACC	0	exonic	UBXN11	.	.	.	.	.	400	608	276	45	193	559	0.231353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14396.36	49	chr1	26282374	.	ACC	*,A	14396.36	.	AC=10,12;AF=0.294,0.353;AN=34;BaseQRankSum=-8.440e-01;DP=1160;ExcessHet=1.0911;FS=8.398;InbreedingCoeff=-0.1667;MLEAC=11,13;MLEAF=0.324,0.382;MQ=60.00;MQRankSum=0.00;QD=16.49;ReadPosRankSum=0.737;SOR=0.276	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:17,4,29:50:99:0|1:26282278_C_T:1106,985,1684,0,543,708:26282278	1	0	5	4
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11324.73	50	chr1	26282386	.	GCCGGGA	*,G	11324.73	.	AC=12,10;AF=0.353,0.294;AN=34;BaseQRankSum=0.255;DP=1262;ExcessHet=1.0911;FS=8.945;InbreedingCoeff=-0.1667;MLEAC=13,11;MLEAF=0.382,0.324;MQ=60.00;MQRankSum=0.00;QD=12.38;ReadPosRankSum=2.17;SOR=0.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:24,27,0:55:99:0|1:26282278_C_T:983,0,1147,1077,1115,2180:26282278	1	1	5	4
chr1	29121496	29121496	G	T	exonic	TMEM200B	.	nonsynonymous SNV	TMEM200B:NM_001003682:exon2:c.C333A:p.H111Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.665	P	0.645	P	0.783	U	0.682	N	0.69	N	.	.	-0.936	T	0.109	T	0.263	0.497	6.695	2.68	0.845	0.421	7.404	0.105	0.503310792359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.188e-06	2.052e-06	2.876e-06	1.48e-06	2.549e-05	5.8e-07	1.6e-07	4.23e-06	1.58e-06	0	0	0	0	0	0	9.328e-07	0	2.549e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.03	0.54159	D	0.665	0.41045	P	0.645	0.52270	P	0.782758	0.09458	U	0.861575	0.682192	0.30268	N	1.39	0.34934	L	.	.	.	-0.24	0.10833	N	0.151	0.15469	-0.9363	0.43195	T	0.109	0.39415	T	9	0.22330481	0.39105	T	0.503311	0.95187	D	0.105	0.29889	0.41	0.44559	0.0986583533028	0.09354	0.49207230465119717	0.49128	1.08704428983	0.77318	0.87328004837	0.93034	D	0.06174	0.31733	T	-0.123376	0.32572	T	-0.414997	0.31651	T	0.153108142345007	0.17349	T	0.380662	0.09189	T	0.091480896	0.21436	0.089413054	0.20908	0.091480896	0.21436	0.089413054	0.20908	-3.002	0.10202	T	.	.	0.142	0.31228	B	.;.	.;.	2.101982	0.26743	17.22	0.73224043759663704	0.10251	0.70760	0.34725	D	AEFDBHCIJ	0.360147	0.45022	N	-0.35479392712963	0.27097	1.483951	-0.371813917804481	0.25840	1.423591	0.999999997381287	0.74766	0.652421	0.48094	0	0.596394	0.48810	0	0.64067	0.45733	0	0.636	0.56748	0	.	.	3.6	2.68	0.30839	0.150000	0.16082	0.645000	0.20357	-0.301000	0.06190	0.221000	0.24547	0.995000	0.32472	0.942000	0.48361	0.2188:0.0:0.7812:0.0	7.404	0.26154	583	0.69484	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	628.98	33	chr1	29121496	.	G	T	628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=723;ExcessHet=0.0000;FS=5.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.06;ReadPosRankSum=-1.142e+00;SOR=1.093	GT:AD:DP:GQ:PL	0/1:12,21:33:99:643,0,262	20	0	1	0
chr1	32782431	32782431	C	T	exonic	YARS1	.	nonsynonymous SNV	YARS1:NM_003680:exon9:c.G1015A:p.A339T,	.	.	1	1470	50	1	0	52	0.0173797	.	.	212087	Charcot-Marie-Tooth_disease_dominant_intermediate_C|not_specified|not_provided	MONDO:MONDO:0012012,MedGen:C1842237,OMIM:608323,Orphanet:100045|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.31	T	0.002	B	0.0	B	0.022	N	0.998	D	1.24	L	-0.71	T	-0.857	T	0.208	T	0.063	1.847	12.14	3.74	1.334	0.630	9.054	0.078	.	0.0005	0.00359425	0.0030	0.0004	0.0010	0	0	0.0010	0.0044	0.0170	0.0026843	415	154602	rs141323599	0.0019	0.0019	0.0015	0.0024	0.0163	0.0019	0.0019	0.0156	0.0154	0.0001	0.0007	3.826e-05	0	1.872e-05	0.0095	0.0011	0.0022	0.0163	0.0012	0.0012	0.0011	0.0014	0.0176	0.0011	0.0010	0.0146	0.0135	0.0002	0	0.0007	0	0.0004	0	0.0136	0.0011	0.0014	0.0176	0.341	0.12673	T	0.404	0.22359	T	0.002	0.09854	B	0.0	0.01387	B	0.022356	0.26651	N	0.454930	0.998439	0.44913	D	1.01	0.25309	L	-0.71	0.72889	T	-0.49	0.15578	N	0.135	0.13198	-0.8569	0.51484	T	0.208	0.56744	T	10	0.0041731894	0.00083	T	.	.	.	0.078	0.22779	.	.	0.7307814426	0.72839	0.24667008812608252	0.24581	0.330966287999	0.35175	0.421475112438	0.28040	T	0.151994	0.49219	T	-0.520911	0.00435	T	-0.507404	0.21583	T	0.00735544030599977	0.00084	T	0.782022	0.54691	T	0.110990934	0.26231	0.056756414	0.10197	0.11410718	0.26942	0.06377726	0.12684	-4.694	0.33331	T	0.08938174651911067	0.05458	0.070	0.03301	B	.;.	.;.	2.461577	0.31708	18.82	0.98406145097364284	0.41126	0.47895	0.28085	N	AEFGBCI	0.208756	0.33481	N	-0.443410377705995	0.23964	1.290636	-0.336812921959971	0.26920	1.490246	0.999557891892919	0.40362	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.635259	0.50027	0	.	.	4.65	3.74	0.42108	0.665000	0.24764	1.068000	0.23780	0.599000	0.40250	0.153000	0.23698	0.508000	0.25241	0.994000	0.71098	0.1465:0.7765:0.0:0.0771	9.054	0.35554	293	0.88320	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1241.98	39	chr1	32782431	.	C	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.636;DP=799;ExcessHet=0.0000;FS=3.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=1.44;SOR=1.145	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1256,0,806	20	0	1	0
chr1	35841671	35841671	A	T	exonic	AGO4	.	nonsynonymous SNV	AGO4:NM_017629:exon15:c.A2096T:p.D699V,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.923	P	0.616	P	0.000	D	1.000	D	2.195	M	1.48	T	-0.920	T	0.134	T	0.705	4.798	27.1	5.67	2.164	9.215	15.919	0.298	0.0368278352249	7.7e-05	.	4.121e-05	0	0.0002	0	0	4.497e-05	0	0	3.88e-05	6	154602	rs145609935	3.762e-05	3.762e-05	4.492e-05	3.025e-05	0.0002	2.96e-05	2.656e-05	0.0001	7.816e-05	0	0.0002	0	0	0	0.0002	3.777e-05	4.968e-05	0	6.575e-05	6.567e-05	7.712e-05	5.384e-05	0.0003	3.519e-05	2.618e-05	8.885e-05	5.391e-05	0	0	0.0003	0	0	0	0	8.82e-05	0	0	0.011	0.55530	D	0.006	0.70582	D	0.923	0.51194	P	0.616	0.51268	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.18	0.61292	M	1.48	0.31731	T	-5.43	0.85323	D	0.674	0.68169	-0.9205	0.45486	T	0.134	0.44778	T	10	0.58995545	0.66324	D	0.036828	0.57236	D	0.298	0.61843	.	.	0.477794650704	0.47409	0.8482155204350722	0.84782	2.04135079315	0.94267	0.875310480595	0.93318	D	0.396367	0.75501	T	-0.134258	0.30810	T	-0.137142	0.60365	T	0.406061355304147	0.29170	T	0.983335	0.94364	D	0.7784789	0.82561	0.7697341	0.86404	0.7784789	0.82562	0.7697341	0.86404	-13.529	0.91424	D	.	.	0.572	0.67715	P	.	.	4.765008	0.77079	26.6	0.99409953787880556	0.63216	0.99026	0.90144	D	AEFDBI	0.879677	0.80579	D	0.706566342324271	0.80064	7.21195	0.733037379724311	0.84886	8.418772	0.999999965746671	0.74766	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.67	5.67	0.87673	9.202000	0.94160	10.998000	0.84743	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.919	0.79334	160	0.93798	Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	551.98	35	chr1	35841671	.	A	T	551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=800;ExcessHet=0.0000;FS=1.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.89;ReadPosRankSum=0.780;SOR=0.530	GT:AD:DP:GQ:PL	0/1:46,24:70:99:566,0,1144	20	0	1	0
chr1	36086828	36086828	C	T	exonic	TEKT2	.	nonsynonymous SNV	TEKT2:NM_014466:exon5:c.C613T:p.P205S,	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.984	D	0.841	P	0.000	D	1.000	D	1.34	L	4.43	T	-0.887	T	0.016	T	0.7	2.972	15.91	5.64	2.654	5.971	19.699	0.296	0.0690138742328	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs760078059	9.577e-06	9.577e-06	1.361e-05	5.5e-06	0.0002	5.56e-06	4.35e-06	1.779e-05	8.93e-06	0	6.708e-05	0	0	0	0.0002	7.194e-06	3.311e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	0.0001	5.24e-06	2.45e-06	2.263e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0	0.309	0.14064	T	0.113	0.36901	T	0.984	0.60733	D	0.841	0.60228	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.285	0.32305	L	4.43	0.02158	T	-3.35	0.66436	D	0.773	0.77039	-0.8867	0.49215	T	0.016	0.06664	T	10	0.7442479	0.75174	D	0.069014	0.70612	D	0.296	0.61616	0.584	0.71118	0.256793551483	0.25290	0.6682317630948009	0.66761	0.315545276753	0.33830	0.540405809879	0.44502	T	0.233642	0.60049	T	-0.154469	0.27615	T	-0.262689	0.48555	T	0.81372857093811	0.47314	D	0.905909	0.66829	D	0.32133803	0.54752	0.43558022	0.67039	0.32133803	0.54752	0.43558022	0.67040	-6.646	0.51403	T	.	.	0.231	0.46389	B	.	.	3.539115	0.49694	22.8	0.99650067440537848	0.77254	0.98286	0.81270	D	AEFDBI	0.786375	0.71648	D	0.316110703133633	0.56975	3.863297	0.325400401473668	0.57037	3.868201	0.99999999999999	0.74766	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	6.085000	0.70992	5.912000	0.51036	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.606000	0.31539	0.0:1.0:0.0:0.0	19.699	0.96040	177	0.93145	.	.	.	.	.	.	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	0.02381	2774.98	35	chr1	36086828	.	C	T	2774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.70;DP=909;ExcessHet=0.0000;FS=0.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-1.198e+00;SOR=0.647	GT:AD:DP:GQ:PL	0/1:112,105:217:99:2789,0,2702	20	0	1	0
chr1	36289168	36289168	G	C	exonic	THRAP3	.	nonsynonymous SNV	THRAP3:NM_001321473:exon5:c.G1149C:p.L383F	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.852	P	0.509	P	0.021	N	0.948	N	1.1	L	2.47	T	-1.071	T	0.029	T	0.301	2.369	13.88	2.03	0.498	1.024	2.991	0.090	0.00365096861627	0.0005	0.000399361	0.0007	0.0003	0.0003	0	0	0.0005	0.0022	0.0025	0.0005757	89	154602	rs143880396	0.0006	0.0006	0.0005	0.0007	0.0026	0.0005	0.0005	0.0023	0.0022	8.961e-05	0.0002	0	0	0	0	0.0005	0.0006	0.0026	0.0004	0.0004	0.0004	0.0004	0.0023	0.0003	0.0003	0.0013	0.0010	0.0002	0	0.0001	0	0	0	0	0.0005	0.0005	0.0023	0.114	0.28646	T	0.717	0.05398	T	0.852	0.47012	P	0.509	0.47904	P	0.021364	0.26847	N	0.259072	0.947668	0.26593	N	1.445	0.36358	L	2.47	0.14783	T	-0.11	0.08653	N	0.149	0.15187	-1.0709	0.09216	T	0.029	0.12365	T	10	0.008604348	0.00195	T	0.003651	0.08402	T	0.090	0.26093	0.109	0.01988	0.128874641272	0.12493	0.031235033467607348	0.03072	1.29145872245	0.82792	0.397834897041	0.24768	T	0.10514	0.41534	T	-0.520429	0.00438	T	-0.525574	0.19731	T	0.0256025769630305	0.01352	T	0.847115	0.52772	T	0.037835494	0.04926	0.052640162	0.08711	0.037835494	0.04925	0.052640162	0.08710	-3.059	0.10831	T	.	.	0.063	0.04806	B	.;.;.	.;.;.	2.622597	0.34083	19.53	0.9975862959388142	0.84851	0.94965	0.62950	D	AEFBI	0.326876	0.42802	N	-0.0582867665394554	0.39233	2.310331	-0.0280581160971079	0.38453	2.266	0.870680260429495	0.25410	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.94	2.03	0.25714	0.663000	0.24735	3.907000	0.40386	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2759:0.0:0.5216:0.2026	2.991	0.05619	128	0.94857	.;.;.	.	.	.	.	.	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	0.02381	386.98	31	chr1	36289168	.	G	C	386.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.061e+00;DP=689;ExcessHet=0.0000;FS=2.958;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=-1.500e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/1:20,15:35:99:401,0,597	20	0	1	0
chr1	37762050	37762050	G	A	exonic	EPHA10	.	nonsynonymous SNV	EPHA10:NM_001099439:exon3:c.C205T:p.R69C	.	.	424	1069	26	3	0	32	0.0147465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.926	D	0.004	N	1.000	D	1.935	M	3.8	T	-1.180	T	0.036	T	0.592	3.548	18.10	2.48	0.543	2.289	11.672	0.134	0.0107500328856	0.0002	0.00179712	0.0019	0	0.0017	0.0001	0.0003	0.0019	0.0036	0.0056	0.0017852	276	154602	rs139705028	0.0016	0.0016	0.0015	0.0017	0.0070	0.0015	0.0015	0.0053	0.0047	0.0002	0.0016	0.0056	2.528e-05	0.0004	0.0070	0.0014	0.0018	0.0044	0.0015	0.0015	0.0014	0.0016	0.0039	0.0013	0.0013	0.0026	0.0021	0.0002	0	0.0027	0.0078	0	0	0.0102	0.0018	0.0033	0.0039	0.024	0.51248	D	0.031	0.53788	D	1.0	0.90584	D	0.926	0.66095	D	0.003624	0.34687	N	0.000000	0.547086	0.32102	D	1.905	0.50856	L	3.8	0.03781	T	-2.71	0.63207	D	0.528	0.60156	-1.1805	0.00362	T	0.036	0.15640	T	10	0.01110065	0.00244	T	0.01075	0.27641	T	0.134	0.36365	.	.	0.529060795929	0.52553	0.5526234330180877	0.55188	2.0033223038	0.93854	0.541827976704	0.44704	T	0.012956	0.15043	T	-0.443677	0.01230	T	-0.407754	0.32484	T	0.057858107406869	0.06828	T	0.977502	0.92063	D	0.15972182	0.35864	0.1407969	0.33551	0.15972182	0.35864	0.1407969	0.33550	-11.209	0.82735	D	.	.	0.383	0.62538	A	.;.;.	.;.;.	4.949938	0.81757	27.6	0.99882816473633473	0.95892	0.83327	0.42453	D	AEFBCI	0.471265	0.51688	N	0.362125253705163	0.59383	4.117242	0.288604604815824	0.54874	3.651146	1.1917662807318E-4	0.05269	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	4.47	2.48	0.29194	2.376000	0.43947	6.517000	0.55822	0.665000	0.62972	0.209000	0.24412	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.3893:0.6107	11.672	0.50668	850	0.35610	Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain;Ephrin receptor ligand binding domain|Ephrin receptor ligand binding domain|Ephrin receptor ligand 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	0.02381	962.98	37	chr1	37762050	.	G	A	962.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.10;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=1.37;SOR=0.596	GT:AD:DP:GQ:PL	0/1:44,33:77:99:977,0,1166	20	0	1	0
chr1	38018559	38018559	G	C	exonic	UTP11	.	nonsynonymous SNV	UTP11:NM_016037:exon4:c.G324C:p.K108N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.972	D	0.000	D	1.000	D	3.345	M	.	.	-0.227	T	0.449	T	0.477	3.565	18.17	2.22	0.497	0.252	9.297	0.490	0.0167503973626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0022	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0006	4.502e-05	0.0002	5.069e-05	0	0.0002	0.0007	0.0005	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.011	0.64786	D	0.999	0.77913	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	3.19	0.88972	M	.	.	.	-4.29	0.76414	D	0.835	0.83066	-0.2270	0.76966	T	0.449	0.78378	T	9	0.83418137	0.82576	D	0.01675	0.38152	T	0.490	0.77720	0.658	0.79585	0.617871938043	0.61477	0.7476237047205977	0.74708	0.921248380214	0.71459	0.757096290588	0.75498	T	0.412309	0.76651	T	0.0450001	0.57697	T	-0.173137	0.57156	T	0.995210707187653	0.87030	D	0.915408	0.69775	D	0.9537454	0.96647	0.87148213	0.92969	0.9537454	0.96648	0.87148213	0.92969	-9.692	0.72047	D	.	.	0.956	0.87520	P	.	.	3.385722	0.46848	22.4	0.99798773293668863	0.88372	0.86532	0.45832	D	AEFBI	0.315619	0.42014	N	0.307375534586297	0.56526	3.817	0.217027884145324	0.50791	3.267573	0.186501081710576	0.17944	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.07	2.22	0.27116	0.341000	0.19652	2.649000	0.33803	-0.102000	0.15922	0.995000	0.38783	1.000000	0.68203	0.994000	0.71098	0.729:0.0:0.271:0.0	9.297	0.36983	409	0.82198	.	.	.	.	.	.	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	0.0625	408.29	34	chr1	38018559	.	G	C	408.29	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-2.071e+00;DP=1434;ExcessHet=0.1072;FS=158.603;InbreedingCoeff=-0.1270;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=2.46;ReadPosRankSum=1.48;SOR=7.523	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,7:66:6:0|1:38018559_G_C:6,0,2357:38018559	14	0	2	5
chr1	39412195	39412197	GAG	-	exonic	KIAA0754	.	nonframeshift deletion	KIAA0754:NM_015038:exon1:c.1930_1932del:p.E645del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2716.94	35	chr1	39412194	.	TGAG	T	2716.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.830;DP=832;ExcessHet=0.0000;FS=2.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.45;ReadPosRankSum=0.037;SOR=0.920	GT:AD:DP:GQ:PL	0/1:52,69:121:99:2731,0,1965	20	0	1	0
chr1	39511904	39511905	GG	-	exonic;splicing	BMP8A;BMP8A	.	frameshift deletion	BMP8A:NM_181809:exon3:c.673delG:p.H226Tfs*40,	.	.	546	26	383	566	1	1516	0.966816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1284964917	3.274e-06	4.184e-06	2.207e-06	4.319e-06	3.209e-05	8.7e-07	2.4e-07	5.1e-07	1.9e-07	0	3.209e-05	0	0	0	0	3.046e-06	0	0	9.616e-06	1.344e-05	0	2.033e-05	0.0001	0	0	.	.	0	0	0.0001	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	7775.32	8	chr1	39511903	.	CGG	TGG,C	7775.32	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=2.52;DP=302;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2724;MLEAC=32,1;MLEAF=0.762,0.024;MQ=26.98;MQRankSum=0.00;QD=26.63;ReadPosRankSum=0.072;SOR=3.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:5,10,0:15:99:.:.:273,0,113,288,144,431	0	12	8	0
chr1	43427063	43427063	G	A	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon23:c.G3146A:p.G1049D	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2858119	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.74	T	0.02	B	0.023	B	0.386	N	1.000	N	1.1	L	.	.	-1.009	T	0.058	T	0.327	0.436	6.367	0.514	-0.004	-0.024	3.320	0.089	0.00474957662942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.052	0.47581	T	0.02	0.18235	B	0.023	0.19966	B	0.386328	0.13318	N	0.710219	1	0.08975	N	0.205	0.09354	N	.	.	.	0.25	0.04456	N	0.453	0.49055	-1.0090	0.27230	T	0.058	0.24502	T	9	0.1132727	0.21274	T	0.00475	0.11847	T	.	.	0.267	0.21418	0.0806252709748	0.07271	0.4510180691671138	0.45019	1.05101900575	0.76142	0.290060341358	0.08931	T	0.016715	0.13762	T	-0.120713	0.33007	T	-0.411172	0.32090	T	0.0833896815947722	0.10415	T	0.526147	0.17328	T	0.039175786	0.05359	0.06174293	0.11972	0.039175786	0.05359	0.06174293	0.11971	-3.469	0.18074	T	0.13821983871004878	0.15274	0.089	0.12371	B	.;.	.;.	1.186803	0.15778	12.10	0.85010614056869593	0.15631	0.07806	0.13802	N	AEFBI	0.044370	0.07131	N	-0.964678824252456	0.09366	0.4429646	-0.978313347079297	0.10273	0.516332	0.604620756832126	0.21755	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.8	0.514	0.16206	0.242000	0.17862	1.063000	0.23738	0.676000	0.76740	0.065000	0.21925	0.006000	0.19429	0.987000	0.62547	0.0939:0.1459:0.4622:0.2979	3.320	0.06634	766	0.49742	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2473.98	35	chr1	43427063	.	G	A	2473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.313;DP=949;ExcessHet=0.0000;FS=3.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.299;SOR=0.484	GT:AD:DP:GQ:PL	0/1:100,100:200:99:2488,0,2494	20	0	1	0
chr1	44139823	44139824	CG	-	exonic	KLF18	.	frameshift deletion	KLF18:NM_001358438:exon1:c.1808_1809del:p.T603Nfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4401.94	142	chr1	44139822	.	TCG	T	4401.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.22;DP=6429;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.24;MQRankSum=1.64;QD=9.96;ReadPosRankSum=-4.873e+00;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:313,129:442:99:0|1:44139822_TCG_T:4416,0,12653:44139822	20	0	1	0
chr1	44139826	44139865	CACCTGCTCCCCACAAAGGGTCTGGTTACTAGTGGAGGTC	-	exonic	KLF18	.	frameshift deletion	KLF18:NM_001358438:exon1:c.1767_1806del:p.T590Rfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4154.94	142	chr1	44139825	.	TCACCTGCTCCCCACAAAGGGTCTGGTTACTAGTGGAGGTC	T	4154.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.85;DP=6497;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.31;MQRankSum=3.65;QD=7.96;ReadPosRankSum=-5.389e+00;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:393,129:522:99:0|1:44139822_TCG_T:4169,0,16016:44139822	20	0	1	0
chr1	44139887	44139887	G	T	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.C1745A:p.T582N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.545e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.298	0.20486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.08366	.	.	.	.	.	.	.	0.13006252	0.24751	T	.	.	.	.	.	.	.	.	.	0.02449652202884905	0.02400	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346965	0.07635	T	0.027212223	0.01880	0.07506897	0.16489	0.027212223	0.01880	0.07506897	0.16489	-8.194	0.62385	D	.	.	0.064	0.01715	B	.	.	-0.041411	0.04006	0.913	0.67539890598987207	0.08385	0.20289	0.20985	N	AEFBI	.	.	.	.	.	.	.	.	.	2.25859919191036E-5	0.03498	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	2.34	1.42	0.21524	0.289000	0.18713	-4.436000	0.02157	-0.545000	0.04923	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.7648:0.2352	8.433	0.31932	222	0.91398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3045.98	142	chr1	44139887	.	G	T	3045.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.63;DP=6379;ExcessHet=0.0000;FS=0.619;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.85;MQRankSum=4.93;QD=7.54;ReadPosRankSum=-5.701e+00;SOR=0.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,95:404:99:0|1:44139822_TCG_T:3060,0,12646:44139822	20	0	1	0
chr1	44139897	44139897	T	C	exonic	KLF18	.	nonsynonymous SNV	KLF18:NM_001358438:exon1:c.A1735G:p.S579G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334942530	8.677e-06	3.658e-05	8.837e-06	8.523e-06	0.0002	1.44e-06	5.4e-07	.	.	0.0002	0	0	0	0	0	6.789e-06	0	0	1.481e-05	0.0008	1.446e-05	1.518e-05	1.594e-05	2.46e-06	9.2e-07	.	.	0	0	0	0	0	0.0001	0	1.594e-05	0	0	.	.	.	0.423	0.13993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00339	.	.	.	.	.	.	.	0.07668868	0.12010	T	.	.	.	.	.	.	.	.	.	0.015388456232058235	0.01494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267973	0.04452	T	0.041452024	0.06106	0.065019205	0.13116	0.041452024	0.06106	0.065019205	0.13116	-7.175	0.55302	T	.	.	0.072	0.04277	B	.	.	-1.223766	0.00508	0.011	0.13030476442963357	0.00244	0.00038	0.00324	N	AEFBI	.	.	.	.	.	.	.	.	.	2.13602005992968E-5	0.03498	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0443366	0.03230	2.34	-3.93	0.03868	-0.734000	0.04997	-11.043000	0.00641	-2.081000	0.00403	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.158:0.4856:0.0:0.3564	4.376	0.10704	222	0.91398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2079.98	142	chr1	44139897	.	T	C	2079.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.83;DP=6356;ExcessHet=0.0000;FS=2.208;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.82;MQRankSum=3.09;QD=5.46;ReadPosRankSum=-7.364e+00;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,72:381:99:0|1:44139822_TCG_T:2094,0,12716:44139822	20	0	1	0
chr1	46035072	46035072	G	T	exonic	MAST2	.	nonsynonymous SNV	MAST2:NM_001319245:exon29:c.G4400T:p.G1467V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.905	P	0.003	N	1.000	D	0.975	L	-0.16	T	-0.447	T	0.305	T	0.652	2.779	15.26	2.83	1.341	4.012	11.514	0.193	0.0373627508977	.	.	7.646e-05	0	0	0	0	6.179e-05	0.0034	0.0001	5.82e-05	9	154602	rs3737737	5.269e-05	5.267e-05	4.357e-05	6.19e-05	5.756e-05	4.279e-05	3.954e-05	4.612e-05	4.197e-05	0	0	0	0	0	0	5.756e-05	0.0002	3.478e-05	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.006	0.70582	D	0.995	0.67487	D	0.593	0.50536	P	0.002580	0.36316	N	0.222658	0.999999	0.81001	D	2.57	0.75187	M	-0.16	0.65378	T	-2.21	0.49684	N	0.497	0.53006	-0.4469	0.70502	T	0.305	0.67593	T	10	0.4219395	0.56922	T	0.037363	0.57572	D	0.193	0.47281	0.159	0.06287	0.847962216055	0.84650	0.17234931617036456	0.17154	0.83008999717	0.67584	0.607342362404	0.53940	T	0.020479	0.16118	T	-0.0267274	0.47890	T	-0.0725686	0.65443	T	0.166375330918714	0.18329	T	0.858914	0.54988	D	0.19908237	0.41834	0.24040319	0.49413	0.19908237	0.41834	0.24040319	0.49412	-4.319	0.28442	T	.	.	0.139	0.30397	B	.	.	3.762998	0.53999	23.4	0.99499605745659014	0.67973	0.91722	0.54125	D	AEFDBHCI	0.518607	0.54424	D	0.243458496471999	0.53315	3.501036	0.203666810095642	0.50049	3.201211	0.999999570681847	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.779548	0.98927	0	0.711	0.71501	0	.	.	4.71	2.83	0.32150	3.442000	0.52663	6.300000	0.55412	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.520000	0.29475	0.1547:0.0:0.8453:0.0	11.514	0.49757	80	0.96670	.	.	.	.	.	.	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	0.07143	5548.43	34	chr1	46035072	.	G	C,T	5548.43	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.064;DP=1182;ExcessHet=0.3300;FS=1.729;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.377;SOR=0.578	GT:AD:DP:GQ:PL	0/1:60,68,0:128:99:1740,0,1536,1920,1741,3661	18	0	2	0
chr1	50419106	50419106	G	0	exonic	DMRTA2	.	.	.	.	.	453	9	255	719	86	1779	0.98948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	13423.2	21	chr1	50419106	.	G	*,A	13423.2	.	AC=12,30;AF=0.286,0.714;AN=42;BaseQRankSum=-4.990e-01;DP=670;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=12,30;MLEAF=0.286,0.714;MQ=59.92;MQRankSum=0.00;QD=23.55;ReadPosRankSum=-7.700e-01;SOR=0.979	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,7,11:18:99:1|0:50419101_CCGGCGG_C:813,381,405,309,0,262:50419101	0	2	0	0
chr1	52393719	52393719	G	A	exonic	ORC1	.	nonsynonymous SNV	ORC1:NM_001190818:exon6:c.C806T:p.S269L	Meier-Gorlin syndrome 1, Autosomal recessive	.	0	1506	15	1	0	17	0.00561241	.	.	135310	not_provided|ORC1-related_disorder|not_specified|Meier-Gorlin_syndrome_1	MedGen:C3661900|.|MedGen:CN169374|MONDO:MONDO:0009143,MedGen:C4552001,OMIM:224690,Orphanet:2554	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.76	P	0.335	N	1.000	N	2.125	M	0.84	T	-0.880	T	0.170	T	0.234	2.356	13.84	4.3	1.388	2.495	11.560	0.105	.	0.0055	0.00379393	0.0056	0.0010	0.0014	0.0001	0.0195	0.0068	0.0088	0.0034	0.0058149	899	154602	rs61753390	0.0088	0.0088	0.0088	0.0087	0.0096	0.0087	0.0086	0.0095	0.0094	0.0015	0.0020	0.0011	5.038e-05	0.0216	0.0017	0.0096	0.0075	0.0038	0.0064	0.0064	0.0058	0.0070	0.0078	0.0060	0.0059	0.0072	0.0070	0.0014	0.0011	0.0043	0.0020	0.0002	0.0256	0.0137	0.0078	0.0057	0.0044	0.002	0.72154	D	0.011	0.64786	D	0.988	0.62325	D	0.525	0.48375	P	0.335270	0.14049	N	0.706961	0.99999	0.08975	N	2.655	0.77738	M	0.84	0.47477	T	-2.1	0.47852	N	0.299	0.33796	-0.8804	0.49730	T	0.170	0.51003	T	10	0.006951213	0.00158	T	.	.	.	0.105	0.29889	.	.	0.717440945425	0.71495	0.29575038545814014	0.29488	0.359641817996	0.37656	0.304480731487	0.11073	T	0.104097	0.41336	T	-0.46889	0.00864	T	-0.438343	0.28995	T	0.0258521919382443	0.01386	T	0.727827	0.34232	T	0.061225154	0.12653	0.09836881	0.23449	0.06833098	0.14877	0.09836881	0.23448	-4.571	0.31805	T	0.2795889446075671	0.37467	0.078	0.06849	B	.;.	.;.	3.291582	0.45147	22.1	0.99731349627309274	0.82761	0.50716	0.28727	D	AEFBCI	0.121702	0.23650	N	0.110104641492151	0.46933	2.92625	-0.0257266700589197	0.38557	2.273296	0.664343366118484	0.22305	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.24	4.3	0.50540	2.543000	0.45411	4.319000	0.42992	-0.104000	0.15758	0.748000	0.29111	1.000000	0.68203	0.099000	0.18236	0.0:0.1797:0.8203:0.0	11.560	0.50023	329	0.86514	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1473.98	35	chr1	52393719	.	G	A	1473.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.05;DP=782;ExcessHet=0.0000;FS=1.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.231;SOR=0.933	GT:AD:DP:GQ:PL	0/1:44,51:95:99:1488,0,1161	20	0	1	0
chr1	52488985	52488985	G	A	exonic	TUT4	.	nonsynonymous SNV	TUT4:NM_001009881:exon9:c.C1439T:p.T480I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.965	D	0.000	D	1.000	D	2.935	M	1.16	T	-0.381	T	0.288	T	0.908	4.920	28.4	5.51	2.589	9.476	18.995	0.735	0.0205855027564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.79e-06	4.788e-06	6.808e-06	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.996	0.68779	D	0.874	0.62049	P	0.000000	0.84330	D	0.048360	0.99994	0.51968	D	2.28	0.64929	M	1.16	0.38073	T	-4.43	0.79316	D	0.914	0.96758	-0.3811	0.72617	T	0.288	0.65968	T	10	0.8445309	0.83615	D	0.020586	0.43215	T	0.735	0.90764	0.549	0.66436	0.579110393632	0.57581	0.8094175587795261	0.80896	0.599033245767	0.55049	0.730292916298	0.71549	T	0.468741	0.80255	T	0.286038	0.81827	D	0.173097	0.81594	D	0.995914161205292	0.88308	D	0.964404	0.86792	D	0.8492712	0.87281	0.75514716	0.85529	0.8492712	0.87282	0.75514716	0.85530	-12.981	0.89285	D	.	.	0.991	0.96282	P	.;.;.;.	.;.;.;.	5.130846	0.85864	28.7	0.99922356442543148	0.98852	0.99063	0.90684	D	AEFBI	0.871641	0.79314	D	0.9365666150454	0.93433	12.036	0.90128059646785	0.95627	13.80685	0.999999999811045	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	9.602000	0.97623	11.817000	0.97118	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.995	0.92787	278	0.89047	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	564.98	36	chr1	52488985	.	G	A	564.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.30;DP=744;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.91;ReadPosRankSum=0.394;SOR=0.641	GT:AD:DP:GQ:PL	0/1:35,22:57:99:579,0,778	20	0	1	0
chr1	55039879	55039879	-	CTGCTG	exonic	PCSK9	.	nonframeshift insertion	PCSK9:NM_174936:exon1:c.42_43insCTGCTG:p.L23_G24insLL,	Hypercholesterolemia, familial, 3	.	4	1235	252	23	8	306	0.107659	.	.	260592	not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|not_specified|Hypercholesterolemia,_autosomal_dominant,_3|Familial_hypercholesterolemia	MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MedGen:CN169374|MONDO:MONDO:0011369,MedGen:C1863551,OMIM:603776|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0021	.	0.0022	0	0.0071	0	0	0.0043	0	0.0005	0.0009961	154	154602	rs35574083	0.0033	0.0032	0.0033	0.0032	0.0036	0.0032	0.0032	0.0034	0.0033	0.0006	0.0028	0.0083	5.416e-05	0.0041	0.0036	0.0035	0.0036	0.0009	0.0027	0.0027	0.0028	0.0026	0.0037	0.0025	0.0024	0.0029	0.0027	0.0010	0.0132	0.0037	0.0101	0	0.0031	0	0.0032	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	9159.26	78	chr1	55039879	.	A	ACTG,ACTGCTG	9159.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=0.224;DP=1096;ExcessHet=1.7912;FS=0.533;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=20.63;ReadPosRankSum=1.11;SOR=0.729	GT:AD:DP:GQ:PL	0/2:42,0,40:82:99:1552,1680,3393,0,1714,1593	15	0	5	0
chr1	58665499	58665499	G	T	exonic	MYSM1	.	nonsynonymous SNV	MYSM1:NM_001085487:exon17:c.C2164A:p.R722S,	.	YES	430	1089	1	0	2	3	0.000458926	0.9244	0.806	1373732	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.983	D	0.799	P	0.000	D	0.997	D	1.845	L	1.78	T	-1.091	T	0.108	T	0.801	4.237	22.0	5.09	2.650	4.896	12.718	0.114	0.0157992596723	.	.	0.0002	0.0001	0	0	0	4.535e-05	0	0.0011	0.0001423	22	154602	rs200350305	0.0001	0.0001	0.0001	0.0002	0.0012	0.0001	0.0001	0.0010	0.0009	0	0	0	0	0	0	8.554e-05	3.374e-05	0.0012	4.601e-05	4.597e-05	5.141e-05	4.035e-05	0.0004	2.11e-05	1.527e-05	7.287e-05	3.028e-05	2.414e-05	0	0	0	0	0	0	5.88e-05	0	0.0004	0.003	0.68238	D	0.007	0.69154	D	0.983	0.60381	D	0.799	0.58136	P	0.000035	0.55875	D	0.114874	0.997177	0.43684	D	1.59	0.40313	L	1.78	0.25678	T	-2.91	0.60982	D	0.728	0.72925	-1.0907	0.05416	T	0.108	0.39075	T	9	0.29636383	0.47201	T	0.015799	0.36731	T	0.114	0.32008	0.409	0.44395	0.771699156952	0.76960	0.6493140523794516	0.64867	0.409492726219	0.41761	0.444501280785	0.31192	T	0.01742	0.14217	T	-0.221935	0.17730	T	-0.147919	0.59427	T	0.365669786930084	0.27629	T	0.888711	0.61924	D	0.4104537	0.61449	0.38935775	0.63757	0.4104537	0.61450	0.38935775	0.63757	-9.836	0.72924	D	.	.	0.863	0.80791	P	.;.	.;.	5.146092	0.86174	28.8	0.99787807451466648	0.87396	0.87343	0.46853	D	AEFBI	0.420644	0.48738	N	0.633167493886888	0.75284	6.278742	0.626861805392761	0.76896	6.576466	0.99999064165445	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.563494	0.21769	0	.	.	5.09	5.09	0.68647	5.044000	0.64020	11.904000	0.99435	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:0.8357:0.1643	12.718	0.56496	866	0.32446	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1336.98	33	chr1	58665499	.	G	T	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.49;DP=795;ExcessHet=0.0000;FS=1.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.370;SOR=0.885	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1351,0,1148	20	0	1	0
chr1	62598774	62598774	C	T	exonic	ANGPTL3	.	stopgain	ANGPTL3:NM_014495:exon2:c.C574T:p.Q192X,	Hypobetalipoproteinemia, familial, 2, Autosomal recessive	YES	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	4.664	25.7	5.5	2.748	3.708	14.245	.	.	7.7e-05	.	8.372e-06	0	0	0	0	1.522e-05	0	0	3.84e-05	1	26028	rs370511181	6.186e-06	8.209e-06	4.106e-06	8.284e-06	7.232e-06	2.91e-06	2.11e-06	3.11e-06	2.25e-06	0	0	0	0	0	0	7.232e-06	1.664e-05	0	6.577e-06	6.569e-06	1.286e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.058134	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.757	0.75559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550057	0.95802	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.351685	0.97462	37	0.99779285149097274	0.86606	0.90274	0.51321	D	AEFBI	0.373508	0.45875	N	0.973540994581112	0.94872	13.11087	0.820994345531891	0.91215	10.77459	0.995171300382029	0.33988	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	4.328000	0.59040	7.556000	0.60375	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.1491:0.8509:0.0:0.0	14.245	0.65530	802	0.44336	.	.	.	.	.	.	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	0.02381	875.98	33	chr1	62598774	.	C	T	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.112e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.76;ReadPosRankSum=0.067;SOR=0.669	GT:AD:DP:GQ:PL	0/1:59,41:100:99:890,0,1493	20	0	1	0
chr1	77935995	77935995	G	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232C:p.R411T	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3414299	Hypertrophic_cardiomyopathy_2	MONDO:MONDO:0007266,MedGen:C1861864,OMIM:115195	no_classification_provided	not_provided	.	.	.	.	.	.	.	.	0.47	T	0.973	D	0.648	P	0.000	D	1.000	D	1.735	L	0.31	T	-0.963	T	0.154	T	0.348	4.133	21.3	6.03	2.868	6.514	13.716	0.138	0.0164858304763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.56456	D	0.046	0.49120	D	0.973	0.57599	D	0.585	0.50320	P	0.000023	0.55875	D	0.000000	0.905979	0.36288	D	2.015	0.55033	M	0.19	0.60236	T	-1.01	0.29933	N	0.455	0.49237	-0.9629	0.38625	T	0.154	0.48378	T	10	0.34226173	0.51261	T	0.016486	0.37771	T	0.138	0.37187	0.392	0.41606	0.693294191124	0.69065	0.13722819317445287	0.13646	0.192239442232	0.21553	0.485696047544	0.36842	T	0.018272	0.14759	T	-0.0193476	0.48946	T	-0.265568	0.48267	T	0.786236812373274	0.45445	D	0.978102	0.92255	D	0.10524542	0.24882	0.1166717	0.28166	0.10524542	0.24882	0.1166717	0.28165	-6.321	0.50449	T	0.2120513649046057	0.28444	0.679	0.72087	P	.;.	.;.	4.374991	0.67387	25.1	0.9810877380999008	0.38334	0.98337	0.81764	D	AEFBI	0.814499	0.73671	D	0.543291857114929	0.69675	5.390713	0.620374817542519	0.76421	6.487894	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	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	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:20,0,5:25:71:0|1:77935995_G_A:71,131,862,0,731,717:77935995	11	0	4	2
chr1	77935995	77935995	G	A	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232A:p.R411K	Cardiomyopathy, dilated, 1CC, Autosomal dominant;Cardiomyopathy, hypertrophic, 20, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	0.148	B	0.021	B	0.000	D	1.000	D	0.085	N	0.45	T	-1.052	T	0.041	T	0.151	1.673	11.55	6.03	2.868	6.514	13.716	0.094	0.00665660799398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.538	0.06847	T	0.764	0.04571	T	0.091	0.25247	B	0.016	0.17743	B	0.000023	0.55875	D	0.000000	0.606987	0.32587	D	0.975	0.24501	L	0.33	0.58323	T	0.77	0.02558	N	0.142	0.18103	-1.0525	0.13709	T	0.041	0.17488	T	10	0.12635311	0.24020	T	0.006657	0.17585	T	0.094	0.27141	0.272	0.22210	0.520586239559	0.51704	0.08362847643912337	0.08296	0.0483182337376	0.05281	0.503688514233	0.39341	T	0.007706	0.07099	T	-0.128727	0.31703	T	-0.422684	0.30769	T	0.675288915634155	0.39574	D	0.80142	0.44736	T	0.070407756	0.15505	0.08730277	0.20284	0.070407756	0.15505	0.08730277	0.20284	-3.317	0.14523	T	0.06871425045942398	0.02517	0.166	0.36554	B	.;.	.;.	2.462804	0.31732	18.83	0.92583887767275952	0.22042	0.94464	0.61249	D	AEFBI	0.704557	0.66024	D	-0.142333935333806	0.35562	2.044219	0.133413881396926	0.46268	2.875634	0.998533369466999	0.37148	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	6.03	6.03	0.97798	6.641000	0.74179	8.621000	0.77811	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0699:0.0:0.9301:0.0	13.716	0.62178	725	0.54935	.;.	.	.	.	.	.	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	0.2105	335.55	22	chr1	77935995	.	G	C,A	335.55	.	AC=4,4;AF=0.105,0.105;AN=38;BaseQRankSum=-2.969e+00;DP=769;ExcessHet=3.5521;FS=215.270;InbreedingCoeff=-0.2726;MLEAC=4,4;MLEAF=0.105,0.105;MQ=60.00;MQRankSum=0.00;QD=1.09;ReadPosRankSum=0.238;SOR=8.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:20,0,5:25:71:0|1:77935995_G_A:71,131,862,0,731,717:77935995	11	0	4	2
chr1	85158757	85158757	C	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.G3578C:p.S1193T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.132	B	0.031	B	0.000	D	0.857	N	0.695	N	3.03	T	-1.001	T	0.008	T	0.208	2.236	13.43	5.05	1.496	3.035	15.424	0.060	0.00707251258688	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.132	0.27209	B	0.031	0.21939	B	0.000003	0.62929	D	0.141141	0.856995	0.28413	N	2.89	0.83701	M	3.03	0.08898	T	-1.07	0.27876	N	0.197	0.21710	-1.0013	0.29545	T	0.008	0.02926	T	10	0.10845104	0.20189	T	0.007073	0.18731	T	0.060	0.17295	0.133	0.03747	0.115124310173	0.11017	0.1666088604543345	0.16580	0.261245587848	0.28675	0.516227483749	0.41095	T	0.015102	0.12732	T	-0.18471	0.23038	T	-0.503099	0.22027	T	0.930839061737061	0.59580	D	0.288071	0.05188	T	0.4173487	0.61915	0.2945027	0.55481	0.4173487	0.61916	0.2945027	0.55480	-4.469	0.30481	T	.	.	0.083	0.09094	B	.	.	1.981754	0.25175	16.67	0.98157459387076473	0.38747	0.94396	0.61032	D	AEFGBI	0.405519	0.47837	N	-0.0772867669948402	0.38391	2.247741	0.106188889006462	0.44865	2.760029	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4722	3593.29	88	chr1	85158757	.	C	G	3593.29	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-5.110e-01;DP=1833;ExcessHet=25.1139;FS=163.566;InbreedingCoeff=-0.7941;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=0.475;SOR=12.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,27:74:99:0|1:85158755_A_G:188,0,563:85158755	1	0	17	3
chr1	85784291	85784291	G	A	exonic	COL24A1	.	nonsynonymous SNV	COL24A1:NM_001349955:exon49:c.C2035T:p.P679S	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.021	B	0.027	B	0.407	N	0.911	D	0.645	N	-5.05	D	0.140	D	0.763	D	0.134	1.773	11.89	4.45	1.272	2.647	14.000	0.325	0.0519474069836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.761	0.03471	T	0.589	0.08245	T	0.021	0.18474	B	0.008	0.13708	B	0.407392	0.13043	N	0.633514	0.910652	0.36402	D	1.625	0.41611	L	-5.05	0.98611	D	-1.93	0.44852	N	0.47	0.50598	0.140	0.84875	D	0.763	0.91946	D	10	0.15503722	0.29231	T	0.051947	0.64870	D	0.325	0.64725	0.283	0.23961	0.460085558651	0.45632	0.294215204307205	0.29334	0.0764562275565	0.08578	0.317731082439	0.13076	T	0.016144	0.13402	T	0.0358378	0.56496	T	-0.186298	0.55935	T	0.326593238379938	0.26087	T	0.909109	0.67839	D	0.10062337	0.23761	0.13630533	0.32611	0.10062337	0.23761	0.13630533	0.32611	-4.76	0.34121	T	.	.	0.087	0.11124	B	.	.	2.578965	0.33431	19.34	0.84082600453684897	0.15086	0.92792	0.56557	D	AEFI	0.556308	0.56640	D	-0.500993566063277	0.22047	1.174548	-0.288399101535401	0.28480	1.58826	0.730020591430894	0.23033	0.562547	0.31514	0	0.653731	0.59785	0	0.618467	0.43123	0	0.530356	0.10902	0	.	.	5.36	4.45	0.53365	2.730000	0.47007	3.938000	0.40583	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0731:0.0:0.9269:0.0	14.000	0.63944	615	0.66512	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1169.98	39	chr1	85784291	.	G	A	1169.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.361;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=0.045;SOR=0.693	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1184,0,1178	20	0	1	0
chr1	86580219	86580225	ACCTACT	0	exonic	CLCA4	.	.	.	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,296,0,0:296:99:.:.:12391,892,0,12391,892,12391,12391,892,12391,12391	0	12	6	0
chr1	86580225	86580225	-	CCTACT	exonic	CLCA4	.	nonframeshift insertion	CLCA4:NM_012128:exon14:c.2640_2641insCCTACT:p.P887_D888insTP,	.	.	466	116	49	1	890	941	0.180212	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	14600.39	280	chr1	86580219	.	ACCTACT	*,ACCTACTCCTACT,A	14600.39	.	AC=32,2,1;AF=0.762,0.048,0.024;AN=42;BaseQRankSum=-4.420e-01;DP=6355;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=32,2,1;MLEAF=0.762,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=-7.110e-01;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,296,0,0:296:99:.:.:12391,892,0,12391,892,12391,12391,892,12391,12391	0	12	6	0
chr1	89582690	89582690	C	T	exonic	LRRC8B	.	stopgain	LRRC8B:NM_001369817:exon5:c.C40T:p.Q14X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	6.167	37	5.39	2.672	6.035	19.51	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.841e-07	0	1.375e-06	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.495	0.59138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.622132	0.98769	D	0.655873	0.98747	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive;Recessive;Recessive	.;.;.;High;High;High	8.042664	0.97118	37	0.9982691632553391	0.90939	0.98193	0.80412	D	AEFDBI	0.119583	0.23333	N	1.1369466439072	0.98762	19.29158	0.985077651528027	0.98318	17.95582	0.9999999999999	0.74766	0.632932	0.41330	0	0.653731	0.59785	0	0.601832	0.32385	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	6.085000	0.70992	5.978000	0.52118	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	19.51	0.95129	804	0.43891	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	117.98	36	chr1	89582690	.	C	T	117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.004e+00;DP=1066;ExcessHet=0.0000;FS=28.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=3.52;SOR=4.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:89582690_C_T:132,0,2815:89582690	20	0	1	0
chr1	89582691	89582691	A	G	exonic	LRRC8B	.	nonsynonymous SNV	LRRC8B:NM_001369817:exon5:c.A41G:p.Q14R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.991	D	0.982	D	0.000	D	1.000	D	1.965	M	0.92	T	-0.738	T	0.185	T	0.775	4.893	28.1	5.39	2.159	9.273	15.698	0.347	0.026732837426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.016	0.76473	D	0.991	0.64070	D	0.982	0.75477	D	0.000001	0.62929	D	0.000000	0.999987	0.54805	D	2.305	0.65957	M	0.92	0.44461	T	-3.47	0.67824	D	0.7	0.86404	-0.7379	0.58560	T	0.185	0.53361	T	10	0.75890064	0.76194	D	0.026733	0.49612	D	0.347	0.66863	0.606	0.73825	0.382607109125	0.37878	0.8199748331590976	0.81954	0.69715142685	0.60882	0.706025004387	0.68017	T	0.07855	0.35917	T	0.102253	0.64536	D	-0.0908965	0.64094	T	0.985106945037842	0.76198	D	0.860814	0.55431	D	0.4747601	0.65582	0.50558585	0.71424	0.4747601	0.65582	0.50558585	0.71424	-5.152	0.38450	T	.	.	0.212	0.50054	B	.;.;.;.;.;.	.;.;.;.;.;.	4.445928	0.69071	25.3	0.99849235027173289	0.92838	0.99139	0.91801	D	AEFDBI	0.885036	0.81521	D	0.794938084968752	0.85789	8.681816	0.778358753137728	0.88251	9.512703	0.999999999571855	0.74766	0.632932	0.41330	0	0.653731	0.59785	0	0.601832	0.32385	0	0.635551	0.53088	0	.	.	5.39	5.39	0.77615	7.240000	0.77644	11.230000	0.90066	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	1.0:0.0:0.0:0.0	15.698	0.77274	804	0.43891	LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region;LRRC8, pannexin-like TM region	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	117.98	36	chr1	89582691	.	A	G	117.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.141e+00;DP=1021;ExcessHet=0.0000;FS=28.679;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=3.43;SOR=4.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,18:101:99:0|1:89582690_C_T:132,0,2815:89582690	20	0	1	0
chr1	92074652	92074654	CAT	-	exonic	SETSIP	.	nonframeshift deletion	SETSIP:NM_001287737:exon1:c.788_790del:p.D263del,	.	.	429	1076	17	0	0	17	0.00783771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025742	67	26028	rs527879752	0.0014	0.0052	0.0013	0.0015	0.0084	0.0014	0.0013	0.0076	0.0073	0.0043	0.0021	0.0083	0.0084	0.0010	0.0070	0.0007	0.0022	0.0030	0.0016	0.0017	0.0017	0.0016	0.0039	0.0015	0.0014	0.0026	0.0021	0.0026	0	0.0012	0.0078	0.0039	0	0	0.0008	0.0029	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1452.94	47	chr1	92074651	.	CCAT	C	1452.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.005e+00;DP=840;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.06;ReadPosRankSum=0.084;SOR=0.712	GT:AD:DP:GQ:PL	0/1:31,38:69:99:1467,0,1120	20	0	1	0
chr1	92074654	92074654	T	C	exonic	SETSIP	.	nonsynonymous SNV	SETSIP:NM_001287737:exon1:c.A788G:p.D263G,	.	.	438	1056	11	0	17	28	0.00518135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00658946	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs115437630	0.0090	0.0088	0.0088	0.0092	0.0177	0.0089	0.0088	0.0143	0.0131	0.0026	0.0095	0.0173	5.402e-05	0.0012	0.0177	0.0097	0.0097	0.0080	0.0063	0.0064	0.0060	0.0067	0.0155	0.0060	0.0059	0.0138	0.0132	0.0015	0	0.0155	0.0167	0	0.0003	0.0272	0.0077	0.0154	0.0088	.	.	.	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	0.05670	.	.	.	.	.	.	.	0.004269868	0.00086	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.015321900822497066	0.01488	.	.	.	.	.	0.023791	0.18095	T	-0.6197	0.00110	T	-0.652544	0.08776	T	.	.	.	0.256074	0.03980	T	0.12479316	0.29272	0.31616184	0.57598	0.12479316	0.29272	0.31616184	0.57597	-5.569	0.42508	T	.	.	0.092	0.14888	B	.;.	.;.	1.565202	0.20044	14.56	0.50367695279588387	0.04372	0.21124	0.21290	N	AEFI	.	.	.	.	.	.	.	.	.	1.64582801883009E-6	0.01202	0.053691	0.00478	0	0.060609	0.00678	0	0.060301	0.00762	0	0.057018	0.00518	0	0.0889061	0.20082	.	.	.	0.114000	0.15353	0.115000	0.14837	0.131000	0.17656	0.985000	0.35982	0.070000	0.22201	0.115000	0.18958	.	.	.	853	0.34956	.;.	.	.	.	.	.	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	0.04762	1147.06	47	chr1	92074654	.	T	C,*	1147.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.040e-01;DP=922;ExcessHet=0.1072;FS=4.578;InbreedingCoeff=-0.0501;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.284;SOR=0.664	GT:AD:DP:GQ:PL	0/2:31,0,38:69:99:1467,1560,2795,0,1234,1120	19	0	1	0
chr1	92074654	92074654	T	0	exonic	SETSIP	.	.	.	.	.	438	1056	11	0	17	28	0.00518135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1147.06	47	chr1	92074654	.	T	C,*	1147.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-2.040e-01;DP=922;ExcessHet=0.1072;FS=4.578;InbreedingCoeff=-0.0501;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=6.67;ReadPosRankSum=0.284;SOR=0.664	GT:AD:DP:GQ:PL	0/2:31,0,38:69:99:1467,1560,2795,0,1234,1120	19	0	1	0
chr1	92291432	92291432	C	T	exonic	GLMN	.	nonsynonymous SNV	GLMN:NM_001319683:exon4:c.G271A:p.D91N	Glomuvenous malformations, Autosomal dominant	.	2	1456	62	2	0	66	0.0221625	.	.	281879	not_specified|Glomuvenous_malformation|not_provided|GLMN-related_disorder	MedGen:CN169374|MONDO:MONDO:0007672,MedGen:C1841984,OMIM:138000,Orphanet:83454|MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.67	T	0.936	P	0.74	P	0.004	N	0.995	D	1.445	L	0.99	T	-1.046	T	0.071	T	0.107	2.182	13.25	4.93	1.420	1.408	9.76	0.107	.	0.0014	0.00399361	0.0043	0.0007	0.0023	0	0.0006	0.0026	0.01	0.0185	0.0037645	582	154602	rs144577963	0.0024	0.0025	0.0018	0.0031	0.0196	0.0024	0.0023	0.0188	0.0185	0.0008	0.0016	0.0115	5.062e-05	0.0003	0.0167	0.0010	0.0041	0.0196	0.0017	0.0017	0.0016	0.0018	0.0180	0.0015	0.0015	0.0150	0.0138	0.0007	0	0.0016	0.0112	0	9.439e-05	0.0136	0.0010	0.0033	0.0180	0.59	0.05808	T	0.626	0.07292	T	0.92	0.51019	P	0.652	0.52532	P	0.004104	0.34102	N	0.361905	0.995118	0.42550	D	1.27	0.32069	L	0.99	0.41750	T	0.1	0.05810	N	0.206	0.22870	-1.0460	0.15534	T	0.071	0.28969	T	10	0.007840723	0.00178	T	.	.	.	0.107	0.30369	.	.	0.741568591866	0.73925	0.12471307705419836	0.12397	0.140332092331	0.15827	0.491998851299	0.37715	T	0.006118	0.05559	T	-0.573299	0.00211	T	-0.580685	0.14484	T	0.0164571894811833	0.00411	T	0.782822	0.41925	T	0.08475475	0.19631	0.06132504	0.11821	0.08909026	0.20803	0.059703197	0.11248	-4.169	0.26301	T	0.16518105712076733	0.20460	0.099	0.16670	B	.	.	3.129037	0.42274	21.5	0.9978606915748448	0.87219	0.61917	0.31625	D	AEFDGBHCI	0.140246	0.26209	N	0.126214685035754	0.47687	2.991044	0.138291058977657	0.46526	2.89707	0.999371870790072	0.39355	0.656854	0.48797	0	0.382747	0.06278	2	0.67347	0.61138	0	0.636	0.56748	0	.	.	5.86	4.93	0.64394	1.528000	0.35592	4.928000	0.46104	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.7861:0.138:0.0759	9.76	0.39694	590	0.68897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1397.98	41	chr1	92291432	.	C	T	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=814;ExcessHet=0.0000;FS=3.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.049e+00;SOR=1.115	GT:AD:DP:GQ:PL	0/1:55,55:110:99:1412,0,1218	20	0	1	0
chr1	93136807	93136807	G	A	exonic	MTF2	.	nonsynonymous SNV	MTF2:NM_001164393:exon13:c.G1256A:p.G419D	.	.	425	1076	18	3	0	24	0.0110294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	0.000	D	0.999	D	0.55	N	1.96	T	-1.050	T	0.028	T	0.433	3.067	16.24	5.9	2.806	4.112	20.282	0.120	0.00401574286492	0.0008	0.00199681	0.0015	0.0002	0.0003	0	0.0002	0.0010	0	0.0061	0.0013713	212	154602	rs141738080	0.0015	0.0015	0.0013	0.0017	0.0069	0.0015	0.0014	0.0065	0.0063	0.0004	0.0003	0.0009	0	7.488e-05	0.0050	0.0013	0.0016	0.0069	0.0009	0.0009	0.0010	0.0009	0.0070	0.0008	0.0008	0.0052	0.0045	0.0002	0	0.0007	0.0009	0	0	0.0068	0.0012	0.0014	0.0070	0.308	0.26852	T	0.587	0.09175	T	0.0	0.02946	B	0.0	0.01387	B	0.000075	0.52346	D	0.176990	0.998587	0.45122	D	0	0.06538	N	1.54	0.30133	T	-0.72	0.27669	N	0.138	0.17553	-1.0501	0.14369	T	0.028	0.12103	T	10	0.004812598	0.00102	T	0.004016	0.09525	T	0.120	0.33359	.	.	0.316310170894	0.31242	0.2567057432622529	0.25584	0.377117936334	0.39146	0.604843616486	0.53588	T	0.136939	0.46959	T	-0.477519	0.00765	T	-0.455949	0.27042	T	0.0221687447915002	0.00928	T	0.815518	0.47040	T	0.18423568	0.39729	0.49373773	0.70718	0.18423568	0.39728	0.49373773	0.70719	-2.069	0.03453	T	.	.	0.096	0.15206	B	.;.;.;.	.;.;.;.	3.032618	0.40627	21.2	0.99292407325838206	0.58326	0.89745	0.50409	D	AEFBCI	0.418078	0.48586	N	-0.0993309928434743	0.37421	2.176927	0.147080332813538	0.46987	2.935897	0.999109479316504	0.38452	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.107000	0.50021	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.282	0.98522	388	0.83355	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4782.68	141	chr1	93136807	.	G	A	4782.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.544;DP=1187;ExcessHet=0.3300;FS=1.108;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.244;SOR=0.817	GT:AD:DP:GQ:PL	0/1:88,68:156:99:1794,0,2311	18	0	3	0
chr1	93239851	93239851	T	G	exonic	CCDC18	.	stopgain	CCDC18:NM_001306076:exon21:c.T2933G:p.L978X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.975	T	0.100	T	.	5.137	32	5.73	2.174	4.295	16.019	0.151	.	.	.	8.314e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs764868486	3.423e-06	3.42e-06	5.45e-06	1.376e-06	4.499e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.499e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.018426	0.27485	N	0.291167	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.457	0.49420	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.468487	0.93276	D	0.435172	0.93191	D	0.994761526584625	0.86260	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	8.377605	0.97493	37	0.99169982792758415	0.54355	0.86003	0.45206	D	AEFBCI	0.682655	0.64560	D	0.964087512073847	0.94527	12.82842	0.790583216188882	0.89132	9.850697	0.868090131995479	0.25359	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.528226	0.09195	0	.	.	5.73	5.73	0.89730	4.290000	0.58812	.	.	0.665000	0.62972	0.979000	0.35152	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.019	0.80268	436	0.80373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	30.81	31	chr1	93239851	.	T	G	30.81	.	AC=1;AF=0.167;AN=6;BaseQRankSum=-1.500e-02;DP=753;ExcessHet=0.0000;FS=139.025;InbreedingCoeff=-0.2601;MLEAC=3;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=0.60;ReadPosRankSum=0.373;SOR=6.089	GT:AD:DP:GQ:PL	0/1:45,6:51:30:30,0,948	2	0	1	18
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H	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	.	.	.	.	.	.	.	.	0.52	T	0.913	P	0.503	P	0.002	N	0.999	D	1.525	L	1.57	T	-1.113	T	0.049	T	0.261	3.205	16.73	5.8	2.216	7.642	16.134	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4048	7236.94	34	chr1	99884396	.	T	C	7236.94	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-4.178e+00;DP=2325;ExcessHet=25.1139;FS=198.804;InbreedingCoeff=-0.6802;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=3.71;ReadPosRankSum=1.56;SOR=12.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,35:105:99:0|1:99884396_T_C:893,0,2450:99884396	4	0	17	0
chr1	103533845	103533845	-	A	exonic	RNPC3	.	frameshift insertion	RNPC3:NM_017619:exon3:c.347dupA:p.R120Kfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	229.63	54	chr1	103533844	.	GA	G,GAA	229.63	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-4.500e-01;DP=1214;ExcessHet=1.1607;FS=2.736;InbreedingCoeff=-0.1291;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=-4.790e-01;SOR=0.413	GT:AD:DP:GQ:PL	0/1:36,5,0:41:16:16,0,1116,124,1131,1255	16	0	4	0
chr1	108139130	108139130	C	A	exonic	SLC25A24	.	nonsynonymous SNV	SLC25A24:NM_013386:exon9:c.G1177T:p.A393S	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.235	B	0.1	B	0.000	D	1.000	D	1.195	L	-1.37	T	-0.900	T	0.179	T	0.265	3.148	16.53	1.35	0.446	4.865	6.560	0.197	0.0180975617841	.	0.000399361	0.0002	0	0	0	0	1.5e-05	0	0.0013	0.0001617	25	154602	rs568557298	9.938e-05	0.0001	7.91e-05	0.0001	0.0013	8.595e-05	8.063e-05	0.0011	0.0011	0	0	0	0	0	0	2.521e-05	3.316e-05	0.0013	5.909e-05	5.906e-05	2.569e-05	9.4e-05	0.0019	3.075e-05	2.208e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.117	0.28271	T	0.1	0.38742	T	0.235	0.30743	B	0.1	0.30674	B	0.000000	0.84330	D	0.046258	0.656081	0.30490	N	0.965	0.23975	L	-1.37	0.80214	T	-0.18	0.09796	N	0.447	0.49602	-0.8997	0.48024	T	0.179	0.52536	T	10	0.03696853	0.02024	T	0.018098	0.40048	T	0.197	0.47942	0.544	0.65731	0.60361576897	0.60044	0.6255096625427284	0.62483	0.385891351295	0.39878	0.418022334576	0.27566	T	0.098855	0.40309	T	-0.305577	0.08143	T	-0.262158	0.48607	T	0.136920623170967	0.16007	T	.	.	.	0.09594263	0.22589	0.08380006	0.19230	0.09594263	0.22588	0.08380006	0.19230	-7.834	0.64996	D	.	.	0.218	0.48561	B	.;.	.;.	3.384219	0.46828	22.4	0.98859507122832613	0.47442	0.95114	0.63489	D	AEFBI	0.481515	0.52277	N	-0.229970386662146	0.31909	1.794071	-0.144948311967637	0.33602	1.923892	0.0125789609369952	0.12346	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.5	1.35	0.21078	5.045000	0.64027	2.716000	0.34274	0.597000	0.34315	1.000000	0.71638	0.994000	0.32194	0.994000	0.71098	0.0:0.4854:0.0:0.5146	6.560	0.21678	613	0.66686	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2625.98	39	chr1	108139130	.	C	A	2625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.132e+00;DP=958;ExcessHet=0.0000;FS=11.413;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=-1.880e-01;SOR=0.289	GT:AD:DP:GQ:PL	0/1:80,107:187:99:2640,0,2129	20	0	1	0
chr1	109250116	109250116	-	CGC	exonic	CELSR2	.	nonframeshift insertion	CELSR2:NM_001408:exon1:c.37_38insCGC:p.P16_L17insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:22,28,0:50:99:1054,0,773,1120,857,1977	1	11	8	0
chr1	109250114	109250116	CGC	-	exonic	CELSR2	.	nonframeshift deletion	CELSR2:NM_001408:exon1:c.35_37del:p.P16del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.599e-06	3.557e-05	7.286e-06	5.903e-06	3.316e-05	3.11e-06	2.25e-06	8.9e-07	6e-07	3.316e-05	0	0	2.792e-05	0	0	3.793e-06	3.555e-05	1.259e-05	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7381	28794.1	33	chr1	109250113	.	ACGC	ACGCCGC,A	28794.1	.	AC=31,1;AF=0.738,0.024;AN=42;BaseQRankSum=0.990;DP=1066;ExcessHet=1.5138;FS=0.708;InbreedingCoeff=-0.0500;MLEAC=31,1;MLEAF=0.738,0.024;MQ=60.00;MQRankSum=0.00;QD=30.86;ReadPosRankSum=-5.290e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:22,28,0:50:99:1054,0,773,1120,857,1977	1	11	8	0
chr1	109273244	109273244	C	T	exonic	CELSR2	.	nonsynonymous SNV	CELSR2:NM_001408:exon32:c.C8417T:p.A2806V,	.	.	416	1098	8	0	0	8	0.00362976	.	.	1643650	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.32	T	-1.021	T	0.046	T	0.07	0.182	4.981	-0.074	0.089	-0.721	6.207	0.095	.	7.7e-05	0.0155751	0.0097	0	0.0004	0.0448	0.0189	0.0020	0.0112	0.0319	0.0083246	1287	154602	rs77619489	0.0041	0.0041	0.0036	0.0047	0.0499	0.0040	0.0040	0.0480	0.0473	0	0.0003	0	0.0499	0.0174	0.0005	0.0003	0.0054	0.0288	0.0040	0.0041	0.0026	0.0055	0.0409	0.0038	0.0037	0.0364	0.0347	4.813e-05	0	0.0003	0	0.0409	0.0187	0	0.0004	0.0024	0.0344	0.134	0.26300	T	0.265	0.22694	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	-0.32	0.68181	T	-1.02	0.26843	N	0.165	0.17416	-1.0208	0.23454	T	0.046	0.19879	T	9	0.0025497675	0.00039	T	.	.	.	0.095	0.27398	.	.	0.404793603054	0.40094	0.13638536455219502	0.13562	0.385191563647	0.39810	0.373368829489	0.21314	T	0.121821	0.44506	T	-0.573971	0.00210	T	-0.565111	0.15900	T	0.0101433273382964	0.00137	T	0.791621	0.43272	T	0.05638287	0.11086	0.057821013	0.10579	0.05638287	0.11085	0.057821013	0.10579	-4.43	0.29961	T	.	.	0.069	0.02993	B	.	.	0.776055	0.11463	8.066	0.97307226243689204	0.33308	0.08074	0.14046	N	AEFDGBHCI	0.053422	0.09624	N	-1.08910173565791	0.06843	0.3161741	-1.08328659265427	0.08029	0.3930309	0.999999996477647	0.74766	0.718356	0.82227	0	0.573888	0.26702	0	0.570548	0.19454	0	0.604944	0.38103	0	.	.	4.51	-0.0736	0.13067	-0.492000	0.06547	-1.092000	0.06355	0.522000	0.23927	0.000000	0.06391	0.000000	0.08366	0.518000	0.29429	0.0:0.5473:0.2824:0.1703	6.207	0.19821	679	0.60090	.	.	.	.	.	rs77619489	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	0.02381	954.98	37	chr1	109273244	.	C	T	954.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.980e-01;DP=929;ExcessHet=0.0000;FS=1.814;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.585;SOR=0.745	GT:AD:DP:GQ:PL	0/1:43,39:82:99:969,0,1101	20	0	1	0
chr1	109508616	109508616	G	C	exonic	AMIGO1	.	nonsynonymous SNV	AMIGO1:NM_020703:exon2:c.C297G:p.N99K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.375	B	0.25	B	0.024	N	0.989	D	-0.01	N	4.38	T	-0.907	T	0.002	T	0.107	1.805	12.00	1.09	0.047	0.976	9.065	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	1579.24	62	chr1	109508616	.	G	C	1579.24	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.065e+00;DP=1797;ExcessHet=2.5830;FS=184.263;InbreedingCoeff=-0.2692;MLEAC=8;MLEAF=0.222;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.17;SOR=8.429	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,11:80:30:0|1:109508616_G_C:30,0,2536:109508616	11	0	7	3
chr1	112913901	112913901	C	G	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493C:p.S498T	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.019	B	0.006	B	0.000	N	1.000	D	0.55	N	1.89	T	-0.961	T	0.016	T	0.249	0.420	6.281	2.7	0.841	0.795	6.367	0.050	0.00694427549183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.514e-05	0.0014	1.781e-05	1.244e-05	1.721e-05	9.91e-06	8.47e-06	1.101e-05	8.87e-06	0	0	0	0	0	0	1.721e-05	3.328e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.406	0.10278	T	0.345	0.17750	T	0.019	0.17989	B	0.006	0.12133	B	0.000194	0.00507	N	3.613670	0.514651	0.31619	N	0.55	0.14455	N	1.89	0.23688	T	0.05	0.06369	N	0.31	0.34981	-0.9605	0.39087	T	0.016	0.06377	T	10	0.06500685	0.08706	T	0.006944	0.18374	T	0.050	0.13987	0.136	0.04008	0.206203607746	0.20212	0.25754088764728017	0.25668	0.358157990037	0.37530	0.395360171795	0.24422	T	0.083635	0.37098	T	-0.185342	0.22944	T	-0.504008	0.21933	T	0.148207157850266	0.16960	T	.	.	.	0.09177888	0.21514	0.055201277	0.09640	0.09177888	0.21514	0.055201277	0.09639	-2.577	0.06330	T	.	.	0.073	0.04558	B	.;.	.;.	1.617359	0.20662	14.85	0.80462772014093309	0.13214	0.95587	0.65318	D	AEFBI	0.400058	0.47510	N	-0.522399086346691	0.21356	1.132814	-0.357056128764837	0.26292	1.451256	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:86,15,0:101:96:96,0,1868,343,1910,2253	12	0	8	0
chr1	112913901	112913901	C	T	exonic	SLC16A1	.	nonsynonymous SNV	SLC16A1:NM_001166496:exon5:c.G1493A:p.S498N	Erythrocyte lactate transporter defect, Autosomal dominant;Hyperinsulinemic hypoglycemia, familial, 7, Autosomal dominant;Monocarboxylate transporter 1 deficiency, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.626	P	0.219	B	0.000	N	1.000	D	0.55	N	1.87	T	-1.064	T	0.021	T	0.104	1.964	12.53	2.7	0.841	0.795	6.367	0.041	0.0129096832338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.114	0.36765	T	0.626	0.40074	P	0.219	0.37734	B	0.000194	0.00507	N	3.613670	0.542923	0.32069	D	0.55	0.14455	N	1.87	0.24085	T	-0.51	0.15986	N	0.234	0.26354	-1.0643	0.10713	T	0.021	0.08686	T	10	0.10610628	0.19646	T	0.01291	0.31889	T	0.041	0.10877	0.121	0.02793	0.200294437569	0.19612	0.24899618109934885	0.24813	0.315069041011	0.33789	0.411491125822	0.26663	T	0.106424	0.41776	T	-0.242444	0.15039	T	-0.58603	0.14011	T	0.547992467880249	0.34402	D	.	.	.	0.096315265	0.22684	0.08850896	0.20641	0.096315265	0.22683	0.08850896	0.20641	-4.187	0.26563	T	.	.	0.102	0.18206	B	.;.	.;.	1.870468	0.23763	16.14	0.98071642327873421	0.38030	0.50322	0.28636	D	AEFBI	0.126630	0.24365	N	-0.162150398385312	0.34719	1.985187	-0.0858474992985718	0.35975	2.087787	0.85627841051563	0.25139	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.94	2.7	0.31007	1.588000	0.36242	0.013000	0.13471	0.599000	0.40250	1.000000	0.71638	0.000000	0.08366	0.972000	0.54974	0.1496:0.6559:0.0:0.1945	6.367	0.20666	822	0.40702	.;.	.	.	.	.	.	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	0.2143	1360.52	107	chr1	112913901	.	C	G,T	1360.52	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.601e+00;DP=1739;ExcessHet=4.7172;FS=69.726;InbreedingCoeff=-0.2738;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.49;ReadPosRankSum=0.901;SOR=9.894	GT:AD:DP:GQ:PL	0/1:86,15,0:101:96:96,0,1868,343,1910,2253	12	0	8	0
chr1	113590590	113590590	G	C	exonic	MAGI3	.	nonsynonymous SNV	MAGI3:NM_001142782:exon5:c.G870C:p.E290D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.63	P	0.217	B	0.000	D	0.643	D	0.49	N	2.69	T	-1.008	T	0.007	T	0.306	-1.899	0.008	-0.268	-0.075	-0.116	11.346	0.122	0.00487564636394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0045	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	2.242e-05	0	5.08e-05	0	0	0.0002	0.0002	7.081e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.03085	T	1.0	0.04079	T	0.069	0.23796	B	0.051	0.25434	B	0.000007	0.62929	D	0.142947	0.643051	0.32894	D	1.54	0.38927	L	2.69	0.14783	T	1.32	0.01107	N	0.162	0.19995	-1.0079	0.27572	T	0.007	0.02399	T	10	0.03753224	0.02113	T	0.004876	0.12224	T	0.122	0.33800	0.268	0.21576	0.143184338766	0.13958	0.2702843826030742	0.26941	0.165123761365	0.18624	0.563049614429	0.47698	T	0.039485	0.25206	T	-0.238336	0.15562	T	-0.580129	0.14534	T	0.164513646206508	0.18199	T	0.848015	0.52922	T	0.07584618	0.17116	0.059709318	0.11252	0.07584618	0.17115	0.059709318	0.11251	-8.114	0.61845	D	.	.	0.077	0.06205	B	.;.;.;.	.;.;.;.	2.279428	0.29141	18.03	0.061631012715648595	0.00020	0.49120	0.28361	N	AEFDI	0.108624	0.21602	N	-0.944723580309123	0.09811	0.4660299	-0.857016727595564	0.13119	0.6788146	4.96757964133831E-4	0.07150	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.9	-0.268	0.12295	-0.048000	0.11898	1.843000	0.29202	-0.796000	0.03208	0.834000	0.30193	1.000000	0.68203	0.976000	0.56436	0.5848:0.0:0.4152:0.0	11.346	0.48798	538	0.73119	.;Guanylate kinase/L-type calcium channel beta subunit;.;.	.	.	.	.	.	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	0.25	654.71	83	chr1	113590590	.	G	C	654.71	.	AC=3;AF=0.250;AN=12;BaseQRankSum=0.109;DP=1286;ExcessHet=0.3300;FS=262.934;InbreedingCoeff=-0.3263;MLEAC=5;MLEAF=0.417;MQ=60.00;MQRankSum=0.00;QD=2.09;ReadPosRankSum=1.54;SOR=9.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,19:84:7:.:.:7,0,994	3	0	3	15
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.033	B	0.015	B	0.000	D	0.999	D	-1.545	N	.	.	-0.951	T	0.015	T	0.585	0.535	6.895	5.89	2.787	4.426	15.011	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	6766.73	121	chr1	114732648	.	C	G	6766.73	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.661e+00;DP=3409;ExcessHet=54.0936;FS=245.736;InbreedingCoeff=-0.9995;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.26;ReadPosRankSum=1.31;SOR=12.755	GT:AD:DP:GQ:PL	0/1:64,51:124:99:629,0,835	0	0	21	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.635e-05	0	1.376e-06	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.39575	D	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.59037	T	-1.95	0.45222	N	0.526	0.55540	.	.	.	.	.	.	.	0.42498738	0.57114	T	.	.	.	.	.	.	.	.	.	0.8187195895967326	0.81828	.	.	.	.	.	0.082225	0.36779	T	.	.	.	.	.	.	.	.	.	0.812719	0.46458	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.743	0.77826	P	.;.	.;.	3.961182	0.58095	23.9	.	.	.	.	.	.	0.492730	0.52925	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.132000	0.41706	4.040000	0.41416	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	.	.	.	.	.	.;.	.	.	.	.	.	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	0.381	2354.68	101	chr1	145872713	.	C	G	2354.68	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.628e+00;DP=2761;ExcessHet=20.9642;FS=143.279;InbreedingCoeff=-0.5874;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.894;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,34:117:99:0|1:145872713_C_G:349,0,2448:145872713	5	0	16	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.069	0.43913	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.57419	T	-1.48	0.36189	N	0.138	0.13626	.	.	.	.	.	.	.	0.13870499	0.26377	T	.	.	.	.	.	.	.	.	.	0.4799690801717402	0.47916	.	.	.	.	.	0.054385	0.29709	T	.	.	.	.	.	.	.	.	.	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.42763	B	.;.	.;.	3.406129	0.47225	22.4	.	.	.	.	.	.	0.196541	0.32351	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.344000	0.19703	1.359000	0.25866	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	.	.	.	.	.	.;.	.	.	.	.	.	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	0.35	2100.21	101	chr1	145872714	.	C	G	2100.21	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-4.135e+00;DP=2664;ExcessHet=14.4320;FS=138.726;InbreedingCoeff=-0.4963;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=1.14;ReadPosRankSum=0.919;SOR=11.988	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,34:117:99:0|1:145872713_C_G:349,0,2448:145872713	6	0	14	1
chr1	146989704	146989704	G	A	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon31:c.G3529A:p.V1177I,	.	.	389	1129	4	0	0	4	0.00176835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	3.28	T	-0.931	T	0.004	T	0.091	-0.239	2.848	-1.38	-2.667	-1.741	.	0.004	0.000284494916674	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270043945	7.862e-05	0.0025	7.825e-05	7.9e-05	0.0002	6.654e-05	6.192e-05	7.377e-05	6.782e-05	2.998e-05	9.009e-05	0	0	0	0.0002	8.802e-05	0.0001	5.841e-05	0.0001	0.0023	0.0001	0.0001	0.0008	8.205e-05	6.755e-05	0.0005	0.0004	0.0001	0	0.0008	0	0	0	0	1.48e-05	0.0005	0	.	.	.	0.861	0.03399	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.053	0.02462	-0.9116	0.46657	T	0.003	0.00800	T	5	0.030879498	0.01217	T	4.39E-4	0.00099	T	.	.	.	.	0.0762999501168	0.06990	0.003494523934374631	0.00326	.	.	.	.	.	.	.	.	-0.290573	0.09580	T	-0.655165	0.08596	T	0.0625777323322281	0.07570	T	0.688631	0.29780	T	0.0542734	0.10388	0.078761145	0.17669	0.0542734	0.10388	0.078761145	0.17669	-8.585	0.64990	D	.	.	0.087	0.11124	B	.;.	.;.	-0.762112	0.01183	0.057	0.37633601480905915	0.02491	0.00087	0.00582	N	AEFI	0.020780	0.00855	N	-1.28669577664722	0.03834	0.1720164	-1.52809802913857	0.02130	0.09752339	5.886563974192E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.564	-1.13	0.09274	-2.893000	0.00776	-10.943000	0.00650	0.061000	0.17545	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	.	.	.	783	0.47268	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|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1158.98	93	chr1	146989704	.	G	A	1158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.66;DP=5468;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.49;MQRankSum=-8.870e-01;QD=1.63;ReadPosRankSum=0.012;SOR=0.639	GT:AD:DP:GQ:PL	0/1:603,109:712:99:1173,0,15525	20	0	1	0
chr1	148557506	148557506	T	C	exonic	NBPF14	.	nonsynonymous SNV	NBPF14:NM_015383:exon35:c.A4484G:p.D1495G,	.	.	501	1018	2	1	0	4	0.00196078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219983187	0.0004	0.0007	0.0004	0.0004	0.0103	0.0004	0.0004	0.0093	0.0090	6.989e-05	0.0001	0	0.0103	0	0	5.239e-05	0.0003	0.0005	0.0004	0.0009	0.0003	0.0004	0.0099	0.0003	0.0002	0.0074	0.0066	0.0001	0	7.914e-05	0	0.0099	0	0	1.582e-05	0	0.0003	.	.	.	0.512	0.12668	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.11197	.	.	.	.	.	.	.	0.08087933	0.13179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557644	0.23352	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.10545	B	.;.	.;.	0.134461	0.05294	1.789	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.738000	0.25826	-4.838000	0.01963	0.319000	0.19345	0.028000	0.20300	0.000000	0.08366	0.006000	0.07323	.	.	.	929	0.16858	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|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05882	2214.28	39	chr1	148557506	.	T	C	2214.28	.	AC=2;AF=0.059;AN=34;DP=616;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.059;MQ=39.32;QD=29.92;SOR=1.547	GT:AD:DP:GQ:PL	1/1:0,74:74:99:2239,222,0	16	1	0	4
chr1	149075685	149075685	C	A	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon7:c.G958T:p.G320C	.	.	409	361	749	3	0	755	0.511171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	.	.	.	.	.	.	1.000	N	.	.	4.24	T	-0.912	T	0.002	T	0.328	-0.960	0.324	0.43	-1.589	-0.069	.	0.049	.	.	.	5.909e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs1385733241	9.61e-06	5.749e-05	1.23e-05	6.897e-06	2.519e-05	5.58e-06	4.36e-06	4.56e-06	3.33e-06	0	0	3.836e-05	2.519e-05	0	0	9.021e-06	3.323e-05	0	1.317e-05	3.942e-05	2.575e-05	0	2.946e-05	2.19e-06	8.2e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.946e-05	0	0	.	.	.	0.365	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.21580	.	.	.	.	.	.	.	0.12383446	0.23512	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.811819	0.46320	T	.	.	.	.	.	.	.	.	-4.7	0.44930	T	.	.	0.071	0.39220	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.560151	0.09286	6.069	.	.	.	.	.	.	0.017031	0.00420	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.056000	0.11744	0.032000	0.13746	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	889	0.27310	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.4762	30341.43	581	chr1	149075685	.	C	A	30341.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.56;DP=9689;ExcessHet=43.6797;FS=6.799;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.24;MQRankSum=-6.707e+00;QD=3.24;ReadPosRankSum=-1.735e+00;SOR=1.328	GT:AD:DP:GQ:PL	0/1:356,187:543:99:4129,0,9337	1	0	20	0
chr1	150706554	150706554	C	T	exonic	HORMAD1	.	nonsynonymous SNV	HORMAD1:NM_001199829:exon9:c.G782A:p.S261N	.	.	591	924	5	2	0	9	0.00484653	0.0001	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.0	B	0.001	B	0.259	N	1.000	N	0	N	1.6	T	-0.952	T	0.013	T	0.021	-1.184	0.081	-5.53	-1.041	-0.290	10.068	0.025	0.00450385123194	0.0003	0.00159744	0.0010	0.0008	0.0007	0	0	0.0010	0.0089	0.0022	0.0009056	140	154602	rs149020192	0.0007	0.0007	0.0006	0.0008	0.0088	0.0007	0.0006	0.0068	0.0061	0.0006	0.0012	7.712e-05	0	1.921e-05	0.0088	0.0005	0.0016	0.0026	0.0007	0.0008	0.0008	0.0007	0.0033	0.0006	0.0006	0.0021	0.0017	0.0005	0	0.0013	0	0	0	0.0340	0.0006	0.0033	0.0033	0.515	0.07378	T	0.577	0.10103	T	0.0	0.02946	B	0.001	0.04355	B	0.258990	0.15353	N	0.678460	0.999999	0.08975	N	0.36	0.11994	N	1.01	0.41058	T	0.03	0.08495	N	0.062	0.05287	-0.9516	0.40695	T	0.013	0.05273	T	10	0.007304102	0.00166	T	0.004504	0.11063	T	0.025	0.05312	.	.	0.235038932564	0.23097	0.09451566349133236	0.09383	0.119560859201	0.13463	0.323727190495	0.13985	T	0.014143	0.12098	T	-0.72865	0.00024	T	-0.82498	0.01354	T	0.00247882736297853	0.00026	T	0.532847	0.17735	T	0.031866193	0.03105	0.052296355	0.08589	0.031866193	0.03104	0.052296355	0.08588	-3.925	0.26519	T	.	.	0.069	0.03026	B	.;.;.	.;.;.	-1.054777	0.00696	0.020	0.43860755840812143	0.03332	0.01767	0.05549	N	AEFGBI	0.050529	0.08839	N	-1.52745570243576	0.01671	0.07310425	-1.51866549298974	0.02201	0.1008501	0.114593385565486	0.16736	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.19	-5.53	0.02351	-0.356000	0.07711	-0.927000	0.06897	-0.919000	0.02208	0.010000	0.18352	0.002000	0.18203	0.033000	0.13494	0.0:0.2965:0.0998:0.6036	10.068	0.41486	72	0.96948	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4360.08	37	chr1	150706554	.	C	T	4360.08	.	AC=2;AF=0.048;AN=42;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.23;SOR=1.321	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,99:99:99:1|1:150706554_C_T:4388,298,0:150706554	20	1	0	0
chr1	152214827	152214827	A	0	exonic	HRNR	.	.	.	.	.	441	898	8	0	175	183	0.00443459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	1186.66	278	chr1	152214827	.	A	C,*	1186.66	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.86;DP=4621;ExcessHet=11.8493;FS=40.936;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.91;MQRankSum=2.09;QD=0.32;ReadPosRankSum=-5.707e+00;SOR=11.070	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:385,0,37:422:99:0|1:152214821_T_A:315,1474,17495,0,16021,15910:152214821	8	0	3	0
chr1	152214830	152214830	C	0	exonic	HRNR	.	.	.	.	.	441	924	156	0	1	157	0.0778443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	998.62	267	chr1	152214830	.	C	CATGTTGGCCACAG,*	998.62	.	AC=3,10;AF=0.071,0.238;AN=42;BaseQRankSum=4.04;DP=4604;ExcessHet=11.8493;FS=41.163;InbreedingCoeff=-0.4483;MLEAC=3,10;MLEAF=0.071,0.238;MQ=27.81;MQRankSum=1.90;QD=0.27;ReadPosRankSum=-5.805e+00;SOR=11.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:385,0,37:422:99:0|1:152214821_T_A:315,1474,17495,0,16021,15910:152214821	8	0	3	0
chr1	152217781	152217781	A	G	exonic	HRNR	.	nonsynonymous SNV	HRNR:NM_001009931:exon3:c.T3848C:p.V1283A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.0	B	0.0	B	.	.	1.000	N	0	N	4.73	T	-0.962	T	0.001	T	0.078	1.870	12.21	0.799	-0.194	-0.826	0.621	0.038	0.00156930846409	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442287419	0.0029	0.0095	0.0028	0.0030	0.0047	0.0028	0.0028	0.0031	0.0030	0.0006	0.0012	0.0020	0.0022	0.0067	0.0047	0.0031	0.0029	0.0035	0	0.0027	0	0	.	0	0	.	.	0	.	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.992	0.02353	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.73	0.01620	T	0.7	0.02163	N	0.03	0.00717	-0.9616	0.38877	T	0.001	0.00255	T	9	0.029268175	0.01054	T	0.001569	0.02497	T	0.038	0.09825	.	.	0.134241683229	0.13084	0.04609718830454687	0.04553	.	.	0.565197229385	0.48000	T	0.016156	0.13408	T	-0.395685	0.02471	T	-0.806151	0.01753	T	0.0454965832227297	0.04692	T	0.0984901	0.00732	T	0.015719363	0.00154	0.033182845	0.02172	0.015719363	0.00153	0.033182845	0.02171	-4.809	0.34696	T	.	.	0.107	0.20038	B	.	.	0.386570	0.07583	4.240	0.68866433575881314	0.08791	0.00701	0.02979	N	AEFI	0.017628	0.00475	N	-1.64764876302481	0.01045	0.04533176	-1.64771040346924	0.01388	0.06270139	1.24053570321182E-5	0.02871	0.553676	0.25195	0	0.547309	0.14657	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.77	0.799	0.17810	-0.650000	0.05477	.	.	-0.442000	0.05168	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.198:0.3712:0.1932:0.2377	0.621	0.00727	569	0.70546	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02941	56.15	6	chr1	152217781	.	A	G	56.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.440e+00;DP=253;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.0436;MLEAC=1;MLEAF=0.029;MQ=28.21;MQRankSum=0.00;QD=9.36;ReadPosRankSum=0.253;SOR=0.693	GT:AD:DP:GQ:PL	0/1:3,3:6:68:68,0,68	16	0	1	4
chr1	152910506	152910506	C	0	exonic	IVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	10818.93	25	chr1	152910506	.	C	CAGCAGCAGGAGGGGCAGCTGGAGCTCTCTG,G,*	10818.93	.	AC=18,2,2;AF=0.474,0.053,0.053;AN=38;BaseQRankSum=-2.960e-01;DP=998;ExcessHet=1.5433;FS=1.193;InbreedingCoeff=-0.0466;MLEAC=19,2,2;MLEAF=0.500,0.053,0.053;MQ=55.69;MQRankSum=0.00;QD=23.78;ReadPosRankSum=-1.521e+00;SOR=0.793	GT:AD:DP:GQ:PL	1/1:0,17,0,0:17:47:654,47,0,657,51,661,657,51,661,661	3	4	8	2
chr1	154869726	154869726	-	GCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGC:p.Q80_P81insQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/4:0,0,30,0,15,0,0:47:99:2382,2139,2113,670,655,545,2139,2113,655,2113,1288,1273,0,1273,1202,2139,2113,655,2113,1273,2113,2139,2113,655,2113,1273,2113,2113	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs746397332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/4:0,0,30,0,15,0,0:47:99:2382,2139,2113,670,655,545,2139,2113,655,2113,1288,1273,0,1273,1202,2139,2113,655,2113,1273,2113,2139,2113,655,2113,1273,2113,2113	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/4:0,0,30,0,15,0,0:47:99:2382,2139,2113,670,655,545,2139,2113,655,2113,1288,1273,0,1273,1202,2139,2113,655,2113,1273,2113,2139,2113,655,2113,1273,2113,2113	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGC:p.Q80_P81insQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/4:0,0,30,0,15,0,0:47:99:2382,2139,2113,670,655,545,2139,2113,655,2113,1288,1273,0,1273,1202,2139,2113,655,2113,1273,2113,2139,2113,655,2113,1273,2113,2113	0	1	0	0
chr1	154869726	154869726	-	GCTGCTGCTGCTGCTGCTGCT	exonic	KCNN3	.	nonframeshift insertion	KCNN3:NM_001204087:exon1:c.238_239insAGCAGCAGCAGCAGCAGCAGC:p.Q80_P81insQQQQQQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	42143.75	48	chr1	154869723	.	GGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCTGCT,G	42143.75	.	AC=8,17,5,9,1,1;AF=0.190,0.405,0.119,0.214,0.024,0.024;AN=42;BaseQRankSum=-4.750e-01;DP=1935;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=8,17,5,9,1,1;MLEAF=0.190,0.405,0.119,0.214,0.024,0.024;MQ=59.98;MQRankSum=0.00;QD=31.26;ReadPosRankSum=-6.440e-01;SOR=0.763	GT:AD:DP:GQ:PL	2/4:0,0,30,0,15,0,0:47:99:2382,2139,2113,670,655,545,2139,2113,655,2113,1288,1273,0,1273,1202,2139,2113,655,2113,1273,2113,2139,2113,655,2113,1273,2113,2113	0	1	0	0
chr1	155309931	155309931	C	T	exonic	FDPS	.	nonsynonymous SNV	FDPS:NM_001135821:exon2:c.C142T:p.R48C	Porokeratosis 9, multiple types	.	427	1089	5	1	0	7	0.00320366	.	.	3208025	FDPS-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	.	.	1.000	D	0.695	N	1.1	T	-0.991	T	0.090	T	0.334	3.924	19.96	3.1	1.012	2.244	9.797	0.193	.	0.0079	0.00499201	0.0046	0.0281	0.0045	0	0.0035	0.0030	0.0051	0.0003	0.0030853	477	154602	rs35362111	0.0023	0.0023	0.0024	0.0021	0.0192	0.0022	0.0022	0.0180	0.0175	0.0192	0.0029	0.0007	0	0.0010	0.0030	0.0020	0.0030	0.0002	0.0066	0.0067	0.0068	0.0065	0.0190	0.0063	0.0062	0.0179	0.0175	0.0190	0	0.0033	0.0014	0	0.0016	0	0.0019	0.0080	0.0002	0.0	0.91255	D	0.01	0.92824	D	1.0	0.90584	D	0.985	0.76457	D	.	.	.	.	0.806336	0.81001	D	2.125	0.59049	M	1.1	0.39050	T	-0.31	0.12099	N	0.682	0.68863	-0.9910	0.32347	T	0.090	0.34628	T	9	0.005872637	0.00131	T	.	.	.	0.193	0.47281	.	.	0.592282861509	0.58905	0.23138498350767142	0.23053	1.16536892638	0.79601	0.583023130894	0.50511	T	0.115176	0.43357	T	-0.401299	0.02270	T	-0.332958	0.41139	T	0.0367789536486905	0.03118	T	0.893011	0.63001	D	0.1941077	0.41148	0.20554064	0.44728	0.2057332	0.42724	0.21557797	0.46151	-5.647	0.43219	T	.	.	0.279	0.51209	B	.;.;.;.	.;.;.;.	4.802974	0.78054	26.8	0.99913485058176965	0.98238	0.71325	0.34964	D	ALL	0.327531	0.42847	N	0.281358203654871	0.55203	3.684616	0.250602851786077	0.52683	3.441574	0.999999995794113	0.74766	0.660085	0.49399	0	0.52208	0.09955	0	0.662677	0.59975	0	0.56214	0.19341	0	.	.	4.03	3.1	0.34780	2.324000	0.43491	4.425000	0.43330	0.545000	0.25583	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.79:0.21:0.0	9.797	0.39907	40	0.97949	.;.;.;.	.	.	.	.	.	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	0.02381	750.98	33	chr1	155309931	.	C	T	750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.741;SOR=0.610	GT:AD:DP:GQ:PL	0/1:27,28:55:99:765,0,700	20	0	1	0
chr1	155736985	155736985	G	A	exonic	DAP3	.	nonsynonymous SNV	DAP3:NM_001199850:exon11:c.G931A:p.V311I	.	.	429	1075	16	2	0	20	0.00921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.562	P	0.369	B	0.000	N	1.000	D	1.67	L	0.44	T	-0.941	T	0.109	T	0.129	3.320	17.16	4.35	1.419	5.526	12.782	0.078	.	0.0048	0.00279553	0.0052	0.0019	0.0066	0.0002	0.0014	0.0071	0.0121	0.0022	0.0051552	797	154602	rs41264967	0.0061	0.0061	0.0060	0.0061	0.0189	0.0060	0.0059	0.0160	0.0149	0.0017	0.0054	0.0033	2.52e-05	0.0014	0.0189	0.0069	0.0067	0.0026	0.0050	0.0050	0.0050	0.0049	0.0094	0.0047	0.0046	0.0081	0.0076	0.0014	0	0.0094	0.0035	0	0.0009	0.0102	0.0075	0.0062	0.0019	0.133	0.29029	T	0.073	0.43344	T	0.562	0.38380	P	0.369	0.43514	B	0.000002	0.62929	N	0.059383	0.999979	0.81001	D	2.12	0.58754	M	0.44	0.56609	T	-0.82	0.22508	N	0.144	0.15469	-0.9405	0.42536	T	0.109	0.39509	T	10	0.006095886	0.00137	T	.	.	.	0.078	0.22779	.	.	0.177238962908	0.17366	0.5527289742262145	0.55198	0.285031543082	0.30913	0.424291908741	0.28427	T	0.157525	0.50016	T	-0.475524	0.00786	T	-0.450706	0.27618	T	0.0373678571600398	0.03221	T	0.760924	0.47282	T	0.041589677	0.06152	0.053059533	0.08865	0.041589677	0.06152	0.053059533	0.08864	-3.823	0.26534	T	.	.	0.092	0.20780	B	.;.;.;.;.;.	.;.;.;.;.;.	3.455295	0.48139	22.6	0.99417193392196113	0.63597	0.95591	0.65334	D	AEFGBI	0.664566	0.63369	D	0.19180980770286	0.50805	3.26717	0.282922501680218	0.54541	3.618891	0.775429456120125	0.23744	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	4.35	0.51454	5.446000	0.66347	7.197000	0.57788	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0803:0.0:0.9197:0.0	12.782	0.56859	68	0.97118	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	758.98	35	chr1	155736985	.	G	A	758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.789e+00;DP=812;ExcessHet=0.0000;FS=0.806;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.25;ReadPosRankSum=-5.830e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:57,35:92:99:773,0,1683	20	0	1	0
chr1	156054929	156054929	G	A	exonic	LAMTOR2	.	nonsynonymous SNV	LAMTOR2:NM_001145264:exon1:c.G40A:p.A14T	Immunodeficiency due to defect in MAPBP-interacting protein, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	1.0	D	0.996	D	0.000	D	1.000	D	2.865	M	1.97	T	-0.916	T	0.138	T	0.669	6.143	37	5.71	2.698	8.710	17.351	0.346	0.0185649164438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.144	0.60972	T	1.0	0.90584	D	0.996	0.84481	D	0.000012	0.62929	D	0.110950	1	0.81001	D	2.575	0.75298	M	1.97	0.22067	T	-3.29	0.65742	D	0.691	0.84922	-0.9162	0.46063	T	0.138	0.45526	T	10	0.7180366	0.73476	D	0.018565	0.40677	T	0.346	0.66769	0.565	0.68633	0.440498838766	0.43668	0.7627941930191707	0.76227	1.92046280059	0.92997	0.874845743179	0.93253	D	0.229831	0.59576	T	0.0510922	0.58483	T	-0.164386	0.57955	T	0.994187712669373	0.85331	D	0.957954	0.84742	D	0.7992612	0.83858	0.79222816	0.87784	0.7992612	0.83860	0.79222816	0.87785	-8.051	0.61417	D	.	.	0.825	0.78486	P	.;.;.	.;.;.	5.123039	0.85695	28.7	0.99925559394156105	0.99042	0.97343	0.74151	D	ALL	0.952986	0.96890	D	0.935718139677664	0.93396	12.01226	0.903149664376153	0.95709	13.88725	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.71	5.71	0.89031	7.131000	0.76850	11.626000	0.93661	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	17.351	0.87213	316	0.87161	Roadblock/LAMTOR2 domain|Roadblock/LAMTOR2 domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1006.98	36	chr1	156054929	.	G	A	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.678;SOR=0.608	GT:AD:DP:GQ:PL	0/1:43,43:86:99:1021,0,927	20	0	1	0
chr1	156245964	156245964	G	T	exonic	PAQR6	.	nonsynonymous SNV	PAQR6:NM_001272104:exon4:c.C203A:p.A68E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.003	B	.	.	1.000	N	0.9	L	1.51	T	-0.968	T	0.016	T	0.275	1.203	9.888	0.065	-0.162	0.054	4.221	0.031	0.0406794109737	.	.	0.0002	0	0	0	0	0	0	0.0004	1.94e-05	3	154602	rs754447314	2.155e-05	2.121e-05	1.417e-05	2.913e-05	0.0004	1.529e-05	1.327e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.734e-05	0.0004	6.57e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.352	0.12226	T	1.0	0.01155	T	0.0	0.02946	B	0.003	0.08700	B	.	.	.	.	1	0.81001	D	0.755	0.19153	N	1.51	0.30937	T	-0.71	0.21215	N	0.346	0.38746	-0.9676	0.37693	T	0.016	0.06664	T	9	0.14614213	0.27711	T	0.040679	0.59509	D	0.031	0.07369	0.651	0.78858	0.0482279557977	0.04254	.	.	.	.	0.720181941986	0.70072	T	0.027924	0.20342	T	-0.439391	0.01304	T	-0.565802	0.15836	T	0.0300101767649337	0.01991	T	0.511749	0.16382	T	0.16643088	0.36977	0.116312936	0.28078	0.16643088	0.36977	0.116312936	0.28077	-7.379	0.64084	T	.	.	0.147	0.33596	B	.;.;.	.;.;.	0.643300	0.10115	6.863	0.92723819308481059	0.22221	0.29665	0.23882	N	ALL	0.170473	0.29738	N	-0.999588290316375	0.08613	0.4044861	-0.960816371117966	0.10673	0.5390493	0.999999997559898	0.74766	0.685219	0.55550	0	0.218748	0.04544	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	4.6	0.065	0.13668	-0.400000	0.07302	0.535000	0.19282	-0.915000	0.02235	0.002000	0.15269	0.029000	0.21193	0.017000	0.10941	0.5019:0.0:0.333:0.1651	4.221	0.10015	290	0.88477	.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	613.98	31	chr1	156245964	.	G	T	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.565e+00;DP=862;ExcessHet=0.0000;FS=2.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=-1.176e+00;SOR=0.379	GT:AD:DP:GQ:PL	0/1:21,23:44:99:628,0,633	20	0	1	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	N	.	.	.	.	.	.	.	.	.	0.675	7.612	1.31	0.316	-0.180	4.184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1192.72	73	chr1	156815839	.	G	C	1192.72	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.688e+00;DP=2417;ExcessHet=3.5521;FS=187.374;InbreedingCoeff=-0.2541;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=1.11;ReadPosRankSum=1.23;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,29:117:41:.:.:41,0,1921	12	0	8	1
chr1	158847780	158847780	C	T	exonic	MNDA	.	nonsynonymous SNV	MNDA:NM_002432:exon6:c.C1040T:p.S347F,	.	.	.	.	.	.	.	.	.	.	.	1827070	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.927	P	0.69	P	0.035	N	1.000	N	0.805	L	2.44	T	-1.002	T	0.015	T	0.386	2.116	13.03	-7.62	-1.523	-0.843	2.795	0.129	0.00457489959449	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914856154	6.841e-06	6.84e-06	2.723e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	7.281e-05	5.16e-05	0	0.0002	0	0	0	0	1.799e-06	1.656e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	0.0001	2.19e-06	8.2e-07	2.264e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.005	0.63226	D	0.026	0.55759	D	0.927	0.51527	P	0.69	0.53781	P	0.035411	0.01802	N	2.838470	1	0.08975	N	1.04	0.26193	L	2.44	0.15145	T	-3.44	0.67477	D	0.231	0.25989	-1.0025	0.29197	T	0.015	0.06234	T	10	0.24146497	0.41325	T	0.004575	0.11283	T	0.129	0.35316	0.582	0.70861	0.15556083564	0.15200	0.027549574140398946	0.02704	0.0185571818858	0.01807	0.357647687197	0.19043	T	0.025439	0.19020	T	-0.39456	0.02513	T	-0.549489	0.17374	T	0.336936920881271	0.26502	T	0.366763	0.08556	T	0.17941763	0.39011	0.13178004	0.31637	0.17941763	0.39011	0.13178004	0.31636	-8.575	0.64924	D	.	.	0.182	0.39477	B	.	.	0.507581	0.08767	5.541	0.96332974365955792	0.29456	0.00742	0.03097	N	AEFGBI	0.036604	0.04905	N	-1.15101008708356	0.05763	0.263588	-1.41760565190476	0.03075	0.1427798	0.999268735007299	0.38940	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.81	-7.62	0.01154	-1.051000	0.03618	-8.989000	0.00883	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.199:0.4088:0.2751:0.117	2.795	0.05067	889	0.27310	HIN-200/IF120x|HIN-200/IF120x	.	.	.	.	.	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	0.04762	3430.08	38	chr1	158847780	.	C	T	3430.08	.	AC=2;AF=0.048;AN=42;DP=847;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.57;SOR=1.047	GT:AD:DP:GQ:PL	1/1:0,116:116:99:3458,348,0	20	1	0	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N	.	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.0	B	0.001	B	0.168	N	1.000	N	0.14	N	3.07	T	-0.940	T	0.010	T	0.017	-0.308	2.533	2.21	0.223	-1.239	2.806	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	5512.66	190	chr1	161048864	.	C	G	5512.66	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-5.721e+00;DP=4354;ExcessHet=20.9642;FS=217.040;InbreedingCoeff=-0.6084;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.61;ReadPosRankSum=1.77;SOR=13.867	GT:AD:DP:GQ:PL	0/1:161,68:229:99:435,0,3549	5	0	16	0
chr1	161193649	161193649	T	C	exonic	ADAMTS4	.	nonsynonymous SNV	ADAMTS4:NM_001320336:exon6:c.A1726G:p.T576A	.	.	433	1057	31	1	0	33	0.0153703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.879	N	1.000	N	-0.205	N	3.94	T	-0.902	T	0.001	T	0.048	1.745	11.79	-6.79	-1.388	-0.910	1.484	0.014	.	0.0022	0.00339457	0.0048	0.0009	0.0002	0.0003	0.0124	0.0026	0.0059	0.0212	0.0041979	649	154602	rs150093855	0.0036	0.0036	0.0031	0.0041	0.0182	0.0035	0.0035	0.0174	0.0171	0.0006	0.0006	0.0063	0.0003	0.0105	0.0132	0.0024	0.0032	0.0182	0.0031	0.0031	0.0024	0.0037	0.0158	0.0028	0.0028	0.0129	0.0119	0.0006	0	0.0007	0.0072	0	0.0148	0.0136	0.0025	0.0014	0.0158	0.591	0.05790	T	0.739	0.05000	T	0.0	0.02946	B	0.0	0.01387	B	0.879494	0.07226	N	1.062690	1	0.08975	N	0.345	0.11182	N	3.94	0.03408	T	-0.81	0.22294	N	0.081	0.05670	-0.9016	0.47824	T	0.001	0.00378	T	10	0.002042383	0.00029	T	.	.	.	0.014	0.01968	.	.	0.178374595973	0.17440	0.29998361522319555	0.29911	0.283771534301	0.30815	0.270557552576	0.06214	T	0.074334	0.34913	T	-0.715835	0.00029	T	-0.786744	0.02255	T	0.00203504934561094	0.00021	T	0.0319468	0.00204	T	0.048147403	0.08347	0.026641525	0.00765	0.048147403	0.08346	0.026641525	0.00765	-2.063	0.03428	T	.	.	0.053	0.00259	B	.	.	-0.275275	0.02728	0.361	0.71634526295675038	0.09696	0.03210	0.08210	N	AEFBI	0.056460	0.10439	N	-1.54427296036643	0.01568	0.06852442	-1.53708658106933	0.02066	0.09447606	0.999999090882851	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	4.96	-6.79	0.01554	-0.147000	0.10218	-3.564000	0.02692	-0.119000	0.14319	0.000000	0.06391	0.000000	0.08366	0.906000	0.44173	0.1928:0.36:0.2041:0.2431	1.484	0.02295	428	0.80967	.	.	.	.	.	.	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	0.02381	1085.98	67	chr1	161193649	.	T	C	1085.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=1366;ExcessHet=0.0000;FS=5.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-7.850e-01;SOR=1.220	GT:AD:DP:GQ:PL	0/1:40,37:77:99:1100,0,1183	20	0	1	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.36	B	0.433	B	0.000	D	1.000	D	1.135	L	.	.	-0.981	T	0.105	T	0.858	4.070	20.9	4.33	0.955	5.327	11.107	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	218.51	112	chr1	165743215	.	G	C	218.51	.	AC=6;AF=0.167;AN=36;BaseQRankSum=-3.149e+00;DP=1772;ExcessHet=1.7912;FS=225.654;InbreedingCoeff=-0.2159;MLEAC=6;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.715;SOR=11.634	GT:AD:DP:GQ:PL	0/1:66,22:88:59:59,0,1239	12	0	6	3
chr1	172387227	172387227	G	A	exonic	DNM3	.	nonsynonymous SNV	DNM3:NM_001136127:exon18:c.G2141A:p.R714H	.	.	429	1049	43	1	0	45	0.0209986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.467	P	0.233	B	0.000	D	1.000	D	2.575	M	0.42	T	-0.858	T	0.119	T	0.222	2.867	15.55	4.52	1.441	1.786	9.773	0.179	.	0.0005	0.00958466	0.0064	0.0005	0.0008	0	0	0.0006	0.0122	0.0426	0.0055239	854	154602	rs199616510	0.0030	0.0030	0.0017	0.0044	0.0439	0.0030	0.0029	0.0427	0.0422	0.0003	0.0006	0	0.0002	3.745e-05	0.0076	0.0003	0.0028	0.0439	0.0017	0.0017	0.0011	0.0025	0.0456	0.0016	0.0015	0.0407	0.0388	0.0003	0	0.0007	0	0	0	0	0.0003	0.0005	0.0456	0.071	0.38863	T	0.153	0.33330	T	0.066	0.36479	B	0.011	0.38358	B	0.000001	0.62929	D	0.052276	0.999601	0.47795	D	1.705	0.44259	L	0.42	0.56937	T	-3.22	0.70793	D	0.16	0.25499	-0.8579	0.51413	T	0.119	0.41626	T	10	0.011695832	0.00254	T	.	.	.	0.179	0.44899	.	.	0.559310644637	0.55592	0.6037449557045037	0.60305	.	.	0.410042673349	0.26462	T	0.334391	0.70413	T	-0.486751	0.00677	T	-0.440544	0.28747	T	0.0444640016845899	0.04504	T	0.922308	0.71764	D	0.15019159	0.34203	0.14283144	0.33967	0.15019159	0.34203	0.14283144	0.33966	-8.728	0.66008	D	.	.	0.080	0.17827	B	.;.;.;.	.;.;.;.	2.890302	0.38275	20.7	0.99279535840508282	0.57869	0.88715	0.48775	D	AEFI	0.357164	0.44830	N	-0.0326096827136058	0.40381	2.397203	0.0561951506101495	0.42373	2.561725	0.999999058003625	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.43	4.52	0.54797	2.199000	0.42348	3.067000	0.36184	-0.875000	0.02511	1.000000	0.71638	0.999000	0.35428	0.969000	0.54022	0.1594:0.0:0.8406:0.0	9.773	0.39769	490	0.76723	Dynamin GTPase effector|GTPase effector domain|Dynamin GTPase effector;.;.;Dynamin GTPase effector|GTPase effector domain|Dynamin GTPase effector	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2525.98	35	chr1	172387227	.	G	A	2525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.55;DP=903;ExcessHet=0.0000;FS=2.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=0.099;SOR=0.900	GT:AD:DP:GQ:PL	0/1:93,94:187:99:2540,0,2154	20	0	1	0
chr1	172555897	172555897	C	T	exonic	SUCO	.	nonsynonymous SNV	SUCO:NM_001282750:exon3:c.C206T:p.P69L	.	.	432	1089	1	0	0	1	0.000458926	.	.	1613905	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.987	D	0.46	P	0.017	N	1.000	D	0.695	N	.	.	-0.999	T	0.093	T	0.288	4.421	23.5	5.87	2.941	3.478	18.072	0.062	0.00233652267326	7.7e-05	.	0.0004	0	0.0025	0	0	0.0002	0.0011	0.0006	0.0003363	52	154602	rs199539904	0.0002	0.0002	0.0002	0.0002	0.0021	0.0002	0.0002	0.0018	0.0016	0.0001	0.0021	0.0018	0	0	0.0002	0.0001	0.0006	0.0003	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0008	0.0006	4.822e-05	0	0.0012	0.0012	0	0	0	0.0001	0.0014	0	0.17	0.59928	T	0.132	0.60337	T	0.821	0.54515	P	0.179	0.42263	B	0.016851	0.27871	N	0.383936	1	0.81001	D	1.59	0.40313	L	.	.	.	-1.23	0.31170	N	0.319	0.36569	-0.9986	0.30311	T	0.093	0.35255	T	9	0.017297685	0.00368	T	0.002337	0.04535	T	0.062	0.17934	.	.	0.260249123532	0.25628	0.15949043371680247	0.15870	0.148525744174	0.16750	0.259085357189	0.04783	T	0.021771	0.59206	T	-0.370171	0.03585	T	-0.311286	0.43520	T	0.0164917066507624	0.00413	T	0.922808	0.72788	D	0.106800646	0.25254	0.0592877	0.11100	0.106800646	0.25254	0.0592877	0.11100	-3.728	0.22602	T	.	.	0.088	0.11510	B	.;.;.;.	.;.;.;.	4.053162	0.60094	24.2	0.99827676400516607	0.90939	0.95159	0.63654	D	AEFBI	0.283450	0.39655	N	0.368919130899477	0.59745	4.156546	0.465992398496704	0.65749	4.863453	0.999999999809966	0.74766	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	3.522000	0.53236	4.881000	0.45666	0.530000	0.24713	0.993000	0.37899	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	18.072	0.89338	449	0.79428	.;.;.;.	.	.	.	.	.	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	0.02381	921.98	35	chr1	172555897	.	C	T	921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=757;ExcessHet=0.0000;FS=1.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.422e+00;SOR=0.972	GT:AD:DP:GQ:PL	0/1:38,36:74:99:936,0,880	20	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	21772.6	79	chr1	175160810	.	C	T,*	21772.6	.	AC=20,9;AF=0.476,0.214;AN=42;BaseQRankSum=0.238;DP=1529;ExcessHet=1.3217;FS=0.603;InbreedingCoeff=-0.0027;MLEAC=20,9;MLEAF=0.476,0.214;MQ=60.00;MQRankSum=0.00;QD=16.26;ReadPosRankSum=1.92;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:12,78,0:90:99:.:.:2635,204,0,2653,234,2682	2	5	6	0
chr1	176882938	176882938	T	G	exonic	ASTN1	.	nonsynonymous SNV	ASTN1:NM_001286164:exon20:c.A3283C:p.M1095L	.	.	433	1079	10	0	0	10	0.00461255	.	.	432205	Abnormal_corpus_callosum_morphology|not_provided	Human_Phenotype_Ontology:HP:0001273,Human_Phenotype_Ontology:HP:0007323,MedGen:C1842581|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.257	B	0.557	P	0.000	D	1.000	D	1.39	L	1.16	T	-0.893	T	0.149	T	0.733	4.112	21.2	5.66	2.158	7.517	15.563	0.244	0.0219076341437	0.0028	0.00179712	0.0034	0.0002	0.0005	0.0001	0.0008	0.0042	0.0011	0.0074	0.0034152	528	154602	rs151246825	0.0038	0.0038	0.0037	0.0039	0.0073	0.0037	0.0037	0.0065	0.0063	0.0002	0.0013	0.0098	0	0.0009	0.0073	0.0039	0.0036	0.0069	0.0027	0.0027	0.0030	0.0025	0.0075	0.0025	0.0024	0.0056	0.0049	0.0006	0.0154	0.0010	0.0121	0	0.0006	0	0.0040	0.0038	0.0075	0.088	0.32453	T	0.462	0.12920	T	0.257	0.31412	B	0.557	0.49454	P	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.16	0.38073	T	-0.74	0.21215	N	0.626	0.73105	-0.8932	0.48650	T	0.149	0.47522	T	10	0.007880479	0.00179	T	0.021908	0.44740	T	0.244	0.55061	0.117	0.02508	0.372124015043	0.36827	0.4848574118172497	0.48405	0.549024000067	0.51818	0.6371986866	0.58165	T	0.047437	0.27724	T	-0.266181	0.12185	T	-0.144739	0.59705	T	0.039071109360196	0.03523	T	0.892511	0.62902	D	.	.	.	.	.	.	.	.	0.359	0.00303	T	.	.	0.200	0.47976	B	.;.;.	.;.;.	3.680631	0.52392	23.2	0.98164354846962953	0.38806	0.97791	0.77159	D	AEFBI	0.907875	0.86244	D	0.276562724713296	0.54964	3.660826	0.380292540366266	0.60350	4.221636	0.999999939014487	0.74766	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.66	5.66	0.87293	7.603000	0.82048	7.877000	0.72286	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.563	0.76010	678	0.60190	Fibronectin type III;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1615.98	36	chr1	176882938	.	T	G	1615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.930e-01;DP=827;ExcessHet=0.0000;FS=1.384;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=-9.070e-01;SOR=0.851	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1630,0,1633	20	0	1	0
chr1	179108917	179108917	T	A	exonic	ABL2	.	nonsynonymous SNV	ABL2:NM_001168236:exon11:c.A2287T:p.T763S	Leukemia, acute myeloid, with eosinophilia (1)	.	438	1075	8	1	0	10	0.00462963	.	.	718409	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.41	T	0.998	D	0.987	D	0.000	D	1.000	D	0.805	L	3.03	T	-1.037	T	0.029	T	0.459	3.125	16.45	5.78	2.204	7.510	15.300	0.142	0.0103572274	0.0035	0.000798722	0.0031	0.0007	0.0016	0	0.0032	0.0045	0.0044	0.0018	0.0030724	475	154602	rs55892721	0.0034	0.0034	0.0035	0.0034	0.0078	0.0034	0.0033	0.0060	0.0054	0.0005	0.0015	0.0138	2.519e-05	0.0050	0.0078	0.0035	0.0032	0.0016	0.0029	0.0029	0.0027	0.0032	0.0037	0.0027	0.0026	0.0033	0.0032	0.0007	0	0.0037	0.0130	0.0002	0.0042	0	0.0037	0.0038	0.0019	0.2	0.20532	T	0.785	0.04603	T	0.89	0.73220	P	0.612	0.77487	P	0.000220	0.47681	D	0.000000	0.999999	0.81001	D	0.55	0.14455	N	3.03	0.08898	T	-0.28	0.11547	N	0.502	0.53445	-1.0374	0.18109	T	0.029	0.12409	T	10	0.008987635	0.00203	T	0.010357	0.26807	T	0.142	0.37995	.	.	0.79425411819	0.79233	0.16349573909045567	0.16269	0.589710923309	0.54456	0.717092633247	0.69623	T	0.057057	0.30459	T	-0.448273	0.01156	T	-0.416697	0.31455	T	0.0185296587298947	0.00569	T	0.874113	0.58433	D	0.10285268	0.24306	0.09276151	0.21876	0.10285268	0.24306	0.09276151	0.21875	-2.823	0.08548	T	.	.	0.418	0.75767	A	.;.;.	.;.;.	4.182191	0.62963	24.5	0.99411368373077458	0.63310	0.96900	0.71553	D	AEFDBCI	0.858039	0.77548	D	0.493611682990421	0.66716	4.986188	0.570575649094544	0.72841	5.873663	0.999999995203017	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.463624	0.06942	0	0.711	0.71501	0	.	.	5.78	5.78	0.91418	5.726000	0.68163	7.772000	0.68491	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.300	0.73648	488	0.76887	.;.;.	.	.	.	.	.	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	0.02381	3662.98	33	chr1	179108917	.	T	A	3662.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.190e-01;DP=1021;ExcessHet=0.0000;FS=2.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.09;ReadPosRankSum=-1.548e+00;SOR=0.549	GT:AD:DP:GQ:PL	0/1:147,156:303:99:3677,0,3682	20	0	1	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.879	D	.	.	.	.	.	.	.	.	.	0.905	8.680	3.14	1.963	2.159	6.691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	528.34	34	chr1	179903964	.	A	C	528.34	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.394e+00;DP=1049;ExcessHet=1.7912;FS=123.470;InbreedingCoeff=-0.1775;MLEAC=6;MLEAF=0.150;MQ=59.88;MQRankSum=0.00;QD=1.26;ReadPosRankSum=1.52;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,17:65:99:0|1:179903957_A_C:206,0,1379:179903957	14	0	6	1
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.991	D	0.000	D	1.000	D	2.24	M	-2.57	D	0.672	D	0.818	D	0.871	5.044	29.9	5.6	2.788	9.092	19.577	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	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	0.1786	351.91	104	chr1	180014239	.	G	C	351.91	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-3.051e+00;DP=1895;ExcessHet=1.1607;FS=246.725;InbreedingCoeff=-0.2543;MLEAC=7;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=0.125;SOR=11.993	GT:AD:DP:GQ:PL	0/1:78,41:122:88:88,0,1588	9	0	5	7
chr1	180014368	180014368	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1915C:p.A639P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.996	D	0.000	D	1.000	D	0.975	L	-2.59	D	0.412	D	0.732	D	0.811	4.909	28.3	5.44	2.712	7.229	19.239	0.533	0.162960905331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.938e-07	2.052e-05	0	1.399e-06	9.079e-07	0	0	.	.	0	0	0	0	0	0	9.079e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.073	0.43159	T	0.726	0.42471	P	0.533	0.48638	P	0.000175	0.48594	D	0.000000	0.999949	0.51968	D	2.485	0.72352	M	-2.59	0.89822	D	-2.36	0.52128	N	0.8	0.79599	0.412	0.89271	D	0.732	0.90833	D	9	0.72775644	0.74088	D	0.162961	0.84241	D	0.533	0.80367	0.183	0.09131	0.719831743072	0.71736	0.3087313756742884	0.30786	0.461430799888	0.45681	0.556343972683	0.46751	T	0.023507	0.17932	T	0.312031	0.83897	D	0.210434	0.83688	D	0.951117602773591	0.63488	D	0.90031	0.65351	D	0.6567444	0.75724	0.748747	0.85149	0.6567444	0.75725	0.748747	0.85149	-9.817	0.72809	D	.	.	0.933	0.85246	P	.	.	4.491660	0.70175	25.5	0.99786338097325844	0.87219	0.99185	0.92484	D	AEFBI	0.884800	0.81480	D	0.554747268834377	0.70372	5.491825	0.618703708997397	0.76297	6.465375	0.999999999874702	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.44	5.44	0.79348	7.646000	0.82603	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.0:1.0:0.0	19.239	0.93860	185	0.92771	.	.	.	.	.	.	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	0.02778	35.15	37	chr1	180014368	.	G	C	35.15	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-3.248e+00;DP=1613;ExcessHet=0.0000;FS=160.035;InbreedingCoeff=-0.0665;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.40;ReadPosRankSum=0.455;SOR=7.427	GT:AD:DP:GQ:PL	0/1:65,23:88:48:48,0,1549	17	0	1	3
chr1	201209540	201209647	GGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	-	exonic	IGFN1	.	nonframeshift deletion	IGFN1:NM_001164586:exon12:c.4647_4754del:p.E1556_S1591del,	.	.	426	1075	15	0	6	21	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0035	0	0	0	0	0.0073	0	0.0014	.	.	.	.	0.0006	0.0005	0.0006	0.0006	0.0011	0.0005	0.0005	0.0009	0.0009	3.963e-05	0.0004	0.0221	0	0	0.0011	0.0001	0.0017	0.0011	0.0015	0.0012	0.0015	0.0015	0.0029	0.0013	0.0012	0.0014	0.0010	0.0002	0	0.0007	0.0425	0	0	0	0.0003	0.0009	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	7193.51	294	chr1	201209539	.	CGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG	GGGATGGTTTAGGAGGTTCTGAAGAAATGGGGTCAGTGAATAAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAG,C	7193.51	.	AC=5,1;AF=0.250,0.050;AN=20;BaseQRankSum=3.28;DP=5820;ExcessHet=1.7912;FS=3.273;InbreedingCoeff=-0.3775;MLEAC=8,2;MLEAF=0.400,0.100;MQ=58.68;MQRankSum=-1.180e+01;QD=4.16;ReadPosRankSum=-5.710e+00;SOR=1.032	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,0,155:373:99:.:.:3766,4421,13144,0,8724,8351	4	0	5	11
chr1	201209552	201209552	A	0	exonic	IGFN1	.	.	.	.	.	427	1062	28	0	5	33	0.0130112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6307.61	317	chr1	201209552	.	A	G,*	6307.61	.	AC=5,1;AF=0.417,0.083;AN=12;BaseQRankSum=-1.020e-01;DP=6709;ExcessHet=1.7912;FS=4.049;InbreedingCoeff=-0.4737;MLEAC=9,2;MLEAF=0.750,0.167;MQ=58.39;MQRankSum=-1.237e+01;QD=3.47;ReadPosRankSum=-6.142e+00;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,0,155:373:99:.:.:3766,4421,13144,0,8724,8351	0	0	5	15
chr1	201209574	201209574	G	A	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.G4681A:p.V1561M,	.	.	424	1088	5	0	5	10	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	N	0	N	-2.34	D	-0.641	T	0.335	T	0.032	1.162	9.731	0.207	-0.136	0.874	7.689	0.111	0.0424514690007	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1199560350	2.2e-06	5.826e-05	0	4.463e-06	8.755e-05	5.9e-07	1.6e-07	2.32e-05	1.243e-05	0	0	0	8.755e-05	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.058	0.37750	T	0.23	0.25135	T	.	.	.	.	.	.	.	.	.	.	1	0.31195	N	.	.	.	-2.34	0.87989	D	-0.18	0.09796	N	0.058	0.02964	-0.6413	0.63091	T	0.335	0.70190	T	6	0.09829211	0.17760	T	0.042451	0.60473	D	0.111	0.31313	.	.	0.418221603839	0.41440	0.4259469644963177	0.42511	.	.	0.345199108124	0.17212	T	.	.	.	-0.208911	0.19532	T	-0.537862	0.18506	T	0.0624787049460526	0.07554	T	0.334067	0.07092	T	.	.	.	.	.	.	.	.	-6.804	0.52589	T	.	.	0.148	0.32804	B	.	.	0.387019	0.07588	4.245	0.90860894993395269	0.20109	0.02096	0.06219	N	AEFBI	0.055340	0.10140	N	-0.931187694329861	0.10118	0.482022	-1.08983207664597	0.07899	0.3861357	4.72183203972467E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.39	0.207	0.14491	-0.178000	0.09775	-9.871000	0.00766	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2665:0.7335:0.0	7.689	0.27722	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	50.99	322	chr1	201209574	.	G	A,*	50.99	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-2.420e-01;DP=7265;ExcessHet=0.1072;FS=0.688;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.47;MQRankSum=-1.159e+01;QD=0.07;ReadPosRankSum=-3.765e+00;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,0,155:373:99:.:.:3766,4421,13144,0,8724,8351	12	0	1	7
chr1	201209574	201209574	G	0	exonic	IGFN1	.	.	.	.	.	424	1088	5	0	5	10	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	50.99	322	chr1	201209574	.	G	A,*	50.99	.	AC=1,1;AF=0.036,0.036;AN=28;BaseQRankSum=-2.420e-01;DP=7265;ExcessHet=0.1072;FS=0.688;InbreedingCoeff=-0.1507;MLEAC=1,1;MLEAF=0.036,0.036;MQ=57.47;MQRankSum=-1.159e+01;QD=0.07;ReadPosRankSum=-3.765e+00;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,0,155:373:99:.:.:3766,4421,13144,0,8724,8351	12	0	1	7
chr1	201209577	201209577	A	G	exonic	IGFN1	.	nonsynonymous SNV	IGFN1:NM_001164586:exon12:c.A4684G:p.N1562D,	.	.	428	1084	5	0	5	10	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	0	N	-2.33	D	-0.819	T	0.308	T	0.056	0.608	7.274	-1.02	-0.656	0.238	6.065	0.175	0.0190191815074	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1266023800	0	5.088e-05	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	0.341	0.12673	T	0.236	0.24694	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.33	0.87910	D	-0.62	0.18248	N	0.062	0.03392	-0.8192	0.53984	T	0.308	0.67831	T	6	0.07540259	0.11648	T	0.019019	0.41266	T	0.175	0.44197	.	.	0.319970858106	0.31615	0.26554459910632044	0.26467	.	.	0.361872196198	0.19658	T	.	.	.	-0.213361	0.18908	T	-0.544255	0.17882	T	0.0424012125872128	0.04128	T	0.20408	0.02372	T	.	.	.	.	.	.	.	.	-5.531	0.42157	T	.	.	0.106	0.19800	B	.	.	-0.816030	0.01075	0.047	0.80079953806396409	0.13035	0.00057	0.00426	N	AEFBI	0.026151	0.01914	N	-1.29212876401835	0.03769	0.1689677	-1.44933870245113	0.02776	0.1282977	1.29537362201582E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	1.71	-1.02	0.09618	-2.873000	0.00788	-3.768000	0.02550	-0.903000	0.02311	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.6681:0.0:0.3319:0.0	6.065	0.19081	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.0625	68.24	322	chr1	201209577	.	A	G,*	68.24	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-1.238e+00;DP=7358;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=1,1;MLEAF=0.031,0.031;MQ=57.44;MQRankSum=-1.147e+01;QD=0.09;ReadPosRankSum=-4.409e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,0,155:373:99:.:.:3766,4421,13144,0,8724,8351	14	0	1	5
chr1	201209577	201209577	A	0	exonic	IGFN1	.	.	.	.	.	428	1084	5	0	5	10	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	68.24	322	chr1	201209577	.	A	G,*	68.24	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-1.238e+00;DP=7358;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=1,1;MLEAF=0.031,0.031;MQ=57.44;MQRankSum=-1.147e+01;QD=0.09;ReadPosRankSum=-4.409e+00;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:218,0,155:373:99:.:.:3766,4421,13144,0,8724,8351	14	0	1	5
chr1	201209798	201209798	-	GCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4905_4906insGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:p.G1647_I1648insMGSGSKASFRDGLGGSGEMGSVNEAGYRKDLGAPKG,	.	.	682	662	104	2	72	180	0.075419	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0	0	0	0	0.0021	0	0	.	.	.	.	0.0018	0.0016	0.0018	0.0018	0.0119	0.0017	0.0016	0.0084	0.0073	0.0119	0.0021	0.0016	0.0109	0.0043	0	0.0013	0.0023	0.0021	0.0006	0.0094	0.0010	0.0002	0.0037	0.0003	0.0002	0.0001	7.467e-05	0.0004	0	0.0007	0	0.0037	0.0015	0	0.0005	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	21447.27	257	chr1	201209798	.	G	GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA	21447.27	.	AC=8;AF=0.667;AN=12;BaseQRankSum=-9.710e-01;DP=6247;ExcessHet=0.0045;FS=0.524;InbreedingCoeff=0.2535;MLEAC=17;MLEAF=1.00;MQ=53.84;MQRankSum=-7.397e+00;QD=23.83;ReadPosRankSum=-9.608e+00;SOR=0.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,50:165:99:0|1:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:998,0,4671:201209798	1	3	2	15
chr1	201209836	201209836	-	GGGTTC	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4943_4944insGGGTTC:p.I1648delinsMGS,	.	.	422	1070	28	0	2	30	0.0129151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	3.84e-05	1	26028	rs764283275	9.788e-06	0.0002	1.337e-05	6.108e-06	5.809e-05	5.46e-06	4.21e-06	9.62e-06	3.6e-06	0	0	0	5.809e-05	0	0	9.653e-06	1.805e-05	0	6.799e-06	0.0002	1.327e-05	0	.	0	0	.	.	0	0	0	0	0	9.775e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	8560.35	257	chr1	201209836	.	T	TGGGTTC	8560.35	.	AC=4;AF=0.100;AN=40;BaseQRankSum=2.74;DP=6643;ExcessHet=0.7148;FS=1.833;InbreedingCoeff=0.0162;MLEAC=4;MLEAF=0.100;MQ=52.22;MQRankSum=-7.702e+00;QD=5.90;ReadPosRankSum=-4.416e+00;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:266,118:384:99:1|0:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:2043,0,8640:201209798	16	0	4	1
chr1	201209837	201209837	-	GGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	exonic	IGFN1	.	nonframeshift insertion	IGFN1:NM_001164586:exon12:c.4944_4945insGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG:p.S1650_G1651insKASFRDGLGGSGEMGSVNEAGYRKDLGAPKGMGS,	.	.	516	555	409	0	42	451	0.269256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0008	0	0	.	.	.	.	1.544e-05	0.0005	2.273e-05	7.867e-06	0.0002	7.64e-06	4.8e-06	6.16e-06	3.39e-06	0	0	0	0.0002	0	0	1.436e-05	5.053e-05	0	5.356e-05	0.0009	5.097e-05	5.641e-05	5.625e-05	8.87e-06	3.32e-06	.	.	0	0	0	0	0	0.0004	0	5.625e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14067.83	177	chr1	201209837	.	A	G,AGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATG	14067.83	.	AC=3,4;AF=0.214,0.286;AN=14;BaseQRankSum=1.99;DP=7537;ExcessHet=3.1160;FS=2.726;InbreedingCoeff=-0.4173;MLEAC=5,7;MLEAF=0.357,0.500;MQ=52.14;MQRankSum=-6.885e+00;QD=7.29;ReadPosRankSum=-1.433e+01;SOR=0.720	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:266,0,118:384:99:1|0:201209798_G_GGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAA:2039,2835,11828,0,8993,8645:201209798	0	0	3	14
chr1	201488943	201488943	T	A	exonic	CSRP1	.	nonsynonymous SNV	CSRP1:NM_001193570:exon4:c.A323T:p.K108I	.	.	434	1061	27	0	0	27	0.012564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.973	D	0.895	P	0.000	D	1.000	D	2.275	M	0.75	T	-0.825	T	0.105	T	0.625	4.313	22.6	5.53	2.086	5.959	10.379	0.137	.	0.0012	0.0105831	0.0076	0.0007	0.0009	0.0296	0.0029	0.0019	0.0044	0.0297	0.0068498	1059	154602	rs3738283	0.0052	0.0052	0.0043	0.0061	0.0465	0.0051	0.0050	0.0447	0.0440	0.0005	0.0009	0.0016	0.0465	0.0017	0.0031	0.0023	0.0046	0.0312	0.0032	0.0033	0.0027	0.0038	0.0286	0.0030	0.0029	0.0247	0.0233	0.0005	0.0044	0.0007	0.0003	0.0263	0.0025	0	0.0022	0.0028	0.0286	0.052	0.43085	T	0.083	0.44702	T	0.068	0.23728	B	0.04	0.23831	B	0.000000	0.84330	D	0.044457	0.999993	0.58761	D	3.12	0.87914	M	0.75	0.50192	T	-2.26	0.59545	N	0.472	0.60579	-0.8250	0.53619	T	0.105	0.38390	T	10	0.0058401525	0.00130	T	.	.	.	0.137	0.36984	.	.	0.70693104076	0.70437	0.49026484260685355	0.48946	0.451572985527	0.44902	0.613706946373	0.54839	T	0.282317	0.65505	T	-0.315689	0.07257	T	-0.175191	0.56968	T	0.063099928941028	0.07647	T	0.975702	0.91674	D	0.29719242	0.52651	0.1889332	0.42211	0.29719242	0.52651	0.1889332	0.42210	-12.666	0.87941	D	.	.	0.721	0.73821	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.867239	0.79709	27.2	0.99486396034677693	0.67180	0.82777	0.41959	D	AEFBCI	0.892651	0.82980	D	0.298869076774726	0.56092	3.773414	0.39157591504516	0.61043	4.299257	0.999999999904671	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.53	5.53	0.82530	5.935000	0.69862	6.100000	0.53542	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.0824:0.0:0.9176	10.379	0.43284	927	0.17636	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	4435.68	34	chr1	201488943	.	T	A	4435.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.576e+00;DP=972;ExcessHet=0.3300;FS=7.525;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=0.228;SOR=0.432	GT:AD:DP:GQ:PL	0/1:41,59:100:99:1521,0,997	18	0	3	0
chr1	204261313	204261313	G	A	exonic	PLEKHA6	.	nonsynonymous SNV	PLEKHA6:NM_014935:exon7:c.C517T:p.R173W,	.	.	412	1095	14	1	0	16	0.00725295	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.99	D	0.402	B	0.225	N	0.999	N	1.39	L	3.28	T	-1.076	T	0.017	T	0.381	2.540	14.45	5.56	2.601	4.830	16.254	0.105	.	0.0013	0.00219649	0.0019	0.0003	0.0042	0	0	0.0023	0.0066	0.0013	0.0019275	298	154602	rs141581226	0.0019	0.0019	0.0018	0.0020	0.0163	0.0018	0.0018	0.0136	0.0126	0.0011	0.0035	0.0123	2.519e-05	0	0.0163	0.0016	0.0032	0.0018	0.0016	0.0016	0.0016	0.0017	0.0036	0.0014	0.0014	0.0028	0.0026	0.0004	0	0.0036	0.0141	0	0	0.0102	0.0016	0.0038	0.0008	0.003	0.72154	D	0.018	0.76473	D	0.99	0.63424	D	0.402	0.44547	B	0.225397	0.16041	N	0.655487	0.998607	0.22043	N	1.7	0.43825	L	2.79	0.11189	T	-1.85	0.44657	N	0.434	0.50598	-1.0758	0.08184	T	0.017	0.06855	T	10	0.005449593	0.00120	T	.	.	.	0.105	0.29889	.	.	0.043077524339	0.03247	0.6050892427757084	0.60439	0.26449745186	0.28997	0.441804796457	0.30824	T	0.054144	0.29641	T	-0.452795	0.01087	T	-0.425922	0.30399	T	0.0598023135962764	0.07137	T	0.956054	0.83719	D	0.05917341	0.11995	0.09994748	0.23881	0.05917341	0.11995	0.09994748	0.23881	-10.399	0.76265	D	.	.	0.105	0.19235	B	.;.;.	.;.;.	4.002906	0.59000	24.0	0.9978737026042015	0.87308	0.96305	0.68491	D	AEFBI	0.701814	0.65839	D	0.194244416289756	0.50924	3.277811	0.152286917677565	0.47263	2.959197	0.999999997467479	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.56	5.56	0.83678	5.652000	0.67632	4.017000	0.41215	0.676000	0.76740	0.990000	0.36992	0.999000	0.35428	0.009000	0.08673	0.0:0.0:1.0:0.0	16.254	0.82323	829	0.39537	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1658.68	42	chr1	204261313	.	G	A	1658.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.12;DP=794;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=0.398;SOR=0.722	GT:AD:DP:GQ:PL	0/1:31,27:58:99:689,0,735	18	0	3	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.999	D	0.985	D	0.000	D	0.998	D	1.7	L	0.01	T	-0.652	T	0.334	T	0.955	4.229	22.0	5.98	2.837	2.643	14.830	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2825.06	151	chr1	204444146	.	C	T	2825.06	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-4.450e+00;DP=2570;ExcessHet=7.7275;FS=223.489;InbreedingCoeff=-0.3719;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=1.73;ReadPosRankSum=1.35;SOR=12.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,25:143:99:0|1:204444146_C_T:193,0,3943:204444146	10	0	11	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.985	D	0.000	D	1.000	D	1.005	L	0.14	T	-0.723	T	0.246	T	0.971	3.959	20.3	5.98	2.288	3.844	10.472	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	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	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2	1053.66	151	chr1	204444147	.	A	G	1053.66	.	AC=8;AF=0.200;AN=40;BaseQRankSum=-4.399e+00;DP=2661;ExcessHet=3.5521;FS=172.132;InbreedingCoeff=-0.2533;MLEAC=8;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=1.46;SOR=11.360	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,25:143:99:0|1:204444146_C_T:193,0,3943:204444146	12	0	8	1
chr1	204468995	204468995	A	C	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon2:c.T808G:p.S270A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.027	B	0.073	B	0.217	N	0.999	N	0.895	L	0.12	T	-0.991	T	0.117	T	0.084	2.130	13.08	3.33	0.502	0.710	3.885	0.027	0.0307117418237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.37750	T	0.418	0.14200	T	0.001	0.19556	B	0.006	0.28123	B	0.216713	0.16235	N	0.589346	0.998877	0.21836	N	1.32	0.33002	L	0.12	0.61559	T	-1.08	0.28084	N	0.132	0.12770	-0.9912	0.32295	T	0.117	0.41320	T	10	0.06381911	0.08372	T	0.030712	0.52960	D	0.027	0.05988	0.183	0.09131	0.477373126834	0.47367	0.13578805970338348	0.13502	0.265944137015	0.29141	0.313141226768	0.12382	T	0.080931	0.36480	T	-0.203492	0.20301	T	-0.530078	0.19279	T	0.0820245323467268	0.10244	T	0.660634	0.27067	T	0.04041605	0.05764	0.039221916	0.03965	0.04041605	0.05764	0.039221916	0.03965	-4.159	0.26155	T	.	.	0.055	0.01555	B	.;.	.;.	1.715357	0.21842	15.37	0.98201215693644495	0.39123	0.38345	0.25967	N	AEFDGBHCI	0.163919	0.29025	N	-0.495183972567038	0.22237	1.186007	-0.373671606960268	0.25784	1.420126	0.999914302049206	0.45857	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.35	3.33	0.37245	0.724000	0.25624	3.408000	0.38171	0.756000	0.94297	0.271000	0.25055	1.000000	0.68203	0.985000	0.61073	0.2187:0.0:0.5502:0.2311	3.885	0.08597	609	0.67094	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1870.98	33	chr1	204468995	.	A	C	1870.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.393e+00;DP=887;ExcessHet=0.0000;FS=5.844;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=-1.300e-02;SOR=0.390	GT:AD:DP:GQ:PL	0/1:75,79:154:99:1885,0,2014	20	0	1	0
chr1	206022972	206022972	C	T	exonic	CTSE	.	nonsynonymous SNV	CTSE:NM_001910:exon2:c.G154A:p.D52N	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.998	D	0.935	D	0.004	N	1.000	D	1.81	L	0.73	T	-0.791	T	0.238	T	0.662	1.310	10.29	2.5	0.603	4.022	10.245	0.197	0.00248946556863	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.535e-06	7.525e-06	6.814e-06	8.263e-06	0.0002	4.04e-06	2.96e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.102e-06	0	1.163e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.444	0.16619	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	0.54728	T	-1.1	0.37566	N	0.361	0.43706	.	.	.	.	.	.	.	0.24584544	0.41839	T	.	.	.	.	.	.	.	.	.	0.856838088411859	0.85646	.	.	.	.	.	0.133414	0.46408	T	.	.	.	.	.	.	.	.	.	0.657134	0.26688	T	.	.	.	.	.	.	.	.	-3.558	0.17253	T	.	.	0.099	0.43158	B	.;.	.;.	2.047833	0.26035	16.97	.	.	.	.	.	.	0.556265	0.56637	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.200000	0.42358	3.157000	0.36551	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.612000	0.31691	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	790.98	40	chr1	206022972	.	C	T	790.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.390;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.744;SOR=0.646	GT:AD:DP:GQ:PL	0/1:35,34:69:99:805,0,876	20	0	1	0
chr1	207027504	207027504	C	T	exonic	C1orf116	.	nonsynonymous SNV	C1orf116:NM_023938:exon2:c.G95A:p.R32H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.009	B	0.002	B	0.020	N	1.000	D	-0.49	N	3.18	T	-0.911	T	0.007	T	0.141	0.287	5.553	-0.786	-0.232	-1.053	5.002	0.097	0.00364214630594	7.7e-05	.	1.649e-05	0	0	0.0001	0	0	0	6.058e-05	1.29e-05	2	154602	rs148703566	2.189e-05	2.189e-05	2.178e-05	2.201e-05	0.0003	1.584e-05	1.356e-05	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	2.338e-05	4.967e-05	1.159e-05	1.972e-05	1.97e-05	3.856e-05	0	0.0002	5.24e-06	2.45e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0.0002	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.020069	0.27119	N	0.435447	1	0.81001	D	.	.	.	3.18	0.07478	T	2.14	0.00347	N	0.193	0.21188	-0.9111	0.46719	T	0.007	0.02321	T	10	0.017047793	0.00362	T	0.003642	0.08371	T	0.097	0.27909	.	.	0.0138822411134	0.00435	0.0810618585779209	0.08041	0.0841997091574	0.09501	.	.	.	.	.	.	-0.43501	0.01384	T	-0.69351	0.06189	T	0.131795138120651	0.15547	T	0.620638	0.23835	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.01909	B	.	.	0.218483	0.06011	2.452	0.8438309909195999	0.15259	0.03272	0.08311	N	ALL	0.062733	0.12078	N	-1.01569633262292	0.08277	0.3875521	-0.872675789450181	0.12743	0.6572891	0.999999999999982	0.74766	0.713056	0.82018	0	0.563428	0.19063	0	0.608524	0.38960	0	0.542086	0.14980	0	.	.	5.63	-0.786	0.10394	-0.978000	0.03888	-1.575000	0.05138	-0.813000	0.03045	0.022000	0.19841	0.000000	0.08366	0.964000	0.52637	0.1468:0.258:0.0:0.5952	5.002	0.13613	784	0.47045	.	.	.	.	.	.	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	1	0	0	0	0.02381	675.98	34	chr1	207027504	.	C	T	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.364;DP=761;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.26;ReadPosRankSum=1.49;SOR=0.749	GT:AD:DP:GQ:PL	0/1:45,28:73:99:690,0,1161	20	0	1	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	1.0	D	0.996	D	0.000	D	0.989	D	1.795	L	-0.53	T	-0.381	T	0.393	T	0.433	3.843	19.52	3.55	0.781	1.239	11.901	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2105	1408.15	87	chr1	212100361	.	C	G	1408.15	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.253e+00;DP=2254;ExcessHet=3.5521;FS=100.771;InbreedingCoeff=-0.2600;MLEAC=8;MLEAF=0.211;MQ=60.00;MQRankSum=0.00;QD=1.54;ReadPosRankSum=1.61;SOR=10.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,25:99:99:0|1:212100361_C_G:245,0,2431:212100361	11	0	8	2
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	1.0	D	0.998	D	0.000	D	1.000	D	1.845	L	-0.74	T	-0.175	T	0.536	D	0.259	3.999	20.5	5.41	2.697	4.959	19.553	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1667	1127.66	57	chr1	212100362	.	C	G	1127.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.580e+00;DP=1907;ExcessHet=2.5830;FS=91.638;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.46;ReadPosRankSum=1.70;SOR=10.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,25:99:99:0|1:212100361_C_G:245,0,2431:212100361	14	0	7	0
chr1	215625828	215625828	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon72:c.A15562G:p.S5188G,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1499	22	1	0	24	0.00794176	.	.	57630	Retinal_dystrophy|not_provided|Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_specified|Usher_syndrome	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|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:CN169374|MONDO:MONDO:0019501,MeSH:D052245,MedGen:C0271097,OMIM:PS276900,Orphanet:886	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.06	T	0.911	P	0.31	B	0.000	U	1.000	D	0.975	L	0.93	T	-1.134	T	0.018	T	0.379	3.960	20.3	5.93	2.273	5.773	16.374	0.075	.	0.0025	0.0245607	0.0135	0.0009	0.0022	0.0196	0.0024	0.0032	0.0198	0.0715	0.0123608	1911	154602	rs58257972	0.0092	0.0092	0.0075	0.0108	0.0684	0.0090	0.0090	0.0669	0.0663	0.0007	0.0021	0.0001	0.0493	0.0025	0.0050	0.0042	0.0092	0.0684	0.0060	0.0061	0.0047	0.0074	0.0704	0.0057	0.0056	0.0642	0.0618	0.0011	0	0.0059	0.0006	0.0293	0.0043	0.0034	0.0034	0.0052	0.0704	0.065	0.36310	T	0.013	0.63109	D	0.911	0.50336	P	0.31	0.41396	B	0.000104	0.50451	U	0.000000	0.999899	0.50595	D	2.595	0.75868	M	0.93	0.44065	T	-1.7	0.40468	N	0.128	0.12198	-1.1337	0.01613	T	0.018	0.07423	T	10	0.0023053288	0.00034	T	.	.	.	0.075	0.21907	.	.	.	.	0.18076143519848317	0.17995	0.0650604241085	0.07269	0.494169771671	0.38018	T	0.107218	0.41923	T	-0.472138	0.00824	T	-0.382426	0.35439	T	0.022767670427268	0.00996	T	0.821518	0.48098	T	0.19535062	0.41321	0.18983269	0.42352	0.18540062	0.39901	0.18322101	0.41297	-3.989	0.23639	T	0.6026391723891807	0.66976	0.106	0.19518	B	.	.	2.941184	0.39102	20.9	0.99604025306166655	0.74397	0.96956	0.71866	D	AEFBI	0.842606	0.75970	D	0.378480076214184	0.60259	4.212758	0.48065607982663	0.66710	4.987552	0.905040445356246	0.26194	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	5.553000	0.66992	7.865000	0.71651	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.374	0.83208	685	0.59416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	673.98	34	chr1	215625828	.	T	C	673.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.377e+00;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.72;ReadPosRankSum=-1.463e+00;SOR=0.756	GT:AD:DP:GQ:PL	0/1:22,31:53:99:688,0,559	20	0	1	0
chr1	215634680	215634680	T	C	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon70:c.A15076G:p.K5026E,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1499	22	1	0	24	0.00794176	.	.	57615	Retinitis_pigmentosa_39|Usher_syndrome_type_2A|Retinal_dystrophy|not_specified|not_provided	MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|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:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.075	N	1.000	N	-1.7	N	2.71	T	-0.943	T	0.001	T	0.087	-1.556	0.015	3.88	0.340	1.632	8.328	0.050	.	0.0018	0.024361	0.0134	0.0009	0.0022	0.0196	0.0024	0.0032	0.0198	0.0710	0.0122508	1894	154602	rs41308435	0.0092	0.0092	0.0075	0.0108	0.0680	0.0090	0.0090	0.0666	0.0660	0.0007	0.0021	0.0001	0.0493	0.0025	0.0050	0.0042	0.0092	0.0680	0.0061	0.0061	0.0048	0.0075	0.0711	0.0058	0.0056	0.0649	0.0625	0.0011	0	0.0060	0.0006	0.0295	0.0043	0.0034	0.0034	0.0052	0.0711	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.075450	0.21222	N	0.326339	1	0.08975	N	-2.045	0.00177	N	2.71	0.12055	T	1.0	0.01408	N	0.062	0.03392	-0.9425	0.42218	T	0.001	0.00467	T	10	0.0022268891	0.00032	T	.	.	.	0.050	0.13987	.	.	.	.	0.12961984811485416	0.12886	0.0363797811208	0.03848	0.239362895489	0.02733	T	0.016122	0.13389	T	-0.723188	0.00026	T	-0.758937	0.03151	T	0.00052410150990314	0.00004	T	0.145985	0.01199	T	0.0670068	0.14472	0.06250987	0.12239	0.0670068	0.14471	0.06250987	0.12239	-2.602	0.06519	T	0.03787707487418605	0.00266	0.048	0.00084	B	.	.	1.017175	0.13964	10.53	0.49181202070686508	0.04166	0.00117	0.00738	N	AEFBI	0.026096	0.01899	N	-1.37015618602642	0.02921	0.1297333	-1.20933016884109	0.05759	0.2753165	0.00473843210645551	0.10692	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.82	3.88	0.43959	1.718000	0.37622	2.654000	0.33835	-0.171000	0.11205	0.080000	0.22340	0.027000	0.21108	0.108000	0.18652	0.0:0.628:0.241:0.131	8.328	0.31330	677	0.60274	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1731.98	34	chr1	215634680	.	T	C	1731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.534e+00;DP=825;ExcessHet=0.0000;FS=4.180;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.664e+00;SOR=1.067	GT:AD:DP:GQ:PL	0/1:69,70:139:99:1746,0,1764	20	0	1	0
chr1	215648567	215648567	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_206933:exon66:c.G14543A:p.R4848Q,	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	0	1505	16	1	0	18	0.00594452	.	.	57606	Retinal_dystrophy|Retinitis_pigmentosa_39|Usher_syndrome_type_2A|not_specified|not_provided	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|MONDO:MONDO:0013436,MedGen:C3151138,OMIM:613809,Orphanet:791|MONDO:MONDO:0010169,MedGen:C1848634,OMIM:276901,Orphanet:231178,Orphanet:886|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.0	B	0.108	N	1.000	N	-1.32	N	0.43	T	-1.039	T	0.007	T	0.055	-0.667	1.081	1.99	0.073	1.507	5.286	0.072	.	0.0027	0.0223642	0.0122	0.0011	0.0020	0.0200	0.0024	0.0033	0.0198	0.0621	0.0111965	1731	154602	rs77211159	0.0087	0.0087	0.0072	0.0101	0.0597	0.0086	0.0085	0.0583	0.0578	0.0008	0.0021	0.0002	0.0506	0.0025	0.0043	0.0043	0.0083	0.0597	0.0059	0.0059	0.0047	0.0071	0.0633	0.0056	0.0054	0.0575	0.0552	0.0012	0	0.0060	0.0006	0.0294	0.0043	0.0034	0.0035	0.0052	0.0633	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.108214	0.19537	N	0.364019	0.999895	0.19781	N	-1.505	0.00499	N	0.43	0.56772	T	1.07	0.01280	N	0.038	0.01203	-1.0393	0.17526	T	0.007	0.02558	T	10	0.008491486	0.00192	T	.	.	.	0.072	0.21020	.	.	.	.	0.15417584724155026	0.15338	0.0324909400242	0.03394	0.237938925624	0.02608	T	0.018955	0.15187	T	-0.664184	0.00059	T	-0.658287	0.08382	T	0.00136844069469266	0.00014	T	0.383762	0.09387	T	0.016000781	0.00170	0.028994076	0.01190	0.016000781	0.00170	0.028994076	0.01189	-1.964	0.03048	T	0.034580702510101174	0.00171	0.056	0.00428	B	.	.	1.084955	0.14682	11.24	0.31995859724849318	0.01831	0.03042	0.07933	N	AEFBI	0.049871	0.08659	N	-0.979324753786118	0.09046	0.4265282	-0.769382210095482	0.15247	0.8009201	0.00109332590400276	0.08217	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.63	1.99	0.25423	1.546000	0.35787	-0.196000	0.10991	-0.673000	0.04287	1.000000	0.71638	0.046000	0.21717	0.014000	0.10232	0.1204:0.2006:0.0:0.6789	5.286	0.15010	671	0.60868	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	1	0	0.02381	2179.98	42	chr1	215648567	.	C	T	2179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=868;ExcessHet=0.0000;FS=1.941;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-2.790e-01;SOR=0.867	GT:AD:DP:GQ:PL	0/1:78,85:163:99:2194,0,1843	20	0	1	0
chr1	216232115	216232115	T	G	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon14:c.A2831C:p.N944T	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.03	B	0.03	B	0.005	N	1.000	N	2.46	M	0.17	T	-0.879	T	0.176	T	0.091	0.990	9.041	-0.657	-0.302	0.159	8.036	0.101	0.0253921193833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.31235	T	0.238	0.24549	T	0.002	0.20002	B	0.012	0.21741	B	0.004797	0.33389	N	0.134780	1	0.08975	N	2.035	0.55589	M	0.17	0.60485	T	-1.34	0.44094	N	0.222	0.26717	-0.8787	0.49864	T	0.176	0.52006	T	10	0.14085555	0.26770	T	0.025392	0.48361	D	0.101	0.28911	0.469	0.54214	0.768516534249	0.76639	0.2809210607673612	0.28005	0.0327223876273	0.03419	0.288145601749	0.08653	T	0.079824	0.36220	T	-0.22353	0.17514	T	-0.558862	0.16483	T	0.171943739056587	0.18711	T	0.626037	0.24205	T	0.060056146	0.12279	0.074403785	0.16272	0.060056146	0.12279	0.074403785	0.16271	-4.52	0.33197	T	0.5244025356249031	0.59618	0.134	0.29172	B	.;.	.;.	1.247891	0.16441	12.54	0.93327410644957332	0.23050	0.09536	0.15270	N	AEFI	0.088211	0.17884	N	-1.00810160790635	0.08435	0.3954789	-1.0426614768163	0.08860	0.4377587	1.23401624879354E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.91	-0.657	0.10858	0.164000	0.16359	-0.059000	0.12448	-0.118000	0.14412	0.024000	0.20007	0.069000	0.22184	0.970000	0.54328	0.0:0.4535:0.1218:0.4247	8.036	0.29651	896	0.25515	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	975.98	34	chr1	216232115	.	T	G	975.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.786e+00;DP=782;ExcessHet=0.0000;FS=2.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-4.620e-01;SOR=1.276	GT:AD:DP:GQ:PL	0/1:35,34:69:99:990,0,1005	20	0	1	0
chr1	216292310	216292310	C	T	exonic	USH2A	.	nonsynonymous SNV	USH2A:NM_007123:exon10:c.G1705A:p.A569T	Retinitis pigmentosa 39;Usher syndrome, type 2A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1926028	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.669	P	0.077	B	0.001	U	1.000	D	1.975	M	-0.06	T	-0.657	T	0.200	T	0.589	3.001	16.01	4.81	2.230	0.885	17.901	0.225	0.0527405096925	7.7e-05	.	8.242e-06	9.612e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs138739049	6.841e-06	6.84e-06	6.807e-06	6.876e-06	8.094e-06	3.46e-06	2.52e-06	3.81e-06	2.76e-06	0	0	0	0	1.872e-05	0	8.094e-06	0	0	6.576e-06	6.568e-06	1.286e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.104	0.32141	T	0.005	0.72224	D	0.669	0.41149	P	0.039	0.28532	B	0.000801	0.41772	U	0.000000	0.999998	0.58761	D	1.565	0.39561	L	-0.06	0.63568	T	-1.57	0.43334	N	0.234	0.29544	-0.6567	0.62421	T	0.200	0.55640	T	10	0.22480741	0.39294	T	0.052741	0.65193	D	0.225	0.52323	.	.	0.867388827334	0.86610	0.6568411483357168	0.65621	0.0341533240983	0.03587	0.285699129105	0.08299	T	0.080422	0.36360	T	-0.158661	0.26966	T	-0.284154	0.46377	T	0.72335284948349	0.41869	D	0.759724	0.39073	T	0.11999049	0.28243	0.11900778	0.28726	0.11999049	0.28243	0.11900778	0.28725	-6.546	0.50640	T	.	.	0.084	0.17146	B	.;.	.;.	1.616012	0.20643	14.84	0.99581357441269125	0.73040	0.51326	0.28870	D	AEFI	0.259523	0.37785	N	-0.171052695026178	0.34344	1.959113	-0.1621062230962	0.32944	1.879432	0.0653599225727115	0.15358	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.81	4.81	0.61401	0.811000	0.26855	0.335000	0.17323	0.549000	0.26987	0.303000	0.25352	0.020000	0.20764	0.998000	0.85391	0.0:1.0:0.0:0.0	17.901	0.88821	855	0.34697	Laminin EGF domain|Laminin EGF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1640.98	34	chr1	216292310	.	C	T	1640.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=802;ExcessHet=0.0000;FS=4.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=-2.280e-01;SOR=1.209	GT:AD:DP:GQ:PL	0/1:51,61:112:99:1655,0,1237	20	0	1	0
chr1	220141933	220141933	A	C	exonic	IARS2	.	nonsynonymous SNV	IARS2:NM_018060:exon20:c.A2545C:p.I849L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.042	N	1.000	N	-0.785	N	3.16	T	-0.967	T	0.006	T	0.147	0.240	5.294	-5.46	-0.759	0.129	9.481	0.049	0.00204330059489	.	.	8.26e-06	0	0	0	0	0	0	6.137e-05	6.5e-06	1	154602	rs765929786	5.474e-06	5.472e-06	6.808e-06	4.127e-06	0.0002	2.36e-06	1.7e-06	6.512e-05	4.45e-05	0	0	0	0.0002	0	0	0	1.656e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.04316	T	0.0	0.02946	B	0.001	0.04355	B	0.042166	0.23870	N	0.478782	0.999949	0.19238	N	-0.645	0.02107	N	.	.	.	.	.	.	0.271	0.30687	-0.9674	0.37733	T	0.006	0.01907	T	10	0.061078817	0.07602	T	0.002043	0.03721	T	0.049	0.13647	0.456	0.52102	0.20549828249	0.20151	0.3065101904415635	0.30564	.	.	0.351102918386	0.18084	T	0.019057	0.15254	T	-0.291561	0.09481	T	-0.555954	0.16759	T	0.0237581866797563	0.01115	T	0.640436	0.25296	T	0.04186439	0.06245	0.035385817	0.02781	0.04186439	0.06244	0.035385817	0.02780	-0.199	0.00427	T	.	.	0.057	0.00593	B	.	.	0.971672	0.13488	9.999	0.73890660491576021	0.10493	0.45275	0.27502	N	AEFBI	0.201397	0.32806	N	-1.27092078131851	0.04030	0.1811457	-1.19485991781488	0.05995	0.2872592	0.0799341164611478	0.15831	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.43	-5.46	0.02404	0.129000	0.15656	0.149000	0.15269	0.756000	0.94297	0.943000	0.32764	0.026000	0.21063	0.773000	0.36634	0.4972:0.3719:0.1309:0.0	9.481	0.38067	545	0.72614	Methionyl/Valyl/Leucyl/Isoleucyl-tRNA synthetase, anticodon-binding|Isoleucyl tRNA synthetase type 1, anticodon-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	917.98	34	chr1	220141933	.	A	C	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=805;ExcessHet=0.0000;FS=0.820;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-6.930e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:53,37:90:99:932,0,1405	20	0	1	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S,	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.918	P	0.243	B	0.000	D	0.990	D	0.83	L	1.55	T	-1.120	T	0.056	T	0.262	3.544	18.08	5.73	2.861	6.815	20.260	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	372.12	113	chr1	220154029	.	G	C	372.12	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-2.626e+00;DP=1942;ExcessHet=7.7275;FS=214.208;InbreedingCoeff=-0.3437;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=-8.540e-01;SOR=12.523	GT:AD:DP:GQ:PL	0/1:37,16:55:11:11,0,501	10	0	11	0
chr1	225514708	225514708	G	A	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995T:p.A332V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.997	D	0.97	D	0.003	N	1.000	D	1.995	M	1.96	T	0.348	D	0.643	D	0.677	4.366	23.0	5.21	2.430	8.082	18.735	0.233	0.112320486811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.797e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.048	0.50514	D	0.997	0.70673	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999596	0.58761	D	2.275	0.64647	M	-0.04	0.63240	T	-1.67	0.39887	N	0.63	0.64393	0.348	0.88309	D	0.643	0.87528	D	10	0.4695522	0.59778	T	0.11232	0.79042	D	0.233	0.53499	0.104	0.01698	0.612357999405	0.60923	0.16674359625552354	0.16594	0.92458102789	0.71591	0.674778223038	0.63520	T	0.277514	0.65013	T	0.133822	0.67732	D	-0.0455502	0.67325	D	0.946237564086914	0.62427	D	0.848015	0.53747	T	0.17252353	0.37948	0.16418302	0.38047	0.17252353	0.37948	0.16418302	0.38046	-10.699	0.78566	D	.	.	0.227	0.48510	B	.;.;.	.;.;.	4.298915	0.65622	24.9	0.99888774019022097	0.96359	0.99573	0.97585	D	AEFDBI	0.882683	0.81099	D	0.729987147899231	0.81600	7.559994	0.719044094803892	0.83827	8.124527	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	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	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:71,22,8:101:32:32,0,1113,189,1244,3062	3	0	12	4
chr1	225514708	225514708	G	C	exonic	ENAH	.	nonsynonymous SNV	ENAH:NM_001377483:exon6:c.C995G:p.A332G	.	.	425	1069	28	0	0	28	0.0129271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.994	D	0.97	D	0.003	N	1.000	D	2.545	M	1.97	T	0.305	D	0.679	D	0.661	4.523	24.4	5.21	2.430	8.082	18.735	0.251	0.134379640135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0006	0.0002	0.0001	0.0002	0.0002	0.0001	0.0002	0.0002	9.689e-05	2.258e-05	3.953e-05	2.59e-05	0	0	0.0002	0.0001	7.146e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.183	0.39340	T	0.994	0.66517	D	0.97	0.72226	D	0.003271	0.35183	N	0.226742	0.999496	0.58761	D	2.62	0.76659	M	-0.04	0.63240	T	-1.88	0.43906	N	0.603	0.62950	0.305	0.87637	D	0.679	0.88907	D	10	0.44018695	0.58051	T	0.13438	0.81681	D	0.251	0.56024	0.122	0.02867	0.652436559791	0.64954	0.11579549220610402	0.11507	0.929717523318	0.71774	0.644413113594	0.59191	T	0.218669	0.58146	T	0.124294	0.66801	D	-0.0592364	0.66386	T	0.932058036327362	0.59784	D	0.871513	0.63166	D	0.18916725	0.40447	0.18597509	0.41743	0.18916725	0.40446	0.18597509	0.41742	-9.88	0.74330	D	.	.	0.252	0.51900	B	.;.;.	.;.;.	4.037834	0.59751	24.1	0.99785765454140729	0.87219	0.99631	0.98164	D	AEFDBI	0.890935	0.82643	D	0.742122182897517	0.82390	7.750937	0.716777429846324	0.83653	8.078442	0.999999999997317	0.74766	0.651	0.46895	0	0.59043	0.45803	0	0.693117	0.63056	0	0.683762	0.67416	0	.	.	5.21	5.21	0.72005	8.455000	0.90207	11.320000	0.92525	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	18.735	0.91713	679	0.60090	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	1135.81	96	chr1	225514708	.	G	A,C	1135.81	.	AC=12,2;AF=0.353,0.059;AN=34;BaseQRankSum=-2.271e+00;DP=1826;ExcessHet=14.4320;FS=241.820;InbreedingCoeff=-0.6100;MLEAC=13,2;MLEAF=0.382,0.059;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.733;SOR=12.218	GT:AD:DP:GQ:PL	0/1:71,22,8:101:32:32,0,1113,189,1244,3062	3	0	12	4
chr1	225519349	225519349	-	TCCAGGCGTTCCTGCCGC	exonic	ENAH	.	nonframeshift insertion	ENAH:NM_001008493:exon5:c.650_651insGCGGCAGGAACGCCTGGA:p.L222_D223insERQERL	.	.	438	957	106	11	10	138	0.0626836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	5434.36	33	chr1	225519331	.	ATCCAGGCGTTCCTGCCGC	ATCCAGGCGTTCCTGCCGCTCCAGGCGTTCCTGCCGC,A	5434.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-4.580e-01;DP=1490;ExcessHet=0.3300;FS=3.132;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.11;ReadPosRankSum=-1.450e+00;SOR=0.531	GT:AD:DP:GQ:PL	0/1:31,34,0:65:99:1205,0,1107,1312,1208,2520	18	0	1	0
chr1	225839874	225839874	C	A	exonic	EPHX1	.	nonsynonymous SNV	EPHX1:NM_001378431:exon5:c.C540A:p.N180K	Diphenylhydantoin toxicity (1);Hypercholanemia, familial	.	0	1514	8	0	0	8	0.00263505	.	.	3209078	EPHX1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.093	B	0.079	B	0.564	N	1.000	N	0.765	N	0.1	T	-0.919	T	0.089	T	0.041	-0.500	1.707	-7.23	-0.943	0.234	12.452	0.175	0.0580463014946	0.0005	0.000798722	0.0010	0.0004	0.0002	0	0.0003	0.0012	0	0.0016	0.0008538	132	154602	rs56300109	0.0006	0.0006	0.0005	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	0.0002	0.0004	3.826e-05	0	3.744e-05	0.0026	0.0006	0.0007	0.0015	0.0006	0.0006	0.0006	0.0006	0.0012	0.0005	0.0004	0.0008	0.0007	0.0001	0	0.0006	0	0	9.409e-05	0	0.0010	0.0005	0.0012	0.942	0.02186	T	0.941	0.02685	T	0.093	0.25333	B	0.079	0.28749	B	0.563827	0.11309	N	0.817193	1	0.08975	N	0.135	0.08676	N	0.1	0.61326	T	-0.21	0.10308	N	0.223	0.25006	-0.9192	0.45662	T	0.089	0.34381	T	10	0.009513944	0.00214	T	0.058046	0.67180	D	0.175	0.44197	0.68	0.81788	0.571728244252	0.56839	0.4982620954507305	0.49747	0.265673723044	0.29123	0.362915426493	0.19810	T	0.076948	0.35540	T	-0.606885	0.00132	T	-0.651	0.08885	T	0.00490997559517918	0.00053	T	0.514149	0.16548	T	0.031033054	0.02870	0.032764405	0.02064	0.031033054	0.02870	0.032764405	0.02063	-1.995	0.03162	T	.	.	0.229	0.46191	B	.;.;.	.;.;.	-0.155606	0.03325	0.581	0.49544032024821694	0.04228	0.25288	0.22654	N	AEFBCI	0.697441	0.65544	D	-1.54074626661922	0.01589	0.06944591	-1.61978530813967	0.01539	0.06974272	0.954650930170431	0.28144	0.706548	0.73137	0	0.550933	0.16991	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.32	-7.23	0.01331	0.518000	0.22554	-1.522000	0.05251	-0.362000	0.05498	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1592:0.619:0.0:0.2218	12.452	0.55019	637	0.64373	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1177.98	33	chr1	225839874	.	C	A	1177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.57;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.610e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:58,45:103:99:1192,0,1413	20	0	1	0
chr1	225988203	225988203	T	C	exonic	SDE2	.	nonsynonymous SNV	SDE2:NM_152608:exon6:c.A827G:p.H276R,	.	.	427	1042	52	1	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.0	B	0.0	B	0.148	N	1.000	N	0	N	1.02	T	-1.064	T	0.031	T	0.039	-0.345	2.370	-5.89	-1.523	-0.801	3.857	0.004	.	0.0086	0.00579073	0.0077	0.0053	0.0058	0	0.0018	0.0090	0.0122	0.0117	0.007529	1164	154602	rs41268719	0.0088	0.0088	0.0086	0.0089	0.0321	0.0086	0.0086	0.0283	0.0268	0.0077	0.0067	0.0189	5.038e-05	0.0022	0.0321	0.0088	0.0102	0.0124	0.0078	0.0078	0.0079	0.0077	0.0101	0.0074	0.0073	0.0081	0.0079	0.0065	0.0088	0.0093	0.0222	0	0.0011	0.0238	0.0087	0.0137	0.0101	0.307	0.14159	T	0.548	0.09489	T	0.0	0.02946	B	0.0	0.01387	B	0.147789	0.02938	N	1.557430	1	0.08975	N	0	0.06538	N	1.02	0.40749	T	0.2	0.04861	N	0.061	0.03283	-1.0637	0.10855	T	0.031	0.13330	T	10	0.002553016	0.00039	T	.	.	.	0.004	0.00165	.	.	0.101711395817	0.09552	0.047153908634088824	0.04658	0.218815070265	0.24419	0.195133239031	0.00329	T	0.001554	0.00995	T	-0.708939	0.00032	T	-0.780087	0.02450	T	0.002145647428267	0.00022	T	0.120588	0.00931	T	0.019646542	0.00500	0.022527758	0.00275	0.019646542	0.00500	0.022527758	0.00275	-2.56	0.06205	T	.	.	0.060	0.00890	B	.	.	-0.802183	0.01102	0.050	0.10180873463326895	0.00122	0.07098	0.13124	N	AEFDBCI	0.035649	0.04624	N	-2.26443823681653	0.00055	0.002349059	-2.25596343358124	0.00084	0.003677418	0.999806860516576	0.43304	0.706548	0.73137	0	0.779548	0.99637	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.57	-5.89	0.02093	-0.785000	0.04735	-1.633000	0.05020	-1.597000	0.00898	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.243:0.2402:0.4357:0.0811	3.857	0.08487	754	0.51307	.	H3F3A	Colon_Transverse	.	.	.	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	0.04762	4596.11	33	chr1	225988203	.	T	C	4596.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.331e+00;DP=1034;ExcessHet=0.1072;FS=0.378;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=1.04;SOR=0.662	GT:AD:DP:GQ:PL	0/1:78,87:165:99:2149,0,2083	19	0	2	0
chr1	226548933	226548933	C	G	exonic	STUM	.	nonsynonymous SNV	STUM:NM_001003665:exon1:c.C29G:p.T10R,	.	.	313	1206	1	0	2	3	0.000414422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.002	B	0.001	B	0.018	U	0.932	N	0	N	.	.	-1.050	T	0.047	T	0.289	1.964	12.52	3.01	1.500	1.425	8.534	0.038	0.265910485421	.	0.000399361	0.0030	0	0	0	0	0	0	0.0042	9.7e-05	15	154602	rs546139392	7.645e-05	8.165e-05	4.259e-05	0.0001	0.0015	6.385e-05	5.93e-05	0.0013	0.0012	4.121e-05	0	0	0	0	0	0	0.0001	0.0015	7.255e-05	7.232e-05	5.16e-05	9.446e-05	0.0015	3.986e-05	3.138e-05	0.0007	0.0005	9.66e-05	0	0	0	0	0	0	0	0	0.0015	0.194	0.20912	T	0.259	0.23097	T	0.002	0.09854	B	0.001	0.04355	B	0.018220	0.27535	U	0.235563	0.932311	0.27024	N	0	0.06538	N	.	.	.	0.21	0.05035	N	0.142	0.15328	-1.0500	0.14397	T	0.047	0.19998	T	9	0.0049435496	0.00106	T	0.26591	0.89691	D	0.038	0.09825	0.213	0.13210	0.159798565429	0.15598	0.7853237293404531	0.78483	1.14904947496	0.79149	.	.	.	0.004229	0.03640	T	-0.167066	0.25678	T	-0.477755	0.24685	T	0.0869769183982122	0.10855	T	0.641836	0.25394	T	0.14611104	0.33462	0.2264425	0.47622	0.14611104	0.33462	0.2264425	0.47621	-4.047	0.24504	T	.	.	0.133	0.28835	B	.;.	.;.	3.102563	0.41819	21.4	0.98342854829262727	0.40457	0.36162	0.25469	N	AEFDBI	0.079869	0.16139	N	-0.593333805983336	0.19145	0.9997695	-0.444126530836074	0.23715	1.294787	0.999925922865785	0.46280	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.01	3.01	0.33872	1.164000	0.31420	5.005000	0.46626	0.251000	0.18332	0.696000	0.28588	1.000000	0.68203	0.834000	0.39329	0.0:0.6663:0.3336:0.0	8.534	0.32512	612	0.66786	.;.	.	.	.	.	.	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	0.02381	685.98	39	chr1	226548933	.	C	G	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=776;ExcessHet=0.0000;FS=3.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=0.297;SOR=0.362	GT:AD:DP:GQ:PL	0/1:34,28:62:99:700,0,857	20	0	1	0
chr1	228340597	228340597	T	C	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon71:c.T17507C:p.V5836A	.	.	0	1497	25	0	0	25	0.00828089	.	.	732236	not_provided|OBSCN-related_disorder|not_specified	MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.625	P	0.339	B	0.003	N	0.998	D	1.04	L	1.39	T	-0.989	T	0.087	T	0.28	4.034	20.7	5.05	2.131	7.234	14.954	0.225	.	0.0007	0.00279553	0.0043	0.0003	0.0007	0	0	0.0014	0.0087	0.0158	0.00163	252	154602	rs200917956	0.0011	0.0011	0.0007	0.0014	0.0120	0.0010	0.0010	0.0114	0.0112	0	0.0006	0.0076	2.598e-05	0	0.0051	0.0002	0.0017	0.0120	0.0007	0.0007	0.0006	0.0009	0.0104	0.0006	0.0006	0.0081	0.0073	0.0001	0	0.0002	0.0061	0	0	0.0034	0.0004	0.0009	0.0104	0.007	0.63226	D	0.003	0.79402	D	0.571	0.40054	P	0.229	0.42346	B	0.002719	0.36068	N	0.170242	0.972961	0.44438	D	1.525	0.38595	L	1.39	0.33842	T	-2.92	0.62630	D	0.521	0.55106	-0.9888	0.32903	T	0.087	0.33802	T	10	0.011073947	0.00244	T	.	.	.	0.225	0.52323	.	.	0.565281569661	0.56191	0.5714366766659984	0.57071	0.306001842238	0.32896	0.508028149605	0.39947	T	0.225008	0.58962	T	-0.458175	0.01009	T	-0.420525	0.31016	T	0.0389036189833558	0.03493	T	0.809319	0.45944	T	0.28434536	0.51462	0.41967225	0.65953	0.4140542	0.61694	0.42326257	0.66202	-8.309	0.63156	D	.	.	0.631	0.70162	P	.;.;.;.;.	.;.;.;.;.	2.845605	0.37553	20.5	0.86377097821018733	0.16495	0.98232	0.80766	D	AEFDBCI	0.796990	0.72396	D	0.0357954173428836	0.43489	2.640882	0.0543666899548929	0.42283	2.554841	0.999999995789636	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.05	5.05	0.67566	5.576000	0.67135	7.802000	0.69178	0.661000	0.55757	1.000000	0.71638	0.993000	0.31925	0.060000	0.15972	0.0:0.0:0.0:1.0	14.954	0.70748	436	0.80373	.;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;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) 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	0.04762	942.11	33	chr1	228340597	.	T	C	942.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.67;DP=759;ExcessHet=0.1072;FS=1.765;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.844;SOR=0.901	GT:AD:DP:GQ:PL	0/1:37,23:60:99:624,0,1052	19	0	2	0
chr1	236032500	236032500	C	T	exonic	NID1	.	nonsynonymous SNV	NID1:NM_002508:exon6:c.G1438A:p.V480I,	.	.	427	1094	1	0	0	1	0.00045683	.	.	2438287	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.029	B	0.078	B	0.044	N	1.000	N	0.04	N	1.83	T	-1.013	T	0.024	T	0.043	0.943	8.843	-0.5	-0.086	-0.012	2.904	0.042	0.0121290535012	7.7e-05	.	3.295e-05	9.612e-05	0	0	0	2.997e-05	0	6.056e-05	2.59e-05	4	154602	rs141367396	1.505e-05	1.505e-05	1.77e-05	1.238e-05	0.0005	9.85e-06	8.41e-06	0.0001	7.544e-05	0.0001	4.472e-05	0	0	0	0.0005	8.993e-06	3.311e-05	1.159e-05	1.314e-05	1.313e-05	2.57e-05	0	6.543e-05	2.18e-06	8.2e-07	.	.	0	0	6.543e-05	0	0	0	0	1.47e-05	0	0	0.061	0.37118	T	0.688	0.05958	T	0.0	0.19866	B	0.002	0.28627	B	0.044315	0.23651	N	0.450948	1	0.08975	N	1.005	0.25186	L	1.83	0.24841	T	-0.5	0.16393	N	0.111	0.09772	-1.0128	0.26038	T	0.024	0.10058	T	10	0.17090753	0.31780	T	0.012129	0.30425	T	0.042	0.11227	.	.	0.151104730317	0.14643	0.1883839093394412	0.18756	0.178288388966	0.20060	0.275155842304	0.06827	T	0.047628	0.27779	T	-0.483835	0.00703	T	-0.7358	0.04070	T	0.0160827897489071	0.00386	T	0.687331	0.29630	T	0.017428745	0.00272	0.021922024	0.00229	0.017428745	0.00272	0.021922024	0.00229	-4.269	0.33549	T	0.13688126116394922	0.15010	0.071	0.04041	B	.;.	.;.	0.491608	0.08608	5.377	0.94191179102720435	0.24419	0.08153	0.14117	N	AEFBI	0.106967	0.21326	N	-1.19169790507317	0.05125	0.2328921	-1.15059262477274	0.06757	0.3263488	9.51350585815072E-5	0.04910	0.706298	0.61202	0	0.708844	0.79440	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.87	-0.5	0.11412	0.009000	0.13117	-1.317000	0.05732	-0.148000	0.12190	0.003000	0.16062	0.000000	0.08366	0.337000	0.25363	0.1542:0.5358:0.1395:0.1705	2.904	0.05364	475	0.77788	.;G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F|G2 nidogen/fibulin G2F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1301.98	35	chr1	236032500	.	C	T	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.330e-01;DP=791;ExcessHet=0.0000;FS=1.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=0.657;SOR=0.924	GT:AD:DP:GQ:PL	0/1:43,51:94:99:1316,0,1116	20	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	10864.06	96	chr1	240207634	.	G	C,*	10864.06	.	AC=9,1;AF=0.225,0.025;AN=40;BaseQRankSum=0.439;DP=1592;ExcessHet=1.5138;FS=0.581;InbreedingCoeff=-0.0794;MLEAC=9,1;MLEAF=0.225,0.025;MQ=59.94;MQRankSum=0.00;QD=12.25;ReadPosRankSum=-1.210e-01;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,50,0:92:99:0|1:240207634_G_C:1932,0,1614,2059,1764,3823:240207634	11	1	7	1
chr1	240207641	240207641	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	570	612	17	0	323	340	0.0136986	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	12956.77	99	chr1	240207641	.	T	C,*	12956.77	.	AC=10,2;AF=0.238,0.048;AN=42;BaseQRankSum=0.528;DP=1591;ExcessHet=3.2961;FS=0.558;InbreedingCoeff=-0.1667;MLEAC=10,2;MLEAF=0.238,0.048;MQ=59.90;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.299;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,49,0:94:99:0|1:240207634_G_C:1892,0,1742,2027,1890,3917:240207634	10	1	8	0
chr1	240207775	240207775	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	746	721	41	8	6	63	0.0380254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	5665.43	76	chr1	240207775	.	C	T,*	5665.43	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=0.155;DP=1288;ExcessHet=0.1504;FS=0.973;InbreedingCoeff=0.0933;MLEAC=6,1;MLEAF=0.214,0.036;MQ=55.45;MQRankSum=2.61;QD=21.46;ReadPosRankSum=0.00;SOR=0.766	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,61,0:81:99:0|1:240207775_C_T:2319,0,641,2379,823,3202:240207775	9	1	3	7
chr1	240207785	240207785	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6200.34	61	chr1	240207785	.	A	T,*	6200.34	.	AC=6,1;AF=0.214,0.036;AN=28;BaseQRankSum=0.505;DP=1124;ExcessHet=0.3860;FS=0.432;InbreedingCoeff=0.0463;MLEAC=8,1;MLEAF=0.286,0.036;MQ=54.15;MQRankSum=1.73;QD=18.13;ReadPosRankSum=0.388;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,50,0:71:99:0|1:240207775_C_T:2033,0,715,2096,865,2962:240207775	8	1	4	7
chr1	240207806	240207806	C	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1124	331	37	24	6	91	0.113788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	6284.06	46	chr1	240207806	.	C	T,*	6284.06	.	AC=10,1;AF=0.357,0.036;AN=28;BaseQRankSum=0.800;DP=850;ExcessHet=4.1217;FS=8.259;InbreedingCoeff=-0.1533;MLEAC=13,1;MLEAF=0.464,0.036;MQ=50.66;MQRankSum=0.217;QD=15.95;ReadPosRankSum=0.00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,41,0:59:99:0|1:240207775_C_T:1667,0,632,1722,756,2477:240207775	4	1	8	7
chr1	240207812	240207812	G	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1181	328	2	3	8	16	0.0120482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	5214.49	31	chr1	240207812	.	G	T,A,*	5214.49	.	AC=11,3,1;AF=0.306,0.083,0.028;AN=36;BaseQRankSum=0.227;DP=776;ExcessHet=1.2994;FS=0.000;InbreedingCoeff=0.0004;MLEAC=12,3,1;MLEAF=0.333,0.083,0.028;MQ=50.73;MQRankSum=1.59;QD=13.61;ReadPosRankSum=-1.507e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:5,10,40,0:55:99:.:.:1796,1470,1649,146,0,299,1822,1680,392,2060	6	1	7	3
chr1	240207818	240207818	A	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1172	344	5	0	1	6	0.00721501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2333	2505.01	36	chr1	240207818	.	A	T,*	2505.01	.	AC=6,1;AF=0.200,0.033;AN=30;BaseQRankSum=1.26;DP=723;ExcessHet=0.3441;FS=4.214;InbreedingCoeff=0.0526;MLEAC=6,1;MLEAF=0.200,0.033;MQ=49.66;MQRankSum=1.36;QD=13.05;ReadPosRankSum=0.284;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,33,0:49:99:0|1:240207775_C_T:1338,0,556,1386,656,2041:240207775	9	1	4	6
chr1	240207821	240207821	T	0	exonic	FMN2	.	.	.	Mental retardation, autosomal recessive 47, Autosomal recessive	.	1088	429	4	0	1	5	0.00464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1923.71	37	chr1	240207821	.	T	A,*	1923.71	.	AC=3,1;AF=0.094,0.031;AN=32;BaseQRankSum=-2.530e-01;DP=762;ExcessHet=0.7564;FS=4.519;InbreedingCoeff=-0.1829;MLEAC=4,1;MLEAF=0.125,0.031;MQ=50.40;MQRankSum=2.47;QD=11.38;ReadPosRankSum=-2.080e-01;SOR=1.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,38,0:54:99:0|1:240207775_C_T:1265,0,554,1314,656,1969:240207775	12	0	3	5
chr1	246850179	246850179	C	G	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.G5827C:p.V1943L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.4	B	0.052	B	0.571	N	1.000	N	1.245	L	1.49	T	-1.026	T	0.052	T	0.097	0.958	8.909	0.015	0.083	-0.093	7.666	0.052	0.0153984795677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.05388	T	0.683	0.06147	T	0.022	0.18677	B	0.006	0.12133	B	0.571142	0.05480	N	1.233050	1	0.08975	N	2.3	0.65703	M	1.48	0.31731	T	-0.84	0.22944	N	0.202	0.22357	-1.0255	0.21919	T	0.052	0.22114	T	10	0.08751756	0.14981	T	0.015398	0.36109	T	0.052	0.14661	0.375	0.38830	0.412947484847	0.40908	0.12958851901145016	0.12883	0.270889457087	0.29614	0.232656523585	0.02170	T	0.108789	0.42211	T	-0.30027	0.08633	T	-0.669093	0.07667	T	0.951009750366211	0.63463	D	0.665033	0.27384	T	0.029064149	0.02342	0.026640462	0.00765	0.029064149	0.02341	0.026640462	0.00765	-3.661	0.18744	T	.	.	0.153	0.33936	B	.;.;.	.;.;.	-0.215492	0.03013	0.457	0.62842735329630794	0.07067	0.12242	0.17148	N	AEFDGBI	0.086672	0.17573	N	-0.901830607608241	0.10800	0.5178586	-0.948613076643019	0.10955	0.5551496	0.986378956837792	0.31052	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.7	0.015	0.13421	-0.007000	0.12747	-2.696000	0.03457	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3286:0.0:0.6714	7.666	0.27595	824	0.40336	.;.;.	.	.	.	.	.	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	0.025	52.46	84	chr1	246850179	.	C	G	52.46	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.875e+00;DP=2009;ExcessHet=0.0000;FS=169.546;InbreedingCoeff=-0.0442;MLEAC=1;MLEAF=0.025;MQ=59.95;MQRankSum=-1.684e+00;QD=0.33;ReadPosRankSum=1.43;SOR=7.568	GT:AD:DP:GQ:PL	0/1:124,36:167:66:66,0,2676	19	0	1	1
chr1	248441544	248441544	G	A	exonic	OR2T7	.	nonsynonymous SNV	OR2T7:NM_001355223:exon1:c.G428A:p.R143H,	.	.	431	984	107	0	0	107	0.0515663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0111821	0.0140	0.0012	0.0016	0.0007	0.0256	0.0089	0.0177	0.0527	0.000815	126	154602	rs138819139	0.0096	0.0097	0.0079	0.0113	0.0559	0.0095	0.0094	0.0546	0.0541	0.0010	0.0030	0.0133	0.0003	0.0252	0.0209	0.0060	0.0100	0.0559	0.0087	0.0085	0.0073	0.0102	0.0501	0.0083	0.0081	0.0449	0.0429	0.0011	0	0.0031	0.0157	0.0012	0.0257	0.0174	0.0085	0.0098	0.0501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6403.92	42	chr1	248441544	.	G	A	6403.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.04;DP=2468;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=48.50;MQRankSum=4.58;QD=9.67;ReadPosRankSum=1.26;SOR=0.752	GT:AD:DP:GQ:PL	0/1:49,52:101:99:1395,0,1483	17	0	4	0
chr2	15942167	15942167	T	C	exonic	MYCN	.	nonsynonymous SNV	MYCN:NM_001293228:exon2:c.T103C:p.F35L	Feingold syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.677	P	0.518	P	0.234	U	1.000	D	2.77	M	1.49	T	-0.942	T	0.176	T	0.477	3.917	19.92	3.41	1.333	7.790	12.154	0.286	0.044373811311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	0.06	0.45744	T	0.677	0.41330	P	0.518	0.48133	P	0.233754	0.03535	U	3.755950	1	0.81001	D	2.93	0.84523	M	1.49	0.31470	T	-4.1	0.74900	D	0.67	0.67822	-0.9421	0.42282	T	0.176	0.51974	T	10	0.64660263	0.69362	D	0.044374	0.61457	D	0.286	0.60456	0.684	0.82175	0.41089407703	0.40707	0.4334101353106042	0.43258	1.96884443498	0.93542	0.8407330513	0.88206	D	0.437509	0.78351	T	-0.0442364	0.45319	T	-0.301319	0.44585	T	0.985664367675781	0.76591	D	0.693531	0.30321	T	0.50143874	0.67179	0.5116405	0.71780	0.50143874	0.67180	0.5116405	0.71780	-9.153	0.68676	D	0.3311317344439049	0.42914	0.986	0.92555	P	.	.	5.096607	0.85133	28.5	0.99534555378436029	0.70087	0.94185	0.60371	D	AEFDBHCIJ	0.906427	0.85918	D	0.426405536680661	0.62880	4.51126	0.387417004661317	0.60788	4.270449	0.999999999989656	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.52208	0.10781	0	0.618803	0.45993	0	.	.	3.41	3.41	0.38145	7.806000	0.84575	5.954000	0.51702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	12.154	0.53373	961	0.08552	Transcription regulator Myc, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	168.98	34	chr2	15942167	.	T	C	168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.486e+00;DP=947;ExcessHet=0.0000;FS=158.112;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=3.55;SOR=7.700	GT:AD:DP:GQ:PL	0/1:191,46:237:99:183,0,4373	20	0	1	0
chr2	20667365	20667365	-	GGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGC:p.G50_R51insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	3/3:0,0,0,2:2:6:90,90,90,90,90,90,6,6,6,0	3	5	0	10
chr2	20667365	20667365	-	GGCGGCGGCGGCGGCGGC	exonic	GDF7	.	nonframeshift insertion	GDF7:NM_182828:exon1:c.126_127insGGCGGCGGCGGCGGCGGC:p.G50_R51insGGGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6818	3157.26	2	chr2	20667362	.	GGGC	GGGCGGCGGCGGC,GGGCGGCGGCGGCGGCGGCGGC,G	3157.26	.	AC=11,3,2;AF=0.500,0.136,0.091;AN=22;DP=140;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6169;MLEAC=18,5,2;MLEAF=0.818,0.227,0.091;MQ=60.00;QD=28.56;SOR=0.766	GT:AD:DP:GQ:PL	3/3:0,0,0,2:2:6:90,90,90,90,90,90,6,6,6,0	3	5	0	10
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.006	B	0.017	B	.	.	0.956	D	0.26	N	-3.53	D	-0.892	T	0.148	T	0.262	1.849	12.14	5.84	2.367	4.223	16.532	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.325	1873.78	24	chr2	23864893	.	T	C	1873.78	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.572e+00;DP=1254;ExcessHet=11.8493;FS=218.613;InbreedingCoeff=-0.4705;MLEAC=13;MLEAF=0.325;MQ=60.00;MQRankSum=0.00;QD=2.15;ReadPosRankSum=0.843;SOR=11.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:34,20:54:88:.:.:88,0,373	7	0	13	1
chr2	24758086	24758086	A	G	exonic	NCOA1	.	nonsynonymous SNV	NCOA1:NM_147233:exon19:c.A3995G:p.N1332S	.	.	421	1045	52	4	0	60	0.027907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.99	D	0.763	P	0.000	D	0.986	D	1.5	L	4.44	T	-1.035	T	0.018	T	0.156	3.771	19.15	3.82	0.897	4.694	10.626	0.128	.	0.0007	0.00579073	0.0042	0.0003	0.0008	0	0	0.0015	0.0033	0.0237	0.0037839	585	154602	rs150066931	0.0023	0.0023	0.0015	0.0032	0.0251	0.0023	0.0022	0.0242	0.0239	0.0001	0.0009	0.0097	0	9.36e-05	0.0191	0.0006	0.0030	0.0251	0.0018	0.0018	0.0013	0.0023	0.0226	0.0016	0.0015	0.0192	0.0179	0.0002	0	0.0034	0.0087	0.0002	0	0.0340	0.0008	0.0043	0.0226	0.038	0.49613	D	0.332	0.19246	T	0.586	0.63424	P	0.28	0.56556	B	0.000052	0.53742	D	0.165920	0.986487	0.40439	D	1.265	0.31966	L	4.44	0.02387	T	-1.95	0.45222	N	0.558	0.58287	-1.0348	0.18920	T	0.018	0.07234	T	10	0.007268876	0.00165	T	.	.	.	0.128	0.35103	.	.	0.465451373931	0.46169	0.09971257647709561	0.09902	0.682184877528	0.60094	0.605033278465	0.53615	T	0.180548	0.53192	T	-0.545155	0.00312	T	-0.5376	0.18533	T	0.0387270623869613	0.03461	T	0.830117	0.49576	T	0.10007006	0.23624	0.11117565	0.26814	0.10007006	0.23624	0.11117565	0.26814	-4.195	0.29693	T	.	.	0.103	0.36554	B	.;.;.;.;.;.	.;.;.;.;.;.	2.309185	0.29559	18.16	0.998768665370665	0.95410	0.92824	0.56635	D	AEFGBI	0.542611	0.55828	D	0.32565091433849	0.57468	3.914282	0.335407971965068	0.57633	3.929775	0.977072808704369	0.29785	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.01	3.82	0.43153	3.684000	0.54403	3.587000	0.39177	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9228:0.0:0.0771:0.0	10.626	0.44696	425	0.81160	.;.;.;.;.;.	.	.	.	.	.	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	0.04762	1740.11	39	chr2	24758086	.	A	G	1740.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.52;DP=798;ExcessHet=0.1072;FS=1.296;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.84;ReadPosRankSum=0.361;SOR=0.811	GT:AD:DP:GQ:PL	0/1:35,31:66:99:866,0,981	19	0	2	0
chr2	27457689	27457689	C	T	exonic	IFT172	.	nonsynonymous SNV	IFT172:NM_015662:exon29:c.G3178A:p.A1060T,	Retinitis pigmentosa 71, Autosomal recessive;Short-rib thoracic dysplasia 10 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	988622	Short-rib_thoracic_dysplasia_10_with_or_without_polydactyly|Bardet-Biedl_syndrome_20|Retinitis_pigmentosa_71|IFT172-related_disorder|Inborn_genetic_diseases	MONDO:MONDO:0014284,MedGen:C3810175,OMIM:615630,Orphanet:474|MONDO:MONDO:0023670,MedGen:C4310707,OMIM:619471|MONDO:MONDO:0014618,MedGen:C4225342,OMIM:616394,Orphanet:791|.|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.035	B	0.081	B	0.000	D	1.000	D	2.11	M	1.96	T	-1.105	T	0.074	T	0.829	3.914	19.91	6.08	2.890	4.525	19.229	0.177	0.0118874354197	.	0.000399361	0.0001	0	0	0	0	1.499e-05	0.0011	0.0008	0.0001164	18	154602	rs560379580	4.652e-05	4.652e-05	2.995e-05	6.325e-05	0.0006	3.727e-05	3.411e-05	0.0005	0.0004	0	0.0002	0	0	0	0.0002	6.295e-06	1.656e-05	0.0006	3.939e-05	3.937e-05	1.285e-05	6.714e-05	0.0010	1.714e-05	1.129e-05	0.0004	0.0003	0	0	6.538e-05	0	0	0	0	0	0	0.0010	0.075	0.34444	T	0.16	0.31427	T	0.035	0.20614	B	0.081	0.28987	B	0.000000	0.84330	D	0.046816	1	0.81001	D	2.15	0.60148	M	1.96	0.22270	T	-2.19	0.49352	N	0.224	0.25130	-1.1047	0.03567	T	0.074	0.29739	T	10	0.04322335	0.03149	T	0.011887	0.29959	T	0.177	0.44549	0.463	0.53242	0.310458034454	0.30648	0.21700164753902113	0.21616	0.184026296614	0.20700	0.531820952892	0.43291	T	0.28691	0.65971	T	-0.168196	0.25508	T	-0.0832002	0.64669	T	0.13990878311189	0.16268	T	0.889011	0.61998	D	0.22398822	0.45031	0.28936294	0.54956	0.22398822	0.45031	0.28936294	0.54956	-8.755	0.66106	D	0.2991456569440144	0.39638	0.112	0.22024	B	.	.	3.139286	0.42451	21.5	0.99828561708152386	0.91026	0.98384	0.82228	D	AEFGBI	0.552963	0.56441	D	0.184379462556949	0.50448	3.234812	0.358825569360663	0.59039	4.078736	0.999997702142414	0.74766	0.732398	0.92422	0	0.670034	0.63936	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	6.08	0.98982	4.597000	0.60770	4.842000	0.45294	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.229	0.93814	61	0.97388	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3042.98	35	chr2	27457689	.	C	T	3042.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.148;DP=981;ExcessHet=0.0000;FS=1.472;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-1.660e+00;SOR=0.724	GT:AD:DP:GQ:PL	0/1:147,120:267:99:3057,0,3753	20	0	1	0
chr2	29920520	29920520	G	A	exonic	ALK	.	nonsynonymous SNV	ALK:NM_004304:exon1:c.C140T:p.S47L,	.	.	1	1520	1	0	0	1	0.000328839	.	.	450842	not_provided|Neuroblastoma,_susceptibility_to,_3	MedGen:C3661900|MONDO:MONDO:0013083,MedGen:C2751681,OMIM:613014,Orphanet:635	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.996	D	0.773	P	.	.	0.997	D	0.805	L	2.1	T	0.099	D	0.588	D	0.621	5.563	35	5.16	2.558	7.579	16.492	0.142	0.407676999757	.	0.000399361	0.0004	0	9.76e-05	0.0001	0	0	0.0014	0.0028	0.0003105	48	154602	rs541315214	0.0002	0.0002	8.997e-05	0.0002	0.0026	0.0001	0.0001	0.0023	0.0022	0	0	0	0	0	0.0002	8.997e-07	0.0001	0.0026	8.535e-05	8.53e-05	5.139e-05	0.0001	0.0025	4.953e-05	3.96e-05	0.0014	0.0011	0	0	0	0	0.0002	0	0	0	0	0.0025	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.773	0.56974	P	.	.	.	.	0.996545	0.43267	D	0.695	0.17993	N	-2.09	0.86077	D	-0.95	0.25332	N	0.493	0.52651	0.099	0.84152	D	0.588	0.85250	D	8	0.019100785	0.00423	T	0.407677	0.93531	D	0.142	0.37995	0.269	0.21735	0.709269874621	0.70673	0.40241703137644824	0.40157	0.646462696076	0.58056	0.676629900932	0.63786	T	0.136516	0.46893	T	-0.177424	0.24120	T	-0.0322497	0.68219	D	0.104260885084788	0.12819	T	0.79512	0.43772	T	0.37242508	0.58764	0.43154827	0.66769	0.3636057	0.58109	0.49254826	0.70647	-2.368	0.04940	T	.	.	0.568	0.67564	P	.	.	5.377160	0.90129	31	0.99915903837266185	0.98379	0.88422	0.48343	D	AEFDBHCIJ	0.873577	0.79600	D	0.543525104609288	0.69688	5.392746	0.593463177061986	0.74467	6.142437	0.999999998298515	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	5.16	5.16	0.70563	6.251000	0.72393	11.579000	0.93331	0.586000	0.30580	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.492	0.84047	816	0.41767	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	672.98	33	chr2	29920520	.	G	A	672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.20;ReadPosRankSum=-1.148e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/1:39,27:66:99:687,0,1027	20	0	1	0
chr2	33365342	33365342	A	T	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_001166264:exon26:c.A3446T:p.E1149V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	.	.	1.000	D	1.735	L	-1.43	T	0.506	D	0.704	D	0.846	2.825	15.41	5.67	2.164	2.931	15.920	0.615	0.126583646381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.48186	D	0.044	0.53426	D	1.0	0.90584	D	0.994	0.92359	D	.	.	.	.	0.999994	0.58761	D	1.465	0.36909	L	-1.56	0.81815	D	-4.23	0.77308	D	0.703	0.74007	0.506	0.90636	D	0.704	0.89819	D	9	0.7521808	0.75718	D	0.126584	0.80827	D	0.615	0.84986	0.395	0.42099	0.674314398338	0.67155	0.6959807142721597	0.69539	0.619672692419	0.56308	0.564980745316	0.47969	T	0.544287	0.84452	D	0.281644	0.81455	D	0.166786	0.81217	D	0.973705232143402	0.70205	D	0.941406	0.78138	D	0.2734868	0.50416	0.2426337	0.49689	0.2734868	0.50416	0.2426337	0.49688	-8.778	0.67588	D	.	.	0.366	0.60415	A	.;.;.;.;.	.;.;.;.;.	4.069528	0.60449	24.2	0.99240916832346915	0.56533	0.95439	0.64725	D	AEFBI	0.544881	0.55962	D	0.470749118630667	0.65389	4.816446	0.41978380614854	0.62799	4.501513	0.999999999719222	0.74766	0.706548	0.73137	0	0.563428	0.19063	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	2.943000	0.48719	9.351000	0.80297	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.190000	0.21601	1.0:0.0:0.0:0.0	15.920	0.79349	844	0.36711	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1241.98	33	chr2	33365342	.	A	T	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.663e+00;DP=812;ExcessHet=0.0000;FS=0.698;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=-3.100e-02;SOR=0.813	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1256,0,1527	20	0	1	0
chr2	39288150	39288150	C	T	exonic	MAP4K3	.	nonsynonymous SNV	MAP4K3:NM_001270425:exon19:c.G1382A:p.R461K	.	.	.	.	.	.	.	.	.	.	.	2428704	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.97	T	0.001	B	0.002	B	0.000	D	1.000	D	0.115	N	2.6	T	-1.045	T	0.021	T	0.442	1.804	11.99	5.75	2.717	5.845	19.946	0.138	0.00886300102275	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754862131	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0002	1.52e-05	1.324e-05	2.985e-05	1.804e-05	2.987e-05	8.944e-05	0	0	0	0.0002	2.158e-05	1.656e-05	0	1.973e-05	1.97e-05	1.285e-05	2.692e-05	2.941e-05	5.24e-06	2.46e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0.0005	0	0.99	0.01967	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.06944	B	0.000092	0.51296	D	0.169427	0.999901	0.53665	D	0.375	0.12094	N	2.6	0.13204	T	0.17	0.05125	N	0.339	0.40164	-1.0451	0.15796	T	0.021	0.08732	T	10	0.121046364	0.22939	T	0.008863	0.23366	T	0.138	0.37187	.	.	0.334371577756	0.33041	0.12982448568697894	0.12907	0.0682535782543	0.07644	0.652739882469	0.60375	T	0.095668	0.39667	T	-0.294614	0.09177	T	-0.463997	0.26165	T	0.14367912709713	0.16588	T	0.893211	0.63049	D	0.1270388	0.29739	0.15250018	0.35876	0.1270388	0.29739	0.15250018	0.35875	-1.699	0.03528	T	.	.	0.116	0.26917	B	.;.;.	.;.;.	3.098467	0.41745	21.4	0.86035488387380099	0.16271	0.95745	0.65973	D	AEFBI	0.756224	0.69555	D	-0.211063331096681	0.32679	1.845606	0.060878732185534	0.42601	2.579542	0.999999975000407	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	4.402000	0.59482	7.663000	0.64347	0.452000	0.21348	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	19.946	0.97184	416	0.81733	.;.;.	.	.	.	.	.	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	0.02381	972.98	33	chr2	39288150	.	C	T	972.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.92;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=2.59;SOR=0.741	GT:AD:DP:GQ:PL	0/1:23,40:63:99:987,0,426	20	0	1	0
chr2	40177826	40177826	C	T	exonic	SLC8A1	.	nonsynonymous SNV	SLC8A1:NM_001252624:exon2:c.G1838A:p.R613H	.	.	424	1091	6	0	1	7	0.00274223	.	.	2815708	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.03	D	0.839	P	0.309	B	.	.	1.000	N	0.805	L	1.69	T	-1.086	T	0.032	T	0.133	2.134	13.09	3.52	1.178	1.537	9.660	0.026	0.00594189882963	0.0061	0.00199681	0.0036	0.0037	0	0.0013	0.0025	0.0053	0	0.0024	0.0013325	206	154602	rs5556	0.0054	0.0052	0.0055	0.0053	0.0062	0.0053	0.0053	0.0060	0.0060	0.0034	0.0032	0.0028	0	0.0033	0.0004	0.0062	0.0046	0.0024	0.0046	0.0046	0.0051	0.0040	0.0063	0.0043	0.0042	0.0058	0.0056	0.0035	0	0.0042	0.0055	0	0.0027	0	0.0063	0.0043	0.0008	0.052	0.39334	T	0.034	0.53788	D	0.312	0.46454	B	0.025	0.41361	B	.	.	.	.	1	0.81001	D	.	.	.	1.69	0.27032	T	0.7	0.02163	N	0.186	0.20395	-1.0857	0.06281	T	0.032	0.13723	T	9	0.00810191	0.00184	T	0.005942	0.15490	T	0.026	0.05648	.	.	0.378186627593	0.37434	.	.	.	.	.	.	.	.	.	.	-0.582008	0.00187	T	-0.605065	0.12388	T	0.0194907845740846	0.00653	T	0.90471	0.66491	D	.	.	.	.	.	.	.	.	-3.834	0.26155	T	.	.	0.323	0.54747	B	.;.;.;.;.	.;.;.;.;.	2.689687	0.35109	19.81	0.98404990060944253	0.41105	0.76312	0.37417	D	AEFBI	0.439888	0.49867	N	-0.263581673979091	0.30564	1.705464	-0.124599296366069	0.34400	1.978412	0.999196604130914	0.38711	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.42	3.52	0.39415	0.828000	0.27088	4.030000	0.41330	-0.313000	0.06017	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.8141:0.0:0.1859	9.660	0.39114	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	0.02381	1263.98	40	chr2	40177826	.	C	T	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=903;ExcessHet=0.0000;FS=1.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=-4.550e-01;SOR=0.523	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1278,0,1330	20	0	1	0
chr2	70212810	70212810	T	C	exonic	TIA1	.	nonsynonymous SNV	TIA1:NM_001351514:exon11:c.A842G:p.N281S	Welander distal myopathy, Autosomal recessive, Autosomal dominant	.	433	1063	25	1	0	27	0.0125406	.	.	250766	Amyotrophic_lateral_sclerosis_26_with_or_without_frontotemporal_dementia|Welander_distal_myopathy|not_provided|not_specified|TIA1-related_disorder	MONDO:MONDO:0030885,MedGen:C5436882,OMIM:619133|MONDO:MONDO:0011466,MedGen:C0221054,OMIM:604454,Orphanet:603|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.16	T	0.787	P	0.234	B	0.000	D	1.000	D	1.43	L	2.06	T	-1.132	T	0.042	T	0.153	2.087	12.94	5.88	2.250	2.022	15.114	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	0.04762	2643.11	34	chr2	70212810	.	T	C	2643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.906;DP=880;ExcessHet=0.1072;FS=0.494;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=0.844;SOR=0.755	GT:AD:DP:GQ:PL	0/1:54,46:100:99:1172,0,1370	19	0	2	0
chr2	70812532	70812532	C	G	exonic	CLEC4F	.	nonsynonymous SNV	CLEC4F:NM_001258027:exon5:c.G1454C:p.S485T	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.025	B	0.011	B	0.020	N	1.000	N	0.305	N	2.38	T	-1.038	T	0.021	T	0.147	-0.523	1.616	-3.56	-0.580	-0.398	1.104	0.006	.	7.7e-05	0.00339457	0.0025	0	8.637e-05	0	0	0	0.0011	0.0183	0.0020763	321	154602	rs150657543	0.0010	0.0010	0.0005	0.0015	0.0165	0.0010	0.0010	0.0158	0.0155	2.987e-05	2.236e-05	0	2.519e-05	0	0.0007	3.597e-06	0.0008	0.0165	0.0006	0.0006	0.0002	0.0009	0.0182	0.0005	0.0004	0.0151	0.0140	0	0	0	0	0	0	0	0	0	0.0182	0.497	0.07821	T	0.739	0.05018	T	0.025	0.19245	B	0.011	0.15521	B	0.020163	0.01526	N	2.993010	1	0.08975	N	0.65	0.16133	N	2.38	0.15843	T	-0.38	0.13418	N	0.151	0.15749	-1.0377	0.18016	T	0.021	0.08732	T	10	0.0036710203	0.00067	T	.	.	.	0.006	0.00375	.	.	0.220303561663	0.21668	0.068861589618601	0.06824	0.0382572651665	0.04071	0.230391234159	0.01997	T	9.58E-4	0.00501	T	-0.669054	0.00056	T	-0.7202	0.04786	T	0.0124922704954342	0.00206	T	0.0144985	0.00080	T	0.038262382	0.05063	0.029797679	0.01358	0.038262382	0.05063	0.029797679	0.01357	-2.758	0.07803	T	.	.	0.080	0.08129	B	.;.	.;.	-1.391458	0.00366	0.007	0.62723400465126222	0.07036	0.01172	0.04212	N	AEFBI	0.068224	0.13447	N	-1.47769315680555	0.02008	0.08822734	-1.52299202524538	0.02168	0.09929901	0.00248469952547242	0.09470	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.4	-3.56	0.04330	-0.405000	0.07258	-5.526000	0.01687	-3.858000	0.00055	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.1482:0.2891:0.1525:0.4102	1.104	0.01586	886	0.28090	C-type lectin-like|C-type lectin-like|CD209-like, C-type lectin-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	0.02381	1997.98	33	chr2	70812532	.	C	G	1997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=892;ExcessHet=0.0000;FS=1.147;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.92;ReadPosRankSum=0.905;SOR=0.606	GT:AD:DP:GQ:PL	0/1:102,81:183:99:2012,0,2423	20	0	1	0
chr2	71553842	71553842	A	G	exonic	DYSF	.	nonsynonymous SNV	DYSF:NM_001130976:exon20:c.A1924G:p.K642E	Miyoshi muscular dystrophy 1, Autosomal recessive;Muscular dystrophy, limb-girdle, type 2B, Autosomal recessive;Myopathy, distal, with anterior tibial onset, Autosomal recessive	.	1	1511	8	2	0	12	0.00395517	.	.	192759	not_provided|Distal_myopathy_with_anterior_tibial_onset|DYSF-related_disorder|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2B|Miyoshi_muscular_dystrophy_1|Qualitative_or_quantitative_defects_of_dysferlin|Limb-girdle_muscular_dystrophy,_recessive|Miyoshi_myopathy	MedGen:C3661900|MONDO:MONDO:0011721,MedGen:C1847532,OMIM:606768,Orphanet:178400|.|MONDO:MONDO:0009676,MedGen:C1850889,OMIM:253601,Orphanet:268|MONDO:MONDO:0024545,MedGen:C4551973,OMIM:254130,Orphanet:45448|MONDO:MONDO:0016145,MedGen:C2931687,Orphanet:207073|MedGen:CN239352|MONDO:MONDO:0009685,MedGen:C5553104,OMIM:PS254130,Orphanet:45448	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.967	D	0.000	N	0.999	D	3.01	M	-2.99	D	0.789	D	0.860	D	0.836	4.241	22.1	3.74	0.729	9.299	8.461	0.795	0.523722570094	0.0007	0.000199681	0.0009	0	0.0006	0	0.0010	0.0010	0.0035	0.0016	0.0007956	123	154602	rs139754493	0.0007	0.0007	0.0007	0.0008	0.0019	0.0007	0.0007	0.0016	0.0015	6.121e-05	0.0003	0.0030	2.694e-05	0.0010	0.0018	0.0006	0.0007	0.0019	0.0005	0.0005	0.0004	0.0007	0.0022	0.0004	0.0004	0.0012	0.0009	2.46e-05	0	0.0001	0.0041	0	0.0013	0	0.0006	0.0005	0.0022	0.001	0.78490	D	0.002	0.79402	D	0.989	0.77913	D	0.967	0.71530	D	0.000002	0.62929	N	0.056594	0.999198	0.46300	D	3.75	0.95014	H	-3.01	0.92258	D	-3.56	0.69950	D	0.91	0.95256	0.789	0.94272	D	0.860	0.95325	D	10	0.15630594	0.29441	T	0.523723	0.95485	D	0.795	0.93266	.	.	0.864877026976	0.86356	0.8941909727949634	0.89390	0.741849852607	0.63305	0.829079985619	0.86421	D	0.866485	0.97080	D	0.0964865	0.63910	D	0.358556	0.90647	D	0.199768653032341	0.20403	T	0.999	0.99457	D	0.6643513	0.76131	0.63808805	0.78864	0.6076292	0.73101	0.5962577	0.76558	-12.824	0.89156	D	0.8085370532570579	0.88394	0.948	0.93759	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	4.266257	0.64870	24.8	0.99862515467484969	0.94093	0.98701	0.85758	D	AEFBI	0.893192	0.83089	D	0.64381830211233	0.75968	6.400886	0.559441468282895	0.72057	5.750167	0.999989336865793	0.51787	0.706548	0.73137	0	0.573888	0.26702	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.89	3.74	0.42108	9.315000	0.95389	.	.	0.740000	0.86194	1.000000	0.71638	1.000000	0.68203	0.922000	0.45779	0.9065:0.0:0.0935:0.0	8.461	0.32089	499	0.76092	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1531.98	33	chr2	71553842	.	A	G	1531.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.068e+00;DP=800;ExcessHet=0.0000;FS=5.872;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.30;ReadPosRankSum=-2.380e-01;SOR=0.309	GT:AD:DP:GQ:PL	0/1:33,61:94:99:1546,0,819	20	0	1	0
chr2	73081099	73081101	TCC	-	exonic	RAB11FIP5	.	nonframeshift deletion	RAB11FIP5:NM_001371272:exon4:c.2131_2133del:p.G712del,	.	.	481	755	173	66	47	352	0.168044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1438.94	11	chr2	73081095	.	TTCCTCC	T,TTCC	1438.94	.	AC=6,2;AF=0.143,0.048;AN=42;BaseQRankSum=0.812;DP=242;ExcessHet=3.5521;FS=2.847;InbreedingCoeff=-0.2414;MLEAC=6,2;MLEAF=0.143,0.048;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=0.180;SOR=0.993	GT:AD:DP:GQ:PL	0/1:5,2,0:7:69:69,0,204,84,210,294	13	0	6	0
chr2	73385912	73385912	-	GGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGA:p.E28_A29insE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:18,13,0,0,0,0:31:99:410,0,673,465,712,1177,465,712,1177,1177,465,712,1177,1177,1177,465,712,1177,1177,1177,1177	0	4	5	0
chr2	73385907	73385912	GGAGGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.39_44del:p.E27_E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:18,13,0,0,0,0:31:99:410,0,673,465,712,1177,465,712,1177,1177,465,712,1177,1177,1177,465,712,1177,1177,1177,1177	0	4	5	0
chr2	73385910	73385912	GGA	-	exonic	ALMS1	.	nonframeshift deletion	ALMS1:NM_001378454:exon1:c.42_44del:p.E28del	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:18,13,0,0,0,0:31:99:410,0,673,465,712,1177,465,712,1177,1177,465,712,1177,1177,1177,465,712,1177,1177,1177,1177	0	4	5	0
chr2	73385912	73385912	-	GGAGGA	exonic	ALMS1	.	nonframeshift insertion	ALMS1:NM_001378454:exon1:c.44_45insGGAGGA:p.E28_A29insEE	Alstrom syndrome, Autosomal recessive	.	362	257	161	168	574	1071	0.491592	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	27780.28	45	chr2	73385903	.	TGGAGGAGGA	TGGAGGAGGAGGA,TGGA,TGGAGGA,T,TGGAGGAGGAGGAGGA	27780.28	.	AC=20,9,3,1,3;AF=0.476,0.214,0.071,0.024,0.071;AN=42;BaseQRankSum=0.176;DP=1004;ExcessHet=1.7912;FS=9.292;InbreedingCoeff=-0.1643;MLEAC=20,9,3,1,3;MLEAF=0.476,0.214,0.071,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=32.34;ReadPosRankSum=-7.700e-01;SOR=1.557	GT:AD:DP:GQ:PL	0/1:18,13,0,0,0,0:31:99:410,0,673,465,712,1177,465,712,1177,1177,465,712,1177,1177,1177,465,712,1177,1177,1177,1177	0	4	5	0
chr2	85133718	85133718	G	A	exonic	TCF7L1	.	nonsynonymous SNV	TCF7L1:NM_031283:exon1:c.G34A:p.G12S,	.	.	308	1204	8	2	0	12	0.00495868	.	.	2812057	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.039	B	0.003	B	.	.	1.000	N	0.55	N	-4.92	D	0.337	D	0.813	D	0.388	0.364	5.976	1.79	0.245	1.853	7.497	0.351	0.301119982157	.	0.00299521	0	0	.	.	.	0	.	.	0.00146	38	26028	rs534725385	0.0079	0.0062	0.0081	0.0077	0.0075	0.0078	0.0077	0.0074	0.0073	0.0006	0.0012	0.0037	0	0.0554	0.0008	0.0075	0.0073	0.0046	0.0080	0.0083	0.0061	0.0099	0.0089	0.0076	0.0074	0.0083	0.0080	0.0014	0.0143	0.0019	0.0041	0	0.0484	0	0.0089	0.0068	0.0056	0.31	0.14017	T	0.568	0.08870	T	0.039	0.21116	B	0.003	0.08700	B	.	.	.	.	0.999526	0.21047	N	0.55	0.14455	N	-4.92	0.98371	D	-0.28	0.11547	N	0.306	0.34552	0.337	0.88140	D	0.813	0.93694	D	9	0.0069305897	0.00157	T	0.30112	0.90885	D	0.351	0.67234	.	.	0.877362171508	0.87616	0.25283890564012823	0.25197	1.19061195492	0.80273	0.84709250927	0.89175	D	0.108855	0.42224	T	0.119098	0.66283	D	-0.0667	0.65861	T	0.0584894600446997	0.06929	T	0.479552	0.14466	T	0.08004834	0.18321	0.11057063	0.26662	0.08004834	0.18321	0.11057063	0.26661	-6.343	0.49063	T	.	.	0.120	0.24867	B	.	.	1.700211	0.21659	15.29	0.88919460910643844	0.18362	0.17815	0.19999	N	AEFDBCI	0.104676	0.20938	N	-0.883882048248012	0.11225	0.5405847	-0.906592868156542	0.11939	0.6112602	0.999983915956437	0.51787	0.59774	0.34471	0	0.596491	0.49125	0	0.231153	0.04653	2	0.621717	0.48901	0	.	.	2.7	1.79	0.23992	2.258000	0.42905	0.836000	0.21996	0.220000	0.18069	0.947000	0.32937	0.789000	0.26847	0.061000	0.16044	0.1442:0.0:0.8558:0.0	7.497	0.26664	829	0.39537	CTNNB1 binding, N-teminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1040.98	33	chr2	85133718	.	G	A	1040.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.695;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.95;ReadPosRankSum=0.444;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,30:58:99:0|1:85133705_GGGC_G:1055,0,934:85133705	20	0	1	0
chr2	86130651	86130651	A	G	exonic	PTCD3	.	nonsynonymous SNV	PTCD3:NM_017952:exon15:c.A1151G:p.D384G,	.	.	404	1116	2	0	0	2	0.000895255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.007	B	0.009	B	0.521	N	1.000	N	-0.49	N	1.41	T	-1.016	T	0.007	T	0.055	0.766	8.050	-11.7	-2.274	-1.627	12.074	0.055	.	0.0080	0.00579073	0.0023	0.0236	0.0014	0	0	0.0002	0.0011	0	0.0020828	322	154602	rs34866009	0.0007	0.0007	0.0008	0.0006	0.0238	0.0007	0.0007	0.0224	0.0219	0.0238	0.0014	0	0	1.877e-05	0.0045	6.941e-05	0.0016	0.0001	0.0066	0.0066	0.0068	0.0064	0.0228	0.0063	0.0061	0.0216	0.0211	0.0228	0	0.0026	0	0	0	0.0034	0.0001	0.0043	0	0.419	0.09866	T	0.401	0.14961	T	0.007	0.14184	B	0.009	0.14300	B	0.521296	0.05204	N	1.206490	1	0.08975	N	-0.505	0.02602	N	1.41	0.33412	T	0.71	0.02130	N	0.091	0.06990	-1.0158	0.25078	T	0.007	0.02282	T	10	0.002462715	0.00037	T	.	.	.	0.055	0.15663	.	.	0.0482279557977	0.04254	0.44770504746696554	0.44688	0.0642460571444	0.07162	0.308227568865	0.11639	T	0.008139	0.07488	T	-0.69168	0.00041	T	-0.748741	0.03535	T	0.00987740606062613	0.00131	T	0.352565	0.07917	T	0.07053912	0.15545	0.050811026	0.08049	0.07053912	0.15544	0.050811026	0.08049	-3.357	0.14484	T	.	.	0.099	0.16626	B	.	.	-0.576899	0.01636	0.114	0.3264325491749509	0.01902	0.00403	0.02011	N	AEFDBI	0.024814	0.01598	N	-1.80800010930352	0.00526	0.02263713	-1.8901026460749	0.00512	0.02269621	0.999999999996221	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.84	-11.7	0.00035	-1.019000	0.03733	-2.002000	0.04363	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.1175:0.0855:0.6811:0.1159	12.074	0.52930	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	0	0	0	1	0	0	0	0.02381	964.98	33	chr2	86130651	.	A	G	964.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=752;ExcessHet=0.0000;FS=4.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=0.811;SOR=1.003	GT:AD:DP:GQ:PL	0/1:37,39:76:99:979,0,858	20	0	1	0
chr2	86173752	86173752	C	T	exonic	IMMT	.	nonsynonymous SNV	IMMT:NM_001100169:exon4:c.G319A:p.G107S	.	.	0	225	1	0	0	1	0.00221729	.	.	2379977	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.828	P	0.764	P	0.128	N	1.000	D	1.78	L	1.66	T	-1.034	T	0.126	T	0.211	2.656	14.84	3.87	0.986	3.261	11.199	0.064	0.0128947372264	.	.	0.0001	0.0004	0	0	0	0.0002	0	0	9.7e-05	15	154602	rs376275324	0.0001	0.0001	0.0001	0.0001	0.0035	9.07e-05	8.536e-05	0.0023	0.0020	0.0013	2.36e-05	0	0	1.879e-05	0.0035	5.728e-05	0.0002	8.503e-05	0.0002	0.0002	0.0002	0.0002	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0	6.549e-05	0	0	0	0	8.822e-05	0	0	0.036	0.47320	D	0.355	0.57587	T	0.001	0.09854	B	0.015	0.20792	B	0.127633	0.18760	N	0.597928	0.999734	0.48635	D	.	.	.	1.66	0.27486	T	-1.84	0.51968	N	0.192	0.21056	-1.0338	0.19236	T	0.126	0.43132	T	10	0.10370505	0.19079	T	0.012895	0.31852	T	0.064	0.18567	0.662	0.79996	0.353761421236	0.34979	0.378659573225176	0.37780	0.130582061597	0.14734	0.496716797352	0.38370	T	0.015774	0.43596	T	-0.389811	0.02698	T	-0.465649	0.25987	T	0.0397609787129315	0.03647	T	0.865613	0.56597	D	0.13005933	0.30358	0.13709246	0.32779	0.13005933	0.30358	0.13709246	0.32778	-2.644	0.06845	T	.	.	0.096	0.15296	B	.;.;.;.;.;.	.;.;.;.;.;.	2.785855	0.36605	20.3	0.99309097233150356	0.58943	0.94736	0.62153	D	AEFBI	0.370671	0.45696	N	-0.0892025807869594	0.37865	2.20921	0.0120880485610974	0.40275	2.40101	0.994160672413291	0.33516	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.75	3.87	0.43823	3.325000	0.51742	4.863000	0.45489	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.958000	0.51230	0.0:0.9135:0.0:0.0865	11.199	0.47958	523	0.74147	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	688.98	42	chr2	86173752	.	C	T	688.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=854;ExcessHet=0.0000;FS=5.254;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=1.58;SOR=1.432	GT:AD:DP:GQ:PL	0/1:40,27:67:99:703,0,1072	20	0	1	0
chr2	88452181	88452181	-	GGCGGGCGC	exonic	FOXI3	.	nonframeshift insertion	FOXI3:NM_001135649:exon1:c.354_355insGCGCCCGCC:p.A118_S119insAPA,	.	.	88	1425	7	2	0	11	0.00384481	.	.	1041711	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0.0023	0	0	0	0.0001164	18	154602	rs757327073	0.0061	0.0048	0.0064	0.0058	0.0073	0.0060	0.0059	0.0066	0.0065	0.0005	0.0004	0.0017	0.0003	0.0005	0.0024	0.0067	0.0053	0.0073	0.0044	0.0044	0.0046	0.0043	0.0088	0.0042	0.0040	0.0068	0.0066	0.0011	0	0.0024	0.0026	0.0002	0.0031	0	0.0073	0.0049	0.0088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	530.94	38	chr2	88452181	.	A	AGGCGGGCGC	530.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.787;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.12;ReadPosRankSum=-2.900e-02;SOR=1.127	GT:AD:DP:GQ:PL	0/1:10,14:24:99:545,0,379	20	0	1	0
chr2	94876587	94876587	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C580A:p.L194I	.	.	432	641	448	0	1	449	0.25896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.207	B	0.092	B	0.005	N	0.996	D	-0.23	N	4.47	T	-0.881	T	0.003	T	0.423	-1.806	0.009	1.05	1.049	-0.033	7.455	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	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3571	8192.58	228	chr2	94876587	.	C	A	8192.58	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.040e-01;DP=4322;ExcessHet=17.4423;FS=7.871;InbreedingCoeff=-0.5628;MLEAC=15;MLEAF=0.357;MQ=58.06;MQRankSum=-1.627e+01;QD=2.09;ReadPosRankSum=-3.458e+00;SOR=1.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,26:273:99:0|1:94876587_C_A:348,0,10145:94876587	6	0	15	0
chr2	94876618	94876618	C	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C611G:p.A204G	.	.	432	224	865	0	1	866	0.658797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.919	D	0.000	D	1.000	D	3.26	M	3.93	T	-1.109	T	0.045	T	0.571	3.511	17.94	2.43	1.049	4.806	10.548	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.425	33671.17	300	chr2	94876618	.	C	G	33671.17	.	AC=17;AF=0.425;AN=40;BaseQRankSum=-2.098e+00;DP=6579;ExcessHet=25.1139;FS=1.453;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.450;MQ=57.19;MQRankSum=-1.858e+01;QD=5.73;ReadPosRankSum=-2.736e+00;SOR=0.866	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,49:329:99:0|1:94876587_C_A:1215,0,11610:94876587	3	0	17	1
chr2	94876632	94876632	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C625T:p.R209C	.	.	431	192	898	1	0	900	0.700935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.048	B	0.017	B	0.105	N	1.000	D	1.645	L	4.19	T	-0.957	T	0.009	T	0.649	1.193	9.848	1.05	1.049	0.077	6.095	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	0.45	45706.22	343	chr2	94876632	.	C	T	45706.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-3.939e+00;DP=7445;ExcessHet=30.0624;FS=0.645;InbreedingCoeff=-0.7872;MLEAC=19;MLEAF=0.475;MQ=56.72;MQRankSum=-1.920e+01;QD=6.73;ReadPosRankSum=-7.690e-01;SOR=0.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,56:347:99:0|1:94876587_C_A:1476,0,11956:94876587	2	0	18	1
chr2	94876671	94876671	A	G	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A664G:p.I222V	.	.	425	183	912	2	0	916	0.714509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.967	D	0.77	P	0.000	D	1.000	D	2.675	M	3.8	T	-1.154	T	0.035	T	0.579	2.768	15.22	2.43	0.866	3.036	8.354	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	58582.68	398	chr2	94876671	.	A	G	58582.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-7.281e+00;DP=8408;ExcessHet=36.0830;FS=0.633;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.56;MQRankSum=-2.037e+01;QD=7.10;ReadPosRankSum=4.57;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:311,66:377:99:.:.:1835,0,12692	2	0	19	0
chr2	94876674	94876674	G	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.G667A:p.A223T	.	.	426	179	915	2	0	919	0.719655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.003	B	0.013	B	0.040	N	0.984	N	3.03	M	4.15	T	-0.940	T	0.013	T	0.4	0.667	7.574	-2.21	-0.321	0.130	6.926	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	0.4524	58619.68	400	chr2	94876674	.	G	A	58619.68	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-6.968e+00;DP=8442;ExcessHet=36.0830;FS=0.632;InbreedingCoeff=-0.8261;MLEAC=19;MLEAF=0.452;MQ=56.55;MQRankSum=-2.055e+01;QD=7.10;ReadPosRankSum=4.91;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:317,64:381:99:.:.:923,0,12918	2	0	19	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C	.	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.572	P	0.148	B	0.002	N	1.000	D	1.87	L	4.11	T	-0.879	T	0.010	T	0.568	2.034	12.76	2.43	1.049	0.890	10.548	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	0.4048	26857.9	353	chr2	94876731	.	C	T	26857.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.609e+00;DP=7291;ExcessHet=25.1139;FS=3.279;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=57.21;MQRankSum=-2.034e+01;QD=3.85;ReadPosRankSum=-1.165e+00;SOR=0.996	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:316,40:356:99:.:.:566,0,8286	4	0	17	0
chr2	94876737	94876737	C	A	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C730A:p.P244T	.	.	420	623	478	1	0	480	0.2781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	1.0	D	0.000	D	1.000	D	2.125	M	4.16	T	-1.119	T	0.028	T	0.662	3.703	18.81	2.43	1.049	3.135	10.548	0.305	0.00856323149497	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	0	2.052e-06	0	0	.	0	0	.	.	0	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	2.49	0.72568	M	4.16	0.02791	T	-6.15	0.90178	D	0.449	0.48689	-1.1193	0.02376	T	0.028	0.11926	T	10	0.86077964	0.85296	D	0.008563	0.22631	T	0.305	0.62620	0.82	0.93328	0.439763647824	0.43599	0.7402352279972402	0.73968	0.238822044954	0.26437	0.431803226471	0.29455	T	0.211342	0.57208	T	-0.00288391	0.51258	T	-0.241919	0.50610	T	0.997360169887543	0.91383	D	0.868613	0.57103	D	0.468639	0.65206	0.43668678	0.67113	0.468639	0.65207	0.43668678	0.67113	-9.492	0.70809	D	.	.	0.247	0.48188	B	.	.	3.384766	0.46838	22.4	0.99756532367682871	0.84694	0.76429	0.37483	D	AEFDGBI	0.183688	0.31101	N	0.284556175349996	0.55366	3.700636	0.149238450167121	0.47101	2.945506	0.878548229655452	0.25568	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	2.43	0.28797	3.367000	0.52075	5.126000	0.47622	0.302000	0.18967	1.000000	0.71638	1.000000	0.68203	0.409000	0.26983	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	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	0.2857	9909.42	357	chr2	94876737	.	C	A	9909.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.994e+00;DP=5582;ExcessHet=9.6308;FS=1.817;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=56.98;MQRankSum=-1.456e+01;QD=2.02;ReadPosRankSum=-2.106e+00;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:326,28:354:99:0|1:94876737_C_A:193,0,13419:94876737	9	0	12	0
chr2	94876740	94876740	A	C	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.A733C:p.T245P	.	.	420	617	484	1	0	486	0.282558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.125	B	0.085	B	0.131	N	1.000	N	2.43	M	4.2	T	-0.996	T	0.012	T	0.464	1.473	10.87	1.2	0.866	-1.017	2.624	0.095	0.00171498663639	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.114	0.36765	T	0.125	0.26866	B	0.085	0.29395	B	0.131368	0.18625	N	0.557409	0.999999	0.08975	N	1.955	0.52871	M	4.2	0.02689	T	-3.07	0.63207	D	0.235	0.26475	-0.9960	0.31028	T	0.012	0.04558	T	10	0.1880475	0.34342	T	0.001715	0.02856	T	0.095	0.27398	0.692	0.82938	0.242825505644	0.23883	0.760572030042999	0.76005	0.0377657102004	0.04010	0.42577329278	0.28630	T	0.133664	0.46448	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.267470479011536	0.23639	T	0.608739	0.23025	T	0.12824208	0.29987	0.113306135	0.27344	0.12824208	0.29987	0.113306135	0.27344	-6.544	0.50625	T	.	.	0.070	0.03552	B	.	.	1.347397	0.17547	13.23	0.9830799806719418	0.40116	0.00645	0.02815	N	AEFDGBI	0.062337	0.11976	N	-0.575656789009934	0.19685	1.032239	-0.641925779952209	0.18420	0.9839579	4.74237286387209E-4	0.07095	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.699875	0.68795	0	.	.	2.43	1.2	0.20181	-0.628000	0.05611	0.633000	0.20247	0.373000	0.20310	0.000000	0.06391	0.002000	0.18203	0.392000	0.26603	0.5413:0.283:0.1757:0.0	2.624	0.04627	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	10071.42	352	chr2	94876740	.	A	C	10071.42	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-1.875e+00;DP=5568;ExcessHet=9.6308;FS=1.912;InbreedingCoeff=-0.4000;MLEAC=12;MLEAF=0.286;MQ=57.10;MQRankSum=-1.500e+01;QD=2.08;ReadPosRankSum=-2.492e+00;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:318,28:346:99:0|1:94876737_C_A:217,0,13226:94876737	9	0	12	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	.	.	.	.	.	.	1.000	N	1.32	L	2.56	T	-0.945	T	0.020	T	0.057	1.140	9.645	-5.28	-1.321	0.150	0.771	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	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	31056.74	205	chr2	95855390	.	T	C	31056.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.80;DP=5080;ExcessHet=54.0936;FS=20.631;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.44;MQRankSum=-1.119e+01;QD=6.32;ReadPosRankSum=-6.536e+00;SOR=2.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:201,51:252:99:.:.:903,0,5359	0	0	21	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H,	.	.	432	686	404	0	0	404	0.227477	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	.	.	.	.	.	.	1.000	N	0.235	N	2.59	T	-0.942	T	0.018	T	0.062	0.675	7.614	-0.833	0.028	1.770	6.110	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7228.38	236	chr2	95855406	.	C	G	7228.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=1.43;DP=5612;ExcessHet=17.4423;FS=6.424;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=53.45;MQRankSum=-6.363e+00;QD=1.79;ReadPosRankSum=-3.638e+00;SOR=1.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:240,52:292:99:.:.:822,0,6788	6	0	15	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	.	.	.	.	.	.	1.000	N	-0.55	N	2.62	T	-0.930	T	0.011	T	0.014	-2.217	0.005	-0.838	-0.224	0.602	6.069	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	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.5	75221.74	386	chr2	95855549	.	T	C	75221.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.304e+00;DP=7464;ExcessHet=54.0936;FS=12.010;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=44.23;MQRankSum=-1.248e+01;QD=10.32;ReadPosRankSum=0.574;SOR=1.209	GT:AD:DP:GQ:PL	0/1:237,133:370:99:2643,0,6475	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	.	.	.	.	.	.	1.000	N	1.175	L	2.41	T	-1.026	T	0.039	T	0.224	1.957	12.50	2.11	1.218	0.837	8.115	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	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	63179.74	326	chr2	95855576	.	A	G	63179.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.434e+00;DP=6464;ExcessHet=54.0936;FS=27.969;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=46.08;MQRankSum=-1.255e+01;QD=10.07;ReadPosRankSum=-2.075e+00;SOR=1.916	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:238,90:328:99:.:.:2351,0,6455	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	.	.	.	.	.	.	1.000	N	0.625	N	2.59	T	-0.961	T	0.019	T	0.071	-0.386	2.186	-2.48	-0.579	0.734	3.442	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8954.51	309	chr2	95855586	.	T	C	8954.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=0.765;DP=6041;ExcessHet=30.0624;FS=14.124;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.89;MQRankSum=-6.696e+00;QD=1.78;ReadPosRankSum=-2.125e+00;SOR=2.133	GT:AD:DP:GQ:PL	0/1:277,34:311:99:198,0,10971	3	0	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	.	.	.	.	.	.	1.000	N	0.67	N	2.4	T	-0.978	T	0.023	T	0.059	-0.264	2.731	0.82	0.218	1.729	2.541	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	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	49926.74	306	chr2	95855588	.	T	C	49926.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.094e+00;DP=5999;ExcessHet=54.0936;FS=32.611;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=47.18;MQRankSum=-1.171e+01;QD=8.52;ReadPosRankSum=-4.041e+00;SOR=2.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:222,75:297:99:.:.:1893,0,6199	0	0	21	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28198.39	155	chr2	95859969	.	A	AT	28198.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.047e+00;DP=3277;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.329e+00;QD=8.84;ReadPosRankSum=0.032;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,29:141:99:0|1:95859969_A_AT:860,0,4564:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.053	B	0.021	B	.	.	0.994	N	-1.7	N	2.42	T	-0.981	T	0.008	T	0.245	-3.330	0.001	-3.7	-1.374	-0.833	3.712	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	28168.43	155	chr2	95859970	.	G	T	28168.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.065;DP=3274;ExcessHet=43.6797;FS=2.014;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.99;MQRankSum=-9.404e+00;QD=8.80;ReadPosRankSum=0.078;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,29:141:99:0|1:95859969_A_AT:860,0,4564:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.93	T	0.055	B	0.007	B	.	.	1.000	N	-1.355	N	2.42	T	-0.947	T	0.010	T	0.097	-0.493	1.736	0.634	0.138	0.540	5.605	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	27722.43	155	chr2	95859975	.	C	T	27722.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.800e-02;DP=3242;ExcessHet=43.6797;FS=2.825;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.97;MQRankSum=-9.484e+00;QD=8.72;ReadPosRankSum=-1.190e-01;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,28:139:99:0|1:95859969_A_AT:842,0,4546:95859969	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.618	P	0.296	B	.	.	1.000	P	0.345	N	2.35	T	-1.040	T	0.022	T	0.211	-0.948	0.346	1.85	1.110	0.027	3.593	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	24477.43	159	chr2	95859988	.	T	C	24477.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.265;DP=3203;ExcessHet=43.6797;FS=2.880;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.88;MQRankSum=-9.614e+00;QD=7.83;ReadPosRankSum=-7.870e-01;SOR=0.923	GT:AD:DP:GQ:PL	0/1:106,28:134:99:815,0,2901	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.898	P	0.775	P	.	.	1.000	P	1.965	M	2.2	T	-0.998	T	0.066	T	0.49	0.033	4.184	-0.873	-0.207	1.019	2.065	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	17994.43	154	chr2	95860002	.	T	A	17994.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.989;DP=3061;ExcessHet=43.6797;FS=3.053;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.84;MQRankSum=-9.029e+00;QD=6.03;ReadPosRankSum=-1.082e+00;SOR=0.963	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,23:130:99:.:.:323,0,4292	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.886	P	0.685	P	.	.	1.000	P	1.1	L	2.36	T	-1.031	T	0.037	T	0.093	0.511	6.772	0.608	0.161	0.077	4.768	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	21658.43	153	chr2	95860007	.	A	T	21658.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.16;DP=2998;ExcessHet=43.6797;FS=3.057;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.82;MQRankSum=-8.906e+00;QD=7.38;ReadPosRankSum=-1.059e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,24:125:99:.:.:705,0,2769	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.0	B	0.0	B	.	.	1.000	P	-1.385	N	2.38	T	-0.937	T	0.010	T	0.175	-3.138	0.001	0.635	0.138	3.039	5.605	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	18382.43	145	chr2	95860020	.	G	A	18382.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.556;DP=2780;ExcessHet=43.6797;FS=4.214;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.76;MQRankSum=-8.652e+00;QD=6.86;ReadPosRankSum=-1.267e+00;SOR=1.096	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,19:113:99:0|1:95860020_G_A:515,0,3848:95860020	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	.	.	.	.	.	.	0.000	P	.	.	.	.	.	.	.	.	.	15.302	49	-0.698	-0.207	0.666	5.748	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	17446.43	144	chr2	95860023	.	A	C	17446.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=1.97;DP=2699;ExcessHet=43.6797;FS=5.438;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.71;MQRankSum=-8.809e+00;QD=6.58;ReadPosRankSum=-1.356e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,19:114:99:0|1:95860020_G_A:512,0,3870:95860020	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	P	-1.59	N	2.33	T	-0.964	T	0.008	T	0.055	-3.899	0.001	-2.51	-0.641	0.852	0.839	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	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.4762	11608.43	114	chr2	95860046	.	C	A	11608.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.094;DP=2166;ExcessHet=43.6797;FS=7.428;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=58.39;MQRankSum=-9.225e+00;QD=5.60;ReadPosRankSum=-1.053e+00;SOR=1.366	GT:AD:DP:GQ:PL	0/1:81,12:93:99:261,0,2294	1	0	20	0
chr2	95891674	95891674	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon67:c.A3943T:p.T1315S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	.	.	.	.	.	.	1.000	N	.	.	-0.93	T	-1.026	T	0.121	T	0.027	-3.358	0.001	-1.14	-1.678	-0.203	.	0.098	0.00291427588903	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1260919298	2.841e-06	0.0002	1.405e-06	4.309e-06	.	6.7e-07	4.5e-07	.	.	0	0	0	0	8.162e-05	0	0	0	0	6.687e-06	0.0024	0	1.371e-05	1.486e-05	0	0	.	.	0	0	0	0	0	0	0	1.486e-05	0	0	0.492	0.07944	T	0.292	0.20877	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.93	0.75215	T	-0.29	0.11728	N	0.043	0.02861	-1.0260	0.21756	T	0.121	0.42208	T	5	0.04610786	0.03760	T	0.002914	0.06162	T	0.098	0.28162	0.139	0.04277	0.18995819373	0.18626	3.2899001332843344E-4	0.00029	.	.	.	.	.	0.001442	0.00900	T	-0.278035	0.10877	T	-0.637155	0.09879	T	0.0239688079694826	0.01142	T	0.163384	0.02201	T	0.05901639	0.11943	0.0651601	0.13168	0.05901639	0.11943	0.0651601	0.13167	-2.145	0.24445	T	.	.	0.143	0.31355	B	.;.	.;.	-1.129647	0.00606	0.016	0.031514088493064071	0.00000	0.00007	0.00120	N	AEFBI	0.015590	0.00305	N	-1.46910891231834	0.02071	0.09107147	-1.69214697447218	0.01172	0.05275655	6.86907755470711E-5	0.04366	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.550183	0.17644	0	.	.	0.569	-1.14	0.09241	-0.118000	0.10665	-0.182000	0.11122	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	250	0.90192	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	53.11	34	chr2	95891674	.	T	A	53.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.521;DP=972;ExcessHet=0.1072;FS=6.096;InbreedingCoeff=-0.0502;MLEAC=2;MLEAF=0.048;MQ=58.57;MQRankSum=-8.778e+00;QD=0.33;ReadPosRankSum=-1.944e+00;SOR=1.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,6:69:29:0|1:95891667_C_G:29,0,2560:95891667	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	19293.39	162	chr2	95927222	.	G	GAT	19293.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=2.91;DP=3244;ExcessHet=43.6797;FS=41.935;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.80;MQRankSum=-9.777e+00;QD=6.04;ReadPosRankSum=-5.428e+00;SOR=4.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,26:163:99:0|1:95927222_G_GAT:679,0,5674:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28849.39	181	chr2	95927226	.	GTT	G	28849.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.24;DP=3663;ExcessHet=43.6797;FS=12.728;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.66;MQRankSum=-1.068e+01;QD=7.97;ReadPosRankSum=-5.292e+00;SOR=1.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,41:181:99:0|1:95927222_G_GAT:1300,0,5755:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	2.045	M	-1.11	T	-0.526	T	0.427	T	0.17	0.495	6.683	0.578	0.482	1.675	.	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	.;.	.	.	.	.	.	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	0.4762	39187.43	200	chr2	95927234	.	T	C	39187.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.176e+00;DP=4058;ExcessHet=43.6797;FS=7.313;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=54.37;MQRankSum=-1.145e+01;QD=9.76;ReadPosRankSum=-5.766e+00;SOR=1.238	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,50:200:99:0|1:95927222_G_GAT:1648,0,6148:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	.	.	.	.	.	.	1.000	N	2.175	M	-1.08	T	-0.803	T	0.326	T	0.253	0.721	7.838	-1.16	-0.580	0.588	.	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	.;.	.	.	.	.	.	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	0.4762	71909.43	290	chr2	95927252	.	A	G	71909.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.880e-01;DP=5309;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.50;MQRankSum=-1.377e+01;QD=13.66;ReadPosRankSum=-5.061e+00;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,76:247:99:0|1:95927222_G_GAT:2676,0,6951:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	2.175	M	-1.1	T	-0.487	T	0.446	T	0.443	1.148	9.675	0.578	0.573	0.559	.	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	.;.	.	.	.	.	.	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	0.4762	99348.43	354	chr2	95927268	.	C	A	99348.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-5.669e+00;DP=6340;ExcessHet=43.6797;FS=3.258;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.67;MQRankSum=-1.545e+01;QD=15.78;ReadPosRankSum=-3.350e+00;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,110:295:99:0|1:95927222_G_GAT:3940,0,7416:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	P	2.135	M	-1.07	T	-0.030	T	0.463	T	0.042	2.046	12.80	0.578	0.573	1.620	.	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	100976.43	370	chr2	95927277	.	C	T	100976.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-6.195e+00;DP=6692;ExcessHet=43.6797;FS=2.488;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=52.63;MQRankSum=-1.581e+01;QD=15.46;ReadPosRankSum=-7.660e-01;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,113:310:99:0|1:95927222_G_GAT:3970,0,7636:95927222	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	P	.	.	-1.41	T	-0.324	T	0.401	T	0.195	1.779	11.91	0.871	0.621	1.851	3.983	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	0.4762	41574.43	202	chr2	95929092	.	T	C	41574.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=0.846;DP=3927;ExcessHet=43.6797;FS=3.785;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=47.18;MQRankSum=-9.680e+00;QD=10.76;ReadPosRankSum=-3.033e+00;SOR=1.064	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,49:202:99:0|1:95929092_T_C:1547,0,6234:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	.	.	.	.	.	.	1.000	N	.	.	-1.17	T	-0.746	T	0.297	T	0.219	0.645	7.463	-0.637	-0.224	0.734	2.815	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	.;.	.	.	.	.	.	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	0.4762	51819.43	236	chr2	95929110	.	A	G	51819.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=9.99;DP=4508;ExcessHet=43.6797;FS=8.254;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=45.41;MQRankSum=-9.797e+00;QD=11.60;ReadPosRankSum=-2.111e+00;SOR=1.293	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,60:234:99:0|1:95929092_T_C:1996,0,7126:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	.	.	.	.	.	.	1.000	N	.	.	-0.96	T	-0.705	T	0.302	T	0.375	1.013	9.136	0.871	0.742	0.666	5.051	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	0.4762	67411.43	272	chr2	95929126	.	C	A	67411.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=3.03;DP=5235;ExcessHet=43.6797;FS=15.425;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=44.20;MQRankSum=-1.062e+01;QD=12.98;ReadPosRankSum=-1.058e+00;SOR=1.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,79:267:99:0|1:95929092_T_C:2751,0,7656:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	-0.99	T	-0.983	T	0.120	T	0.057	0.583	7.149	-0.054	-0.059	0.169	4.774	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	71752.43	282	chr2	95929130	.	G	C	71752.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=5.49;DP=5406;ExcessHet=43.6797;FS=17.088;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.89;MQRankSum=-1.053e+01;QD=13.38;ReadPosRankSum=-8.420e-01;SOR=1.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:190,84:274:99:0|1:95929092_T_C:2955,0,7725:95929092	1	0	20	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	.	.	1.000	N	.	.	-1.0	T	-0.975	T	0.178	T	0.032	1.786	11.93	-0.087	-0.070	0.689	3.151	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	75077.43	291	chr2	95929135	.	C	T	75077.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=6.83;DP=5658;ExcessHet=43.6797;FS=16.868;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=43.43;MQRankSum=-1.046e+01;QD=13.67;ReadPosRankSum=-5.410e-01;SOR=1.771	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,86:273:99:0|1:95929092_T_C:3048,0,7585:95929092	1	0	20	0
chr2	96284585	96284585	C	T	exonic	SNRNP200	.	nonsynonymous SNV	SNRNP200:NM_014014:exon31:c.G4165A:p.V1389I,	Retinitis pigmentosa 33, Autosomal dominant	.	0	1411	103	8	0	119	0.0404624	0.9982	0.89	101450	Retinitis_pigmentosa|not_specified|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.001	B	0.012	B	0.000	D	1.000	D	0.005	N	1.34	T	-1.105	T	0.026	T	0.315	2.906	15.68	5.62	2.659	5.725	12.526	0.062	.	0.0038	0.00419329	0.0053	0.0003	0.0040	0	0.0017	0.0065	0.0055	0.0092	0.0051746	800	154602	rs143898031	0.0045	0.0046	0.0043	0.0048	0.0495	0.0045	0.0044	0.0448	0.0430	0.0010	0.0045	0.0198	0	0.0007	0.0495	0.0039	0.0068	0.0101	0.0036	0.0036	0.0034	0.0039	0.0083	0.0034	0.0033	0.0063	0.0058	0.0007	0.0044	0.0073	0.0205	0.0002	0.0007	0.0476	0.0037	0.0104	0.0083	0.141	0.25560	T	0.159	0.31527	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.31	0.10265	N	1.34	0.34841	T	-0.28	0.11547	N	0.291	0.32921	-1.1047	0.03567	T	0.026	0.11264	T	10	0.008113712	0.00184	T	0.008952	0.23583	T	0.062	0.17934	.	.	0.174091166621	0.17034	0.5685495379776625	0.56782	0.810597044278	0.66712	0.613193273544	0.54767	T	0.094437	0.39416	T	-0.457552	0.01018	T	-0.422057	0.30840	T	0.00818022676011606	0.00098	T	0.905909	0.66829	D	0.13796365	0.31925	0.070453815	0.14972	0.13796365	0.31925	0.070453815	0.14972	-6.034	0.46563	T	0.26735886023795424	0.36023	0.077	0.06295	B	.	.	3.656982	0.51934	23.2	0.99634088163219547	0.76203	0.96016	0.67153	D	AEFDBCI	0.560424	0.56884	D	-0.0620636731460172	0.39066	2.297824	0.168667584025889	0.48139	3.033977	0.999997737677715	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.801000	0.68775	7.664000	0.64404	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.719000	0.34739	0.0:0.92:0.0:0.08	12.526	0.55431	291	0.88420	DEAD/DEAH box helicase domain|Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.07143	2774.68	36	chr2	96284585	.	C	T	2774.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.01;DP=795;ExcessHet=0.3300;FS=5.389;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=17.02;ReadPosRankSum=-1.135e+00;SOR=1.150	GT:AD:DP:GQ:PL	0/1:28,35:63:99:1065,0,714	18	0	3	0
chr2	96354330	96354330	G	A	exonic	NCAPH	.	nonsynonymous SNV	NCAPH:NM_001281712:exon8:c.G742A:p.V248I	.	.	437	1078	7	0	0	7	0.00323625	.	.	697708	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.267	B	0.109	B	0.050	N	1.000	N	0.345	N	0.98	T	-1.065	T	0.044	T	0.108	0.954	8.892	2.65	0.230	1.498	12.988	0.054	.	0.0082	0.00359425	0.0063	0.0018	0.0067	0	0.0020	0.0093	0.0044	0.0016	0.0066364	1026	154602	rs61754144	0.0098	0.0098	0.0099	0.0096	0.0111	0.0096	0.0096	0.0110	0.0109	0.0016	0.0076	0.0177	0	0.0027	0.0055	0.0111	0.0110	0.0021	0.0075	0.0076	0.0082	0.0069	0.0122	0.0072	0.0070	0.0107	0.0102	0.0019	0.0395	0.0122	0.0202	0.0004	0.0020	0.0136	0.0103	0.0170	0.0021	0.218	0.21801	T	0.053	0.48080	T	0.267	0.31683	B	0.109	0.31370	B	0.049778	0.23131	N	0.482604	1	0.08975	N	0.69	0.16971	N	0.98	0.42122	T	-0.28	0.13805	N	0.021	0.01421	-1.0652	0.10502	T	0.044	0.18989	T	10	0.007361263	0.00167	T	.	.	.	0.054	0.15330	.	.	0.194818534648	0.19098	0.09275842440967638	0.09207	0.182198156154	0.20484	0.238210767508	0.02632	T	0.019661	0.15622	T	-0.599767	0.00146	T	-0.626339	0.10693	T	0.00918449090876896	0.00116	T	0.190581	0.02094	T	0.055584323	0.10820	0.06292865	0.12389	0.045065183	0.07311	0.06292865	0.12389	-4.241	0.29786	T	0.08707210750339724	0.05078	0.072	0.05317	B	.;.;.;.	.;.;.;.	0.392508	0.07640	4.306	0.94089715671242691	0.24244	0.36411	0.25527	N	AEFBCI	0.055691	0.10234	N	-0.986096710946056	0.08900	0.4190979	-0.960792081231845	0.10673	0.5390801	0.999978674152249	0.50053	0.722319	0.85440	0	0.724815	0.89359	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.58	2.65	0.30588	0.519000	0.22570	0.468000	0.18684	-0.120000	0.14102	0.001000	0.13787	0.000000	0.08366	0.127000	0.19450	0.0:0.0:0.5427:0.4573	12.988	0.58006	287	0.88635	.;.;.;.	.	.	.	.	.	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	0.02381	1692.98	37	chr2	96354330	.	G	A	1692.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.799;DP=940;ExcessHet=0.0000;FS=2.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.39;ReadPosRankSum=1.99;SOR=1.029	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,46:110:99:0|1:96354311_T_C:1707,0,2456:96354311	20	0	1	0
chr2	96816944	96816944	C	G	exonic	CNNM3	.	nonsynonymous SNV	CNNM3:NM_017623:exon1:c.C667G:p.P223A	.	.	445	1064	13	0	0	13	0.00607193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.137	B	0.115	B	0.013	U	1.000	N	-0.505	N	-2.2	D	-0.790	T	0.276	T	0.316	-1.517	0.016	0.887	-0.157	0.401	8.398	0.210	.	.	0.0123802	0.0649	0.25	0	0.0714	.	0.0814	0.0833	0.0609	0.0016817	260	154602	rs560855336	0.0036	0.0038	0.0033	0.0039	0.0616	0.0035	0.0034	0.0587	0.0575	0.0087	0.0013	0.0125	0.0616	0.0187	0.0106	0.0010	0.0058	0.0160	0.0066	0.0066	0.0056	0.0075	0.0328	0.0062	0.0061	0.0288	0.0272	0.0075	0	0.0009	0.0144	0.0328	0.0195	0.0068	0.0019	0.0068	0.0234	1.0	0.00964	T	0.919	0.02882	T	0.113	0.27402	B	0.07	0.31843	B	0.013284	0.28888	U	0.325525	0.999878	0.19925	N	0.76	0.19266	N	-2.2	0.86888	D	0.42	0.04694	N	0.126	0.11912	-0.7901	0.55724	T	0.276	0.64824	T	10	0.0015328825	0.00017	T	.	.	.	0.210	0.50028	.	.	0.0482279557977	0.04254	0.44931725001365397	0.44849	.	.	0.883661985397	0.94449	D	0.030216	0.21469	T	-0.345356	0.05026	T	-0.25392	0.49430	T	0.00379766356223546	0.00040	T	0.60064	0.22426	T	0.027182626	0.01873	0.04974611	0.07664	0.027182626	0.01873	0.04974611	0.07663	-3.47	0.18759	T	.	.	0.073	0.11124	B	.;.	.;.	0.973571	0.13505	10.03	0.50105670579270611	0.04326	0.04329	0.09888	N	AEFDBHCIJ	0.049719	0.08618	N	-1.40566180013837	0.02588	0.1145123	-1.38904731688883	0.03367	0.1569527	0.999999998007807	0.74766	0.437478	0.07067	0	0.218748	0.04544	0	0.519653	0.09787	0	0.603991	0.37454	0	.	.	3.93	0.887	0.18335	1.020000	0.29629	2.861000	0.35203	-0.472000	0.05088	0.001000	0.13787	1.000000	0.68203	0.169000	0.20946	0.3095:0.5406:0.1499:0.0	8.398	0.31729	132	0.94697	.;CNNM, transmembrane domain	.	.	.	.	.	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	0.04762	93.11	18	chr2	96816944	.	C	G	93.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.67;DP=442;ExcessHet=0.1072;FS=1.830;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=-2.890e-01;SOR=1.265	GT:AD:DP:GQ:PL	0/1:12,3:15:82:82,0,287	19	0	2	0
chr2	97185337	97185337	C	-	exonic	ANKRD36	.	frameshift deletion	ANKRD36:NM_001354587:exon29:c.1961delC:p.S655Qfs*12,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402796432	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8326.47	128	chr2	97185336	.	GC	G	8326.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-1.019e+00;DP=2996;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.34;MQRankSum=-5.879e+00;QD=3.14;ReadPosRankSum=0.218;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,18:146:99:0|1:97185336_GC_G:371,0,5299:97185336	3	0	18	0
chr2	97185340	97185340	C	G	exonic	ANKRD36	.	stopgain	ANKRD36:NM_001354587:exon29:c.C1964G:p.S655X,	.	.	497	736	288	1	0	290	0.164586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	3.980	20.4	-2.12	-0.664	0.022	1.483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs961387199	6.861e-07	2.052e-06	1.365e-06	0	2.527e-05	0	0	.	.	0	0	0	2.527e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.289078	0.09729	T	-0.653017	0.08744	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	2.985359	0.39833	21.0	0.68029575050880731	0.08533	0.00253	0.01392	N	AEFI	0.017170	0.00433	N	-0.957463532196475	0.09526	0.4512341	-1.36962598911469	0.03580	0.1672776	1.88742451027402E-5	0.02871	0.651	0.46895	0	0.633656	0.55848	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	1.06	-2.12	0.06766	-0.027000	0.12319	-1.673000	0.04942	-4.347000	0.00032	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.3106:0.2305:0.0:0.4589	1.483	0.02294	216	0.91608	.;.	.	.	.	.	.	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	0.4286	8253.51	130	chr2	97185340	.	C	G	8253.51	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-6.260e-01;DP=3017;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.09;MQRankSum=-5.804e+00;QD=3.07;ReadPosRankSum=0.809;SOR=0.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,18:148:99:0|1:97185336_GC_G:364,0,5396:97185336	3	0	18	0
chr2	97185341	97185341	-	G	exonic	ANKRD36	.	frameshift insertion	ANKRD36:NM_001354587:exon29:c.1965_1966insG:p.K656Efs*5,	.	.	498	735	288	1	0	290	0.164773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1297719451	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8208.47	129	chr2	97185341	.	A	AG	8208.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-5.080e-01;DP=3032;ExcessHet=30.0624;FS=4.061;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=47.00;MQRankSum=-5.688e+00;QD=3.04;ReadPosRankSum=0.926;SOR=0.382	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:130,18:148:99:0|1:97185336_GC_G:364,0,5396:97185336	3	0	18	0
chr2	97185346	97185349	TAAT	-	splicing	ANKRD36	.	.	.	.	.	500	739	281	2	0	285	0.161656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368364794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	8186.47	138	chr2	97185345	.	GTAAT	G	8186.47	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-8.550e-01;DP=3160;ExcessHet=30.0624;FS=4.006;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.429;MQ=46.27;MQRankSum=-5.168e+00;QD=2.89;ReadPosRankSum=1.92;SOR=0.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,18:157:99:0|1:97185336_GC_G:337,0,5737:97185336	3	0	18	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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	66907.47	297	chr2	97513220	.	G	A	66907.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-8.080e-01;DP=4067;ExcessHet=51.1880;FS=3.353;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=36.93;MQRankSum=-3.978e+00;QD=16.47;ReadPosRankSum=0.728;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,78:183:99:0|1:97513219_T_C:2959,0,4174:97513219	0	0	20	1
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	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	72691.47	317	chr2	97513227	.	T	C	72691.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.090e-01;DP=4346;ExcessHet=51.1880;FS=3.354;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.18;MQRankSum=-4.153e+00;QD=17.02;ReadPosRankSum=0.711;SOR=0.962	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,81:195:99:0|1:97513219_T_C:3058,0,4475:97513219	0	0	20	1
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	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	88962.47	372	chr2	97513244	.	G	T	88962.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.332e+00;DP=4960;ExcessHet=51.1880;FS=2.480;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.54;MQRankSum=-4.334e+00;QD=17.98;ReadPosRankSum=0.505;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,98:225:99:0|1:97513244_G_T:3733,0,4976:97513244	0	0	20	1
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	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	94248.47	391	chr2	97513253	.	A	G	94248.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.477e+00;DP=5204;ExcessHet=51.1880;FS=3.201;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.63;MQRankSum=-4.517e+00;QD=18.31;ReadPosRankSum=-7.500e-02;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,105:241:99:0|1:97513244_G_T:3964,0,5369:97513244	0	0	20	1
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	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	94578.47	389	chr2	97513254	.	C	T	94578.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.107e+00;DP=5218;ExcessHet=51.1880;FS=3.233;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.64;MQRankSum=-4.596e+00;QD=18.37;ReadPosRankSum=8.000e-03;SOR=0.948	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,105:241:99:0|1:97513244_G_T:3964,0,5369:97513244	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	103442.47	407	chr2	97513268	.	C	T	103442.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-9.430e-01;DP=5451;ExcessHet=51.1880;FS=3.211;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=37.99;MQRankSum=-5.011e+00;QD=19.09;ReadPosRankSum=-6.100e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,118:253:99:0|1:97513268_C_T:4507,0,5313:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	89883.47	410	chr2	97513270	.	A	C	89883.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.910e-01;DP=5493;ExcessHet=51.1880;FS=3.209;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.11;MQRankSum=-4.823e+00;QD=16.38;ReadPosRankSum=-7.770e-01;SOR=0.939	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,119:254:99:0|1:97513268_C_T:4529,0,5310:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	104689.47	413	chr2	97513271	.	T	C	104689.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-5.750e-01;DP=5492;ExcessHet=51.1880;FS=3.187;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.14;MQRankSum=-5.077e+00;QD=19.08;ReadPosRankSum=-6.500e-01;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:135,119:254:99:0|1:97513268_C_T:4530,0,5310:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	105794.47	411	chr2	97513281	.	C	T	105794.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.198e+00;DP=5582;ExcessHet=51.1880;FS=2.445;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=38.48;MQRankSum=-5.580e+00;QD=19.09;ReadPosRankSum=-8.110e-01;SOR=0.890	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,122:254:99:0|1:97513268_C_T:4544,0,5135:97513268	0	0	20	1
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	.;.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.5	27196.47	224	chr2	97513354	.	T	C	27196.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=1.66;DP=3353;ExcessHet=51.1880;FS=1.191;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=39.44;MQRankSum=-3.474e+00;QD=8.44;ReadPosRankSum=0.663;SOR=0.624	GT:AD:DP:GQ:PL	0/1:99,62:161:99:1283,0,2513	0	0	20	1
chr2	98823161	98823161	T	G	exonic	CRACDL	.	nonsynonymous SNV	CRACDL:NM_207362:exon7:c.A1112C:p.Q371P,	.	.	430	1088	4	0	0	4	0.00183486	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.009	B	0.011	B	0.058	N	1.000	N	1.78	L	0.78	T	-1.013	T	0.102	T	0.136	1.520	11.03	2.66	0.342	0.199	5.486	0.018	.	.	0.00139776	0.0026	0	0.0002	0.0002	0	0	0	0.0167	0.0012419	192	154602	rs550777088	0.0007	0.0007	0.0003	0.0011	0.0116	0.0006	0.0006	0.0109	0.0107	0	8.313e-05	0	6.031e-05	0	0.0007	9.254e-07	0.0003	0.0116	0.0003	0.0003	0.0002	0.0004	0.0098	0.0002	0.0002	0.0075	0.0068	0	0	0	0	0	0	0	0	0	0.0098	0.012	0.54683	D	0.316	0.19362	T	0.009	0.15093	B	0.011	0.15521	B	0.057527	0.22474	N	0.332317	1	0.08975	N	1.625	0.41611	L	0.78	0.49358	T	-2.97	0.61865	D	0.217	0.24260	-1.0134	0.25848	T	0.102	0.37568	T	10	0.0035612881	0.00064	T	.	.	.	0.018	0.03083	.	.	0.0482279557977	0.04254	0.09554252821815787	0.09486	.	.	0.384675502777	0.22917	T	0.061464	0.31659	T	-0.572121	0.00215	T	-0.585193	0.14084	T	0.0251451974749917	0.01291	T	0.39826	0.10085	T	0.26865736	0.49938	0.26105347	0.51877	0.26865736	0.49938	0.26105347	0.51876	-1.904	0.02838	T	.	.	0.068	0.02861	B	.	.	1.144406	0.15318	11.76	0.55207027565144229	0.05295	0.12973	0.17589	N	AEFDBHCI	0.204251	0.33070	N	-0.844261380789914	0.12192	0.5927648	-0.879500740801469	0.12579	0.6479389	0.999987583423739	0.51787	0.56387	0.32371	0	0.547309	0.14657	0	0.503968	0.08637	0	0.621717	0.48901	0	.	.	5.08	2.66	0.30672	-0.228000	0.09119	0.418000	0.18188	0.642000	0.52262	0.000000	0.06391	0.077000	0.22320	0.030000	0.13115	0.0:0.0914:0.1744:0.7342	5.486	0.16040	560	0.71333	.	.	.	.	.	.	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	0.02381	357.98	37	chr2	98823161	.	T	G	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.810e-01;DP=738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.33;ReadPosRankSum=1.50;SOR=0.724	GT:AD:DP:GQ:PL	0/1:26,17:43:99:372,0,691	20	0	1	0
chr2	104855597	104855597	T	0	exonic	POU3F3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	4762.41	11	chr2	104855597	.	T	C,*	4762.41	.	AC=25,1;AF=0.658,0.026;AN=38;BaseQRankSum=-6.230e-01;DP=340;ExcessHet=0.0665;FS=7.060;InbreedingCoeff=0.2714;MLEAC=26,1;MLEAF=0.684,0.026;MQ=60.00;MQRankSum=0.00;QD=16.71;ReadPosRankSum=0.298;SOR=0.767	GT:AD:DP:GQ:PL	0/1:11,3,0:14:48:48,0,285,80,293,374	3	9	6	2
chr2	108259015	108259015	G	0	exonic	SULT1C3	.	.	.	.	.	441	128	465	180	308	1133	0.763182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	55301.27	201	chr2	108259015	.	G	T,*	55301.27	.	AC=18,12;AF=0.429,0.286;AN=42;BaseQRankSum=2.01;DP=3832;ExcessHet=0.0944;FS=0.000;InbreedingCoeff=0.3000;MLEAC=18,12;MLEAF=0.429,0.286;MQ=60.00;MQRankSum=0.00;QD=15.51;ReadPosRankSum=-1.780e-01;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:119,0,99:218:99:.:.:3805,4163,9125,0,4962,4658	3	5	3	0
chr2	113182638	113182638	A	T	exonic	PSD4	.	nonsynonymous SNV	PSD4:NM_012455:exon2:c.A182T:p.Q61L,	.	.	427	1094	1	0	0	1	0.00045683	.	.	2760869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.299	B	0.023	B	.	.	1.000	N	0	N	2.94	T	-0.965	T	0.011	T	0.267	1.108	9.519	-1.29	-0.104	0.124	4.777	0.006	0.00197123809771	.	0.00159744	0.0012	0	8.646e-05	0	0	0	0	0.0091	0.0010608	164	154602	rs567818540	0.0006	0.0006	0.0003	0.0008	0.0091	0.0005	0.0005	0.0086	0.0083	0	0	0	2.523e-05	0	0.0003	1.799e-06	0.0008	0.0091	0.0003	0.0003	0.0002	0.0004	0.0089	0.0002	0.0002	0.0068	0.0061	0	0	6.536e-05	0	0	0	0	0	0	0.0089	0.063	0.36709	T	0.331	0.18505	T	0.198	0.32525	B	0.01	0.19966	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.94	0.09915	T	-0.24	0.10833	N	0.157	0.22614	-0.9654	0.38132	T	0.011	0.04274	T	9	0.0032184124	0.00055	T	0.001971	0.03535	T	0.006	0.00375	.	.	0.161926535498	0.15789	0.09463442489254394	0.09395	0.107375063509	0.12116	0.269537389278	0.06081	T	0.009704	0.08820	T	-0.589258	0.00169	T	-0.612949	0.11746	T	0.014441964044566	0.00292	T	0.287271	0.05164	T	0.1384202	0.32014	0.04487806	0.05914	0.1384202	0.32014	0.04487806	0.05914	-7.462	0.57343	T	.	.	0.121	0.41495	B	.;.	.;.	0.529952	0.08986	5.768	0.8285605611663388	0.14411	0.04225	0.09743	N	AEFBCI	0.030614	0.03115	N	-1.1933520115078	0.05100	0.231709	-1.29272063677462	0.04528	0.2137987	0.999675296146324	0.41644	0.722319	0.85440	0	0.698795	0.70079	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.47	-1.29	0.08805	0.045000	0.13898	-0.720000	0.07709	0.582000	0.30178	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.5858:0.4142:0.0:0.0	4.777	0.12557	607	0.67291	.;.	.	.	.	.	.	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	0.02381	1270.98	34	chr2	113182638	.	A	T	1270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.620e-01;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-3.350e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1285,0,1493	20	0	1	0
chr2	135822058	135822058	A	C	exonic	LCT	.	nonsynonymous SNV	LCT:NM_002299:exon5:c.T948G:p.I316M,	Lactase deficiency, congenital, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1466531	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.129	B	0.033	B	0.278	N	1.000	N	1.04	L	1.53	T	-1.044	T	0.045	T	0.237	1.688	11.60	-1.51	-0.131	-0.774	6.605	0.022	0.00563786899832	.	.	8.239e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs756598710	6.176e-06	6.157e-06	8.199e-06	4.136e-06	0.0010	2.91e-06	2.11e-06	0.0005	0.0003	2.995e-05	0	0	0	0	0.0010	0	1.661e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.203	0.27325	T	0.129	0.27048	B	0.033	0.22329	B	0.278047	0.14998	N	0.655857	1	0.08975	N	0.805	0.20218	L	1.53	0.30401	T	-0.44	0.14588	N	0.222	0.24883	-1.0443	0.16030	T	0.045	0.19275	T	10	0.11832267	0.22368	T	0.005638	0.14591	T	0.022	0.04323	0.488	0.57257	0.273070737957	0.26916	0.44146774659853383	0.44063	0.322355995525	0.34426	0.337416678667	0.16051	T	0.29603	0.66867	T	-0.319345	0.06951	T	-0.599639	0.12841	T	0.0964614748954773	0.11963	T	0.533947	0.17813	T	0.08122326	0.18651	0.06800228	0.14142	0.08122326	0.18651	0.06800228	0.14142	-4.155	0.26097	T	.	.	0.086	0.10449	B	.	.	0.656839	0.10255	6.988	0.89614279328242796	0.18949	0.04142	0.09627	N	AEDBI	0.125550	0.24211	N	-0.808892895158018	0.13082	0.6420493	-0.828621247264554	0.13803	0.7179937	0.999689154976683	0.41756	0.493124	0.18060	0	0.587265	0.34161	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.44	-1.51	0.08207	-0.758000	0.04872	0.210000	0.15951	0.756000	0.94297	0.001000	0.13787	0.083000	0.22416	0.989000	0.64315	0.2677:0.3325:0.3998:0.0	6.605	0.21912	239	0.90673	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2669.98	33	chr2	135822058	.	A	C	2669.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=928;ExcessHet=0.0000;FS=3.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=-1.580e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:127,111:238:99:2684,0,2955	20	0	1	0
chr2	135840873	135840873	A	G	exonic	MCM6	.	nonsynonymous SNV	MCM6:NM_005915:exon17:c.T2428C:p.Y810H,	Lactase persistence/nonpersistence, Autosomal dominant	.	0	1502	16	4	0	24	0.00792602	.	.	970197	not_specified|Lactase_persistence	MedGen:CN169374|MedGen:C1857231	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.628	P	0.773	P	0.001	D	0.984	D	1.67	L	4.05	T	-1.143	T	0.031	T	0.395	3.331	17.21	5.25	2.106	5.034	15.111	0.170	0.00816845344271	0.0002	0.000599042	0.0002	0.0002	0.0004	0	0	0.0002	0.0011	0.0004	0.0002652	41	154602	rs55660827	0.0008	0.0008	0.0008	0.0008	0.1335	0.0007	0.0007	0.1257	0.1226	0.0024	0.0005	0	0	0	0.1335	6.116e-05	0.0025	0.0004	0.0006	0.0006	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0017	9.618e-05	0	0.0026	0	0	0	0.1088	7.348e-05	0.0043	0.0002	0.128	0.26965	T	0.093	0.39799	T	0.628	0.40146	P	0.773	0.56974	P	0.000581	0.43095	D	0.210963	0.984289	0.40125	D	2.105	0.58435	M	4.05	0.03092	T	-2.21	0.49684	N	0.338	0.37923	-1.1426	0.01264	T	0.031	0.13374	T	10	0.03318864	0.01488	T	0.008168	0.21649	T	0.170	0.43303	.	.	0.363336886782	0.35939	0.5377150212763859	0.53696	0.657411678916	0.58695	0.728210806847	0.71246	T	0.24235	0.61107	T	-0.349618	0.04751	T	-0.423823	0.30638	T	0.0947053454181062	0.11764	T	0.960604	0.85218	D	0.25625196	0.48663	0.12922642	0.31075	0.25625196	0.48663	0.12922642	0.31074	-8.275	0.62928	D	.	.	0.194	0.41418	B	.	.	4.234975	0.64158	24.7	0.99772253282477041	0.86003	0.90224	0.51232	D	AEFDGBHIJ	0.588732	0.58588	D	0.420798480619193	0.62566	4.474676	0.449949719781267	0.64711	4.732958	0.999999963291514	0.74766	0.75658	0.98901	0	0.696144	0.67643	0	0.702456	0.68683	0	0.656636	0.63459	0	.	.	5.25	5.25	0.73169	5.130000	0.64587	11.163000	0.87713	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.111	0.72032	226	0.91233	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1235.98	34	chr2	135840873	.	A	G	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.213;DP=818;ExcessHet=0.0000;FS=1.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.453;SOR=0.567	GT:AD:DP:GQ:PL	0/1:65,52:117:99:1250,0,1667	20	0	1	0
chr2	151379533	151379533	A	-	exonic	TNFAIP6	.	nonframeshift deletion	TNFAIP6:NM_007115:exon6:c.834delA:p.X278X,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/3:18,0,0,5:23:55:55,109,520,109,520,520,0,411,411,396	1	6	10	0
chr2	151379533	151379533	-	A	exonic	TNFAIP6	.	nonframeshift insertion	TNFAIP6:NM_007115:exon6:c.834dupA:p.X278delinsX,	.	.	840	267	190	178	47	593	0.505556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	7392.52	39	chr2	151379531	.	TAA	TA,T,TAAA	7392.52	.	AC=24,2,2;AF=0.571,0.048,0.048;AN=42;BaseQRankSum=0.116;DP=709;ExcessHet=6.1794;FS=0.000;InbreedingCoeff=-0.2796;MLEAC=24,2,2;MLEAF=0.571,0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=0.839;SOR=0.651	GT:AD:DP:GQ:PL	0/3:18,0,0,5:23:55:55,109,520,109,520,520,0,411,411,396	1	6	10	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.753	P	0.241	B	0.000	D	1.000	N	1.04	L	.	.	-1.008	T	0.064	T	0.589	2.522	14.39	4.94	1.467	2.498	9.504	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4167	1342.85	104	chr2	157321525	.	C	G	1342.85	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.190e+00;DP=3903;ExcessHet=17.4423;FS=278.896;InbreedingCoeff=-0.6111;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.51;ReadPosRankSum=0.851;SOR=12.437	GT:AD:DP:GQ:PL	0/1:124,51:175:99:125,0,2476	3	0	15	3
chr2	159229661	159229661	G	A	exonic	TANC1	.	nonsynonymous SNV	TANC1:NM_001350062:exon24:c.G3632A:p.R1211H	.	.	439	1081	2	0	0	2	0.000924214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.995	D	0.758	P	0.000	D	1.000	D	2.045	M	-0.87	T	-0.120	T	0.504	D	0.455	5.393	34	5.91	2.802	9.824	20.293	0.516	0.0831228060382	0.0002	0.00119808	0.0007	0	0.0006	0.0001	0	0.0005	0.0022	0.0025	0.0006404	99	154602	rs201882245	0.0005	0.0005	0.0004	0.0006	0.0028	0.0005	0.0004	0.0025	0.0024	8.961e-05	0.0004	0.0003	0	7.496e-05	0.0014	0.0004	0.0006	0.0028	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	4.817e-05	0	0.0001	0.0006	0	0.0002	0	0.0003	0.0005	0.0027	0.017	0.51248	D	0.003	0.76473	D	0.995	0.67487	D	0.758	0.56327	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.095	0.58118	M	-0.87	0.74583	T	-3.6	0.69357	D	0.507	0.53884	-0.1203	0.79627	T	0.504	0.81315	D	9	0.017304182	0.00368	T	0.083123	0.74047	D	0.516	0.79340	.	.	0.78657237741	0.78459	0.5392971891969099	0.53854	0.719350977625	0.62131	0.510847449303	0.40342	T	0.594865	0.86930	D	-0.244414	0.14792	T	-0.127851	0.61152	T	0.117754386827483	0.14208	T	0.996967	0.98830	D	0.3567762	0.57590	0.16929331	0.38953	0.3567762	0.57590	0.16929331	0.38952	-10.049	0.74204	D	.	.	0.674	0.71913	P	.	.	5.377096	0.90129	31	0.99927895526742894	0.99163	0.99830	0.99731	D	AEFDBI	0.902390	0.85023	D	0.810506191536066	0.86760	8.989708	0.839601065884331	0.92395	11.40132	1.0	0.98316	0.67177	0.52595	0	0.588066	0.40923	0	0.566861	0.19136	0	0.711	0.71501	0	.	.	5.91	5.91	0.95240	9.958000	0.99013	11.850000	0.98050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.293	0.98545	652	0.62785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1301.98	33	chr2	159229661	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.146e+00;SOR=0.641	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1316,0,1402	20	0	1	0
chr2	164939509	164939509	A	G	exonic	SLC38A11	.	nonsynonymous SNV	SLC38A11:NM_001351539:exon3:c.T112C:p.S38P	.	.	444	1074	4	0	0	4	0.00185874	.	.	2434660	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.269	B	0.431	B	0.001	D	0.996	D	1.78	L	4.37	T	-0.998	T	0.013	T	0.684	3.140	16.50	3.29	0.980	1.303	6.204	0.154	0.0107506147271	0.0003	.	0.0003	9.682e-05	0.0003	0	0	0.0004	0.0022	0.0002	0.0002911	45	154602	rs138491284	0.0003	0.0003	0.0002	0.0003	0.0050	0.0002	0.0002	0.0036	0.0031	0.0001	0.0003	0.0035	0	0	0.0050	0.0002	0.0007	0.0002	0.0003	0.0003	0.0003	0.0004	0.0011	0.0003	0.0002	0.0007	0.0006	9.649e-05	0	0.0011	0.0040	0	0	0	0.0002	0.0005	0.0004	0.185	0.32929	T	0.116	0.56640	T	0.228	0.31731	B	0.305	0.45421	B	0.000545	0.43413	D	0.273195	0.993092	0.42998	D	2.19	0.61577	M	4.37	0.02277	T	-2.15	0.54382	N	0.755	0.76760	-0.9981	0.30451	T	0.013	0.05225	T	10	0.07626912	0.11892	T	0.010751	0.27641	T	0.154	0.40340	.	.	0.0920862733494	0.08535	0.881095751847942	0.88077	0.37277209944	0.38762	0.485611915588	0.36831	T	0.05322	0.29381	T	-0.277027	0.10986	T	-0.32973	0.41498	T	0.369832158088684	0.27791	T	0.815518	0.47040	T	0.7433151	0.80482	0.7608945	0.85873	0.7433151	0.80484	0.7608945	0.85874	-10.354	0.87543	D	.	.	0.672	0.72197	P	.;.;.;.	.;.;.;.	2.920864	0.38776	20.8	0.99848558492442641	0.92838	0.87534	0.47104	D	AEFBI	0.598210	0.59169	D	-0.0698936984524735	0.38719	2.27201	-0.0174612701281529	0.38927	2.300438	0.924054684441534	0.26766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.87	3.29	0.36801	0.779000	0.26407	4.341000	0.43058	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.813000	0.38311	0.5919:0.2619:0.0:0.1462	6.204	0.19805	785	0.46916	.;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain;Amino acid transporter, transmembrane domain	.	.	.	.	.	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	0.04762	1768.11	33	chr2	164939509	.	A	G	1768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.192e+00;DP=797;ExcessHet=0.1072;FS=2.201;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-2.460e-01;SOR=0.502	GT:AD:DP:GQ:PL	0/1:28,37:65:99:880,0,664	19	0	2	0
chr2	176169227	176169227	C	T	exonic	HOXD3	.	nonsynonymous SNV	HOXD3:NM_006898:exon3:c.C113T:p.T38M,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.245	B	0.095	B	0.004	N	0.995	N	0	N	-2.47	D	-0.477	T	0.346	T	0.279	3.175	16.62	4.43	1.335	2.074	12.198	0.296	0.125538777739	0.0020	0.00239617	0.0010	0.0069	0.0007	0.0001	0	0.0001	0	0.0018	0.0008732	135	154602	rs75250034	0.0004	0.0004	0.0004	0.0004	0.0067	0.0004	0.0004	0.0059	0.0057	0.0067	0.0007	7.652e-05	0	0	0.0002	0.0002	0.0006	0.0016	0.0021	0.0021	0.0021	0.0021	0.0069	0.0019	0.0018	0.0063	0.0060	0.0069	0	0.0012	0	0.0002	0	0.0034	0.0001	0.0005	0.0008	0.007	0.63226	D	0.017	0.60337	D	0.245	0.31074	B	0.095	0.30245	B	0.004259	0.33945	N	0.348948	0.994977	0.23401	N	1.445	0.36358	L	-2.47	0.88997	D	-2.07	0.47344	N	0.339	0.39153	-0.4773	0.69465	T	0.346	0.71083	T	10	0.008280486	0.00188	T	0.125539	0.80707	D	0.296	0.61616	.	.	0.894152575574	0.89310	0.28164369580082327	0.28077	.	.	0.364167243242	0.19991	T	0.342794	0.71152	T	-0.309033	0.07833	T	-0.213095	0.53399	T	0.0150988276773107	0.00327	T	0.822518	0.48242	T	0.061668914	0.12795	0.0852064	0.19658	0.061668914	0.12795	0.0852064	0.19657	-3.691	0.19185	T	.	.	0.119	0.26794	B	.;.;.	.;.;.	3.139192	0.42451	21.5	0.99801618769258038	0.88639	0.50390	0.28652	D	AEFBI	0.389186	0.46850	N	-0.36409199744194	0.26757	1.462778	-0.243420437521962	0.29997	1.685314	0.97045366423147	0.29209	0.646311	0.45356	0	0.59043	0.45803	0	0.563428	0.18855	0	0.699875	0.68795	0	.	.	5.32	4.43	0.52967	2.157000	0.41946	4.794000	0.44921	0.599000	0.40250	0.013000	0.18845	0.994000	0.32194	0.558000	0.30364	0.0:0.8281:0.1719:0.0	12.198	0.53618	515	0.74782	.;.;.	.	.	.	.	.	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	0.02381	2135.98	34	chr2	176169227	.	C	T	2135.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=895;ExcessHet=0.0000;FS=10.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.37;ReadPosRankSum=1.82;SOR=0.566	GT:AD:DP:GQ:PL	0/1:59,80:139:99:2150,0,1355	20	0	1	0
chr2	178583088	178583088	T	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon141:c.A38520C:p.K12840N	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	.	.	.	.	.	.	.	.	.	.	449663	Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.351	B	0.172	B	.	.	1.000	D	1.27	L	-0.24	T	-0.901	T	0.177	T	0.093	2.589	14.62	0.523	0.134	0.716	5.602	0.109	0.0282374492652	.	0.000199681	1.763e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs574615636	5.482e-06	5.472e-06	2.727e-06	8.266e-06	6.973e-05	2.36e-06	1.7e-06	3.001e-05	2.042e-05	0	0	0	0	0	0	1.801e-06	0	6.973e-05	6.572e-06	6.563e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.059	0.48642	T	.	.	.	0.351	0.33667	B	0.172	0.35394	B	.	.	.	.	0.99819	0.44615	D	0.91	0.23283	L	-0.24	0.66834	T	-3.63	0.72594	D	0.285	0.53532	-0.9006	0.47931	T	0.177	0.52162	T	9	0.11117378	0.20808	T	0.028237	0.50944	D	0.109	0.30843	0.602	0.73346	0.158396225186	0.15383	.	.	0.145381915845	0.16431	0.427637815475	0.28886	T	.	.	.	-0.351603	0.04626	T	-0.506162	0.21710	T	0.159365079038302	0.17824	T	0.838916	0.51225	T	.	.	.	.	.	.	.	.	-4.979	0.36611	T	.	.	0.313	0.53974	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.552361	0.19892	14.49	0.93587092000938976	0.23437	0.79817	0.39627	D	AEFBI	0.403755	0.47731	N	-0.319887950044005	0.28393	1.565702	-0.286969550358989	0.28527	1.591286	0.0558727542921381	0.15034	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.836244	0.99985	0	.	.	5.91	0.523	0.16255	0.454000	0.21539	.	.	0.665000	0.62972	0.998000	0.41325	0.991000	0.31484	0.997000	0.79791	0.1178:0.284:0.0:0.5982	5.602	0.16638	420	0.81451	.;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1947.98	36	chr2	178583088	.	T	G	1947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.810e-01;DP=958;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.821;SOR=0.772	GT:AD:DP:GQ:PL	0/1:72,77:149:99:1962,0,1855	20	0	1	0
chr2	178620349	178620349	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon76:c.C18977T:p.T6326I	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	1518	2	0	0	2	0.000658328	.	.	881830	Dilated_cardiomyopathy_1G|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J	MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.993	D	0.883	P	.	.	1.000	D	1.845	L	-0.98	T	0.042	D	0.531	D	0.446	2.874	15.57	5.91	2.802	9.807	20.298	0.558	0.0251064072418	.	.	8.723e-06	0	0	0	0	1.532e-05	0	0	6.5e-06	1	154602	rs775807236	6.197e-06	6.156e-06	1.094e-05	1.386e-06	0.0007	2.92e-06	2.11e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.712e-06	3.338e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.52492	T	.	.	.	0.993	0.65571	D	0.883	0.62698	P	.	.	.	.	0.99998	0.54805	D	2.175	0.60977	M	-0.98	0.75789	T	-3.82	0.73684	D	0.401	0.47765	0.042	0.83095	D	0.531	0.82607	D	9	0.42215538	0.56936	T	0.025106	0.48090	D	0.558	0.81831	0.521	0.62368	0.593515057505	0.59029	.	.	0.417649176874	0.42380	0.534613609314	0.43684	T	.	.	.	0.0641183	0.60126	T	-0.145675	0.59624	T	0.270884570255741	0.23785	T	0.880212	0.61002	D	.	.	.	.	.	.	.	.	-1.682	0.02669	T	.	.	0.394	0.59234	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.313778	0.45546	22.1	0.93473634647096504	0.23266	0.99291	0.94038	D	AEFBI	0.933014	0.92424	D	0.878904204322018	0.90689	10.51913	0.898551076590109	0.95508	13.69017	0.999999999999993	0.74766	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.91	5.91	0.95240	9.940000	0.98890	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	20.298	0.98571	424	0.81215	.;.;Immunoglobulin-like domain;Immunoglobulin-like domain;.;Immunoglobulin-like domain;Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1714.98	35	chr2	178620349	.	G	A	1714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=919;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.67;ReadPosRankSum=-1.740e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:83,64:147:99:1729,0,2360	20	0	1	0
chr2	178684680	178684680	G	A	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon128:c.C28892T:p.P9631L	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	1485	36	1	0	38	0.012633	.	.	56038	Brugada_syndrome|Ventricular_tachycardia|Supraventricular_tachycardia|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Early-onset_myopathy_with_fatal_cardiomyopathy|Tibial_muscular_dystrophy|Cardiomyopathy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1G|not_specified|not_provided	MONDO:MONDO:0015263,MedGen:C1142166,OMIM:PS601144,Orphanet:130|EFO:EFO_0005306,Human_Phenotype_Ontology:HP:0004756,MONDO:MONDO:0005477,MedGen:C0042514|Human_Phenotype_Ontology:HP:0004755,MedGen:C0039240|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.001	B	0.002	B	.	.	1.000	D	1.195	L	0.01	T	-0.886	T	0.128	T	0.297	1.657	11.50	4.76	1.526	2.428	9.833	0.099	0.0676674220286	0.0043	0.00179712	0.0051	0.0011	0.0040	0	0.0003	0.0077	0.0068	0.0020	0.0051552	797	154602	rs72650031	0.0062	0.0062	0.0062	0.0062	0.0138	0.0061	0.0061	0.0113	0.0104	0.0011	0.0048	0.0298	0	0.0008	0.0138	0.0066	0.0078	0.0019	0.0044	0.0044	0.0046	0.0043	0.0061	0.0041	0.0040	0.0056	0.0054	0.0013	0	0.0051	0.0271	0	0.0004	0.0170	0.0061	0.0066	0.0017	0.018	0.50676	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.953341	0.81001	D	.	.	.	0.01	0.62459	T	-4.2	0.75695	D	0.307	0.36884	-0.8865	0.49231	T	0.128	0.43564	T	9	0.0047104955	0.00099	T	0.067667	0.70230	D	0.099	0.28413	.	.	0.399449838166	0.39556	.	.	0.0853964992584	0.09651	0.350199282169	0.17950	T	.	.	.	-0.406057	0.02112	T	-0.34951	0.39260	T	0.0146866148041845	0.00305	T	0.670133	0.37107	T	.	.	.	.	.	.	.	.	-5.785	0.44513	T	.	.	0.118	0.24054	B	.;.;.;.	.;.;.;.	2.575469	0.33383	19.32	0.83374782489182619	0.14691	0.90434	0.51607	D	AEFBI	0.475036	0.51905	N	-0.154510048558569	0.35044	2.007901	-0.0064238421302907	0.39425	2.337319	0.0313608349272037	0.13997	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	4.76	0.60189	1.502000	0.35312	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0699:0.0:0.7916:0.1385	9.833	0.40121	393	0.83123	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1272.98	36	chr2	178684680	.	G	A	1272.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=787;ExcessHet=0.0000;FS=1.910;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.20;ReadPosRankSum=0.318;SOR=0.581	GT:AD:DP:GQ:PL	0/1:31,43:74:99:1287,0,796	20	0	1	0
chr2	178767787	178767787	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon39:c.G9305A:p.R3102H	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	1521	1	0	0	1	0.000328623	.	.	102219	Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Dilated_cardiomyopathy_1G|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Early-onset_myopathy_with_fatal_cardiomyopathy|Hypertrophic_cardiomyopathy_9|not_provided	MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MONDO:MONDO:0013412,MedGen:C1861065,OMIM:613765|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.1	L	3.54	T	-1.210	T	0.048	T	0.708	3.706	18.82	6.03	2.854	3.656	20.567	0.267	0.0324243537786	0.0002	0.000199681	2.473e-05	0	0	0	0	1.499e-05	0	0.0001	3.88e-05	6	154602	rs368786036	5.678e-05	5.678e-05	5.854e-05	5.5e-05	8.961e-05	4.676e-05	4.301e-05	5.074e-05	4.653e-05	8.961e-05	0	0	2.519e-05	0	0	6.295e-05	4.967e-05	6.956e-05	5.253e-05	5.25e-05	5.139e-05	5.373e-05	0.0002	2.556e-05	1.829e-05	3.762e-05	2.575e-05	2.406e-05	0	0	0	0	0	0	8.82e-05	0	0.0002	0.188	0.27544	T	0.086	0.40909	T	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.997926	0.50806	D	.	.	.	3.54	0.04799	T	-2.99	0.70793	D	0.285	0.65930	-1.2098	0.00090	T	0.048	0.20632	T	9	0.17465985	0.32356	T	0.032424	0.54256	D	0.267	0.58126	.	.	0.227260227426	0.22338	.	.	0.515550123524	0.49465	0.668910264969	0.62682	T	.	.	.	-0.188343	0.22501	T	-0.27165	0.47652	T	0.535782918243469	0.33948	D	0.890711	0.66542	D	.	.	.	.	.	.	.	.	-4.581	0.31932	T	.	.	0.162	0.35849	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.986474	0.58638	24.0	0.98327127785041168	0.40300	0.97084	0.72596	D	AEFDBI	0.764335	0.70116	D	0.672642266923154	0.77842	6.752888	0.707935800435143	0.82984	7.903648	1.0	0.98316	0.516011	0.20929	0	0.588066	0.40923	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	6.03	6.03	0.97798	3.724000	0.54690	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.567	0.99354	340	0.86005	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1929.98	33	chr2	178767787	.	C	T	1929.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=977;ExcessHet=0.0000;FS=3.551;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.329e+00;SOR=0.797	GT:AD:DP:GQ:PL	0/1:94,74:168:99:1944,0,2378	20	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.482	17.82	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59e-06	3.296e-05	1.582e-06	1.598e-06	1.463e-05	2.6e-07	1e-07	.	.	0	0	0	0	2.117e-05	0	0	0	1.463e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36496	0.87625	D	0.286463	0.87465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.078213	0.96114	35	0.99490046545528399	0.67403	0.99024	0.90115	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:17,0,12:32:92:.:.:92,171,759,0,266,176	0	0	8	4
chr2	186504215	186504215	G	C	splicing	ZC3H15	NM_018471:exon6:c.717+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.361	17.33	5.01	2.497	9.756	18.684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0056	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0006	9.356e-05	0.0004	0.0002	0.0001	0.0009	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300962	0.83045	D	0.194535	0.82825	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.169298	0.96223	35	0.9948224112750832	0.66959	0.99140	0.91816	D	ALL	.	.	.	1.14176403290314	0.98836	19.55828	0.977087065195557	0.98133	17.50421	1.0	0.98316	0.17398	0.03958	1	0.011162	0.00042	3	0.199235	0.04519	0	0.113624	0.03431	2	0.984412	0.91620	5.01	5.01	0.66477	9.889000	0.98569	11.679000	0.94198	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	18.684	0.91518	410	0.82135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1309.41	47	chr2	186504215	.	G	A,C	1309.41	.	AC=8,9;AF=0.235,0.265;AN=34;BaseQRankSum=1.04;DP=1083;ExcessHet=35.6159;FS=116.098;InbreedingCoeff=-0.7527;MLEAC=9,11;MLEAF=0.265,0.324;MQ=60.00;MQRankSum=0.00;QD=1.69;ReadPosRankSum=1.80;SOR=10.529	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:17,0,12:32:92:.:.:92,171,759,0,266,176	0	0	8	4
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-1.67	N	.	.	-0.977	T	0.034	T	0.646	1.588	11.27	5.02	1.896	6.225	14.399	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	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	0.5	5227.32	96	chr2	197523648	.	T	C	5227.32	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-1.034e+00;DP=1714;ExcessHet=36.0830;FS=391.571;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.526;MQ=60.00;MQRankSum=0.00;QD=3.31;ReadPosRankSum=0.282;SOR=12.797	GT:AD:DP:GQ:PL	0/1:35,29:64:99:276,0,500	0	0	19	2
chr2	199819527	199819527	-	A	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441dupT:p.*148delinsLNLRSPL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/1:15,4,4,0:23:5:31,0,335,5,223,334,91,333,335,431	2	0	4	0
chr2	199819527	199819527	-	AA	exonic	FTCDNL1	.	stoploss	FTCDNL1:NM_001350853:exon4:c.441_442insTT:p.*148delinsFKLEVPFMSHTLLMQEEL*,	.	.	465	530	157	5	365	532	0.136104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	1928.6	30	chr2	199819526	.	TA	T,TAA,TAAA	1928.6	.	AC=4,14,2;AF=0.095,0.333,0.048;AN=42;BaseQRankSum=0.562;DP=865;ExcessHet=26.8223;FS=1.986;InbreedingCoeff=-0.6840;MLEAC=3,15,2;MLEAF=0.071,0.357,0.048;MQ=60.00;MQRankSum=0.00;QD=2.80;ReadPosRankSum=-2.030e-01;SOR=0.840	GT:AD:DP:GQ:PL	0/1:15,4,4,0:23:5:31,0,335,5,223,334,91,333,335,431	2	0	4	0
chr2	199819716	199819716	C	T	exonic	FTCDNL1	.	nonsynonymous SNV	FTCDNL1:NM_001350853:exon4:c.G253A:p.V85M	.	.	430	1038	52	2	0	56	0.0262664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00758786	0.0224	0	0	0	.	0.0272	0	0.0223	0.0026908	416	154602	rs61751881	0.0077	0.0067	0.0063	0.0088	0.0243	0.0075	0.0074	0.0233	0.0229	0.0007	0.0018	0.0363	0	0.0004	0.0147	0.0049	0.0085	0.0243	0.0044	0.0045	0.0040	0.0049	0.0253	0.0042	0.0041	0.0216	0.0202	0.0008	0.0044	0.0031	0.0360	0.0004	0.0004	0.0204	0.0047	0.0066	0.0253	0.039	0.42487	D	0.156	0.32675	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.58	0.81987	D	-1.31	0.32791	N	0.114	0.10198	.	.	.	.	.	.	.	0.005957812	0.00134	T	.	.	.	.	.	.	.	.	.	0.41017121169101334	0.40933	.	.	0.414369285107	0.27061	T	0.413499	0.76734	T	-0.373465	0.03422	T	-0.290309	0.45740	T	.	.	.	0.741226	0.36032	T	0.044206727	0.07027	0.17805137	0.40449	0.044206727	0.07027	0.17805137	0.40448	-5.733	0.43986	T	.	.	0.155	0.34339	B	.;.	.;.	0.792175	0.11628	8.213	0.93346543586921327	0.23079	0.06193	0.12178	N	AEFDBI	0.079815	0.16128	N	.	.	.	.	.	.	0.972067605232243	0.29339	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	4.59	2.77	0.31614	0.256000	0.18120	-1.824000	0.04659	0.542000	0.25261	0.120000	0.23175	0.000000	0.08366	0.029000	0.12982	0.0:0.6286:0.1793:0.192	4.77	0.12523	648	0.63242	Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain;Formiminotransferase, N-terminal subdomain|Formiminotransferase, N-terminal subdomain	.	.	.	.	.	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	0.02381	865.98	36	chr2	199819716	.	C	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.070e-01;DP=834;ExcessHet=0.0000;FS=4.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.823;SOR=0.388	GT:AD:DP:GQ:PL	0/1:30,35:65:99:880,0,754	20	0	1	0
chr2	210205678	210205678	C	G	exonic	ACADL	.	nonsynonymous SNV	ACADL:NM_001608:exon6:c.G722C:p.G241A,	.	.	1	1501	20	0	0	20	0.00661813	.	.	584608	Long_chain_acyl-CoA_dehydrogenase_deficiency|not_specified|not_provided	MONDO:MONDO:0020531,MedGen:C0220711|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.999	D	0.97	D	0.000	D	1.000	D	3.455	M	-5.89	D	1.020	D	0.987	D	0.854	4.697	26.0	5.28	2.479	7.244	18.927	0.921	0.63598817047	0.0004	0.000998403	0.0016	9.619e-05	0.0033	0	0	0.0015	0.0044	0.0033	0.0014489	224	154602	rs146511220	0.0010	0.0010	0.0009	0.0012	0.0285	0.0010	0.0010	0.0249	0.0235	0.0008	0.0028	0.0076	0	0	0.0285	0.0005	0.0020	0.0037	0.0010	0.0010	0.0011	0.0010	0.0035	0.0009	0.0009	0.0022	0.0018	0.0002	0	0.0024	0.0081	0	0	0.0102	0.0008	0.0047	0.0035	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.75	0.95014	H	-5.89	0.99422	D	-5.68	0.87223	D	0.925	0.92901	1.020	0.97542	D	0.987	0.99627	D	10	0.09855232	0.17825	T	0.635988	0.96886	D	0.921	0.98003	.	.	0.989258733682	0.98913	0.8871817779027943	0.88687	0.870941214275	0.69394	0.596519589424	0.52413	T	0.964385	0.99563	D	0.177404	0.71805	D	0.481532	0.94224	D	0.141457641080211	0.16401	T	0.998278	0.99180	D	0.90376395	0.91722	0.87441087	0.93172	0.90376395	0.91723	0.87441087	0.93172	-12.863	0.88791	D	.	.	0.386	0.58779	A	.	.	4.719728	0.75909	26.4	0.99859088192806411	0.93729	0.97986	0.78653	D	AEFI	0.939429	0.94001	D	0.951513222882751	0.94044	12.46159	0.877547582407522	0.94517	12.824	0.999999513392346	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.28	5.28	0.74118	7.340000	0.78530	5.970000	0.51981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.927	0.92523	703	0.57489	Acyl-CoA oxidase/dehydrogenase, central domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	748.98	34	chr2	210205678	.	C	G	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.576;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.02;ReadPosRankSum=-6.270e-01;SOR=0.664	GT:AD:DP:GQ:PL	0/1:51,32:83:99:763,0,1408	20	0	1	0
chr2	218367059	218367059	G	C	exonic	CATIP	.	nonsynonymous SNV	CATIP:NM_001320865:exon8:c.G824C:p.G275A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.301	B	0.131	B	0.000	D	1.000	N	1.32	L	.	.	-0.999	T	0.066	T	0.242	1.595	11.29	3.77	2.617	1.335	7.381	0.068	0.00188443227756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.553	0.06523	T	1.0	0.01155	T	0.301	0.32572	B	0.131	0.32951	B	0.000158	0.49130	D	0.136806	1	0.08975	N	1.895	0.50365	L	.	.	.	0.07	0.06138	N	0.108	0.09349	-0.9987	0.30283	T	0.066	0.27260	T	9	0.09103069	0.15910	T	0.001884	0.03299	T	0.068	0.19811	0.365	0.37199	0.352262096564	0.34836	0.6543297385516778	0.65368	0.84883214251	0.68431	.	.	.	0.028442	0.20604	T	-0.143953	0.29263	T	-0.444555	0.28299	T	0.243625177241514	0.22585	T	0.744226	0.36418	T	0.07430169	0.16664	0.07193831	0.15463	0.07430169	0.16664	0.07193831	0.15462	-4.228	0.27155	T	.	.	0.113	0.22171	B	.	.	2.525521	0.32641	19.10	0.98694282300634018	0.44809	0.23036	0.21945	N	AEFDGBCI	0.116996	0.22939	N	-0.454088650901941	0.23602	1.26857	-0.401653684087464	0.24949	1.369143	0.999940431683214	0.47345	0.541725	0.22260	1	0.459889	0.06624	1	0.536957	0.11973	0	0.562822	0.20929	0	.	.	4.72	3.77	0.42499	0.915000	0.28260	4.693000	0.44374	0.676000	0.76740	0.107000	0.22934	0.997000	0.33255	0.996000	0.76049	0.0:0.153:0.5638:0.2832	7.381	0.26027	899	0.25060	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1055.98	33	chr2	218367059	.	G	C	1055.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.640e-01;DP=769;ExcessHet=0.0000;FS=2.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=-4.330e-01;SOR=0.436	GT:AD:DP:GQ:PL	0/1:38,44:82:99:1070,0,955	20	0	1	0
chr2	219608392	219608392	A	G	exonic	STK11IP	.	nonsynonymous SNV	STK11IP:NM_052902:exon14:c.A1565G:p.E522G,	.	.	371	1145	5	1	0	7	0.00304745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.119	B	0.024	B	0.048	N	1.000	N	1.1	L	3.37	T	-0.980	T	0.014	T	0.151	1.417	10.68	-1.48	-0.066	0.139	1.525	0.047	0.00217011080565	0.0002	0.000798722	0.0003	0.0003	0	0	0	0.0003	0	0.0007	0.0002135	33	154602	rs369827406	0.0003	0.0003	0.0003	0.0003	0.0152	0.0003	0.0002	0.0126	0.0117	0.0002	0.0005	0.0012	0	0	0.0152	0.0002	0.0008	0.0005	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0011	0.0009	7.225e-05	0	0.0016	0.0003	0	0	0.0102	0.0003	0	0.0004	0.15	0.24661	T	0.005	0.72224	D	.	.	.	.	.	.	0.048305	0.01984	N	2.111440	1	0.08975	N	.	.	.	3.37	0.05847	T	-1.98	0.45769	N	0.154	0.15888	-0.9796	0.35094	T	0.014	0.05465	T	10	0.010678828	0.00237	T	0.00217	0.04071	T	0.047	0.12962	.	.	0.0884992946249	0.08302	0.2006983539454964	0.19986	.	.	0.207448452711	0.00708	T	0.013502	0.11669	T	-0.273437	0.11377	T	-0.63055	0.10373	T	0.00765861515961044	0.00089	T	0.288971	0.05229	T	0.058749415	0.11856	0.040235624	0.04303	0.058749415	0.11856	0.040235624	0.04302	-4.831	0.34951	T	.	.	0.080	0.07985	B	.	.	0.984802	0.13624	10.16	0.94235525896982819	0.24496	0.12790	0.17481	N	AEFDBI	0.069180	0.13680	N	-0.944707940669642	0.09812	0.466048	-0.996344348451302	0.09867	0.4934386	0.962008218869376	0.28592	0.719381	0.83141	0	0.723133	0.82719	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.44	-1.48	0.08286	0.245000	0.17917	0.898000	0.22526	0.756000	0.94297	0.208000	0.24400	0.033000	0.21346	0.313000	0.24807	0.3672:0.212:0.0775:0.3432	1.525	0.02371	147	0.94143	.	.	.	.	.	.	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	1	0	0	0	0.02381	498.98	33	chr2	219608392	.	A	G	498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.360e+00;DP=767;ExcessHet=0.0000;FS=6.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=-8.590e-01;SOR=1.144	GT:AD:DP:GQ:PL	0/1:27,19:46:99:513,0,851	20	0	1	0
chr2	221482373	221482373	T	C	exonic	EPHA4	.	nonsynonymous SNV	EPHA4:NM_001304537:exon4:c.A1144G:p.T382A	.	.	.	.	.	.	.	.	.	.	.	3242383	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.376	B	0.214	B	0.000	D	1.000	D	2.035	M	0.54	T	-0.739	T	0.201	T	0.591	3.503	17.90	6.06	2.324	6.083	16.609	0.151	0.0234163086512	.	0.000199681	3.44e-05	0	0	0	0	1.528e-05	0	0.0002	3.23e-05	5	154602	rs537001502	3.578e-05	3.557e-05	1.913e-05	5.267e-05	0.0005	2.778e-05	2.516e-05	0.0004	0.0003	0	0	0	0	0	0.0002	5.426e-06	5.002e-05	0.0005	6.565e-06	6.561e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.005	0.63226	D	0.101	0.38742	T	0.376	0.34240	B	0.214	0.37471	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.765	0.80766	M	0.54	0.54911	T	-1.98	0.49187	N	0.504	0.54322	-0.7388	0.58514	T	0.201	0.55780	T	10	0.21718317	0.38323	T	0.023416	0.46379	T	0.151	0.39764	0.343	0.33626	0.548522844963	0.54507	0.4609851996357947	0.46016	0.569308612202	0.53113	0.719573676586	0.69984	T	0.228397	0.59394	T	-0.178889	0.23900	T	-0.198546	0.54783	T	0.212385265049683	0.21077	T	0.880812	0.71764	D	0.5672427	0.70909	0.3403526	0.59789	0.5672427	0.70910	0.3403526	0.59788	-6.234	0.48197	T	0.2649171481180749	0.35723	0.190	0.42229	B	.;.;.;.	.;.;.;.	4.013998	0.59233	24.1	0.99378077903609441	0.61759	0.96402	0.68962	D	AEFBI	0.668411	0.63620	D	0.361005220711805	0.59322	4.110774	0.483519359918913	0.66897	5.012402	0.973268149694302	0.29440	0.706548	0.73137	0	0.588015	0.36545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.06	6.06	0.98340	6.062000	0.70788	7.872000	0.72015	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.609	0.84711	907	0.22727	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1427.98	34	chr2	221482373	.	T	C	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=794;ExcessHet=0.0000;FS=1.796;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.42;ReadPosRankSum=2.47;SOR=0.483	GT:AD:DP:GQ:PL	0/1:44,55:99:99:1442,0,1146	20	0	1	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	.	.	.	.	.	.	.	.	0.05	D	0.997	D	0.879	P	0.000	D	0.884	N	2.595	M	0.7	T	-0.443	T	0.329	T	0.527	3.792	19.25	5.74	2.211	5.401	13.605	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	484.98	34	chr2	229976317	.	A	G	484.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.621e+00;DP=757;ExcessHet=0.0000;FS=5.048;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.70;ReadPosRankSum=0.977;SOR=0.746	GT:AD:DP:GQ:PL	0/1:38,25:63:99:499,0,971	20	0	1	0
chr2	232526593	232526593	C	G	exonic	CHRND	.	nonsynonymous SNV	CHRND:NM_000751:exon2:c.C117G:p.N39K	Multiple pterygium syndrome, lethal type, Autosomal recessive;Myasthenic syndrome, congenital, 3B, fast-channel, Autosomal recessive	.	0	1506	15	1	0	17	0.00561241	.	.	192261	Congenital_myasthenic_syndrome|not_provided|Lethal_multiple_pterygium_syndrome|not_specified	MONDO:MONDO:0018940,MeSH:D020294,MedGen:C0751882,OMIM:PS601462,Orphanet:590|MedGen:C3661900|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.005	B	0.012	B	0.145	N	1.000	D	2.62	M	-1.28	T	-0.377	T	0.239	T	0.186	1.695	11.63	3.84	1.197	2.392	10.096	0.399	.	0.0012	0.00698882	0.0054	0.0007	0.0192	0.0282	0	0.0018	0.0033	0.0035	0.0050064	774	154602	rs77084550	0.0035	0.0035	0.0035	0.0035	0.0371	0.0034	0.0034	0.0356	0.0349	0.0004	0.0167	0.0002	0.0371	0.0002	0.0024	0.0021	0.0035	0.0036	0.0034	0.0035	0.0031	0.0038	0.0261	0.0032	0.0031	0.0225	0.0212	0.0008	0	0.0118	0	0.0261	0	0.0034	0.0021	0.0038	0.0052	0.034	0.46513	D	0.021	0.66756	D	0.005	0.12996	B	0.012	0.16012	B	0.144507	0.18176	N	0.600408	0.997896	0.81001	D	2.225	0.63025	M	-1.28	0.79376	T	-3.95	0.74661	D	0.354	0.39659	-0.3769	0.72748	T	0.239	0.60714	T	10	0.009984076	0.00224	T	.	.	.	0.399	0.71321	0.6	0.73105	0.88740826396	0.88630	0.7436477591924203	0.74310	0.317858102707	0.34021	0.346195936203	0.17360	T	0.568302	0.85664	D	-0.337794	0.05543	T	-0.238397	0.50954	T	0.0432244219231061	0.04278	T	0.711729	0.33319	T	0.3508388	0.57132	0.4699316	0.69260	0.45212847	0.64176	0.44910714	0.67932	-9.847	0.80872	D	0.4331470553667841	0.51994	0.524	0.65652	A	.;.;.	.;.;.	2.951193	0.39270	20.9	0.99236705885937471	0.56405	0.96189	0.67943	D	AEFDBI	0.691942	0.65177	D	-0.175572978887102	0.34153	1.946022	-0.14906041906412	0.33445	1.913175	0.999999366420887	0.74766	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.73	3.84	0.43422	2.012000	0.40551	0.131000	0.15046	0.599000	0.40250	1.000000	0.71638	0.479000	0.25092	0.964000	0.52637	0.155:0.6956:0.1494:0.0	10.096	0.41651	917	0.20147	Neurotransmitter-gated ion-channel ligand-binding domain;.;Neurotransmitter-gated ion-channel 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	0.02381	715.98	36	chr2	232526593	.	C	G	715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.050e+00;DP=797;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-1.943e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/1:29,32:61:99:730,0,765	20	0	1	0
chr2	232544900	232544900	A	G	exonic	CHRNG	.	nonsynonymous SNV	CHRNG:NM_005199:exon11:c.A1378G:p.N460D,	Escobar syndrome, Autosomal recessive;Multiple pterygium syndrome, lethal type, Autosomal recessive	.	0	1511	10	1	0	12	0.00395517	0.0024	0.172	285318	Autosomal_recessive_multiple_pterygium_syndrome|not_provided|Lethal_multiple_pterygium_syndrome	MONDO:MONDO:0009926,MedGen:C0265261,OMIM:265000,Orphanet:2990|MedGen:C3661900|MONDO:MONDO:0009668,MedGen:C1854678,OMIM:253290,Orphanet:33108	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.18	T	0.571	P	0.226	B	0.877	U	0.978	N	1.07	L	-1.89	D	-0.493	T	0.468	T	0.049	2.353	13.83	4.88	1.809	3.914	14.153	0.242	0.0511886734335	0.0002	0.000399361	0.0005	0.0002	8.688e-05	0	0	0.0002	0	0.0023	0.0003687	57	154602	rs138232636	0.0003	0.0003	0.0002	0.0004	0.0022	0.0003	0.0002	0.0019	0.0018	2.987e-05	0.0002	0	0	0	0.0016	0.0002	0.0004	0.0022	0.0003	0.0003	0.0001	0.0004	0.0033	0.0002	0.0002	0.0021	0.0017	0.0001	0	0.0005	0	0	0	0	0.0001	0.0005	0.0033	0.28	0.15509	T	0.66	0.25286	T	0.005	0.12996	B	0.008	0.13708	B	0.877419	0.08780	U	0.905665	0.977844	0.25287	N	1.525	0.38595	L	-1.89	0.84557	D	-0.45	0.14782	N	0.206	0.27792	-0.4928	0.68909	T	0.468	0.79476	T	10	0.011244088	0.00247	T	0.051189	0.64555	D	0.242	0.54781	.	.	0.844340815084	0.84284	.	.	0.245959487969	0.27123	0.304541051388	0.11082	T	0.12043	0.44266	T	-0.402167	0.02241	T	-0.357246	0.38371	T	0.079155748262095	0.09877	T	0.787421	0.42899	T	0.31829092	0.54495	0.3117458	0.57179	0.27824175	0.50879	0.30706838	0.56729	-1.848	0.02656	T	.	.	0.074	0.05188	B	.;.	.;.	3.516897	0.49280	22.8	0.99295945375523942	0.58433	0.75340	0.36883	D	AEFDBCI	0.533927	0.55318	D	-0.0778507318527609	0.38364	2.245899	0.0466743801742749	0.41912	2.525969	0.99999999787588	0.74766	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	4.88	4.88	0.63131	6.360000	0.73005	5.858000	0.50403	0.751000	0.87719	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	1.0:0.0:0.0:0.0	14.153	0.64936	917	0.20147	Neurotransmitter-gated ion-channel transmembrane domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	559.98	35	chr2	232544900	.	A	G	559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.270e-01;DP=765;ExcessHet=0.0000;FS=7.119;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.33;ReadPosRankSum=0.862;SOR=0.374	GT:AD:DP:GQ:PL	0/1:35,25:60:99:574,0,902	20	0	1	0
chr2	232847516	232847519	CACA	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	43047.11	33	chr2	232847516	.	CACA	C,*	43047.11	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.081e+00;DP=2385;ExcessHet=2.1081;FS=4.230;InbreedingCoeff=-0.0572;MLEAC=17,2;MLEAF=0.405,0.048;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=0.139;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,127,0:129:99:.:.:5369,382,0,5393,385,5477	6	3	10	0
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	2757.23	33	chr2	232847517	.	A	*,AG	2757.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=-8.110e-01;DP=2381;ExcessHet=1.0911;FS=4.374;InbreedingCoeff=0.0455;MLEAC=19,1;MLEAF=0.452,0.024;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=-1.791e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,127,0:129:99:.:.:5369,382,0,5393,385,5477	6	4	10	0
chr2	233334975	233334975	C	T	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon11:c.C820T:p.P274S,	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	.	0	225	1	0	0	1	0.00221729	.	.	285382	Oguchi_disease|Retinitis_pigmentosa|not_provided	MONDO:MONDO:0019152,MedGen:C1306122,Orphanet:75382|Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.751	P	0.285	B	0.000	D	0.998	D	1.46	L	2.33	T	-1.142	T	0.038	T	0.28	1.930	12.41	4.57	2.542	1.281	10.298	0.059	0.00535895033766	8e-05	.	4.969e-05	0	0	0	0	7.493e-05	0	6.057e-05	3.88e-05	6	154602	rs369789189	4.858e-05	4.857e-05	4.084e-05	5.639e-05	0.0005	3.927e-05	3.605e-05	0.0001	7.541e-05	0	0	0	0	0	0.0005	5.307e-05	1.657e-05	9.275e-05	4.595e-05	4.593e-05	5.138e-05	4.028e-05	0.0004	2.107e-05	1.526e-05	7.301e-05	3.033e-05	0	0	0	0	0	0	0.0034	5.879e-05	0	0.0004	0.125	0.27310	T	0.128	0.34959	T	0.652	0.40767	P	0.285	0.40506	B	0.000013	0.62929	D	0.155509	0.998254	0.44686	D	1.67	0.42885	L	2.33	0.16492	T	-3.08	0.63323	D	0.284	0.32148	-1.1424	0.01271	T	0.038	0.16290	T	10	0.22296426	0.39062	T	0.005359	0.13740	T	0.059	0.16972	.	.	0.505701759113	0.50209	0.5359907500512351	0.53524	0.157102473469	0.17741	0.407085597515	0.26053	T	0.280121	0.65282	T	-0.357477	0.04274	T	-0.546717	0.17643	T	0.177998930215836	0.19108	T	.	.	.	0.11668303	0.27518	0.14675233	0.34755	0.11668303	0.27518	0.14675233	0.34754	-5.672	0.43443	T	.	.	0.122	0.25396	B	.	.	3.115689	0.42041	21.5	0.99503943184082744	0.68206	0.51403	0.28887	D	AEFBI	0.128363	0.24611	N	0.000962806001155329	0.41898	2.514535	0.010941254679469	0.40222	2.397003	0.999981373010379	0.51787	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	1.865000	0.39117	5.956000	0.51737	0.599000	0.40250	0.898000	0.31380	1.000000	0.68203	0.524000	0.29567	0.0:0.9085:0.0:0.0915	10.298	0.42816	878	0.29785	Arrestin C-terminal-like domain|Arrestin C-terminal-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	672.98	34	chr2	233334975	.	C	T	672.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.46;ReadPosRankSum=0.554;SOR=0.826	GT:AD:DP:GQ:PL	0/1:24,26:50:99:687,0,605	20	0	1	0
chr2	233682719	233682719	A	G	exonic	UGT1A7	.	nonsynonymous SNV	UGT1A7:NM_019077:exon1:c.A782G:p.Y261C,	.	.	0	225	1	0	0	1	0.00221729	.	.	2765406	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.965	D	0.838	P	.	.	1.000	N	3.56	H	-0.21	T	-0.539	T	0.424	T	0.465	0.965	8.939	-4.48	-0.432	0.846	1.921	0.084	0.0208213117217	7.7e-05	.	4.135e-05	0	0	0	0	6.024e-05	0	6.057e-05	3.23e-05	5	154602	rs149070815	5.679e-05	5.678e-05	5.31e-05	6.052e-05	0.0003	4.677e-05	4.302e-05	6.247e-05	4.758e-05	0	0	0	2.519e-05	0	0.0003	6.026e-05	4.97e-05	0.0001	4.595e-05	4.593e-05	5.138e-05	4.028e-05	0.0004	2.107e-05	1.526e-05	7.296e-05	3.031e-05	0	0	0	0	0	0	0.0034	5.879e-05	0	0.0004	0.001	0.78490	D	0.002	0.79402	D	0.965	0.56013	D	0.838	0.60045	P	.	.	.	.	0.999998	0.08975	N	2.945	0.84822	M	-0.21	0.66294	T	-6.94	0.93440	D	0.5	0.53269	-0.5387	0.67212	T	0.424	0.76790	T	9	0.6534005	0.69733	D	0.020821	0.43488	T	0.142	0.37995	.	.	0.670102749503	0.66731	0.39604303921993367	0.39519	0.517718159117	0.49631	.	.	.	0.707792	0.91641	D	-0.168942	0.25395	T	-0.282807	0.46515	T	0.741931438446045	0.42841	D	0.974802	0.91047	D	0.42633238	0.62511	0.46760744	0.69114	0.42633238	0.62511	0.46760744	0.69115	-11.472	0.82184	D	0.751926338263983	0.83399	0.690	0.72565	P	.	.	1.989503	0.25272	16.70	0.95401412193048718	0.26852	0.16689	0.19504	N	AEFI	0.186687	0.31399	N	-0.496576595025204	0.22193	1.183271	-0.84868399099656	0.13319	0.6903021	0.0715248435469765	0.15570	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.92	-4.48	0.03267	0.435000	0.21228	-0.524000	0.08673	-0.838000	0.02813	0.003000	0.16062	0.000000	0.08366	0.007000	0.07825	0.4341:0.1283:0.0788:0.3588	1.921	0.03106	475	0.77788	.	.	.	.	.	.	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	1	0	0	0	0.02381	2503.98	37	chr2	233682719	.	A	G	2503.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.063;DP=998;ExcessHet=0.0000;FS=4.531;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=0.413;SOR=0.445	GT:AD:DP:GQ:PL	0/1:78,93:171:99:2518,0,2117	20	0	1	0
chr2	237708578	237708578	G	A	exonic	LRRFIP1	.	nonsynonymous SNV	LRRFIP1:NM_001137550:exon2:c.G131A:p.R44H	.	.	427	1094	1	0	0	1	0.00045683	.	.	1858950	Myoepithelial_tumor	MONDO:MONDO:0002380,MeSH:D009208,MedGen:C0027070	no_assertion_criteria_provided	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.74	M	0.42	T	-0.192	T	0.384	T	0.87	3.799	19.29	5.64	2.657	7.403	15.201	0.412	0.115266904754	.	.	1.432e-05	0	0	0	0	2.381e-05	0	0	1.29e-05	2	154602	rs771561308	1.453e-05	1.984e-05	1.372e-05	1.536e-05	1.725e-05	9.34e-06	7.93e-06	1.103e-05	8.89e-06	0	0	0	0	0	0	1.725e-05	1.677e-05	1.191e-05	6.567e-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	0.0	0.91255	D	0.003	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000090	0.51296	D	0.126917	0.941079	0.54805	D	2.585	0.75554	M	0.42	0.56937	T	-4.1	0.76655	D	0.839	0.83473	-0.1924	0.77867	T	0.384	0.74024	T	10	0.809391	0.80240	D	0.115267	0.79439	D	0.412	0.72328	0.482	0.56302	0.844948111825	0.84346	0.31685019921040747	0.31598	0.451617425996	0.44907	0.797100484371	0.81522	T	0.217935	0.58051	T	0.288311	0.82017	D	0.176363	0.81785	D	0.989191949367523	0.79445	D	0.999644	0.99868	D	0.16911082	0.37408	0.12635317	0.30432	0.16911082	0.37407	0.12635317	0.30431	-14.545	0.94693	D	.	.	0.995	0.95479	P	.;.;.;.;.	.;.;.;.;.	5.090131	0.84994	28.5	0.99921462370926495	0.98787	0.90609	0.51927	D	AEFDBCI	0.744158	0.68723	D	0.759589168611997	0.83528	8.041038	0.668483209346814	0.79992	7.201361	0.999999999994643	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	7.978000	0.87686	11.602000	0.93483	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.0:1.0:0.0	15.201	0.72826	988	0.01987	.;.;.;.;.	.	.	.	.	.	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	0.02381	1303.98	33	chr2	237708578	.	G	A	1303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=786;ExcessHet=0.0000;FS=0.795;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-4.850e-01;SOR=0.866	GT:AD:DP:GQ:PL	0/1:42,48:90:99:1318,0,1002	20	0	1	0
chr2	238104697	238104697	A	C	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_194312:exon3:c.A527C:p.Y176S,	.	.	412	1101	9	0	0	9	0.00407056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.111	B	0.045	B	0.001	D	1.000	D	0.74	N	-0.03	T	-0.946	T	0.113	T	0.803	4.459	23.8	4.69	1.747	8.359	13.102	0.401	0.189864831079	0.0028	0.00159744	0.0032	0.0004	0.0014	0	0.0033	0.0049	0.0026	0.0012	0.0028719	444	154602	rs111369122	0.0033	0.0033	0.0033	0.0032	0.0038	0.0032	0.0032	0.0037	0.0036	0.0005	0.0013	7.704e-05	0	0.0044	0.0016	0.0038	0.0028	0.0013	0.0024	0.0024	0.0025	0.0023	0.0037	0.0022	0.0021	0.0033	0.0032	0.0008	0.0175	0.0016	0	0	0.0029	0.0034	0.0037	0.0019	0.0006	0.033	0.46910	D	0.007	0.69154	D	0.111	0.26235	B	0.045	0.24526	B	0.000761	0.42006	D	0.098369	0.999228	0.46379	D	0.99	0.25021	L	-0.03	0.63077	T	-7.29	0.94457	D	0.786	0.78262	-0.9457	0.41698	T	0.113	0.40399	T	10	0.017033726	0.00361	T	0.189865	0.86089	D	0.401	0.71479	.	.	0.360163838653	0.35632	0.7471954668618922	0.74665	0.562505004797	0.52722	0.755816459656	0.75308	T	0.035369	0.23691	T	-0.182558	0.23355	T	-0.0346043	0.68062	D	0.0412624943340114	0.03920	T	0.944805	0.82790	D	0.73347294	0.79920	0.81662285	0.89323	0.73347294	0.79922	0.81662285	0.89323	-13.802	0.93114	D	.	.	0.845	0.80167	P	.;.	.;.	4.509423	0.70607	25.5	0.9905279305993393	0.51298	0.98424	0.82634	D	AEFDBI	0.879265	0.80510	D	-0.0215084827720469	0.40883	2.435636	0.150628949575639	0.47176	2.951703	0.999999998890278	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.69	4.69	0.58546	6.805000	0.74979	10.667000	0.83547	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	1.0:0.0:0.0:0.0	13.102	0.58639	970	0.06235	Ankyrin repeat-containing domain|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	0	0	0	0	0	0	0	0	0	0	0	0.02381	365.98	35	chr2	238104697	.	A	C	365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=750;ExcessHet=0.0000;FS=4.777;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.32;ReadPosRankSum=-6.440e-01;SOR=1.591	GT:AD:DP:GQ:PL	0/1:29,15:44:99:380,0,777	20	0	1	0
chr2	240757426	240757426	-	TCC	exonic	KIF1A	.	nonframeshift insertion	KIF1A:NM_001379632:exon26:c.2699_2700insGGA:p.E900_D901insE	Mental retardation, autosomal dominant 9, Autosomal dominant;Neuropathy, hereditary sensory, type IIC, Autosomal recessive;Spastic paraplegia 30, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878988727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	45978.09	90	chr2	240757423	.	ATCC	A,ATCCTCC	45978.09	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=-5.170e-01;DP=2530;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=29.32;ReadPosRankSum=0.110;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,106,0:106:99:.:.:4610,320,0,4610,320,4610	5	7	8	0
chr2	241317537	241317537	T	-	exonic	SEPTIN2	.	frameshift deletion	SEPTIN2:NM_001349287:exon3:c.112delT:p.C43Vfs*23,	.	.	3	4	19	0	200	219	0.703704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	9867.71	78	chr2	241317535	.	ATT	A,AT	9867.71	.	AC=2,20;AF=0.048,0.476;AN=42;BaseQRankSum=0.729;DP=1727;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=1,20;MLEAF=0.024,0.476;MQ=60.00;MQRankSum=0.00;QD=7.46;ReadPosRankSum=0.074;SOR=0.692	GT:AD:DP:GQ:PL	0/2:37,7,16:72:99:242,238,1530,0,844,778	0	0	1	0
chr3	8548884	8548884	C	T	exonic	LMCD1	.	nonsynonymous SNV	LMCD1:NM_001278233:exon3:c.C485T:p.P162L	.	.	416	1104	2	0	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.002	B	0.002	B	0.041	N	0.987	D	0.55	N	0.83	T	-0.828	T	0.239	T	0.137	0.949	8.868	3.86	0.748	0.588	9.191	0.042	0.0203224201898	0.0002	.	9.846e-05	0	0	0	0	0.0002	0	0	7.12e-05	11	154602	rs371191776	0.0001	0.0001	0.0001	0.0001	0.0015	9.3e-05	8.756e-05	0.0007	0.0005	0	0.0003	0	0	0	0.0015	0.0001	0.0001	4.16e-05	0.0001	0.0001	0.0001	0.0001	0.0010	8.167e-05	6.724e-05	0.0006	0.0005	0	0	0.0010	0	0	0	0	4.409e-05	0.0005	0	0.065	0.43393	T	0.114	0.36765	T	0.002	0.09854	B	0.001	0.06944	B	0.040768	0.24022	N	0.398398	0.979058	0.40565	D	0.205	0.09354	N	0.82	0.48460	T	-1.2	0.30555	N	0.16	0.23758	-0.8276	0.53454	T	0.239	0.60655	T	10	0.053646237	0.05588	T	0.020322	0.42890	T	0.042	0.11227	.	.	0.746043463837	0.74375	0.4226704773506006	0.42184	0.307934261036	0.33093	0.37691834569	0.21819	T	0.026	0.19543	T	-0.325651	0.06446	T	-0.407992	0.32457	T	0.0323003269731998	0.02355	T	0.758124	0.47762	T	0.108259045	0.25598	0.063764624	0.12678	0.108259045	0.25598	0.063764624	0.12677	-4.14	0.25877	T	.	.	0.075	0.09772	B	.;.;.;.	.;.;.;.	2.007807	0.25509	16.79	0.97597979335801144	0.34831	0.41272	0.26620	N	AEFBI	0.117038	0.22945	N	-0.687848244857821	0.16367	0.8332358	-0.61220157097311	0.19180	1.027894	0.999316940162114	0.39113	0.693126	0.56070	0	0.588015	0.36545	0	0.659464	0.59346	0	0.635551	0.53088	0	.	.	5.64	3.86	0.43689	0.753000	0.26042	1.305000	0.25500	0.599000	0.40250	0.088000	0.22533	0.725000	0.26378	0.147000	0.20199	0.0:0.8331:0.0:0.1669	9.191	0.36359	907	0.22727	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1201.98	40	chr3	8548884	.	C	T	1201.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=826;ExcessHet=0.0000;FS=2.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=1.34;SOR=1.040	GT:AD:DP:GQ:PL	0/1:52,46:98:99:1216,0,1310	20	0	1	0
chr3	17012010	17012010	G	C	exonic	PLCL2	.	nonsynonymous SNV	PLCL2:NM_001144382:exon2:c.G2664C:p.K888N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.996	D	0.937	D	0.000	D	1.000	D	.	.	2.15	T	-0.707	T	0.244	T	0.464	3.567	18.18	-3.64	-0.689	0.216	13.334	0.229	0.0599855589006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.006	0.70582	D	0.996	0.68779	D	0.937	0.67262	D	0.000000	0.84330	D	0.000000	0.999987	0.54805	D	.	.	.	2.15	0.19311	T	-3.15	0.64132	D	0.583	0.60410	-0.7065	0.60125	T	0.244	0.61213	T	9	0.39067656	0.54868	T	0.059986	0.67849	D	0.229	0.52916	0.355	0.35571	0.158540857583	0.15491	0.4834255960509961	0.48262	.	.	0.84985768795	0.89593	D	0.482597	0.81068	T	-0.135288	0.30645	T	-0.432109	0.29695	T	0.992417335510254	0.82888	D	.	.	.	0.2649213	0.49560	0.23940687	0.49289	0.2649213	0.49559	0.23940687	0.49288	-12.882	0.90082	D	.	.	0.993	0.94612	P	.;.	.;.	2.358454	0.30245	18.38	0.99700097203492455	0.80591	0.86674	0.46005	D	AEFBI	.	.	.	-0.399027686780271	0.25503	1.384929	-0.419279721094201	0.24431	1.337812	0.878673953497551	0.25571	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.553451	0.17756	0	.	.	5.74	-3.64	0.04225	0.229000	0.17614	-0.152000	0.11409	-0.169000	0.11342	0.993000	0.37899	0.011000	0.20116	0.503000	0.29084	0.7444:0.0:0.2556:0.0	13.334	0.59947	643	0.63827	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	120.15	128	chr3	17012010	.	G	C	120.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.149e+00;DP=1250;ExcessHet=0.0000;FS=139.883;InbreedingCoeff=-0.0328;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=1.95;SOR=7.701	GT:AD:DP:GQ:PL	0/1:124,46:170:99:134,0,2755	20	0	1	0
chr3	17166849	17166849	G	T	exonic	TBC1D5	.	nonsynonymous SNV	TBC1D5:NM_001349091:exon19:c.C1604A:p.A535E	.	.	433	1078	9	2	0	13	0.00599355	.	.	3190640	TBC1D5-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.92	T	0.002	B	0.003	B	0.000	D	1.000	D	0.345	N	1.6	T	-1.088	T	0.040	T	0.128	3.178	16.63	5.09	2.521	5.996	14.577	0.039	0.00525009549559	0.0008	0.00159744	0.0010	9.61e-05	0.0004	0	0	0.0010	0	0.0033	0.0010737	166	154602	rs139210370	0.0010	0.0010	0.0009	0.0011	0.0033	0.0010	0.0009	0.0030	0.0028	0.0001	0.0006	0	0	1.872e-05	0.0033	0.0010	0.0010	0.0033	0.0008	0.0008	0.0008	0.0009	0.0050	0.0007	0.0007	0.0034	0.0029	0.0002	0	0.0007	0	0	0	0	0.0012	0.0009	0.0050	0.179	0.25873	T	0.367	0.17320	T	0.001	0.07471	B	0.003	0.08700	B	0.000480	0.44119	D	0.230694	0.998977	0.45795	D	1.245	0.31408	L	1.6	0.28604	T	-0.88	0.28084	N	0.115	0.16308	-1.0876	0.05943	T	0.040	0.17404	T	10	0.008088201	0.00183	T	0.00525	0.13402	T	0.039	0.10176	.	.	0.314716216878	0.31082	0.3957879721196043	0.39493	0.168082627083	0.18954	0.36914151907	0.20709	T	0.007995	0.07364	T	-0.540471	0.00333	T	-0.553429	0.16999	T	0.0203395259281482	0.00734	T	0.852615	0.54988	D	0.1687574	0.37352	0.26614425	0.52456	0.1687574	0.37352	0.26614425	0.52455	-2.836	0.08520	T	.	.	0.174	0.41418	B	.;.;.	.;.;.	3.127693	0.42255	21.5	0.98015989244652835	0.37597	0.92020	0.54768	D	AEFDBCI	0.671094	0.63795	D	-0.298044412696176	0.29224	1.61874	-0.0833851304870343	0.36076	2.094948	0.999963353442484	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.09	5.09	0.68647	6.077000	0.70910	11.687000	0.94301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.701000	0.34172	0.0:0.0:0.8534:0.1466	14.577	0.67846	928	0.17405	.;.;.	.	.	.	.	.	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	0.02381	1545.98	38	chr3	17166849	.	G	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.236;DP=927;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.73;ReadPosRankSum=6.000e-03;SOR=0.678	GT:AD:DP:GQ:PL	0/1:107,70:177:99:1560,0,2563	20	0	1	0
chr3	17404955	17404955	G	A	exonic	TBC1D5	.	nonsynonymous SNV	TBC1D5:NM_001349073:exon5:c.C283T:p.L95F	.	.	565	950	6	1	0	8	0.00419287	.	.	2827199	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.01	M	2.1	T	-0.788	T	0.127	T	0.921	3.952	20.2	5.12	2.552	4.706	13.272	0.456	0.0890458843197	0.0032	0.00219649	0.0033	0.0009	0.0063	0	0.0004	0.0045	0.0069	0.0006	0.0028654	443	154602	rs34457748	0.0039	0.0040	0.0039	0.0039	0.0181	0.0038	0.0038	0.0151	0.0140	0.0010	0.0063	0.0019	0	0.0004	0.0181	0.0044	0.0041	0.0006	0.0037	0.0037	0.0036	0.0039	0.0096	0.0035	0.0034	0.0084	0.0079	0.0007	0.0406	0.0096	0.0012	0	0.0004	0.0204	0.0047	0.0090	0.0006	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	3.125	0.87999	M	2.1	0.19990	T	-3.68	0.74051	D	0.869	0.86618	-0.7884	0.55822	T	0.127	0.43442	T	10	0.0101546645	0.00227	T	0.089046	0.75252	D	0.456	0.75483	.	.	0.416202232284	0.41236	0.739143666950506	0.73859	0.65836449738	0.58744	0.646874547005	0.59542	T	0.289626	0.80739	T	-0.0692349	0.41451	T	0.131498	0.78991	D	0.0558242409740243	0.06495	T	0.970703	0.94177	D	0.797171	0.83725	0.7660149	0.86179	0.797171	0.83727	0.7660149	0.86180	-9.881	0.73486	D	.	.	0.632	0.87028	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.572626	0.92235	32	0.99907428599340908	0.97801	0.85777	0.44948	D	AEFCI	0.728614	0.67658	D	0.794142429634126	0.85737	8.666546	0.729551206407621	0.84622	8.343671	0.739177648033154	0.23183	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.12	5.12	0.69459	5.552000	0.66986	9.982000	0.82930	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0769:0.0:0.9231:0.0	13.272	0.59596	533	0.73433	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC domain;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	348.98	33	chr3	17404955	.	G	A	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.044e+00;DP=672;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=-1.425e+00;SOR=0.473	GT:AD:DP:GQ:PL	0/1:14,14:28:99:363,0,401	20	0	1	0
chr3	23919344	23919344	A	G	exonic	RPL15	.	nonsynonymous SNV	RPL15:NM_001253380:exon3:c.A458G:p.K153R	.	YES	435	1080	6	1	0	8	0.00369004	.	.	1386712	not_provided|Diamond-Blackfan_anemia_12	MedGen:C3661900|MONDO:MONDO:0014245,MedGen:C3809888,OMIM:615550,Orphanet:124	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.09	T	0.0	B	0.01	B	0.000	U	1.000	D	1.02	L	.	.	-0.952	T	0.143	T	0.635	2.800	15.33	5.78	2.212	4.332	11.866	0.139	.	8e-05	0.00199681	0.0002	0.0001	0	0	0	0.0001	0.0012	0.0008	0.0003842	10	26028	rs370700905	9.859e-05	9.85e-05	8.648e-05	0.0001	0.0015	8.51e-05	7.983e-05	0.0008	0.0008	2.989e-05	4.472e-05	0	0	0	0.0015	3.328e-05	0.0001	0.0010	0.0001	0.0001	0.0001	0.0002	0.0025	9.142e-05	7.699e-05	0.0014	0.0011	0	0	0.0001	0	0	0	0	0.0001	0	0.0025	0.113	0.28772	T	0.198	0.27767	T	0.0	0.02946	B	0.01	0.14941	B	0.000001	0.84330	U	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	-1.3	0.36189	N	0.105	0.20129	-0.9517	0.40678	T	0.143	0.46422	T	9	0.013277203	0.00282	T	.	.	.	0.139	0.37390	.	.	0.705982711757	0.70342	0.4633412032959153	0.46253	1.28606242572	0.82666	0.723759055138	0.70595	T	0.144562	0.48124	T	-0.153842	0.27712	T	-0.116029	0.62127	T	0.0492620211402408	0.05370	T	0.877512	0.59164	D	0.15134814	0.34411	0.15274343	0.35924	0.16758646	0.37164	0.17138503	0.39317	-4.254	0.27527	T	0.3662132910263056	0.46219	0.077	0.12985	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.033164	0.40636	21.2	0.99731426161504688	0.82833	0.91925	0.54561	D	AEFDBHCI	0.902188	0.84977	D	-0.0224637617873429	0.40841	2.432322	0.176885967234947	0.48583	3.072311	0.99999999701248	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.698795	0.65105	0	0.638787	0.57140	0	.	.	5.78	5.78	0.91418	4.326000	0.59028	4.449000	0.43415	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.993000	0.69303	0.8693:0.0:0.0:0.1307	11.866	0.51770	583	0.69484	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	323.98	27	chr3	23919344	.	A	G	323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.065e+00;DP=605;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.39;MQRankSum=-1.180e+00;QD=7.90;ReadPosRankSum=-7.360e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:25,16:41:99:338,0,654	20	0	1	0
chr3	25729293	25729293	C	G	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon10:c.G1397C:p.C466S	Congenital disorder of deglycosylation, Autosomal recessive	YES	457	1062	2	1	0	4	0.0018797	.	.	698016	Inborn_genetic_diseases|Congenital_disorder_of_deglycosylation|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0031376,MedGen:C3808991,OMIM:PS615273|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	D	-2.255	N	1.68	T	-0.923	T	0.014	T	0.073	-0.118	3.423	4.01	0.778	5.142	16.488	0.110	.	.	0.00239617	0.0012	0	9.311e-05	0	0	1.66e-05	0	0.0092	0.000925	143	154602	rs544148699	0.0004	0.0004	0.0002	0.0005	0.0073	0.0003	0.0003	0.0067	0.0065	3.519e-05	0	0	0	0	0.0002	3.909e-06	0.0005	0.0073	0.0003	0.0003	6.434e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	2.409e-05	0	0	0	0	0	0	1.471e-05	0	0.0089	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000318	0.45977	N	0.258363	1	0.81001	D	-2.625	0.00040	N	1.68	0.27184	T	3.01	0.00194	N	0.099	0.10340	-0.9226	0.45196	T	0.014	0.05513	T	10	0.003987968	0.00077	T	.	.	.	0.110	0.31079	0.348	0.34436	0.176091768786	0.17195	0.36148572991701877	0.36062	0.0409017552141	0.04391	0.327602118254	0.14573	T	0.055066	0.29901	T	-0.613049	0.00121	T	-0.648813	0.09037	T	0.028942596615783	0.01828	T	0.532447	0.17709	T	0.05568484	0.10857	0.09527911	0.22589	0.04454942	0.07139	0.13820341	0.33011	-0.255	0.00453	T	0.021100557286842715	0.00008	0.054	0.00354	B	.;.;.;.;.	.;.;.;.;.	1.892893	0.24040	16.25	0.47006326778865609	0.03810	0.15211	0.18799	N	AEFBI	0.045898	0.07560	N	-0.849770547720229	0.12055	0.5853409	-0.511145068539721	0.21850	1.183995	0.999999044205979	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.82	4.01	0.45821	5.274000	0.65380	5.152000	0.47759	-0.121000	0.13915	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.2497:0.7503:0.0	16.488	0.84036	783	0.47268	.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1551.98	34	chr3	25729293	.	C	G	1551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.892e+00;DP=782;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.51;ReadPosRankSum=1.87;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,44:94:99:0|1:25729293_C_G:1566,0,1719:25729293	20	0	1	0
chr3	25729308	25729308	G	A	exonic	NGLY1	.	nonsynonymous SNV	NGLY1:NM_001145293:exon10:c.C1382T:p.T461I	Congenital disorder of deglycosylation, Autosomal recessive	YES	492	1026	2	2	0	6	0.00291545	.	.	698017	Inborn_genetic_diseases|Congenital_disorder_of_deglycosylation|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0031376,MedGen:C3808991,OMIM:PS615273|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.004	B	0.844	N	1.000	N	-0.345	N	1.59	T	-0.991	T	0.027	T	0.136	-0.079	3.614	-0.623	-0.117	0.142	3.819	0.080	.	.	0.00239617	0.0012	0	0.0001	0	0	1.845e-05	0	0.0099	0.0006916	18	26028	rs564037973	0.0003	0.0004	0.0002	0.0004	0.0076	0.0003	0.0003	0.0069	0.0067	3.864e-05	0	0	0	0	0.0002	4.043e-06	0.0005	0.0076	0.0003	0.0003	6.437e-05	0.0005	0.0089	0.0002	0.0002	0.0068	0.0061	2.412e-05	0	0	0	0	0	0	1.472e-05	0	0.0089	0.33	0.13971	T	0.433	0.13595	T	0.001	0.07471	B	0.002	0.10090	B	0.844252	0.09011	N	0.942866	1	0.08975	N	0.705	0.18577	N	1.59	0.28836	T	-0.69	0.26200	N	0.164	0.17278	-0.9908	0.32398	T	0.027	0.11529	T	10	0.0030286908	0.00050	T	.	.	.	0.080	0.23350	0.595	0.72494	0.158396225186	0.15383	0.4291067421249582	0.42827	0.0377771353946	0.04010	0.357819229364	0.19067	T	0.059294	0.31076	T	-0.608345	0.00130	T	-0.642057	0.09520	T	0.00630600466582451	0.00070	T	0.741726	0.36078	T	0.017878447	0.00312	0.023690661	0.00382	0.019630216	0.00497	0.028196817	0.01033	-3.763	0.23563	T	0.14163011860036773	0.15948	0.083	0.09868	B	.;.;.;.;.	.;.;.;.;.	1.105629	0.14901	11.43	0.75644256329152415	0.11155	0.02817	0.07550	N	AEFBI	0.055207	0.10103	N	-1.07318041862596	0.07141	0.3308332	-1.01347629559088	0.09488	0.4723471	0.98303858940737	0.30494	0.706548	0.73137	0	0.724815	0.89359	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.82	-0.623	0.10976	0.097000	0.15007	1.444000	0.26551	0.676000	0.76740	0.001000	0.13787	0.870000	0.27582	0.848000	0.40082	0.4403:0.0:0.2844:0.2752	3.819	0.08343	783	0.47268	.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.;Peptide N glycanase, PAW domain|Peptide N glycanase, PAW domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1401.98	34	chr3	25729308	.	G	A	1401.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.262e+00;DP=764;ExcessHet=0.0000;FS=2.052;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.45;ReadPosRankSum=1.54;SOR=0.436	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,37:76:99:0|1:25729293_C_G:1416,0,1445:25729293	20	0	1	0
chr3	25791687	25791687	A	T	exonic	OXSM	.	nonsynonymous SNV	OXSM:NM_001145391:exon2:c.A667T:p.I223L	.	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.863	P	0.81	P	0.000	D	1.000	D	2.295	M	.	.	-0.495	T	0.345	T	0.47	4.000	20.5	3.81	0.564	4.364	9.653	0.143	.	.	0.00279553	0.0012	0	0.0003	0.0003	0	1.498e-05	0	0.0084	0.0010931	169	154602	rs372030404	0.0006	0.0006	0.0003	0.0008	0.0084	0.0005	0.0005	0.0079	0.0077	2.987e-05	2.236e-05	0	0.0002	0	0.0002	5.396e-06	0.0012	0.0084	0.0004	0.0004	0.0002	0.0006	0.0108	0.0004	0.0003	0.0084	0.0076	2.404e-05	0	0.0007	0	0.0004	0	0	1.47e-05	0	0.0108	0.001	0.78490	D	0.026	0.67890	D	0.863	0.47474	P	0.81	0.58608	P	0.000000	0.84330	D	0.042070	1	0.81001	D	1.845	0.48678	L	.	.	.	-1.96	0.46146	N	0.497	0.54932	-0.4952	0.68822	T	0.345	0.71044	T	8	0.00834164	0.00189	T	.	.	.	0.143	0.38195	0.625	0.76028	0.336892272479	0.33291	0.9572568435362331	0.95710	0.336386006611	0.35634	0.379401683807	0.22172	T	0.298843	0.67139	T	-0.305051	0.08192	T	-0.204847	0.54187	T	0.108807511612149	0.13300	T	0.976902	0.91973	D	0.9317093	0.94408	0.7657584	0.86164	0.9317093	0.94409	0.7657584	0.86165	-5.8	0.44574	T	.	.	0.359	0.61607	A	.;.;.	.;.;.	3.351541	0.46229	22.3	0.98729626479076837	0.45333	0.89921	0.50708	D	AEBCI	0.606922	0.59708	D	-0.00375722051942801	0.41684	2.497815	0.0534405433855003	0.42239	2.551363	0.999982637627294	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	6.16	3.81	0.43020	4.358000	0.59217	5.410000	0.48535	-0.070000	0.16343	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8059:0.0:0.1941:0.0	9.653	0.39070	590	0.68897	Beta-ketoacyl synthase, N-terminal|Polyketide synthase, beta-ketoacyl synthase domain;.;Beta-ketoacyl synthase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1566.98	34	chr3	25791687	.	A	T	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.97;DP=812;ExcessHet=0.0000;FS=0.659;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-6.000e-02;SOR=0.617	GT:AD:DP:GQ:PL	0/1:70,58:128:99:1581,0,1823	20	0	1	0
chr3	37048583	37048583	A	G	exonic	MLH1	.	nonsynonymous SNV	MLH1:NM_001354625:exon14:c.A889G:p.I297V	Colorectal cancer, hereditary nonpolyposis, type 2;Mismatch repair cancer syndrome, Autosomal recessive;Muir-Torre syndrome, Autosomal dominant	YES	0	1521	1	0	0	1	0.000328623	.	.	50076	Mismatch_repair_cancer_syndrome_1|Muir-Torré_syndrome|Colorectal_cancer,_hereditary_nonpolyposis,_type_2|Lynch_syndrome|Hereditary_cancer-predisposing_syndrome|not_provided|Endometrial_carcinoma|Hereditary_nonpolyposis_colorectal_neoplasms|not_specified	MONDO:MONDO:0010159,MedGen:C5399763,OMIM:276300,Orphanet:252202|MONDO:MONDO:0008018,MedGen:C1321489,OMIM:158320,Orphanet:587|MONDO:MONDO:0012249,MedGen:C1333991,OMIM:609310,Orphanet:144|MONDO:MONDO:0005835,MedGen:C4552100,Orphanet:144|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:C3661900|Human_Phenotype_Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089|MeSH:D003123,MedGen:C0009405|MedGen:CN169374	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.77	T	0.007	B	0.016	B	0.000	D	0.999	N	0.41	N	-2.5	D	-0.861	T	0.265	T	0.517	2.111	13.02	0.59	-0.109	1.902	2.206	0.354	0.0207054543117	0.0032	0.00259585	0.0010	0.0083	0.0007	0	0	0.0005	0	0	0.0009896	153	154602	rs55907433	0.0005	0.0005	0.0006	0.0005	0.0097	0.0005	0.0005	0.0088	0.0085	0.0097	0.0007	0.0075	0	0	0.0026	7.376e-05	0.0015	5.797e-05	0.0028	0.0028	0.0029	0.0027	0.0086	0.0026	0.0025	0.0079	0.0076	0.0086	0	0.0010	0.0112	0	0	0.0034	0.0002	0.0019	0	0.74	0.48642	T	0.456	0.12740	T	0.0	0.02946	B	0.003	0.08700	B	0.000006	0.62929	D	0.169045	0.999767	0.22064	N	0.405	0.12330	N	-2.5	0.89219	D	-0.17	0.11366	N	0.821	0.81658	-0.8605	0.51227	T	0.265	0.63663	T	10	0.013260722	0.00282	T	0.020705	0.43358	T	0.354	0.67510	.	.	0.901459932798	0.90048	0.273864424661466	0.27299	0.0575164109144	0.06368	0.321152627468	0.13597	T	0.504615	0.82362	D	-0.262912	0.12561	T	-0.143467	0.59815	T	0.00240062695342619	0.00025	T	0.813119	0.46553	T	0.04714217	0.08008	0.04516058	0.06014	0.069246896	0.15154	0.030109012	0.01426	-3.305	0.25098	T	0.13712361065274772	0.15058	0.064	0.01645	B	.;.;.;.;.;.	.;.;.;.;.;.	1.662612	0.21203	15.10	0.96158690488055443	0.28890	0.78569	0.38783	D	AEFBCI	0.229315	0.35285	N	-0.800236246641248	0.13305	0.6544608	-0.630302471600393	0.18716	1.001059	0.706628753818308	0.22767	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.81	0.59	0.16642	1.917000	0.39626	0.879000	0.22379	-0.050000	0.17177	0.886000	0.31111	0.013000	0.20296	0.994000	0.71098	0.5115:0.2436:0.1279:0.1169	2.206	0.03695	154	0.93967	DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, C-terminal;DNA mismatch repair protein Mlh1, 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	1	0	0	1	0	1	0	0.02381	2832.98	33	chr3	37048583	.	A	G	2832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.65;DP=908;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.11;SOR=0.713	GT:AD:DP:GQ:PL	0/1:108,99:207:99:2847,0,2864	20	0	1	0
chr3	38059757	38059757	G	A	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon3:c.G578A:p.R193K	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	.	9	1511	2	0	0	2	0.000661376	.	.	2827252	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.35	T	0.669	P	0.175	B	0.000	D	0.798	N	1.78	L	3.66	T	-1.064	T	0.013	T	0.55	3.148	16.53	4.09	1.261	3.298	11.016	0.087	.	0.0020	0.00279553	0.0008	0.0077	0.0014	0	0	0.0001	0.0011	0	0.0008538	132	154602	rs76603930	0.0003	0.0003	0.0004	0.0003	0.0083	0.0003	0.0003	0.0075	0.0072	0.0083	0.0010	7.653e-05	0	0	0.0023	9.083e-05	0.0008	1.159e-05	0.0020	0.0020	0.0020	0.0021	0.0067	0.0018	0.0018	0.0060	0.0058	0.0067	0	0.0010	0	0	0	0.0068	0.0001	0.0028	0	0.35	0.15717	T	0.022	0.57587	D	0.669	0.41149	P	0.122	0.35598	B	0.000485	0.43931	D	0.231910	0.797701	0.29152	N	2.365	0.68172	M	3.42	0.05507	T	-0.75	0.21644	N	0.519	0.54932	-1.0637	0.10855	T	0.013	0.04938	T	10	0.010219753	0.00228	T	.	.	.	0.087	0.25287	.	.	0.33085137897	0.32697	0.28653073296909315	0.28566	0.185099618086	0.20806	0.487592130899	0.37105	T	0.016035	0.13332	T	-0.460134	0.00981	T	-0.428319	0.30126	T	0.0215376068302143	0.00857	T	0.663534	0.27241	T	0.12221539	0.28724	0.1418799	0.33771	0.12221539	0.28724	0.1418799	0.33771	-3.372	0.14682	T	.	.	0.225	0.45617	B	.;.	.;.	3.245931	0.44328	21.9	0.98782519170558658	0.46159	0.80325	0.39993	D	AEFDI	0.497632	0.53207	N	0.0622528030188615	0.44709	2.739968	0.114043128224167	0.45265	2.792834	0.67018511718385	0.22366	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.99	4.09	0.47038	3.506000	0.53121	7.133000	0.57630	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.1879:0.8121:0.0	11.016	0.46905	620	0.66037	.;.	.	.	.	.	.	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	0.02381	1744.98	38	chr3	38059757	.	G	A	1744.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.004e+00;DP=857;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=-1.123e+00;SOR=0.513	GT:AD:DP:GQ:PL	0/1:70,69:139:99:1759,0,1899	20	0	1	0
chr3	38274346	38274350	CACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.453_457del:p.T152Hfs*36,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	707.36	39	chr3	38274345	.	GCACCC	G,GC	707.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-2.454e+00;DP=1432;ExcessHet=0.3300;FS=115.223;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.80;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:210,0,32:242:99:0|1:38274345_GCACC_G:209,839,9018,0,8178,8085:38274345	18	0	1	0
chr3	38274347	38274350	ACCC	-	exonic	SLC22A13	.	frameshift deletion	SLC22A13:NM_004256:exon2:c.454_457del:p.T152Sfs*61,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	707.36	39	chr3	38274345	.	GCACCC	G,GC	707.36	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-2.454e+00;DP=1432;ExcessHet=0.3300;FS=115.223;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.95;ReadPosRankSum=2.80;SOR=9.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:210,0,32:242:99:0|1:38274345_GCACC_G:209,839,9018,0,8178,8085:38274345	18	0	1	0
chr3	38274349	38274349	C	0	exonic	SLC22A13	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	524.24	39	chr3	38274349	.	C	*,CTGGG	524.24	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-8.390e-01;DP=1626;ExcessHet=0.3300;FS=132.304;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=2.74;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:210,0,32:242:99:0|1:38274345_GCACC_G:209,839,9018,0,8178,8085:38274345	18	0	1	0
chr3	38274349	38274349	-	TGGG	exonic	SLC22A13	.	frameshift insertion	SLC22A13:NM_004256:exon2:c.456_457insTGGG:p.L153Wfs*38,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	524.24	39	chr3	38274349	.	C	*,CTGGG	524.24	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=-8.390e-01;DP=1626;ExcessHet=0.3300;FS=132.304;InbreedingCoeff=-0.0769;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=2.74;SOR=10.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:210,0,32:242:99:0|1:38274345_GCACC_G:209,839,9018,0,8178,8085:38274345	18	0	1	0
chr3	40462038	40462038	-	CTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTG:p.A159_K160insAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/5:0,37,0,0,0,27,0:64:99:2604,1107,998,2638,1135,2822,2638,1135,2822,2822,2638,1135,2822,2822,2822,1504,0,1719,1719,1719,1819,2638,1135,2822,2822,2822,1719,2822	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTG:p.A159_K160insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/5:0,37,0,0,0,27,0:64:99:2604,1107,998,2638,1135,2822,2638,1135,2822,2822,2638,1135,2822,2822,2822,1504,0,1719,1719,1719,1819,2638,1135,2822,2822,2822,1719,2822	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTG:p.A159_K160insAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/5:0,37,0,0,0,27,0:64:99:2604,1107,998,2638,1135,2822,2638,1135,2822,2822,2638,1135,2822,2822,2822,1504,0,1719,1719,1719,1819,2638,1135,2822,2822,2822,1719,2822	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTG:p.A159_K160insAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/5:0,37,0,0,0,27,0:64:99:2604,1107,998,2638,1135,2822,2638,1135,2822,2822,2638,1135,2822,2822,2822,1504,0,1719,1719,1719,1819,2638,1135,2822,2822,2822,1719,2822	1	2	2	0
chr3	40462038	40462038	-	CTGCTGCTGCTGCTGCTG	exonic	RPL14	.	nonframeshift insertion	RPL14:NM_001034996:exon6:c.454_455insCTGCTGCTGCTGCTGCTG:p.A159_K160insAAAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	48025.3	76	chr3	40462029	.	ACTGCTGCTG	ACTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTG,ACTGCTGCTGCTGCTGCTGCTGCTG,A,ACTGCTGCTGCTGCTGCTGCTGCTGCTG	48025.3	.	AC=12,3,11,8,1,1;AF=0.286,0.071,0.262,0.190,0.024,0.024;AN=42;BaseQRankSum=0.629;DP=1847;ExcessHet=0.1217;FS=0.843;InbreedingCoeff=0.2222;MLEAC=12,3,11,8,1,1;MLEAF=0.286,0.071,0.262,0.190,0.024,0.024;MQ=58.28;MQRankSum=-6.800e-01;QD=28.71;ReadPosRankSum=-7.900e-01;SOR=0.624	GT:AD:DP:GQ:PL	1/5:0,37,0,0,0,27,0:64:99:2604,1107,998,2638,1135,2822,2638,1135,2822,2822,2638,1135,2822,2822,2822,1504,0,1719,1719,1719,1819,2638,1135,2822,2822,2822,1719,2822	1	2	2	0
chr3	42210088	42210088	-	GGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGA:p.E624_G625insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	4/4:0,0,0,0,78:78:99:3374,3375,3377,3375,3377,3377,3375,3377,3377,3377,233,234,234,234,0	1	3	1	0
chr3	42210088	42210088	-	GGAGGAGGAGGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGAGGAGGAGGA:p.E624_G625insEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	4/4:0,0,0,0,78:78:99:3374,3375,3377,3375,3377,3377,3375,3377,3377,3377,233,234,234,234,0	1	3	1	0
chr3	42210088	42210088	-	GGA	exonic	TRAK1	.	nonframeshift insertion	TRAK1:NM_001265609:exon13:c.1844_1845insGGA:p.E624_G625insE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	50111.8	90	chr3	42210085	.	CGGA	C,CGGAGGAGGA,CGGAGGAGGAGGAGGA,CGGAGGA	50111.8	.	AC=11,13,1,8;AF=0.262,0.310,0.024,0.190;AN=42;BaseQRankSum=-3.670e-01;DP=2201;ExcessHet=0.9430;FS=2.344;InbreedingCoeff=0.0101;MLEAC=11,13,1,8;MLEAF=0.262,0.310,0.024,0.190;MQ=60.00;MQRankSum=0.00;QD=33.50;ReadPosRankSum=-1.900e-01;SOR=0.492	GT:AD:DP:GQ:PL	4/4:0,0,0,0,78:78:99:3374,3375,3377,3375,3377,3377,3375,3377,3377,3377,233,234,234,234,0	1	3	1	0
chr3	44244331	44244331	A	T	exonic	TOPAZ1	.	nonsynonymous SNV	TOPAZ1:NM_001145030:exon2:c.A1825T:p.I609F,	.	.	.	.	.	.	.	.	.	.	.	2331405	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.144	B	0.071	B	0.016	N	0.999	N	0.345	N	2.58	T	-1.008	T	0.018	T	0.205	0.623	7.350	-1.31	-0.117	-0.102	7.139	0.067	0.0131499964077	.	0.000199681	9.334e-05	0.0005	0	0	0	0.0001	0	0	2.59e-05	4	154602	rs528472282	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0.0002	0	0	0	0.0004	0.0002	0.0002	0	0.0004	0.0004	0.0004	0.0003	0.0009	0.0003	0.0003	0.0006	0.0006	0.0009	0	0.0006	0	0	0	0	0.0002	0.0014	0	0.004	0.65419	D	0.01	0.65728	D	0.144	0.27697	B	0.071	0.27960	B	0.016222	0.28032	N	0.269369	0.999166	0.21555	N	0	0.06538	N	2.58	0.13434	T	-2.48	0.54059	N	0.174	0.18649	-1.0082	0.27479	T	0.018	0.07234	T	10	0.019707441	0.00443	T	0.01315	0.32325	T	0.067	0.19503	.	.	0.0297737177859	0.01360	0.1583443531446281	0.15755	.	.	0.283104032278	0.07929	T	0.009524	0.08670	T	-0.540198	0.00334	T	-0.6597	0.08287	T	0.0245109001092747	0.01210	T	0.719228	0.33234	T	0.23441327	0.46261	0.12708941	0.30598	0.23441327	0.46261	0.12708941	0.30598	-3.738	0.19880	T	.	.	0.108	0.20391	B	.	.	0.805207	0.11760	8.335	0.89429840140590144	0.18790	0.12494	0.17303	N	AEBI	0.100413	0.20191	N	-1.06923175015626	0.07216	0.3345224	-1.01497936905102	0.09455	0.4705128	0.137019809938488	0.17201	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.81	-1.31	0.08749	-0.068000	0.11519	0.410000	0.18100	-0.717000	0.03845	0.002000	0.15269	0.975000	0.29991	0.858000	0.40661	0.3778:0.1164:0.5058:0.0	7.139	0.24723	345	0.85689	.	.	.	.	.	.	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	1	0	0	0	0.02381	1656.98	41	chr3	44244331	.	A	T	1656.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.098e+00;DP=1064;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.41;ReadPosRankSum=1.42;SOR=0.711	GT:AD:DP:GQ:PL	0/1:41,60:101:99:1671,0,1199	20	0	1	0
chr3	44594483	44594483	G	A	exonic	ZNF660	.	nonsynonymous SNV	ZNF660:NM_173658:exon3:c.G290A:p.R97Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	B	0.001	B	.	.	0.970	D	0.125	N	1.23	T	-1.031	T	0.025	T	0.103	-0.982	0.288	-2.0	-0.211	-0.534	6.191	0.037	0.00360343388579	0.0012	0.000998403	0.0002	0.0022	0.0002	0	0	1.498e-05	0.0011	0.0001	0.0002199	34	154602	rs149108320	0.0001	0.0001	0.0001	0.0001	0.0023	0.0001	9.415e-05	0.0019	0.0017	0.0023	0.0002	0	2.519e-05	0	0.0003	4.137e-05	0.0003	0.0002	0.0007	0.0007	0.0007	0.0006	0.0022	0.0006	0.0005	0.0019	0.0017	0.0022	0	0.0003	0	0	0	0	2.941e-05	0.0009	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999986	0.18198	N	-0.125	0.04555	N	1.23	0.36872	T	1.84	0.00489	N	0.051	0.02272	-1.0314	0.20002	T	0.025	0.10910	T	8	0.0046096444	0.00096	T	0.003603	0.08247	T	0.037	0.09474	.	.	0.110078149338	0.10416	0.05019904240082232	0.04962	0.0566683192148	0.06263	0.299887597561	0.10384	T	0.014623	0.12415	T	-0.652782	0.00070	T	-0.71631	0.04976	T	0.00253289677240118	0.00026	T	.	.	.	0.027891852	0.02046	0.051016614	0.08125	0.027891852	0.02046	0.051016614	0.08124	-0.603	0.00650	T	.	.	0.077	0.06617	B	.	.	0.606621	0.09749	6.518	0.76346722087009578	0.11431	0.00996	0.03776	N	AEFBCI	0.072026	0.14360	N	-1.33551426926523	0.03277	0.1461284	-1.25783516063914	0.05016	0.2380205	0.00496458636851078	0.10779	0.553676	0.25195	0	0.588015	0.36545	0	0.575934	0.27490	0	0.620846	0.47308	0	.	.	4.46	-2.0	0.07024	-0.184000	0.09693	-2.594000	0.03569	-1.346000	0.01198	0.000000	0.06391	0.000000	0.08366	0.860000	0.40782	0.5913:0.0:0.2665:0.1422	6.191	0.19738	326	0.86709	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1517.98	35	chr3	44594483	.	G	A	1517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=0.281;SOR=0.725	GT:AD:DP:GQ:PL	0/1:51,56:107:99:1532,0,1307	20	0	1	0
chr3	45966722	45966722	C	T	exonic	FYCO1	.	nonsynonymous SNV	FYCO1:NM_024513:exon8:c.G2612A:p.R871Q,	Cataract 18, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	889075	FYCO1-related_disorder|Cataract_18|Inborn_genetic_diseases	.|MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.54	T	0.006	B	0.001	B	0.342	N	1.000	N	0.205	N	-1.02	T	-0.980	T	0.153	T	0.04	-1.367	0.026	-1.78	-0.158	-0.797	6.248	0.072	0.0198960380222	0.0017	0.00119808	0.0006	0.0063	0.0006	0	0	3.038e-05	0	0.0002	0.0005563	86	154602	rs113517878	0.0002	0.0002	0.0002	0.0002	0.0056	0.0002	0.0002	0.0050	0.0047	0.0056	0.0004	0	0	0	0.0009	4.227e-05	0.0005	4.638e-05	0.0018	0.0018	0.0019	0.0017	0.0062	0.0016	0.0016	0.0055	0.0053	0.0062	0	0.0008	0	0	0	0.0068	2.941e-05	0.0005	0.0002	0.588	0.05844	T	0.603	0.08448	T	0.006	0.13644	B	0.001	0.04355	B	0.341949	0.04193	N	1.365360	1	0.08975	N	-0.55	0.02420	N	-1.02	0.76300	T	-0.23	0.10656	N	0.033	0.01421	-0.9795	0.35117	T	0.153	0.48257	T	10	0.0045630634	0.00095	T	0.019896	0.42377	T	0.072	0.21020	.	.	0.451213972277	0.44741	0.05996950872633272	0.05936	0.182716278974	0.20537	0.197780609131	0.00395	T	0.001129	0.00635	T	-0.606105	0.00134	T	-0.641485	0.09560	T	0.00052064446957751	0.00004	T	0.542346	0.18433	T	0.016235992	0.00184	0.026035003	0.00672	0.017638182	0.00289	0.027536618	0.00913	-3.438	0.15573	T	0.11607289882147052	0.10455	0.064	0.01786	B	.;.	.;.	0.016536	0.04396	1.141	0.54843158779386214	0.05219	0.03468	0.08623	N	AEFDBCIJ	0.045147	0.07351	N	-1.34390582746202	0.03188	0.1420141	-1.35310906679687	0.03769	0.1765069	0.999962014066606	0.48965	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.94	-1.78	0.07527	-0.799000	0.04665	-2.227000	0.04029	-0.823000	0.02940	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.169:0.2178:0.0:0.6132	6.248	0.20042	390	0.83257	.;.	.	.	.	.	.	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	0.02381	1466.98	36	chr3	45966722	.	C	T	1466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.58;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.71;ReadPosRankSum=-2.590e-01;SOR=0.737	GT:AD:DP:GQ:PL	0/1:55,52:107:99:1481,0,1327	20	0	1	0
chr3	46709586	46709586	-	AAG	exonic	TMIE	.	nonframeshift insertion	TMIE:NM_001370524:exon4:c.210_211insAAG:p.K78_D79insK	Deafness, autosomal recessive 6, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	36052.73	62	chr3	46709583	.	TAAG	T,TAAGAAG	36052.73	.	AC=25,1;AF=0.595,0.024;AN=42;BaseQRankSum=-3.730e-01;DP=1535;ExcessHet=4.5793;FS=0.569;InbreedingCoeff=-0.2115;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;MQRankSum=0.00;QD=28.75;ReadPosRankSum=0.200;SOR=0.670	GT:AD:DP:GQ:PL	0/1:35,20,0:55:99:700,0,1410,805,1470,2275	2	7	11	0
chr3	47067070	47067070	T	C	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon12:c.A5977G:p.T1993A	Luscan-Lumish syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	0.0005	0.058	452673	Luscan-Lumish_syndrome	MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.938	N	0.924	N	-0.895	N	-2.3	D	-0.853	T	0.268	T	0.046	0.983	9.015	-1.44	-0.132	1.252	11.449	0.243	0.0424187494244	0.0007	0.000998403	0.0003	0.0029	0.0002	0	0	1.499e-05	0	0	0.0002717	42	154602	rs113798770	9.212e-05	9.235e-05	0.0001	7.458e-05	0.0034	7.93e-05	7.402e-05	0.0029	0.0027	0.0034	0.0002	0	0	0	0	9.043e-07	0.0002	0	0.0010	0.0010	0.0010	0.0009	0.0034	0.0009	0.0008	0.0030	0.0028	0.0034	0	0.0003	0	0	0	0	1.47e-05	0.0014	0	0.325	0.13349	T	0.782	0.04302	T	0.0	0.02946	B	0.0	0.01387	B	0.938463	0.08370	N	0.965558	0.92413	0.27222	N	0.14	0.08730	N	-2.3	0.87671	D	-0.3	0.11913	N	0.037	0.01135	-0.8528	0.51774	T	0.268	0.63908	T	9	0.0043290854	0.00087	T	0.042419	0.60452	D	0.243	0.54921	.	.	0.400930682813	0.39710	0.07873780371775516	0.07808	0.541343025859	0.51294	0.359603345394	0.19328	T	0.058151	0.30764	T	-0.45723	0.01023	T	-0.431662	0.29747	T	0.00753227897833161	0.00087	T	0.159884	0.01439	T	0.025431326	0.01480	0.026515406	0.00745	0.016959136	0.00235	0.025488526	0.00595	-3.465	0.15945	T	.	.	0.060	0.00919	B	.	.	1.641892	0.20951	14.99	0.82910824058319998	0.14440	0.13588	0.17941	N	AEFBI	0.061504	0.11764	N	-0.681779680916686	0.16541	0.8436792	-0.522377132657002	0.21546	1.166094	0.988608045116017	0.31570	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	4.5	-1.44	0.08391	1.457000	0.34822	0.264000	0.16579	0.665000	0.62972	1.000000	0.71638	0.977000	0.30130	0.998000	0.85391	0.0:0.7537:0.0:0.2463	11.449	0.49385	15	0.98792	.	.	.	.	.	.	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	1	0	0	0	0.02381	1033.98	33	chr3	47067070	.	T	C	1033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.020;DP=776;ExcessHet=0.0000;FS=1.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.062;SOR=0.762	GT:AD:DP:GQ:PL	0/1:48,45:93:99:1048,0,1120	20	0	1	0
chr3	47336729	47336729	A	G	exonic	KLHL18	.	nonsynonymous SNV	KLHL18:NM_025010:exon7:c.A1093G:p.R365G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.143	B	0.057	B	0.000	D	0.951	D	1.3	L	-1.24	T	-0.796	T	0.282	T	0.484	2.145	13.13	-2.97	-0.349	1.440	17.736	0.392	0.0772903832753	0.0005	0.000798722	0.0002	0.0024	8.661e-05	0	0	1.501e-05	0	6.059e-05	0.0002393	37	154602	rs111660522	7.935e-05	7.935e-05	9.256e-05	6.6e-05	0.0029	6.734e-05	6.267e-05	0.0024	0.0022	0.0029	0.0001	0	0	0	0.0002	2.698e-06	0.0001	2.319e-05	0.0008	0.0008	0.0008	0.0007	0.0026	0.0006	0.0006	0.0022	0.0021	0.0026	0	0.0002	0	0	0	0	1.47e-05	0.0014	0	0.365	0.11732	T	0.38	0.15988	T	0.0	0.02946	B	0.003	0.08700	B	0.000308	0.45977	D	0.194672	0.950687	0.37706	D	1.69	0.43327	L	-1.24	0.78967	T	-1.38	0.34198	N	0.523	0.55280	-0.7962	0.55368	T	0.282	0.65419	T	10	0.012426883	0.00267	T	0.07729	0.72735	D	0.392	0.70764	.	.	0.52399798419	0.52045	0.4979704387118321	0.49718	0.843942256685	0.68200	0.391779601574	0.23920	T	0.345477	0.71386	T	-0.302429	0.08432	T	-0.211186	0.53581	T	0.0201461715915864	0.00715	T	0.861714	0.55578	D	0.14357775	0.32992	0.124825425	0.30083	0.14357775	0.32992	0.124825425	0.30082	-5.218	0.39124	T	.	.	0.134	0.29004	B	.	.	2.548060	0.32975	19.20	0.97549843129695357	0.34560	0.90697	0.52091	D	AEFBI	0.474337	0.51864	N	-0.545211732344216	0.20633	1.089182	-0.465745152038679	0.23104	1.258244	0.851072282494541	0.25046	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.711	0.71501	0	.	.	5.34	-2.97	0.05195	1.101000	0.30650	0.739000	0.21146	0.674000	0.70861	0.955000	0.33325	0.805000	0.26985	0.996000	0.76049	0.2819:0.7181:0.0:0.0	17.736	0.88303	17	0.98681	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2173.98	40	chr3	47336729	.	A	G	2173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.290e-01;DP=869;ExcessHet=0.0000;FS=2.709;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=-5.220e-01;SOR=0.934	GT:AD:DP:GQ:PL	0/1:86,81:167:99:2188,0,2271	20	0	1	0
chr3	47412892	47412892	A	G	exonic	PTPN23	.	nonsynonymous SNV	PTPN23:NM_001304482:exon24:c.A4240G:p.I1414V	.	.	.	.	.	.	.	.	.	.	.	1211202	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.566	N	1.000	N	0	N	4.42	T	-0.935	T	0.004	T	0.086	-1.523	0.016	-1.1	-0.092	0.053	8.518	0.013	0.0019166808463	0.0012	0.000998403	0.0004	0.0042	0.0002	0	0	1.573e-05	0	0	0.0003558	55	154602	rs111852098	0.0001	0.0001	0.0001	9.927e-05	0.0046	0.0001	0.0001	0.0040	0.0038	0.0046	0.0003	0	0	0	0.0002	2.705e-06	0.0002	0	0.0011	0.0011	0.0012	0.0010	0.0038	0.0009	0.0009	0.0033	0.0031	0.0038	0	0.0003	0	0	0	0	1.475e-05	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.566035	0.05452	N	1.274510	1	0.08975	N	0.345	0.11182	N	4.42	0.02177	T	0.21	0.04776	N	0.045	0.01740	-0.9346	0.43455	T	0.004	0.01365	T	10	0.0037618876	0.00070	T	0.001917	0.03404	T	0.013	0.01715	.	.	0.134007934775	0.12933	0.12540307473598242	0.12466	0.0522162305088	0.05745	0.431750178337	0.29448	T	0.036735	0.24216	T	-0.68088	0.00047	T	-0.750135	0.03480	T	0.00348011345274469	0.00037	T	0.346965	0.07635	T	0.024399515	0.01267	0.02484025	0.00510	0.024399515	0.01267	0.02484025	0.00510	-1.628	0.02048	T	.	.	0.058	0.00717	B	.	.	0.097903	0.04999	1.557	0.65147556465362244	0.07691	0.08494	0.14416	N	AEFDBCI	0.047983	0.08140	N	-1.36689613049696	0.02954	0.1312127	-1.31505418730076	0.04235	0.1993377	0.999955199056079	0.48110	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.2	-1.1	0.09367	-0.144000	0.10263	-0.090000	0.12069	-0.208000	0.08445	0.000000	0.06391	0.000000	0.08366	0.715000	0.34611	0.292:0.1835:0.5244:0.0	8.518	0.32420	20	0.98525	.	.	.	.	.	.	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	1	0	0	0	0.02381	466.98	70	chr3	47412892	.	A	G	466.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.240e-01;DP=1124;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.98;ReadPosRankSum=-1.777e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/1:33,19:52:99:481,0,968	20	0	1	0
chr3	47911004	47911004	C	T	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.G3348A:p.M1116I	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	3.23	T	-0.936	T	0.003	T	0.095	1.348	10.43	1.43	0.361	-0.368	5.726	0.008	.	.	0.0115815	0.0017	0.0320	0.0054	0	0	0	0.0076	0.0001	0.000815	126	154602	rs72909697	0.0009	0.0009	0.0011	0.0008	0.0326	0.0009	0.0009	0.0310	0.0303	0.0326	0.0020	0	0	0	0.0023	5.191e-05	0.0022	8.835e-05	0.0093	0.0094	0.0094	0.0093	0.0325	0.0089	0.0088	0.0311	0.0305	0.0325	0	0.0029	0	0	0	0	0.0002	0.0066	0	0.173	0.22573	T	0.465	0.12421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-0.07	0.08033	N	0.172	0.18376	-0.9358	0.43272	T	0.003	0.01026	T	5	0.0027945638	0.00044	T	.	.	.	0.008	0.00669	0.214	0.13354	0.123314135267	0.11883	.	.	.	.	.	.	.	0.014688	0.12455	T	-0.704389	0.00034	T	-0.760208	0.03105	T	0.000391851407907039	0.00003	T	0.412459	0.10726	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.48736	B	.	.	-0.217527	0.03003	0.454	0.51009645455420538	0.04485	0.02396	0.06793	N	ALL	.	.	.	-0.800057513096817	0.13309	0.6547167	-0.917331731954871	0.11685	0.5968351	1.0	0.98316	0.676195	0.55175	0	0.546412	0.12157	0	0.564498	0.18976	0	0.466023	0.07079	0	.	.	5.38	1.43	0.21585	-0.481000	0.06631	-1.611000	0.05064	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.1361:0.6431:0.0:0.2208	5.726	0.17280	8	0.99202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3167.98	83	chr3	47911004	.	C	T	3167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.244;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=0.925;SOR=0.713	GT:AD:DP:GQ:PL	0/1:116,113:229:99:3182,0,3158	20	0	1	0
chr3	48174283	48174283	C	G	splicing	CDC25A	NM_201567:exon8:c.810+1G>C;NM_001789:exon9:c.930+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.391	17.44	4.72	2.632	2.205	11.513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.872e-07	1.71e-05	0	1.381e-06	3.025e-05	0	0	.	.	3.025e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.392481	0.89476	D	0.325996	0.89343	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.000131	0.82956	27.9	0.98231250675388404	0.39396	0.95833	0.66349	D	AEFBI	.	.	.	1.00404451880619	0.95868	14.04926	0.84618449324408	0.92792	11.63411	0.999998650712667	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.082826	0.02530	0	0.117559	0.03655	0	0.957114	0.64042	5.6	4.72	0.59248	2.505000	0.45084	6.999000	0.57189	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.844000	0.39860	0.0:0.9136:0.0:0.0864	11.513	0.49752	22	0.98466	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	152.25	73	chr3	48174283	.	C	G	152.25	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-3.184e+00;DP=1667;ExcessHet=0.1072;FS=139.614;InbreedingCoeff=-0.1264;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=0.92;ReadPosRankSum=0.704;SOR=10.723	GT:AD:DP:GQ:PL	0/1:37,30:67:99:130,0,534	14	0	2	5
chr3	48639983	48639983	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.G9602A:p.R3201Q,	.	.	426	1091	5	0	0	5	0.00228624	.	.	708919	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.26	T	0.899	P	0.17	B	.	.	0.996	D	0.975	L	-0.58	T	-0.845	T	0.079	T	0.074	3.111	16.39	3.98	2.267	2.686	16.776	0.100	.	0.0108	0.00998403	0.0030	0.0339	0.0013	0	0	9.265e-05	0.0012	0	0.0028266	437	154602	rs115648137	0.0010	0.0010	0.0011	0.0009	0.0323	0.0009	0.0009	0.0307	0.0301	0.0323	0.0017	0	0	0	0.0026	9.083e-05	0.0020	2.319e-05	0.0089	0.0089	0.0093	0.0085	0.0307	0.0085	0.0084	0.0293	0.0288	0.0307	0	0.0040	0	0	0	0	0.0002	0.0052	0	0.062	0.36912	T	0.327	0.18732	T	0.71	0.42074	P	0.082	0.29098	B	.	.	.	.	0.995548	0.42740	D	1.2	0.30300	L	-0.59	0.71543	T	-0.85	0.23156	N	0.179	0.19325	-0.8453	0.52291	T	0.079	0.31496	T	9	0.0035739243	0.00065	T	.	.	.	0.100	0.28662	.	.	0.494135641928	0.49047	0.2207787255585139	0.21992	0.432164153585	0.43397	0.307514727116	0.11532	T	0.246804	0.61633	T	-0.490731	0.00644	T	-0.453992	0.27256	T	0.0170828891610625	0.00455	T	0.888611	0.61875	D	0.09437485	0.22188	0.111455224	0.26886	0.09437485	0.22188	0.111455224	0.26885	-4.715	0.33585	T	.	.	0.084	0.09917	B	.	.	3.688008	0.52528	23.2	0.99749110590954015	0.84152	0.95334	0.64316	D	AEFBI	0.614476	0.60178	D	0.0885783799344464	0.45930	2.841461	0.177850107080979	0.48636	3.076838	0.999986579004849	0.51787	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	4.92	3.98	0.45383	1.741000	0.37862	4.942000	0.46218	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.8596:0.1404:0.0	16.776	0.85412	4	0.99387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	778.98	35	chr3	48639983	.	C	T	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.76;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-3.330e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:40,27:67:99:793,0,1047	20	0	1	0
chr3	48645117	48645117	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon25:c.G7890A:p.M2630I,	.	.	415	1027	71	9	0	89	0.0415306	.	.	48715	not_provided|Variant_of_unknown_significance	MedGen:C3661900|MedGen:C2986382	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	0.987	D	0.908	P	.	.	1.000	D	2.295	M	1.29	T	-0.644	T	0.226	T	0.875	5.093	31	5.24	2.450	7.460	18.828	0.393	.	0.0009	0.00319489	0.0044	0.0002	0.0027	0	0.0002	0.0026	0.0084	0.0197	0.0036869	570	154602	rs149614835	0.0024	0.0025	0.0019	0.0030	0.0382	0.0024	0.0024	0.0341	0.0325	0.0009	0.0017	0.0094	5.072e-05	0.0003	0.0382	0.0011	0.0040	0.0181	0.0018	0.0018	0.0015	0.0020	0.0190	0.0016	0.0015	0.0159	0.0147	0.0003	0	0.0020	0.0098	0	0.0002	0.0170	0.0013	0.0024	0.0190	0.006	0.61437	D	0.005	0.72224	D	0.987	0.61912	D	0.908	0.64494	P	.	.	.	.	1	0.81001	D	2.13	0.59329	M	1.29	0.35775	T	-3.59	0.69236	D	0.812	0.80767	-0.6440	0.62974	T	0.226	0.59007	T	9	0.011453748	0.00250	T	.	.	.	0.393	0.70844	0.547	0.66156	0.808317247251	0.80651	0.8152272965699411	0.81478	0.981655826999	0.73759	0.719656050205	0.69997	T	0.370865	0.73533	T	-0.112624	0.34336	T	0.0810421	0.75648	D	0.0384281591043975	0.03409	T	0.772323	0.40326	T	0.5032531	0.67286	0.45666093	0.68420	0.5032531	0.67287	0.45666093	0.68420	-10.2	0.75100	D	.	.	0.409	0.60090	A	.	.	4.422272	0.68507	25.2	0.99749842171488468	0.84152	0.98385	0.82238	D	AEFBI	0.885987	0.81699	D	0.678335262368401	0.78214	6.826448	0.68768746655041	0.81442	7.527931	0.999999999992481	0.74766	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	5.24	5.24	0.72863	7.541000	0.81014	2.197000	0.31255	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.828	0.92093	4	0.99387	GPCR, family 2-like	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2795.11	38	chr3	48645117	.	C	T	2795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.390e-01;DP=888;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=-1.810e-01;SOR=0.726	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1090,0,1242	19	0	2	0
chr3	48647948	48647948	C	T	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon20:c.G7022A:p.R2341H,	.	.	420	1094	7	1	0	9	0.0040965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.004	B	0.007	B	.	.	1.000	N	1.1	L	2.95	T	-0.985	T	0.022	T	0.147	1.433	10.73	-0.954	-0.145	0.242	10.239	0.024	0.00755221132403	.	0.000399361	0.0005	0	0.0003	0.0001	0	0	0.0034	0.0034	0.0004269	66	154602	rs574354699	0.0002	0.0002	0.0001	0.0003	0.0034	0.0002	0.0002	0.0030	0.0029	0	0	0	0.0001	0	0.0024	1.169e-05	0.0002	0.0034	8.552e-05	8.533e-05	5.147e-05	0.0001	0.0021	4.963e-05	3.967e-05	0.0011	0.0009	0	0	0	0	0.0004	0	0	0	0.0005	0.0021	0.185	0.21550	T	0.14	0.33554	T	0.003	0.11197	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.945	0.23706	L	2.95	0.09635	T	-0.56	0.17003	N	0.285	0.32259	-0.9845	0.33951	T	0.022	0.09330	T	9	0.00953874	0.00215	T	0.007552	0.20033	T	0.024	0.04979	0.543	0.65589	0.223474106383	0.21959	0.4242140037484205	0.42338	0.328660908213	0.34977	0.380007535219	0.22257	T	0.115768	0.43461	T	-0.620283	0.00110	T	-0.664609	0.07959	T	0.0313450222309768	0.02201	T	0.707729	0.31835	T	0.027174663	0.01873	0.045109425	0.05996	0.027174663	0.01873	0.045109425	0.05996	-4.297	0.28135	T	.	.	0.076	0.05756	B	.	.	1.097707	0.14821	11.35	0.9343131853635136	0.23203	0.11176	0.16459	N	AEFDBI	0.072035	0.14363	N	-1.23125841025568	0.04553	0.2057063	-1.21904679233473	0.05604	0.2674812	0.127596208219731	0.17023	0.695654	0.57023	0	0.670034	0.63936	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.94	-0.954	0.09831	0.089000	0.14843	-0.553000	0.08518	-1.631000	0.00853	0.003000	0.16062	0.000000	0.08366	0.816000	0.38450	0.0:0.6151:0.0:0.3849	10.239	0.42479	4	0.99387	GAIN domain, N-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	1	0	0	0	0.02381	375.98	36	chr3	48647948	.	C	T	375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.227e+00;DP=750;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.06;ReadPosRankSum=1.44;SOR=0.603	GT:AD:DP:GQ:PL	0/1:42,20:62:99:390,0,1104	20	0	1	0
chr3	49292593	49292593	T	C	exonic	USP4	.	nonsynonymous SNV	USP4:NM_199443:exon14:c.A1748G:p.Y583C	.	.	.	.	.	.	.	.	.	.	.	734152	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.686	P	0.443	B	0.000	D	1.000	D	2.93	M	2.02	T	-1.017	T	0.077	T	0.399	1.067	9.359	4.26	0.974	2.573	6.339	0.187	0.0209759251913	0.0016	0.00239617	0.0009	0.0089	0.0012	0	0	0	0	0	0.0005757	89	154602	rs149131437	0.0002	0.0002	0.0002	0.0002	0.0062	0.0002	0.0002	0.0055	0.0052	0.0062	0.0004	0	0	0	0.0009	2.824e-05	0.0005	0	0.0018	0.0018	0.0019	0.0017	0.0063	0.0016	0.0015	0.0057	0.0054	0.0063	0	0.0005	0	0	0	0	1.47e-05	0.0009	0	0.01	0.56456	D	0.029	0.58613	D	0.686	0.41548	P	0.315	0.42079	B	0.000004	0.62929	D	0.109441	0.999882	0.50402	D	3.345	0.91022	M	1.88	0.23884	T	-8.15	0.97008	D	0.482	0.52208	-1.0170	0.24690	T	0.077	0.30706	T	10	0.012220681	0.00264	T	0.020976	0.43675	T	0.187	0.46274	.	.	0.699407080317	0.69680	0.6423895355781974	0.64173	0.347770780837	0.36658	0.685680091381	0.65085	T	0.274684	0.64719	T	-0.387397	0.02796	T	-0.325799	0.41935	T	0.13684565505225	0.16000	T	0.914409	0.69449	D	0.7707136	0.82091	0.7562231	0.85593	0.7707136	0.82092	0.7562231	0.85594	-10.166	0.75407	D	.	.	0.750	0.77878	P	.;.	.;.	3.726297	0.53274	23.3	0.98357840545958941	0.40608	0.91059	0.52779	D	AEFDBI	0.175176	0.30234	N	0.120337777995073	0.47412	2.967295	0.100701357467852	0.44585	2.73741	0.844612683459978	0.24930	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.44	4.26	0.49832	2.586000	0.45785	4.201000	0.42469	0.661000	0.55757	0.995000	0.38783	1.000000	0.68203	0.695000	0.33988	0.1429:0.078:0.0:0.7791	6.339	0.20517	1	0.99630	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	0.02381	1092.98	40	chr3	49292593	.	T	C	1092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=893;ExcessHet=0.0000;FS=0.716;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.67;ReadPosRankSum=1.72;SOR=0.599	GT:AD:DP:GQ:PL	0/1:83,43:126:99:1107,0,2258	20	0	1	0
chr3	49358244	49358246	GCC	-	exonic	GPX1	.	nonframeshift deletion	GPX1:NM_001329455:exon1:c.33_35del:p.A13del,	Hemolytic anemia due to glutathione peroxidase deficiency, Autosomal recessive	.	33	116	273	343	757	1716	0.805206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	62247.2	96	chr3	49358240	.	GGCCGCC	G,GGCC	62247.2	.	AC=20,13;AF=0.476,0.310;AN=42;BaseQRankSum=0.442;DP=2322;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=20,13;MLEAF=0.476,0.310;MQ=56.82;MQRankSum=-5.003e+00;QD=32.09;ReadPosRankSum=-2.300e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:43,37,0:80:99:1426,0,1693,1555,1806,3361	0	4	6	0
chr3	49808993	49808993	G	A	exonic	UBA7	.	nonsynonymous SNV	UBA7:NM_003335:exon18:c.C2330T:p.S777L,	.	.	409	1112	1	0	0	1	0.000449438	.	.	2445695	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.2	T	0.035	B	0.022	B	0.052	N	1.000	N	0.345	N	1.03	T	-1.053	T	0.047	T	0.04	2.308	13.67	-8.82	-2.878	-1.805	0.865	0.006	0.00192256730063	.	.	7.084e-05	0	0	0	0	3.205e-05	0	0.0004	5.17e-05	8	154602	rs776826132	4.79e-05	4.788e-05	4.085e-05	5.503e-05	0.0007	3.861e-05	3.541e-05	0.0003	0.0002	2.987e-05	0	3.828e-05	2.519e-05	0	0.0007	2.248e-05	0.0001	0.0003	3.285e-05	3.283e-05	2.569e-05	4.034e-05	0.0004	1.261e-05	7.98e-06	7.279e-05	3.025e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0004	0.19	0.21144	T	0.299	0.20422	T	0.035	0.20614	B	0.022	0.19653	B	0.051830	0.02029	N	2.286060	1	0.08975	N	0.16	0.08945	N	1.03	0.40469	T	-1.68	0.40082	N	0.083	0.05929	-1.0534	0.13466	T	0.047	0.19998	T	10	0.024838477	0.00698	T	0.001923	0.03404	T	0.006	0.00375	0.302	0.27003	0.0551355673512	0.04727	0.1548110912903082	0.15402	0.190059995647	0.21322	0.230812847614	0.02029	T	0.146192	0.48367	T	-0.568944	0.00225	T	-0.749049	0.03523	T	0.0254621862200264	0.01334	T	0.611839	0.23263	T	0.059699934	0.12165	0.05376696	0.09118	0.059699934	0.12164	0.05376696	0.09118	-4.341	0.28748	T	.	.	0.066	0.02200	B	.	.	0.121028	0.05184	1.700	0.73734975216594745	0.10436	0.02440	0.06875	N	AEFDGBIJ	0.061396	0.11736	N	-1.60285465182563	0.01250	0.05439548	-1.69893020581312	0.01142	0.05136243	0.999999997480955	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.635551	0.53088	0	.	.	4.41	-8.82	0.00699	-2.355000	0.01168	-1.670000	0.04947	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.880000	0.42090	0.1918:0.1516:0.2602:0.3964	0.865	0.01124	2	0.99499	THIF-type NAD/FAD binding fold|Ubiquitin-activating enzyme, catalytic cysteine domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1025.98	43	chr3	49808993	.	G	A	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=785;ExcessHet=0.0000;FS=1.811;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=0.134;SOR=0.913	GT:AD:DP:GQ:PL	0/1:47,39:86:99:1040,0,1059	20	0	1	0
chr3	51993843	51993843	-	CCTTGG	exonic	RPL29	.	nonframeshift insertion	RPL29:NM_000992:exon4:c.385_386insCCAAGG:p.K130_D131insAK,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	9890.36	23	chr3	51993837	.	TCCTTGG	TCCTTGGCCTTGG,T	9890.36	.	AC=10,8;AF=0.250,0.200;AN=40;BaseQRankSum=0.471;DP=604;ExcessHet=4.5531;FS=11.809;InbreedingCoeff=-0.2121;MLEAC=10,8;MLEAF=0.250,0.200;MQ=57.96;MQRankSum=0.00;QD=24.85;ReadPosRankSum=-3.600e-02;SOR=1.183	GT:AD:DP:GQ:PL	0/2:6,0,6:12:99:234,252,504,0,252,234	5	0	8	1
chr3	52293014	52293014	A	G	exonic	GLYCTK	.	nonsynonymous SNV	GLYCTK:NM_145262:exon5:c.A1460G:p.N487S,	D-glyceric aciduria, Autosomal recessive	.	0	1514	8	0	0	8	0.00263505	.	.	246951	not_provided|not_specified|D-Glyceric_aciduria	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009070,MedGen:C0342765,OMIM:220120,Orphanet:941	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.187	B	0.192	B	0.000	N	1.000	D	1.765	L	0.38	T	-0.990	T	0.141	T	0.13	1.816	12.03	2.48	0.828	4.376	9.02	0.129	0.0422751941063	.	.	0.0004	0	0.0003	0	0	0.0004	0	0.0010	0.0003234	50	154602	rs767047161	0.0003	0.0003	0.0003	0.0003	0.0139	0.0003	0.0003	0.0114	0.0105	0.0002	0.0004	0.0005	0	1.873e-05	0.0139	0.0002	0.0009	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0	0	0.0004	0.0006	0	0	0	0.0003	0.0009	0.0004	0.047	0.40319	D	0.097	0.39190	T	0.187	0.29285	B	0.192	0.36449	B	0.000002	0.62929	N	0.098721	0.995804	0.81001	D	2.13	0.59329	M	0.38	0.57575	T	-4.34	0.76822	D	0.22	0.24634	-0.9900	0.32601	T	0.141	0.46128	T	9	0.19232413	0.34956	T	0.042275	0.60377	D	0.129	0.35316	.	.	0.733223214259	0.73084	0.8208690277399036	0.82043	0.398029042616	0.40875	0.409190148115	0.26344	T	0.595963	0.86980	D	-0.402303	0.02236	T	-0.439811	0.28830	T	0.0983960704637639	0.12179	T	0.854015	0.53996	D	0.21738926	0.44221	0.19266301	0.42794	0.21738926	0.44221	0.19266301	0.42793	-7.605	0.58346	D	0.2640431350870357	0.35615	0.090	0.12465	B	.	.	2.087421	0.26551	17.16	0.96395010098195777	0.29668	0.91535	0.53733	D	AEFDGBHCI	0.749270	0.69076	D	-0.246931970390723	0.31225	1.748818	-0.150568729686512	0.33387	1.90925	0.999997238413112	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.22	2.48	0.29194	4.368000	0.59276	1.816000	0.29002	-0.041000	0.17446	1.000000	0.71638	0.492000	0.25158	0.987000	0.62547	0.7647:0.0:0.2353:0.0	9.02	0.35355	85	0.96447	MOFRL domain	.	.	.	.	.	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	0.02381	2511.98	34	chr3	52293014	.	A	G	2511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.366;DP=920;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=0.647;SOR=0.660	GT:AD:DP:GQ:PL	0/1:113,102:215:99:2526,0,2797	20	0	1	0
chr3	53192216	53192216	G	A	exonic	PRKCD	.	nonsynonymous SNV	PRKCD:NM_001354676:exon18:c.G2038A:p.A680T	Autoimmune lymphoproliferative syndrome, type III, Autosomal recessive	.	0	224	2	0	0	2	0.00444444	.	.	519641	Autoimmune_lymphoproliferative_syndrome,_type_III_caused_by_mutation_in_PRKCD|not_provided	MONDO:MONDO:8000024,MedGen:C3809928,OMIM:615559,Orphanet:3261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.18	T	0.216	B	0.042	B	0.372	N	1.000	N	1.65	L	0.4	T	-1.023	T	0.110	T	0.208	0.413	6.244	1.09	0.013	0.553	5.496	0.040	0.0370086485431	7.7e-05	0.000199681	5.766e-05	9.612e-05	0	0	0.0005	4.495e-05	0	0	5.17e-05	8	154602	rs149202171	6.499e-05	6.498e-05	7.214e-05	5.775e-05	0.0009	5.428e-05	5.041e-05	0.0003	0.0002	0.0005	0	0	0	0.0002	0.0009	4.676e-05	9.934e-05	3.478e-05	4.599e-05	4.594e-05	0	9.406e-05	0.0004	2.109e-05	1.527e-05	7.29e-05	3.029e-05	7.225e-05	0	0	0	0	9.443e-05	0	1.47e-05	0	0.0004	0.099	0.30656	T	0.612	0.07642	T	0.216	0.30161	B	0.042	0.24114	B	0.372308	0.13509	N	0.746982	1	0.08975	N	1.245	0.31408	L	0.4	0.57261	T	-0.28	0.11547	N	0.073	0.05162	-1.0229	0.22769	T	0.110	0.39723	T	10	0.06635514	0.09088	T	0.037009	0.57349	D	0.040	0.10527	.	.	0.528917257038	0.52539	0.5314265747859575	0.53067	0.983416448727	0.73821	0.330139040947	0.14955	T	0.137951	0.47118	T	-0.298387	0.08812	T	-0.510023	0.21312	T	0.0150590536821841	0.00325	T	0.845715	0.52486	T	0.023147728	0.01030	0.042178694	0.04962	0.023147728	0.01030	0.042178694	0.04962	-6.133	0.47379	T	.	.	.	.	.	.;.	.;.	0.728776	0.10979	7.642	0.94068580495903931	0.24209	0.14252	0.18304	N	AEFDGBCI	0.144418	0.26737	N	-0.950201903332971	0.09687	0.4596009	-1.01593997445553	0.09435	0.4693683	0.999981555782797	0.51787	0.706298	0.61202	0	0.601644	0.50151	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.06	1.09	0.19517	0.287000	0.18678	-0.161000	0.11322	-0.148000	0.12190	0.000000	0.06391	0.000000	0.08366	0.057000	0.15750	0.0761:0.3963:0.3918:0.1358	5.496	0.16093	466	0.78352	Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal|Novel protein kinase C delta, catalytic domain;Protein kinase, C-terminal|AGC-kinase, C-terminal|AGC-kinase, C-terminal|Novel protein kinase C delta, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1915.98	33	chr3	53192216	.	G	A	1915.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.080e-01;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.47;ReadPosRankSum=0.816;SOR=0.671	GT:AD:DP:GQ:PL	0/1:84,83:167:99:1930,0,1994	20	0	1	0
chr3	57446077	57446077	A	G	exonic	DNAH12	.	nonsynonymous SNV	DNAH12:NM_001366028:exon27:c.T4133C:p.M1378T,	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.985	D	.	.	1.000	D	3.805	H	1.4	T	-0.378	T	0.113	T	0.895	3.105	16.37	5.08	1.894	8.717	14.842	0.722	.	0.0114	0.0121805	0.0046	0.0456	0.0027	0	0	0.0001	0.0084	0.0003	0.0012548	194	154602	rs138623026	0.0011	0.0011	0.0013	0.0010	0.0369	0.0011	0.0011	0.0351	0.0344	0.0369	0.0026	0	0	0	0.0030	0.0001	0.0029	0.0001	0.0100	0.0100	0.0099	0.0101	0.0332	0.0096	0.0094	0.0317	0.0311	0.0332	0	0.0072	0	0	0	0.0136	0.0002	0.0090	0.0002	0.0	0.91255	D	.	.	.	0.994	0.66517	D	0.985	0.76457	D	.	.	.	.	0.866215	0.35478	D	3.785	0.95291	H	1.4	0.33630	T	-6.0	0.89534	D	0.833	0.82862	-0.3778	0.72721	T	0.113	0.40238	T	9	0.012037545	0.00260	T	.	.	.	0.722	0.90191	.	.	0.646728458513	0.64380	.	.	.	.	0.828331232071	0.86307	D	0.181108	0.53268	T	-0.0745708	0.40594	T	0.148676	0.80100	D	0.0800500473995925	0.09994	T	0.910209	0.68156	D	0.85697854	0.87857	0.8870537	0.94058	0.85697854	0.87858	0.8870537	0.94059	-13.96	0.92926	D	.	.	0.978	0.90774	P	.;.	.;.	4.554964	0.71721	25.7	0.98346830312057909	0.40497	0.99585	0.97709	D	AEFBI	0.911641	0.87119	D	0.923991866157188	0.92885	11.688	0.829578726015096	0.91767	11.05807	0.999999931129453	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.08	5.08	0.68373	8.739000	0.91269	9.717000	0.81353	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.842	0.69865	270	0.89404	Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase domain;Dynein heavy chain, hydrolytic ATP-binding dynein motor region D1|AAA+ ATPase 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	0.02381	530.98	48	chr3	57446077	.	A	G	530.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.609e+00;DP=831;ExcessHet=0.0000;FS=2.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=0.464;SOR=0.384	GT:AD:DP:GQ:PL	0/1:34,23:57:99:545,0,971	20	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	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	49921.47	133	chr3	75730451	.	T	G	49921.47	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-1.927e+00;DP=2763;ExcessHet=51.1880;FS=6.167;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.525;MQ=54.60;MQRankSum=-6.357e+00;QD=18.50;ReadPosRankSum=1.68;SOR=0.393	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,107:148:99:0|1:75730450_C_T:4267,0,1359:75730450	0	0	20	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	1725.72	84	chr3	75730611	.	G	T	1725.72	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.901;DP=1563;ExcessHet=6.1002;FS=32.590;InbreedingCoeff=-0.3415;MLEAC=10;MLEAF=0.250;MQ=56.09;MQRankSum=-5.845e+00;QD=2.20;ReadPosRankSum=-2.408e+00;SOR=8.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,16:70:99:0|1:75730558_C_T:509,0,2219:75730558	10	0	10	1
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	13057.87	155	chr3	75736884	.	G	GA	13057.87	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-2.070e-01;DP=3250;ExcessHet=25.1139;FS=1.336;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=56.86;MQRankSum=-7.182e+00;QD=4.87;ReadPosRankSum=0.148;SOR=0.572	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:130,30:160:99:.:.:390,0,4830	4	0	17	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F	.	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.024	B	0.002	B	.	.	1.000	N	0	N	3.37	T	-0.932	T	0.010	T	0.477	1.695	11.63	-0.734	-0.244	-0.140	5.509	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4762	30918.43	158	chr3	75736891	.	G	A	30918.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.300e-01;DP=3330;ExcessHet=43.6797;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=57.04;MQRankSum=-9.187e+00;QD=9.77;ReadPosRankSum=0.205;SOR=0.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,67:164:99:0|1:75736891_G_A:2480,0,3758:75736891	1	0	20	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D	.	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.111	B	0.006	B	.	.	1.000	N	0	N	3.39	T	-0.948	T	0.010	T	0.567	0.479	6.601	-0.249	-0.078	-0.941	3.115	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28820.74	164	chr3	75736920	.	C	A	28820.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.130e-01;DP=3467;ExcessHet=54.0936;FS=2.025;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.55;MQRankSum=-8.791e+00;QD=8.35;ReadPosRankSum=0.030;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,61:159:99:0|1:75736891_G_A:2266,0,3931:75736891	0	0	21	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I	.	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.219	B	0.007	B	.	.	1.000	N	0	N	3.47	T	-0.947	T	0.008	T	0.512	0.877	8.556	0.364	0.148	-0.065	3.729	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28464.74	166	chr3	75736928	.	C	T	28464.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.43;DP=3516;ExcessHet=54.0936;FS=0.608;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.92;MQRankSum=-9.076e+00;QD=8.18;ReadPosRankSum=-5.000e-02;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,59:159:99:0|1:75736891_G_A:2176,0,4015:75736891	0	0	21	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R	.	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.02	B	0.004	B	.	.	1.000	N	0	N	5.46	T	-0.923	T	0.002	T	0.494	-0.366	2.277	-0.78	-0.138	-1.375	1.651	0.100	0.000733824032747	.	.	.	.	.	.	.	.	.	.	0.0486399	1266	26028	rs75085872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.534	0.06935	T	0.328	0.18675	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.46	0.00959	T	-0.86	0.23372	N	0.037	0.01135	-0.9235	0.45070	T	0.002	0.00526	T	9	0.048223555	0.04243	T	7.34E-4	0.00491	T	0.100	0.28662	.	.	0.0138822411134	0.00435	5.567766943860148E-4	0.00051	.	.	0.401793837547	0.25319	T	.	.	.	-0.241342	0.15177	T	-0.584447	0.14150	T	0.043195366142589	0.04273	T	0.0990901	0.00735	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.45665	B	.	.	0.535899	0.09045	5.828	0.71875029535553825	0.09778	0.00552	0.02527	N	AEFDBHCI	0.039909	0.05861	N	-1.49109708187503	0.01912	0.08392857	-1.53516138275096	0.02080	0.09511815	0.999952974710247	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.0	0.00061	3	0.264475	0.05362	3	.	.	1.92	-0.78	0.10416	-4.136000	0.00326	.	.	-1.203000	0.01359	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2929:0.1901:0.0:0.5171	1.651	0.02605	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	17679.81	152	chr3	75736981	.	T	C	17679.81	.	AC=17;AF=0.500;AN=34;BaseQRankSum=-2.640e-01;DP=3565;ExcessHet=25.1139;FS=0.572;InbreedingCoeff=-0.8248;MLEAC=19;MLEAF=0.559;MQ=52.43;MQRankSum=-7.792e+00;QD=6.08;ReadPosRankSum=-1.711e+00;SOR=0.773	GT:AD:DP:GQ:PL	0/1:80,56:136:99:1328,0,2254	0	0	17	4
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K	.	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.049	B	0.048	B	.	.	1.000	N	-0.705	N	2.16	T	-0.957	T	0.015	T	0.509	0.585	7.159	-0.008	0.009	-2.650	2.041	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	25498.56	170	chr3	75737012	.	C	T	25498.56	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-8.280e-01;DP=3725;ExcessHet=36.0830;FS=0.550;InbreedingCoeff=-0.8529;MLEAC=19;MLEAF=0.475;MQ=53.26;MQRankSum=-5.813e+00;QD=7.76;ReadPosRankSum=-2.080e-01;SOR=0.798	GT:AD:DP:GQ:PL	0/1:75,61:136:99:1615,0,2193	1	0	19	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P	.	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.178	B	0.056	B	.	.	1.000	N	2.8	M	3.15	T	-1.043	T	0.033	T	0.597	1.732	11.75	1.59	1.020	-3.336	7.316	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	.	.	.	.	.	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	0.4762	33734.43	171	chr3	75737060	.	A	G	33734.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.003e+00;DP=4296;ExcessHet=43.6797;FS=0.535;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=53.79;MQRankSum=-5.923e+00;QD=8.57;ReadPosRankSum=1.41;SOR=0.754	GT:AD:DP:GQ:PL	0/1:83,92:175:99:2294,0,2719	1	0	20	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y	.	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	1.000	N	3.55	H	-1.94	D	-0.050	T	0.770	D	0.423	2.226	13.40	0.518	0.202	3.803	5.69	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	.	.	.	.	.	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	0.5	66693.74	186	chr3	75737092	.	C	T	66693.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.370e+00;DP=4347;ExcessHet=54.0936;FS=3.268;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.30;MQRankSum=-9.287e+00;QD=15.47;ReadPosRankSum=0.780;SOR=0.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,109:202:99:0|1:75737092_C_T:4282,0,3577:75737092	0	0	21	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S	.	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.003	B	.	.	0.811	N	0.185	N	2.5	T	-0.966	T	0.015	T	0.48	0.761	8.026	-1.65	-0.344	-3.350	0.098	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	.	.	.	.	.	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	0.5	66461.74	187	chr3	75737094	.	T	A	66461.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.054e+00;DP=4329;ExcessHet=54.0936;FS=4.136;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.41;MQRankSum=-9.552e+00;QD=15.42;ReadPosRankSum=0.880;SOR=0.976	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,109:204:99:0|1:75737092_C_T:4276,0,3661:75737092	0	0	21	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X	.	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.506	37	1.59	1.020	2.954	7.316	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	64403.74	176	chr3	75737105	.	T	A	64403.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.795e+00;DP=4269;ExcessHet=54.0936;FS=5.083;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=55.87;MQRankSum=-1.015e+01;QD=15.17;ReadPosRankSum=0.373;SOR=1.023	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,108:206:99:0|1:75737092_C_T:4240,0,3790:75737092	0	0	21	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q	.	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.738	P	0.672	P	.	.	1.000	N	3.595	H	-2.18	D	0.069	D	0.747	D	0.504	1.222	9.956	0.372	0.124	0.275	4.797	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54907.74	170	chr3	75737127	.	A	C	54907.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.246e+00;DP=4011;ExcessHet=54.0936;FS=5.236;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.48;MQRankSum=-1.090e+01;QD=13.78;ReadPosRankSum=0.018;SOR=1.116	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,92:191:99:0|1:75737092_C_T:3565,0,3880:75737092	0	0	21	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del	.	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	31686.7	129	chr3	75737163	.	CCTACATTCT	C	31686.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.49;DP=3384;ExcessHet=54.0936;FS=14.269;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.84;MQRankSum=-1.107e+01;QD=9.48;ReadPosRankSum=-6.730e-01;SOR=1.597	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,66:153:99:0|1:75737092_C_T:2509,0,3423:75737092	0	0	21	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A	.	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.041	B	0.015	B	.	.	1.000	N	0.2	N	2.5	T	-0.978	T	0.017	T	0.263	-0.128	3.371	0.509	0.160	-3.097	4.801	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2374.81	109	chr3	75737228	.	T	C	2374.81	.	AC=11;AF=0.262;AN=42;BaseQRankSum=1.77;DP=2347;ExcessHet=7.7275;FS=19.670;InbreedingCoeff=-0.3588;MLEAC=11;MLEAF=0.262;MQ=57.63;MQRankSum=-9.053e+00;QD=1.98;ReadPosRankSum=-1.729e+00;SOR=2.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,15:82:99:0|1:75737228_T_C:404,0,2720:75737228	10	0	11	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S	.	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.588	P	0.118	B	.	.	1.000	N	0.78	N	3.45	T	-0.962	T	0.011	T	0.402	2.344	13.80	0.281	0.088	6.618	6.406	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	84334.74	182	chr3	75737519	.	G	A	84334.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.22;DP=4534;ExcessHet=54.0936;FS=3.213;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.20;MQRankSum=-6.820e+00;QD=19.56;ReadPosRankSum=0.348;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,178:243:99:0|1:75737519_G_A:7083,0,2091:75737519	0	0	21	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T	.	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.011	B	0.007	B	.	.	1.000	N	-0.05	N	3.17	T	-0.913	T	0.010	T	0.467	-0.210	2.980	-2.35	-0.437	-5.897	5.111	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	93431.74	214	chr3	75737590	.	A	G	93431.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.450e-01;DP=4965;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.17;MQRankSum=-1.228e+01;QD=19.03;ReadPosRankSum=0.838;SOR=0.797	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,196:289:99:0|1:75737586_A_T:7950,0,3315:75737586	0	0	21	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R	.	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.003	B	0.003	B	.	.	1.000	N	-0.66	N	3.16	T	-0.950	T	0.008	T	0.327	0.845	8.413	-3.14	-1.861	-0.144	4.750	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	.	.	.	.	.	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	0.5	99264.74	227	chr3	75737608	.	T	C	99264.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.102;DP=5151;ExcessHet=54.0936;FS=0.516;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=52.90;MQRankSum=-1.341e+01;QD=19.33;ReadPosRankSum=0.322;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,212:309:99:0|1:75737586_A_T:8610,0,3435:75737586	0	0	21	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S	.	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.89	P	0.451	P	.	.	1.000	N	2.965	M	2.96	T	-1.054	T	0.045	T	0.468	1.519	11.03	0.405	0.127	-1.802	5.213	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	.	.	.	.	.	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	0.5	101560.74	248	chr3	75737622	.	T	A	101560.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.388e+00;DP=5296;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=53.40;MQRankSum=-1.311e+01;QD=19.29;ReadPosRankSum=-1.560e-01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,224:316:99:0|1:75737586_A_T:9129,0,3189:75737586	0	0	21	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C	.	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.994	D	0.387	B	.	.	1.000	N	1.355	L	5.42	T	-0.871	T	0.003	T	0.447	0.648	7.478	0.774	0.291	-3.025	2.500	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	.	.	.	.	.	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	0.5	104187.74	246	chr3	75737651	.	G	A	104187.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.82;DP=5303;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.27;MQRankSum=-1.184e+01;QD=19.78;ReadPosRankSum=-8.750e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,207:291:99:0|1:75737586_A_T:8439,0,2904:75737586	0	0	21	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X	.	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	6.220	37	1.71	1.073	0.059	3.984	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	99202.74	235	chr3	75737676	.	A	T	99202.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.21;DP=4967;ExcessHet=54.0936;FS=1.090;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.83;MQRankSum=-9.816e+00;QD=20.18;ReadPosRankSum=-1.028e+00;SOR=0.636	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,187:271:99:0|1:75737586_A_T:7599,0,2964:75737586	0	0	21	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K	.	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.87	P	0.559	P	.	.	1.000	N	1.11	L	3.2	T	-1.016	T	0.024	T	0.38	2.298	13.64	0.993	0.389	-0.570	6.443	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	.	.	.	.	.	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	0.475	53271.84	236	chr3	75737840	.	C	T	53271.84	.	AC=19;AF=0.475;AN=40;BaseQRankSum=-1.867e+00;DP=4970;ExcessHet=36.0830;FS=8.679;InbreedingCoeff=-0.8667;MLEAC=20;MLEAF=0.500;MQ=58.83;MQRankSum=-4.939e+00;QD=12.52;ReadPosRankSum=-2.000e-01;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,135:246:99:1|0:75737791_C_A:5303,0,2963:75737791	1	0	19	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R	.	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.035	B	0.038	B	.	.	1.000	N	4.015	H	-2.18	D	0.078	D	0.691	D	0.467	1.068	9.361	0.513	0.158	2.178	5.415	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	26024.74	185	chr3	75737881	.	T	C	26024.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.184e+00;DP=4449;ExcessHet=54.0936;FS=19.179;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.45;MQRankSum=-7.835e+00;QD=6.19;ReadPosRankSum=-4.722e+00;SOR=1.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,74:158:99:0|1:75737881_T_C:2546,0,3179:75737881	0	0	21	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19918.7	193	chr3	75737891	.	G	GAAAT	19918.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.779;DP=4144;ExcessHet=54.0936;FS=22.520;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.28;MQRankSum=-8.489e+00;QD=4.94;ReadPosRankSum=-4.220e+00;SOR=2.002	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,60:146:99:0|1:75737881_T_C:2175,0,3382:75737881	0	0	21	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del	.	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18824.7	191	chr3	75737893	.	A	ACTT	18824.7	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.081;DP=4075;ExcessHet=54.0936;FS=23.299;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.20;MQRankSum=-8.682e+00;QD=4.74;ReadPosRankSum=-3.534e+00;SOR=2.048	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,56:142:99:0|1:75737881_T_C:2071,0,3378:75737881	0	0	21	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4	.	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3726.99	218	chr3	75737947	.	CCT	C	3726.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.750e-01;DP=3538;ExcessHet=1.7912;FS=15.802;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=57.52;MQRankSum=-1.248e+01;QD=3.68;ReadPosRankSum=0.449;SOR=1.772	GT:AD:DP:GQ:PL	0/1:106,12:118:99:185,0,4366	15	0	6	0
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E	.	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.981	D	0.792	P	.	.	1.000	N	1.63	L	1.0	T	-1.005	T	0.128	T	0.5	0.800	8.209	0.059	0.039	0.285	5.008	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	5856.69	126	chr3	75739165	.	C	T	5856.69	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-8.800e-02;DP=2841;ExcessHet=36.0830;FS=16.853;InbreedingCoeff=-0.8321;MLEAC=19;MLEAF=0.452;MQ=57.03;MQRankSum=-7.844e+00;QD=2.33;ReadPosRankSum=-1.424e+00;SOR=1.267	GT:AD:DP:GQ:PL	0/1:88,30:118:99:534,0,2714	2	0	19	0
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K	.	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.588	P	0.118	B	.	.	1.000	N	0.805	L	0.91	T	-1.039	T	0.052	T	0.501	-1.711	0.011	-0.13	-0.008	-0.013	8.996	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	13994.74	75	chr3	75739283	.	G	T	13994.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.485e+00;DP=2154;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=54.74;MQRankSum=-4.923e+00;QD=6.68;ReadPosRankSum=0.840;SOR=0.744	GT:AD:DP:GQ:PL	0/1:48,42:90:99:935,0,1278	0	0	21	0
chr3	86968949	86968949	T	A	exonic	VGLL3	.	nonsynonymous SNV	VGLL3:NM_001320493:exon3:c.A578T:p.H193L	.	.	402	1099	21	0	0	21	0.00946372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.41	B	0.071	B	0.000	D	1.000	D	2.215	M	0.88	T	-0.883	T	0.110	T	0.887	4.360	23.0	5.81	2.224	4.314	15.816	0.222	.	0.0081	0.00379393	0.0074	0.0032	0.0036	0	0.0107	0.0098	0.0067	0.0054	0.007115	1100	154602	rs79345443	0.0098	0.0098	0.0100	0.0097	0.0113	0.0097	0.0096	0.0109	0.0108	0.0021	0.0049	0.0054	5.038e-05	0.0106	0.0113	0.0111	0.0086	0.0058	0.0074	0.0074	0.0073	0.0074	0.0108	0.0070	0.0069	0.0102	0.0099	0.0020	0.0164	0.0056	0.0052	0.0002	0.0116	0.0306	0.0108	0.0099	0.0058	0.004	0.68238	D	0.359	0.23164	T	0.41	0.35064	B	0.071	0.27960	B	0.000429	0.44522	D	0.154637	0.999985	0.54805	D	2.425	0.70256	M	0.88	0.47815	T	-4.36	0.76980	D	0.511	0.54234	-0.8835	0.49480	T	0.110	0.39699	T	10	0.008695096	0.00197	T	.	.	.	0.222	0.51872	.	.	0.276065633971	0.27208	0.5476830193202381	0.54694	0.400510994764	0.41053	0.588839530945	0.51330	T	0.154338	0.49559	T	-0.118266	0.33408	T	0.0653047	0.74597	D	0.0378037034534093	0.03297	T	0.849215	0.53152	T	0.3485719	0.56956	0.3174082	0.57715	0.3485719	0.56956	0.3174082	0.57715	-2.864	0.08788	T	.	.	0.117	0.27433	B	.;.	.;.	3.321003	0.45673	22.2	0.97824064956744039	0.36213	0.97110	0.72748	D	AEFBI	0.616044	0.60276	D	0.240166363538059	0.53154	3.485651	0.351726897792337	0.58611	4.032735	0.999999999999794	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.644132	0.48003	0	0.714379	0.83352	0	.	.	5.81	5.81	0.92413	2.870000	0.48150	5.137000	0.47688	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	15.816	0.78379	606	0.67383	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3720.68	34	chr3	86968949	.	T	A	3720.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.67;DP=910;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=0.313;SOR=0.714	GT:AD:DP:GQ:PL	0/1:46,49:95:99:1296,0,1137	18	0	3	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.217	B	0.064	B	0.130	N	1.000	N	0.69	N	2.23	T	-0.991	T	0.069	T	0.165	-0.071	3.653	-1.84	-0.269	-0.189	9.015	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4048	2827.45	43	chr3	100775333	.	T	C	2827.45	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-7.940e-01;DP=858;ExcessHet=25.1139;FS=205.111;InbreedingCoeff=-0.6641;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.20;ReadPosRankSum=0.283;SOR=11.182	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,10:35:99:0|1:100775333_T_C:107,0,476:100775333	4	0	17	0
chr3	113468234	113468234	G	A	exonic	SPICE1	.	nonsynonymous SNV	SPICE1:NM_001331078:exon10:c.C1060T:p.R354C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.534	P	0.097	B	0.000	D	1.000	D	2.24	M	1.27	T	-0.939	T	0.106	T	0.736	3.712	18.85	5.01	1.495	6.774	15.191	0.314	0.0466770725869	7.7e-05	.	1.651e-05	0	0	0	0	3.005e-05	0	0	1.29e-05	2	154602	rs369719870	4.515e-05	4.515e-05	4.764e-05	4.263e-05	5.486e-05	3.641e-05	3.322e-05	4.351e-05	3.944e-05	0	2.236e-05	0	0	0	0	5.486e-05	3.312e-05	2.319e-05	2.63e-05	2.627e-05	2.57e-05	2.692e-05	5.88e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.88e-05	0	0	0.002	0.72154	D	0.001	0.83351	D	0.534	0.37787	P	0.097	0.30390	B	0.000351	0.45440	D	0.240541	0.999871	0.50225	D	2.765	0.80766	M	1.27	0.36146	T	-5.06	0.82764	D	0.776	0.77319	-0.9394	0.42711	T	0.106	0.38709	T	10	0.7804391	0.77808	D	0.046677	0.62568	D	0.314	0.63588	.	.	0.531245695338	0.52774	0.1304085703427057	0.12965	0.485784900578	0.47451	0.555429160595	0.46622	T	0.17396	0.52301	T	0.00187995	0.51914	T	-0.104625	0.63038	T	0.907154381275177	0.56136	D	0.929807	0.74042	D	0.27684033	0.50744	0.3239535	0.58323	0.27684033	0.50744	0.3239535	0.58323	-5.283	0.39774	T	.	.	0.3	0.52985	B	.	.	4.637521	0.73792	26.0	0.9992936386811534	0.99279	0.96213	0.68055	D	AEFGBI	0.654615	0.62724	D	0.148173529479606	0.48725	3.081322	0.177944931577063	0.48642	3.077287	0.999897413661158	0.45129	0.706298	0.61202	0	0.585951	0.33947	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.88	5.01	0.66477	6.332000	0.72889	9.951000	0.82728	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.258000	0.23468	0.0675:0.0:0.9325:0.0	15.191	0.72732	202	0.92131	.	.	.	.	.	.	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	0.02381	2033.98	33	chr3	113468234	.	G	A	2033.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=866;ExcessHet=0.0000;FS=2.797;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-6.230e-01;SOR=0.477	GT:AD:DP:GQ:PL	0/1:81,81:162:99:2048,0,1963	20	0	1	0
chr3	113657270	113657272	TGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4412del:p.Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,55,0,0,0,0:55:99:2372,167,0,2372,167,2372,2372,167,2372,2372,2372,167,2372,2372,2372,2372,167,2372,2372,2372,2372	0	4	0	0
chr3	113657267	113657272	TGCTGC	-	exonic	USF3	.	nonframeshift deletion	USF3:NM_001009899:exon7:c.4410_4415del:p.Q1477_Q1478del,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,55,0,0,0,0:55:99:2372,167,0,2372,167,2372,2372,167,2372,2372,2372,167,2372,2372,2372,2372,167,2372,2372,2372,2372	0	4	0	0
chr3	113657272	113657272	-	TGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCA:p.Q1478_A1479insQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,55,0,0,0,0:55:99:2372,167,0,2372,167,2372,2372,167,2372,2372,2372,167,2372,2372,2372,2372,167,2372,2372,2372,2372	0	4	0	0
chr3	113657272	113657272	-	TGCTGC	exonic	USF3	.	nonframeshift insertion	USF3:NM_001009899:exon7:c.4409_4410insGCAGCA:p.Q1478_A1479insQQ,	.	.	0	5	9	26	186	247	0.859155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	51424.2	60	chr3	113657263	.	TTGCTGCTGC	TTGCTGC,T,TTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGC	51424.2	.	AC=19,11,2,7,1;AF=0.452,0.262,0.048,0.167,0.024;AN=42;BaseQRankSum=-8.100e-02;DP=1923;ExcessHet=0.1072;FS=1.248;InbreedingCoeff=-0.0500;MLEAC=19,11,2,7,1;MLEAF=0.452,0.262,0.048,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=1.12;SOR=0.564	GT:AD:DP:GQ:PL	1/1:0,55,0,0,0,0:55:99:2372,167,0,2372,167,2372,2372,167,2372,2372,2372,167,2372,2372,2372,2372,167,2372,2372,2372,2372	0	4	0	0
chr3	114035126	114035126	C	T	exonic	CCDC191	.	nonsynonymous SNV	CCDC191:NM_001353767:exon4:c.G551A:p.R184H	.	.	439	1077	5	1	0	7	0.00323924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	0.999	D	0.000	D	1.000	D	1.78	L	0.61	T	-0.382	T	0.359	T	0.257	3.605	18.35	4.47	1.492	1.470	11.101	0.151	.	.	0.00319489	0.0020	0	0.0003	0	0	3.004e-05	0.0022	0.0139	0.0016688	258	154602	rs577503930	0.0010	0.0010	0.0006	0.0015	0.0148	0.0010	0.0010	0.0142	0.0139	3.001e-05	0.0004	0	2.519e-05	1.875e-05	0.0003	0.0002	0.0009	0.0148	0.0005	0.0005	0.0003	0.0007	0.0135	0.0004	0.0004	0.0109	0.0099	4.817e-05	0	0.0002	0	0	0	0	1.47e-05	0.0005	0.0135	0.108	0.33418	T	0.165	0.92824	T	0.76	0.43524	P	0.147	0.34014	B	0.000006	0.62929	D	0.060034	0.505077	0.35478	D	.	.	.	0.61	0.62762	T	-3.04	0.71042	D	0.236	0.26596	-0.3820	0.72589	T	0.359	0.72085	T	10	0.0050017536	0.00108	T	.	.	.	0.151	0.39764	.	.	0.594705806306	0.59149	0.28059431543265023	0.27972	0.889541350109	0.70159	0.372478812933	0.21187	T	0.035984	0.57970	T	-0.406627	0.02094	T	-0.344544	0.39829	T	0.0548650093897772	0.06334	T	0.80392	0.51127	T	0.14052325	0.32418	0.08713384	0.20234	0.14052325	0.32418	0.08713384	0.20234	-5.511	0.41971	T	.	.	0.147	0.48725	B	.;.;.	.;.;.	4.118081	0.61526	24.3	0.99937880520891087	0.99698	0.86359	0.45624	D	AEFBCI	0.168517	0.29528	N	0.212000371922998	0.51781	3.356661	0.239941950307843	0.52078	3.385269	0.999990669004541	0.74766	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.35	4.47	0.53770	1.508000	0.35376	0.810000	0.21743	0.549000	0.26987	0.956000	0.33378	0.360000	0.24516	0.903000	0.43903	0.0:0.8396:0.0:0.1604	11.101	0.47397	663	0.61610	.;.;.	.	.	.	.	.	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	0.02381	1182.98	44	chr3	114035126	.	C	T	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=826;ExcessHet=0.0000;FS=1.921;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.43;ReadPosRankSum=0.394;SOR=1.008	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1197,0,989	20	0	1	0
chr3	115676196	115676196	G	C	exonic	GAP43	.	nonsynonymous SNV	GAP43:NM_002045:exon2:c.G214C:p.A72P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.771	P	0.383	B	0.026	N	1.000	N	1.61	L	0.81	T	-0.975	T	0.114	T	0.339	1.198	9.869	3.74	1.291	2.358	6.183	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	108.87	93	chr3	115676196	.	G	C	108.87	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.165e+00;DP=1834;ExcessHet=1.1607;FS=178.066;InbreedingCoeff=-0.1514;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.572;SOR=11.555	GT:AD:DP:GQ:PL	0/1:53,24:79:56:56,0,1048	15	0	5	1
chr3	119732348	119732348	G	A	exonic	CFAP91	.	nonsynonymous SNV	CFAP91:NM_001320318:exon7:c.G695A:p.R232K	.	.	430	1090	2	0	0	2	0.00091659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	1.0	D	0.997	D	0.000	D	1.000	D	2.045	M	1.68	T	-0.984	T	0.167	T	0.427	4.682	25.9	5.66	2.653	5.530	19.763	0.178	0.0129481130888	.	.	0.0003	0	8.658e-05	0	0.0006	0.0003	0.0011	0.0006	0.0002329	36	154602	rs201212862	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	2.253e-05	0.0026	0	0.0003	0.0005	5.492e-05	0.0002	0.0006	0.0001	0.0001	8.993e-05	0.0001	8.819e-05	7.091e-05	5.748e-05	3.761e-05	2.575e-05	0	0	6.549e-05	0.0020	0	9.418e-05	0	8.819e-05	0.0010	0	0.022	0.48642	D	0.085	0.41074	T	.	.	.	.	.	.	0.000187	0.48115	D	0.174416	0.998647	0.45212	D	.	.	.	1.68	0.27184	T	-2.66	0.56945	D	0.614	0.63035	-0.9842	0.34022	T	0.167	0.50648	T	10	0.051376402	0.05011	T	0.012948	0.31963	T	0.178	0.44724	.	.	0.598062005445	0.59486	0.49077846087923155	0.48997	0.536921396512	0.51012	0.488486588001	0.37228	T	.	.	.	-0.322529	0.06693	T	-0.339156	0.40440	T	0.166420715266845	0.18333	T	0.782022	0.41734	T	0.47644678	0.65684	0.39524806	0.64197	0.47644678	0.65685	0.39524806	0.64197	-3.052	0.10752	T	0.5114308956325749	0.58513	0.187	0.40360	B	.;.	.;.	4.758050	0.76898	26.6	0.99666727195956417	0.78330	0.87369	0.46887	D	AEFBCI	0.790286	0.71922	D	0.710040071274449	0.80290	7.26183	0.709941997530029	0.83132	7.942566	0.999999986550607	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.648885	0.59868	0	.	.	5.66	5.66	0.87293	6.978000	0.75927	11.755000	0.95496	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.763	0.96324	630	0.65016	.;.	.	.	.	.	.	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	0.02381	263.98	33	chr3	119732348	.	G	A	263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.62;ReadPosRankSum=1.11;SOR=0.776	GT:AD:DP:GQ:PL	0/1:33,14:47:99:278,0,725	20	0	1	0
chr3	123304083	123304083	G	A	exonic	ADCY5	.	nonsynonymous SNV	ADCY5:NM_001199642:exon13:c.C1493T:p.A498V	Dyskinesia, familial, with facial myokymia, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.07	B	0.007	B	0.000	D	0.877	D	-0.55	N	0.73	T	-1.040	T	0.057	T	0.379	3.038	16.14	4.57	2.359	9.649	17.547	0.164	0.00733141178599	7.7e-05	.	2.48e-05	0	8.673e-05	0	0	1.504e-05	0	6.075e-05	1.94e-05	3	154602	rs150642009	1.027e-05	1.026e-05	2.725e-06	1.789e-05	0.0003	6.17e-06	4.89e-06	6.098e-05	2.523e-05	5.976e-05	0	0	0	0	0.0003	6.3e-06	0	4.639e-05	3.292e-05	3.284e-05	5.145e-05	1.348e-05	7.258e-05	1.263e-05	7.99e-06	1.924e-05	1.033e-05	7.258e-05	0	6.555e-05	0	0	0	0	0	0.0005	0	0.259	0.28395	T	0.724	0.06071	T	0.07	0.23866	B	0.007	0.12992	B	0.000120	0.50451	D	0.083086	0.876674	0.35668	D	0.695	0.17993	N	0.73	0.50721	T	-1.45	0.35597	N	0.422	0.47395	-1.0400	0.17313	T	0.057	0.24018	T	10	0.21972695	0.38651	T	0.007331	0.19442	T	0.164	0.42212	.	.	0.422182357427	0.41838	0.7550039325943116	0.75447	0.402954233708	0.41245	0.472196340561	0.34982	T	0.443679	0.78737	T	-0.132082	0.31160	T	-0.330649	0.41398	T	0.511712074279785	0.33061	D	0.880812	0.66782	D	0.13029046	0.30405	0.13843083	0.33060	0.13029046	0.30405	0.13843083	0.33059	-10.477	0.78185	D	0.13523892028924145	0.14680	0.439	0.63057	A	.;.;.;.	.;.;.;.	4.706152	0.75561	26.4	0.99262555123546026	0.57255	0.99478	0.96523	D	AEFBI	0.948136	0.95943	D	-0.167204400031068	0.34505	1.970318	0.0796551720714635	0.43527	2.652615	0.999999807192064	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	9.995000	0.99281	11.584000	0.93361	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.676000	0.33425	0.0:0.0:1.0:0.0	17.547	0.87761	624	0.65661	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2624.98	37	chr3	123304083	.	G	A	2624.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.565;DP=947;ExcessHet=0.0000;FS=10.121;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=0.680;SOR=0.748	GT:AD:DP:GQ:PL	0/1:101,105:206:99:2639,0,2448	20	0	1	0
chr3	124666624	124666624	G	C	exonic	KALRN	.	nonsynonymous SNV	KALRN:NM_001322998:exon12:c.G1331C:p.R444T	.	.	430	1082	10	0	0	10	0.00459982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.554	P	0.145	B	0.000	D	1.000	N	0.945	L	2.81	T	-0.992	T	0.018	T	0.408	1.412	10.66	2.33	0.333	1.320	9.861	0.077	0.00894769938932	7.7e-05	.	0.0004	0	0	0	0	0.0003	0	0.0013	0.0003363	52	154602	rs377746113	0.0002	0.0002	0.0002	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	2.988e-05	0	0.0001	0	0	0.0033	0.0001	0.0007	0.0014	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0005	0.0004	0	0	6.536e-05	0.0003	0	0	0.0034	0.0002	0.0019	0.0012	0.679	0.12511	T	0.35	0.38160	T	.	.	.	.	.	.	0.000119	0.50451	D	0.174460	0.988711	0.27154	N	.	.	.	2.81	0.10975	T	-0.97	0.54382	N	0.669	0.67736	-0.9920	0.32089	T	0.018	0.07329	T	10	0.053860247	0.05645	T	0.008948	0.23583	T	0.077	0.22490	.	.	0.399796912067	0.39594	.	.	.	.	0.513563036919	0.40721	T	0.008039	0.07400	T	-0.481088	0.00729	T	-0.523018	0.19990	T	0.0252927274991955	0.01311	T	0.952005	0.81652	D	.	.	.	.	.	.	.	.	-12.614	0.87712	D	.	.	0.659	0.81914	P	.;.	.;.	2.224631	0.28394	17.78	0.91391076135985883	0.20657	0.93012	0.57104	D	AEFBI	0.626106	0.60905	D	-0.333027978041312	0.27900	1.534514	-0.212025618532037	0.31101	1.757152	0.188877287282486	0.17973	0.581397	0.33459	0	0.588015	0.36545	0	0.565031	0.19037	0	0.620846	0.47308	0	.	.	5.04	2.33	0.27981	1.170000	0.31493	1.087000	0.23945	-0.123000	0.13640	1.000000	0.71638	0.999000	0.35428	0.985000	0.61073	0.2844:0.0:0.7156:0.0	9.861	0.40283	851	0.35303	Pleckstrin homology domain|Pleckstrin homology domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1171.98	34	chr3	124666624	.	G	C	1171.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.497e+00;DP=825;ExcessHet=0.0000;FS=0.653;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.09;ReadPosRankSum=0.929;SOR=0.625	GT:AD:DP:GQ:PL	0/1:74,55:129:99:1186,0,1967	20	0	1	0
chr3	126436313	126436313	G	A	exonic	CFAP100	.	nonsynonymous SNV	CFAP100:NM_182628:exon17:c.G1745A:p.R582H,	.	.	426	1095	1	0	0	1	0.000456413	.	.	2437737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	2.56	M	-0.68	T	0.162	D	0.525	D	0.832	2.833	15.44	3.94	2.193	6.423	13.852	0.561	0.245155261979	0.0002	.	5.058e-05	0	0	0	0	3.055e-05	0	0.0002	3.88e-05	6	154602	rs147792825	2.942e-05	2.942e-05	1.498e-05	4.401e-05	0.0003	2.217e-05	1.97e-05	0.0002	0.0002	2.988e-05	6.711e-05	3.827e-05	0	0	0.0002	4.497e-06	4.97e-05	0.0003	3.287e-05	3.284e-05	2.57e-05	4.037e-05	0.0002	1.261e-05	7.98e-06	1.171e-05	6.25e-06	0	0	0	0	0.0002	0	0	4.411e-05	0	0.0002	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.974	0.77976	D	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	.	.	.	-0.68	0.72994	T	-4.29	0.76414	D	0.839	0.83473	0.162	0.85266	D	0.525	0.82326	D	10	0.8658005	0.85823	D	0.245155	0.88874	D	0.561	0.82003	.	.	0.764403687969	0.76225	0.2606307772760194	0.25977	0.551235762849	0.51968	0.439786612988	0.30548	T	0.250195	0.62026	T	0.0412139	0.57204	T	0.131943	0.79019	D	0.948201656341553	0.62845	D	0.871513	0.57764	D	0.39845356	0.60625	0.2505835	0.50652	0.39845356	0.60626	0.2505835	0.50651	-8.334	0.63605	D	.	.	0.192	0.41094	B	.;.	.;.	4.720012	0.75909	26.4	0.998837771444815	0.95970	0.96230	0.68134	D	AEFBI	0.798071	0.72472	D	0.53953227357748	0.69446	5.358185	0.399331601595287	0.61523	4.353659	0.999962634805242	0.48965	0.522611	0.21652	0	0.54472	0.11627	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.94	3.94	0.44807	6.472000	0.73482	9.720000	0.81362	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:1.0:0.0	13.852	0.63001	854	0.34840	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1501.98	34	chr3	126436313	.	G	A	1501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.970e-01;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.65;ReadPosRankSum=0.579;SOR=0.659	GT:AD:DP:GQ:PL	0/1:48,62:110:99:1516,0,1110	20	0	1	0
chr3	126496060	126496060	C	T	exonic	UROC1	.	nonsynonymous SNV	UROC1:NM_144639:exon15:c.G1487A:p.R496Q	.	.	0	1520	2	0	0	2	0.000657462	.	.	708524	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.15	T	0.126	B	0.028	B	0.000	N	1.000	D	1.225	L	0.95	T	-1.107	T	0.026	T	0.082	2.531	14.42	-1.46	-0.148	0.122	9.14	0.031	.	0.0108	0.0103834	0.0032	0.0354	0.0012	0.0001	0	4.819e-05	0	0.0011	0.002859	442	154602	rs75603988	0.0010	0.0010	0.0011	0.0009	0.0327	0.0009	0.0009	0.0310	0.0304	0.0327	0.0012	0	5.038e-05	0	0.0007	4.497e-05	0.0020	0.0011	0.0088	0.0089	0.0093	0.0084	0.0309	0.0085	0.0083	0.0295	0.0289	0.0309	0	0.0027	0	0	0	0	0.0001	0.0061	0.0004	0.119	0.28026	T	0.143	0.33780	T	0.003	0.11197	B	0.015	0.17295	B	0.000175	0.48594	N	0.178179	0.999881	0.50402	D	1.29	0.32370	L	0.95	0.43279	T	-0.83	0.34596	N	0.367	0.44857	-1.1067	0.03369	T	0.026	0.11087	T	10	0.0048895776	0.00104	T	.	.	.	0.031	0.07369	.	.	0.354610295913	0.35065	0.5314609886010813	0.53071	0.0834057925702	0.09409	0.217876136303	0.01191	T	0.034955	0.23529	T	-0.645563	0.00077	T	-0.675708	0.07248	T	0.0300500352879831	0.01997	T	0.89651	0.63872	D	0.0485886	0.08493	0.067132354	0.13846	0.043108262	0.06659	0.07351164	0.15982	-3.734	0.19821	T	0.10924386755119432	0.09098	0.076	0.08081	B	.;.	.;.	1.245685	0.16417	12.53	0.98130094394852463	0.38514	0.17583	0.19900	N	AEFBI	0.163524	0.28981	N	-0.879350919736541	0.11335	0.5464555	-0.851250136463165	0.13258	0.6867532	0.997407823595757	0.35583	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.39	-1.46	0.08338	0.205000	0.17154	-1.578000	0.05132	-1.013000	0.01759	0.007000	0.17678	0.000000	0.08366	0.213000	0.22268	0.0:0.4868:0.0:0.5132	9.14	0.36058	845	0.36510	Urocanase, C-terminal domain;.	.	.	.	.	.	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	0.02381	1076.98	34	chr3	126496060	.	C	T	1076.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.62;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=-1.420e-01;SOR=0.705	GT:AD:DP:GQ:PL	0/1:59,43:102:99:1091,0,1289	20	0	1	0
chr3	126988711	126988711	C	G	exonic	PLXNA1	.	nonsynonymous SNV	PLXNA1:NM_032242:exon1:c.C118G:p.P40A,	.	.	420	1098	4	0	0	4	0.00181818	.	.	3207030	PLXNA1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.25	T	0.0	B	0.0	B	0.600	N	1.000	N	1.905	M	3.04	T	-0.961	T	0.025	T	0.077	-1.702	0.011	-4.4	-0.770	0.796	3.927	0.055	0.00428102546057	0.0002	0.00139776	0.0008	0.0001	8.843e-05	0	0	0	0	0.0082	0.0007697	119	154602	rs372314843	0.0004	0.0004	0.0002	0.0006	0.0073	0.0004	0.0004	0.0068	0.0066	0	0	0	0	0	0.0007	3.673e-06	0.0004	0.0073	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	7.217e-05	0	0	0	0	0	0	0	0	0.0070	0.303	0.14352	T	0.403	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	0.599590	0.05638	N	1.299200	1	0.08975	N	1.905	0.50856	L	2.99	0.09262	T	-0.61	0.18042	N	0.071	0.04426	-0.9607	0.39050	T	0.025	0.10733	T	10	0.0051888525	0.00113	T	0.004281	0.10373	T	0.055	0.15663	.	.	0.138757226776	0.13463	0.38034052077590524	0.37949	0.409882801041	0.41793	0.37333458662	0.21309	T	0.16068	0.50462	T	-0.679731	0.00048	T	-0.746274	0.03633	T	0.0264546568078447	0.01468	T	0.214479	0.02649	T	0.017260943	0.00258	0.019887466	0.00108	0.017260943	0.00258	0.019887466	0.00108	-2.929	0.09436	T	.	.	0.050	0.00136	B	.	.	-0.756008	0.01197	0.059	0.42526470373872266	0.03141	0.07777	0.13775	N	AEFBCI	0.041360	0.06278	N	-1.10121637534329	0.06622	0.3053551	-1.2325817681478	0.05394	0.256904	0.999954829086511	0.48110	0.718356	0.82227	0	0.708844	0.79440	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	3.56	-4.4	0.03349	-0.074000	0.11410	-1.499000	0.05301	-0.305000	0.06155	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2224:0.4526:0.2342:0.0908	3.927	0.08767	946	0.12043	Sema domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1842.98	37	chr3	126988711	.	C	G	1842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.325e+00;DP=925;ExcessHet=0.0000;FS=0.706;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.63;ReadPosRankSum=0.085;SOR=0.789	GT:AD:DP:GQ:PL	0/1:51,75:126:99:1857,0,1298	20	0	1	0
chr3	128055734	128055734	T	C	exonic	SEC61A1	.	nonsynonymous SNV	SEC61A1:NM_013336:exon4:c.T203C:p.I68T,	Hyperuricemic nephropathy, familial juvenile, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.813	P	0.991	D	0.000	D	1.000	D	3.135	M	.	.	0.283	D	0.586	D	0.853	4.605	25.1	5.96	2.285	8.040	16.434	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	1753.27	33	chr3	128055734	.	T	C	1753.27	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-2.562e+00;DP=1413;ExcessHet=14.4320;FS=89.774;InbreedingCoeff=-0.4973;MLEAC=14;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=1.78;ReadPosRankSum=0.471;SOR=10.616	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,21:64:99:0|1:128055734_T_C:271,0,1061:128055734	7	0	14	0
chr3	129560431	129560431	G	T	exonic	PLXND1	.	nonsynonymous SNV	PLXND1:NM_015103:exon31:c.C5032A:p.L1678M,	.	.	409	1105	8	0	0	8	0.00360685	.	.	720149	PLXND1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.977	D	0.000	D	1.000	D	1.735	L	2.7	T	-1.127	T	0.077	T	0.364	2.721	15.06	3.94	0.975	3.529	12.263	0.082	.	.	0.00199681	0.0015	0	0	0	0	8.035e-05	0	0.0103	0.0012031	186	154602	rs200252007	0.0006	0.0006	0.0004	0.0009	0.0094	0.0006	0.0006	0.0089	0.0087	2.995e-05	0	0	2.521e-05	0	0.0021	2.797e-05	0.0007	0.0094	0.0002	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	6.532e-05	0	0	0	0	2.94e-05	0	0.0070	0.173	0.22573	T	0.171	0.30339	T	0.998	0.73220	D	0.977	0.73820	D	0.000402	0.44736	D	0.090405	0.99973	0.48635	D	1.445	0.36358	L	2.7	0.12162	T	-0.23	0.10656	N	0.53	0.55886	-1.1273	0.01916	T	0.077	0.30676	T	10	0.015358686	0.00322	T	.	.	.	0.109	0.30843	0.404	0.43573	0.403154071476	0.39927	0.23408618568868378	0.23323	1.59034253558	0.88517	0.57325220108	0.49137	T	0.135491	0.46734	T	-0.482775	0.00713	T	-0.458287	0.26785	T	0.0586171622835817	0.06948	T	0.830517	0.49623	T	0.10721294	0.25350	0.081668586	0.18579	0.10721294	0.25350	0.081668586	0.18579	-5.925	0.45647	T	.	.	0.104	0.18910	B	.	.	3.790264	0.54550	23.5	0.99334023082782341	0.59895	0.97888	0.77885	D	AEFDBI	0.739431	0.68399	D	0.240604195838506	0.53176	3.487708	0.186416695521506	0.49101	3.117522	0.999999694555698	0.74766	0.722319	0.85440	0	0.547309	0.14657	0	0.723109	0.80598	0	0.735409	0.98432	0	.	.	4.85	3.94	0.44807	3.460000	0.52793	3.992000	0.40997	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.264000	0.23619	0.0862:0.0:0.9138:0.0	12.263	0.53977	517	0.74620	Plexin, cytoplasmic RasGAP 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	0.02381	456.98	32	chr3	129560431	.	G	T	456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.43;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=-1.143e+00;SOR=0.653	GT:AD:DP:GQ:PL	0/1:23,18:41:99:471,0,535	20	0	1	0
chr3	130379796	130379796	C	T	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon4:c.C1046T:p.P349L	.	.	428	1044	47	3	0	53	0.0247548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.696	P	0.283	B	.	.	1.000	N	1.79	L	-1.69	D	-0.446	T	0.458	T	0.173	2.298	13.64	5.34	2.503	1.076	12.876	0.228	.	.	0.00199681	0.0131	0.0005	0.0049	0	0	0.0039	0.0158	0.0279	0.0021539	333	154602	rs142949552	0.0030	0.0028	0.0023	0.0037	0.0240	0.0029	0.0029	0.0231	0.0227	0.0006	0.0015	0.0040	5.597e-05	0.0002	0.0226	0.0016	0.0043	0.0240	0.0021	0.0021	0.0019	0.0024	0.0204	0.0019	0.0019	0.0171	0.0159	0.0004	0	0.0015	0.0063	0	0.0005	0.0170	0.0021	0.0047	0.0204	0.017	0.51248	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.69	0.82985	D	-3.96	0.73579	D	0.058	0.02964	-0.4461	0.70529	T	0.458	0.78901	T	9	0.005708158	0.00127	T	.	.	.	0.228	0.52768	.	.	.	.	0.41726518107133853	0.41642	0.188780204204	0.21197	0.303890168667	0.10984	T	0.18915	0.54328	T	-0.378357	0.03190	T	-0.297336	0.45005	T	0.0376475582209328	0.03269	T	0.787421	0.42665	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26545	B	.	.	2.481712	0.32005	18.91	0.99593865867800668	0.73748	0.12434	0.17266	N	AEFDBI	0.155089	0.28022	N	-0.088144379818127	0.37910	2.212591	-0.0915332530468588	0.35738	2.071255	0.999450908489858	0.39788	0.742599	0.98188	0	0.588764	0.42986	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.34	5.34	0.75982	0.554000	0.23113	4.837000	0.45250	0.599000	0.40250	0.000000	0.06391	0.542000	0.25421	0.150000	0.20306	0.163:0.8369:0.0:0.0	12.876	0.57381	402	0.82617	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	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	0.09524	8044.92	39	chr3	130379796	.	C	T	8044.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.680e+00;DP=1213;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-7.440e-01;SOR=0.692	GT:AD:DP:GQ:PL	0/1:69,75:144:99:2061,0,1928	17	0	4	0
chr3	130421335	130421335	G	A	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012A:p.G1671E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	.	.	0.724	D	2.525	M	-6.28	D	1.094	D	0.984	D	0.964	2.130	13.08	5.29	2.648	4.837	14.806	0.794	0.167130559847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.723514	0.33642	D	.	.	.	-6.28	0.99614	D	-5.87	0.88630	D	0.94	0.94668	1.094	0.99395	D	0.984	0.99521	D	9	0.985523	0.98809	D	0.167131	0.84557	D	0.794	0.93227	0.951	0.99428	0.644124591191	0.64118	0.9735298133118696	0.97341	0.262336419958	0.28795	0.683480918407	0.64769	T	0.416298	0.76929	T	0.521063	0.94919	D	0.510694	0.94844	D	0.997076034545898	0.90711	D	0.920008	0.71084	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.79050	P	.	.	5.173918	0.86733	29.0	0.99152888611040157	0.53875	0.94007	0.59833	D	AEFBI	0.669031	0.63661	D	0.704442869841399	0.79923	7.181635	0.635508156860711	0.77535	6.698256	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,11,0:42:99:0|1:130421335_G_C:182,274,1194,0,920,888,274,1194,920,1194:130421335	0	0	4	6
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	.	.	0.511	D	2.525	M	-6.27	D	1.074	D	0.984	D	0.872	2.027	12.73	5.29	2.648	4.837	14.806	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,11,0:42:99:0|1:130421335_G_C:182,274,1194,0,920,888,274,1194,920,1194:130421335	0	0	4	6
chr3	130421335	130421335	G	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5242.03	42	chr3	130421335	.	G	A,C,*	5242.03	.	AC=4,10,1;AF=0.133,0.333,0.033;AN=30;BaseQRankSum=-1.383e+00;DP=1214;ExcessHet=18.9861;FS=227.116;InbreedingCoeff=-0.7500;MLEAC=5,12,1;MLEAF=0.167,0.400,0.033;MQ=60.00;MQRankSum=0.00;QD=5.72;ReadPosRankSum=0.500;SOR=11.284	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,0,11,0:42:99:0|1:130421335_G_C:182,274,1194,0,920,888,274,1194,920,1194:130421335	0	0	4	6
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.916	P	0.583	P	.	.	0.994	N	2.525	M	-3.16	D	-0.023	T	0.759	D	0.237	2.052	12.82	1.49	0.394	1.106	3.899	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,11,0:42:99:0|1:130421335_G_C:182,0,888,274,920,1194:130421335	0	0	14	6
chr3	130421337	130421337	T	0	exonic	COL6A5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5430.93	51	chr3	130421337	.	T	C,*	5430.93	.	AC=14,1;AF=0.467,0.033;AN=30;BaseQRankSum=0.613;DP=1245;ExcessHet=17.4423;FS=223.593;InbreedingCoeff=-0.7500;MLEAC=17,1;MLEAF=0.567,0.033;MQ=60.00;MQRankSum=0.00;QD=5.88;ReadPosRankSum=0.198;SOR=11.312	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,11,0:42:99:0|1:130421335_G_C:182,0,888,274,920,1194:130421335	0	0	14	6
chr3	130661991	130661991	G	A	exonic	COL6A6	.	nonsynonymous SNV	COL6A6:NM_001102608:exon34:c.G6185A:p.G2062D,	.	.	427	1094	1	0	0	1	0.00045683	.	.	2284897	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	1.0	D	1.0	D	.	.	0.932	D	2.725	M	-2.03	D	0.721	D	0.756	D	0.651	3.417	17.55	5.17	1.571	4.340	11.924	0.644	0.047430954349	8.3e-05	.	8.286e-05	0	0	0	0	7.494e-05	0	0.0003	6.47e-05	10	154602	rs372431409	4.994e-05	4.994e-05	4.492e-05	5.501e-05	0.0010	4.059e-05	3.734e-05	0.0005	0.0003	0	0	0.0001	0	0	0.0010	2.428e-05	9.938e-05	0.0004	5.257e-05	5.254e-05	6.425e-05	4.035e-05	0.0004	2.557e-05	1.83e-05	7.29e-05	3.029e-05	2.414e-05	0	0	0	0	9.429e-05	0	5.88e-05	0	0.0004	0.001	0.78490	D	0.0	0.92824	D	0.998	0.73220	D	0.986	0.76916	D	.	.	.	.	0.931995	0.37007	D	3.155	0.88459	M	-2.03	0.85613	D	-5.95	0.89152	D	0.913	0.91505	0.721	0.93438	D	0.756	0.91675	D	9	0.9451467	0.93839	D	0.047431	0.62920	D	0.644	0.86485	.	.	0.665750352487	0.66293	0.5739850754486059	0.57327	0.409156735794	0.41733	0.550466656685	0.45923	T	0.447486	0.78973	T	-0.0188773	0.49012	T	0.0396552	0.72905	D	0.824996829032898	0.48146	D	0.941906	0.78301	D	0.7146814	0.78866	0.7352693	0.84354	0.7146814	0.78867	0.7352693	0.84355	-12.831	0.88654	D	.	.	0.916	0.83930	P	.	.	4.695326	0.75284	26.3	0.99725833786828255	0.82406	0.87275	0.46765	D	AEFBI	0.498742	0.53272	N	0.5554910787063	0.70419	5.498476	0.455725821692303	0.65087	4.779376	0.462217057372942	0.20634	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	6.04	5.17	0.70848	4.711000	0.61570	11.820000	0.97208	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.163000	0.20749	0.0679:0.13:0.8021:0.0	11.924	0.52089	448	0.79501	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2582.98	33	chr3	130661991	.	G	A	2582.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.326;DP=892;ExcessHet=0.0000;FS=1.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.421;SOR=0.757	GT:AD:DP:GQ:PL	0/1:92,101:193:99:2597,0,2369	20	0	1	0
chr3	133947398	133947398	T	C	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon9:c.A1153G:p.I385V,	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.515	P	0.214	B	0.000	D	0.999	D	0.485	N	0.34	T	-1.034	T	0.088	T	0.14	-0.133	3.349	5.58	2.116	1.120	12.297	0.103	0.0135174260585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.287e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06992	T	0.278	0.32022	B	0.214	0.37471	B	0.000082	0.51296	D	0.172856	0.998569	0.45092	D	1.025	0.25523	L	0.34	0.58176	T	-0.08	0.09297	N	0.286	0.32370	-1.0337	0.19268	T	0.088	0.33913	T	10	0.1741527	0.32279	T	0.013517	0.32986	T	0.103	0.29403	0.552	0.66856	0.456368778954	0.45261	0.17417772395812692	0.17336	0.180607798138	0.20310	0.483463734388	0.36534	T	0.058665	0.30903	T	-0.178178	0.24006	T	-0.493717	0.23001	T	0.238408386707306	0.22346	T	0.763624	0.39028	T	0.072592154	0.16160	0.090469114	0.21215	0.072592154	0.16159	0.090469114	0.21214	-2.945	0.09600	T	0.1471760560640755	0.17034	0.085	0.18122	B	.;.	.;.	1.737092	0.22105	15.48	0.72376456997053173	0.09952	0.69810	0.34336	D	AEFDBI	0.285429	0.39806	N	-0.239153582156905	0.31538	1.769466	-0.054687819197049	0.37289	2.181248	0.999827058612655	0.43622	0.740787	0.97801	0	0.59043	0.45803	0	0.658983	0.55881	0	0.673998	0.66042	0	.	.	5.58	5.58	0.84361	1.446000	0.34701	2.941000	0.35666	-0.715000	0.03906	0.917000	0.31872	0.999000	0.35428	0.795000	0.37519	0.0:0.0:0.1413:0.8587	12.297	0.54172	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	41.22	34	chr3	133947398	.	T	C	41.22	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.838e+00;DP=1467;ExcessHet=0.3300;FS=122.093;InbreedingCoeff=-0.0725;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.17;ReadPosRankSum=0.287;SOR=10.352	GT:AD:DP:GQ:PL	0/1:67,17:84:34:34,0,1208	18	0	3	0
chr3	134647435	134647435	C	T	exonic	KY	.	nonsynonymous SNV	KY:NM_001350859:exon2:c.G199A:p.G67R	Myopathy, myofibrillar, 7, Autosomal recessive	.	423	1098	1	0	0	1	0.000455166	1.0000	0.998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.028	B	0.032	N	1.000	N	0	N	.	.	-0.972	T	0.117	T	0.133	1.744	11.79	5.85	2.767	3.761	15.658	0.046	0.0228634671289	.	.	5.744e-05	0	0	0	0	6.298e-05	0	0.0002	3.23e-05	5	154602	rs780340911	2.546e-05	2.531e-05	2.054e-05	3.042e-05	0.0002	1.878e-05	1.64e-05	0.0001	9.542e-05	0	0	0	0.0001	0	0.0002	1.266e-05	1.665e-05	0.0002	1.971e-05	1.97e-05	2.569e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.039	0.49613	D	0.601	0.08870	T	0.188	0.29318	B	0.028	0.21332	B	0.031548	0.25152	N	0.376195	0.903405	0.36227	D	0	0.06538	N	.	.	.	0.43	0.04161	N	0.281	0.31814	-0.9718	0.36819	T	0.117	0.41209	T	8	0.16821852	0.31361	T	0.022863	0.45784	T	0.046	0.12618	0.435	0.48664	0.566443977814	0.56308	0.31659495308663005	0.31572	0.183051395071	0.20588	0.362455189228	0.19743	T	0.00621	0.05647	T	-0.358433	0.04219	T	-0.515972	0.20704	T	0.102305824485931	0.12609	T	0.808019	0.45805	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	0.03301	B	.;.	.;.	5.582386	0.92314	32	0.99283437557976051	0.58008	0.91346	0.53348	D	AEFBI	0.698083	0.65588	D	0.379058225370518	0.60288	4.216196	0.425789498433905	0.63175	4.546311	0.999385742501355	0.39415	0.497415	0.19182	0	0.59043	0.45803	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	5.85	5.85	0.93663	4.068000	0.57252	7.692000	0.65839	0.599000	0.40250	0.994000	0.38300	1.000000	0.68203	0.485000	0.28678	0.0:1.0:0.0:0.0	15.658	0.76910	922	0.19044	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	826.98	34	chr3	134647435	.	C	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.030e-01;DP=777;ExcessHet=0.0000;FS=1.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.49;ReadPosRankSum=-1.437e+00;SOR=0.431	GT:AD:DP:GQ:PL	0/1:37,35:72:99:841,0,940	20	0	1	0
chr3	136855578	136855578	A	G	exonic	SLC35G2	.	nonsynonymous SNV	SLC35G2:NM_001097599:exon2:c.A1118G:p.Y373C	.	.	419	1087	14	2	0	18	0.00821168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.941	P	0.814	P	0.000	D	1.000	D	1.79	L	0.65	T	-0.776	T	0.209	T	0.929	1.464	10.84	4.75	1.033	5.899	11.600	0.261	.	0.0016	0.00299521	0.0024	0.0002	0.0014	0	0.0002	0.0016	0.0033	0.0096	0.0021798	337	154602	rs140456008	0.0015	0.0015	0.0013	0.0018	0.0098	0.0015	0.0015	0.0092	0.0090	0.0002	0.0013	0.0036	2.519e-05	0.0001	0.0040	0.0010	0.0017	0.0098	0.0013	0.0013	0.0013	0.0014	0.0089	0.0012	0.0011	0.0068	0.0061	0.0001	0	0.0022	0.0035	0.0004	0.0004	0.0034	0.0015	0.0009	0.0089	0.109	0.29288	T	0.176	0.29843	T	0.941	0.52883	P	0.814	0.58796	P	0.000113	0.50451	D	0.138683	1	0.81001	D	1.25	0.31749	L	0.65	0.52642	T	-1.83	0.42957	N	0.311	0.35194	-0.7761	0.56520	T	0.209	0.56879	T	10	0.008176893	0.00185	T	.	.	.	0.261	0.57352	.	.	0.41337360676	0.40951	0.8087693011032003	0.80831	0.168846747841	0.19038	0.659198641777	0.61294	T	0.142953	0.47881	T	-0.0766298	0.40262	T	0.124257	0.78516	D	0.0505479880015484	0.05596	T	0.892511	0.62902	D	0.093904436	0.22065	0.10239552	0.24541	0.093904436	0.22065	0.10239552	0.24541	-6.292	0.48658	T	.	.	0.074	0.05979	B	.;.	.;.	2.998979	0.40067	21.1	0.95649811999670209	0.27461	0.96100	0.67533	D	AEFDBI	0.800336	0.72635	D	0.508805458413673	0.67608	5.104481	0.515525171385735	0.69034	5.303036	0.999997934410551	0.74766	0.732398	0.92422	0	0.601575	0.49859	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.93	4.75	0.59954	5.888000	0.69501	8.069000	0.76432	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.8666:0.0:0.0:0.1334	11.600	0.50254	713	0.56348	EamA domain;EamA 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	0.02381	2818.98	123	chr3	136855578	.	A	G	2818.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.272;DP=2319;ExcessHet=0.0000;FS=2.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.671e+00;SOR=0.858	GT:AD:DP:GQ:PL	0/1:124,110:234:99:2833,0,3286	20	0	1	0
chr3	148741765	148741765	G	T	exonic	AGTR1	.	nonsynonymous SNV	AGTR1:NM_001382736:exon2:c.G730T:p.A244S	Renal tubular dysgenesis, Autosomal recessive	.	0	1495	27	0	0	27	0.00894929	.	.	697877	Renal_tubular_dysgenesis|not_provided	Human_Phenotype_Ontology:HP:0008660,MONDO:MONDO:0017609,MedGen:C0266313,Orphanet:3033|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.971	D	0.000	D	1.000	D	2.22	M	1.35	T	-0.718	T	0.179	T	0.709	4.561	24.7	5.48	2.572	6.739	19.387	0.203	.	0.0035	0.00259585	0.0041	0.0006	0.0009	0	0.0005	0.0045	0.0067	0.0099	0.0037386	578	154602	rs12721225	0.0039	0.0039	0.0036	0.0042	0.0095	0.0038	0.0038	0.0089	0.0087	0.0004	0.0009	0.0121	0	0.0011	0.0068	0.0037	0.0041	0.0095	0.0026	0.0026	0.0027	0.0025	0.0088	0.0024	0.0023	0.0067	0.0059	0.0007	0	0.0008	0.0135	0	0.0004	0.0136	0.0037	0.0033	0.0088	0.0	0.91255	D	0.028	0.58089	D	0.995	0.67487	D	0.971	0.72444	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.25	0.63811	M	1.35	0.34648	T	-2.45	0.53577	N	0.335	0.39558	-0.7182	0.59551	T	0.179	0.52536	T	10	0.008590668	0.00195	T	.	.	.	0.203	0.48915	.	.	0.76893090584	0.76681	0.41110278085935276	0.41026	.	.	0.634834647179	0.57830	T	0.616481	0.87918	D	-0.258494	0.13077	T	-0.137263	0.60356	T	0.0268276710647454	0.01519	T	0.840916	0.51656	T	0.78755105	0.83120	0.6933731	0.81951	0.86457974	0.88438	0.6971618	0.82167	-4.317	0.28414	T	.	.	0.197	0.43734	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.336420	0.66495	25.0	0.99690017490504323	0.79842	0.99212	0.92884	D	AEFI	0.951920	0.96692	D	0.816296992742933	0.87116	9.107697	0.796776669456628	0.89570	10.02896	0.999999999890723	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.48	5.48	0.80675	6.859000	0.75265	8.655000	0.77949	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.387	0.94551	489	0.76795	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;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	0.02381	1832.98	37	chr3	148741765	.	G	T	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.109e+00;DP=926;ExcessHet=0.0000;FS=1.304;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.846;SOR=0.621	GT:AD:DP:GQ:PL	0/1:72,73:145:99:1847,0,1877	20	0	1	0
chr3	149040122	149040122	A	G	exonic	HLTF	.	nonsynonymous SNV	HLTF:NM_001318934:exon21:c.T2408C:p.I803T	.	.	430	1088	4	0	0	4	0.00183486	.	.	3199681	HLTF-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.732	P	0.264	B	.	.	1.000	D	2.07	M	-1.91	D	0.060	D	0.454	T	0.566	3.350	17.28	5.5	2.100	7.487	15.293	0.563	0.114512013242	0.0027	0.00199681	0.0028	0.0006	0.0018	0	0.0012	0.0044	0.0022	0.0006	0.0027684	428	154602	rs61750365	0.0034	0.0034	0.0034	0.0033	0.0040	0.0033	0.0033	0.0039	0.0038	0.0007	0.0025	0.0026	0	0.0014	0.0016	0.0040	0.0028	0.0007	0.0027	0.0027	0.0028	0.0026	0.0043	0.0025	0.0024	0.0037	0.0035	0.0008	0.0044	0.0043	0.0020	0	0.0016	0	0.0041	0.0028	0.0004	0.006	0.61437	D	0.022	0.57587	D	0.732	0.42714	P	0.264	0.39629	B	.	.	.	.	0.999555	0.47544	D	2.93	0.84523	M	-1.91	0.84701	D	-3.1	0.67589	D	0.419	0.47022	0.060	0.83429	D	0.454	0.78709	T	9	0.009617865	0.00217	T	0.114512	0.79339	D	0.563	0.82118	.	.	0.902178378249	0.90120	0.580098946535143	0.57938	0.285657866325	0.30974	0.573764562607	0.49209	T	0.090357	0.38568	T	-0.165557	0.25908	T	-0.0100464	0.69682	D	0.0446388796703812	0.04537	T	0.846115	0.52631	T	0.24728315	0.47704	0.32273155	0.58210	0.24728315	0.47704	0.32273155	0.58210	-10.591	0.77369	D	.	.	0.682	0.78008	P	.;.;.;.;.	.;.;.;.;.	4.170564	0.62707	24.5	0.99623845455794413	0.75594	0.98708	0.85845	D	AEFBI	0.781809	0.71328	D	0.443251018824958	0.63820	4.623415	0.518710669634527	0.69249	5.333682	0.99999997995652	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.5	5.5	0.81386	7.563000	0.81293	11.115000	0.86412	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.293	0.73585	912	0.21483	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1114.98	34	chr3	149040122	.	A	G	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.061;DP=780;ExcessHet=0.0000;FS=9.446;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-2.336e+00;SOR=1.662	GT:AD:DP:GQ:PL	0/1:36,44:80:99:1129,0,869	20	0	1	0
chr3	157045559	157045559	G	A	exonic	LEKR1	.	nonsynonymous SNV	LEKR1:NM_001004316:exon13:c.G1888A:p.G630R,	.	.	434	1087	1	0	0	1	0.00045977	.	.	2377738	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.105	B	0.148	B	0.073	N	1.000	N	1.01	L	0.57	T	-0.995	T	0.116	T	0.162	2.421	14.06	2.16	0.142	1.128	9.742	0.044	0.01846712278	7.7e-05	0.000199681	0.0001	9.61e-05	0	0	0	0.0003	0	0	0.0001229	19	154602	rs200609443	9.645e-05	9.645e-05	0.0001	9.076e-05	0.0033	8.309e-05	7.849e-05	0.0022	0.0018	5.974e-05	4.473e-05	0	0	0	0.0033	7.194e-05	0.0004	0.0002	8.54e-05	8.531e-05	8.998e-05	8.061e-05	0.0004	4.956e-05	3.962e-05	7.301e-05	3.34e-05	2.407e-05	0	6.543e-05	0	0	0	0.0068	0.0001	0	0.0004	0.225	0.19430	T	0.365	0.16717	T	0.105	0.25993	B	0.148	0.34065	B	0.072951	0.21377	N	0.398080	1	0.08975	N	1.26	0.31868	L	0.57	0.55090	T	-1.63	0.43906	N	0.139	0.13769	-0.9945	0.31432	T	0.116	0.40986	T	10	0.039067954	0.02369	T	0.018467	0.40544	T	0.044	0.11924	0.142	0.04556	0.279776271856	0.27574	.	.	.	.	0.247266665101	0.03485	T	0.009596	0.08729	T	-0.387762	0.02781	T	-0.504627	0.21868	T	0.0553374625742435	0.06413	T	0.579842	0.20971	T	0.04246965	0.06447	0.08236295	0.18792	0.04246965	0.06447	0.08236295	0.18791	.	.	.	.	.	0.114	0.22500	B	.;.	.;.	0.951541	0.13275	9.778	0.9885719628058085	0.47407	0.25341	0.22669	N	AEFDBI	0.086745	0.17589	N	-0.717458118748436	0.15531	0.7835195	-0.730121612085992	0.16212	0.8565729	0.999887518585434	0.44867	0.541725	0.22260	1	0.573888	0.26702	0	0.459889	0.06779	1	0.530356	0.10902	0	.	.	4.94	2.16	0.26663	1.228000	0.32190	3.118000	0.36388	-0.111000	0.15049	0.079000	0.22314	0.551000	0.25468	0.517000	0.29406	0.2329:0.0:0.7671:0.0	9.742	0.39589	675	0.60470	.;.	.	.	.	.	.	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	0.02381	2435.98	34	chr3	157045559	.	G	A	2435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.913;DP=855;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.50;ReadPosRankSum=-7.820e-01;SOR=0.689	GT:AD:DP:GQ:PL	0/1:75,93:168:99:2450,0,1868	20	0	1	0
chr3	160366074	160366074	T	G	exonic	IFT80	.	nonsynonymous SNV	IFT80:NM_001190242:exon5:c.A107C:p.K36T	Short-rib thoracic dysplasia 2 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.954	P	0.638	P	0.000	U	1.000	D	2.98	M	5.06	T	-0.073	T	0.430	T	0.849	4.642	25.5	5.42	2.059	7.512	15.475	0.438	0.0979167527197	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263231149	8.899e-06	8.893e-06	5.449e-06	1.238e-05	0.0002	4.97e-06	3.83e-06	8.887e-05	7.055e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.007	0.92824	D	0.954	0.54400	P	0.638	0.52030	P	0.000022	0.55875	U	0.000000	1	0.81001	D	3.11	0.87757	M	1.62	0.66652	T	-4.41	0.85617	D	0.727	0.74189	-0.0735	0.80698	T	0.430	0.77225	T	10	0.7981738	0.79259	D	0.097917	0.76854	D	0.438	0.74235	0.66	0.79791	0.844352737425	0.84286	0.5147304624343669	0.51396	0.674420272795	0.59643	0.790977120399	0.80592	T	0.607817	0.87526	D	0.14149	0.68466	D	0.202132	0.83246	D	0.885138332843781	0.53543	D	0.959604	0.92647	D	0.54508364	0.69681	0.46281505	0.68812	0.54508364	0.69682	0.46281505	0.68813	-13.56	0.91538	D	0.9090531324842362	0.95781	0.856	0.80112	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.102205	0.85261	28.5	0.99810630918327414	0.89442	0.98217	0.80630	D	AEGBIJ	0.898494	0.84185	D	0.718680782715046	0.80856	7.388184	0.702455216274892	0.82566	7.798621	0.999999997887043	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.42	5.42	0.78666	7.535000	0.80919	7.881000	0.72509	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.475	0.75199	690	0.58899	WD40-repeat-containing domain;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	619.98	33	chr3	160366074	.	T	G	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.642;DP=768;ExcessHet=0.0000;FS=0.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.27;ReadPosRankSum=3.21;SOR=0.873	GT:AD:DP:GQ:PL	0/1:45,30:75:99:634,0,1015	20	0	1	0
chr3	160404347	160404347	T	C	exonic	SMC4	.	nonsynonymous SNV	SMC4:NM_005496:exon4:c.T530C:p.V177A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	D	0.91	D	0.000	D	1.000	D	2.34	M	3.32	T	-0.453	T	0.329	T	0.668	4.788	27.0	6.16	2.367	8.004	16.806	0.278	0.0229069441454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0054	0.0001	0.0001	0.0001	9.927e-05	9.386e-05	0.0001	0.0001	9.415e-05	0	3.915e-05	7.617e-05	0	0	0.0001	8.551e-05	2.42e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.032	0.54934	D	0.992	0.64738	D	0.91	0.64641	D	0.000001	0.62929	D	0.056395	1	0.81001	D	2.34	0.67151	M	2.91	0.55945	T	-3.7	0.71157	D	0.795	0.79214	-0.4533	0.70291	T	0.329	0.69682	T	9	0.70917594	0.72932	D	0.022907	0.45838	T	0.278	0.59497	0.521	0.62368	0.709883084589	0.70734	0.460518375338523	0.45969	0.58308373772	0.54039	0.600413441658	0.52963	T	0.47436	0.80584	T	0.112874	0.65647	D	-0.0756403	0.65220	T	0.978100121021271	0.72158	D	0.926107	0.81930	D	0.41292104	0.61618	0.4092579	0.65219	0.41292104	0.61618	0.4092579	0.65219	-9.197	0.69057	D	.	.	0.198	0.63267	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.808997	0.78220	26.9	0.99886819405452432	0.96204	0.99167	0.92217	D	AEFDGBIJ	0.937139	0.93449	D	0.746699790061011	0.82689	7.825052	0.770386729956323	0.87669	9.303158	0.999999999999999	0.74766	0.736574	0.97449	0	0.672317	0.65289	0	0.732669	0.93749	0	0.273489	0.05413	2	.	.	6.16	6.16	0.99302	7.982000	0.87742	7.911000	0.74030	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.806	0.85530	744	0.52588	RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal;.;.;RecF/RecN/SMC, N-terminal;RecF/RecN/SMC, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	66.6	38	chr3	160404347	.	T	C	66.6	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.900e+00;DP=960;ExcessHet=0.1072;FS=231.547;InbreedingCoeff=-0.0435;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.41;ReadPosRankSum=0.843;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,15:87:80:0|1:160404346_G_C:80,0,2519:160404346	19	0	2	0
chr3	167621610	167621610	A	C	exonic	WDR49	.	nonsynonymous SNV	WDR49:NM_001348951:exon4:c.T640G:p.F214V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.998	D	0.991	D	.	.	1.000	D	.	.	1.91	T	-1.019	T	0.130	T	0.483	4.182	21.7	5.41	2.043	6.397	14.418	0.344	0.0395840456917	.	0.000199681	0.0006	0	0	0	0	0	0	0.0012	6.47e-05	10	154602	rs201439202	5.788e-05	5.472e-05	3.713e-05	7.918e-05	0.0010	4.735e-05	4.386e-05	0.0008	0.0008	0	0	0	0	0	0	0	1.729e-05	0.0010	4.597e-05	4.593e-05	1.285e-05	8.058e-05	0.0015	2.108e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.016	0.54683	D	0.0	0.92824	D	0.998	0.73220	D	0.991	0.79672	D	.	.	.	.	1	0.81001	D	.	.	.	1.91	0.23283	T	-4.27	0.76254	D	0.663	0.67218	-1.0189	0.24074	T	0.130	0.43989	T	8	0.25358284	0.42727	T	0.039584	0.58894	D	0.344	0.66582	0.73	0.86373	0.235038932564	0.23097	.	.	.	.	.	.	.	.	.	.	-0.37532	0.03333	T	-0.35745	0.38348	T	0.328140104219546	0.26150	T	0.741726	0.40508	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	0.62543	A	.;.;.;.	.;.;.;.	4.253203	0.64575	24.7	0.99078946641913146	0.51906	0.95565	0.65228	D	AEFI	0.752898	0.69325	D	0.573250996541392	0.71509	5.66164	0.586662230965021	0.73981	6.06042	0.320308920355644	0.19378	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	5.41	0.78313	5.944000	0.69931	9.290000	0.79784	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	14.418	0.66737	842	0.36989	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1403.98	37	chr3	167621610	.	A	C	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.225;DP=871;ExcessHet=0.0000;FS=2.733;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=0.272;SOR=1.034	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1418,0,1153	20	0	1	0
chr3	169828831	169828831	C	T	exonic	LRRIQ4	.	nonsynonymous SNV	LRRIQ4:NM_001080460:exon2:c.C1093T:p.P365S,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.998	D	0.000	D	1.000	D	2.775	M	1.55	T	-0.595	T	0.247	T	0.611	3.187	16.67	5.77	2.723	5.132	19.587	0.369	0.0337454600544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.006	0.70582	D	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.000000	0.999943	0.51968	D	3.045	0.86684	M	1.55	0.29866	T	-7.47	0.94958	D	0.746	0.74553	-0.5953	0.65008	T	0.247	0.61658	T	10	0.944898	0.93814	D	0.033745	0.55199	D	0.369	0.68844	0.797	0.91729	0.342631996419	0.33872	0.7385333209320578	0.73798	0.533223111865	0.50761	0.43634814024	0.30079	T	0.102127	0.40955	T	0.0600881	0.59625	T	-0.151464	0.59114	T	0.999426484107971	0.97351	D	0.745225	0.36553	T	0.8344004	0.86210	0.8173323	0.89368	0.8344004	0.86212	0.8173323	0.89368	-10.399	0.76265	D	.	.	0.531	0.65959	A	.	.	4.653191	0.74191	26.1	0.99907604626518132	0.97801	0.94069	0.60019	D	AEFGBI	0.528067	0.54975	D	0.732194286057841	0.81743	7.594186	0.652231741593344	0.78778	6.945028	0.999999990151675	0.74766	0.369785	0.05700	0	0.475579	0.06741	0	0.547309	0.15389	0	0.651492	0.60203	0	.	.	5.77	5.77	0.91077	5.254000	0.65274	7.687000	0.65600	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.812000	0.38265	0.0:1.0:0.0:0.0	19.587	0.95487	374	0.84073	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1408.98	34	chr3	169828831	.	C	T	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.369;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.671;SOR=0.660	GT:AD:DP:GQ:PL	0/1:58,59:117:99:1423,0,1409	20	0	1	0
chr3	179333305	179333305	G	A	exonic	ZNF639	.	nonsynonymous SNV	ZNF639:NM_001375803:exon5:c.G341A:p.C114Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.995	D	0.974	D	0.000	D	0.998	D	1.04	L	4.38	T	-1.184	T	0.037	T	0.867	3.112	16.40	5.87	2.941	4.778	20.583	0.283	0.00653095386155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.011	0.92824	D	0.995	0.67487	D	0.974	0.73157	D	0.000000	0.84330	D	0.000000	0.998283	0.44722	D	1.04	0.26193	L	3.71	0.04046	T	-0.56	0.99072	N	0.775	0.79214	-1.1839	0.00315	T	0.037	0.15899	T	10	0.5321286	0.63243	D	0.006531	0.17215	T	0.283	0.60100	0.535	0.64439	0.666472316455	0.66366	0.2011543955227833	0.20032	0.867762679245	0.69277	0.750545442104	0.74527	T	0.016813	0.48256	T	0.15504	0.69740	D	-0.0150719	0.69354	D	0.83831399679184	0.49190	D	0.793221	0.44280	T	0.6495259	0.75338	0.62037164	0.77886	0.6495259	0.75339	0.62037164	0.77887	-2.609	0.06572	T	.	.	0.161	0.47027	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.659630	0.51986	23.2	0.99595059477394743	0.73866	0.87451	0.46995	D	AEFBHCI	0.745795	0.68836	D	0.679670836047894	0.78300	6.843895	0.718759423085798	0.83802	8.118763	0.784569897708645	0.23906	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	4.907000	0.62996	9.864000	0.82078	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.583	0.99411	687	0.59234	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1403.98	35	chr3	179333305	.	G	A	1403.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.140e-01;DP=804;ExcessHet=0.0000;FS=6.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.852;SOR=0.317	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1418,0,1299	20	0	1	0
chr3	179604915	179604915	A	C	exonic	NDUFB5	.	nonsynonymous SNV	NDUFB5:NM_001199957:exon1:c.A100C:p.T34P	.	.	427	1059	36	0	0	36	0.0167131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.994	D	0.925	D	0.017	N	1.000	N	2.38	M	0.88	T	-0.932	T	0.145	T	0.605	4.032	20.7	2.03	0.504	0.465	4.583	0.202	.	0.0075	0.00479233	0.0103	0.0011	0.0075	0	0.0215	0.0136	0.0184	0.0048	0.0086545	1338	154602	rs35399127	0.0092	0.0092	0.0093	0.0091	0.0415	0.0091	0.0090	0.0372	0.0355	0.0028	0.0066	0.0255	5.081e-05	0.0176	0.0415	0.0092	0.0105	0.0041	0.0080	0.0080	0.0073	0.0087	0.0099	0.0076	0.0075	0.0090	0.0088	0.0017	0.0044	0.0099	0.0234	0	0.0199	0.0408	0.0096	0.0105	0.0025	0.079	0.55530	T	0.136	0.44702	T	0.994	0.66517	D	0.925	0.65999	D	0.017428	0.27726	N	0.392684	0.999622	0.20843	N	2.74	0.80084	M	0.88	0.53731	T	-1.85	0.45769	N	0.353	0.56231	-0.9317	0.43889	T	0.145	0.46859	T	10	0.009079367	0.00205	T	.	.	.	0.202	0.48754	.	.	0.534814951121	0.53131	0.7674110700333394	0.76690	0.646346701716	0.58049	0.545248329639	0.45187	T	0.081848	0.36692	T	-0.35028	0.04709	T	-0.266534	0.48170	T	0.0529844322233862	0.06016	T	0.70273	0.32446	T	0.33476305	0.55858	0.3759712	0.62729	0.33476305	0.55858	0.3759712	0.62729	-2.545	0.10887	T	.	.	0.083	0.15160	B	.;.;.;.	.;.;.;.	3.385467	0.46848	22.4	0.99351467137641836	0.60615	0.02986	0.07840	N	ALL	0.174802	0.30195	N	0.084213362616481	0.45728	2.824432	0.0279185460009141	0.41016	2.457187	0.999999999957909	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.75	2.03	0.25714	0.473000	0.21843	0.748000	0.21214	-0.053000	0.16966	0.458000	0.26628	0.000000	0.08366	0.993000	0.69303	0.5101:0.323:0.1668:0.0	4.583	0.11663	698	0.58074	.;.;.;.	.	.	.	.	rs35399127	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	0.04762	1251.11	36	chr3	179604915	.	A	C	1251.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.406;DP=798;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.17;ReadPosRankSum=0.00;SOR=0.687	GT:AD:DP:GQ:PL	0/1:30,28:58:99:599,0,718	19	0	2	0
chr3	195725634	195725635	CC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1031_1032del:p.A344Vfs*61,	.	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1203696921	0.0308	0.0076	0.0327	0.0293	0.1476	0.0300	0.0297	0.1285	0.1212	0.1476	0.0214	0.0717	0.0385	0.0200	0.0412	0.0309	0.0378	0.0218	0.0147	0.0018	0.0312	0	0.0455	0.0040	0.0021	0.0044	0.0019	0.0455	0	0	0	0	0	0	0.0250	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3238.86	14	chr3	195725633	.	GCC	G,*	3238.86	.	AC=2,1;AF=0.059,0.029;AN=34;DP=339;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4302;MLEAC=3,1;MLEAF=0.088,0.029;MQ=36.17;QD=17.14;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,26,0:33:23:0|1:195725633_GCC_G:1069,0,23,1087,57,1131:195725633	15	0	1	4
chr3	195725633	195725635	GCC	0	exonic	MUC20	.	.	.	.	.	1216	292	5	0	9	14	0.00848896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	3238.86	14	chr3	195725633	.	GCC	G,*	3238.86	.	AC=2,1;AF=0.059,0.029;AN=34;DP=339;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.4302;MLEAC=3,1;MLEAF=0.088,0.029;MQ=36.17;QD=17.14;SOR=1.166	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,26,0:33:23:0|1:195725633_GCC_G:1069,0,23,1087,57,1131:195725633	15	0	1	4
chr3	195725636	195725748	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	0	exonic	MUC20	.	.	.	.	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2552.58	14	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	*,T	2552.58	.	AC=2,2;AF=0.059,0.059;AN=34;DP=570;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6985;MLEAC=3,3;MLEAF=0.088,0.088;MQ=37.63;QD=13.36;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,9,26:35:99:0|1:195725633_GCC_G:1250,893,785,460,0,4205:195725633	15	0	0	4
chr3	195725637	195725748	CAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	-	exonic	MUC20	.	frameshift deletion	MUC20:NM_001282506:exon2:c.1034_1145del:p.E346Qfs*32	.	.	1183	326	9	0	4	13	0.0136157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0202	0.0050	0.0209	0.0196	0.0718	0.0195	0.0193	0.0591	0.0545	0.0718	0.0127	0.0488	0.0280	0.0132	0.0281	0.0199	0.0246	0.0154	0.0430	0.0010	0.0571	0.0309	0.1562	0.0255	0.0202	0.0616	0.0400	0.1562	0	0.0208	0.1667	0	0	0	0.0469	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	2552.58	14	chr3	195725636	.	TCAGAGAGCAGCGCCTCTTCCGACGGCCTCCATCCAGTCATCACCCCGTCACGGGCCTCAGAGAGCAGCGCCTCTTCCGACGGCCCCCATCCAGTCATCACCCCGTCACGGGC	*,T	2552.58	.	AC=2,2;AF=0.059,0.059;AN=34;DP=570;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6985;MLEAC=3,3;MLEAF=0.088,0.088;MQ=37.63;QD=13.36;SOR=1.185	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,9,26:35:99:0|1:195725633_GCC_G:1250,893,785,460,0,4205:195725633	15	0	0	4
chr3	195725704	195725704	C	0	exonic	MUC20	.	.	.	.	.	572	884	39	0	27	66	0.0215827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	53.89	38	chr3	195725704	.	C	T,*	53.89	.	AC=1,4;AF=0.033,0.133;AN=30;BaseQRankSum=-3.213e+00;DP=1678;ExcessHet=0.0000;FS=40.690;InbreedingCoeff=0.3516;MLEAC=1,5;MLEAF=0.033,0.167;MQ=40.34;MQRankSum=0.190;QD=0.27;ReadPosRankSum=-3.371e+00;SOR=0.089	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,9:35:99:1|1:195725633_GCC_G:465,760,2527,108,305,0:195725633	12	0	1	6
chr3	195779335	195779335	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12245A:p.P4082H,	.	.	490	1018	7	3	4	17	0.00634456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.012	B	.	.	1.000	N	0.55	N	1.58	T	-1.006	T	0.037	T	0.049	-0.126	3.381	.	0.064	-0.137	5.844	0.002	0.00180689246163	.	.	0.0009	0	0	0	0	0.0009	0	0.0013	.	.	.	.	0.0007	0.0012	0.0006	0.0008	0.0027	0.0007	0.0006	0.0024	0.0022	8.981e-05	0.0001	0.0045	0	0	0.0021	0.0005	0.0010	0.0027	4.457e-05	0.0002	0	9.163e-05	7.161e-05	1.441e-05	9.01e-06	1.899e-05	1.026e-05	4.107e-05	0	0	0	0	0	0	7.161e-05	0	0	0.072	0.42199	T	0.057	0.46406	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.18	0.09796	N	0.075	0.04913	-1.0064	0.28034	T	0.037	0.16160	T	7	0.025258154	0.00726	T	0.001807	0.03115	T	0.002	0.00045	0.164	0.06842	0.0138822411134	0.00435	0.006124461012039382	0.00581	.	.	0.525325775146	0.42376	T	.	.	.	-0.33395	0.05817	T	-0.717472	0.04918	T	0.0169262058219215	0.00443	T	0.470053	0.13899	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31177	B	.;.	.;.	2.130127	0.27116	17.35	0.84023736791277071	0.15053	0.00538	0.02482	N	AEFBI	0.074869	0.15020	N	-1.22839780153285	0.04592	0.2075884	-1.35039577409552	0.03801	0.1780501	1.53857166002041E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	2.549000	0.45464	0.829000	0.21929	0.173000	0.17773	0.081000	0.22364	0.001000	0.17328	0.021000	0.11733	9.0E-4:0.0:0.9991:0.0	5.844	0.17905	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.025	66.34	193	chr3	195779335	.	G	T	66.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-6.250e-01;DP=3318;ExcessHet=0.0000;FS=15.164;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.57;MQRankSum=-1.579e+01;QD=0.26;ReadPosRankSum=-4.068e+00;SOR=1.947	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:232,19:251:80:1|0:195779318_A_G:80,0,9679:195779318	19	0	1	1
chr3	195779344	195779344	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12236C:p.S4079T,	.	.	518	988	7	3	6	19	0.00653595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	B	0.042	B	.	.	0.582	N	0	N	1.39	T	-1.009	T	0.035	T	0.06	-1.145	0.106	.	-1.707	-0.590	5.400	0.023	0.00354025192197	.	0.00259585	0.0008	0.0043	0	0	0	0.0008	0	0.0002	0.0006916	18	26028	rs201606843	0.0010	0.0047	0.0007	0.0012	0.0042	0.0009	0.0009	0.0037	0.0036	0.0014	0.0008	0.0074	0.0017	0.0003	0.0008	0.0006	0.0017	0.0042	0.0012	0.0035	0.0014	0.0009	0.0028	0.0009	0.0008	0.0021	0.0018	0.0028	0	0.0008	0	0	0.0004	0.0156	0.0007	0	0	1.0	0.00964	T	0.458	0.12668	T	.	.	.	.	.	.	.	.	.	.	1	0.31088	N	.	.	.	1.29	0.35775	T	-0.22	0.10480	N	0.055	0.03956	-1.0089	0.27261	T	0.035	0.15074	T	7	0.010114998	0.00226	T	0.00354	0.08062	T	0.023	0.04649	.	.	0.0138822411134	0.00435	0.0010827751267465356	0.00100	.	.	0.597083687782	0.52493	T	.	.	.	-0.337964	0.05531	T	-0.723239	0.04641	T	0.000837459423592235	0.00008	T	0.49605	0.15399	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07745	B	.;.	.;.	-0.779922	0.01146	0.054	0.2084108579602908	0.00768	0.00091	0.00603	N	AEFBI	0.062084	0.11912	N	-1.85706924428011	0.00420	0.01806415	-1.94315667313069	0.00401	0.01773408	1.71647384336543E-4	0.05786	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.386000	0.20429	-0.460000	0.09044	-2.225000	0.00346	0.024000	0.20007	0.000000	0.08366	0.008000	0.08271	0.0:0.7312:0.0:0.2688	5.400	0.15591	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.025	606.34	193	chr3	195779344	.	C	G	606.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.507e+00;DP=3357;ExcessHet=0.0000;FS=16.284;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.32;MQRankSum=-1.620e+01;QD=2.29;ReadPosRankSum=-4.960e+00;SOR=1.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:233,32:265:99:1|0:195779318_A_G:620,0,9684:195779318	19	0	1	1
chr3	195779348	195779348	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12232G:p.T4078A,	.	.	497	1010	7	3	5	18	0.00639449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.0	B	.	.	1.000	N	0.55	N	1.53	T	-1.031	T	0.036	T	0.069	-1.252	0.050	.	-2.652	-0.600	0.133	0.116	0.00558112130345	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs867000502	0.0008	0.0024	0.0005	0.0010	0.0038	0.0007	0.0007	0.0034	0.0032	9.228e-05	0.0002	0.0068	0.0005	0.0001	0.0007	0.0005	0.0016	0.0038	6.432e-05	0.0005	4.996e-05	7.957e-05	0.0001	2.479e-05	1.564e-05	3.594e-05	2.179e-05	4.781e-05	0	0	0	0	0	0	0.0001	0	0	0.399	0.10517	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.53	0.34050	T	-0.2	0.10656	N	0.025	0.01135	-1.0312	0.20066	T	0.036	0.15378	T	7	0.032523215	0.01406	T	0.005581	0.14409	T	0.116	0.32463	0.141	0.04462	0.0138822411134	0.00435	0.0016348145852771723	0.00151	.	.	0.513516902924	0.40715	T	.	.	.	-0.330307	0.06089	T	-0.71224	0.05180	T	0.0395774206418778	0.03613	T	0.445855	0.12478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05231	B	.;.	.;.	0.063231	0.04735	1.364	0.15367596653047688	0.00373	0.00120	0.00751	N	AEFBI	0.062070	0.11907	N	-1.89793912134882	0.00347	0.01488908	-2.00956016551023	0.00292	0.01290975	2.42342441530431E-4	0.06141	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.450000	0.21475	-3.779000	0.02542	0.085000	0.17582	0.002000	0.15269	0.000000	0.08366	0.016000	0.10718	0.2464:0.2537:0.2463:0.2535	0.133	0.00070	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.025	876.34	193	chr3	195779348	.	T	C	876.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.93;DP=3359;ExcessHet=0.0000;FS=14.518;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=56.92;MQRankSum=-1.594e+01;QD=3.31;ReadPosRankSum=-4.970e+00;SOR=1.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,38:265:99:1|0:195779318_A_G:890,0,9415:195779318	19	0	1	1
chr3	195779351	195779351	C	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12229C:p.D4077H,	.	.	505	1001	7	3	6	19	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.932	P	0.19	B	.	.	1.000	N	0.55	N	1.49	T	-1.061	T	0.028	T	0.046	-1.702	0.011	.	-2.006	0.400	2.748	0.128	0.00220071018002	.	0.00259585	0	0	0	0	0	0	0	0	0.0005379	14	26028	rs571574310	0.0008	0.0021	0.0005	0.0010	0.0038	0.0007	0.0007	0.0034	0.0032	0.0001	0.0002	0.0068	0.0004	3.314e-05	0.0007	0.0005	0.0016	0.0038	9.644e-05	0.0008	0.0001	8.559e-05	0.0001	4.498e-05	3.167e-05	3.837e-05	2.276e-05	0.0001	0	0.0001	0	0	0	0	0.0001	0	0	0.3	0.16091	T	0.106	0.38160	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31731	T	-0.38	0.15379	N	0.065	0.03841	-1.0614	0.11410	T	0.028	0.11882	T	7	0.0069993734	0.00159	T	0.002201	0.04151	T	0.128	0.35103	0.151	0.05441	0.0138822411134	0.00435	0.002611084531484482	0.00242	.	.	0.556186378002	0.46729	T	.	.	.	-0.363594	0.03931	T	-0.760054	0.03111	T	0.0268409512829791	0.01522	T	0.605039	0.22725	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.24260	B	.;.	.;.	0.228750	0.06102	2.547	0.1122228957335428	0.00163	0.00416	0.02058	N	AEFBI	0.080898	0.16362	N	-1.54262066526545	0.01577	0.06894808	-1.74102727225216	0.00968	0.04333797	1.43075145935211E-4	0.05573	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.108000	0.10827	-5.597000	0.01661	0.078000	0.17572	0.001000	0.13787	0.000000	0.08366	0.017000	0.10941	0.2996:0.4006:0.2998:0.0	2.748	0.04947	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.025	1203.33	193	chr3	195779351	.	C	G	1203.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=2.38;DP=3375;ExcessHet=0.0000;FS=12.866;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=56.36;MQRankSum=-1.604e+01;QD=4.38;ReadPosRankSum=-4.987e+00;SOR=1.438	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:229,46:275:99:1|0:195779318_A_G:1217,0,9478:195779318	19	0	1	1
chr3	195779372	195779372	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12208A:p.P4070T,	.	.	482	1018	7	6	9	28	0.00924574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.0	B	.	.	1.000	N	0.345	N	1.57	T	-1.008	T	0.031	T	0.057	-1.684	0.012	.	-0.833	-0.028	2.167	0.033	0.0196441212856	.	.	5.894e-05	0	0	0	0	0.0001	0	0	.	.	.	rs867543975	0.0008	0.0008	0.0006	0.0009	0.0035	0.0007	0.0007	0.0031	0.0030	4.355e-05	0.0001	0.0064	0	0	0.0021	0.0005	0.0014	0.0035	0.0001	0.0006	9.96e-05	0.0001	0.0006	5.096e-05	3.673e-05	7.037e-05	4.828e-05	0	0	0	0	0.0006	0.0002	0	0.0002	0	0	0.29	0.14996	T	0.199	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.57	0.29602	T	-0.37	0.15782	N	0.017	0.00226	-1.0077	0.27634	T	0.031	0.13418	T	7	0.034207344	0.01621	T	0.019644	0.42054	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.004583564881801972	0.00431	.	.	0.555163383484	0.46585	T	.	.	.	-0.372528	0.03468	T	-0.772887	0.02674	T	0.0338267409433816	0.02608	T	0.59684	0.22194	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.01534	B	.;.	.;.	-0.246798	0.02861	0.404	0.72364385229519168	0.09947	0.00065	0.00468	N	AEFBI	0.046793	0.07810	N	-1.3404336947986	0.03225	0.1436975	-1.45104001981547	0.02761	0.1275674	1.18676957427108E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.340000	0.07868	-8.022000	0.01043	-2.279000	0.00328	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3306:0.3412:0.3282	2.167	0.03603	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.02778	1760.1	193	chr3	195779372	.	G	T	1760.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-8.950e-01;DP=3465;ExcessHet=0.0000;FS=15.550;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.028;MQ=55.92;MQRankSum=-1.574e+01;QD=6.38;ReadPosRankSum=-9.870e-01;SOR=1.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,59:276:99:1|0:195779318_A_G:1773,0,8942:195779318	17	0	1	3
chr3	195779374	195779374	C	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206T:p.S4069I,	.	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	B	0.004	B	.	.	0.000	P	0.55	N	0.95	T	-0.996	T	0.000	T	0.084	0.133	4.718	.	0.488	-0.936	3.451	0.014	.	.	0.00299521	0.0003	0.0015	0	0.0119	0	0.0002	0	0	0.0184801	481	26028	rs150394536	0.0009	0.0027	0.0008	0.0009	0.0072	0.0008	0.0008	0.0061	0.0057	0.0004	0.0022	0.0025	0.0072	0.0010	0	0.0005	0.0013	0.0019	0.0003	0.0061	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0003	0.0009	0	0.0006	0	0.0004	0	0.0011	0.002	0.72154	D	0.056	0.46862	T	.	.	.	.	.	.	.	.	.	.	0.997681	0.58761	P	.	.	.	0.95	0.51474	T	-0.92	0.24676	N	0.054	0.03841	-0.9961	0.31001	T	0.000	0.00011	T	6	0.0044411123	0.00091	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.003929468286863758	0.00367	.	.	0.550907731056	0.45985	T	.	.	.	-0.721069	0.00027	T	-0.664722	0.07951	T	0.00241374731233886	0.00025	T	0.549445	0.18903	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.26855	B	.;.	.;.	1.302655	0.17048	12.93	0.9065680457689167	0.19908	0.00254	0.01397	N	AEFBI	0.066007	0.12904	N	-1.23915372028269	0.04444	0.2005883	-1.34796285310444	0.03830	0.1794608	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	rs150394536	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	1896.92	193	chr3	195779374	.	C	A,T	1896.92	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=-3.165e+00;DP=3512;ExcessHet=0.1639;FS=4.062;InbreedingCoeff=0.2768;MLEAC=2,2;MLEAF=0.083,0.083;MQ=57.65;MQRankSum=-1.405e+01;QD=3.82;ReadPosRankSum=2.94;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:220,0,59:279:99:1|0:195779318_A_G:1762,2439,11693,0,9254,9070:195779318	10	0	1	9
chr3	195779374	195779374	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12206A:p.S4069N,	.	.	684	807	3	3	25	34	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	P	0.183	B	.	.	1.000	N	0.55	N	0.97	T	-1.073	T	0.057	T	0.053	0.183	4.983	.	0.488	-0.936	3.451	0.043	0.0128577008312	.	.	7.978e-05	0	0	0	0	0.0002	0	0	.	.	.	rs150394536	0.0013	0.0011	0.0011	0.0015	0.0041	0.0012	0.0012	0.0037	0.0035	5.063e-05	0.0001	0.0083	0	0	0.0008	0.0010	0.0019	0.0041	0.0001	0.0004	6.219e-05	0.0002	0.0002	5.226e-05	3.671e-05	0.0001	7.961e-05	0	0	0	0	0	0	0	0.0002	0	0	0.05	0.39575	D	0.145	0.33109	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.97	0.50976	T	-0.38	0.13418	N	0.027	0.01347	-1.0732	0.08724	T	0.057	0.23980	T	7	0.04491505	0.03503	T	0.012858	0.31797	T	0.043	0.11576	0.132	0.03662	0.0138822411134	0.00435	0.0015149652723430009	0.00140	.	.	0.555448949337	0.46625	T	.	.	.	-0.340207	0.05374	T	-0.72646	0.04489	T	0.0234442759583474	0.01076	T	0.524548	0.17205	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32827	B	.;.	.;.	-0.337979	0.02454	0.282	0.57510427609479231	0.05785	0.00260	0.01424	N	AEFBI	0.098906	0.19920	N	-0.957344642240742	0.09529	0.4513623	-1.15047258852807	0.06760	0.3264632	1.1905244374725E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-3.401000	0.00537	-5.477000	0.01704	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4478:0.552:1.0E-4:1.0E-4	3.451	0.07067	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1896.92	193	chr3	195779374	.	C	A,T	1896.92	.	AC=1,1;AF=0.042,0.042;AN=24;BaseQRankSum=-3.165e+00;DP=3512;ExcessHet=0.1639;FS=4.062;InbreedingCoeff=0.2768;MLEAC=2,2;MLEAF=0.083,0.083;MQ=57.65;MQRankSum=-1.405e+01;QD=3.82;ReadPosRankSum=2.94;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:220,0,59:279:99:1|0:195779318_A_G:1762,2439,11693,0,9254,9070:195779318	10	0	1	9
chr3	195779375	195779375	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12205G:p.S4069G,	.	.	488	1019	3	3	9	18	0.00439668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	P	0.128	B	.	.	1.000	N	0.55	N	1.03	T	-1.069	T	0.057	T	0.081	-0.351	2.343	.	0.408	0.477	3.255	0.063	0.0128824445826	.	.	5.854e-05	0	0	0	0	0.0001	0	0	6.5e-06	1	154602	rs747726297	0.0007	0.0007	0.0005	0.0009	0.0034	0.0007	0.0007	0.0031	0.0029	4.264e-05	0.0001	0.0063	0	0	0.0007	0.0004	0.0014	0.0034	3.763e-05	0.0003	2.444e-05	5.152e-05	8.032e-05	9.99e-06	4.77e-06	2.129e-05	1.09e-05	0	0	0	0	0	0	0	8.032e-05	0	0	0.035	0.43708	D	0.112	0.37310	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.03	0.46777	T	-1.1	0.28497	N	0.019	0.00618	-1.0692	0.09590	T	0.057	0.24055	T	7	0.055978596	0.06203	T	0.012882	0.31834	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.0018607697187511334	0.00172	.	.	0.519302546978	0.41528	T	.	.	.	-0.32519	0.06481	T	-0.70489	0.05562	T	0.0232069504183903	0.01047	T	0.720928	0.33404	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26638	B	.;.	.;.	0.266663	0.06444	2.919	0.30910586073570662	0.01715	0.00752	0.03125	N	AEFBI	0.114220	0.22507	N	-0.993415001990743	0.08743	0.4111488	-1.165294542488	0.06497	0.3129581	1.16204050497744E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-0.880000	0.04291	-4.866000	0.01950	-1.782000	0.00650	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0E-4:1.0E-4:0.4478:0.552	3.255	0.06426	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	1749.1	193	chr3	195779375	.	T	C	1749.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.595e+00;DP=3487;ExcessHet=0.0000;FS=15.438;InbreedingCoeff=-0.0526;MLEAC=1;MLEAF=0.028;MQ=55.85;MQRankSum=-1.583e+01;QD=6.27;ReadPosRankSum=-2.100e-01;SOR=1.388	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,59:279:99:1|0:195779318_A_G:1762,0,9071:195779318	17	0	1	3
chr3	195779390	195779390	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12190A:p.P4064T,	.	.	455	1056	3	3	5	14	0.00424328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347	B	0.043	B	.	.	1.000	N	0.55	N	1.21	T	-1.050	T	0.047	T	0.05	-0.440	1.957	.	-0.417	-1.594	4.395	0.002	0.00216979468948	.	.	5.885e-05	0	0	0	0	0.0001	0	0	.	.	.	rs377680835	0.0006	0.0006	0.0005	0.0008	0.0032	0.0006	0.0006	0.0028	0.0027	0	9.694e-05	0.0059	0	0	0.0006	0.0004	0.0012	0.0032	3.747e-05	0.0002	2.434e-05	5.132e-05	8.215e-05	9.95e-06	4.76e-06	2.177e-05	1.103e-05	0	0	0	0	0	0	0	8.215e-05	0	0	0.01	0.56456	D	0.81	0.04079	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.21	0.39223	T	1.13	0.01949	N	0.017	0.00372	-1.0497	0.14481	T	0.047	0.20275	T	7	0.05192232	0.05146	T	0.00217	0.04071	T	0.002	0.00045	0.173	0.07894	0.0138822411134	0.00435	0.0015594181715905598	0.00143	.	.	0.556219995022	0.46734	T	.	.	.	-0.278186	0.10861	T	-0.637371	0.09863	T	0.0664544471469562	0.08144	T	0.813419	0.46649	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02458	B	.;.	.;.	0.653005	0.10212	6.953	0.80725508010237279	0.13339	0.00023	0.00238	N	AEFBI	0.040914	0.06150	N	-1.22252448038688	0.04675	0.2114811	-1.37461058520955	0.03525	0.1645831	1.93577006927337E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.208000	0.17212	-4.246000	0.02259	0.086000	0.17587	0.669000	0.28339	0.000000	0.08366	0.023000	0.12082	0.3325:0.0:0.6675:0.0	4.395	0.10790	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	1749.04	193	chr3	195779390	.	G	T	1749.04	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-6.450e-01;DP=3630;ExcessHet=0.0000;FS=13.954;InbreedingCoeff=-0.0811;MLEAC=1;MLEAF=0.031;MQ=56.33;MQRankSum=-1.557e+01;QD=6.36;ReadPosRankSum=4.00;SOR=1.404	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:216,59:275:99:1|0:195779318_A_G:1761,0,8917:195779318	15	0	1	5
chr3	195779392	195779392	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12188G:p.T4063S,	.	.	456	1055	3	3	5	14	0.00424729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.003	B	.	.	0.998	N	0.55	N	1.59	T	-1.006	T	0.040	T	0.084	0.146	4.783	.	0.488	0.775	6.707	0.024	0.00169975901753	.	.	5.896e-05	0	0	0	0	0.0002	0	0	.	.	.	rs549946968	0.0006	0.0006	0.0005	0.0007	0.0030	0.0006	0.0006	0.0027	0.0026	0	9.241e-05	0.0052	0	0	0.0006	0.0004	0.0011	0.0030	3.657e-05	0.0001	2.373e-05	5.014e-05	8.106e-05	9.71e-06	4.69e-06	2.149e-05	1.095e-05	0	0	0	0	0	0	0	8.106e-05	0	0	0.139	0.28646	T	0.257	0.23231	T	.	.	.	.	.	.	.	.	.	.	1	0.22150	N	.	.	.	1.59	0.31205	T	-0.52	0.18248	N	0.054	0.02559	-1.0065	0.28004	T	0.040	0.17191	T	7	0.053790867	0.05627	T	0.002	0.02830	T	0.024	0.04979	0.094	0.01195	0.0138822411134	0.00435	0.0020188336523209852	0.00186	.	.	0.523128151894	0.42066	T	.	.	.	-0.291532	0.09483	T	-0.656542	0.08502	T	0.0377629015682616	0.03290	T	0.466053	0.13673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26669	B	.;.	.;.	1.256625	0.16543	12.61	0.46672847949078178	0.03756	0.01261	0.04425	N	AEFBI	0.072068	0.14370	N	-1.18907812038378	0.05165	0.2347855	-1.29624405083705	0.04481	0.2114758	8.37637314344522E-5	0.04703	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.083000	0.11250	0.943000	0.22867	0.086000	0.17587	0.333000	0.25615	0.001000	0.17328	0.022000	0.11911	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1748.54	193	chr3	195779392	.	G	C	1748.54	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.27;DP=3632;ExcessHet=0.0000;FS=14.093;InbreedingCoeff=-0.0667;MLEAC=1;MLEAF=0.029;MQ=56.44;MQRankSum=-1.554e+01;QD=6.38;ReadPosRankSum=4.46;SOR=1.392	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,59:274:99:1|0:195779318_A_G:1761,0,8877:195779318	16	0	1	4
chr3	195779396	195779396	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G12184A:p.A4062T,	.	.	721	773	10	13	5	41	0.022756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	B	0.0	B	.	.	1.000	P	0.55	N	1.1	T	-1.022	T	0.049	T	0.041	-1.082	0.160	.	-0.417	-0.026	2.145	0.018	.	.	0.00658946	0.0004	0.0016	0	0.0122	0	0.0006	0	0	0.0087214	227	26028	rs1045994646	0.0023	0.0034	0.0020	0.0026	0.0070	0.0022	0.0021	0.0059	0.0057	0.0012	0.0023	0.0127	0.0070	0.0009	0.0018	0.0015	0.0033	0.0065	0.0005	0.0066	0.0005	0.0006	0.0018	0.0004	0.0003	0.0005	0.0003	0.0004	0	0.0002	0.0010	0	0.0010	0	0.0006	0	0.0018	0.381	0.11156	T	0.32	0.19421	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	1.09	0.39223	T	0.15	0.05310	N	0.027	0.01911	-1.0217	0.23162	T	0.049	0.20947	T	6	0.004883051	0.00104	T	.	.	.	0.018	0.03083	.	.	0.0138822411134	0.00435	8.859181890935445E-4	0.00081	.	.	0.561056256294	0.47417	T	.	.	.	-0.33961	0.05414	T	-0.725603	0.04530	T	0.00650792362145855	0.00073	T	0.644935	0.25655	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04356	B	.;.	.;.	-0.182403	0.03181	0.522	0.11935079734247947	0.00193	0.00048	0.00378	N	AEFBI	0.042374	0.06568	N	-1.28913511390244	0.03805	0.1706414	-1.40577124198539	0.03194	0.1484848	1.87232314028135E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.704000	0.05160	-4.490000	0.02130	-1.810000	0.00613	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.3304:0.3444:0.3251	2.145	0.03553	601	0.67921	.;.	.	.	.	.	.	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	0.1364	1870.85	193	chr3	195779396	.	C	T	1870.85	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-2.859e+00;DP=3676;ExcessHet=0.5115;FS=4.062;InbreedingCoeff=0.1600;MLEAC=5;MLEAF=0.227;MQ=57.91;MQRankSum=-1.311e+01;QD=2.58;ReadPosRankSum=3.40;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,59:278:99:1|0:195779318_A_G:1746,0,9049:195779318	8	0	3	10
chr3	195779399	195779399	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12181G:p.H4061D,	.	.	479	819	90	122	12	346	0.169371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	B	0.0	B	.	.	1.000	N	0.55	N	1.55	T	-1.006	T	0.036	T	0.079	-1.535	0.016	.	-0.833	-0.021	4.708	0.013	0.00218180284521	.	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0002	1.29e-05	2	154602	rs547257415	0.0006	0.0007	0.0004	0.0007	0.0030	0.0005	0.0005	0.0027	0.0026	4.2e-05	9.345e-05	0.0046	3.482e-05	0	0.0006	0.0004	0.0010	0.0030	3.88e-05	0.0004	2.522e-05	5.311e-05	8.501e-05	1.03e-05	4.86e-06	2.253e-05	1.224e-05	0	0	0	0	0	0	0	8.501e-05	0	0	1.0	0.00964	T	0.564	0.08991	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.49	0.31470	T	-0.08	0.10480	N	0.275	0.33578	-1.0061	0.28126	T	0.036	0.15422	T	7	0.036696404	0.01982	T	0.002182	0.04098	T	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021866061651874694	0.00202	.	.	0.568512201309	0.48467	T	.	.	.	-0.315178	0.07299	T	-0.690508	0.06360	T	0.0220143818898419	0.00910	T	0.528747	0.17479	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08802	B	.;.	.;.	1.068807	0.14510	11.08	0.47329398998956096	0.03861	0.00301	0.01603	N	AEFBI	0.072871	0.14556	N	-1.32045032849468	0.03442	0.1537419	-1.44176183161681	0.02845	0.1316572	1.19772475481673E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.326000	0.08008	-1.290000	0.05802	0.086000	0.17587	0.000000	0.06391	0.007000	0.19602	0.022000	0.11911	1.0E-4:0.0:0.6463:0.3536	4.708	0.12239	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.225	36608.93	193	chr3	195779399	.	GACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	G,CACCTGTGGATAATGAGGAAGCATTGGTGACAGGAAGAGGGGTGGTGTC	36608.93	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.51;DP=4301;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=57.38;MQRankSum=-7.921e+00;QD=16.79;ReadPosRankSum=0.561;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:329,0,59:388:99:.:.:4650,2393,15638,0,12981,12855	13	2	4	1
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	159.86	193	chr3	195779400	.	A	T,*	159.86	.	AC=2,9;AF=0.071,0.321;AN=28;BaseQRankSum=-3.875e+00;DP=4316;ExcessHet=1.5306;FS=0.000;InbreedingCoeff=0.0793;MLEAC=3,12;MLEAF=0.107,0.429;MQ=58.96;MQRankSum=-1.218e+01;QD=0.07;ReadPosRankSum=3.26;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:329,0,0:388:99:.:.:2257,1786,14921,0,13378,13245	5	0	2	7
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:220,0,59:279:99:1|0:195779318_A_G:4977,2397,11632,0,8958,8815:195779318	13	2	3	2
chr3	195779404	195779404	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12176G:p.T4059R,	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	B	0.007	B	.	.	1.000	N	0.55	N	1.17	T	-1.030	T	0.056	T	0.05	0.115	4.621	.	0.488	0.295	6.707	0.009	0.00182528942992	.	.	7.262e-05	0	0	0	0	0.0002	0	0	.	.	.	rs776979023	0.0009	0.0009	0.0007	0.0011	0.0040	0.0009	0.0009	0.0036	0.0035	0.0001	0.0001	0.0070	0	0	0.0009	0.0006	0.0016	0.0040	4.891e-05	0.0002	3.186e-05	6.678e-05	0.0001	1.298e-05	6.6e-06	3.471e-05	1.834e-05	0	0	0	0	0	0	0	0.0001	0	0	0.027	0.49613	D	0.119	0.36101	T	.	.	.	.	.	.	.	.	.	.	1	0.19363	N	.	.	.	1.12	0.38718	T	-0.72	0.20358	N	0.076	0.05037	-1.0299	0.20487	T	0.056	0.23639	T	7	0.042829275	0.03071	T	0.001825	0.03141	T	0.009	0.00846	0.264	0.20946	0.0401082797425	0.02173	0.010072051980256853	0.00969	.	.	0.559079825878	0.47139	T	.	.	.	-0.273447	0.11375	T	-0.630564	0.10373	T	0.0419996122301424	0.04055	T	0.784022	0.42156	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.30920	B	.;.	.;.	1.950288	0.24774	16.52	0.74889682782063816	0.10865	0.00529	0.02453	N	AEFBI	0.067654	0.13309	N	-1.1883514193745	0.05176	0.2353132	-1.30398640180941	0.04378	0.2063858	3.08878075065964E-5	0.03498	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	0.997000	0.29333	0.217000	0.16029	0.086000	0.17587	0.024000	0.20007	0.001000	0.17328	0.023000	0.12082	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.2105	2388.95	193	chr3	195779404	.	G	*,C	2388.95	.	AC=7,1;AF=0.184,0.026;AN=38;BaseQRankSum=-3.053e+00;DP=4001;ExcessHet=0.0354;FS=0.000;InbreedingCoeff=0.3277;MLEAC=8,1;MLEAF=0.211,0.026;MQ=56.64;MQRankSum=-1.569e+01;QD=1.40;ReadPosRankSum=6.49;SOR=0.690	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:220,0,59:279:99:1|0:195779318_A_G:4977,2397,11632,0,8958,8815:195779318	13	2	3	2
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2377.19	193	chr3	195779410	.	A	*,G	2377.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.77;DP=4183;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.71;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.26;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:222,0,59:281:99:1|0:195779318_A_G:4970,2386,11605,0,9052,8900:195779318	13	2	4	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2371.19	193	chr3	195779411	.	A	*,C	2371.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=3.15;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.575e+01;QD=1.14;ReadPosRankSum=7.43;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:222,0,59:281:99:1|0:195779318_A_G:4969,2380,11515,0,9047,8901:195779318	13	2	4	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:224,0,59:283:99:1|0:195779318_A_G:4963,2376,11555,0,9128,8985:195779318	13	2	4	1
chr3	195779418	195779418	-	GG	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.12161_12162insCC:p.S4055Lfs*205,	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.195e-05	0	0	0	0	0.0002	0	0	.	.	.	rs760455429	0.0011	0.0014	0.0008	0.0014	0.0041	0.0010	0.0010	0.0037	0.0035	0.0010	0.0002	0.0067	0.0001	6.627e-05	0.0009	0.0007	0.0018	0.0041	0.0004	0.0009	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0005	0	0	0	0	0	0	0.0004	0.0027	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779418	.	A	*,AGG	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.52;DP=4182;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.77;MQRankSum=-1.581e+01;QD=1.14;ReadPosRankSum=7.93;SOR=0.669	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:224,0,59:283:99:1|0:195779318_A_G:4963,2376,11555,0,9128,8985:195779318	13	2	4	1
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:232,0,59:291:99:1|0:195779318_A_G:4939,2376,11891,0,9464,9321:195779318	13	2	4	1
chr3	195779421	195779422	AT	-	exonic;splicing	MUC4;MUC4	NM_001322468:exon17:r.spl	frameshift deletion	MUC4:NM_018406:exon2:c.12158_12159del:p.N4053Sfs*24,	.	.	537	766	92	121	6	340	0.178992	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0321	.	0.0002	0.0007	0	0	0	0.0002	0	0	.	.	.	rs749974981	0.0014	0.0014	0.0011	0.0017	0.0050	0.0013	0.0013	0.0045	0.0043	0.0013	0.0003	0.0108	0.0002	9.483e-05	0.0012	0.0009	0.0024	0.0050	0.0008	0.0015	0.0008	0.0007	0.0011	0.0005	0.0004	0.0006	0.0004	0.0011	0	0	0	0	0	0	0.0009	0.0049	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.15	193	chr3	195779420	.	CAT	*,C	2367.15	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=1.02;DP=4192;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.85;MQRankSum=-1.604e+01;QD=1.13;ReadPosRankSum=7.58;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:232,0,59:291:99:1|0:195779318_A_G:4939,2376,11891,0,9464,9321:195779318	13	2	4	1
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:229,0,59:288:99:1|0:195779318_A_G:4948,2376,11765,0,9338,9195:195779318	13	2	4	1
chr3	195779431	195779431	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C12149A:p.P4050H	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	B	0.018	B	.	.	1.000	N	0.55	N	1.36	T	-1.020	T	0.047	T	0.061	0.033	4.183	.	0.488	-2.428	6.707	0.007	0.00258057017812	.	.	0.0021	0.0021	0	0	0	0.0008	0	0.0039	0.0001537	4	26028	rs1480550642	0.0014	0.0013	0.0011	0.0018	0.0074	0.0014	0.0013	0.0059	0.0057	0.0014	0.0005	0.0098	0	3.45e-05	0.0074	0.0008	0.0021	0.0064	0.0011	0.0013	0.0013	0.0009	0.0051	0.0009	0.0008	0.0029	0.0022	0.0012	0	0.0006	0.0039	0	0	0	0.0011	0	0.0051	0.012	0.54683	D	0.122	0.35970	T	.	.	.	.	.	.	.	.	.	.	1	0.18612	N	.	.	.	1.31	0.35405	T	0.9	0.01787	N	0.056	0.02759	-1.0196	0.23845	T	0.047	0.20235	T	7	0.0064422786	0.00146	T	0.002581	0.05206	T	0.007	0.00512	.	.	0.0138822411134	0.00435	0.004172141456176176	0.00391	.	.	0.549387454987	0.45772	T	.	.	.	-0.287244	0.09915	T	-0.650382	0.08927	T	0.00760233881679783	0.00088	T	0.528347	0.17454	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.33732	B	.;.	.;.	2.089554	0.26580	17.17	0.83398739857595916	0.14704	0.00137	0.00841	N	AEFI	0.045525	0.07454	N	-1.25857930923118	0.04188	0.1885301	-1.38017546312345	0.03463	0.1616229	3.49615975115454E-5	0.03775	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	.	.	.	-0.111000	0.10778	0.000000	0.13247	0.086000	0.17587	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	2.0E-4:0.0:0.9998:0.0	6.707	0.22443	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	2367.19	193	chr3	195779431	.	G	*,T	2367.19	.	AC=8,1;AF=0.200,0.025;AN=40;BaseQRankSum=-4.960e-01;DP=4177;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.2832;MLEAC=8,1;MLEAF=0.200,0.025;MQ=56.82;MQRankSum=-1.595e+01;QD=1.14;ReadPosRankSum=6.18;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:229,0,59:288:99:1|0:195779318_A_G:4948,2376,11765,0,9338,9195:195779318	13	2	4	1
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:266,0,59:325:99:1|0:195779318_A_G:4837,2376,12783,0,10368,10238:195779318	13	2	3	1
chr3	195779444	195779444	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A12136G:p.T4046A	.	.	504	767	103	128	20	379	0.189646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.414	B	0.039	B	0.380	N	1.000	N	0.55	N	1.64	T	-1.044	T	0.031	T	0.04	0.334	5.814	0.613	0.522	0.338	3.482	0.013	.	.	0.112021	0.0077	0.0014	0.0112	0.0580	0.0013	0.0092	0	0.0064	0.0053557	828	154602	rs62282465	0.0047	0.0064	0.0042	0.0052	0.0253	0.0046	0.0045	0.0229	0.0220	0.0027	0.0042	0.0154	0.0253	0.0049	0.0090	0.0034	0.0065	0.0109	0.0014	0.0045	0.0013	0.0016	0.0029	0.0011	0.0010	0.0022	0.0020	0.0029	0	0.0012	0	0.0011	0.0009	0	0.0006	0.0020	0	0.626	0.05214	T	0.108	0.37730	T	.	.	.	.	.	.	0.380396	0.13397	N	0.326178	1	0.08975	N	.	.	.	1.55	0.29866	T	-0.58	0.23156	N	0.034	0.01421	-1.0441	0.16089	T	0.031	0.13504	T	9	0.0028693974	0.00046	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.0021228600466568154	0.00196	.	.	0.553730368614	0.46383	T	.	.	.	-0.697436	0.00038	T	-0.745319	0.03671	T	0.00237689495200028	0.00025	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.04889	B	.;.	.;.	0.837442	0.12093	8.643	0.76492952725263341	0.11490	0.00494	0.02336	N	AEFI	0.061456	0.11751	N	-1.04182487498206	0.07748	0.3609991	-1.16911237340214	0.06431	0.3095628	1.23786745538616E-5	0.02871	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	0.613	0.613	0.16773	-0.356000	0.07711	-0.898000	0.07002	0.085000	0.17582	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	1.0E-4:0.0:0.427:0.5729	3.482	0.07171	601	0.67921	.;.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.225	7517.42	193	chr3	195779444	.	T	*,C	7517.42	.	AC=8,2;AF=0.200,0.050;AN=40;BaseQRankSum=2.08;DP=4116;ExcessHet=0.0120;FS=0.515;InbreedingCoeff=0.4558;MLEAC=8,2;MLEAF=0.200,0.050;MQ=56.17;MQRankSum=-1.262e+01;QD=3.54;ReadPosRankSum=3.57;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:266,0,59:325:99:1|0:195779318_A_G:4837,2376,12783,0,10368,10238:195779318	13	2	3	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	7448.07	193	chr3	195779447	.	C	G,*	7448.07	.	AC=3,8;AF=0.075,0.200;AN=40;BaseQRankSum=1.25;DP=4112;ExcessHet=0.0419;FS=0.515;InbreedingCoeff=0.3622;MLEAC=3,8;MLEAF=0.075,0.200;MQ=55.88;MQRankSum=1.93;QD=3.49;ReadPosRankSum=2.57;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,59,0:319:99:1|0:195779318_A_G:4855,0,9960,2372,10085,12496:195779318	12	0	2	1
chr3	195780215	195780215	C	0	exonic	MUC4	.	.	.	.	.	2	157	43	0	24	67	0.120448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	424.47	497	chr3	195780215	.	C	G,*	424.47	.	AC=1,5;AF=0.028,0.139;AN=36;BaseQRankSum=-2.227e+00;DP=10160;ExcessHet=0.1217;FS=18.125;InbreedingCoeff=0.1067;MLEAC=1,6;MLEAF=0.028,0.167;MQ=54.84;MQRankSum=-1.380e+00;QD=0.31;ReadPosRankSum=-1.645e+00;SOR=1.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:279,30,49:358:99:0|1:195780206_G_A:1212,824,12348,0,10398,11594:195780206	13	0	0	3
chr3	195780494	195780494	G	0	exonic	MUC4	.	.	.	.	.	694	424	90	25	289	429	0.1417	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5548.65	401	chr3	195780494	.	G	*,A	5548.65	.	AC=7,1;AF=0.350,0.050;AN=20;BaseQRankSum=5.01;DP=8569;ExcessHet=1.8394;FS=1.262;InbreedingCoeff=0.0278;MLEAC=12,2;MLEAF=0.600,0.100;MQ=54.69;MQRankSum=-3.824e+00;QD=1.83;ReadPosRankSum=9.34;SOR=0.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,215,0:466:99:0|1:195780492_AGGGGTGGCCT_A:7305,0,9789,8060,10392,18452:195780492	3	1	5	11
chr3	195780499	195780499	G	0	exonic	MUC4	.	.	.	.	.	0	114	53	2	57	114	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	55203.73	406	chr3	195780499	.	G	A,*	55203.73	.	AC=12,7;AF=0.300,0.175;AN=40;BaseQRankSum=-3.310e-01;DP=8546;ExcessHet=0.5442;FS=0.529;InbreedingCoeff=0.0726;MLEAC=12,7;MLEAF=0.300,0.175;MQ=54.22;MQRankSum=-2.440e-01;QD=9.13;ReadPosRankSum=-4.044e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:251,0,215:466:99:0|1:195780492_AGGGGTGGCCT_A:7305,8060,18452,0,10392,9789:195780492	6	1	7	1
chr3	195780501	195780501	C	0	exonic	MUC4	.	.	.	.	.	741	294	218	40	229	527	0.336343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	51505.37	393	chr3	195780501	.	C	*,G	51505.37	.	AC=7,10;AF=0.233,0.333;AN=30;BaseQRankSum=-5.880e-01;DP=8384;ExcessHet=0.9330;FS=0.000;InbreedingCoeff=0.1350;MLEAC=9,13;MLEAF=0.300,0.433;MQ=54.00;MQRankSum=-3.340e-01;QD=9.32;ReadPosRankSum=-1.345e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:251,215,0:466:99:0|1:195780492_AGGGGTGGCCT_A:7305,0,9789,8060,10392,18452:195780492	3	1	2	6
chr3	195780510	195780510	G	0	exonic	MUC4	.	.	.	.	.	1	126	41	1	57	100	0.145763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	36875.28	349	chr3	195780510	.	G	A,*	36875.28	.	AC=9,5;AF=0.265,0.147;AN=34;BaseQRankSum=0.680;DP=8180;ExcessHet=0.1645;FS=1.137;InbreedingCoeff=0.2695;MLEAC=11,6;MLEAF=0.324,0.176;MQ=53.29;MQRankSum=3.36;QD=8.07;ReadPosRankSum=-2.570e+00;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:317,0,202:519:99:0|1:195780492_AGGGGTGGCCT_A:7191,8143,21262,0,13119,12521:195780492	7	2	3	4
chr3	195780514	195780514	G	0	exonic	MUC4	.	.	.	.	.	30	98	40	1	57	99	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	22106.14	349	chr3	195780514	.	G	*,A	22106.14	.	AC=7,7;AF=0.233,0.233;AN=30;BaseQRankSum=0.605;DP=8615;ExcessHet=0.3357;FS=1.883;InbreedingCoeff=0.2178;MLEAC=9,9;MLEAF=0.300,0.300;MQ=53.69;MQRankSum=2.63;QD=4.78;ReadPosRankSum=-2.700e+00;SOR=0.562	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,202,0:519:99:0|1:195780492_AGGGGTGGCCT_A:7191,0,12521,8143,13119,21262:195780492	5	1	3	6
chr3	195780525	195780527	GTC	0	exonic	MUC4	.	.	.	.	.	583	681	21	3	234	261	0.0194384	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	5946.85	349	chr3	195780525	.	GTC	*,G	5946.85	.	AC=9,2;AF=0.321,0.071;AN=28;BaseQRankSum=-5.320e-01;DP=7947;ExcessHet=0.0073;FS=2.130;InbreedingCoeff=0.4634;MLEAC=13,3;MLEAF=0.464,0.107;MQ=52.96;MQRankSum=5.01;QD=1.90;ReadPosRankSum=1.98;SOR=0.532	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,202,0:519:99:0|1:195780492_AGGGGTGGCCT_A:7191,0,12521,8143,13119,21262:195780492	7	3	3	7
chr3	195780526	195780529	TCCG	0	exonic	MUC4	.	.	.	.	.	603	642	21	1	255	278	0.0175976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	5700.23	349	chr3	195780526	.	TCCG	*,T	5700.23	.	AC=11,1;AF=0.423,0.038;AN=26;BaseQRankSum=2.59;DP=7969;ExcessHet=0.0661;FS=2.096;InbreedingCoeff=0.3651;MLEAC=16,1;MLEAF=0.615,0.038;MQ=52.99;MQRankSum=5.89;QD=1.65;ReadPosRankSum=2.36;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,202,0:519:99:0|1:195780492_AGGGGTGGCCT_A:7191,0,12521,8143,13119,21262:195780492	5	4	3	8
chr3	195780530	195780623	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	570	703	20	0	229	249	0.0140252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	5271.15	349	chr3	195780530	.	TGACAGGAAGACGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGCGTC	T,*	5271.15	.	AC=1,3;AF=0.056,0.167;AN=18;BaseQRankSum=3.31;DP=7644;ExcessHet=1.8123;FS=1.101;InbreedingCoeff=0.1822;MLEAC=2,6;MLEAF=0.111,0.333;MQ=52.75;MQRankSum=-3.954e+00;QD=2.95;ReadPosRankSum=-3.480e+00;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:317,0,202:519:99:0|1:195780492_AGGGGTGGCCT_A:7191,8143,21262,0,13119,12521:195780492	5	0	1	12
chr3	195780562	195780562	G	0	exonic	MUC4	.	.	.	.	.	634	632	242	5	9	261	0.166227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	950.16	349	chr3	195780562	.	G	*,A	950.16	.	AC=4,1;AF=0.250,0.063;AN=16;BaseQRankSum=-1.598e+00;DP=7247;ExcessHet=2.8389;FS=0.524;InbreedingCoeff=0.0278;MLEAC=8,2;MLEAF=0.500,0.125;MQ=52.35;MQRankSum=5.43;QD=0.47;ReadPosRankSum=4.24;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,192,3:362:99:0|1:195780541_C_*:7506,0,6312,7895,6651,14622:195780541	3	0	4	13
chr3	195780575	195780575	C	0	exonic	MUC4	.	.	.	.	.	839	407	22	0	254	276	0.0263158	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	12264.56	349	chr3	195780575	.	C	*,T	12264.56	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=0.071;DP=7349;ExcessHet=6.0611;FS=0.558;InbreedingCoeff=-0.0832;MLEAC=10,2;MLEAF=0.500,0.100;MQ=51.21;MQRankSum=8.32;QD=3.68;ReadPosRankSum=3.24;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:147,192,3:342:99:0|1:195780541_C_*:7561,0,5612,7898,6014,13999:195780541	3	0	6	11
chr3	195780620	195780620	C	0	exonic	MUC4	.	.	.	.	.	808	314	377	7	16	407	0.38371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	185617.17	454	chr3	195780620	.	C	T,*	185617.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.26;DP=8709;ExcessHet=23.1855;FS=1.891;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.79;MQRankSum=6.09;QD=25.34;ReadPosRankSum=-4.997e+00;SOR=0.543	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:150,200,0:350:99:0|1:195780492_AGGGGTGGCCT_A:7484,0,5522,7935,6112,14048:195780492	3	0	14	3
chr3	195780623	195780623	C	0	exonic	MUC4	.	.	.	.	.	801	322	379	4	16	403	0.375364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	180902.17	451	chr3	195780623	.	C	T,*	180902.17	.	AC=14,1;AF=0.389,0.028;AN=36;BaseQRankSum=7.87;DP=8655;ExcessHet=23.1855;FS=2.624;InbreedingCoeff=-0.6027;MLEAC=16,1;MLEAF=0.444,0.028;MQ=48.54;MQRankSum=5.61;QD=25.01;ReadPosRankSum=-4.462e+00;SOR=0.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,199,0:344:99:0|1:195780492_AGGGGTGGCCT_A:7445,0,5313,7881,5894,13775:195780492	3	0	14	3
chr3	195781220	195781220	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	54979.33	431	chr3	195781220	.	T	C,*	54979.33	.	AC=9,1;AF=0.250,0.028;AN=36;BaseQRankSum=-1.386e+00;DP=9310;ExcessHet=0.2410;FS=0.000;InbreedingCoeff=0.1444;MLEAC=10,1;MLEAF=0.278,0.028;MQ=59.26;MQRankSum=4.32;QD=12.97;ReadPosRankSum=0.556;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:237,489,0:726:99:.:.:13412,0,5157,14926,7115,25533	10	2	5	3
chr3	195781532	195781532	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A10048G:p.T3350A	.	.	431	1085	3	0	3	6	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	B	0.004	B	.	.	0.982	N	0	N	1.54	T	-1.008	T	0.027	T	0.036	0.412	6.240	-2.05	-0.835	-4.603	1.494	0.009	0.000725946276263	.	.	0.0010	0.0019	0	0	0	0.0007	0	0.0015	0.0001488	23	154602	rs867758585	0.0001	0.0012	0.0001	0.0001	0.0009	0.0001	0.0001	0.0006	0.0005	0.0009	0.0002	0.0006	2.991e-05	0	0	9.244e-05	0.0003	0.0005	0.0005	0.0018	0.0005	0.0004	0.0011	0.0004	0.0003	0.0008	0.0007	0.0011	0.0024	7.614e-05	0.0013	0.0005	0.0001	0	0.0002	0.0006	0.0005	0.314	0.13834	T	0.06	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.24980	N	.	.	.	1.48	0.31731	T	-0.15	0.12283	N	0.019	0.01068	-1.0084	0.27416	T	0.027	0.11441	T	8	0.013838172	0.00292	T	7.26E-4	0.00472	T	0.009	0.00846	0.17	0.07536	0.0138822411134	0.00435	0.0021138951032212017	0.00195	.	.	0.448088556528	0.31683	T	.	.	.	-0.407904	0.02052	T	-0.823703	0.01379	T	0.0101871406395545	0.00138	T	0.451055	0.12757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.05060	B	.;.	.;.	-0.133928	0.03444	0.634	0.6098911255849867	0.06598	0.00081	0.00551	N	AEFBI	0.048871	0.08385	N	-1.53079940919829	0.01650	0.0721803	-1.63912756346584	0.01433	0.06479881	1.89733686392635E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	-2.05	0.06916	-5.582000	0.00134	-3.256000	0.02930	-1.846000	0.00576	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3112:0.2552:0.0:0.4337	1.494	0.02314	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.025	992.33	461	chr3	195781532	.	T	C	992.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-9.880e-01;DP=9385;ExcessHet=0.0000;FS=25.929;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.31;MQRankSum=-1.424e+01;QD=1.41;ReadPosRankSum=-3.841e+00;SOR=2.533	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:625,78:703:99:0|1:195781532_T_C:1006,0,25602:195781532	19	0	1	1
chr3	195781543	195781543	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10037T:p.P3346L	.	.	434	1074	8	0	6	14	0.00371058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.972	D	.	.	0.977	N	0.55	N	1.53	T	-1.037	T	0.086	T	0.191	0.535	6.897	1.03	0.494	0.798	7.588	0.036	.	.	0.00698882	0.0008	0	0	0	0	0.0008	0	0.0012	0.0013447	35	26028	rs879761890	4.884e-05	0.0007	4.984e-05	4.781e-05	0.0004	3.831e-05	3.503e-05	0.0002	0.0002	0.0002	0	0.0001	0.0004	0	0	2.839e-05	0.0002	4.234e-05	0.0002	0.0010	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0.0011	0.0001	0.0009	0	0	0	0.0002	0	0.0002	0.665	0.31383	T	0.122	0.35840	T	.	.	.	.	.	.	.	.	.	.	1	0.25345	N	.	.	.	1.47	0.31987	T	-1.13	0.29933	N	0.131	0.12627	-1.0370	0.18233	T	0.086	0.33522	T	8	0.0051679015	0.00112	T	.	.	.	0.036	0.09122	.	.	0.218845423259	0.21516	0.0020738489350019015	0.00192	.	.	0.483528077602	0.36542	T	.	.	.	-0.243883	0.14857	T	-0.588097	0.13831	T	0.0705799747923548	0.08732	T	0.69863	0.30863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17657	B	.;.	.;.	1.897897	0.24102	16.27	0.74117152090629812	0.10576	0.00893	0.03509	N	AEFBI	0.071891	0.14328	N	-0.569821765808249	0.19867	1.043086	-0.822359589483566	0.13954	0.726643	3.68951057704334E-5	0.03775	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.03	1.03	0.19161	0.680000	0.24986	0.730000	0.21079	0.093000	0.17603	0.024000	0.20007	0.004000	0.18990	0.012000	0.09680	0.0:0.0:1.0:0.0	7.588	0.27174	601	0.67921	.;.	.	.	.	.	.	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	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:620,57,0:677:99:0|1:195781532_T_C:484,0,25504,2342,25675,28017:195781532	13	0	1	2
chr3	195781543	195781543	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	471.15	461	chr3	195781543	.	G	A,*	471.15	.	AC=1,5;AF=0.026,0.132;AN=38;BaseQRankSum=4.39;DP=9702;ExcessHet=1.8958;FS=7.620;InbreedingCoeff=-0.1940;MLEAC=1,5;MLEAF=0.026,0.132;MQ=59.22;MQRankSum=-1.633e+01;QD=0.13;ReadPosRankSum=-4.132e+00;SOR=1.560	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:620,57,0:677:99:0|1:195781532_T_C:484,0,25504,2342,25675,28017:195781532	13	0	1	2
chr3	195781545	195781545	C	0	exonic	MUC4	.	.	.	.	.	447	984	72	8	11	99	0.0428016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	214.85	461	chr3	195781545	.	C	*,A	214.85	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=0.229;DP=9525;ExcessHet=2.7391;FS=7.747;InbreedingCoeff=-0.2163;MLEAC=5,1;MLEAF=0.132,0.026;MQ=58.15;MQRankSum=-1.237e+01;QD=0.06;ReadPosRankSum=-2.465e+00;SOR=1.629	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:611,0,49:660:99:0|1:195781532_T_C:227,2058,27379,0,25322,25174:195781532	12	0	5	2
chr3	195781547	195781547	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	199.21	461	chr3	195781547	.	C	G,*	199.21	.	AC=2,5;AF=0.056,0.139;AN=36;BaseQRankSum=-4.040e-01;DP=9369;ExcessHet=2.7391;FS=9.360;InbreedingCoeff=-0.2500;MLEAC=2,6;MLEAF=0.056,0.167;MQ=57.24;MQRankSum=-1.314e+01;QD=0.06;ReadPosRankSum=-4.481e+00;SOR=1.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:604,47,0:651:99:0|1:195781532_T_C:164,0,24897,1974,25039,27012:195781532	11	0	2	3
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.725	58454.87	402	chr3	195781628	.	C	T,*	58454.87	.	AC=10,20;AF=0.250,0.500;AN=40;BaseQRankSum=2.39;DP=7718;ExcessHet=6.5132;FS=0.581;InbreedingCoeff=-0.3333;MLEAC=10,21;MLEAF=0.250,0.525;MQ=55.94;MQRankSum=-1.348e+00;QD=8.67;ReadPosRankSum=0.131;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,521,0:521:99:.:.:22416,1566,0,22416,1566,22416	0	3	3	1
chr3	195781639	195781639	A	0	exonic	MUC4	.	.	.	.	.	521	546	50	5	400	460	0.0520833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8196.5	402	chr3	195781639	.	A	T,*	8196.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-1.301e+00;DP=5813;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=56.14;MQRankSum=-9.244e+00;QD=3.89;ReadPosRankSum=-1.029e+00;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,229,0:501:99:0|1:195781639_A_T:8203,0,10572,9021,11259,20280:195781639	3	0	1	12
chr3	195781645	195781645	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9935A:p.P3312H,	.	.	536	587	364	31	4	430	0.26625	.	.	2840494	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.969	D	0.707	P	.	.	1.000	N	0.55	N	1.5	T	-1.044	T	0.056	T	0.065	0.255	5.379	-1.49	0.088	-1.535	3.617	0.028	.	.	0.00299521	0.0087	0	0.0068	0	0	0.0099	0	0.0117	0.0005886	91	154602	rs62282476	0.0087	0.0069	0.0083	0.0092	0.0137	0.0085	0.0084	0.0125	0.0120	0.0016	0.0008	0.0433	0	0	0.0088	0.0087	0.0111	0.0137	0.0022	0.0024	0.0023	0.0022	0.0088	0.0019	0.0018	0.0058	0.0049	0.0004	0.0185	0.0008	0.0177	0	0	0	0.0030	0.0019	0.0088	0.001	0.78490	D	0.065	0.44905	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.5	0.31205	T	-0.55	0.21644	N	0.075	0.04913	-1.0436	0.16236	T	0.056	0.23488	T	8	0.0050420463	0.00109	T	.	.	.	0.028	0.06331	.	.	0.0401082797425	0.02173	0.006791750257993445	0.00646	.	.	0.461181938648	0.33473	T	.	.	.	-0.319438	0.06943	T	-0.696627	0.06012	T	0.0200654981272231	0.00707	T	0.79532	0.43818	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.34361	B	.;.	.;.	1.995519	0.25356	16.73	0.87079188851090572	0.16974	0.00182	0.01064	N	AEFBI	0.056229	0.10378	N	-0.819753390612407	0.12806	0.6266146	-1.08128031475341	0.08069	0.3951516	1.5455898311315E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	-1.49	0.08259	-0.147000	0.10218	0.176000	0.15576	0.178000	0.17791	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4971:0.5029:0.0	3.617	0.07624	601	0.67921	.;.	.	.	.	.	.	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	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:228,268,0:496:99:.:.:10005,0,8150,10689,8956,19644	3	0	1	13
chr3	195781645	195781645	G	0	exonic	MUC4	.	.	.	.	.	536	587	364	31	4	430	0.26625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	9999.09	402	chr3	195781645	.	G	T,*	9999.09	.	AC=1,5;AF=0.063,0.313;AN=16;BaseQRankSum=-3.990e-01;DP=5790;ExcessHet=0.4981;FS=0.000;InbreedingCoeff=0.1231;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.29;MQRankSum=12.92;QD=5.33;ReadPosRankSum=1.70;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:228,268,0:496:99:.:.:10005,0,8150,10689,8956,19644	3	0	1	13
chr3	195781647	195781647	A	0	exonic	MUC4	.	.	.	.	.	611	468	62	7	374	450	0.0750988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	8091.5	402	chr3	195781647	.	A	G,*	8091.5	.	AC=1,6;AF=0.056,0.333;AN=18;BaseQRankSum=-9.110e-01;DP=5805;ExcessHet=1.1475;FS=1.742;InbreedingCoeff=0.0793;MLEAC=2,11;MLEAF=0.111,0.611;MQ=55.79;MQRankSum=-9.225e+00;QD=3.82;ReadPosRankSum=-1.318e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:280,228,0:508:99:0|1:195781639_A_T:8098,0,10894,8940,11578,20518:195781639	3	0	1	12
chr3	195781666	195781666	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6369.68	402	chr3	195781666	.	A	*,G	6369.68	.	AC=6,1;AF=0.300,0.050;AN=20;BaseQRankSum=1.86;DP=5542;ExcessHet=1.1475;FS=3.216;InbreedingCoeff=0.1231;MLEAC=10,2;MLEAF=0.500,0.100;MQ=54.75;MQRankSum=-7.719e+00;QD=3.17;ReadPosRankSum=-7.700e-01;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:254,0,193:447:99:0|1:195781639_A_T:6377,7141,17388,0,10247,9672:195781639	4	1	4	11
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1756.67	235	chr3	195781829	.	C	T,*	1756.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-5.383e+00;DP=3592;ExcessHet=15.6281;FS=2.445;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=41.70;MQRankSum=-4.776e+00;QD=0.57;ReadPosRankSum=1.90;SOR=0.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:120,62,0:182:99:.:.:1769,0,2685,2048,2871,4920	6	0	1	1
chr3	195782507	195782507	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	3617.11	473	chr3	195782507	.	G	C,*	3617.11	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.608;DP=8469;ExcessHet=0.1022;FS=1.731;InbreedingCoeff=0.2832;MLEAC=1,8;MLEAF=0.025,0.200;MQ=55.87;MQRankSum=-1.046e+01;QD=1.40;ReadPosRankSum=1.53;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:305,0,198:503:99:0|1:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:6941,7875,20572,0,12697,12076:195782475	13	0	1	1
chr3	195782517	195782517	G	0	exonic	MUC4	.	.	.	.	.	464	935	5	4	114	127	0.00690388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2353	782.1	473	chr3	195782517	.	G	A,*	782.1	.	AC=1,7;AF=0.029,0.206;AN=34;BaseQRankSum=2.28;DP=8484;ExcessHet=0.0354;FS=1.107;InbreedingCoeff=0.2407;MLEAC=1,8;MLEAF=0.029,0.235;MQ=52.14;MQRankSum=-7.400e+00;QD=0.36;ReadPosRankSum=3.01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:305,0,198:503:99:0|1:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:6941,7875,20572,0,12697,12076:195782475	11	0	1	4
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3667	57440.95	642	chr3	195782558	.	A	G,*	57440.95	.	AC=9,4;AF=0.300,0.133;AN=30;BaseQRankSum=-2.341e+00;DP=9169;ExcessHet=0.9330;FS=0.571;InbreedingCoeff=0.1246;MLEAC=12,5;MLEAF=0.400,0.167;MQ=56.40;MQRankSum=-5.591e+00;QD=11.79;ReadPosRankSum=1.28;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:225,243,0:468:99:1|0:195782475_GGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCT_G:6238,0,7887,6916,8616,15532:195782475	5	1	5	6
chr3	195782946	195782946	G	0	exonic	MUC4	.	.	.	.	.	509	947	38	4	24	70	0.0237113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1111	3805.22	528	chr3	195782946	.	G	*,A	3805.22	.	AC=1,1;AF=0.056,0.056;AN=18;BaseQRankSum=-1.966e+00;DP=10786;ExcessHet=0.1128;FS=5.738;InbreedingCoeff=-0.2308;MLEAC=2,2;MLEAF=0.111,0.111;MQ=55.77;MQRankSum=2.60;QD=7.23;ReadPosRankSum=7.98;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:251,0,115:366:99:0|1:195782913_C_T:3813,4292,14766,0,8754,9914:195782913	7	0	1	12
chr3	195782949	195782949	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6111	89047.24	581	chr3	195782949	.	A	G,*	89047.24	.	AC=11,1;AF=0.611,0.056;AN=18;BaseQRankSum=0.195;DP=11733;ExcessHet=5.3821;FS=0.000;InbreedingCoeff=0.0111;MLEAC=20,2;MLEAF=1.00,0.111;MQ=56.70;MQRankSum=-8.626e+00;QD=21.07;ReadPosRankSum=0.379;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,412,0:412:99:1|1:195782913_C_T:14540,1263,0,13198,1442,15121:195782913	0	2	6	12
chr3	195782990	195782990	A	0	exonic	MUC4	.	.	.	.	.	482	988	29	6	17	58	0.0203272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5209.43	568	chr3	195782990	.	A	G,*	5209.43	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=-8.000e-03;DP=9903;ExcessHet=0.3672;FS=4.247;InbreedingCoeff=-0.1947;MLEAC=2,4;MLEAF=0.111,0.222;MQ=55.34;MQRankSum=0.946;QD=5.26;ReadPosRankSum=9.61;SOR=0.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,188,0:391:99:0|1:195782913_C_T:5969,0,6978,5209,7592,13616:195782913	6	0	1	12
chr3	195783068	195783068	G	0	exonic	MUC4	.	.	.	.	.	442	900	103	29	48	209	0.082101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3214	13824.02	469	chr3	195783068	.	G	T,*	13824.02	.	AC=6,3;AF=0.214,0.107;AN=28;BaseQRankSum=1.62;DP=9197;ExcessHet=5.7770;FS=6.457;InbreedingCoeff=-0.2980;MLEAC=8,4;MLEAF=0.286,0.143;MQ=56.56;MQRankSum=-1.160e+01;QD=4.34;ReadPosRankSum=-2.209e+00;SOR=1.099	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:226,83,0:309:99:0|1:195783068_G_T:2768,0,9200,3450,9450,12900:195783068	5	0	6	7
chr3	195783070	195783070	A	0	exonic	MUC4	.	.	.	.	.	2	173	30	8	13	59	0.117347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	14051.12	468	chr3	195783070	.	A	C,*	14051.12	.	AC=6,4;AF=0.200,0.133;AN=30;BaseQRankSum=1.87;DP=9244;ExcessHet=6.9875;FS=3.367;InbreedingCoeff=-0.3690;MLEAC=8,5;MLEAF=0.267,0.167;MQ=56.95;MQRankSum=-9.607e+00;QD=3.58;ReadPosRankSum=-2.103e+00;SOR=0.952	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,83,0:320:99:0|1:195783068_G_T:2737,0,9586,3450,9836,13286:195783068	5	0	6	6
chr3	195783071	195783119	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	0	exonic	MUC4	.	.	.	.	.	430	1001	39	9	43	100	0.0276833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	7527.28	575	chr3	195783071	.	TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC	*,T	7527.28	.	AC=4,2;AF=0.133,0.067;AN=30;BaseQRankSum=-6.540e-01;DP=9679;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.0911;MLEAC=5,3;MLEAF=0.167,0.100;MQ=57.61;MQRankSum=-9.008e+00;QD=2.31;ReadPosRankSum=2.20;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:81,0,188:269:99:0|1:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:7105,7349,10732,0,3383,2796:195783071	9	0	4	6
chr3	195783084	195783084	A	0	exonic	MUC4	.	.	.	.	.	29	112	61	14	10	99	0.284345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	76734.88	472	chr3	195783084	.	A	C,*	76734.88	.	AC=14,3;AF=0.368,0.079;AN=38;BaseQRankSum=-3.116e+00;DP=9201;ExcessHet=0.8299;FS=0.000;InbreedingCoeff=0.0328;MLEAC=15,3;MLEAF=0.395,0.079;MQ=57.96;MQRankSum=-8.050e-01;QD=13.77;ReadPosRankSum=-5.900e-01;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:81,0,188:269:99:0|1:195783071_TGGTGACAGGAAGAGAGGTGGCATGACCTGTGAACACTGAGGAAGCGTC_T:7105,7349,10732,0,3383,2796:195783071	6	2	8	2
chr3	195783086	195783086	A	0	exonic	MUC4	.	.	.	.	.	490	879	93	33	27	186	0.0829421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	10418.23	479	chr3	195783086	.	A	*,G	10418.23	.	AC=5,7;AF=0.179,0.250;AN=28;BaseQRankSum=0.783;DP=8967;ExcessHet=1.0583;FS=3.282;InbreedingCoeff=-0.1323;MLEAC=7,9;MLEAF=0.250,0.321;MQ=57.34;MQRankSum=-1.078e+01;QD=2.74;ReadPosRankSum=-4.326e+00;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,185,57:242:99:0|1:195783068_G_T:9619,2339,1773,7353,0,8375:195783068	4	0	4	7
chr3	195783103	195783103	A	0	exonic	MUC4	.	.	.	.	.	690	605	177	26	24	253	0.159138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	4587.88	506	chr3	195783103	.	A	G,*	4587.88	.	AC=6,4;AF=0.300,0.200;AN=20;BaseQRankSum=4.06;DP=8924;ExcessHet=0.4906;FS=4.240;InbreedingCoeff=-0.0371;MLEAC=10,6;MLEAF=0.500,0.300;MQ=58.00;MQRankSum=-1.052e+01;QD=1.60;ReadPosRankSum=-4.436e+00;SOR=0.851	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,41,185:226:99:0|1:195783068_G_T:8992,7335,7542,1721,0,1165:195783068	2	1	3	11
chr3	195783105	195783105	C	0	exonic	MUC4	.	.	.	.	.	522	914	37	26	23	112	0.0464267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2897.01	506	chr3	195783105	.	C	T,*	2897.01	.	AC=6,4;AF=0.188,0.125;AN=32;BaseQRankSum=1.38;DP=7813;ExcessHet=0.3364;FS=4.620;InbreedingCoeff=0.1275;MLEAC=7,5;MLEAF=0.219,0.156;MQ=57.99;MQRankSum=-1.166e+01;QD=1.02;ReadPosRankSum=-5.051e+00;SOR=0.973	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,34,185:219:99:0|1:195783068_G_T:8698,7335,7563,1428,0,871:195783068	8	1	3	5
chr3	195783106	195783106	A	0	exonic	MUC4	.	.	.	.	.	522	916	35	26	23	110	0.0453361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	2727.94	506	chr3	195783106	.	A	*,G	2727.94	.	AC=4,6;AF=0.125,0.188;AN=32;BaseQRankSum=5.87;DP=7812;ExcessHet=0.3364;FS=3.688;InbreedingCoeff=0.1275;MLEAC=5,7;MLEAF=0.156,0.219;MQ=57.97;MQRankSum=-1.105e+01;QD=0.96;ReadPosRankSum=-4.100e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,185,34:219:99:0|1:195783068_G_T:8698,1428,871,7335,0,7563:195783068	8	0	3	5
chr3	195783108	195783108	T	0	exonic	MUC4	.	.	.	.	.	516	925	32	26	23	107	0.0434333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1538	1867.95	571	chr3	195783108	.	T	C,*	1867.95	.	AC=4,1;AF=0.154,0.038;AN=26;BaseQRankSum=-2.420e-01;DP=7503;ExcessHet=0.0568;FS=11.270;InbreedingCoeff=0.1651;MLEAC=6,1;MLEAF=0.231,0.038;MQ=57.87;MQRankSum=-1.176e+01;QD=2.39;ReadPosRankSum=-3.756e+00;SOR=1.387	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,30,185:215:99:0|1:195783068_G_T:8530,7335,7575,1260,0,703:195783068	9	0	3	8
chr3	195783115	195783115	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8465T:p.A2822V,	.	.	518	942	16	23	23	85	0.0318602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.784	P	0.235	B	.	.	1.000	N	0.345	N	1.54	T	-1.043	T	0.034	T	0.078	1.475	10.88	.	-0.000	0.527	5.818	0.055	0.00808758064807	.	.	9.747e-05	0	0	0	0	0.0002	0	0	3.88e-05	6	154602	rs779130828	0.0006	0.0075	0.0006	0.0007	0.0014	0.0006	0.0006	0.0010	0.0009	0.0001	0.0003	0.0008	0.0014	0.0011	0.0007	0.0006	0.0009	0.0001	0.0005	0.0090	0.0006	0.0005	0.0009	0.0004	0.0004	0.0007	0.0006	0.0002	0	0.0005	0.0003	0	0.0002	0	0.0009	0.0006	0	0.024	0.47745	D	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.54	0.30133	T	-0.32	0.12283	N	0.091	0.06990	-1.0429	0.16443	T	0.034	0.14509	T	7	0.057775825	0.06688	T	0.008088	0.21444	T	0.055	0.15663	0.112	0.02175	0.0138822411134	0.00435	4.332367442156766E-5	0.00003	.	.	0.49801659584	0.38551	T	.	.	.	-0.322191	0.06720	T	-0.700582	0.05794	T	0.0232126214171904	0.01049	T	0.561544	0.19673	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28550	B	.;.	.;.	1.043626	0.14243	10.82	0.97275147961025843	0.33153	0.04537	0.10171	N	AEFBI	0.111671	0.22101	N	-0.87767777179361	0.11376	0.5485977	-1.04387443529792	0.08835	0.4363716	0.00134275207830979	0.08462	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	0.054000	0.14087	0.088000	0.14478	0.193000	0.17869	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.001:0.0:0.999:0.0	5.818	0.17765	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.07692	865.72	571	chr3	195783115	.	G	A,*	865.72	.	AC=2,1;AF=0.077,0.038;AN=26;BaseQRankSum=2.60;DP=7423;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3186;MLEAC=3,1;MLEAF=0.115,0.038;MQ=56.27;MQRankSum=-1.761e+00;QD=3.92;ReadPosRankSum=-5.110e-01;SOR=1.039	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,20,185:205:99:0|1:195783068_G_T:8110,7335,7605,840,0,283:195783068	11	0	1	8
chr3	195783115	195783115	G	0	exonic	MUC4	.	.	.	.	.	518	942	16	23	23	85	0.0318602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	865.72	571	chr3	195783115	.	G	A,*	865.72	.	AC=2,1;AF=0.077,0.038;AN=26;BaseQRankSum=2.60;DP=7423;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3186;MLEAC=3,1;MLEAF=0.115,0.038;MQ=56.27;MQRankSum=-1.761e+00;QD=3.92;ReadPosRankSum=-5.110e-01;SOR=1.039	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,20,185:205:99:0|1:195783068_G_T:8110,7335,7605,840,0,283:195783068	11	0	1	8
chr3	195783119	195783119	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8461A:p.D2821N,	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	B	0.0	B	.	.	0.967	N	0.345	N	1.63	T	-0.998	T	0.034	T	0.028	0.684	7.659	.	-0.000	-0.466	4.544	0.017	0.00361977304785	.	.	0.0001	0	0	0	0.0006	0.0002	0	0	2.59e-05	4	154602	rs868560707	0.0003	0.0058	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	0.0004	0.0003	0.0003	0.0006	0.0005	0.0007	0.0002	0.0006	8.471e-05	0.0004	0.0066	0.0005	0.0003	0.0005	0.0003	0.0002	0.0004	0.0003	0.0002	0	0.0005	0.0007	0	0.0001	0	0.0005	0.0007	0	0.046	0.40573	D	0.092	0.40110	T	.	.	.	.	.	.	.	.	.	.	1	0.25888	N	.	.	.	1.63	0.28002	T	-0.65	0.18877	N	0.074	0.04790	-0.9984	0.30367	T	0.034	0.14639	T	7	0.04676366	0.03908	T	0.00362	0.08309	T	0.017	0.02790	0.218	0.13932	0.0138822411134	0.00435	4.811599441479893E-5	0.00003	.	.	0.538040757179	0.44169	T	.	.	.	-0.406046	0.02112	T	-0.821033	0.01432	T	0.0261067225224835	0.01420	T	0.627737	0.24333	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.16886	B	.;.	.;.	1.127292	0.15138	11.62	0.96387718866879646	0.29640	0.00081	0.00551	N	AEFBI	0.043696	0.06939	N	-1.31332560996001	0.03522	0.1574579	-1.42243953303557	0.03029	0.1405056	1.19599416723631E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-2.089000	0.01445	-2.543000	0.03628	0.174000	0.17776	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5833:0.4166:0.0	4.544	0.11475	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,16,188:204:99:0|1:195783068_G_T:8027,7420,7702,672,0,106:195783068	11	0	1	5
chr3	195783119	195783119	C	0	exonic	MUC4	.	.	.	.	.	523	945	13	20	21	74	0.0272774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	635.54	526	chr3	195783119	.	C	T,*	635.54	.	AC=2,4;AF=0.063,0.125;AN=32;BaseQRankSum=2.58;DP=7561;ExcessHet=0.1688;FS=2.903;InbreedingCoeff=0.1971;MLEAC=2,5;MLEAF=0.063,0.156;MQ=57.40;MQRankSum=-2.830e+00;QD=0.31;ReadPosRankSum=0.652;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,16,188:204:99:0|1:195783068_G_T:8027,7420,7702,672,0,106:195783068	11	0	1	5
chr3	195783242	195783242	C	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.G8338A:p.G2780S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	P	0.063	B	.	.	1.000	N	0.55	N	1.47	T	-1.042	T	0.029	T	0.081	0.622	7.348	-0.144	0.489	.	1.611	0.022	0.00122809884465	.	.	0.0008	0	0	0	0	9.664e-05	0.0038	0.0021	0.0001358	21	154602	rs536238818	0.0001	0.0001	6.115e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0015	3.759e-05	8.763e-05	0	0	0	0.0005	6.861e-06	0.0001	0.0019	1.429e-05	5.481e-05	1.396e-05	1.464e-05	7.019e-05	2.38e-06	8.9e-07	.	.	0	0	7.019e-05	0	0	0	0	1.593e-05	0	0	0.169	0.22920	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.33412	T	0.33	0.04613	N	0.093	0.07262	-1.0419	0.16741	T	0.029	0.12278	T	8	0.009252012	0.00209	T	0.001228	0.01633	T	0.022	0.04323	0.153	0.05648	0.0138822411134	0.00435	3.0227420646961545E-5	0.00003	.	.	0.506970524788	0.39799	T	.	.	.	-0.345355	0.05026	T	-0.733855	0.04155	T	0.0441426576477864	0.04446	T	0.890111	0.62362	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.27161	B	.;.	.;.	1.095771	0.14797	11.34	0.90486419032875898	0.19744	0.00123	0.00769	N	AEFBI	0.065956	0.12892	N	-0.962626784614436	0.09410	0.4452841	-1.10170593931989	0.07667	0.3738782	1.17643254487232E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	1.02	-0.144	0.12783	-3.121000	0.00656	-3.164000	0.03006	0.182000	0.17807	0.000000	0.06391	0.000000	0.08366	0.021000	0.11733	0.3349:0.3894:0.0:0.2756	1.611	0.02531	601	0.67921	.;.	.	.	.	.	.	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	1	0	0	0	0.04762	6339.26	451	chr3	195783242	.	C	T	6339.26	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.19;DP=5559;ExcessHet=0.0000;FS=9.239;InbreedingCoeff=0.9037;MLEAC=2;MLEAF=0.048;MQ=56.70;MQRankSum=2.87;QD=28.81;ReadPosRankSum=0.756;SOR=0.490	GT:AD:DP:GQ:PL	1/1:11,209:220:99:6367,429,0	20	1	0	0
chr3	195783346	195783346	A	0	exonic	MUC4	.	.	.	.	.	1082	70	139	167	64	537	0.771615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	13623.42	256	chr3	195783346	.	A	*,G	13623.42	.	AC=4,7;AF=0.286,0.500;AN=14;BaseQRankSum=1.28;DP=3337;ExcessHet=1.1394;FS=1.217;InbreedingCoeff=0.2429;MLEAC=9,15;MLEAF=0.643,1.00;MQ=53.18;MQRankSum=1.23;QD=15.80;ReadPosRankSum=1.52;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:2,0,71:73:99:1|1:195783346_A_G:2956,2962,3005,170,214,0:195783346	0	1	1	14
chr3	195783357	195783357	C	0	exonic	MUC4	.	.	.	.	.	804	505	66	83	64	296	0.186795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	9429.56	210	chr3	195783357	.	C	G,*	9429.56	.	AC=5,4;AF=0.357,0.286;AN=14;BaseQRankSum=-3.000e-03;DP=3094;ExcessHet=0.0000;FS=5.746;InbreedingCoeff=0.3636;MLEAC=10,8;MLEAF=0.714,0.571;MQ=49.14;MQRankSum=1.46;QD=23.75;ReadPosRankSum=-1.441e+00;SOR=1.550	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,61,0:61:99:1|1:195783346_A_G:2649,184,0,2649,184,2649:195783346	2	2	1	14
chr3	195783367	195783367	A	0	exonic	MUC4	.	.	.	.	.	717	615	72	57	61	247	0.131356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	6902.99	178	chr3	195783367	.	A	G,*	6902.99	.	AC=5,2;AF=0.357,0.143;AN=14;BaseQRankSum=1.84;DP=2929;ExcessHet=0.0000;FS=11.888;InbreedingCoeff=0.3056;MLEAC=10,4;MLEAF=0.714,0.286;MQ=46.46;MQRankSum=1.24;QD=30.54;ReadPosRankSum=1.51;SOR=1.789	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,45,0:46:93:1|1:195783346_A_G:1980,93,0,1983,135,2025:195783346	3	2	1	14
chr3	195783860	195783860	C	0	exonic	MUC4	.	.	.	.	.	448	1004	55	12	3	82	0.0378534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	7916.98	398	chr3	195783860	.	C	T,*	7916.98	.	AC=2,1;AF=0.050,0.025;AN=40;BaseQRankSum=2.35;DP=8280;ExcessHet=0.0000;FS=1.126;InbreedingCoeff=0.6396;MLEAC=2,1;MLEAF=0.050,0.025;MQ=54.70;MQRankSum=5.03;QD=19.79;ReadPosRankSum=0.856;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:8,194,0:202:99:1|1:195783860_C_T:7944,325,0,7967,583,8226:195783860	18	1	0	1
chr3	195783891	195783891	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	105790.68	446	chr3	195783891	.	G	A,*	105790.68	.	AC=14,1;AF=0.368,0.026;AN=38;BaseQRankSum=-3.408e+00;DP=9538;ExcessHet=18.9861;FS=1.113;InbreedingCoeff=-0.6327;MLEAC=15,1;MLEAF=0.395,0.026;MQ=55.85;MQRankSum=1.36;QD=13.99;ReadPosRankSum=1.52;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,198,0:258:99:0|1:195783860_C_T:8076,0,1765,8253,2361,10614:195783860	4	0	14	2
chr3	195783902	195783902	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	124896.55	459	chr3	195783902	.	A	G,*	124896.55	.	AC=15,1;AF=0.417,0.028;AN=36;BaseQRankSum=-2.830e-01;DP=9618;ExcessHet=25.4433;FS=0.524;InbreedingCoeff=-0.7101;MLEAC=17,1;MLEAF=0.472,0.028;MQ=56.37;MQRankSum=0.323;QD=15.45;ReadPosRankSum=-3.430e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,198,0:268:99:0|1:195783860_C_T:8075,0,2263,8282,2859,11141:195783860	2	0	15	3
chr3	195784574	195784575	GC	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	59833.56	472	chr3	195784574	.	GC	G,*	59833.56	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=2.18;DP=11527;ExcessHet=0.0454;FS=2.301;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.15;MQRankSum=1.54;QD=17.87;ReadPosRankSum=2.75;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,830,0:954:99:0|1:195784574_GC_G:10132,0,3295,10505,4751,15255:195784574	16	0	3	1
chr3	195784575	195784575	C	0	exonic	MUC4	.	.	.	.	.	813	569	58	6	76	146	0.057947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	77.83	457	chr3	195784575	.	C	G,*	77.83	.	AC=2,5;AF=0.125,0.313;AN=16;BaseQRankSum=2.15;DP=11392;ExcessHet=0.0295;FS=1.452;InbreedingCoeff=0.1763;MLEAC=2,10;MLEAF=0.125,0.625;MQ=56.55;MQRankSum=8.88;QD=0.03;ReadPosRankSum=5.23;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:123,1,830:954:99:0|1:195784575_C_*:13463,12495,37902,0,5445,2973:195784575	3	1	0	13
chr3	195784576	195784719	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	0	exonic	MUC4	.	.	.	.	.	534	906	66	8	8	90	0.0432946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	57691.6	410	chr3	195784576	.	GTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGA	G,*	57691.6	.	AC=4,1;AF=0.100,0.025;AN=40;BaseQRankSum=7.19;DP=12602;ExcessHet=0.0454;FS=0.560;InbreedingCoeff=0.3313;MLEAC=4,1;MLEAF=0.100,0.025;MQ=56.89;MQRankSum=1.55;QD=14.10;ReadPosRankSum=3.14;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,846,0:1099:99:0|1:195784574_GC_G:9679,0,8626,10526,10099,20625:195784574	16	0	3	1
chr3	195784580	195784580	T	0	exonic	MUC4	.	.	.	.	.	527	898	72	9	16	106	0.04772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.44	410	chr3	195784580	.	T	C,*	71.44	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12589;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3872;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:253,0,846:1099:99:0|1:195784574_GC_G:9679,10526,20625,0,10099,8626:195784574	13	1	0	3
chr3	195784583	195784583	C	0	exonic	MUC4	.	.	.	.	.	522	904	72	9	15	105	0.0474183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	71.59	410	chr3	195784583	.	C	G,*	71.59	.	AC=2,5;AF=0.056,0.139;AN=36;DP=12544;ExcessHet=0.0090;FS=0.560;InbreedingCoeff=0.3654;MLEAC=1,6;MLEAF=0.028,0.167;MQ=60.00;QD=0.02;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:253,0,846:1099:99:0|1:195784574_GC_G:9679,10526,20625,0,10099,8626:195784574	13	1	0	3
chr3	195784652	195784652	C	0	exonic	MUC4	.	.	.	.	.	842	358	133	132	57	454	0.356694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5294	123606.13	363	chr3	195784652	.	C	G,*	123606.13	.	AC=16,4;AF=0.471,0.118;AN=34;BaseQRankSum=1.37;DP=11220;ExcessHet=2.7716;FS=0.566;InbreedingCoeff=-0.1110;MLEAC=19,5;MLEAF=0.559,0.147;MQ=55.09;MQRankSum=-1.168e+01;QD=15.32;ReadPosRankSum=-3.180e-01;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:3,202,926:1131:99:0|1:195784652_C_*:38770,15826,16177,9013,0,6463:195784652	2	3	8	4
chr3	195784654	195784654	T	0	exonic	MUC4	.	.	.	.	.	811	382	134	136	59	465	0.347009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	117318.88	370	chr3	195784654	.	T	C,*	117318.88	.	AC=16,3;AF=0.471,0.088;AN=34;BaseQRankSum=1.41;DP=11323;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=19,4;MLEAF=0.559,0.118;MQ=54.70;MQRankSum=-1.241e+01;QD=16.09;ReadPosRankSum=-3.410e-01;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:3,205,926:1134:99:0|1:195784652_C_*:38899,15829,16171,9090,0,6490:195784652	3	3	8	4
chr3	195784655	195784655	C	0	exonic	MUC4	.	.	.	.	.	812	379	133	136	62	467	0.348237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4706	108863.73	369	chr3	195784655	.	C	*,T	108863.73	.	AC=4,15;AF=0.118,0.441;AN=34;BaseQRankSum=2.58;DP=11307;ExcessHet=1.4183;FS=0.000;InbreedingCoeff=-0.0051;MLEAC=5,17;MLEAF=0.147,0.500;MQ=54.71;MQRankSum=-1.230e+01;QD=14.80;ReadPosRankSum=-4.320e-01;SOR=0.673	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:3,926,205:1134:99:0|1:195784652_C_*:38899,9090,6490,15829,0,16171:195784652	3	0	1	4
chr3	195784719	195784719	A	0	exonic	MUC4	.	.	.	.	.	956	119	187	211	49	658	0.719008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	181902.03	501	chr3	195784719	.	A	G,*	181902.03	.	AC=18,3;AF=0.600,0.100;AN=30;BaseQRankSum=-5.120e-01;DP=14927;ExcessHet=7.4688;FS=0.000;InbreedingCoeff=-0.1407;MLEAC=23,4;MLEAF=0.767,0.133;MQ=57.00;MQRankSum=-5.969e+00;QD=19.43;ReadPosRankSum=-2.732e+00;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:1,140,932:1073:99:0|1:195784652_C_*:36687,15984,15991,6778,0,4036:195784652	0	4	8	6
chr3	195785266	195785266	A	G	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.T6314C:p.V2105A	.	.	404	1107	10	1	0	12	0.00539084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.613	P	0.058	B	.	.	1.000	N	-0.55	N	1.47	T	-1.033	T	0.021	T	0.148	-0.568	1.441	.	0.408	1.239	5.200	0.025	.	.	.	0.0052	0.0108	0.0017	0	0.0005	0.0025	0.0068	0.0095	0	0	154602	rs766863695	0.0003	0.0021	0.0003	0.0003	0.0017	0.0003	0.0002	0.0013	0.0012	0.0017	0.0002	0.0003	0	6.103e-05	0.0010	0.0002	0.0004	0.0005	0.0021	0.0081	0.0022	0.0020	0.0058	0.0019	0.0018	0.0051	0.0049	0.0058	0	0.0015	0.0003	0	0.0001	0.0049	0.0010	0.0022	0.0023	0.407	0.14743	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.47	0.33189	T	-0.1	0.09627	N	0.024	0.00445	-1.0333	0.19395	T	0.021	0.08778	T	7	0.004711926	0.00099	T	.	.	.	0.025	0.05312	.	.	0.0138822411134	0.00435	1.9919801351175342E-4	0.00017	.	.	0.490076959133	0.37449	T	.	.	.	-0.282386	0.10417	T	-0.643404	0.09422	T	0.00738721061497927	0.00085	T	0.492951	0.15215	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.127	0.27131	B	.;.	.;.	0.932911	0.13084	9.585	0.2986851452695114	0.01605	0.00136	0.00836	N	AEFBCI	0.026922	0.02108	N	-1.10974213961851	0.06469	0.2978798	-1.23127551893087	0.05414	0.2579215	1.16741367255487E-5	0.02871	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	-0.141000	0.10308	-2.174000	0.04104	-1.124000	0.01467	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.9998:0.0:2.0E-4:0.0	5.200	0.14580	604	0.67577	.;.	.	.	.	.	.	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	0.02381	431.98	704	chr3	195785266	.	A	G	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.19;DP=14598;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.16;MQRankSum=-1.674e+01;QD=0.53;ReadPosRankSum=-4.256e+00;SOR=0.833	GT:AD:DP:GQ:PL	0/1:739,75:814:99:446,0,30609	20	0	1	0
chr3	195785275	195785293	GCGTCGGTGACAAGAAGAG	-	exonic	MUC4	.	frameshift deletion	MUC4:NM_018406:exon2:c.6287_6305del:p.S2096Ffs*902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.901e-06	2.138e-05	1.431e-06	4.41e-06	2.82e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.82e-06	1.751e-05	0	0	8.594e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	279.94	704	chr3	195785274	.	AGCGTCGGTGACAAGAAGAG	A	279.94	.	AC=1;AF=0.024;AN=42;DP=14583;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.10;QD=0.38;SOR=0.679	GT:AD:DP:GQ:PL	0/1:737,0:737:99:294,0,30532	20	0	1	0
chr3	195785315	195785315	-	GAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	exonic	MUC4	.	frameshift insertion	MUC4:NM_018406:exon2:c.6264_6265insGTGTCCACAGGTCACGCCACGCCTCTTCCTGTCACCGACGCTTCCTC:p.I2089Vfs*931	.	.	542	16	26	927	11	1891	0.983264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.337e-05	0	0	0	0.0005	7.837e-05	0	0	1.29e-05	2	154602	rs751858617	0.0001	0.0010	0.0001	0.0002	0.0009	0.0001	0.0001	0.0006	0.0006	0.0009	8.604e-05	0	2.823e-05	0.0005	0.0002	9.85e-05	0.0002	7.712e-05	0.0004	0.0010	0.0004	0.0004	0.0009	0.0003	0.0003	0.0007	0.0006	0.0009	0	7.172e-05	0	0	0.0001	0	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	501656.58	740	chr3	195785315	.	T	C,TGAGGAAGCGTCGGTGACAGGAAGAGGCGTGGCGTGACCTGTGGACAC	501656.58	.	AC=40,2;AF=0.952,0.048;AN=42;BaseQRankSum=1.87;DP=15694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=57.82;MQRankSum=-3.320e-01;QD=34.25;ReadPosRankSum=-4.420e-01;SOR=0.107	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,464,0:464:99:.:.:15451,1392,0,15632,1418,17456	0	19	0	0
chr3	195785374	195785374	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	431121.8	754	chr3	195785374	.	T	C,*	431121.8	.	AC=36,1;AF=0.857,0.024;AN=42;BaseQRankSum=1.92;DP=14531;ExcessHet=1.1607;FS=1.262;InbreedingCoeff=-0.1351;MLEAC=36,1;MLEAF=0.857,0.024;MQ=56.84;MQRankSum=-6.000e-01;QD=31.27;ReadPosRankSum=1.39;SOR=0.348	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,250,0:251:99:.:.:7967,743,0,8434,770,9822	0	15	5	0
chr3	195788677	195788677	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C2903T:p.T968M	.	.	417	1085	20	0	0	20	0.00913242	.	.	2822249	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.005	B	0.0	B	0.120	N	1.000	N	0	N	1.24	T	-1.030	T	0.034	T	0.213	-0.137	3.330	0.249	-0.015	0.564	3.446	0.034	.	0.0022	0.00499201	0.0032	0.0006	0.0008	0	0	0.0030	0.0052	0.0094	0.0025226	390	154602	rs62282503	0.0027	0.0027	0.0025	0.0029	0.0076	0.0026	0.0026	0.0072	0.0070	0.0007	0.0004	0.0165	5.04e-05	0	0.0057	0.0023	0.0043	0.0076	0.0020	0.0020	0.0021	0.0019	0.0104	0.0018	0.0017	0.0081	0.0073	0.0004	0.0088	0.0009	0.0173	0	0	0.0034	0.0022	0.0014	0.0104	0.0	0.91255	D	0.006	0.70582	D	.	.	.	.	.	.	0.119835	0.02715	N	2.069380	1	0.08975	N	.	.	.	1.24	0.36691	T	-0.6	0.17834	N	0.13	0.26233	-1.0296	0.20583	T	0.034	0.14769	T	10	0.0057825744	0.00129	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.0031421507045275004	0.00293	.	.	0.356689542532	0.18903	T	.	.	.	-0.546085	0.00308	T	-0.551922	0.17142	T	0.0117893886558595	0.00182	T	0.574643	0.20620	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18247	B	.;.	.;.	1.057089	0.14384	10.96	0.24927879123083707	0.01125	0.01512	0.04997	N	AEFBI	0.058391	0.10953	N	-1.31518238147632	0.03500	0.1564828	-1.36173198250375	0.03669	0.1716494	1.67131872455135E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567339	0.31927	0	.	.	2.22	0.249	0.14790	0.934000	0.28510	0.036000	0.13800	-0.325000	0.05822	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.1593:0.0:0.5729:0.2679	3.446	0.07050	604	0.67577	.;.	.	.	.	.	.	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	0.02381	4989.98	199	chr3	195788677	.	G	A	4989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.57;DP=4138;ExcessHet=0.0000;FS=0.451;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.94;MQRankSum=1.00;QD=18.35;ReadPosRankSum=-9.470e-01;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,135:272:99:0|1:195788677_G_A:5004,0,5242:195788677	20	0	1	0
chr3	195788852	195788852	T	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.A2728G:p.T910A	.	.	415	1065	42	0	0	42	0.019337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.888	P	0.32	B	0.278	N	1.000	N	0.55	N	0.97	T	-1.105	T	0.018	T	0.081	0.372	6.022	2.78	1.529	0.120	4.692	0.034	.	0.0075	0.0155751	0.0096	0.0194	0.0042	0.0001	0.0002	0.0040	0.0102	0.0390	0.0090232	1395	154602	rs56943541	0.0062	0.0062	0.0051	0.0073	0.0404	0.0061	0.0060	0.0393	0.0388	0.0192	0.0040	0.0082	0.0002	0.0004	0.0156	0.0035	0.0080	0.0404	0.0092	0.0093	0.0089	0.0096	0.0391	0.0088	0.0087	0.0346	0.0328	0.0191	0.0011	0.0060	0.0075	0.0008	0.0003	0.0238	0.0039	0.0128	0.0391	0.0	0.91255	D	0.321	0.19073	T	.	.	.	.	.	.	0.277752	0.15003	N	0.551928	1	0.18198	N	.	.	.	0.96	0.42888	T	-0.5	0.15782	N	0.187	0.41853	-1.1053	0.03507	T	0.018	0.07565	T	10	0.0030997694	0.00051	T	.	.	.	0.034	0.08419	.	.	0.0138822411134	0.00435	0.005676888620947402	0.00537	.	.	0.379200518131	0.22144	T	.	.	.	-0.610085	0.00126	T	-0.619845	0.11197	T	0.0369301723646151	0.03144	T	0.491951	0.15143	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	0.22208	B	.;.	.;.	1.041610	0.14225	10.80	0.46889329741341601	0.03791	0.01682	0.05369	N	AEFBI	0.057494	0.10715	N	-0.773186617132331	0.14011	0.6945784	-0.859506745960561	0.13059	0.6753832	5.42944761998302E-5	0.04171	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.78	2.78	0.31702	1.293000	0.32959	-0.008000	0.13101	0.588000	0.31329	0.010000	0.18352	0.000000	0.08366	0.004000	0.06068	0.0:0.145:0.0:0.855	4.692	0.12168	604	0.67577	.;.	.	.	.	.	.	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	0.04762	5146.11	67	chr3	195788852	.	T	C	5146.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.19;DP=1580;ExcessHet=0.1072;FS=7.401;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=18.99;ReadPosRankSum=-6.000e-02;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,71:153:99:0|1:195788852_T_C:2671,0,3128:195788852	19	0	2	0
chr4	893910	893910	G	A	exonic	GAK	.	nonsynonymous SNV	GAK:NM_001318134:exon5:c.C604T:p.H202Y	.	.	407	1089	25	1	0	27	0.0122449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.777	P	0.359	B	0.008	N	1.000	N	0.605	N	2.1	T	-1.035	T	0.028	T	0.277	1.357	10.46	-2.3	-0.723	0.822	6.293	0.056	0.00840757660108	0.0017	0.000399361	0.0017	0.0003	0.0004	0	0.0002	0.0022	0.0024	0.0037	0.0014748	228	154602	rs143895569	0.0012	0.0013	0.0011	0.0014	0.0087	0.0012	0.0012	0.0068	0.0061	0.0003	0.0007	0.0098	2.519e-05	0.0002	0.0087	0.0009	0.0019	0.0043	0.0011	0.0011	0.0010	0.0011	0.0037	0.0009	0.0009	0.0024	0.0020	0.0003	0	0.0008	0.0086	0	0.0002	0.0204	0.0011	0.0033	0.0037	0.004	0.65419	D	0.02	0.67890	D	0.371	0.34093	B	0.359	0.43123	B	0.008363	0.30877	N	0.376802	1	0.08975	N	0.175	0.09039	N	2.1	0.19990	T	-1.93	0.44852	N	0.36	0.43029	-1.0348	0.18920	T	0.028	0.11882	T	10	0.010140032	0.00227	T	0.008408	0.22257	T	0.056	0.15993	.	.	0.267718591433	0.26370	0.5013010322519555	0.50052	0.178406829687	0.20072	0.278040200472	0.07221	T	0.072032	0.34354	T	-0.533078	0.00368	T	-0.541242	0.18174	T	0.00960197410962139	0.00125	T	0.950605	0.81406	D	0.2469717	0.47671	0.2177819	0.46456	0.2469717	0.47671	0.2177819	0.46455	-6.874	0.53314	T	.	.	0.078	0.07412	B	.;.	.;.	0.688373	0.10569	7.277	0.97481198633332877	0.34188	0.10332	0.15868	N	AEFBCI	0.062690	0.12068	N	-1.01510527271143	0.08289	0.3881664	-1.13499864470885	0.07040	0.3410092	0.12266499852928	0.16919	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.85	-2.3	0.06399	0.952000	0.28747	.	.	-0.140000	0.12423	0.107000	0.22934	0.000000	0.08366	0.003000	0.05239	0.0:0.1826:0.1226:0.6949	6.293	0.20277	779	0.47767	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1223.98	33	chr4	893910	.	G	A	1223.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.045e+00;DP=838;ExcessHet=0.0000;FS=1.445;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-2.046e+00;SOR=0.607	GT:AD:DP:GQ:PL	0/1:71,53:124:99:1238,0,1846	20	0	1	0
chr4	1025268	1025268	-	CACA	exonic	FGFRL1	.	frameshift insertion	FGFRL1:NM_021923:exon6:c.1436_1437insCACA:p.S486Tfs*67	.	.	414	774	328	1	5	335	0.175719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	734.34	34	chr4	1025266	.	CCA	C,CCACACA	734.34	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-9.200e-02;DP=1325;ExcessHet=4.7172;FS=1.630;InbreedingCoeff=-0.2727;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=0.069;SOR=0.760	GT:AD:DP:GQ:PL	0/1:56,12,0:68:99:226,0,1763,394,1800,2194	12	0	8	0
chr4	1093984	1093984	G	A	exonic	RNF212	.	nonsynonymous SNV	RNF212:NM_001193318:exon4:c.C277T:p.L93F,	Recombination rate QTL 1	.	9	1472	40	1	0	42	0.0140656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.991	D	0.934	D	0.312	U	1.000	N	0	N	.	.	-1.061	T	0.060	T	0.028	0.659	7.532	0.637	0.608	0.349	.	0.061	.	.	0.00898562	0.0077	0.0226	0.0111	0	0	0.0117	0.0183	0.0056	0.0013389	207	154602	rs150642883	0.0033	0.0032	0.0033	0.0034	0.0188	0.0032	0.0032	0.0164	0.0159	0.0176	0.0071	0.0188	0	0.0001	0.0188	0.0023	0.0066	0.0045	0.0076	0.0076	0.0078	0.0075	0.0174	0.0073	0.0071	0.0164	0.0160	0.0174	0	0.0081	0.0164	0	9.427e-05	0.0442	0.0028	0.0142	0.0044	0.02	0.49613	D	0.149	0.32568	T	.	.	.	.	.	.	0.311924	0.14418	U	0.551000	1	0.08975	N	.	.	.	.	.	.	-0.19	0.09965	N	0.078	0.05287	-1.0608	0.11557	T	0.060	0.24945	T	8	0.0044107735	0.00090	T	.	.	.	0.061	0.17616	.	.	0.195762928549	0.19159	.	.	.	.	.	.	.	.	.	.	-0.661055	0.00062	T	-0.707399	0.05431	T	0.00554193375632146	0.00060	T	0.267673	0.04439	T	.	.	.	.	.	.	.	.	-4.994	0.36775	T	.	.	0.196	0.41693	B	.	.	0.619360	0.09878	6.639	0.91043257399491551	0.20295	0.01393	0.04730	N	AEFDBI	0.045506	0.07451	N	-0.549557935187204	0.20498	1.080975	-0.796138755774919	0.14590	0.7630941	1.07826579291847E-4	0.05123	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.637	0.637	0.16907	0.461000	0.21651	0.411000	0.18111	0.591000	0.32079	0.003000	0.16062	0.003000	0.18671	0.016000	0.10718	.	.	.	883	0.28872	.	.	.	.	.	.	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	0.02381	819.98	45	chr4	1093984	.	G	A	819.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=0.528;SOR=0.603	GT:AD:DP:GQ:PL	0/1:36,31:67:99:834,0,964	20	0	1	0
chr4	2662992	2662992	G	C	splicing	FAM193A	NM_001366316:exon11:c.1728+1G>C;NM_001366318:exon11:c.1899+1G>C;NM_001256666:exon9:c.1026+1G>C;NM_001256667:exon10:c.1092+1G>C;NM_003704:exon9:c.1026+1G>C;NM_001256668:exon9:c.1026+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.076	16.27	5.94	2.820	8.776	19.362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.192e-06	0.0001	4.102e-06	8.307e-06	8.147e-06	2.91e-06	2.11e-06	3.83e-06	2.78e-06	0	0	0	0	0	0	8.147e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.278694	0.81204	D	0.162548	0.80963	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.228451	0.87761	29.4	0.99446033122521582	0.65021	0.97690	0.76437	D	AEFBCI	.	.	.	1.17962989754767	0.99342	22.03292	1.0229923532359	0.99025	20.32474	0.999999999999954	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.087121	0.02386	0	0.975606	0.78585	5.94	5.94	0.96165	8.898000	0.92168	11.640000	0.93781	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.0:1.0:0.0	19.362	0.94432	624	0.65661	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1765	531.26	142	chr4	2662992	.	G	C	531.26	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.826e+00;DP=2064;ExcessHet=1.7912;FS=200.882;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.827;SOR=11.598	GT:AD:DP:GQ:PL	0/1:79,33:118:33:33,0,1325	11	0	6	4
chr4	3074882	3074882	-	CAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAG:p.Q38_P39insQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,3,5,0,0,0:8:99:.:.:252,295,534,146,254,278,107,322,0,471,295,534,254,322,534,295,534,254,322,534,534,295,534,254,322,534,534,534	3	1	1	0
chr4	3074880	3074882	CAG	-	exonic	HTT	.	nonframeshift deletion	HTT:NM_002111:exon1:c.55_57del:p.Q38del,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,3,5,0,0,0:8:99:.:.:252,295,534,146,254,278,107,322,0,471,295,534,254,322,534,295,534,254,322,534,534,295,534,254,322,534,534,534	3	1	1	0
chr4	3074882	3074882	-	CAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAG:p.Q38_P39insQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,3,5,0,0,0:8:99:.:.:252,295,534,146,254,278,107,322,0,471,295,534,254,322,534,295,534,254,322,534,534,295,534,254,322,534,534,534	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAG:p.Q38_P39insQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,3,5,0,0,0:8:99:.:.:252,295,534,146,254,278,107,322,0,471,295,534,254,322,534,295,534,254,322,534,534,295,534,254,322,534,534,534	3	1	1	0
chr4	3074882	3074882	-	CAGCAGCAGCAGCAG	exonic	HTT	.	nonframeshift insertion	HTT:NM_002111:exon1:c.57_58insCAGCAGCAGCAGCAG:p.Q38_P39insQQQQQ,	Huntington disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	20237.75	33	chr4	3074876	.	CCAGCAG	CCAGCAGCAGCAGCAG,C,CCAG,CCAGCAGCAG,CCAGCAGCAGCAGCAGCAG,CCAGCAGCAGCAGCAGCAGCAG	20237.75	.	AC=3,15,5,3,3,1;AF=0.071,0.357,0.119,0.071,0.071,0.024;AN=42;BaseQRankSum=0.322;DP=1615;ExcessHet=0.0944;FS=0.880;InbreedingCoeff=0.3000;MLEAC=3,15,5,3,3,1;MLEAF=0.071,0.357,0.119,0.071,0.071,0.024;MQ=59.93;MQRankSum=0.00;QD=34.24;ReadPosRankSum=-3.370e-01;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,3,5,0,0,0:8:99:.:.:252,295,534,146,254,278,107,322,0,471,295,534,254,322,534,295,534,254,322,534,534,295,534,254,322,534,534,534	3	1	1	0
chr4	3442889	3442889	C	G	exonic	HGFAC	.	nonsynonymous SNV	HGFAC:NM_001297439:exon2:c.C275G:p.S92W	.	.	422	1074	26	0	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.947	P	0.367	B	0.860	U	1.000	N	0.695	N	-2.53	D	-0.527	T	0.424	T	0.408	0.588	7.172	-0.856	-0.283	0.550	2.897	0.368	0.298130451809	7.7e-05	0.00159744	0.0016	0	0.0019	0.0004	0	0.0004	0.0025	0.0098	0.0014489	224	154602	rs199767749	0.0008	0.0009	0.0006	0.0011	0.0090	0.0008	0.0008	0.0084	0.0082	6.48e-05	0.0011	4.251e-05	0.0001	0	0.0074	0.0003	0.0009	0.0090	0.0007	0.0007	0.0006	0.0008	0.0100	0.0006	0.0006	0.0077	0.0069	9.63e-05	0	0.0008	0	0	0	0.0068	0.0005	0.0043	0.0100	0.185	0.21550	T	0.015	0.61642	D	0.947	0.53479	P	0.367	0.43430	B	0.860091	0.08901	U	0.882545	0.999967	0.18878	N	0.805	0.20218	L	-2.55	0.89561	D	-0.33	0.12472	N	0.509	0.54059	-0.5275	0.67635	T	0.424	0.76816	T	10	0.005494565	0.00121	T	0.29813	0.90791	D	0.368	0.68757	.	.	0.504968073517	0.50134	0.43640903971464434	0.43557	0.210624317738	0.23558	0.569095015526	0.48549	T	0.047731	0.27809	T	-0.324838	0.06509	T	-0.234116	0.51373	T	0.0241400113216677	0.01163	T	0.649135	0.25986	T	0.033651676	0.03627	0.040767018	0.04483	0.033651676	0.03627	0.040767018	0.04482	-5.755	0.44180	T	.	.	0.134	0.40937	B	.;.	.;.	1.431416	0.18497	13.77	0.86557852664696322	0.16616	0.13757	0.18035	N	AEFDBHCI	0.441084	0.49938	N	-1.20330469427619	0.04951	0.2246092	-1.38654132267877	0.03394	0.158255	0.999998942615482	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.99	-0.856	0.10155	0.326000	0.19391	0.779000	0.21463	-1.329000	0.01219	0.001000	0.13787	0.000000	0.08366	0.013000	0.09966	0.0:0.4418:0.2409:0.3173	2.897	0.05343	862	0.33134	.;.	.	.	.	.	.	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	0.02381	1182.98	35	chr4	3442889	.	C	G	1182.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-01;DP=928;ExcessHet=0.0000;FS=2.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=0.263;SOR=0.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,50:105:99:0|1:3442866_G_A:1197,0,1382:3442866	20	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.01	B	0.01	B	0.003	N	0.997	D	1.87	L	.	.	-0.870	T	0.178	T	0.274	3.086	16.31	1.7	0.426	3.325	6.857	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7325.55	151	chr4	6862306	.	T	C	7325.55	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.348e+00;DP=3019;ExcessHet=54.0936;FS=242.021;InbreedingCoeff=-0.9914;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.50;ReadPosRankSum=0.996;SOR=13.535	GT:AD:DP:GQ:PL	0/1:91,44:135:99:366,0,1961	0	0	21	0
chr4	9834936	9834936	C	T	exonic	SLC2A9	.	nonsynonymous SNV	SLC2A9:NM_020041:exon11:c.G1364A:p.G455D	Hypouricemia, renal, 2, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.275	M	0.98	T	-0.140	T	0.351	T	0.942	3.917	19.93	5.27	2.451	7.139	16.369	0.645	0.051637097559	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1223347018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.314e-05	1.313e-05	2.57e-05	0	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	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999992	0.58761	D	3.615	0.93875	H	0.98	0.42122	T	-6.57	0.91912	D	0.991	0.99776	-0.1395	0.79177	T	0.351	0.71494	T	10	0.97263867	0.96913	D	0.051637	0.64742	D	0.645	0.86536	0.777	0.90235	0.572106025898	0.56878	0.948593100166401	0.94842	0.59470734098	0.54777	0.697117865086	0.66728	T	0.572315	0.85859	D	0.284373	0.81688	D	0.170705	0.81453	D	0.998738467693329	0.95007	D	0.957038	0.83775	D	0.9806002	0.99155	0.9671815	0.99337	0.9806002	0.99155	0.9671815	0.99338	-11.367	0.82538	D	0.8852627039888439	0.94173	0.987	0.92685	P	.;.;.	.;.;.	4.465838	0.69550	25.4	0.9983365438646572	0.91542	0.97779	0.77072	D	AEFBI	0.934921	0.92899	D	0.818567810558031	0.87252	9.154346	0.714087190170896	0.83449	8.024212	0.999999976532322	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.27	5.27	0.73797	7.491000	0.80296	.	.	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.090000	0.17789	0.0:1.0:0.0:0.0	16.369	0.83178	883	0.28872	Major facilitator superfamily domain|Major facilitator superfamily domain;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2439.98	40	chr4	9834936	.	C	T	2439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=910;ExcessHet=0.0000;FS=10.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.787;SOR=1.096	GT:AD:DP:GQ:PL	0/1:94,100:194:99:2454,0,2256	20	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGG:p.F488Gfs*68	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.416e-05	0.0011	7.738e-05	7.09e-05	0.0003	6.203e-05	5.787e-05	0.0001	0.0001	0.0003	2.912e-05	0.0002	3.182e-05	4.243e-05	0	7.362e-05	0.0001	1.291e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,6,0,0:36:99:0|1:15004125_C_CGGGGGGGGGGGGGGGG:137,228,1487,0,1260,1242,228,1487,1260,1487,228,1487,1260,1487,1487:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGG:p.F488Gfs*69	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54e-05	0.0002	1.458e-05	1.623e-05	0.0001	9.9e-06	8.4e-06	2.879e-05	1.498e-05	0.0001	0	4.257e-05	3.181e-05	2.121e-05	0	1.319e-05	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,6,0,0:36:99:0|1:15004125_C_CGGGGGGGGGGGGGGGG:137,228,1487,0,1260,1242,228,1487,1260,1487,228,1487,1260,1487,1487:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGG:p.F488Gfs*22	.	.	373	1134	5	0	10	15	0.00219974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0031	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	0.0004	8.738e-05	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	2.584e-05	6.656e-06	0.0001	1.299e-05	0	2.421e-05	0	0	.	.	2.421e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,6,0,0:36:99:0|1:15004125_C_CGGGGGGGGGGGGGGGG:137,228,1487,0,1260,1242,228,1487,1260,1487,228,1487,1260,1487,1487:15004125	16	0	1	0
chr4	15004125	15004125	-	GGGGGGGGGGGGGGGGGGG	exonic	CPEB2	.	frameshift insertion	CPEB2:NM_001177381:exon1:c.1452_1453insGGGGGGGGGGGGGGGGGGG:p.F488Gfs*70	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	5.542e-05	4.373e-06	2.951e-06	3.623e-05	1.07e-06	7.8e-07	3.1e-07	1.2e-07	3.623e-05	0	4.257e-05	0	0	0	1.885e-06	1.792e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	385.35	44	chr4	15004125	.	C	CGGGGGGGGGGGGG,CGGGGGGGGGGGGGGGG,CGGGGGGGGGGG,CGGGGGGGGGGGGGGGGGGG	385.35	.	AC=1,2,1,1;AF=0.024,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1071;ExcessHet=1.1607;FS=130.157;InbreedingCoeff=-0.1383;MLEAC=1,2,1,1;MLEAF=0.024,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=1.75;ReadPosRankSum=-2.336e+00;SOR=7.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:30,0,6,0,0:36:99:0|1:15004125_C_CGGGGGGGGGGGGGGGG:137,228,1487,0,1260,1242,228,1487,1260,1487,228,1487,1260,1487,1487:15004125	16	0	1	0
chr4	25822001	25822001	C	T	exonic	SEL1L3	.	nonsynonymous SNV	SEL1L3:NM_001297592:exon7:c.G1180A:p.A394T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.0	B	0.0	B	0.895	N	1.000	N	0.84	L	2.29	T	-0.952	T	0.018	T	0.08	0.359	5.949	0.124	-0.335	0.036	5.793	0.012	0.00627201170531	0.0004	0.000998403	0.0002	0.0023	0.0002	0	0	3.313e-05	0	0	0.0002005	31	154602	rs115625644	7.255e-05	7.319e-05	7.763e-05	6.743e-05	0.0017	6.118e-05	5.703e-05	0.0014	0.0012	0.0017	0.0001	0	0	0	0.0004	3.329e-05	6.63e-05	0	0.0005	0.0005	0.0005	0.0005	0.0016	0.0004	0.0004	0.0013	0.0012	0.0016	0	0.0003	0	0	0	0	5.881e-05	0	0	0.212	0.19500	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.894549	0.08663	N	0.956909	1	0.08975	N	-0.145	0.04423	N	2.29	0.17113	T	-0.23	0.11185	N	0.037	0.03069	-0.9523	0.40573	T	0.018	0.07565	T	10	0.0055663288	0.00123	T	0.006272	0.16464	T	0.012	0.01476	.	.	0.0675242888579	0.06100	0.482423174910343	0.48162	0.175824266689	0.19791	0.279352009296	0.07402	T	0.00486	0.04280	T	-0.676122	0.00051	T	-0.751243	0.03437	T	0.00395257405195869	0.00042	T	0.652235	0.26282	T	0.033795282	0.03668	0.036620162	0.03146	0.033795282	0.03668	0.036620162	0.03145	-2.736	0.08739	T	.	.	0.068	0.05317	B	.;.;.	.;.;.	1.453306	0.18743	13.90	0.81964385836383902	0.13949	0.03209	0.08210	N	AEFDBCI	0.027526	0.02265	N	-1.25037491042577	0.04294	0.1935561	-1.22049069993413	0.05582	0.2663356	0.998327150528943	0.36758	0.741868	0.97996	0	0.709663	0.81188	0	0.774882	0.98623	0	0.714379	0.83352	0	.	.	5.81	0.124	0.14016	0.252000	0.18046	-0.352000	0.09737	-0.974000	0.01926	0.001000	0.13787	0.000000	0.08366	0.102000	0.18378	0.0:0.5196:0.1245:0.356	5.793	0.17635	873	0.30802	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	731.98	35	chr4	25822001	.	C	T	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.705;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.91;ReadPosRankSum=-4.190e-01;SOR=0.628	GT:AD:DP:GQ:PL	0/1:21,25:46:99:746,0,526	20	0	1	0
chr4	53145477	53145477	T	C	exonic	SCFD2	.	nonsynonymous SNV	SCFD2:NM_152540:exon5:c.A1417G:p.I473V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.500	N	1.000	N	0.11	N	-1.0	T	-0.935	T	0.210	T	0.088	-2.061	0.006	-1.83	-0.366	-0.114	13.716	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	733.66	116	chr4	53145477	.	T	C	733.66	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.026e+00;DP=1805;ExcessHet=2.5830;FS=148.015;InbreedingCoeff=-0.1887;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.79;ReadPosRankSum=0.708;SOR=11.035	GT:AD:DP:GQ:PL	0/1:91,37:128:99:227,0,1852	14	0	7	0
chr4	53573978	53573978	C	T	exonic	LNX1	.	nonsynonymous SNV	LNX1:NM_001126328:exon2:c.G25A:p.D9N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.384	B	0.038	B	0.130	N	1.000	N	1.61	L	4.62	T	-1.012	T	0.024	T	0.065	1.039	9.245	3.36	0.433	1.762	7.252	0.024	.	0.0054	0.00658946	0.0020	0.0237	0.0009	0	0.0002	4.632e-05	0.0012	0.0001	0.0018628	288	154602	rs116744860	0.0006	0.0006	0.0007	0.0005	0.0211	0.0006	0.0006	0.0198	0.0193	0.0211	0.0014	0	2.521e-05	7.493e-05	0.0009	5.22e-05	0.0014	9.311e-05	0.0058	0.0059	0.0060	0.0057	0.0201	0.0055	0.0054	0.0190	0.0185	0.0201	0	0.0026	0	0	9.436e-05	0.0034	0.0001	0.0028	0	0.382	0.11120	T	0.225	0.25514	T	0.384	0.34453	B	0.038	0.23361	B	0.129698	0.02798	N	1.654820	0.999997	0.08975	N	2.08	0.57402	M	4.62	0.19020	T	-0.09	0.82341	N	0.134	0.13055	-1.0116	0.26416	T	0.024	0.10284	T	10	0.0038034618	0.00071	T	.	.	.	0.024	0.04979	.	.	0.323342291347	0.31936	0.28733084384244584	0.28646	0.0724097737162	0.08119	0.28898152709	0.08775	T	0.065477	0.32698	T	-0.664839	0.00059	T	-0.710852	0.05252	T	0.00502954329613607	0.00054	T	0.385761	0.09460	T	0.029050965	0.02339	0.024796732	0.00506	0.029050965	0.02339	0.024796732	0.00506	-4.621	0.32435	T	.	.	0.083	0.09433	B	.;.;.;.;.	.;.;.;.;.	0.810282	0.11810	8.382	0.71303862364798853	0.09584	0.07244	0.13268	N	AEFDBHI	0.116156	0.22809	N	-0.809693794849597	0.13062	0.6408906	-0.835950823376246	0.13625	0.7078652	0.999989190710251	0.51787	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.662026	0.63922	0	.	.	5.98	3.36	0.37579	1.625000	0.36639	0.930000	0.22772	-0.230000	0.07744	0.001000	0.13787	0.095000	0.22593	0.002000	0.04165	0.0:0.7019:0.1473:0.1507	7.252	0.25329	524	0.74079	.;.;.;.;.	.	.	.	.	.	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	0.02381	3498.98	33	chr4	53573978	.	C	T	3498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.26;DP=993;ExcessHet=0.0000;FS=1.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.78;ReadPosRankSum=-6.020e-01;SOR=0.801	GT:AD:DP:GQ:PL	0/1:161,136:297:99:3513,0,3766	20	0	1	0
chr4	80362752	80362752	A	G	splicing	CFAP299	NM_001206997:exon2:c.112-2A>G;NM_152770:exon2:c.112-2A>G	.	.	.	.	440	1079	3	0	0	3	0.00138825	1.0000	0.93	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.982	12.58	5.21	2.091	6.253	14.350	.	.	0.0005	0.000599042	0.0005	0.0005	0.0003	0	0	0.0006	0.0034	0.0003	0.000414	64	154602	rs150478667	0.0004	0.0004	0.0004	0.0004	0.0078	0.0003	0.0003	0.0060	0.0053	0.0005	0.0005	0.0030	0	0	0.0078	0.0003	0.0009	0.0001	0.0004	0.0004	0.0004	0.0005	0.0006	0.0003	0.0003	0.0003	0.0002	0.0005	0	0.0003	0.0037	0	0	0	0.0003	0.0014	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.17953	0.23805	T	-0.15072	0.59181	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.942349	0.81574	27.6	0.98920456754617714	0.48546	0.85623	0.44775	D	ALL	.	.	.	0.955428154937149	0.94199	12.57484	0.761661282205913	0.87026	9.081965	0.999999997009881	0.74766	0.049104	0.00279	0	0.068659	0.01829	0	0.065574	0.01856	0	0.057841	0.00900	0	0.960074	0.65334	5.21	5.21	0.72005	6.212000	0.72128	10.992000	0.84691	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	1.0:0.0:0.0:0.0	14.350	0.66255	809	0.43032	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	572.98	33	chr4	80362752	.	A	G	572.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=722;ExcessHet=0.0000;FS=1.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.85;ReadPosRankSum=-5.300e-02;SOR=1.201	GT:AD:DP:GQ:PL	0/1:13,21:34:99:587,0,268	20	0	1	0
chr4	82485718	82485718	G	C	exonic	TMEM150C	.	stopgain	TMEM150C:NM_001080506:exon8:c.C543G:p.Y181X	.	.	.	.	.	.	.	.	.	0.0001	0.182	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.931	20.0	-0.524	-0.063	0.904	10.727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1053	421.18	37	chr4	82485718	.	G	C	421.18	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-8.010e-01;DP=774;ExcessHet=0.6776;FS=135.841;InbreedingCoeff=-0.1537;MLEAC=4;MLEAF=0.105;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.439;SOR=7.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,14:42:97:.:.:97,0,305	15	0	4	2
chr4	86753030	86753030	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_080683:exon20:c.G3188A:p.G1063E	.	.	4	1450	65	3	0	71	0.0238977	.	.	709495	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.897	P	0.624	P	0.001	U	1.000	D	1.78	L	0.75	T	-0.936	T	0.118	T	0.163	0.725	7.854	4.12	1.220	3.343	9.523	0.075	.	0.0051	0.00599042	0.0072	0.0016	0.0023	0.0001	0.0014	0.0058	0.0046	0.0257	0.0067593	1045	154602	rs61757792	0.0076	0.0077	0.0070	0.0081	0.0249	0.0074	0.0074	0.0240	0.0237	0.0012	0.0022	0.0079	7.603e-05	0.0018	0.0101	0.0071	0.0075	0.0249	0.0048	0.0049	0.0046	0.0050	0.0264	0.0045	0.0044	0.0226	0.0212	0.0014	0	0.0044	0.0069	0	0.0014	0	0.0064	0.0052	0.0264	0.072	0.34982	T	0.015	0.61642	D	0.897	0.49385	P	0.624	0.51529	P	0.001153	0.40056	U	0.000000	0.97235	0.81001	D	1.935	0.51832	L	0.75	0.51228	T	-2.13	0.48354	N	0.375	0.41952	-0.9357	0.43288	T	0.118	0.41451	T	10	0.007902771	0.00179	T	.	.	.	0.075	0.21907	.	.	0.631643887469	0.62863	0.36882168391493325	0.36796	0.0557682884687	0.06166	0.54100227356	0.44587	T	0.089488	0.38383	T	-0.472092	0.00825	T	-0.433318	0.29558	T	0.0327344485482899	0.02427	T	0.778122	0.41194	T	0.12600833	0.29525	0.18099791	0.40935	0.12600833	0.29525	0.18099791	0.40935	-3.895	0.22227	T	.	.	0.150	0.39477	B	.;.;.	.;.;.	4.097530	0.61070	24.3	0.86576947811205285	0.16629	0.82451	0.41677	D	AEFGBI	0.211529	0.33731	N	0.0797420084746258	0.45518	2.807024	0.0835819587956253	0.43722	2.66822	0.00666001195444328	0.11274	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	4.96	4.12	0.47504	3.392000	0.52279	11.824000	0.97325	-0.135000	0.12811	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.1714:0.0:0.8286:0.0	9.523	0.38314	856	0.34373	.;.;.	.	.	.	.	.	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	0.04762	3408.11	34	chr4	86753030	.	G	A	3408.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.05;DP=985;ExcessHet=0.1072;FS=1.903;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=0.791;SOR=0.615	GT:AD:DP:GQ:PL	0/1:86,64:150:99:1630,0,2304	19	0	2	0
chr4	87615730	87615733	ATAG	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	.	983	222	100	33	184	350	0.272131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	6438.4	35	chr4	87615730	.	ATAG	A,*	6438.4	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=2.60;DP=1174;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.85;MQRankSum=-3.073e+00;QD=6.83;ReadPosRankSum=1.06;SOR=0.767	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,45,0:45:99:1|1:87615730_ATAG_A:1940,136,0,1538,141,1530:87615730	0	2	2	0
chr4	87615734	87615767	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	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	.	1008	200	99	33	182	347	0.292035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	5806.96	35	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	C,*	5806.96	.	AC=12,23;AF=0.286,0.548;AN=42;BaseQRankSum=1.10;DP=1195;ExcessHet=2.5830;FS=1.919;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=57.82;MQRankSum=-3.073e+00;QD=6.42;ReadPosRankSum=0.870;SOR=0.774	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,23,0:23:85:1|1:87615730_ATAG_A:1940,136,0,1063,85,1209:87615730	0	2	2	0
chr4	87615936	87615936	A	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	.	1110	191	63	131	27	352	0.459689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	4716.91	13	chr4	87615936	.	A	G,*	4716.91	.	AC=11,7;AF=0.458,0.292;AN=24;BaseQRankSum=1.09;DP=703;ExcessHet=0.4078;FS=6.971;InbreedingCoeff=0.0517;MLEAC=16,10;MLEAF=0.667,0.417;MQ=57.27;MQRankSum=-3.640e+00;QD=9.93;ReadPosRankSum=0.431;SOR=1.090	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,21,0:21:63:1|1:87615883_A_G:945,63,0,945,63,945:87615883	0	3	4	9
chr4	87615956	87615956	T	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	3111.82	11	chr4	87615956	.	T	C,*	3111.82	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=1.06;DP=620;ExcessHet=2.6845;FS=12.079;InbreedingCoeff=-0.0149;MLEAC=17,9;MLEAF=0.708,0.375;MQ=57.02;MQRankSum=-4.168e+00;QD=7.06;ReadPosRankSum=-1.842e+00;SOR=1.055	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,15,0:15:45:1|1:87615883_A_G:675,45,0,675,45,675:87615883	0	3	5	9
chr4	87615962	87615962	C	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	.	1185	208	24	81	24	210	0.30897	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	3076.15	8	chr4	87615962	.	C	T,*	3076.15	.	AC=12,6;AF=0.462,0.231;AN=26;BaseQRankSum=0.443;DP=591;ExcessHet=0.7589;FS=9.385;InbreedingCoeff=0.0947;MLEAC=17,8;MLEAF=0.654,0.308;MQ=56.96;MQRankSum=-4.002e+00;QD=7.24;ReadPosRankSum=-1.720e+00;SOR=0.974	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,11,0:11:33:1|1:87615883_A_G:495,33,0,495,33,495:87615883	1	4	4	8
chr4	87615971	87615971	C	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	.	1193	243	20	43	23	129	0.179054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7083	1753.25	7	chr4	87615971	.	C	T,*	1753.25	.	AC=11,6;AF=0.458,0.250;AN=24;BaseQRankSum=0.430;DP=572;ExcessHet=0.9330;FS=12.644;InbreedingCoeff=-0.0283;MLEAC=16,9;MLEAF=0.667,0.375;MQ=57.48;MQRankSum=-4.485e+00;QD=4.26;ReadPosRankSum=-1.839e+00;SOR=1.150	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,8,0:8:24:1|1:87615883_A_G:360,24,0,360,24,360:87615883	0	3	5	9
chr4	88479413	88479413	C	T	exonic	HERC5	.	nonsynonymous SNV	HERC5:NM_016323:exon13:c.C1643T:p.T548I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.014	B	0.017	B	0.293	N	1.000	N	0.805	L	1.23	T	-1.011	T	0.061	T	0.101	1.462	10.83	-2.94	-0.589	-0.937	7.553	0.022	0.00639344397141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	1.161e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.182	0.21801	T	0.223	0.35082	T	0.014	0.16867	B	0.017	0.18140	B	0.293017	0.03906	N	1.509860	1	0.08975	N	0.75	0.19020	N	1.18	0.37746	T	-3.17	0.66436	D	0.118	0.10769	-1.0110	0.26604	T	0.061	0.25599	T	10	0.07989028	0.12903	T	0.006393	0.16812	T	0.022	0.04323	0.492	0.57890	0.317378411342	0.31341	0.14304162160210399	0.14227	0.289108693638	0.31315	0.325938999653	0.14320	T	0.29077	0.66354	T	-0.294502	0.09188	T	-0.660808	0.08212	T	0.0649893581867218	0.07930	T	0.351965	0.10319	T	0.05585981	0.10912	0.09094519	0.21356	0.05585981	0.10912	0.09094519	0.21356	-4.604	0.32222	T	.	.	0.166	0.40328	B	.;.	.;.	-0.247997	0.02853	0.402	0.97375867339527744	0.33647	0.00977	0.03727	N	AEFDBI	0.028562	0.02539	N	-1.28226001168528	0.03889	0.1745493	-1.33546604418693	0.03980	0.1867894	0.989836303408735	0.31950	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	4.82	-2.94	0.05245	-1.189000	0.03170	-0.426000	0.09253	-0.376000	0.05418	0.000000	0.06391	0.000000	0.08366	0.333000	0.25271	0.2412:0.4996:0.2592:0.0	7.553	0.26978	812	0.42537	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1062.98	39	chr4	88479413	.	C	T	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=872;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.51;ReadPosRankSum=0.528;SOR=0.572	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1077,0,797	20	0	1	0
chr4	99139071	99139071	C	T	exonic	ADH4	.	nonsynonymous SNV	ADH4:NM_000670:exon4:c.G340A:p.G114R	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.594	P	0.136	B	0.592	N	1.000	N	1.15	L	3.99	T	-0.941	T	0.010	T	0.405	1.202	9.882	-0.112	-0.168	-0.766	5.981	0.062	0.00511261266127	.	.	2.576e-05	9.895e-05	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs763541504	1.233e-05	1.231e-05	5.452e-06	1.927e-05	0.0002	7.71e-06	6.36e-06	0.0001	9.473e-05	0	0	0	0	0	0	1.801e-06	0	0.0002	4.598e-05	4.593e-05	2.571e-05	6.717e-05	0.0015	2.109e-05	1.526e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	0.596	0.36912	T	0.484	0.12176	T	0.594	0.39171	P	0.136	0.33270	B	0.591945	0.05597	N	1.376800	0.999998	0.08975	N	0.27	0.09956	N	3.99	0.03268	T	0.53	0.19720	N	0.33	0.37820	-0.9411	0.42442	T	0.010	0.03765	T	10	0.055310756	0.06026	T	0.005113	0.12970	T	0.062	0.17934	0.256	0.19689	0.295974979623	0.29207	0.49021192052141105	0.48941	0.0888396925731	0.10049	0.307934731245	0.11595	T	0.006828	0.15712	T	-0.418552	0.01747	T	-0.579318	0.14605	T	0.0415604308308766	0.03974	T	0.733627	0.85835	T	0.095760666	0.22543	0.0740422	0.16156	0.095760666	0.22543	0.0740422	0.16156	-2.906	0.09203	T	.	.	0.18	0.50618	B	.;.;.;.;.;.	.;.;.;.;.;.	0.672547	0.10411	7.133	0.82176856960057754	0.14057	0.09077	0.14904	N	AEFCI	0.405713	0.47849	N	-0.773518718982259	0.14002	0.6940676	-0.844497403718412	0.13420	0.696055	0.103589725518257	0.16451	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	-0.112	0.12910	-0.972000	0.03912	-1.915000	0.04503	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.963000	0.52385	0.0:0.4246:0.3087:0.2667	5.981	0.18641	762	0.50290	.;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Polyketide synthase, enoylreductase domain;.;Alcohol dehydrogenase, N-terminal;Alcohol dehydrogenase, N-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	1	0	0	0	0.02381	893.98	34	chr4	99139071	.	C	T	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.451e+00;DP=767;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.264;SOR=0.571	GT:AD:DP:GQ:PL	0/1:32,36:68:99:908,0,864	20	0	1	0
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.973	D	0.964	D	0.274	N	0.986	N	1.745	L	3.67	T	-1.090	T	0.040	T	0.61	3.658	18.60	2.36	0.190	4.136	8.164	0.203	0.00535122917252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.83351	D	.	.	.	.	.	.	0.274284	0.15067	N	0.646799	0.986388	0.24621	N	.	.	.	3.67	0.04188	T	-2.9	0.60827	D	0.403	0.44379	-1.0901	0.05515	T	0.040	0.17404	T	10	0.78878886	0.78477	D	0.005351	0.13710	T	0.203	0.48915	0.793	0.91438	0.298403945805	0.29456	0.868512317625715	0.86816	0.674296566844	0.59635	0.391434371471	0.23871	T	0.010873	0.09774	T	-0.116403	0.33711	T	-0.404982	0.32804	T	0.962773263454437	0.66465	D	0.949205	0.80472	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.888	0.85099	P	.;.;.;.	.;.;.;.	3.508601	0.49119	22.7	0.99207734913482859	0.55472	0.90290	0.51349	D	AEFDGBI	0.896173	0.83696	D	-0.172128327332495	0.34298	1.956007	-0.333588702841019	0.27021	1.496536	0.828569575732975	0.24652	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.17	2.36	0.28258	3.367000	0.52075	3.858000	0.40123	-0.233000	0.07663	0.778000	0.29449	0.208000	0.23622	0.125000	0.19370	0.168:0.7474:0.0:0.0847	8.164	0.30373	624	0.65661	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;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.45	6049.22	166	chr4	99318097	.	C	G	6049.22	.	AC=18;AF=0.450;AN=40;BaseQRankSum=-2.037e+00;DP=3479;ExcessHet=30.0624;FS=302.606;InbreedingCoeff=-0.7873;MLEAC=19;MLEAF=0.475;MQ=59.97;MQRankSum=0.00;QD=2.22;ReadPosRankSum=-1.750e-01;SOR=13.960	GT:AD:DP:GQ:PL	0/1:94,61:155:99:445,0,1491	2	0	18	1
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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	6153.33	123	chr4	99347057	.	C	G	6153.33	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-8.170e-01;DP=2885;ExcessHet=20.9642;FS=293.864;InbreedingCoeff=-0.6783;MLEAC=17;MLEAF=0.425;MQ=59.97;MQRankSum=0.00;QD=3.24;ReadPosRankSum=-6.350e-01;SOR=13.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:61,58:119:99:.:.:679,0,759	4	0	16	1
chr4	99542101	99542101	C	T	exonic	C4orf17	.	nonsynonymous SNV	C4orf17:NM_032149:exon9:c.C1072T:p.R358W,	.	.	435	1083	4	0	0	4	0.00184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.993	D	0.533	P	0.009	N	1.000	N	0.345	N	2.15	T	-1.075	T	0.037	T	0.204	2.586	14.61	0.095	0.070	0.182	1.857	0.126	.	0.0008	0.00359425	0.0021	0.0003	0.0003	0.0001	0.0008	0.0009	0.0033	0.0111	0.0019857	307	154602	rs149137653	0.0012	0.0012	0.0010	0.0015	0.0105	0.0012	0.0012	0.0099	0.0097	0.0001	8.95e-05	3.828e-05	0	0.0004	0.0005	0.0007	0.0016	0.0105	0.0008	0.0008	0.0008	0.0008	0.0104	0.0007	0.0006	0.0081	0.0073	0.0003	0	6.544e-05	0	0.0002	9.441e-05	0	0.0008	0.0009	0.0104	0.014	0.53172	D	0.046	0.49120	D	0.993	0.65571	D	0.533	0.48638	P	0.008809	0.01219	N	2.760680	1	0.08975	N	0.345	0.11182	N	2.15	0.19311	T	-0.94	0.25118	N	0.159	0.16586	-1.0752	0.08307	T	0.037	0.16029	T	10	0.006217152	0.00140	T	.	.	.	0.126	0.34673	.	.	0.397838977388	0.39401	0.10969800865057826	0.10898	0.370849021101	0.38592	.	.	.	8.84E-4	0.00449	T	-0.607423	0.00131	T	-0.634909	0.10045	T	0.0314695977740869	0.02221	T	0.481652	0.14579	T	0.05403122	0.10310	0.033223383	0.02182	0.05403122	0.10310	0.033223383	0.02182	-4.754	0.34050	T	.	.	0.092	0.13783	B	.	.	2.091905	0.26615	17.18	0.99273845141387262	0.57661	0.02857	0.07619	N	AEFI	0.060991	0.11628	N	-0.691733510031647	0.16256	0.8265938	-0.836452262251772	0.13614	0.7071709	9.30415824701304E-5	0.04910	0.500041	0.20204	0	0.573888	0.26702	0	0.573888	0.23631	0	0.503917	0.08554	0	.	.	4.95	0.095	0.13792	-0.006000	0.12769	0.186000	0.15687	-0.214000	0.08267	0.001000	0.13787	0.003000	0.18671	0.015000	0.10482	0.1535:0.3749:0.2987:0.173	1.857	0.02988	945	0.12563	.	.	.	.	.	.	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	0.02381	538.98	34	chr4	99542101	.	C	T	538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.57;ReadPosRankSum=0.919;SOR=0.675	GT:AD:DP:GQ:PL	0/1:30,21:51:99:553,0,717	20	0	1	0
chr4	99589739	99589739	A	G	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_001300785:exon4:c.A571G:p.T191A	Abetalipoproteinemia, Autosomal recessive	YES	1	1519	2	0	0	2	0.000657895	.	.	294774	Inborn_genetic_diseases|Abetalipoproteinaemia|not_provided	MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0008181,MONDO:MONDO:0008692,MedGen:C0000744,OMIM:200100,Orphanet:14|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.66	T	0.454	P	0.266	B	0.004	N	1.000	N	1.87	L	3.57	T	-1.004	T	0.103	T	0.139	2.091	12.95	5.35	2.034	2.370	9.832	0.116	.	.	0.00219649	0.0012	0	8.658e-05	0.0001	0	0	0.0011	0.0083	0.0010414	161	154602	rs563558722	0.0005	0.0005	0.0003	0.0007	0.0075	0.0005	0.0004	0.0070	0.0068	0	0	0	5.082e-05	0	0.0005	2.783e-06	0.0009	0.0075	0.0002	0.0002	0.0001	0.0003	0.0068	0.0002	0.0001	0.0050	0.0044	0	0	0	0	0	0	0	0	0	0.0068	0.049	0.39820	D	0.026	0.55759	D	0.32	0.36182	B	0.248	0.39732	B	0.003931	0.34318	N	0.350500	1	0.08975	N	2.595	0.75868	M	3.57	0.40218	T	-0.71	0.20145	N	0.066	0.03841	-1.0043	0.28666	T	0.103	0.37994	T	10	0.008355707	0.00189	T	.	.	.	0.116	0.32463	0.74	0.87232	0.729283302134	0.72687	0.25658072981139496	0.25572	0.234622177888	0.26005	0.372658371925	0.21212	T	0.024116	0.48360	T	-0.529612	0.00386	T	-0.527272	0.19561	T	0.0474630555498203	0.05047	T	0.710029	0.32075	T	0.07242822	0.16112	0.10499231	0.25231	0.06801668	0.14780	0.085958354	0.19882	-3.595	0.17785	T	0.1761429023048341	0.22461	0.097	0.15966	B	.;.;.;.	.;.;.;.	2.839999	0.37468	20.5	0.99253279257682203	0.56957	0.38372	0.25973	N	AEFI	0.262441	0.38019	N	-0.083355452921953	0.38122	2.227979	-0.0019902160931826	0.39626	2.35236	0.0085393129545243	0.11694	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	1.860000	0.39068	6.938000	0.56982	0.756000	0.94297	0.229000	0.24633	1.000000	0.68203	0.998000	0.85391	0.7341:0.0:0.0:0.2658	9.832	0.40114	925	0.17918	.;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal;Lipid transport protein, N-terminal|Lipid transport protein, N-terminal|Lipid transport protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	517.98	34	chr4	99589739	.	A	G	517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.170e-01;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.16;ReadPosRankSum=0.580;SOR=0.746	GT:AD:DP:GQ:PL	0/1:29,22:51:99:532,0,832	20	0	1	0
chr4	101196011	101196011	C	G	exonic	PPP3CA	.	nonsynonymous SNV	PPP3CA:NM_000944:exon2:c.G164C:p.R55T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.988	D	0.000	D	1.000	D	3.525	H	3.41	T	0.511	D	0.660	D	0.889	3.815	19.37	5.65	2.824	7.496	19.084	0.561	0.243660755304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.021	0.79402	D	0.998	0.73220	D	0.975	0.73362	D	0.000004	0.62929	D	0.056881	0.999999	0.81001	D	3.325	0.90780	M	3.41	0.70365	T	-3.5	0.88148	D	0.874	0.87157	0.511	0.90696	D	0.660	0.88193	D	10	0.82876897	0.82046	D	0.243661	0.88811	D	0.561	0.82003	0.413	0.45052	0.874410110515	0.87318	0.9160898921350675	0.91583	2.69341285729	0.98560	0.813101530075	0.83969	D	0.783131	0.94293	D	0.365848	0.87692	D	0.287739	0.87534	D	0.98066520690918	0.73482	D	0.997593	0.99042	D	0.93468946	0.94708	0.8180235	0.89412	0.93468946	0.94709	0.8180235	0.89413	-3.957	0.99447	T	0.7273859440343144	0.80888	0.972	0.95832	P	.;.;.;.;.;.	.;.;.;.;.;.	4.473321	0.69731	25.4	0.96904989471550151	0.31554	0.98495	0.83383	D	AEFBI	0.911333	0.87045	D	0.976696518006935	0.94982	13.20586	0.918319001961986	0.96323	14.55806	1.0	0.98316	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.65	5.65	0.86881	7.624000	0.82310	7.603000	0.61629	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.084	0.93179	946	0.12043	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	534.79	173	chr4	101196011	.	C	G	534.79	.	AC=5;AF=0.357;AN=14;BaseQRankSum=-2.373e+00;DP=2716;ExcessHet=1.1607;FS=204.564;InbreedingCoeff=-0.4002;MLEAC=9;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.07;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:117,42:159:50:.:.:50,0,2384	2	0	5	14
chr4	119271801	119271801	G	C	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.G1788C:p.K596N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.82	P	0.035	N	0.786	D	2.015	M	0.48	T	-0.407	T	0.243	T	0.062	4.042	20.7	3.71	1.263	1.359	9.652	0.112	0.0273671481651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.025	0.56192	D	0.998	0.73220	D	0.82	0.59072	P	0.035464	0.24640	N	0.405874	0.786313	0.34330	D	2.585	0.75554	M	0.48	0.55945	T	-1.65	0.39503	N	0.403	0.44379	-0.4066	0.71818	T	0.243	0.61142	T	10	0.2934904	0.46923	T	0.027367	0.50187	D	0.112	0.31546	0.179	0.08626	0.68695168648	0.68427	0.14079476716113953	0.14002	0.636712139675	0.57440	0.475926458836	0.35496	T	0.095754	0.39686	T	-0.159747	0.26799	T	-0.467242	0.25814	T	0.965206325054169	0.67194	D	0.876112	0.58827	D	0.22674352	0.45361	0.18983121	0.42352	0.22674352	0.45362	0.18983121	0.42351	-6.968	0.53800	T	.	.	0.529	0.65890	A	.;.	.;.	3.288410	0.45089	22.1	0.99870641327622545	0.94815	0.94427	0.61130	D	AEFDBI	0.426737	0.49097	N	0.437979510911287	0.63525	4.587841	0.405475257690823	0.61905	4.397378	0.999808580347288	0.43304	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.47	3.71	0.41733	1.781000	0.38274	2.576000	0.33390	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.2234:0.0:0.7766:0.0	9.652	0.39066	546	0.72524	.;.	.	.	.	.	.	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	0.1923	286.74	129	chr4	119271801	.	G	C	286.74	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-3.983e+00;DP=2647;ExcessHet=1.1607;FS=242.086;InbreedingCoeff=-0.2765;MLEAC=7;MLEAF=0.269;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=1.51;SOR=10.248	GT:AD:DP:GQ:PL	0/1:123,31:154:68:68,0,3527	8	0	5	8
chr4	121801465	121801465	T	C	exonic	EXOSC9	.	nonsynonymous SNV	EXOSC9:NM_001034194:exon1:c.T41C:p.L14P	.	YES	433	1088	1	0	0	1	0.000459348	.	.	540570	not_provided|Pontocerebellar_hypoplasia,_type_1D|Cerebral_atrophy	MedGen:C3661900|MONDO:MONDO:0054844,MedGen:C4748058,OMIM:618065|Human_Phenotype_Ontology:HP:0002059,Human_Phenotype_Ontology:HP:0002422,Human_Phenotype_Ontology:HP:0006890,MedGen:C0235946	criteria_provided,_multiple_submitters,_no_conflicts	Pathogenic/Likely_pathogenic	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.52	M	0.79	T	-0.341	T	0.325	T	0.859	4.831	27.4	5.83	2.224	6.955	15.197	0.606	0.204437684395	0.0002	0.000199681	4.947e-05	0.0006	0	0	0	0	0	0	4.53e-05	7	154602	rs139632595	2.805e-05	2.805e-05	3.948e-05	1.65e-05	0.0011	2.086e-05	1.878e-05	0.0008	0.0007	0.0011	2.236e-05	0	0	0	0	0	6.623e-05	0	0.0002	0.0002	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0006	0.0009	0	6.534e-05	0	0	0	0	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.88582	D	0.000025	0.55875	D	0.072740	1	0.81001	D	2.905	0.84014	M	0.79	0.49068	T	-4.15	0.76655	D	0.871	0.87373	-0.3410	0.73814	T	0.325	0.69376	T	10	0.632215	0.68581	D	0.204438	0.86931	D	0.606	0.84506	.	.	0.718868093771	0.71639	0.9487137895124373	0.94854	0.489470635686	0.47710	0.872409939766	0.92911	D	0.41022	0.76503	T	-0.0233605	0.48372	T	0.116963	0.78033	D	0.88196849822998	0.53205	D	0.893011	0.66210	D	0.97871554	0.99010	0.9496481	0.98378	0.9802476	0.99129	0.9345446	0.97405	-13.708	0.92069	D	0.8318251000657702	0.90245	0.987	0.92791	P	.;.;.	.;.;.	5.347467	0.89711	31	0.99903382997254697	0.97502	0.89794	0.50492	D	AEFGBHCIJ	0.858075	0.77553	D	0.793359652612978	0.85689	8.651431	0.753850488408733	0.86442	8.891298	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.83	5.83	0.93059	6.931000	0.75678	7.769000	0.68436	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.463000	0.28185	0.0:0.0:0.0:1.0	15.197	0.72782	825	0.40060	.;.;.	.	.	.	.	.	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	0.04762	4401.08	34	chr4	121801465	.	T	C	4401.08	.	AC=2;AF=0.048;AN=42;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.94;SOR=0.912	GT:AD:DP:GQ:PL	1/1:0,147:149:99:4429,441,0	20	1	0	0
chr4	127704250	127704250	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1526C:p.R509T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.710	T	0.210	T	0.865	4.782	26.9	5.14	2.672	9.131	18.401	0.586	0.028113303493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.136e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	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	2.74	0.80084	M	1.53	0.30401	T	-4.06	0.74582	D	0.921	0.92433	-0.7100	0.59952	T	0.210	0.56933	T	10	0.910342	0.90399	D	0.028113	0.50841	D	0.586	0.83416	0.685	0.82271	0.675445021942	0.67269	0.7804156638025578	0.77992	0.662293056713	0.58963	0.714659333229	0.69269	T	0.849206	0.96552	D	0.208191	0.74660	D	0.0612757	0.74330	D	0.997202515602112	0.91010	D	0.935406	0.75832	D	0.54776746	0.69831	0.38335246	0.63301	0.54776746	0.69832	0.38335246	0.63301	-13.879	0.92657	D	0.7325577997116286	0.81429	0.848	0.79668	P	.	.	4.810719	0.78262	26.9	0.98569775045103225	0.43089	0.99344	0.94786	D	AEFI	0.872518	0.79441	D	0.873817251556548	0.90420	10.396	0.84368298210705	0.92643	11.54514	0.999999617710239	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	9.249000	0.94640	11.731000	0.94998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.401	0.90461	897	0.25382	.	.	.	.	.	.	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	0.09524	208.91	41	chr4	127704250	.	G	C	208.91	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.952e+00;DP=972;ExcessHet=0.6776;FS=194.263;InbreedingCoeff=-0.1052;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.184;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,11:55:28:0|1:127704250_G_C:28,0,1363:127704250	17	0	4	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.28	M	1.53	T	-0.921	T	0.161	T	0.943	3.733	18.96	1.26	-0.003	2.018	9.093	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	374.38	39	chr4	127704251	.	G	C	374.38	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.953e+00;DP=1018;ExcessHet=1.1607;FS=220.307;InbreedingCoeff=-0.1538;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.794;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,11:55:28:0|1:127704250_G_C:28,0,1363:127704250	15	0	5	1
chr4	139730437	139730439	CTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2310del:p.Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,68,0:68:99:3019,205,0,3019,205,3019	0	20	0	0
chr4	139730431	139730439	CTGCTGCTG	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon3:c.2308_2316del:p.Q770_Q772del,	.	.	0	0	0	225	1	451	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0003	0	0	1.94e-05	3	154602	rs760330670	0.0001	0.0002	0.0001	0.0001	0.0001	9.839e-05	9.263e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0.0001	5.542e-05	4.047e-05	0.0001	0.0001	0.0002	0.0001	0.0002	9.181e-05	7.731e-05	0.0001	0.0001	0.0001	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	76395.26	66	chr4	139730430	.	TCTGCTGCTG	TCTGCTG,T	76395.26	.	AC=41,1;AF=0.976,0.024;AN=42;BaseQRankSum=-1.573e+00;DP=1994;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;MQRankSum=0.00;QD=28.49;ReadPosRankSum=0.778;SOR=0.141	GT:AD:DP:GQ:PL	1/1:0,68,0:68:99:3019,205,0,3019,205,3019	0	20	0	0
chr4	140464980	140464980	A	G	exonic	MGAT4D	.	nonsynonymous SNV	MGAT4D:NM_001277353:exon6:c.T602C:p.L201S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	D	.	.	0.45	T	-0.395	T	0.278	T	0.861	3.953	20.2	5.36	2.007	5.198	14.323	0.464	0.0615373783018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.917061	0.81001	D	.	.	.	0.45	0.56446	T	-5.46	0.86608	D	0.804	0.82057	-0.3953	0.72175	T	0.278	0.65027	T	6	0.9327965	0.92615	D	0.061537	0.68362	D	0.464	0.76023	0.815	0.92992	0.582701273649	0.57942	0.6558759089881145	0.65523	.	.	0.383704960346	0.22781	T	0.339967	0.70905	T	0.262189	0.79731	D	0.13884	0.79468	D	0.993910431861877	0.84922	D	0.620138	0.23804	T	0.6921496	0.77628	0.80953187	0.88871	0.6921496	0.77629	0.80953187	0.88871	-12.04	0.85045	D	.	.	0.850	0.84623	P	.;.;.	.;.;.	4.771992	0.77261	26.7	0.99866968982202131	0.94457	0.92451	0.55742	D	AEFBI	0.400452	0.47533	N	0.301820736202572	0.56242	3.788608	0.354710342508624	0.58793	4.052024	0.997157049480512	0.35326	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.36	5.36	0.76624	5.815000	0.68892	10.712000	0.83609	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	1.0:0.0:0.0:0.0	14.323	0.66060	711	0.56613	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	486.98	35	chr4	140464980	.	A	G	486.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-6.810e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:18,18:36:99:501,0,403	20	0	1	0
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.949	P	0.761	P	0.009	N	1.000	N	2.97	M	-1.23	T	-0.477	T	0.493	T	0.582	1.307	10.28	0.338	-0.014	1.889	3.693	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	.	.	.	.	.	.	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	0.4762	8657.43	102	chr4	140563137	.	C	G	8657.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.013e+00;DP=2157;ExcessHet=43.6797;FS=230.561;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.52;ReadPosRankSum=-6.060e-01;SOR=13.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,35:98:99:.:.:704,0,1715	1	0	20	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.004	B	0.007	B	0.003	N	1.000	N	0.365	N	-1.27	T	-1.011	T	0.158	T	0.095	-1.272	0.044	-1.38	-0.574	-0.505	2.216	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	.	.	.	.	.	.	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	0.4762	8407.43	102	chr4	140563138	.	C	G	8407.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.724e+00;DP=2172;ExcessHet=43.6797;FS=230.605;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=4.60;ReadPosRankSum=-5.480e-01;SOR=12.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,35:98:99:.:.:704,0,1715	1	0	20	0
chr4	143697457	143697457	G	0	exonic	FREM3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	94707.57	120	chr4	143697457	.	G	C,*	94707.57	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=60.00;QD=32.86;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,158,0:158:99:.:.:5387,475,0,5387,475,5387	0	20	0	0
chr4	146639314	146639314	-	GGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGC:p.G68_R69insG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772231658	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:12,33,0,0,0:45:99:1167,0,391,1204,489,1693,1204,489,1693,1693,1204,489,1693,1693,1693	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGCGGC:p.G68_R69insGGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:12,33,0,0,0:45:99:1167,0,391,1204,489,1693,1204,489,1693,1693,1204,489,1693,1693,1693	0	10	4	0
chr4	146639314	146639314	-	GGCGGCGGC	exonic	POU4F2	.	nonframeshift insertion	POU4F2:NM_004575:exon1:c.174_175insGGCGGCGGC:p.G68_R69insGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	40559.42	54	chr4	146639305	.	TGGCGGCGGC	TGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,T,TGGCGGCGGCGGCGGCGGC	40559.42	.	AC=30,1,6,1;AF=0.714,0.024,0.143,0.024;AN=42;BaseQRankSum=-1.046e+00;DP=1520;ExcessHet=0.6776;FS=1.031;InbreedingCoeff=-0.1053;MLEAC=30,1,6,1;MLEAF=0.714,0.024,0.143,0.024;MQ=59.99;MQRankSum=0.00;QD=34.88;ReadPosRankSum=-1.680e-01;SOR=0.491	GT:AD:DP:GQ:PL	0/1:12,33,0,0,0:45:99:1167,0,391,1204,489,1693,1204,489,1693,1693,1204,489,1693,1693,1693	0	10	4	0
chr4	151226083	151226083	C	T	exonic	SH3D19	.	nonsynonymous SNV	SH3D19:NM_001378121:exon2:c.G116A:p.R39H	.	.	1197	315	6	4	0	14	0.0217391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0485224	.	.	.	.	.	.	.	.	0.0024321	376	154602	rs371652018	0.0045	0.0035	0.0041	0.0050	0.2094	0.0044	0.0044	0.2041	0.2019	0.0007	0.0002	0.0007	0.0003	0	0.0089	0.0003	0.0115	0.2094	0.0074	0.0074	0.0039	0.0110	0.2154	0.0070	0.0068	0.2045	0.2001	0.0009	0	0.0002	0.0003	0.0008	9.43e-05	0.0034	0.0004	0.0028	0.2154	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1.60554e-35	0.81001	P	.	.	.	.	.	.	.	.	.	0.151	0.15469	.	.	.	.	.	.	.	0.0015856624	0.00018	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.680532	0.28920	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.44397	B	.	.	3.147079	0.42591	21.6	0.94374952466773865	0.24744	0.84785	0.43874	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999999959241	0.74766	0.262962	0.04601	0	0.063388	0.01293	0	0.292756	0.05521	0	0.159066	0.04077	0	0.98146	0.87219	5.92	5.92	0.95557	2.389000	0.44060	2.202000	0.31296	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.094	0.89410	449	0.79428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	5138.44	37	chr4	151226083	.	C	T	5138.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.368;DP=1017;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-1.150e+00;SOR=0.709	GT:AD:DP:GQ:PL	0/1:34,41:75:99:1083,0,865	16	0	5	0
chr4	152974687	152974687	C	T	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.C1396T:p.R466W	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.825	M	-0.04	T	0.088	D	0.472	T	0.83	2.144	13.13	3.95	1.413	1.582	14.206	0.467	.	7.7e-05	0.00698882	0.0028	0	0.0003	0.0014	0	7.889e-05	0.0052	0.0318	0.0025291	391	154602	rs142586053	0.0015	0.0015	0.0009	0.0020	0.0252	0.0014	0.0014	0.0242	0.0238	0.0001	6.957e-05	0.0005	0.0010	0	0.0018	9.044e-05	0.0019	0.0252	0.0010	0.0010	0.0007	0.0013	0.0251	0.0008	0.0008	0.0215	0.0201	4.811e-05	0	6.533e-05	0.0003	0.0031	0	0	5.881e-05	0.0009	0.0251	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000010	0.62929	D	0.112779	0.999998	0.58761	D	2.895	0.83812	M	-0.04	0.63240	T	-8.0	0.96495	D	0.79	0.78737	0.088	0.83950	D	0.472	0.79690	T	10	0.0065909326	0.00149	T	.	.	.	0.467	0.76222	.	.	0.452072420954	0.44828	0.7129211247751294	0.71234	0.565826034323	0.52905	0.407651245594	0.26132	T	0.180972	0.53249	T	-0.134735	0.30732	T	0.0566835	0.74025	D	0.166214714258909	0.18318	T	0.946205	0.79443	D	0.7856834	0.83005	0.44014558	0.67343	0.7856834	0.83006	0.44014558	0.67343	-8.697	0.65726	D	.	.	0.294	0.53198	B	.;.	.;.	4.091796	0.60950	24.3	0.99795064828813373	0.88017	0.89766	0.50444	D	AEFDBCI	0.766168	0.70243	D	0.196848174771789	0.51047	3.289249	0.0548129973503038	0.42304	2.556529	0.999994436607044	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.75	3.95	0.44952	1.624000	0.36629	2.252000	0.31695	-0.224000	0.07868	0.877000	0.30928	0.982000	0.30508	0.005000	0.06747	0.5035:0.4965:0.0:0.0	14.206	0.65274	869	0.31655	Formin, FH2 domain|Formin, FH2 domain;Formin, FH2 domain|Formin, FH2 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	0.02381	748.98	35	chr4	152974687	.	C	T	748.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.34;DP=750;ExcessHet=0.0000;FS=5.536;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=2.00;SOR=1.470	GT:AD:DP:GQ:PL	0/1:29,27:56:99:763,0,710	20	0	1	0
chr4	152975105	152975105	C	T	exonic	FHDC1	.	nonsynonymous SNV	FHDC1:NM_033393:exon11:c.C1814T:p.S605L	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.111	B	0.019	B	0.909	N	1.000	N	1.32	L	1.32	T	-1.012	T	0.022	T	0.022	1.782	11.92	-1.92	-0.033	0.251	1.852	0.028	.	0.0091	0.00938498	0.0039	0.0297	0.0007	0.0002	0	7.859e-05	0.0011	0.0100	0.0035381	547	154602	rs113529553	0.0013	0.0013	0.0012	0.0015	0.0269	0.0013	0.0013	0.0255	0.0249	0.0269	0.0008	0	5.038e-05	0	0.0012	2.788e-05	0.0023	0.0095	0.0076	0.0076	0.0078	0.0074	0.0258	0.0072	0.0071	0.0245	0.0240	0.0258	0	0.0014	0	0.0004	0	0.0034	5.88e-05	0.0033	0.0104	0.385	0.11015	T	0.147	0.32783	T	0.111	0.26235	B	0.019	0.18783	B	0.909486	0.07406	N	1.045190	0.999994	0.08975	N	1.745	0.45235	L	1.32	0.35219	T	-0.8	0.22078	N	0.083	0.05929	-1.0125	0.26133	T	0.022	0.09238	T	10	0.002305895	0.00034	T	.	.	.	0.028	0.06331	.	.	0.149567049428	0.14543	0.21829054750961446	0.21745	0.103562949394	0.11719	0.26503098011	0.05504	T	0.00431	0.03719	T	-0.683218	0.00046	T	-0.734575	0.04122	T	0.0025808515160708	0.00027	T	0.524548	0.17205	T	0.027238326	0.01887	0.02869339	0.01131	0.027238326	0.01887	0.02869339	0.01130	-3.687	0.19127	T	.	.	0.080	0.07937	B	.;.	.;.	0.592235	0.09609	6.381	0.96555025139822359	0.30240	0.19836	0.20814	N	AEFDBCI	0.121380	0.23600	N	-0.882518830915389	0.11258	0.5423457	-0.946638297000928	0.11000	0.5577707	0.993534371747732	0.33253	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.586402	0.36253	0	.	.	5.37	-1.92	0.07203	0.110000	0.15273	-0.520000	0.08695	-0.172000	0.11096	0.000000	0.06391	0.000000	0.08366	0.192000	0.21661	0.2002:0.4328:0.2002:0.1668	1.852	0.02978	871	0.31377	.;.	.	.	.	.	.	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	0.04762	1881.11	35	chr4	152975105	.	C	T	1881.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.05;DP=859;ExcessHet=0.1072;FS=0.579;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.26;ReadPosRankSum=2.34;SOR=0.778	GT:AD:DP:GQ:PL	0/1:34,33:67:99:950,0,848	19	0	2	0
chr4	163140244	163140244	A	G	exonic	NAF1	.	nonsynonymous SNV	NAF1:NM_001128931:exon5:c.T857C:p.I286T	.	.	.	.	.	.	.	.	.	.	.	2087793	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.896	P	0.654	P	0.000	D	1.000	D	2.14	M	1.32	T	-0.825	T	0.162	T	0.799	3.728	18.93	5.68	2.175	7.991	15.113	0.373	0.0329276939841	.	.	1.652e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs749825432	1.378e-06	1.368e-06	0	2.772e-06	2.395e-05	2.3e-07	9e-08	3.98e-06	1.49e-06	0	0	0	0	0	0	0	0	2.395e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.004	0.74150	D	0.855	0.47121	P	0.58	0.50189	P	0.000255	0.46924	D	0.211210	0.998999	0.47641	D	2.43	0.70455	M	1.32	0.35775	T	-3.95	0.74269	D	0.918	0.92084	-0.8245	0.53651	T	0.162	0.49781	T	10	0.9031539	0.89679	D	0.032928	0.54619	D	0.373	0.69188	0.766	0.89373	0.444421179237	0.44065	0.5447801127974417	0.54404	0.403537357299	0.41286	0.511040985584	0.40369	T	0.165647	0.57681	T	-0.000921721	0.51528	T	-0.053828	0.66760	D	0.836382269859314	0.49035	D	0.90351	0.67223	D	0.33605447	0.55963	0.33591774	0.59400	0.33605447	0.55963	0.33591774	0.59399	-11.289	0.81219	D	.	.	0.747	0.82830	P	.;.;.	.;.;.	4.627726	0.73545	26.0	0.99823586688262222	0.90590	0.99110	0.91373	D	AEBI	0.879489	0.80547	D	0.653327818214026	0.76585	6.513605	0.68165149352608	0.80986	7.42257	0.999969037723791	0.48965	0.706298	0.61202	0	0.708844	0.79440	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.68	5.68	0.88021	7.773000	0.84224	11.173000	0.88038	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	1.0:0.0:0.0:0.0	15.113	0.72054	972	0.05671	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1084.98	35	chr4	163140244	.	A	G	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.846;DP=761;ExcessHet=0.0000;FS=2.228;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=-5.030e-01;SOR=0.399	GT:AD:DP:GQ:PL	0/1:23,39:62:99:1099,0,558	20	0	1	0
chr4	168898668	168898668	T	C	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.T254C:p.M85T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.979	D	0.777	P	0.002	U	1.000	D	-0.545	N	1.65	T	-0.694	T	0.210	T	0.766	-0.222	2.926	5.55	2.107	6.186	15.690	0.279	0.0397687347451	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs781250247	2.07e-06	2.056e-06	4.124e-06	0	2.726e-06	5.5e-07	1.5e-07	7.3e-07	2e-07	0	0	0	0	0	0	2.726e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.486	0.12428	T	0.463	0.23707	T	.	.	.	.	.	.	0.001676	0.38326	U	0.000000	0.999968	0.81001	D	.	.	.	-0.55	0.71068	T	-2.21	0.72594	N	0.834	0.82964	-0.6935	0.60745	T	0.210	0.56933	T	10	0.30150113	0.47692	T	0.039769	0.58997	D	0.279	0.59619	.	.	0.641199583376	0.63823	0.5348204186873708	0.53407	0.808502915327	0.66620	0.717784404755	0.69723	T	0.08085	0.36460	T	0.141406	0.68459	D	-0.0346559	0.68059	D	0.576772583678845	0.35494	D	0.686731	0.31793	T	.	.	.	.	.	.	.	.	-8.267	0.67607	D	.	.	0.751	0.78309	P	.;.;.;.;.;.	.;.;.;.;.;.	4.050325	0.60035	24.2	0.84874175254793893	0.15549	0.97797	0.77204	D	AEFBI	0.776798	0.70979	D	0.146184386989402	0.48631	3.07305	0.269934385284283	0.53793	3.546451	0.99999999424337	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	6.167000	0.71757	6.181000	0.54632	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.742000	0.35507	0.0:0.0:0.0:1.0	15.690	0.77200	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	0	0	0	0	0	0	0	0	0	0	0	0.09524	209.61	37	chr4	168898668	.	T	C	209.61	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.488e+00;DP=1274;ExcessHet=0.6776;FS=85.472;InbreedingCoeff=-0.0993;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.512;SOR=9.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,9:58:5:0|1:168898668_T_C:5,0,1500:168898668	17	0	4	0
chr4	168898669	168898669	G	A	exonic	PALLD	.	nonsynonymous SNV	PALLD:NM_001367567:exon4:c.G255A:p.M85I	.	.	.	.	.	.	.	.	.	.	.	1845107	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.476	P	0.223	B	0.002	U	1.000	D	1.65	L	1.58	T	-0.539	T	0.308	T	0.638	1.750	11.81	5.55	2.607	7.876	19.497	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	845.61	55	chr4	168898669	.	G	A	845.61	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.973e+00;DP=1311;ExcessHet=0.6776;FS=114.106;InbreedingCoeff=-0.0993;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=0.566;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:49,9:58:5:0|1:168898668_T_C:5,0,1500:168898668	17	0	4	0
chr4	174977762	174977762	C	T	exonic	ADAM29	.	nonsynonymous SNV	ADAM29:NM_001278127:exon2:c.C2237T:p.T746M	.	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.991	D	0.5	P	.	.	1.000	N	0	N	4.5	T	-0.850	T	0.005	T	0.236	0.866	8.511	0.582	-0.059	-0.798	6.178	0.053	0.00347788547916	.	.	0.0007	0	0.0004	0	0	0.0005	0.0022	0.0026	7.76e-05	12	154602	rs142711835	0.0004	0.0004	0.0002	0.0005	0.0065	0.0003	0.0003	0.0048	0.0042	0	0.0004	0.0007	0	1.874e-05	0.0065	0.0001	0.0008	0.0029	0.0002	0.0003	0.0002	0.0003	0.0031	0.0002	0.0002	0.0019	0.0016	2.415e-05	0	0.0004	0.0003	0	0	0.0035	0.0002	0.0010	0.0031	0.138	0.25873	T	0.009	0.66756	D	0.991	0.64070	D	0.5	0.47649	P	.	.	.	.	1	0.08975	N	0	0.06538	N	4.5	0.02032	T	-0.17	0.09627	N	0.24	0.27077	-0.8499	0.51975	T	0.005	0.01651	T	8	0.0114863515	0.00251	T	0.003478	0.07878	T	0.053	0.14996	.	.	0.209622950755	0.20551	0.09652196550229174	0.09584	0.0750720904169	0.08422	0.265156507492	0.05521	T	0.002436	0.01826	T	-0.613562	0.00120	T	-0.659663	0.08290	T	0.0399643401919718	0.03683	T	0.585041	0.21304	T	0.016273126	0.00187	0.029660968	0.01328	0.016273126	0.00187	0.029660968	0.01328	-4.435	0.30028	T	.	.	0.077	0.06663	B	.;.;.;.;.;.	.;.;.;.;.;.	0.610561	0.09792	6.556	0.96266335432899974	0.29234	0.00393	0.01973	N	AEFBI	0.024951	0.01629	N	-0.783625961754949	0.13736	0.6788855	-0.979396958444803	0.10248	0.5149442	2.33857128395381E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.54	0.582	0.16594	-0.240000	0.08970	-4.095000	0.02345	0.437000	0.21030	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.802:0.0:0.198	6.178	0.19672	960	0.08626	.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.05	16340.8	38	chr4	174977762	.	C	T	16340.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=1.23;DP=2474;ExcessHet=0.1072;FS=1.108;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=59.99;MQRankSum=0.00;QD=12.66;ReadPosRankSum=0.833;SOR=0.613	GT:AD:DP:GQ:PL	0/1:338,372:710:99:9445,0,8260	18	0	2	1
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.018	B	0.016	B	0.000	D	1.000	D	1.085	L	.	.	-0.916	T	0.201	T	0.066	2.388	13.94	5.98	2.843	4.695	20.437	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	1206.97	34	chr4	176711629	.	G	C	1206.97	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-5.125e+00;DP=1382;ExcessHet=4.7172;FS=102.363;InbreedingCoeff=-0.2644;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.63;ReadPosRankSum=0.755;SOR=10.330	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,19:77:99:0|1:176711629_G_C:348,0,2138:176711629	12	0	9	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	MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.988	D	0.000	D	1.000	D	1.52	L	.	.	-0.325	T	0.394	T	0.926	4.430	23.6	5.98	2.843	9.466	20.437	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	1555.83	65	chr4	176711631	.	G	C	1555.83	.	AC=11;AF=0.324;AN=34;BaseQRankSum=-1.679e+00;DP=1803;ExcessHet=7.7275;FS=101.631;InbreedingCoeff=-0.4496;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=1.71;ReadPosRankSum=0.695;SOR=10.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,19:77:99:0|1:176711629_G_C:348,0,2138:176711629	6	0	11	4
chr4	176727966	176727966	T	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon3:c.A364G:p.I122V,	Lymphedema, hereditary, ID, Autosomal dominant	.	441	1068	12	1	0	14	0.00651163	.	.	981454	Lymphatic_malformation_4	MONDO:MONDO:0014393,MedGen:C4747769,OMIM:615907,Orphanet:79452	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.09	T	0.001	B	0.002	B	0.000	D	1.000	D	2.365	M	.	.	-0.724	T	0.240	T	0.217	1.818	12.04	4.32	1.033	5.941	11.375	0.131	.	.	0.00559105	0.0048	0.0001	0.0003	0	0	0.0001	0.0080	0.0370	0.0039262	607	154602	rs202135883	0.0020	0.0020	0.0010	0.0030	0.0326	0.0019	0.0019	0.0316	0.0312	0	6.833e-05	0	0	1.877e-05	0.0023	3.257e-05	0.0019	0.0326	0.0011	0.0011	0.0006	0.0016	0.0325	0.0009	0.0009	0.0283	0.0267	7.227e-05	0	6.554e-05	0	0	0	0	1.471e-05	0.0005	0.0325	.	.	.	0.027	0.55341	D	0.001	0.07471	B	0.002	0.06944	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.93	0.51437	L	.	.	.	.	.	.	0.402	0.44283	-0.7244	0.59244	T	0.240	0.60774	T	9	0.0046599507	0.00098	T	.	.	.	.	.	0.604	0.73586	0.262175524916	0.25828	0.5995756648524614	0.59888	.	.	0.455484390259	0.32692	T	0.345083	0.71351	T	-0.42664	0.01553	T	-0.361241	0.37908	T	0.0446057844431485	0.04530	T	0.751525	0.37371	T	0.40105188	0.60805	0.20008624	0.43923	0.40105188	0.60805	0.20008624	0.43922	-6.479	0.50124	T	.	.	0.114	0.22644	B	.	.	2.673226	0.34853	19.74	0.99000334636836484	0.50127	0.90773	0.52233	D	AEFBCI	0.810069	0.73341	D	-0.0402052900268502	0.40041	2.371215	0.0552113342501253	0.42325	2.558021	0.999999966167736	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.5	4.32	0.50899	5.897000	0.69569	6.217000	0.55081	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.789000	0.37270	0.0:0.0709:0.0:0.9291	11.375	0.48960	837	0.37933	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	0.02381	948.98	34	chr4	176727966	.	T	C	948.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.48;DP=766;ExcessHet=0.0000;FS=0.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.213;SOR=0.907	GT:AD:DP:GQ:PL	0/1:36,35:71:99:963,0,856	20	0	1	0
chr4	183284277	183284277	C	T	exonic	WWC2	.	nonsynonymous SNV	WWC2:NM_024949:exon19:c.C2935T:p.R979C,	.	.	433	1082	7	0	0	7	0.00322432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.81	M	0.16	T	-0.068	T	0.374	T	0.921	3.630	18.46	5.02	2.607	2.615	18.537	0.370	.	0.0056	0.00299521	0.0038	0.0019	0.0050	0.0001	0.0015	0.0050	0.0055	0.0016	0.0041397	640	154602	rs45470696	0.0059	0.0059	0.0061	0.0058	0.0071	0.0058	0.0058	0.0069	0.0069	0.0007	0.0037	0.0013	2.519e-05	0.0018	0.0010	0.0071	0.0053	0.0019	0.0039	0.0039	0.0042	0.0035	0.0069	0.0036	0.0035	0.0064	0.0062	0.0014	0.0011	0.0018	0.0009	0	0.0012	0	0.0069	0.0043	0.0019	0.02	0.49613	D	0.015	0.70582	D	0.036	0.90584	B	0.009	0.97372	B	0.000003	0.62929	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.16	0.60610	T	-3.94	0.79743	D	0.711	0.71765	-0.0676	0.80832	T	0.374	0.73242	T	10	0.010034293	0.00225	T	.	.	.	0.370	0.68930	.	.	0.646674526982	0.64375	0.473353654239015	0.47254	0.0374402184528	0.03967	0.527586698532	0.42694	T	0.191139	0.54588	T	-0.0451608	0.45178	T	0.169318	0.81369	D	0.041765206130299	0.04011	T	0.846715	0.55187	T	0.29202786	0.52181	0.20193098	0.44197	0.29202786	0.52180	0.20193098	0.44196	-7.445	0.57933	T	.	.	0.168	0.36947	B	.;.;.;.;.	.;.;.;.;.	4.131474	0.61826	24.4	0.99830634558388909	0.91198	0.96740	0.70685	D	AEFGBI	0.738303	0.68322	D	0.463519525745586	0.64974	4.764554	0.477470166128155	0.66499	4.960144	0.999999999996464	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.799000	0.47586	4.584000	0.43931	0.596000	0.33519	0.988000	0.36536	1.000000	0.68203	0.926000	0.46234	0.0:1.0:0.0:0.0	18.537	0.90966	968	0.07033	.;.;.;.;.	.	.	.	.	.	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	0.04762	2800.11	41	chr4	183284277	.	C	T	2800.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.60;DP=887;ExcessHet=0.1072;FS=3.018;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=0.170;SOR=0.926	GT:AD:DP:GQ:PL	0/1:47,60:107:99:1534,0,1149	19	0	2	0
chr4	189953067	189953067	G	-	splicing	FRG1	NM_004477:exon4:c.260-1G>-	.	.	.	.	163	1297	62	0	0	62	0.0233434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1265231392	9.088e-05	0.0008	7.134e-05	0.0001	0.0010	7.78e-05	7.313e-05	0.0007	0.0006	0.0010	0.0007	0.0001	0.0002	0	0.0005	9.121e-06	5.156e-05	0.0006	0.0002	0.0035	0.0002	0.0003	0.0009	0.0002	0.0002	0.0006	0.0005	0.0009	0	6.595e-05	0	0	0	0	2.945e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	777.73	8	chr4	189953066	.	AG	A	777.73	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.00;DP=498;ExcessHet=0.3300;FS=2.572;InbreedingCoeff=-0.0692;MLEAC=2;MLEAF=0.048;MQ=52.25;MQRankSum=-3.324e+00;QD=5.33;ReadPosRankSum=1.01;SOR=0.911	GT:AD:DP:GQ:PL	0/1:11,1:12:4:4,0,408	18	0	3	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G,	.	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.047	B	0.081	B	0.000	D	1.000	D	0.485	N	2.6	T	-1.080	T	0.058	T	0.714	-0.181	3.117	4.19	1.677	5.001	11.575	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2047.95	100	chr4	189957425	.	A	G	2047.95	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.170e-01;DP=2475;ExcessHet=4.7172;FS=2.456;InbreedingCoeff=-0.2675;MLEAC=9;MLEAF=0.214;MQ=47.50;MQRankSum=-1.662e+00;QD=1.66;ReadPosRankSum=-7.240e-01;SOR=0.943	GT:AD:DP:GQ:PL	0/1:78,30:108:99:510,0,2114	12	0	9	0
chr5	173948	173948	G	A	exonic	PLEKHG4B	.	nonsynonymous SNV	PLEKHG4B:NM_052909:exon18:c.G4252A:p.G1418R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.993	D	.	.	0.988	D	1.715	L	1.47	T	-1.033	T	0.130	T	0.377	2.519	14.38	2.5	0.407	6.239	8.330	0.253	0.00852496346074	7.7e-05	.	3.491e-05	0.0002	9.065e-05	0	0	1.576e-05	0	0	2.59e-05	4	154602	rs373173703	3.626e-05	3.625e-05	4.084e-05	3.163e-05	0.0003	2.828e-05	2.565e-05	0.0001	0.0001	0.0003	0.0001	0	0	0	0.0003	2.338e-05	8.28e-05	6.96e-05	9.879e-05	9.853e-05	7.722e-05	0.0001	0.0005	6.02e-05	4.891e-05	0.0002	0.0002	0.0002	0	0.0005	0	0	0	0	1.471e-05	0	0	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.993	0.81110	D	.	.	.	.	0.988364	0.40750	D	2.015	0.55033	M	1.47	0.31987	T	-7.73	0.95732	D	0.495	0.52829	-1.0331	0.19459	T	0.130	0.44048	T	9	0.4651409	0.59524	T	0.008525	0.22532	T	0.253	0.56294	0.459	0.52590	0.520535218364	0.51697	0.5762730777405467	0.57556	0.493399900735	0.47940	0.77119654417	0.77604	T	0.280686	0.65340	T	-0.267427	0.12046	T	-0.325725	0.41945	T	0.441020485031084	0.30467	T	0.880812	0.61581	D	0.45656085	0.64456	0.43590772	0.67061	0.45656085	0.64457	0.43590772	0.67061	-8.089	0.61676	D	.	.	0.645	0.79505	P	.;.	.;.	4.507818	0.70568	25.5	0.99837032096498435	0.91800	0.88946	0.49127	D	AEFDGBI	0.751257	0.69212	D	0.150275452480005	0.48826	3.090051	-0.0177800273562211	0.38912	2.29939	0.999987664222092	0.51787	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.562822	0.20929	0	.	.	3.38	2.5	0.29355	6.352000	0.72973	3.209000	0.36791	0.505000	0.23025	1.000000	0.71638	0.999000	0.35428	0.357000	0.25818	0.124:0.0:0.876:0.0	8.330	0.31343	900	0.24599	Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1591.98	38	chr5	173948	.	G	A	1591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.61;DP=829;ExcessHet=0.0000;FS=0.674;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=1.23;SOR=0.579	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1606,0,1673	20	0	1	0
chr5	434169	434169	C	T	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1429T:p.H477Y	.	.	423	1086	13	0	0	13	0.00594966	.	.	721468	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.962	D	0.573	P	0.041	N	1.000	N	0.805	L	2.22	T	-0.957	T	0.069	T	0.169	2.167	13.20	1.2	0.479	0.459	3.633	0.073	.	0.0048	0.00359425	0.0056	0.0011	0.0009	0	0.0055	0.0069	0.0074	0.0109	0.0053492	827	154602	rs147880563	0.0062	0.0062	0.0059	0.0064	0.0095	0.0061	0.0060	0.0089	0.0087	0.0009	0.0012	0.0020	0	0.0058	0.0039	0.0067	0.0050	0.0095	0.0045	0.0045	0.0044	0.0046	0.0108	0.0042	0.0041	0.0084	0.0076	0.0010	0	0.0011	0.0020	0	0.0042	0.0034	0.0076	0.0028	0.0108	0.085	0.34982	T	1.0	0.92824	T	0.936	0.55554	P	0.369	0.49966	B	0.040595	0.01880	N	2.218850	1	0.08975	N	1.32	0.33002	L	2.22	0.47815	T	-1.27	0.56301	N	0.267	0.30233	-0.9571	0.39717	T	0.069	0.28280	T	10	0.004255086	0.00085	T	.	.	.	0.073	0.21317	.	.	0.5578725173	0.55448	0.10124153312045334	0.10055	0.256332669702	0.28213	0.307414442301	0.11517	T	0.090414	0.38581	T	-0.545108	0.00312	T	-0.54868	0.17453	T	0.00415152301803067	0.00044	T	0.459554	0.19889	T	0.045080632	0.07319	0.04458364	0.05809	0.045080632	0.07318	0.04458364	0.05809	-4.13	0.25730	T	.	.	0.076	0.22753	B	.;.;.;.;.	.;.;.;.;.	0.049266	0.04632	1.294	0.99219875278581615	0.55870	0.10502	0.15991	N	AEFDGBCI	0.048226	0.08206	N	-0.84675744340036	0.12129	0.5893974	-0.927115032470097	0.11455	0.583682	0.999992285977103	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.69	1.2	0.20181	0.424000	0.21049	0.581000	0.19707	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1982:0.5557:0.146:0.1001	3.633	0.07680	851	0.35303	.;.;.;.;.	.	.	.	.	.	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	0.02381	1560.98	51	chr5	434169	.	C	T	1560.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.189e+00;DP=1075;ExcessHet=0.0000;FS=9.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=-1.063e+00;SOR=1.497	GT:AD:DP:GQ:PL	0/1:54,58:112:99:1575,0,1434	20	0	1	0
chr5	1073770	1073770	C	T	exonic	SLC12A7	.	nonsynonymous SNV	SLC12A7:NM_006598:exon17:c.G2104A:p.A702T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.019	B	0.001	B	0.092	N	1.000	N	0.95	L	-1.86	D	-1.018	T	0.054	T	0.048	0.764	8.043	0.125	0.230	-0.736	2.160	0.014	0.0105773570123	.	.	7.717e-05	0.0001	0	0	0	1.579e-05	0	0.0004	5.82e-05	9	154602	rs748476541	3.614e-05	4.72e-05	1.639e-05	5.631e-05	0.0005	2.799e-05	2.475e-05	0.0004	0.0004	0	0	0	2.999e-05	0	0.0004	7.668e-06	1.869e-05	0.0005	4.598e-05	4.596e-05	3.853e-05	5.379e-05	0.0006	2.109e-05	1.526e-05	0.0002	8.981e-05	7.235e-05	0	0	0	0	0	0	1.47e-05	0	0.0006	0.258	0.16683	T	0.626	0.07292	T	0.019	0.17989	B	0.001	0.04355	B	0.092393	0.20277	N	0.508719	1	0.08975	N	1.04	0.26193	L	-1.86	0.84341	D	-0.51	0.15986	N	0.145	0.14622	-1.0175	0.24528	T	0.054	0.22997	T	10	0.026814789	0.00840	T	0.010577	0.27281	T	0.057	0.16321	0.313	0.28774	0.674760430698	0.67200	0.17233955250693006	0.17153	0.299493112566	0.32315	0.580085635185	0.50099	T	0.149405	0.48840	T	-0.458034	0.01011	T	-0.56156	0.16230	T	0.0186764984963503	0.00580	T	0.373163	0.08852	T	0.04965257	0.08849	0.030092806	0.01422	0.04965257	0.08849	0.030092806	0.01422	-3.783	0.20551	T	.	.	0.067	0.02399	B	.	.	0.465283	0.08349	5.100	0.97108027307929357	0.32396	0.03968	0.09377	N	AEFDGBI	0.052119	0.09273	N	-0.819636850065578	0.12809	0.6267858	-0.935505210025329	0.11260	0.5725556	0.00279500412814813	0.09712	0.839682	0.99964	0	0.633656	0.55848	0	0.736553	0.94036	0	0.635551	0.53088	0	.	.	4.04	0.125	0.14020	-1.064000	0.03572	-6.372000	0.01417	-0.985000	0.01878	0.000000	0.06391	0.000000	0.08366	0.075000	0.16954	0.4595:0.2971:0.133:0.1104	2.160	0.03590	976	0.04745	.	.	.	.	.	.	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	1	0	0	0	0.02381	1239.98	33	chr5	1073770	.	C	T	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=868;ExcessHet=0.0000;FS=1.719;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=-1.161e+00;SOR=0.470	GT:AD:DP:GQ:PL	0/1:47,47:94:99:1254,0,1058	20	0	1	0
chr5	10450015	10450015	C	A	exonic	ROPN1L	.	nonsynonymous SNV	ROPN1L:NM_031916:exon3:c.C319A:p.P107T	.	.	424	1096	2	0	0	2	0.000911577	.	.	2470013	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	0.000	D	1.000	D	2.52	M	2.04	T	-0.846	T	0.156	T	0.818	2.891	15.63	5.07	2.509	6.294	15.735	0.415	0.0174519625133	.	.	8.237e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs754500671	1.095e-05	1.094e-05	1.225e-05	9.628e-06	0.0005	6.48e-06	5.25e-06	0.0001	7.544e-05	0	0	0	0	0	0.0005	5.397e-06	6.624e-05	3.479e-05	6.574e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.004	0.65419	D	0.009	0.66756	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	D	0.055461	1	0.81001	D	3.305	0.90531	M	2.04	0.20808	T	-5.0	0.82341	D	0.849	0.84505	-0.8458	0.52256	T	0.156	0.48704	T	10	0.8679031	0.86043	D	0.017452	0.39153	T	0.415	0.72555	0.621	0.75576	0.450152462452	0.44640	0.5169805806104991	0.51621	0.776489147222	0.65059	0.531082510948	0.43187	T	0.173545	0.52245	T	0.0484929	0.58149	T	-0.0674897	0.65805	T	0.956490159034729	0.64768	D	0.753225	0.37546	T	0.49103764	0.66565	0.35589966	0.61109	0.49103764	0.66566	0.35589966	0.61109	-6.222	0.48101	T	.	.	0.546	0.66635	A	.;.	.;.	4.137197	0.61958	24.4	0.99717049602679519	0.81773	0.97779	0.77072	D	AEFDIJ	0.657795	0.62930	D	0.66209094006564	0.77153	6.620265	0.56875668404686	0.72711	5.853277	0.999999999999057	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.514364	0.09456	0	0.567892	0.33627	0	.	.	5.07	5.07	0.68106	6.927000	0.75657	7.561000	0.60481	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.502000	0.29062	0.0:1.0:0.0:0.0	15.735	0.77599	711	0.56613	.;.	.	.	.	.	.	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	0.02381	778.98	34	chr5	10450015	.	C	A	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.840e-01;DP=758;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-2.240e-01;SOR=0.622	GT:AD:DP:GQ:PL	0/1:30,31:61:99:793,0,806	20	0	1	0
chr5	24537491	24537491	G	C	exonic	CDH10	.	nonsynonymous SNV	CDH10:NM_001317224:exon3:c.C415G:p.P139A	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.113	B	0.089	B	0.000	D	0.994	D	0.685	N	0.51	T	-0.988	T	0.132	T	0.337	2.779	15.25	5.82	2.758	6.166	19.080	0.171	0.0126616123945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27783	T	0.322	0.19016	T	0.113	0.26349	B	0.089	0.29769	B	0.000007	0.62929	D	0.107767	0.994282	0.42226	D	1.345	0.33447	L	0.51	0.55439	T	-5.6	0.86608	D	0.237	0.26717	-0.9879	0.33126	T	0.132	0.44406	T	10	0.24970314	0.42286	T	0.012662	0.31427	T	0.171	0.43483	0.467	0.53891	0.657421573829	0.65455	0.3352004469086272	0.33433	1.21055628116	0.80829	0.684688329697	0.64942	T	0.216898	0.57919	T	-0.0909905	0.37913	T	-0.368478	0.37066	T	0.971937298774719	0.69505	D	0.874613	0.58533	D	0.29825673	0.52748	0.3812111	0.63135	0.29825673	0.52747	0.3812111	0.63135	-5.656	0.43300	T	.	.	0.125	0.26388	B	.	.	4.147594	0.62187	24.4	0.98174099968490525	0.38882	0.94283	0.60675	D	AEFI	0.655665	0.62792	D	0.111964081183095	0.47020	2.933682	0.321063892368563	0.56778	3.84183	0.999921944581713	0.46280	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.82	5.82	0.92740	5.305000	0.65541	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.080	0.93160	783	0.47268	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1263.98	33	chr5	24537491	.	G	C	1263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.995;DP=823;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=-1.361e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1278,0,1687	20	0	1	0
chr5	36976312	36976312	G	C	exonic	NIPBL	.	nonsynonymous SNV	NIPBL:NM_015384:exon9:c.G1405C:p.V469L	Cornelia de Lange syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.073	B	0.025	B	0.000	D	1.000	D	0.695	N	-3.35	D	0.043	D	0.661	D	0.555	3.882	19.73	5.58	2.641	9.439	19.567	0.343	0.0406808251233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	6.568e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.011	0.55530	D	0.283	0.36365	T	0.043	0.24078	B	0.011	0.20508	B	0.000063	0.52346	D	0.128294	0.999708	0.48408	D	1.61	0.41143	L	-3.35	0.94022	D	-0.52	0.16187	N	0.585	0.60579	0.043	0.83110	D	0.661	0.88235	D	10	0.32050586	0.49425	T	0.040681	0.59509	D	0.343	0.66488	0.25	0.18757	0.879801803537	0.87862	0.410959878834727	0.41011	0.237173385282	0.26261	0.753291904926	0.74932	T	0.18814	0.54196	T	0.196373	0.73552	D	0.0442995	0.73208	D	0.69907339231432	0.40675	D	0.947805	0.79866	D	0.13591537	0.31528	0.17231335	0.39477	0.13591537	0.31527	0.17231335	0.39476	-4.229	0.27169	T	.	.	0.624	0.70897	P	.;.	.;.	4.008901	0.59128	24.1	0.99731517772583023	0.82833	0.99456	0.96256	D	AEFBI	0.873692	0.79619	D	0.100524658377244	0.46485	2.888287	0.32136463555838	0.56798	3.843655	0.999999999999868	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.567000	0.97303	11.883000	0.98886	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.567	0.95391	130	0.94779	.;.	.	.	.	.	.	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	0.3333	663.75	81	chr5	36976312	.	G	C	663.75	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.011e+00;DP=2556;ExcessHet=3.5521;FS=235.068;InbreedingCoeff=-0.4165;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=0.62;ReadPosRankSum=0.981;SOR=11.906	GT:AD:DP:GQ:PL	0/1:88,29:120:99:126,0,1470	4	0	8	9
chr5	37125321	37125321	T	C	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_023073:exon46:c.A8719G:p.R2907G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	0.971	D	2.395	M	0.23	T	-0.257	T	0.368	T	0.91	4.512	24.3	4.9	1.096	2.431	10.181	0.474	0.0834906531228	.	.	8.237e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs756716882	1.163e-05	1.163e-05	9.529e-06	1.375e-05	0.0002	7.09e-06	5.79e-06	7.998e-05	6.236e-05	2.988e-05	0	0	0	0	0.0002	8.993e-07	3.312e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	0.970623	0.38812	D	.	.	.	0.23	0.59717	T	-4.19	0.76900	D	0.805	0.83678	-0.2567	0.76177	T	0.368	0.72818	T	10	0.6389713	0.68946	D	0.083491	0.74126	D	0.474	0.76685	.	.	0.700665027766	0.69807	0.3080678734628117	0.30719	0.646601930215	0.58067	.	.	.	0.245975	0.61537	T	0.12146	0.66518	D	0.173361	0.81608	D	0.95480865240097	0.64353	D	0.812919	0.46506	T	0.6454134	0.75119	0.47922027	0.69835	0.6454134	0.75120	0.47922027	0.69836	-7.173	0.55288	T	0.8597731284399424	0.92356	0.637	0.70410	P	.;.;.	.;.;.	4.086436	0.60831	24.3	0.99817722653068097	0.90061	0.76644	0.37606	D	AEFBI	0.296553	0.40637	N	0.575694659893251	0.71658	5.684699	0.530840927984652	0.70075	5.452253	0.999853877691833	0.44174	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	6.07	4.9	0.63643	2.435000	0.44469	2.463000	0.32863	0.665000	0.62972	1.000000	0.71638	0.998000	0.33993	0.918000	0.45347	0.0:0.0:0.1745:0.8255	10.181	0.42144	144	0.94257	.;.;.	.	.	.	.	.	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	0.02381	2025.98	33	chr5	37125321	.	T	C	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.040e-01;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.349;SOR=0.643	GT:AD:DP:GQ:PL	0/1:68,81:149:99:2040,0,1688	20	0	1	0
chr5	55947563	55947563	C	T	exonic	IL6ST	.	nonsynonymous SNV	IL6ST:NM_001364279:exon13:c.G871A:p.V291M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.898	P	0.000	D	1.000	D	1.155	L	1.26	T	-0.826	T	0.190	T	0.629	4.660	25.7	5.79	2.753	5.593	19.645	0.201	0.0367877266479	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1445942110	5.148e-06	2.27e-05	1.718e-06	8.569e-06	0.0003	1.85e-06	1.22e-06	1.07e-06	7.2e-07	0	0	0	0	0	0.0003	4.562e-06	0	1.421e-05	8.089e-06	7.61e-06	1.51e-05	0	3.195e-05	0	0	.	.	3.195e-05	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.898	0.63708	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.71	0.79292	M	1.26	0.41392	T	-1.32	0.34397	N	0.764	0.76203	-0.8259	0.53563	T	0.190	0.54168	T	10	0.4949175	0.61210	T	0.036788	0.57211	D	0.201	0.48592	.	.	0.575146471916	0.57183	0.7311210203190788	0.73057	0.50769199222	0.48953	0.827136278152	0.86124	D	0.319469	0.69075	T	0.0191192	0.54262	T	-0.210313	0.53666	T	0.85374734773836	0.50492	D	0.933007	0.75196	D	0.20199113	0.42228	0.2905947	0.55083	0.20199113	0.42228	0.2905947	0.55082	-8.474	0.64257	D	.	.	0.943	0.86235	P	.;.;.;.	.;.;.;.	5.057756	0.84280	28.3	0.99908896502256417	0.97875	0.94462	0.61243	D	AEFBCI	0.729802	0.67740	D	0.648518936315824	0.76272	6.456106	0.686267684419075	0.81334	7.50276	0.999999981098042	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.741806	0.99463	0	.	.	5.79	5.79	0.91751	5.726000	0.68163	7.499000	0.59464	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.645	0.95766	822	0.40702	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	718.98	34	chr5	55947563	.	C	T	718.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.280;DP=896;ExcessHet=0.0000;FS=1.047;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.339;SOR=0.906	GT:AD:DP:GQ:PL	0/1:25,28:53:99:733,0,640	20	0	1	0
chr5	56771557	56771557	G	T	exonic	LOC105378979	.	nonsynonymous SNV	LOC105378979:NM_001365184:exon2:c.C224A:p.T75N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00259585	.	.	.	.	.	.	.	.	0.0018826	49	26028	rs531984361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0119	0.0109	7.214e-05	0	0.0006	0.0006	0	0	0	0.0008	0.0009	0.0147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	39.55	1	chr5	56771557	.	G	T	39.55	.	AC=2;AF=0.100;AN=20;DP=49;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2534;MLEAC=2;MLEAF=0.100;MQ=60.00;QD=19.77;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	9	1	0	11
chr5	60754754	60754754	G	A	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon8:c.C716T:p.A239V	.	.	435	1080	7	0	0	7	0.00323027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.598	N	1.000	N	0.34	N	2.03	T	-1.000	T	0.025	T	0.068	-0.272	2.696	-0.637	0.100	4.888	7.478	0.111	.	.	0.00279553	0.0022	0	0.0003	0.0001	0	1.499e-05	0.0011	0.0161	0.0019275	298	154602	rs114998585	0.0010	0.0010	0.0006	0.0015	0.0165	0.0010	0.0010	0.0158	0.0155	2.987e-05	8.944e-05	0	0	0	0.0007	1.979e-05	0.0012	0.0165	0.0005	0.0005	0.0003	0.0007	0.0147	0.0004	0.0004	0.0119	0.0109	0	0	6.542e-05	0	0	0	0	2.941e-05	0	0.0147	0.713	0.04008	T	0.612	0.07642	T	0.001	0.09854	B	0.003	0.10090	B	0.597730	0.05628	N	1.221100	0.999578	0.20950	N	-0.11	0.04642	N	2.03	0.20959	T	2.03	0.00392	N	0.028	0.00618	-1.0005	0.29774	T	0.025	0.10598	T	10	0.003026247	0.00050	T	.	.	.	0.111	0.31313	.	.	0.0482279557977	0.04254	0.17150888370810333	0.17070	0.161705904285	0.18250	0.272379875183	0.06453	T	0.009644	0.08771	T	-0.643436	0.00079	T	-0.684054	0.06739	T	0.0103003973151032	0.00140	T	0.712729	0.32446	T	0.09406212	0.22106	0.052071497	0.08507	0.09406212	0.22106	0.052071497	0.08507	-1.894	0.02805	T	.	.	0.173	0.39322	B	.;.;.	.;.;.	1.276549	0.16756	12.75	0.28716384890801233	0.01488	0.33976	0.24958	N	AEFI	0.055051	0.10063	N	-1.02884403872823	0.08008	0.3740372	-0.921659100159656	0.11584	0.5910053	1.85047223870922E-5	0.02871	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.89	-0.637	0.10926	4.871000	0.62737	4.333000	0.43033	-0.102000	0.15922	0.999000	0.42656	0.997000	0.33255	0.608000	0.31589	0.6093:0.0:0.0631:0.3276	7.478	0.26554	0	0.99858	.;.;.	.	.	.	.	.	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	0.02381	1444.98	34	chr5	60754754	.	G	A	1444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.907;DP=798;ExcessHet=0.0000;FS=1.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=2.42;SOR=0.930	GT:AD:DP:GQ:PL	0/1:46,59:105:99:1459,0,994	20	0	1	0
chr5	61332332	61332332	-	GGC	exonic	ZSWIM6	.	nonframeshift insertion	ZSWIM6:NM_020928:exon1:c.60_61insGGC:p.G26_S27insG,	Acromelic frontonasal dysostosis, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	6329.05	24	chr5	61332326	.	GGGCGGC	GGGCGGCGGC,G	6329.05	.	AC=9,3;AF=0.214,0.071;AN=42;BaseQRankSum=1.13;DP=807;ExcessHet=0.7800;FS=1.515;InbreedingCoeff=0.0667;MLEAC=9,3;MLEAF=0.214,0.071;MQ=60.00;MQRankSum=0.00;QD=21.31;ReadPosRankSum=-9.200e-02;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,16,0:25:99:.:.:636,0,331,664,379,1043	11	1	6	0
chr5	64690726	64690726	T	C	exonic	SHISAL2B	.	nonsynonymous SNV	SHISAL2B:NM_001164442:exon1:c.T103C:p.Y35H,	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.006	N	0.995	D	1.59	L	0.47	T	-0.652	T	0.219	T	0.701	4.460	23.8	4.95	2.079	6.922	12.603	0.376	0.197867733723	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1457929770	7.942e-06	8.209e-06	7.129e-06	8.776e-06	0.0004	4.26e-06	3.12e-06	6.159e-05	2.546e-05	3.175e-05	0	0	0	0	0.0004	7.41e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.006028	0.32324	N	0.297110	0.994863	0.42448	D	.	.	.	0.47	0.56114	T	-4.21	0.75776	D	0.608	0.62526	-0.6522	0.62618	T	0.219	0.58150	T	8	0.587695	0.66204	D	0.197868	0.86562	D	0.376	0.69443	0.55	0.66576	0.130388298395	0.12655	0.6001098019661898	0.59941	0.526464977675	0.50275	0.780022144318	0.78931	T	0.101827	0.40896	T	0.105847	0.64917	D	-0.0702485	0.65609	T	0.994756817817688	0.86243	D	0.756624	0.37993	T	0.66175365	0.75993	0.713626	0.83101	0.66175365	0.75994	0.713626	0.83102	-8.769	0.66198	D	.	.	0.597	0.68751	P	.	.	4.743043	0.76508	26.5	0.99828873815299113	0.91112	0.95521	0.65052	D	AEFDBHCI	0.811073	0.73415	D	0.351446182389343	0.58816	4.056243	0.396392504634252	0.61342	4.332972	0.999999999999318	0.74766	0.437478	0.07067	0	0.563428	0.19063	0	0.504199	0.09095	0	0.603991	0.37454	0	.	.	4.95	4.95	0.64894	5.331000	0.65681	7.598000	0.61467	0.576000	0.29215	1.000000	0.71638	1.000000	0.68203	0.842000	0.39752	0.0:0.0:0.0:1.0	12.603	0.55862	613	0.66686	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1067.98	36	chr5	64690726	.	T	C	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=755;ExcessHet=0.0000;FS=1.018;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.51;ReadPosRankSum=-4.480e-01;SOR=0.718	GT:AD:DP:GQ:PL	0/1:21,40:61:99:1082,0,473	20	0	1	0
chr5	75146001	75146001	A	G	exonic	ANKRD31	.	nonsynonymous SNV	ANKRD31:NM_001164443:exon14:c.T3410C:p.I1137T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	.	.	.	.	.	.	1.000	N	1.61	L	0.06	T	-0.973	T	0.133	T	0.568	0.412	6.238	-2.42	-0.580	-0.566	0.344	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2381	835.18	74	chr5	75146001	.	A	G	835.18	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-2.826e+00;DP=1745;ExcessHet=6.1002;FS=93.999;InbreedingCoeff=-0.2987;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.04;SOR=11.037	GT:AD:DP:GQ:PL	0/1:55,9:64:22:22,0,1187	11	0	10	0
chr5	80472791	80472791	C	T	exonic	ZFYVE16	.	nonsynonymous SNV	ZFYVE16:NM_014733:exon15:c.C4055T:p.T1352I	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.998	D	0.991	D	0.000	D	1.000	D	2.215	M	1.06	T	-0.715	T	0.239	T	0.746	4.307	22.6	5.75	2.713	4.222	12.840	0.149	0.0164185717769	0.0012	0.000199681	0.0010	9.701e-05	0.0003	0	0.0002	0.0012	0	0.0020	0.0009185	142	154602	rs139589180	0.0013	0.0013	0.0013	0.0013	0.0024	0.0013	0.0012	0.0016	0.0016	0.0002	0.0004	0.0003	2.521e-05	0.0002	0.0024	0.0015	0.0010	0.0019	0.0009	0.0009	0.0010	0.0009	0.0021	0.0008	0.0008	0.0014	0.0013	0.0002	0	0.0004	0.0006	0	9.448e-05	0	0.0017	0	0.0021	0.003	0.68238	D	0.009	0.66756	D	0.998	0.73220	D	0.991	0.79672	D	0.000016	0.62929	D	0.000000	0.999941	0.51968	D	2.36	0.67893	M	1.06	0.39781	T	-4.62	0.79143	D	0.652	0.66529	-0.7153	0.59693	T	0.239	0.60619	T	10	0.07799056	0.12376	T	0.016419	0.37668	T	0.149	0.39377	.	.	0.6731056941	0.67033	0.2601374024243025	0.25927	0.315198871704	0.33804	0.69129383564	0.65893	T	0.075883	0.35284	T	-0.234153	0.16103	T	-0.116385	0.62097	T	0.0685115169144581	0.08441	T	0.807119	0.45664	T	0.428355	0.62644	0.4644429	0.68915	0.46893632	0.65225	0.50877655	0.71612	-7.258	0.55896	T	0.5217319899014011	0.59390	0.311	0.53808	B	.;.;.	.;.;.	3.760746	0.53956	23.4	0.99915452630140833	0.98379	0.93872	0.59435	D	AEFGBI	0.523630	0.54715	D	0.738458331483141	0.82151	7.692473	0.731371629875474	0.84758	8.382818	0.984980212785301	0.30807	0.732398	0.92422	0	0.708844	0.79440	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.75	5.75	0.90390	3.321000	0.51710	5.877000	0.50600	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.9249:0.0:0.0751	12.840	0.57179	894	0.26265	Domain of unknown function DUF3480;Domain of unknown function DUF3480;Domain of unknown function DUF3480	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1175.98	36	chr5	80472791	.	C	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=815;ExcessHet=0.0000;FS=1.496;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.32;ReadPosRankSum=1.04;SOR=0.864	GT:AD:DP:GQ:PL	0/1:63,51:114:99:1190,0,1442	20	0	1	0
chr5	80654889	80654898	TGCAGCGGCC	0	exonic	MSH3	.	.	.	Endometrial carcinoma, somatic;Familial adenomatous polyposis 4, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2303.18	64	chr5	80654889	.	TGCAGCGGCC	T,*,CGCAGCGGCC	2303.18	.	AC=1,15,1;AF=0.024,0.357,0.024;AN=42;BaseQRankSum=0.767;DP=1593;ExcessHet=2.4516;FS=3.537;InbreedingCoeff=-0.0871;MLEAC=1,15,1;MLEAF=0.024,0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.503;SOR=0.970	GT:AD:DP:GQ:PL	0/2:20,0,48,0:68:99:1822,1882,2660,0,778,631,1882,2660,778,2660	7	0	1	0
chr5	96785792	96785792	C	T	exonic	ERAP1	.	nonsynonymous SNV	ERAP1:NM_001040458:exon13:c.G1939A:p.V647I	.	.	427	1045	47	3	0	53	0.0247317	.	.	2827895	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.994	D	0.973	D	0.000	D	1.000	D	2.62	M	3.32	T	-1.138	T	0.076	T	0.369	4.315	22.6	5.77	2.724	7.372	19.593	0.276	.	0.0018	0.00159744	0.0034	0.0007	0.0029	0	0.0002	0.0020	0.0078	0.0137	0.0030724	475	154602	rs111363347	0.0026	0.0026	0.0022	0.0030	0.0243	0.0026	0.0025	0.0210	0.0198	0.0004	0.0020	0.0022	7.558e-05	0.0001	0.0243	0.0018	0.0033	0.0149	0.0016	0.0016	0.0016	0.0017	0.0101	0.0015	0.0014	0.0079	0.0071	0.0002	0	0.0027	0.0014	0.0002	0	0.0204	0.0018	0.0057	0.0101	0.034	0.44029	D	0.028	0.54934	D	0.993	0.66517	D	0.955	0.72923	D	0.000200	0.48115	D	0.179513	0.999999	0.58761	D	2.885	0.83555	M	3.32	0.06214	T	-0.75	0.21003	N	0.322	0.36359	-1.1379	0.01439	T	0.076	0.30429	T	10	0.0092540085	0.00209	T	.	.	.	0.276	0.59253	.	.	0.416956310301	0.41315	0.6255793439771128	0.62490	0.348272605842	0.36702	0.387608021498	0.23332	T	0.061309	0.31620	T	-0.423924	0.01615	T	-0.370037	0.36884	T	0.0450658334183876	0.04613	T	0.975602	0.91418	D	0.5307451	0.68873	0.57157373	0.75189	0.5307451	0.68874	0.57157373	0.75190	-8.234	0.62654	D	.	.	0.173	0.40376	B	.;.	.;.	4.297696	0.65597	24.9	0.99856502613431009	0.93548	0.95510	0.65007	D	AEFGBCI	0.785201	0.71565	D	0.744243113532959	0.82529	7.785265	0.682845202672003	0.81076	7.443103	0.999999999999986	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.77	5.77	0.91077	7.537000	0.80946	7.718000	0.67175	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.512000	0.29290	0.0:1.0:0.0:0.0	19.593	0.95520	893	0.26510	.;ERAP1-like 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	0.04762	4044.11	34	chr5	96785792	.	C	T	4044.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.982;DP=1071;ExcessHet=0.1072;FS=1.458;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=-2.070e-01;SOR=0.601	GT:AD:DP:GQ:PL	0/1:56,73:129:99:1978,0,1453	19	0	2	0
chr5	112275362	112275362	G	A	exonic	EPB41L4A	.	nonsynonymous SNV	EPB41L4A:NM_001347887:exon4:c.C299T:p.A100V	.	.	695	820	5	2	0	9	0.00545785	.	.	2827931	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	0.000	D	0.988	D	0.81	L	-0.83	T	-0.310	T	0.364	T	0.725	4.961	28.9	5.56	2.771	4.531	18.656	0.478	0.0250864742028	0.0011	0.00139776	0.0022	0.0010	0.0015	0	0.0009	0.0037	0	0.0008	0.0014683	227	154602	rs144670970	0.0019	0.0022	0.0019	0.0019	0.0079	0.0018	0.0018	0.0060	0.0054	0.0002	0.0009	0.0002	0	0.0010	0.0079	0.0022	0.0016	0.0010	0.0021	0.0021	0.0023	0.0018	0.0031	0.0019	0.0018	0.0028	0.0026	0.0003	0.0362	0.0018	0.0003	0	0.0023	0.0068	0.0031	0.0009	0.0008	0.074	0.34621	T	0.056	0.46632	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.987813	0.40654	D	0.61	0.15665	N	-0.83	0.74159	T	-3.57	0.68999	D	0.338	0.38232	-0.3101	0.74702	T	0.364	0.72514	T	10	0.011416376	0.00250	T	0.025086	0.48071	D	0.478	0.76946	.	.	0.900031895272	0.89904	0.45657247820754454	0.45575	0.282234242663	0.30686	0.660553097725	0.61489	T	0.081206	0.36543	T	-0.191707	0.22007	T	-0.0471971	0.67214	D	0.0175599052220569	0.00490	T	0.940406	0.77539	D	0.50716364	0.67514	0.392993	0.64030	0.49522018	0.66814	0.4178281	0.65825	-6.386	0.49400	T	0.21446904140416545	0.28817	0.195	0.42215	B	.;.	.;.	4.690037	0.75145	26.3	0.99903945620762657	0.97502	0.91591	0.53849	D	AEFI	0.603322	0.59485	D	0.589885640484288	0.72544	5.822284	0.630072959443419	0.77132	6.621235	0.999995296497811	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.56	5.56	0.83678	5.035000	0.63949	9.947000	0.82700	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.656	0.91411	589	0.68969	FERM conserved site|FERM domain|Band 4.1 domain;FERM conserved site|FERM domain|Band 4.1 domain	.	.	.	.	.	Uncertain significance	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	0.02381	360.98	33	chr5	112275362	.	G	A	360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.290e-01;DP=709;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-2.550e-01;SOR=0.631	GT:AD:DP:GQ:PL	0/1:12,16:28:99:375,0,282	20	0	1	0
chr5	113433771	113433771	G	A	exonic	TSSK1B	.	nonsynonymous SNV	TSSK1B:NM_032028:exon1:c.C1069T:p.P357S,	.	.	.	.	.	.	.	.	.	.	.	2462803	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.68	T	0.022	B	0.001	B	.	.	1.000	N	0	N	-0.23	T	-1.026	T	0.092	T	0.167	-0.248	2.804	-1.1	0.308	-0.765	3.126	0.032	0.00423191860068	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772486035	7.526e-06	7.524e-06	8.169e-06	6.877e-06	9.894e-06	4.04e-06	2.95e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.894e-06	0	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.923	0.02292	T	0.931	0.02768	T	0.022	0.18677	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	-0.23	0.66652	T	-0.32	0.12283	N	0.094	0.07398	-1.0256	0.21886	T	0.092	0.35201	T	9	0.042033464	0.02914	T	0.004232	0.10216	T	0.032	0.07718	.	.	0.280987212366	0.27714	0.1211785895778112	0.12044	0.0956328157147	0.10801	0.267809540033	0.05857	T	0.039032	0.25050	T	-0.183133	0.23270	T	-0.500835	0.22262	T	0.022093815582054	0.00919	T	0.373463	0.08871	T	0.030867597	0.02824	0.056847908	0.10229	0.030867597	0.02823	0.056847908	0.10229	-3.374	0.14709	T	.	.	0.064	0.01577	B	.	.	0.314350	0.06893	3.430	0.7156871139503943	0.09673	0.00358	0.01837	N	AEFDBI	0.036793	0.04959	N	-1.36209777307949	0.03001	0.1333961	-1.43528107551217	0.02906	0.1345652	0.0244530317505186	0.13580	0.516011	0.20929	0	0.547309	0.14657	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	0.9	-1.1	0.09367	0.771000	0.26294	-0.232000	0.10668	0.526000	0.24426	0.024000	0.20007	0.000000	0.08366	0.088000	0.17685	0.0:0.0:0.5248:0.4751	3.126	0.06023	922	0.19044	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	684.98	34	chr5	113433771	.	G	A	684.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=746;ExcessHet=0.0000;FS=3.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=1.95;SOR=1.360	GT:AD:DP:GQ:PL	0/1:32,28:60:99:699,0,789	20	0	1	0
chr5	113488342	113488342	-	GCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.72_73insGGC:p.S24_S25insG,	Colorectal cancer, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0.0051	0.0015	0.0020	0	0.0005	0.0020	0.0044	0.0021345	330	154602	rs775732898	0.0008	0.0011	0.0009	0.0008	0.0099	0.0008	0.0008	0.0089	0.0085	0.0099	0.0024	0.0002	9.69e-05	0.0001	0.0026	0.0006	0.0016	0.0006	0.0034	0.0034	0.0034	0.0034	0.0095	0.0032	0.0031	0.0087	0.0084	0.0095	0	0.0045	0	0.0006	9.529e-05	0.0103	0.0006	0.0043	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55421.17	118	chr5	113488342	.	T	C,TGCTGCTGCC,TGCC	55421.17	.	AC=27,7,1;AF=0.643,0.167,0.024;AN=42;BaseQRankSum=-1.446e+00;DP=2966;ExcessHet=2.5830;FS=1.369;InbreedingCoeff=-0.2000;MLEAC=27,7,1;MLEAF=0.643,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.98;ReadPosRankSum=-1.100e-02;SOR=0.803	GT:AD:DP:GQ:PL	1/1:0,109,0,0:109:99:3098,327,0,3098,327,3098,3098,327,3098,3098	0	7	7	0
chr5	113488351	113488351	-	GCCGCTGCC	exonic	MCC	.	nonframeshift insertion	MCC:NM_001085377:exon1:c.63_64insGGCAGCGGC:p.G21_S22insGSG,	Colorectal cancer, somatic	.	0	73	103	46	4	199	0.571848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3783	.	0.0057	0	0	0.0032	0	0.0008	0	0.0260	0.0009989	26	26028	rs531679771	0.0043	0.0048	0.0037	0.0049	0.0326	0.0042	0.0042	0.0314	0.0310	0.0004	0.0013	0.0091	0.0236	0.0006	0.0039	0.0021	0.0049	0.0326	0.0037	0.0038	0.0029	0.0045	0.0508	0.0035	0.0034	0.0456	0.0436	0.0008	0	0.0018	0.0098	0.0124	0.0004	0	0.0022	0.0048	0.0508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	37732.13	76	chr5	113488351	.	T	TGCC,TGCCGCTGCC	37732.13	.	AC=22,1;AF=0.524,0.024;AN=42;BaseQRankSum=0.319;DP=2449;ExcessHet=5.5923;FS=0.563;InbreedingCoeff=-0.2494;MLEAC=22,1;MLEAF=0.524,0.024;MQ=60.00;MQRankSum=0.00;QD=25.19;ReadPosRankSum=0.315;SOR=0.655	GT:AD:DP:GQ:PL	1/1:0,70,0:70:99:2972,210,0,2973,211,2974	3	5	12	0
chr5	119133212	119133212	A	C	exonic	DMXL1	.	nonsynonymous SNV	DMXL1:NM_001290321:exon11:c.A1396C:p.S466R	.	.	427	1067	28	0	0	28	0.012951	.	.	698741	DMXL1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.45	T	0.49	P	0.157	B	0.003	N	0.840	D	1.04	L	0.84	T	-1.023	T	0.054	T	0.385	0.476	6.583	4.18	2.034	0.313	5.926	0.085	.	0.0031	0.00798722	0.0066	0.0007	0.0017	0	0.0068	0.0061	0.0088	0.0189	0.0060866	941	154602	rs142000355	0.0046	0.0046	0.0042	0.0050	0.0187	0.0045	0.0045	0.0179	0.0176	0.0009	0.0025	0.0169	5.039e-05	0.0055	0.0094	0.0034	0.0061	0.0187	0.0039	0.0039	0.0037	0.0041	0.0193	0.0037	0.0035	0.0161	0.0149	0.0006	0.0033	0.0034	0.0164	0	0.0048	0.0034	0.0045	0.0047	0.0193	0.078	0.33923	T	0.204	0.27235	T	0.019	0.36941	B	0.02	0.34536	B	0.003207	0.35270	N	0.354726	0.839989	0.35051	D	1.965	0.53209	M	0.84	0.47477	T	-2.2	0.49519	N	0.405	0.58968	-1.0226	0.22866	T	0.054	0.22997	T	10	0.0034649074	0.00061	T	.	.	.	0.085	0.24743	0.211	0.12923	0.316918214084	0.31302	0.26826068777558765	0.26739	0.0836088970448	0.09429	0.356339156628	0.18851	T	0.066931	0.33072	T	-0.442592	0.01249	T	-0.393592	0.34132	T	0.0104915088462671	0.00145	T	0.808019	0.46271	T	0.07245605	0.16118	0.08032456	0.18162	0.07245605	0.16118	0.08032456	0.18161	-6.054	0.46728	T	.	.	0.201	0.47557	B	.;.;.	.;.;.	2.234974	0.28534	17.83	0.95959325265076945	0.28295	0.43055	0.27014	N	AEFGBI	0.178236	0.30549	N	-0.44553844061359	0.23892	1.286213	-0.369960080323475	0.25897	1.42706	0.0185162500457033	0.13067	0.732398	0.92422	0	0.724815	0.89359	0	0.696353	0.63694	0	0.727631	0.95156	0	.	.	5.32	4.18	0.48473	0.514000	0.22492	2.835000	0.35045	0.691000	0.84096	0.632000	0.28016	1.000000	0.68203	0.100000	0.18284	0.7225:0.166:0.1115:0.0	5.926	0.18350	885	0.28214	.;.;.	.	.	.	.	.	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	0.04762	3372.11	33	chr5	119133212	.	A	C	3372.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.613e+00;DP=938;ExcessHet=0.1072;FS=0.434;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=0.223;SOR=0.639	GT:AD:DP:GQ:PL	0/1:89,86:175:99:2042,0,2374	19	0	2	0
chr5	122152903	122152903	A	T	exonic	ZNF474	.	nonsynonymous SNV	ZNF474:NM_207317:exon2:c.A913T:p.S305C,	.	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.997	D	0.87	P	0.013	N	0.934	N	3.015	M	0.87	T	-0.977	T	0.276	T	0.61	2.103	12.99	4.22	2.058	2.604	4.885	0.344	.	7.7e-05	0.0103834	0.0047	0.0008	8.658e-05	0.0007	0	0	0.0022	0.0334	0.0041785	646	154602	rs142966550	0.0020	0.0020	0.0012	0.0028	0.0308	0.0019	0.0019	0.0298	0.0294	0.0010	6.708e-05	0	0.0002	0	0.0009	9.892e-06	0.0023	0.0308	0.0013	0.0013	0.0008	0.0018	0.0336	0.0011	0.0011	0.0294	0.0278	0.0006	0	6.542e-05	0	0.0006	0	0	2.94e-05	0.0009	0.0336	0.021	0.49117	D	0.121	0.35840	T	0.997	0.70673	D	0.87	0.61806	P	0.013344	0.01362	N	2.218490	0.933741	0.26988	N	3.255	0.89877	M	0.87	0.46412	T	-2.48	0.54059	N	0.522	0.55193	-0.9769	0.35705	T	0.276	0.64814	T	10	0.014505655	0.00305	T	.	.	.	0.344	0.66582	.	.	0.694656268378	0.69202	0.1420967220724041	0.14132	0.0159036709343	0.01523	0.348249346018	0.17664	T	0.026621	0.19664	T	-0.378965	0.03163	T	-0.292759	0.45485	T	0.090264037330059	0.11249	T	0.762724	0.38847	T	0.11759244	0.27720	0.12100691	0.29200	0.11759244	0.27720	0.12100691	0.29199	-7.153	0.55143	T	.	.	0.092	0.13550	B	.	.	2.867690	0.37909	20.6	0.98262406842843475	0.39676	0.76465	0.37504	D	AEFBI	0.188767	0.31603	N	0.519452288897005	0.68242	5.19013	0.426851866491775	0.63244	4.554317	0.999847939970408	0.43971	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.43	4.22	0.49153	1.878000	0.39244	2.124000	0.30738	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.407000	0.26939	0.749:0.0:0.0871:0.1638	4.885	0.13056	563	0.71062	.	.	.	.	.	.	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	0.02381	1766.98	34	chr5	122152903	.	A	T	1766.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.200e+00;DP=1099;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=0.377;SOR=0.781	GT:AD:DP:GQ:PL	0/1:83,72:155:99:1781,0,2238	20	0	1	0
chr5	123393331	123393331	C	T	exonic	CEP120	.	nonsynonymous SNV	CEP120:NM_001166226:exon6:c.G701A:p.R234H	Short-rib thoracic dysplasia 13 with or without polydactyly, Autosomal recessive	.	433	1082	7	0	0	7	0.00322432	.	.	691656	CEP120-related_disorder|not_specified|Short-rib_thoracic_dysplasia_13_with_or_without_polydactyly|not_provided|Inborn_genetic_diseases	.|MedGen:CN169374|MONDO:MONDO:0014577,MedGen:C4225378,OMIM:616300,Orphanet:474|MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.818	P	0.149	B	0.004	N	1.000	D	0.83	L	2.13	T	-0.895	T	0.055	T	0.352	2.531	14.42	4.65	2.617	0.527	12.123	0.055	0.0141944589607	0.0041	0.00139776	0.0041	0.0001	0.0011	0.0001	0.0041	0.0065	0.0022	0.0006	0.0040168	621	154602	rs189429890	0.0050	0.0050	0.0051	0.0049	0.0060	0.0049	0.0049	0.0059	0.0058	0.0007	0.0009	0.0011	5.04e-05	0.0042	0.0024	0.0060	0.0040	0.0008	0.0034	0.0034	0.0035	0.0033	0.0060	0.0032	0.0031	0.0056	0.0054	0.0011	0	0.0009	0.0009	0	0.0037	0.0034	0.0060	0.0019	0.0008	0.046	0.40573	D	0.113	0.36901	T	0.818	0.45651	P	0.149	0.34106	B	0.003502	0.34847	N	0.277119	0.767352	0.34110	D	1.845	0.48678	L	2.13	0.48460	T	-2.51	0.54546	D	0.178	0.19190	-0.8954	0.48446	T	0.055	0.23375	T	10	0.0059015453	0.00132	T	0.014194	0.34139	T	0.055	0.15663	.	.	0.480801007081	0.47709	0.4345942927930696	0.43376	0.0945116682463	0.10674	0.327523320913	0.14560	T	0.299062	0.78989	T	-0.459265	0.00993	T	-0.426365	0.30348	T	0.0207609211795744	0.00776	T	0.785321	0.42297	T	0.13529576	0.31405	0.0952476	0.22581	0.121573605	0.28584	0.10807008	0.26027	-8.7	0.67310	D	0.25015925448594833	0.33860	0.086	0.17911	B	.;.;.;.	.;.;.;.	3.158478	0.42787	21.6	0.99667440302334287	0.78330	0.21320	0.21360	N	AEFGBI	0.076466	0.15383	N	-0.043943772980344	0.39875	2.35857	0.0162579708049605	0.40470	2.415677	0.999860201775038	0.44398	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.52	4.65	0.57626	0.550000	0.23052	4.049000	0.41491	-0.214000	0.08267	0.079000	0.22314	1.000000	0.68203	0.604000	0.31488	0.0:0.8644:0.0:0.1356	12.123	0.53203	902	0.24074	Domain of unknown function DUF3668;Domain of unknown function DUF3668;.;Domain of unknown function DUF3668	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1232.98	34	chr5	123393331	.	C	T	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.419;DP=766;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.81;ReadPosRankSum=0.506;SOR=0.503	GT:AD:DP:GQ:PL	0/1:33,45:78:99:1247,0,837	20	0	1	0
chr5	132864353	132864353	G	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon1:c.C181G:p.L61V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.9	P	0.343	B	0.004	N	1.000	N	2.52	M	0.19	T	-0.826	T	0.190	T	0.072	2.169	13.21	3.18	0.380	2.346	6.399	0.148	0.0193298004431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.099	0.38891	T	0.9	0.49598	P	0.343	0.42509	B	0.003935	0.34318	N	0.311977	0.999995	0.08975	N	2.42	0.70002	M	0.19	0.60236	T	-0.72	0.20358	N	0.157	0.16308	-0.8257	0.53575	T	0.190	0.54108	T	10	0.2955783	0.47126	T	0.01933	0.41663	T	0.148	0.39182	0.377	0.39156	0.708705863831	0.70616	0.19792167272459063	0.19709	0.0415351482305	0.04460	0.339318692684	0.16335	T	0.456861	0.79546	T	-0.199135	0.20931	T	-0.52382	0.19909	T	0.453734338283539	0.30934	T	0.566043	0.20025	T	0.07196072	0.15972	0.080344625	0.18168	0.07196072	0.15972	0.080344625	0.18167	-3.41	0.15191	T	.	.	0.077	0.06295	B	.	.	2.312643	0.29604	18.18	0.99155670109324467	0.53931	0.89090	0.49350	D	AEFDBI	0.238694	0.36078	N	0.0574970633272622	0.44489	2.721939	0.0374256184061307	0.41469	2.491804	0.99991686312002	0.45857	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.02	3.18	0.35615	2.648000	0.46313	4.521000	0.43687	-0.140000	0.12423	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.2177:0.1305:0.6517:0.0	6.399	0.20829	902	0.24074	.	.	.	.	.	.	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	0.07143	95.45	33	chr5	132864353	.	G	C	95.45	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.919e+00;DP=1050;ExcessHet=0.3300;FS=217.816;InbreedingCoeff=-0.0678;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=1.30;SOR=8.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,18:111:78:.:.:78,0,3035	18	0	3	0
chr5	135850452	135850452	G	A	exonic	SLC25A48	.	nonsynonymous SNV	SLC25A48:NM_001349336:exon3:c.G118A:p.G40R	.	.	433	1077	12	0	0	12	0.00554017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.067	B	0.015	B	0.006	N	1.000	N	-0.91	N	-1.13	T	-0.950	T	0.112	T	0.118	-1.242	0.054	0.555	0.189	0.219	6.210	0.095	0.0175462668687	0.0021	0.00119808	0.0024	0.0004	0.0011	0	0.0048	0.0027	0.0044	0.0036	0.0024256	375	154602	rs10455057	0.0027	0.0027	0.0026	0.0028	0.0047	0.0026	0.0026	0.0033	0.0028	0.0005	0.0017	0.0004	2.519e-05	0.0047	0.0047	0.0028	0.0023	0.0030	0.0026	0.0026	0.0022	0.0030	0.0033	0.0024	0.0023	0.0030	0.0028	0.0006	0.0022	0.0030	0.0003	0.0002	0.0069	0	0.0033	0.0014	0.0031	0.995	0.04957	T	0.811	0.09393	T	0.067	0.23653	B	0.015	0.17295	B	0.005700	0.32589	N	0.331523	1	0.81001	D	-0.85	0.01485	N	-1.13	0.77719	T	0.57	0.06253	N	0.218	0.30574	-0.9500	0.40972	T	0.112	0.40075	T	10	0.016314387	0.00344	T	0.017546	0.39293	T	0.095	0.27398	0.46	0.52753	0.173771789658	0.16945	.	.	0.335965822337	0.35601	0.309757918119	0.11871	T	0.042178	0.26097	T	-0.496311	0.00600	T	-0.489058	0.23490	T	0.00107627995024659	0.00010	T	0.767123	0.47714	T	0.0442975	0.07057	0.050858665	0.08067	0.0442975	0.07056	0.050858665	0.08066	-10.832	0.78728	D	.	.	0.104	0.24633	B	.;.;.;.;.;.	.;.;.;.;.;.	0.431732	0.08022	4.740	0.39269326978121166	0.02699	0.20435	0.21040	N	AEFDBI	0.118120	0.23111	N	-1.58152943384682	0.01359	0.05923644	-1.51213564435332	0.02251	0.1032121	0.00217253071264285	0.09210	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.55	0.555	0.16436	0.234000	0.17708	0.346000	0.17429	-0.724000	0.03774	0.026000	0.20160	0.007000	0.19602	0.158000	0.20581	0.232:0.1329:0.6351:0.0	6.210	0.19839	760	0.50470	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2517.98	34	chr5	135850452	.	G	A	2517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.90;DP=976;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.308;SOR=0.724	GT:AD:DP:GQ:PL	0/1:99,94:193:99:2532,0,2337	20	0	1	0
chr5	136052961	136052961	C	T	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon8:c.C968T:p.A323V,	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	295366	not_provided|Corneal_dystrophy	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001131,Human_Phenotype_Ontology:HP:0007775,MONDO:MONDO:0018102,MedGen:C0010036,Orphanet:34533	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.905	P	0.713	P	0.000	D	1.000	D	1.88	L	-2.92	D	0.729	D	0.808	D	0.457	3.110	16.39	5.65	2.811	5.956	20.073	0.482	0.0936295886399	0.0002	0.000599042	0.0004	0	0.0003	0	0	0.0003	0.0011	0.0012	0.0003493	54	154602	rs201210696	0.0004	0.0004	0.0004	0.0003	0.0011	0.0003	0.0003	0.0009	0.0008	0.0001	0.0004	0	2.519e-05	0	0.0007	0.0003	0.0004	0.0011	0.0003	0.0003	0.0003	0.0003	0.0015	0.0002	0.0002	0.0007	0.0005	4.813e-05	0	0.0006	0	0	0	0	0.0003	0.0009	0.0015	0.084	0.32929	T	0.104	0.43344	T	0.905	0.49920	P	0.342	0.42471	B	0.000001	0.62929	D	0.097639	0.999999	0.58761	D	1.69	0.43327	L	-2.92	0.91748	D	-2.5	0.54382	D	0.438	0.47672	0.729	0.93531	D	0.808	0.93504	D	10	0.09356344	0.16567	T	0.09363	0.76107	D	0.482	0.77206	.	.	0.942225882153	0.94162	0.743656641509649	0.74311	0.0919672583184	0.10381	0.520612001419	0.41713	T	0.721175	0.92121	D	-0.190678	0.22158	T	-0.0971123	0.63620	T	0.071263326559921	0.08827	T	0.936906	0.81072	D	0.20472185	0.42591	0.18389928	0.41408	0.22976309	0.45719	0.26404038	0.52217	-9.959	0.73665	D	0.4207052645317517	0.50954	0.236	0.54375	B	.;.	.;.	4.472223	0.69705	25.4	0.99803432450128327	0.88817	0.82581	0.41789	D	AEFBHCI	0.914190	0.87722	D	0.347499868493982	0.58608	4.034046	0.297806057186326	0.55412	3.704188	0.999999999999645	0.74766	0.50712	0.20391	0	0.610034	0.51514	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.65	5.65	0.86881	6.016000	0.70451	6.037000	0.52980	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.520000	0.29475	0.0:1.0:0.0:0.0	20.073	0.97731	775	0.48401	FAS1 domain|FAS1 domain|FAS1 domain;FAS1 domain|FAS1 domain|FAS1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1383.98	34	chr5	136052961	.	C	T	1383.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.490e-01;DP=836;ExcessHet=0.0000;FS=1.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.96;ReadPosRankSum=0.377;SOR=0.637	GT:AD:DP:GQ:PL	0/1:80,59:139:99:1398,0,2096	20	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.28	T	0.106	B	0.102	B	0.001	N	0.755	D	0.35	N	1.58	T	-1.019	T	0.045	T	0.06	3.188	16.67	5.29	2.473	2.054	10.020	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	1317.98	74	chr5	139887481	.	C	T	1317.98	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-4.144e+00;DP=2291;ExcessHet=6.1002;FS=235.435;InbreedingCoeff=-0.3991;MLEAC=11;MLEAF=0.324;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.733;SOR=11.408	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,27:124:55:0|1:139887481_C_T:55,0,3178:139887481	7	0	10	4
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.928	P	0.653	P	0.001	D	0.844	D	1.37	L	-0.42	T	-0.572	T	0.250	T	0.143	3.573	18.21	1.49	-0.008	0.043	8.579	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	1380.18	70	chr5	139887483	.	C	G,T	1380.18	.	AC=7,3;AF=0.184,0.079;AN=38;BaseQRankSum=-4.039e+00;DP=2146;ExcessHet=6.1002;FS=245.753;InbreedingCoeff=-0.3923;MLEAC=8,3;MLEAF=0.211,0.079;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.802;SOR=11.291	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,27,0:124:55:0|1:139887481_C_T:55,0,3178,346,3252,3597:139887481	9	0	7	2
chr5	140567368	140567368	T	C	exonic	SLC35A4	.	nonsynonymous SNV	SLC35A4:NM_080670:exon3:c.T199C:p.F67L,	.	.	393	1127	1	1	0	3	0.0013292	.	.	3484396	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	0.118	N	1.000	N	0.49	N	-0.24	T	-1.034	T	0.124	T	0.076	0.027	4.154	2.76	0.430	0.205	5.093	0.080	0.0227415159379	7.7e-05	0.000199681	0.0001	0	0	0	0	0.0002	0	0.0001	0.0001229	19	154602	rs140110376	0.0001	0.0001	0.0001	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0	0.0001	0	0	0	0.0014	0.0002	0.0002	0.0001	0.0001	0.0001	6.423e-05	0.0002	0.0004	8.16e-05	6.717e-05	0.0001	8.878e-05	4.809e-05	0	0	0	0	9.406e-05	0	0.0002	0.0005	0.0004	0.811	0.03028	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.118320	0.19119	N	0.556056	0.999999	0.08975	N	0	0.06538	N	-0.24	0.66834	T	0.01	0.06868	N	0.032	0.00825	-1.0344	0.19046	T	0.124	0.42799	T	9	0.020243376	0.00463	T	0.022742	0.45655	T	0.080	0.23350	0.531	0.63855	0.151104730317	0.14643	0.12332820674443024	0.12258	0.123196650637	0.13880	0.580125212669	0.50103	T	0.00604	0.05478	T	-0.432657	0.01429	T	-0.558934	0.16477	T	0.0133498318795385	0.00241	T	0.461354	0.13375	T	0.032793235	0.03371	0.035667084	0.02861	0.032793235	0.03371	0.035667084	0.02861	-0.085	0.00380	T	.	.	0.209	0.43775	B	.;.;.	.;.;.	0.836083	0.12076	8.630	0.78057545200330181	0.12137	0.11376	0.16593	N	AEFBCI	0.142040	0.26437	N	-0.646462245218893	0.17563	0.904829	-0.524358838131172	0.21492	1.162917	0.999819791306014	0.43459	0.706548	0.73137	0	0.685571	0.66316	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.16	2.76	0.31527	0.265000	0.18282	.	.	0.644000	0.52426	0.000000	0.06391	0.999000	0.35428	0.977000	0.56843	0.0:0.2312:0.1448:0.624	5.093	0.14056	218	0.91525	.;.;.	.	.	.	.	.	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	0.02381	2804.98	34	chr5	140567368	.	T	C	2804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.633e+00;DP=896;ExcessHet=0.0000;FS=0.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.67;ReadPosRankSum=-5.410e-01;SOR=0.647	GT:AD:DP:GQ:PL	0/1:77,102:179:99:2819,0,2029	20	0	1	0
chr5	140807609	140807609	C	T	exonic	PCDHA4	.	nonsynonymous SNV	PCDHA4:NM_018907:exon1:c.C422T:p.S141F	.	.	416	1102	3	1	0	5	0.00226347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.001	B	0.007	B	0.119	N	1.000	N	0.225	N	0.45	T	-1.063	T	0.055	T	0.054	-2.150	0.005	-1.36	-0.367	-0.234	1.509	0.022	0.00520267107011	.	0.000599042	0.0004	9.612e-05	8.637e-05	0	0	0.0006	0.0011	0.0001	1.94e-05	3	154602	rs554905188	0.0001	0.0003	0.0002	0.0001	0.0010	0.0001	0.0001	0.0005	0.0003	2.987e-05	0.0002	0.0017	0	1.872e-05	0.0010	0.0001	0.0003	5.797e-05	0.0003	0.0005	0.0004	0.0003	0.0008	0.0003	0.0002	0.0005	0.0004	7.22e-05	0	0.0008	0.0035	0	0	0	0.0003	0.0014	0.0004	0.833	0.02989	T	0.322	0.20745	T	0.0	0.07471	B	0.001	0.12992	B	0.118539	0.19110	N	0.377447	0.99999	0.08975	N	0.19	0.09125	N	0.45	0.56446	T	4.68	0.00031	N	0.066	0.09914	-1.0631	0.10997	T	0.055	0.23148	T	10	0.007317841	0.00166	T	0.005203	0.13248	T	0.022	0.04323	0.391	0.41443	0.263612267334	0.25957	0.09540722780455586	0.09472	.	.	.	.	.	0.037532	0.24508	T	-0.308192	0.07907	T	-0.680473	0.06954	T	0.0274341311002883	0.01606	T	0.0107989	0.00060	T	0.044188913	0.07020	0.05917365	0.11061	0.044188913	0.07020	0.05917365	0.11061	-0.215	0.00521	T	.	.	0.068	0.02733	B	.;.;.;.	.;.;.;.	0.077254	0.04842	1.439	0.92261435063528452	0.21644	0.04351	0.09918	N	ALL	0.050295	0.08777	N	-1.5048277468585	0.01818	0.07968396	-1.50160000301753	0.02332	0.1070999	0.999869121481555	0.44398	0.525926	0.21836	0	0.615948	0.52940	0	0.47417	0.07244	0	0.554799	0.18163	0	.	.	4.62	-1.36	0.08610	-0.133000	0.10430	.	.	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.115:0.21:0.2617:0.4132	1.509	0.02342	20	0.98525	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	1336.98	239	chr5	140807609	.	C	T	1336.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.01;DP=3053;ExcessHet=0.0000;FS=3.824;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.60;MQRankSum=-9.522e+00;QD=5.48;ReadPosRankSum=-3.996e+00;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:197,47:244:99:0|1:140807604_C_T:1351,0,7916:140807604	20	0	1	0
chr5	140927687	140927687	-	G	exonic	PCDHAC1	.	frameshift insertion	PCDHAC1:NM_018898:exon1:c.796dupG:p.E267Gfs*23	.	.	432	1076	13	1	0	15	0.00692201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0004	9.614e-05	0.0007	0	0	0.0006	0.0011	0	0.0003946	61	154602	rs536640692	0.0003	0.0003	0.0003	0.0003	0.0114	0.0003	0.0003	0.0092	0.0084	0.0004	0.0006	0.0002	0	0	0.0114	0.0003	0.0005	9.275e-05	0.0004	0.0004	0.0002	0.0006	0.0008	0.0003	0.0003	0.0005	0.0004	2.405e-05	0	0.0008	0	0	0	0.0102	0.0006	0.0019	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2038.94	33	chr5	140927687	.	T	TG	2038.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.340e-01;DP=1461;ExcessHet=0.0000;FS=1.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.149e+00;SOR=0.661	GT:AD:DP:GQ:PL	0/1:86,80:166:99:2053,0,2309	20	0	1	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.758	P	0.516	P	.	.	1.000	N	1.855	L	4.57	T	-0.969	T	0.012	T	0.448	1.619	11.37	2.79	0.455	-0.994	4.291	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,38,16:180:99:.:.:175,0,2410,318,2691,4654	5	0	5	9
chr5	141173766	141173766	G	A	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931A:p.A311T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.002	B	0.006	B	.	.	1.000	N	-0.505	N	4.98	T	-0.901	T	0.002	T	0.037	-0.559	1.475	2.79	0.455	-0.994	4.291	0.017	0.00591327826065	.	.	2.478e-05	9.839e-05	8.639e-05	0	0	0	0	6.072e-05	3.23e-05	5	154602	rs201447017	4.724e-05	4.721e-05	5.722e-05	3.716e-05	6.725e-05	3.797e-05	3.479e-05	4.009e-05	3.661e-05	5.986e-05	6.725e-05	0	0	0	0	5.13e-05	9.943e-05	1.16e-05	8.561e-05	8.542e-05	0.0001	5.395e-05	0.0001	4.968e-05	3.971e-05	6.299e-05	4.31e-05	0.0001	0	6.553e-05	0	0	0	0	7.357e-05	0.0005	0	0.798	0.03134	T	0.395	0.15255	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	0.075	0.08292	N	4.98	0.01344	T	0.37	0.03639	N	0.033	0.00882	-0.9010	0.47889	T	0.002	0.00769	T	9	0.028985262	0.01027	T	0.005913	0.15400	T	0.017	0.02790	0.197	0.10975	0.167679373172	0.16340	0.04559477965422199	0.04503	0.115026090571	0.12974	0.266463220119	0.05685	T	9.28E-4	0.00478	T	-0.542484	0.00324	T	-0.820046	0.01452	T	0.00890818803132437	0.00111	T	0.0506449	0.00361	T	0.02743792	0.01935	0.058982458	0.10991	0.02743792	0.01935	0.058982458	0.10991	-3.738	0.19880	T	.	.	0.072	0.04277	B	.	.	0.118537	0.05166	1.684	0.78187323793622165	0.12193	0.06778	0.12801	N	AEFDBI	0.084714	0.17170	N	-1.0643960782247	0.07308	0.3390868	-0.930179356539086	0.11384	0.5796107	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.2917	971.06	186	chr5	141173766	.	G	C,A	971.06	.	AC=5,2;AF=0.208,0.083;AN=24;BaseQRankSum=-4.234e+00;DP=3548;ExcessHet=2.5830;FS=244.867;InbreedingCoeff=-0.3782;MLEAC=7,3;MLEAF=0.292,0.125;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=0.532;SOR=10.819	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,38,16:180:99:.:.:175,0,2410,318,2691,4654	5	0	5	9
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.0	B	0.001	B	0.941	N	1.000	N	-1.57	N	-1.1	T	-1.019	T	0.099	T	0.051	-1.282	0.042	-1.96	-0.413	0.139	0.421	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	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	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,51,9:192:99:.:.:1384,0,4467,870,4543,5393	1	0	13	5
chr5	141303079	141303079	C	T	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787A:p.V263I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.021	B	0.039	B	0.941	N	1.000	N	0.65	N	-1.23	T	-0.928	T	0.215	T	0.091	-0.151	3.259	-1.96	-0.413	0.139	0.421	0.147	0.0182275345159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.07944	T	0.363	0.16815	T	0.021	0.18474	B	0.039	0.23607	B	0.940851	0.07593	N	1.028430	0.999997	0.08975	N	0.5	0.13406	N	-1.23	0.78860	T	0.06	0.06253	N	0.045	0.01740	-0.9283	0.44386	T	0.215	0.57626	T	10	0.071314245	0.10496	T	0.018228	0.40224	T	0.147	0.38986	0.339	0.32979	0.359557344763	0.35564	0.08275398820863436	0.08210	0.147289003395	0.16616	0.28638151288	0.08398	T	0.161028	0.50511	T	-0.18769	0.22597	T	-0.50738	0.21586	T	0.0446509129349204	0.04539	T	0.0730927	0.00533	T	0.038403146	0.05108	0.028814076	0.01154	0.038403146	0.05108	0.028814076	0.01154	-4.133	0.25775	T	.	.	0.080	0.07745	B	.	.	1.381003	0.17922	13.45	0.53492033685486196	0.04950	0.27226	0.23218	N	AEFDBI	0.033857	0.04094	N	-0.96113578187942	0.09444	0.4469869	-0.958533915171557	0.10726	0.542049	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	11030.59	183	chr5	141303079	.	C	G,T	11030.59	.	AC=13,2;AF=0.406,0.063;AN=32;BaseQRankSum=-5.525e+00;DP=4228;ExcessHet=17.4423;FS=211.915;InbreedingCoeff=-0.7194;MLEAC=15,2;MLEAF=0.469,0.063;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=0.978;SOR=13.406	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,51,9:192:99:.:.:1384,0,4467,870,4543,5393	1	0	13	5
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.031	B	0.072	B	0.002	N	0.665	D	2.66	M	-1.43	T	-0.297	T	0.436	T	0.223	1.515	11.02	1.42	0.324	2.506	6.656	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	.	.	.	.	.	.	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	0.4762	15997.73	187	chr5	141303081	.	A	G	15997.73	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.670e+00;DP=4433;ExcessHet=43.6797;FS=223.742;InbreedingCoeff=-0.9170;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.87;ReadPosRankSum=0.595;SOR=14.013	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,65:197:99:.:.:1471,0,4446	1	0	20	0
chr5	146286009	146286009	G	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.G3162C:p.E1054D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.984	D	0.935	D	0.000	D	1.000	D	2.24	M	-1.2	T	-0.077	T	0.530	D	0.312	3.405	17.50	0.414	0.113	1.464	8.777	0.401	0.126694259352	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.984	0.60733	D	0.935	0.67021	D	0.000001	0.62929	D	0.000000	0.99994	0.51968	D	2.57	0.75187	M	-1.2	0.78537	T	-2.43	0.53258	N	0.604	0.62188	-0.0768	0.80625	T	0.530	0.82549	D	10	0.56155825	0.64816	D	0.126694	0.80839	D	0.401	0.71479	0.107	0.01868	0.710301815084	0.70777	0.0974803881878346	0.09679	0.986908435057	0.73940	0.789129674435	0.80310	T	0.342279	0.71108	T	0.0376074	0.56730	T	-0.183756	0.56173	T	0.978155314922333	0.72188	D	0.924008	0.72230	D	0.5375406	0.69258	0.40438652	0.64867	0.5375406	0.69260	0.40438652	0.64868	-4.2	0.26751	T	.	.	0.635	0.70325	P	.	.	3.296734	0.45235	22.1	0.99785765923896841	0.87219	0.89146	0.49438	D	AEFGBI	0.237189	0.35951	N	0.309027367486255	0.56610	3.826061	0.216695905855177	0.50773	3.265896	0.999903693258869	0.45458	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	0.414	0.15624	1.641000	0.36812	2.352000	0.32320	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.6152:0.0:0.3848:0.0	8.777	0.33924	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2273	429.3	78	chr5	146286009	.	G	C	429.3	.	AC=5;AF=0.227;AN=22;BaseQRankSum=-1.959e+00;DP=1556;ExcessHet=1.1607;FS=123.785;InbreedingCoeff=-0.3072;MLEAC=7;MLEAF=0.318;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.696;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,6:62:16:0|1:146286004_T_C:16,0,2234:146286004	6	0	5	10
chr5	146286010	146286010	T	C	exonic	RBM27	.	nonsynonymous SNV	RBM27:NM_018989:exon21:c.T3163C:p.S1055P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.969	D	0.000	D	1.000	D	1.445	L	0.46	T	-0.526	T	0.275	T	0.605	3.216	16.77	5.32	1.998	3.571	15.261	0.178	0.0196224470012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.17	0.30436	T	0.995	0.67487	D	0.969	0.72001	D	0.000002	0.62929	D	0.000000	0.999957	0.52396	D	1.61	0.41143	L	0.46	0.56281	T	-2.19	0.49352	N	0.266	0.30118	-0.5258	0.67699	T	0.275	0.64701	T	10	0.2888462	0.46467	T	0.019622	0.42029	T	0.178	0.44724	0.108	0.01928	0.426039362998	0.42221	0.09694692585479496	0.09626	0.396786836768	0.40786	0.812551379204	0.83882	D	0.251116	0.62132	T	0.0244463	0.54980	T	-0.202661	0.54394	T	0.871832430362701	0.52172	D	0.90281	0.66017	D	0.4725479	0.65447	0.58739346	0.76067	0.4725479	0.65448	0.58739346	0.76068	-7.368	0.56679	T	.	.	0.622	0.69779	P	.	.	4.230383	0.64060	24.7	0.99856421454609945	0.93548	0.91631	0.53932	D	AEFGBI	0.628167	0.61035	D	0.54245640395686	0.69625	5.38347	0.542800382085668	0.70898	5.573445	0.999999878418952	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	3.683000	0.54396	6.145000	0.54110	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.261	0.73323	839	0.37672	.	.	.	.	.	.	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	0.09375	51.57	41	chr5	146286010	.	T	C	51.57	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.225e+00;DP=1488;ExcessHet=0.3300;FS=111.728;InbreedingCoeff=-0.1555;MLEAC=3;MLEAF=0.094;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=-2.400e-02;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,6:62:16:0|1:146286004_T_C:16,0,2234:146286004	13	0	3	5
chr5	149376922	149376928	GGGCCAG	-	exonic	IL17B	.	frameshift deletion	IL17B:NM_014443:exon2:c.119_125del:p.P40Lfs*12,	.	.	393	1128	1	0	0	1	0.000443066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	8.66e-05	0	0	3.027e-05	0	0.0011	0.0001423	22	154602	rs775409181	0.0001	0.0001	4.901e-05	0.0002	0.0016	9.093e-05	8.6e-05	0.0014	0.0013	0.0001	0	0	7.557e-05	0	0.0002	6.296e-06	3.312e-05	0.0016	9.194e-05	9.843e-05	7.71e-05	0.0001	0.0004	5.525e-05	4.363e-05	0.0001	0.0001	0.0003	0	6.533e-05	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2333.94	33	chr5	149376921	.	AGGGCCAG	A	2333.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.10;DP=859;ExcessHet=0.0000;FS=2.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.29;ReadPosRankSum=-1.270e-01;SOR=0.499	GT:AD:DP:GQ:PL	0/1:73,62:135:99:2348,0,2853	20	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.741	P	0.178	B	0.000	D	1.000	D	2	M	0.11	T	-0.790	T	0.177	T	0.375	3.984	20.4	5.18	1.567	5.717	15.162	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	2160.86	127	chr5	154834880	.	G	C	2160.86	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.995e+00;DP=2921;ExcessHet=17.4423;FS=258.744;InbreedingCoeff=-0.5414;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=1.13;ReadPosRankSum=0.501;SOR=12.076	GT:AD:DP:GQ:PL	0/1:93,36:137:99:141,0,1807	6	0	15	0
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	114730.68	413	chr5	157052557	.	C	*,CGTT	114730.68	.	AC=31,10;AF=0.738,0.238;AN=42;DP=11099;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=31,10;MLEAF=0.738,0.238;MQ=60.00;QD=11.64;SOR=0.614	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,471,0:473:99:1|1:157052548_TGG_T:21133,1431,0,19317,1567,19249:157052548	0	12	1	0
chr5	172897055	172897055	G	A	exonic	ERGIC1	.	nonsynonymous SNV	ERGIC1:NM_001031711:exon3:c.G136A:p.G46R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.99	D	0.666	P	0.000	D	1.000	D	0.84	L	.	.	-1.011	T	0.138	T	0.844	3.624	18.44	4.86	2.239	6.780	13.513	0.218	0.00881107248658	.	.	8.24e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs777001809	1.231e-05	1.231e-05	9.529e-06	1.513e-05	0.0002	7.7e-06	6.35e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	8.094e-06	4.968e-05	5.797e-05	1.971e-05	1.97e-05	3.854e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.072	0.40832	T	0.337	0.20293	T	0.99	0.63424	D	0.666	0.52990	P	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	1.13	0.28900	L	.	.	.	-1.22	0.38345	N	0.886	0.88466	-1.0111	0.26573	T	0.138	0.45489	T	9	0.5309372	0.63179	D	0.008811	0.23245	T	0.218	0.51265	0.516	0.61611	0.465923304355	0.46219	0.922069068733519	0.92183	1.00697876116	0.74614	0.808284163475	0.83229	D	0.050415	0.28589	T	0.241548	0.77808	D	0.206044	0.83457	D	0.809576392173767	0.47017	D	0.956904	0.84924	D	0.32251948	0.54851	0.23987906	0.49349	0.32251948	0.54851	0.23987906	0.49348	-4.749	0.33991	T	0.14740601947882567	0.17081	0.578	0.68450	P	.;.;.	.;.;.	5.323784	0.89355	30	0.99840689568539209	0.92143	0.93710	0.58970	D	AEFGBI	0.757990	0.69677	D	0.350314360546583	0.58756	4.049912	0.408501373619619	0.62094	4.419145	0.999999964627648	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635259	0.50027	0	.	.	4.86	4.86	0.62624	6.968000	0.75873	11.631000	0.93702	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0:1.0:0.0	13.513	0.60980	968	0.07033	Endoplasmic reticulum vesicle transporter, N-terminal;Endoplasmic reticulum vesicle transporter, N-terminal;Endoplasmic reticulum vesicle transporter, N-terminal	.	.	.	.	.	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	0.02381	1660.98	43	chr5	172897055	.	G	A	1660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=904;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=0.259;SOR=0.672	GT:AD:DP:GQ:PL	0/1:54,64:118:99:1675,0,1210	20	0	1	0
chr5	176238585	176238585	G	A	exonic	SIMC1	.	nonsynonymous SNV	SIMC1:NM_001308195:exon1:c.G77A:p.R26K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.927	P	0.953	D	.	.	1.000	N	0.695	N	1.85	T	-1.065	T	0.096	T	0.124	1.142	9.652	1.99	1.423	2.735	7.492	0.102	0.623530419659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.77e-06	7.525e-06	0	3.645e-06	2.688e-05	2.9e-07	1.1e-07	.	.	0	0	0	0	0	0	1.06e-06	0	2.688e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	1.0	0.13441	T	0.756	0.43409	P	0.567	0.49782	P	.	.	.	.	1	0.81001	D	.	.	.	1.85	0.27331	T	0.05	0.08033	N	0.285	0.32259	-1.0651	0.10526	T	0.096	0.36238	T	9	0.22926745	0.39851	T	0.62353	0.96747	D	0.102	0.29158	0.197	0.10975	0.348101942276	0.34424	0.1464323394786942	0.14565	1.17859640205	0.79955	.	.	.	0.005677	0.05129	T	-0.195466	0.21460	T	-0.51855	0.20443	T	0.545919299125671	0.34325	D	0.365963	0.08520	T	.	.	.	.	.	.	.	.	-4.634	0.32596	T	.	.	0.212	0.53648	B	.;.;.	.;.;.	3.745798	0.53668	23.4	0.9586406606775475	0.28027	0.43858	0.27191	N	AEFDGBCI	0.175574	0.30276	N	-0.0399637613033951	0.40051	2.372041	-0.12101812924847	0.34543	1.98822	0.806062573991594	0.24272	0.65757	0.49021	0	0.218748	0.04544	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	1.99	1.99	0.25423	2.763000	0.47287	9.462000	0.80861	0.476000	0.22017	1.000000	0.71638	1.000000	0.68203	0.103000	0.18424	0.0:0.0:1.0:0.0	7.492	0.26633	861	0.33516	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	700.98	33	chr5	176238585	.	G	A	700.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.566;DP=844;ExcessHet=0.0000;FS=3.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.03;MQRankSum=0.227;QD=9.22;ReadPosRankSum=1.99;SOR=0.504	GT:AD:DP:GQ:PL	0/1:43,33:76:99:715,0,998	20	0	1	0
chr5	176366382	176366382	-	GAGGACGAG	exonic	ARL10	.	nonframeshift insertion	ARL10:NM_001317948:exon2:c.186_187insGAGGACGAG:p.E69_P70insDEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.555e-05	0	0	0	0	8.559e-05	0.0018	0.0002	3.84e-05	1	26028	rs771899480	4.124e-05	4.104e-05	3.556e-05	4.698e-05	8.161e-05	3.26e-05	2.933e-05	3.784e-05	2.839e-05	2.996e-05	0	0	7.582e-05	0	0	4.141e-05	4.997e-05	8.161e-05	1.97e-05	1.968e-05	2.569e-05	1.343e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	681.94	37	chr5	176366382	.	C	CGAGGACGAG	681.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.780e-01;DP=694;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=29.65;ReadPosRankSum=-1.760e-01;SOR=0.420	GT:AD:DP:GQ:PL	0/1:6,17:23:99:696,0,201	20	0	1	0
chr5	176891505	176891505	G	C	exonic	HK3	.	nonsynonymous SNV	HK3:NM_002115:exon3:c.C142G:p.Q48E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.003	B	0.009	B	0.128	N	0.995	N	0.96	L	-4.73	D	-0.153	T	0.780	D	0.145	-0.453	1.903	4.87	2.240	2.143	10.279	0.407	0.127204419644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.783	0.03262	T	0.558	0.09175	T	0.003	0.11197	B	0.009	0.14300	B	0.128231	0.18739	N	0.451624	0.994693	0.23463	N	1.7	0.43825	L	-4.73	0.98066	D	-0.78	0.21644	N	0.232	0.26111	-0.1533	0.78834	T	0.780	0.92526	D	10	0.1749241	0.32397	T	0.127204	0.80898	D	0.407	0.71946	0.543	0.65589	0.967729093749	0.96738	0.17690706036254783	0.17609	0.161341295611	0.18212	0.318116754293	0.13135	T	0.164946	0.51059	T	0.0328749	0.56106	T	-0.190554	0.55537	T	0.0657039719561111	0.08035	T	0.723528	0.33695	T	0.10435954	0.24670	0.10602485	0.25498	0.10435954	0.24670	0.10602485	0.25498	-4.188	0.26577	T	.	.	0.095	0.14706	B	.	.	1.996201	0.25363	16.73	0.3912933633400697	0.02681	0.66688	0.33165	D	AEFDBI	0.497738	0.53213	N	-0.50833905759285	0.21809	1.160156	-0.347085978537447	0.26599	1.470283	0.999996876427571	0.74766	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.87	4.87	0.62877	1.809000	0.38560	5.913000	0.51050	0.662000	0.56354	0.039000	0.20931	0.998000	0.33993	0.892000	0.42986	0.0918:0.0:0.9082:0.0	10.279	0.42706	568	0.70638	Hexokinase, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2458.98	46	chr5	176891505	.	G	C	2458.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.430e-01;DP=900;ExcessHet=0.0000;FS=2.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.76;ReadPosRankSum=-1.175e+00;SOR=0.886	GT:AD:DP:GQ:PL	0/1:66,90:156:99:2473,0,1742	20	0	1	0
chr5	176968617	176968617	A	G	exonic	UIMC1	.	nonsynonymous SNV	UIMC1:NM_001199298:exon6:c.T1138C:p.S380P	.	.	424	1095	3	0	0	3	0.00136799	.	.	428383	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.422	N	1.000	N	-1.955	N	1.49	T	-0.975	T	0.012	T	0.072	-1.325	0.033	0.632	-0.135	1.850	2.763	0.061	0.00337396688117	0.0012	0.000599042	0.0012	0.0003	0.0005	0	0.0003	0.0018	0.0033	0.0007	0.0012419	192	154602	rs150697112	0.0017	0.0017	0.0017	0.0017	0.0019	0.0016	0.0016	0.0018	0.0018	0.0002	0.0006	0.0042	0	0.0003	0.0010	0.0019	0.0019	0.0008	0.0012	0.0012	0.0011	0.0013	0.0019	0.0011	0.0010	0.0016	0.0015	0.0003	0.0033	0.0008	0.0061	0	0.0005	0	0.0019	0.0009	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.422158	0.12856	N	0.718744	1	0.19072	N	-1.67	0.00374	N	1.49	0.31470	T	2.65	0.00200	N	0.036	0.01068	-0.9754	0.36037	T	0.012	0.04795	T	10	0.0031056702	0.00052	T	0.003374	0.07542	T	0.061	0.17616	.	.	0.119812018005	0.11559	0.05286877776808603	0.05228	0.186328379194	0.20943	0.274577111006	0.06747	T	0.039844	0.25328	T	-0.623431	0.00105	T	-0.67415	0.07345	T	0.00124151186140563	0.00012	T	0.444056	0.12368	T	0.04546225	0.07445	0.048153248	0.07091	0.04233708	0.06400	0.045369305	0.06087	-3.833	0.21298	T	.	.	0.045	0.00051	B	.;.	.;.	1.099917	0.14844	11.37	0.17051932713067353	0.00482	0.03232	0.08247	N	AEFBI	0.026461	0.01991	N	-1.19592972038351	0.05062	0.2298659	-0.950575426630766	0.10909	0.5525408	0.0601727643695432	0.15188	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	0.632	0.16877	1.918000	0.39636	2.951000	0.35712	-0.156000	0.11795	0.994000	0.38300	1.000000	0.68203	0.844000	0.39860	0.2061:0.1235:0.5428:0.1276	2.763	0.04984	762	0.50290	.;.	.	.	.	.	.	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	0.02381	2105.98	34	chr5	176968617	.	A	G	2105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.613e+00;DP=875;ExcessHet=0.0000;FS=0.577;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-4.840e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/1:78,86:164:99:2120,0,2020	20	0	1	0
chr5	177248247	177248247	G	A	exonic	NSD1	.	nonsynonymous SNV	NSD1:NM_022455:exon11:c.G4564A:p.D1522N	Beckwith-Wiedemann syndrome, Autosomal dominant;Leukemia, acute myeloid, Autosomal dominant;Sotos syndrome 1, Autosomal dominant	YES	0	1515	7	0	0	7	0.00230491	.	.	168189	Inborn_genetic_diseases|Sotos_syndrome|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0019349,MedGen:C0175695,OMIM:117550,Orphanet:821|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.959	D	0.467	P	0.001	D	1.000	N	1.355	L	-3.13	D	0.380	D	0.719	D	0.08	3.200	16.72	5.22	2.425	5.283	14.499	0.292	0.110510588419	7.7e-05	0.000399361	0.0008	9.831e-05	0	0	0.0002	0.0001	0	0.0056	0.0006727	104	154602	rs201483724	0.0004	0.0004	0.0002	0.0006	0.0052	0.0004	0.0003	0.0048	0.0046	0	6.71e-05	0.0010	0	1.872e-05	0.0021	4.047e-05	0.0005	0.0052	0.0002	0.0002	0.0001	0.0004	0.0062	0.0002	0.0002	0.0045	0.0039	0	0	0.0002	0	0	0	0	4.41e-05	0.0009	0.0062	0.005	0.65419	D	0.16	0.32891	T	0.733	0.42736	P	0.297	0.40924	B	0.000638	0.42799	D	0.100459	0.790248	0.29234	N	0.975	0.24501	L	-3.13	0.92829	D	-0.75	0.21644	N	0.216	0.26596	0.380	0.88802	D	0.719	0.90357	D	10	0.0038702786	0.00073	T	0.110511	0.78792	D	0.292	0.61157	.	.	0.833201245306	0.83161	0.5360873676290298	0.53533	0.854676176152	0.68704	0.540032982826	0.44450	T	0.289476	0.66226	T	-0.339064	0.05454	T	-0.259415	0.48882	T	0.061409850690675	0.07389	T	0.89481	0.63428	D	0.07395513	0.16561	0.07599371	0.16786	0.093532324	0.21970	0.09044703	0.21209	-4.451	0.30494	T	0.6339361804830066	0.70369	0.108	0.21877	B	.;.;.	.;.;.	4.182297	0.62975	24.5	0.99862111859365854	0.94093	0.97561	0.75557	D	AEFDBI	0.403165	0.47696	N	0.154939479309402	0.49046	3.10946	0.16227301507575	0.47797	3.004488	0.989402529358865	0.31815	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	5.716000	0.68088	11.935000	0.99966	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.0:0.8526:0.1474	14.499	0.67291	929	0.16858	.;.;.	.	.	.	.	.	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	0.02381	2263.98	38	chr5	177248247	.	G	A	2263.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.16;DP=929;ExcessHet=0.0000;FS=6.748;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-4.600e-02;SOR=1.132	GT:AD:DP:GQ:PL	0/1:121,92:213:99:2278,0,2822	20	0	1	0
chr5	177459118	177459118	G	A	exonic	DBN1	.	nonsynonymous SNV	DBN1:NM_001364152:exon4:c.C302T:p.P101L	.	.	434	1068	18	2	0	22	0.0101946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.556	P	0.965	N	1.000	D	0.55	N	1.33	T	-0.207	T	0.539	D	0.369	2.320	13.71	2.57	0.995	1.733	8.576	0.201	0.358665690535	0.0022	0.000599042	0.0035	0	0.0010	0	0.0090	0.0034	0.0057	0.0076	0.0030789	476	154602	rs34692220	0.0024	0.0024	0.0022	0.0026	0.0073	0.0023	0.0023	0.0069	0.0067	0.0002	0.0010	0.0137	2.544e-05	0.0083	0.0051	0.0016	0.0027	0.0073	0.0023	0.0023	0.0017	0.0029	0.0056	0.0021	0.0020	0.0040	0.0034	7.216e-05	0	0.0007	0.0124	0.0002	0.0116	0.0068	0.0020	0.0024	0.0056	0.108	0.57480	T	0.005	0.72224	D	0.804	0.45171	P	0.114	0.31755	B	0.965285	0.08196	N	0.983940	0.999939	0.52935	D	0.55	0.14455	N	-2.36	0.88143	D	-0.63	0.50502	N	0.349	0.42541	-0.2073	0.77484	T	0.539	0.82975	D	10	0.0077996254	0.00177	T	0.358666	0.92456	D	0.201	0.48592	.	.	0.779832608799	0.77780	0.28288821172734135	0.28201	0.14856997869	0.16756	0.577061295509	0.49671	T	0.119007	0.44023	T	-0.274101	0.11303	T	-0.162359	0.58139	T	0.0287665587495156	0.01801	T	0.824517	0.68205	T	0.030877778	0.02829	0.037521973	0.03422	0.030877778	0.02829	0.037521973	0.03422	-4.647	0.35791	T	.	.	0.058	0.09045	B	.;.;.;.	.;.;.;.	2.868064	0.37918	20.6	0.98510518477732345	0.42337	0.23300	0.22031	N	AEFDBHCI	0.067166	0.13189	N	-0.315826165910879	0.28546	1.575441	-0.35463121931207	0.26366	1.455877	0.999982361257741	0.51787	0.67177	0.52595	0	0.643519	0.57511	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	3.49	2.57	0.29928	1.152000	0.31275	5.679000	0.49287	0.676000	0.76740	0.257000	0.24919	1.000000	0.68203	0.129000	0.19529	0.0:0.2373:0.7627:0.0	8.576	0.32759	917	0.20147	.;.;.;.	.	.	.	.	.	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	0.02381	1570.98	35	chr5	177459118	.	G	A	1570.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.911;DP=804;ExcessHet=0.0000;FS=2.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.54;ReadPosRankSum=1.02;SOR=0.885	GT:AD:DP:GQ:PL	0/1:39,56:95:99:1585,0,1121	20	0	1	0
chr5	179904789	179904789	C	T	exonic	TBC1D9B	.	nonsynonymous SNV	TBC1D9B:NM_015043:exon2:c.G142A:p.V48M	.	.	416	1099	7	0	0	7	0.0031746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.999	D	0.000	D	1.000	D	2.08	M	1.91	T	-0.881	T	0.125	T	0.763	4.879	28.0	5.07	2.345	7.349	18.479	0.189	.	0.0040	0.000199681	0.0060	0.0009	0.0026	0	0.0072	0.0113	0	0.0017	0.0026002	402	154602	rs147600483	0.0037	0.0038	0.0038	0.0037	0.0043	0.0037	0.0036	0.0042	0.0041	0.0007	0.0016	0.0075	2.667e-05	0.0018	0.0014	0.0043	0.0027	0.0016	0.0029	0.0029	0.0033	0.0026	0.0046	0.0027	0.0026	0.0042	0.0040	0.0008	0.0154	0.0019	0.0089	0	0.0010	0	0.0046	0.0014	0.0015	0.032	0.44694	D	0.034	0.57104	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	1	0.81001	D	2.3	0.65703	M	1.91	0.23283	T	-0.95	0.25332	N	0.842	0.83987	-0.8811	0.49673	T	0.125	0.43028	T	10	0.011189967	0.00246	T	.	.	.	0.189	0.46613	.	.	0.612105117874	0.60898	0.5450258155943359	0.54428	0.766097499569	0.64522	0.934345781803	0.99215	D	0.015509	0.18828	T	-0.239242	0.15447	T	-0.114096	0.62283	T	0.0327628003661285	0.02432	T	.	.	.	0.24418615	0.47364	0.19817024	0.43636	0.24418615	0.47364	0.19817024	0.43635	-4.133	0.25789	T	.	.	0.439	0.69791	A	.;.;.	.;.;.	5.012631	0.83247	28.0	0.99903034904192378	0.97426	0.98411	0.82500	D	AEFDBI	0.910557	0.86862	D	0.767553138011636	0.84044	8.178708	0.739452507182283	0.85368	8.55947	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	5.07	0.68106	7.454000	0.79769	7.616000	0.62106	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:1.0:0.0:0.0	18.479	0.90752	846	0.36215	.;.;.	.	.	.	.	.	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	0.02381	644.98	34	chr5	179904789	.	C	T	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.42;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-1.013e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/1:32,25:57:99:659,0,728	20	0	1	0
chr6	7365515	7365515	C	A	exonic	CAGE1	.	nonsynonymous SNV	CAGE1:NM_205864:exon7:c.G1657T:p.A553S	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.908	P	0.436	B	0.694	N	1.000	N	1.5	L	1.49	T	-1.071	T	0.026	T	0.123	0.643	7.451	2.31	0.694	0.072	7.964	0.039	0.0075526838159	.	0.000399361	0.0001	0	0	0	0	0	0	0.0011	0.0001294	20	154602	rs527881100	6.365e-05	6.362e-05	2.724e-05	0.0001	0.0011	5.297e-05	4.913e-05	0.0009	0.0008	0	0	0	0	0	0.0002	0	0	0.0011	1.97e-05	1.968e-05	1.285e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.992e-05	0	0	0	0	0	0	0	0	0	0.0006	0.412	0.10083	T	0.483	0.15650	T	0.793	0.50127	P	0.23	0.45556	B	0.693897	0.10152	N	0.848615	0.999998	0.08975	N	1.845	0.48678	L	1.48	0.32958	T	-0.6	0.19509	N	0.215	0.24010	-1.0705	0.09304	T	0.026	0.10998	T	10	0.01879567	0.00412	T	0.007553	0.20033	T	0.039	0.10176	0.247	0.18293	0.44143026662	0.43763	0.026230130015365994	0.02573	0.115032915398	0.12980	0.295571029186	0.09743	T	0.005549	0.05002	T	-0.565865	0.00234	T	-0.636043	0.09960	T	0.898453414440155	0.55056	D	0.525647	0.17278	T	0.06425408	0.13612	0.056419894	0.10077	0.06425408	0.13612	0.056419894	0.10077	-2.822	0.09084	T	.	.	0.101	0.23005	B	.;.;.;.;.	.;.;.;.;.	1.704220	0.21705	15.31	0.97763723976704586	0.35826	0.09117	0.14936	N	AEFBI	0.079368	0.16030	N	-0.366808966739811	0.26658	1.456635	-0.379924480784323	0.25596	1.408581	2.1828604620346E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.5	2.31	0.27816	0.071000	0.14461	0.056000	0.14067	0.599000	0.40250	0.110000	0.22992	0.087000	0.22477	0.195000	0.21750	0.0:0.7029:0.0:0.2971	7.964	0.29248	686	0.59327	.;.;.;.;.	.	.	.	.	.	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	0.02381	628.98	33	chr6	7365515	.	C	A	628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.526;DP=756;ExcessHet=0.0000;FS=1.069;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-1.503e+00;SOR=0.483	GT:AD:DP:GQ:PL	0/1:32,23:55:99:643,0,840	20	0	1	0
chr6	10556940	10556940	A	G	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_001491:exon1:c.A517G:p.R173G,	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	.	0	1516	6	0	0	6	0.00197498	.	.	305328	Blood_group,_I_system|Cataract_13_with_adult_I_phenotype	MedGen:C0020717,OMIM:110800|MONDO:MONDO:0007289,MedGen:C3805373,OMIM:116700,Orphanet:91492	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.03	D	0.03	B	0.062	B	.	.	0.939	D	1.87	L	2.69	T	-1.087	T	0.019	T	0.63	1.243	10.04	2.5	0.293	0.993	12.201	0.187	.	.	0.00539137	0.0035	9.612e-05	0.0003	0	0	2.999e-05	0.0011	0.0252	0.003053	472	154602	rs560637463	0.0015	0.0015	0.0009	0.0022	0.0248	0.0015	0.0015	0.0239	0.0236	2.988e-05	0	0	0	0	0.0012	2.878e-05	0.0013	0.0248	0.0008	0.0008	0.0003	0.0013	0.0241	0.0007	0.0006	0.0205	0.0192	2.406e-05	0	0	0	0.0004	0	0	2.94e-05	0	0.0241	.	.	.	0.01	0.65728	D	.	.	.	.	.	.	.	.	.	.	0.939042	0.37247	D	.	.	.	2.69	0.12268	T	-4.5	0.78135	D	0.463	0.49965	-1.0875	0.05960	T	0.019	0.07986	T	9	0.012804747	0.00274	T	.	.	.	0.187	0.46274	0.69	0.82748	0.266843984389	0.26308	.	.	.	.	.	.	.	.	.	.	-0.42084	0.01689	T	-0.357687	0.38321	T	0.0363826579036718	0.03047	T	.	.	.	.	.	.	.	.	.	.	.	-6.937	0.53573	T	.	.	0.108	0.20313	B	.;.	.;.	1.337800	0.17438	13.16	0.97793505495766664	0.36014	0.26160	0.22912	N	AEFDGBHCI	0.292291	0.40320	N	-0.598362174627201	0.18994	0.9906598	-0.621975636967352	0.18929	1.013396	0.999999451664711	0.74766	0.441713	0.08003	0	0.446627	0.06534	0	0.52208	0.10781	0	0.650387	0.60102	1	.	.	5.05	2.5	0.29355	0.755000	0.26070	2.691000	0.34088	0.756000	0.94297	0.092000	0.22623	0.003000	0.18671	0.840000	0.39645	0.5904:0.4096:0.0:0.0	12.201	0.53633	813	0.42397	.;.	.	.	.	.	.	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	0.02381	1416.98	36	chr6	10556940	.	A	G	1416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e+00;DP=864;ExcessHet=0.0000;FS=2.242;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=-4.010e-01;SOR=0.939	GT:AD:DP:GQ:PL	0/1:77,56:133:99:1431,0,2140	20	0	1	0
chr6	20739586	20739586	G	C	exonic	CDKAL1	.	nonsynonymous SNV	CDKAL1:NM_017774:exon6:c.G439C:p.D147H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.725	P	0.834	P	0.000	D	1.000	D	1.52	L	0.88	T	-0.843	T	0.169	T	0.653	2.902	15.67	4.77	2.192	8.674	16.602	0.238	0.0164497076144	.	0.00159744	0.0005	0	8.755e-05	0	0	0	0.0011	0.0034	0.0004204	65	154602	rs572119016	0.0002	0.0002	9.948e-05	0.0003	0.0029	0.0002	0.0002	0.0026	0.0025	2.992e-05	0	0	0	0	0.0003	2.7e-06	0.0002	0.0029	0.0001	0.0001	6.424e-05	0.0002	0.0043	9.143e-05	7.699e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0	0.0043	0.028	0.46129	D	0.084	0.41239	T	0.066	0.23586	B	0.063	0.27082	B	0.000001	0.62929	D	0.055938	0.999998	0.58761	D	2.34	0.67151	M	0.84	0.47477	T	-2.66	0.56945	D	0.573	0.59563	-0.8429	0.52453	T	0.169	0.50923	T	10	0.011422008	0.00250	T	0.01645	0.37712	T	0.238	0.54217	0.498	0.58835	0.223474106383	0.21959	0.7851317473490002	0.78464	1.01276443992	0.74830	0.714356184006	0.69224	T	0.514895	0.82923	D	-0.262737	0.12582	T	-0.15323	0.58956	T	0.133196867187515	0.15674	T	0.835416	0.50550	T	0.42354622	0.62327	0.2975687	0.55790	0.444108	0.63667	0.27392375	0.53315	-8.561	0.64832	D	.	.	0.253	0.50627	B	.;.	.;.	4.598086	0.72796	25.9	0.99221485473490689	0.55901	0.98182	0.80315	D	AEFI	0.819181	0.74026	D	0.347020382480745	0.58582	4.031346	0.426065789532619	0.63192	4.54838	0.999993751456609	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	4.77	4.77	0.60425	9.262000	0.94771	8.485000	0.77311	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	16.602	0.84671	918	0.19598	Methylthiotransferase, N-terminal|Radical SAM;Methylthiotransferase, N-terminal|Radical SAM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	764.98	33	chr6	20739586	.	G	C	764.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=758;ExcessHet=0.0000;FS=3.094;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-1.309e+00;SOR=1.113	GT:AD:DP:GQ:PL	0/1:47,32:79:99:779,0,1194	20	0	1	0
chr6	26468202	26468202	G	C	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197233:exon7:c.G1054C:p.V352L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.04	B	0.048	B	0.005	N	1.000	N	1.3	L	0.18	T	-1.028	T	0.046	T	0.053	-0.984	0.284	0.827	0.195	0.026	3.473	0.046	0.0113536328415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.322	0.13522	T	0.694	0.10429	T	0.04	0.21238	B	0.048	0.24975	B	0.004762	0.33407	N	0.137167	1	0.08975	N	1.02	0.25474	L	0.18	0.60361	T	-1.07	0.27876	N	0.037	0.01135	-1.0282	0.21038	T	0.046	0.19879	T	10	0.103967994	0.19141	T	0.011354	0.28886	T	0.046	0.12618	0.696	0.83313	0.330069100803	0.32608	0.18803037934269917	0.18721	0.073190021523	0.08211	0.332187712193	0.15264	T	0.002426	0.01816	T	-0.263576	0.12485	T	-0.616385	0.11471	T	0.136818408966064	0.15998	T	0.253675	0.03893	T	0.08667843	0.20157	0.044379774	0.05736	0.08667843	0.20157	0.044379774	0.05735	-5.069	0.38799	T	.	.	0.183	0.42346	B	.;.	.;.	1.079481	0.14625	11.18	0.65931159684803642	0.07913	0.17428	0.19833	N	AEFDBI	0.148750	0.27270	N	-1.15219466408591	0.05744	0.2626631	-1.21295770557281	0.05701	0.2723853	0.999415319775984	0.39577	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	0.827	0.17972	-0.311000	0.08164	1.108000	0.24132	-0.191000	0.09375	0.000000	0.06391	0.000000	0.08366	0.086000	0.17578	0.1419:0.0:0.6121:0.246	3.473	0.07138	637	0.64373	.;SPRY domain|B30.2/SPRY domain|SPRY domain|Butyrophilin subfamily 1/2, SPRY/PRY domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1	101.74	119	chr6	26468202	.	G	C	101.74	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-5.090e+00;DP=3171;ExcessHet=0.3300;FS=149.650;InbreedingCoeff=-0.1659;MLEAC=4;MLEAF=0.133;MQ=60.00;MQRankSum=0.00;QD=0.15;ReadPosRankSum=1.79;SOR=10.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:162,48:210:54:.:.:54,0,3725	12	0	3	6
chr6	29942795	29942795	C	T	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon2:c.C112T:p.R38W	.	.	1	1321	200	0	0	200	0.070373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.98	D	0.690	U	0.991	N	3.54	H	5.54	T	-0.994	T	0.009	T	0.742	2.152	13.15	1.87	0.363	0.209	5.323	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	.	.	.	.	.	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	0.119	926.44	142	chr6	29942795	.	C	T	926.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-8.950e-01;DP=2773;ExcessHet=1.1607;FS=4.085;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.24;MQRankSum=-6.125e+00;QD=1.24;ReadPosRankSum=2.87;SOR=0.953	GT:AD:DP:GQ:PL	0/1:119,29:148:99:321,0,3902	16	0	5	0
chr6	29942948	29942948	C	0	exonic	HLA-A	.	.	.	.	.	4	962	413	52	91	608	0.211798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	11446.09	83	chr6	29942948	.	C	G,*	11446.09	.	AC=7,5;AF=0.167,0.119;AN=42;BaseQRankSum=2.18;DP=2279;ExcessHet=3.2961;FS=4.407;InbreedingCoeff=-0.1632;MLEAC=7,5;MLEAF=0.167,0.119;MQ=58.86;MQRankSum=-2.836e+00;QD=8.92;ReadPosRankSum=-1.240e+00;SOR=1.060	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:94,0,17:111:99:0|1:29942911_A_G:431,714,4661,0,3947,3896:29942911	10	1	5	0
chr6	29942984	29942984	G	0	exonic	HLA-A	.	.	.	.	.	21	460	694	307	40	1348	0.587074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	27213.23	96	chr6	29942984	.	G	A,*	27213.23	.	AC=17,4;AF=0.447,0.105;AN=38;BaseQRankSum=2.07;DP=1862;ExcessHet=2.0051;FS=0.540;InbreedingCoeff=-0.1455;MLEAC=18,4;MLEAF=0.474,0.105;MQ=58.85;MQRankSum=-2.139e+00;QD=18.59;ReadPosRankSum=-7.460e-01;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	1|2:0,68,10:78:99:1|0:29942911_A_G:3275,420,215,2855,0,2825:29942911	3	4	8	2
chr6	29942985	29942985	A	0	exonic	HLA-A	.	.	.	.	.	8	1279	183	12	40	247	0.0748644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	3424.32	96	chr6	29942985	.	A	G,*	3424.32	.	AC=3,3;AF=0.094,0.094;AN=32;BaseQRankSum=1.35;DP=1731;ExcessHet=0.1217;FS=2.663;InbreedingCoeff=0.0413;MLEAC=4,4;MLEAF=0.125,0.125;MQ=57.98;MQRankSum=-3.446e+00;QD=8.10;ReadPosRankSum=-2.600e-01;SOR=0.917	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:38,30,10:78:99:1|0:29942942_G_C:1145,0,1505,840,1176,2405:29942942	11	1	1	5
chr6	29943300	29943300	G	C	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.G376C:p.D126H	.	.	0	1474	41	7	0	55	0.018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.127	U	0.671	N	3.785	H	5.38	T	-1.087	T	0.018	T	0.598	2.360	13.85	2.87	0.884	2.289	10.996	0.166	.	0.0023	0.00698882	0.0051	0.0010	0.0034	0.0081	0.0047	0.0043	0.0090	0.0095	0.0039391	609	154602	rs199474490	0.0044	0.0043	0.0039	0.0048	0.0188	0.0043	0.0042	0.0146	0.0131	0.0015	0.0042	0.0301	0.0069	0.0030	0.0188	0.0028	0.0066	0.0141	0.0009	0.0036	0.0008	0.0009	0.0046	0.0007	0.0006	0.0020	0.0014	0.0003	0	0.0009	0.0144	0.0027	0.0008	0	0.0004	0.0014	0.0046	0.003	0.68238	D	0.018	0.59732	D	0.022	0.90584	B	0.529	0.97372	P	0.126621	0.02772	U	13.091800	0.671307	0.30362	N	.	.	.	5.38	0.01033	T	-4.99	0.83092	D	0.284	0.32701	-1.0870	0.06048	T	0.018	0.07282	T	10	0.008825779	0.00200	T	.	.	.	0.166	0.42578	.	.	0.648470103757	0.64555	0.24578017633699462	0.24492	0.273103400774	0.29815	0.344277799129	0.17075	T	0.036046	0.23955	T	-0.392348	0.02598	T	-0.335542	0.40848	T	0.0927495050700933	0.11540	T	0.146985	0.01214	T	0.6519732	0.75469	0.672446	0.80775	0.6519732	0.75471	0.672446	0.80776	-9.897	0.73292	D	.	.	0.260	0.51985	B	.;.;.;.;.	.;.;.;.;.	2.785315	0.36596	20.3	0.96876741612568884	0.31442	0.55369	0.29847	D	AEFDBHCIJ	0.695273	0.65400	D	0.145546896504087	0.48600	3.070395	0.0174266624164014	0.40524	2.419858	0.999999991545664	0.74766	0.766844	0.99359	0	0.52208	0.09955	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	3.78	2.87	0.32523	2.151000	0.41888	.	.	-0.356000	0.05535	0.599000	0.27739	0.000000	0.08366	0.007000	0.07825	0.0:0.1918:0.8082:0.0	10.996	0.46792	862	0.33134	MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains;MHC class I-like antigen recognition-like|MHC class I alpha chain, alpha1 alpha2 domains	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2421.98	136	chr6	29943300	.	G	C	2421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.93;DP=2588;ExcessHet=0.0000;FS=0.680;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.38;ReadPosRankSum=1.17;SOR=0.573	GT:AD:DP:GQ:PL	0/1:60,65:125:99:2436,0,2275	20	0	1	0
chr6	29943542	29943542	G	0	exonic	HLA-A	.	.	.	.	.	2	437	1008	1	74	1084	0.536093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	6146.8	107	chr6	29943542	.	G	T,*	6146.8	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-1.114e+00;DP=2095;ExcessHet=14.4320;FS=2.349;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=58.53;MQRankSum=-3.892e+00;QD=4.14;ReadPosRankSum=1.73;SOR=0.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,20,12:101:67:.:.:311,0,2439,67,2104,3173	6	0	13	1
chr6	29944565	29944565	G	A	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon5:c.G961A:p.V321M	.	.	3	1323	186	10	0	206	0.07223	.	.	1781407	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	.	.	no_classification_for_the_single_variant	no_classification_for_the_single_variant	0	D	0.913	P	0.691	P	0.212	U	1.000	N	3.09	M	5.65	T	-1.057	T	0.003	T	0.284	0.247	5.337	-6.27	-0.955	-0.236	2.239	0.070	.	.	0.0255591	0.0210	0.0424	0.0124	0.0028	0.0259	0.0233	0.0282	0.0127	0.0014359	222	154602	rs1059896	0.0002	0.0030	0.0001	0.0002	0.0006	0.0001	0.0001	0.0004	0.0004	0.0005	0.0005	5.967e-05	4.102e-05	0.0001	0.0002	9.919e-05	0.0001	0.0006	0.0002	0.0077	0.0002	0.0003	0.0003	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0003	0	0.0003	0	0.0003	0.031	0.45039	D	0.03	0.54159	D	0.003	0.50474	B	0.017	0.53831	B	0.211648	0.16350	U	0.430133	1	0.08975	N	.	.	.	5.65	0.00800	T	-1.02	0.28084	N	0.138	0.13626	-1.0572	0.12465	T	0.003	0.01026	T	10	0.002677232	0.00041	T	.	.	.	0.070	0.20419	.	.	.	.	0.12531310856783362	0.12457	0.836547363532	0.67840	0.272338211536	0.06448	T	0.055992	0.30162	T	-0.581	0.00190	T	-0.55227	0.17107	T	0.0345302149775132	0.02728	T	0.848015	0.52922	T	0.024210302	0.01230	0.04359398	0.05459	0.024210302	0.01230	0.04359398	0.05459	-10.499	0.76842	D	.	.	0.123	0.27821	B	.;.;.	.;.;.	1.364435	0.17740	13.34	0.51719110658237677	0.04614	0.02367	0.06739	N	AEFGBHCI	0.256454	0.37537	N	-0.906902056130523	0.10679	0.5115168	-1.16424901818202	0.06515	0.3138758	0.999999991975517	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	3.33	-6.27	0.01850	-0.868000	0.04345	.	.	-1.242000	0.01313	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2058:0.4163:0.2375:0.1404	2.239	0.03769	862	0.33134	.;.;.	.	.	.	.	.	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	9241.66	230	chr6	29944565	.	G	A	9241.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.048e+00;DP=4119;ExcessHet=0.0000;FS=2.490;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=59.94;MQRankSum=-1.790e-01;QD=22.71;ReadPosRankSum=-2.330e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:165,65:230:99:.:.:1310,0,5680	19	1	1	0
chr6	30071298	30071298	T	C	exonic	RNF39	.	nonsynonymous SNV	RNF39:NM_025236:exon4:c.A1076G:p.E359G,	.	.	425	1056	36	5	0	46	0.021316	.	.	2822805	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.006	B	0.461	N	1.000	N	0.345	N	-0.52	T	-1.029	T	0.073	T	0.065	-0.487	1.760	3.13	1.030	0.501	9.058	0.069	.	0.0013	0.00698882	0.0043	0.0010	0.0025	0.0058	0.0043	0.0037	0.0076	0.0124	0.0024967	386	154602	rs200705517	0.0026	0.0025	0.0023	0.0028	0.0145	0.0025	0.0024	0.0119	0.0109	0.0008	0.0022	0.0202	0.0034	0.0036	0.0145	0.0015	0.0044	0.0109	0.0027	0.0027	0.0026	0.0028	0.0095	0.0025	0.0024	0.0074	0.0066	0.0006	0	0.0025	0.0225	0.0095	0.0043	0.0238	0.0018	0.0033	0.0093	0.348	0.12386	T	0.372	0.16376	T	0.0	0.02946	B	0.006	0.12133	B	0.461370	0.12387	N	0.660669	1	0.08975	N	0.1	0.08449	N	-0.52	0.70717	T	-0.77	0.21429	N	0.032	0.00825	-1.0294	0.20649	T	0.073	0.29610	T	9	0.0051576495	0.00112	T	.	.	.	0.069	0.20116	.	.	0.32980341726	0.32591	0.4892985979737355	0.48849	1.33213483434	0.83669	0.746568977833	0.73940	T	5.78E-4	0.00232	T	-0.576066	0.00204	T	-0.594988	0.13237	T	0.0012265302896953	0.00012	T	.	.	.	0.053899508	0.10267	0.11954944	0.28855	0.053899508	0.10267	0.11954944	0.28854	-2.098	0.03575	T	.	.	0.049	0.00112	B	.	.	1.341678	0.17480	13.19	0.79342732161236129	0.12699	0.01186	0.04246	N	AEFBHCI	0.023291	0.01277	N	-0.956425136926051	0.09549	0.4524285	-0.941654056973241	0.11117	0.5644133	0.999988199632191	0.51787	0.455138	0.09556	0	0.550933	0.16991	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.01	3.13	0.35090	-0.908000	0.04171	.	.	-0.374000	0.05429	0.000000	0.06391	0.000000	0.08366	0.037000	0.13953	0.0:0.8866:0.0:0.1134	9.058	0.35578	862	0.33134	Butyrophylin-like, SPRY domain|B30.2/SPRY domain|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	0.02381	979.98	54	chr6	30071298	.	T	C	979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.516e+00;DP=893;ExcessHet=0.0000;FS=2.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-5.900e-02;SOR=1.035	GT:AD:DP:GQ:PL	0/1:33,37:70:99:994,0,886	20	0	1	0
chr6	31028713	31028713	C	0	exonic	MUC22	.	.	.	.	.	482	658	261	50	71	432	0.215265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	200572.81	770	chr6	31028713	.	C	T,*	200572.81	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=1.28;DP=14734;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=13,2;MLEAF=0.310,0.048;MQ=59.98;MQRankSum=0.00;QD=20.50;ReadPosRankSum=-4.400e-01;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,912,0:912:99:1|1:31028713_C_T:39518,2744,0,39518,2744,39518:31028713	9	2	8	0
chr6	31029302	31029302	G	A	exonic	MUC22	.	nonsynonymous SNV	MUC22:NM_001198815:exon3:c.G3871A:p.A1291T	.	.	440	1022	56	4	0	64	0.0303605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00958466	0.0191	0	0.0111	0	.	0.0074	0.0254	0.0242	0.0022962	355	154602	rs140778074	0.0095	0.0089	0.0088	0.0101	0.0261	0.0093	0.0093	0.0251	0.0248	0.0010	0.0086	0.0041	0.0008	0.0061	0.0131	0.0090	0.0098	0.0261	0.0082	0.0082	0.0082	0.0081	0.0250	0.0078	0.0077	0.0214	0.0200	0.0014	0.0011	0.0087	0.0040	0.0016	0.0049	0.0216	0.0120	0.0155	0.0250	0.514	0.07401	T	0.697	0.05786	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.53	0.14038	T	-0.24	0.10833	N	0.005	0.00034	.	.	.	.	.	.	.	0.0037527084	0.00070	T	.	.	.	.	.	.	.	.	.	0.00618410336229997	0.00587	.	.	0.202391773462	0.00529	T	0.003239	0.02647	T	-0.782522	0.00011	T	-0.878562	0.00666	T	.	.	.	0.30457	0.05801	T	0.020495566	0.00610	0.042567518	0.05100	0.020495566	0.00610	0.042567518	0.05100	-1.293	0.01390	T	.	.	0.070	0.03336	B	.	.	-1.995273	0.00102	0.002	0.44370061946708228	0.03406	0.00081	0.00551	N	AEFBI	0.009208	0.00051	N	.	.	.	.	.	.	0.00318531519236751	0.09978	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.82	-3.92	0.03880	-6.742000	0.00068	.	.	-3.019000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.52:0.0:0.239:0.241	3.641	0.07706	929	0.16858	.	XXbac-BPG299F13.17|MIR6891|PSORS1C3|XXbac-BPG299F13.17|MIR6891|XXbac-BPG299F13.17|TCF19|XXbac-BPG299F13.17|MIR6891|XXbac-BPG299F13.17|XXbac-BPG299F13.17|XXbac-BPG299F13.17|MIR6891|TCF19|XXbac-BPG299F13.17|MIR6891|XXbac-BPG299F13.17|XXbac-BPG181B23.7|XXbac-BPG299F13.17|HLA-B|XXbac-BPG299F13.17|XXbac-BPG299F13.17|MIR6891|VARS2|XXbac-BPG299F13.17|MIR6891	Adipose_Subcutaneous|Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Adipose_Visceral_Omentum|Artery_Coronary|Artery_Tibial|Artery_Tibial|Artery_Tibial|Colon_Transverse|Esophagus_Muscularis|Heart_Atrial_Appendage|Heart_Atrial_Appendage|Lung|Lung|Lung|Muscle_Skeletal|Muscle_Skeletal|Nerve_Tibial|Pancreas|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Skin_Sun_Exposed_Lower_leg|Thyroid|Thyroid|Whole_Blood	TCF19|TCF19|HLA-L	Cells_Cultured_fibroblasts|Esophagus_Gastroesophageal_Junction|Whole_Blood	rs140778074	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	0.025	11686.33	657	chr6	31029302	.	G	A	11686.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.533e+00;DP=13272;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=13.95;ReadPosRankSum=2.12;SOR=0.682	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,442:838:99:0|1:31029301_T_C:11700,0,10289:31029301	19	0	1	1
chr6	31029724	31029753	AGGCTCTGAGACCACCACAGCCTCCACTGC	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4293_4322del:p.A1451_T1460del	.	.	421	1050	18	21	12	72	0.0277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0008	0.0009	0.0010	0.0037	0.0009	0.0009	0.0032	0.0030	0.0018	0.0037	0.0038	0.0010	0.0020	0.0032	0.0007	0.0016	0.0004	0.0045	0.0038	0.0046	0.0044	0.0074	0.0041	0.0040	0.0059	0.0053	0.0046	0	0.0074	0.0098	0.0021	0.0013	0.0366	0.0042	0.0048	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	3/3:1,2,0,354:357:99:21892,23214,38572,22772,28822,28030,1257,2413,2120,0	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTASTAGSETTTAST	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	3/3:1,2,0,354:357:99:21892,23214,38572,22772,28822,28030,1257,2413,2120,0	11	0	1	6
chr6	31029753	31029753	-	AGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4322_4323insAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC:p.T1460_S1461insAGSETTTASTAGSETTTAST	.	.	0	206	1	0	19	20	0.00242131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	37356.82	708	chr6	31029723	.	AAGGCTCTGAGACCACCACAGCCTCCACTGC	A,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC,AAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGCAGGCTCTGAGACCACCACAGCCTCCACTGC	37356.82	.	AC=1,1,3;AF=0.033,0.033,0.100;AN=30;BaseQRankSum=1.54;DP=15267;ExcessHet=0.0409;FS=0.557;InbreedingCoeff=0.0715;MLEAC=1,1,4;MLEAF=0.033,0.033,0.133;MQ=59.44;MQRankSum=-5.220e-01;QD=27.86;ReadPosRankSum=-1.086e+00;SOR=0.767	GT:AD:DP:GQ:PL	3/3:1,2,0,354:357:99:21892,23214,38572,22772,28822,28030,1257,2413,2120,0	11	0	1	6
chr6	31138724	31138724	-	C	exonic	PSORS1C1	.	frameshift insertion	PSORS1C1:NM_014068:exon5:c.112dupC:p.H40Pfs*3,	.	.	442	561	311	61	147	580	0.278457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	80570.49	135	chr6	31138723	.	TC	TCC,T	80570.49	.	AC=15,5;AF=0.357,0.119;AN=42;BaseQRankSum=0.541;DP=5630;ExcessHet=8.0185;FS=0.525;InbreedingCoeff=-0.3364;MLEAC=15,5;MLEAF=0.357,0.119;MQ=60.00;MQRankSum=0.00;QD=16.94;ReadPosRankSum=0.407;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,234,0:237:99:.:.:7200,717,0,7142,714,7104	4	3	9	0
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M	.	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.028	B	0.035	B	.	.	1.000	P	2.105	M	5.37	T	-0.965	T	0.002	T	0.376	-0.110	3.463	-1.63	-0.380	0.547	3.715	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	24199.8	109	chr6	31270002	.	C	T	24199.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-8.100e-01;DP=3021;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=59.14;MQRankSum=-1.400e-01;QD=18.73;ReadPosRankSum=-1.480e-01;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,121:121:99:1|1:31269990_T_C:5445,364,0:31269990	12	1	8	0
chr6	31270056	31270056	T	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.A925T:p.M309L	.	.	81	51	300	1006	84	2396	0.957746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.0	B	.	.	1.000	N	1.575	L	5.84	T	-1.004	T	0.001	T	0.425	-0.069	3.663	-3.63	-1.536	-2.290	10.581	0.120	.	.	0.0177716	0.0078	0.0433	0.0067	0.0001	0.0026	0.0052	0.0092	0.0028	0.0070245	1086	154602	rs1050180	2.484e-05	0.0016	2.064e-05	2.915e-05	0.0005	1.588e-05	1.28e-05	0.0002	0.0002	0.0005	0.0001	0	0	0	0	1.125e-05	0	0.0001	3.397e-05	0.0042	3.245e-05	3.565e-05	8.98e-05	5.64e-06	2.11e-06	.	.	8.98e-05	0	0	0	0	0	0	3.028e-05	0	0	0.018	0.50676	D	0.125	0.36101	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	5.82	0.00657	T	-0.4	0.14978	N	0.067	0.04307	-1.0040	0.28755	T	0.001	0.00378	T	9	0.0030311644	0.00050	T	.	.	.	0.120	0.33359	0.407	0.44066	0.0762999501168	0.06990	0.10785664231938592	0.10714	0.459405056151	0.45523	0.250036120415	0.03772	T	0.006007	0.05450	T	-0.585568	0.00178	T	-0.561255	0.16258	T	0.00351274895036235	0.00037	T	0.210379	0.02537	T	.	.	.	.	.	.	.	.	-5.459	0.41483	T	.	.	0.115	0.25850	B	.;.;.	.;.;.	0.455434	0.08254	4.996	0.33681637653518909	0.02019	0.04374	0.09949	N	AEFBHCI	0.092565	0.18738	N	-1.68195883182571	0.00907	0.0392893	-1.81546310783018	0.00711	0.03167287	0.999999606301239	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	-3.63	0.04238	-3.041000	0.00696	.	.	-2.073000	0.00407	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2105:0.0:0.7895	10.581	0.44447	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	0.8333	81957.2	114	chr6	31270056	.	T	C,A	81957.2	.	AC=33,4;AF=0.786,0.095;AN=42;BaseQRankSum=-1.136e+00;DP=2977;ExcessHet=1.1607;FS=0.717;InbreedingCoeff=-0.1351;MLEAC=33,4;MLEAF=0.786,0.095;MQ=59.64;MQRankSum=0.00;QD=28.32;ReadPosRankSum=0.291;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,120,0:120:99:1|1:31270056_T_C:5085,361,0,5085,361,5085:31270056	0	13	5	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I	.	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.005	B	0.002	U	1.000	P	3.3	M	4.31	T	-1.111	T	0.009	T	0.422	-0.903	0.431	2.67	1.821	0.868	9.019	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	0.2381	10478.8	66	chr6	31270250	.	C	A	10478.8	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.683;DP=1987;ExcessHet=1.5138;FS=6.263;InbreedingCoeff=-0.0500;MLEAC=10;MLEAF=0.238;MQ=51.19;MQRankSum=-1.731e+00;QD=13.25;ReadPosRankSum=-1.916e+00;SOR=1.128	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,57:57:99:1|1:31270154_CAGA_C:2565,172,0:31270154	12	1	8	0
chr6	31271153	31271153	A	0	exonic	HLA-C	.	.	.	.	.	0	22	11	0	193	204	0.2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	37138.39	180	chr6	31271153	.	A	C,T,*	37138.39	.	AC=19,1,4;AF=0.452,0.024,0.095;AN=42;BaseQRankSum=3.30;DP=3892;ExcessHet=30.0624;FS=1.107;InbreedingCoeff=-0.7500;MLEAC=19,1,4;MLEAF=0.452,0.024,0.095;MQ=52.03;MQRankSum=-2.061e+00;QD=9.74;ReadPosRankSum=-8.020e-01;SOR=0.601	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:115,75,0,0:190:99:.:.:1947,0,2834,2292,3060,5352,2292,3060,5352,5352	0	0	16	0
chr6	31271295	31271295	G	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C397T:p.L133F	.	.	0	1434	88	0	0	88	0.02977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.998	D	.	.	1.000	N	1.38	L	9.43	T	-0.970	T	0.039	T	0.525	1.795	11.96	-2.84	-0.764	-1.782	3.235	0.011	0.00217142621672	.	.	0.0017	0	0.0010	0	0.0003	0.0020	0.0047	0.0033	3.84e-05	1	26028	rs201232509	4.189e-05	0.0006	3.548e-05	4.826e-05	0.0008	3.193e-05	2.85e-05	0.0005	0.0004	0	0.0008	5.85e-05	0	5.905e-05	0	1.691e-05	0	7.077e-05	1.456e-05	0.0002	0	3.043e-05	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.129	0.26852	T	0.261	0.22962	T	0.999	0.77913	D	0.998	0.88582	D	.	.	.	.	0.999994	0.08975	N	.	.	.	9.43	0.00008	T	-2.12	0.49187	N	0.103	0.09490	-0.9700	0.37200	T	0.039	0.16892	T	9	0.053365707	0.05516	T	0.002171	0.04071	T	0.149	0.39377	.	.	0.15556083564	0.15200	0.05197114042866421	0.05139	1.46494527933	0.86431	0.243654131889	0.03128	T	0.03788	0.24637	T	-0.190747	0.22149	T	-0.511772	0.21132	T	0.0786905586719513	0.09819	T	0.244676	0.09330	T	.	.	.	.	.	.	.	.	-5.97	0.46028	T	.	.	0.142	0.31177	B	.;.;.	.;.;.	1.437331	0.18565	13.80	0.97521242843416844	0.34405	0.01752	0.05517	N	ALL	0.145460	0.26868	N	-0.848663386786969	0.12082	0.5868329	-1.0804277795709	0.08086	0.3960589	0.999999936443293	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.638787	0.57140	0	.	.	2.81	-2.84	0.05408	-3.523000	0.00493	.	.	-0.940000	0.02096	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.4266:0.0:0.2662:0.3072	3.235	0.06360	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	.	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	0.07143	1918.68	124	chr6	31271295	.	G	A	1918.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.18;DP=2573;ExcessHet=0.3300;FS=11.102;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.22;MQRankSum=-5.695e+00;QD=4.14;ReadPosRankSum=0.218;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:142,26:168:99:.:.:632,0,5884	18	0	3	0
chr6	31271337	31271337	G	0	exonic	HLA-C	.	.	.	.	.	86	537	715	64	120	963	0.43975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	17754.15	108	chr6	31271337	.	G	T,*	17754.15	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-1.740e-01;DP=1928;ExcessHet=2.0984;FS=6.544;InbreedingCoeff=-0.0716;MLEAC=13,1;MLEAF=0.310,0.024;MQ=56.58;MQRankSum=-3.890e+00;QD=13.85;ReadPosRankSum=-1.971e+00;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,48,0:147:99:0|1:31271337_G_T:1696,0,4013,1994,4157,6151:31271337	9	2	9	0
chr6	31355317	31355317	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.G895A:p.E299K,	.	.	1	1508	13	0	0	13	0.00429185	0.9995	0.982	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.003	B	0.052	U	0.957	N	2.72	M	2.4	T	-0.957	T	0.124	T	0.58	2.192	13.29	2.28	0.689	1.288	6.408	0.109	0.0122218025182	.	.	0.0002	0.0003	0	0	0	0.0002	0	0.0004	0.0002393	37	154602	rs2308500	1.17e-05	7.253e-05	9.59e-06	1.383e-05	0.0002	7.13e-06	5.83e-06	9.27e-06	4.57e-06	0	0	0	0	0	0.0002	1.085e-05	1.672e-05	3.491e-05	1.738e-05	0.0001	3.341e-05	0	3.426e-05	2.89e-06	1.08e-06	5.68e-06	2.13e-06	0	0	0	0	0	0	0	3.426e-05	0	0	0.011	0.55530	D	0.04	0.50809	D	0.001	0.07471	B	0.003	0.08700	B	0.051841	0.22945	U	0.214071	0.957019	0.26277	N	.	.	.	2.4	0.15608	T	-2.03	0.46673	N	0.276	0.31253	-0.9565	0.39825	T	0.124	0.42862	T	9	0.13269022	0.25254	T	0.012222	0.30597	T	0.203	0.48915	.	.	0.38242337071	0.37855	0.36252558072934316	0.36166	0.248699058187	0.27433	.	.	.	0.02485	0.18695	T	-0.325109	0.06488	T	-0.398796	0.33525	T	0.0325112404537327	0.02390	T	0.739226	0.35772	T	0.5487379	0.69885	0.35058028	0.60665	0.5487379	0.69886	0.35058028	0.60665	-7.555	0.57996	D	.	.	0.106	0.41602	B	.;.;.	.;.;.	3.948253	0.57820	23.9	0.99458550603173124	0.65684	0.43796	0.27177	N	AEFBHCI	0.191715	0.31890	N	0.330483401013941	0.57718	3.940387	0.169612600684755	0.48189	3.038366	0.999997039791642	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	2.28	0.27583	0.782000	0.26449	.	.	-0.313000	0.06017	0.999000	0.42656	0.000000	0.08366	0.038000	0.14061	0.0:0.8596:0.0:0.1404	6.408	0.20877	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	357.33	131	chr6	31355317	.	C	T	357.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.503e+00;DP=2835;ExcessHet=0.0000;FS=7.848;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=57.76;MQRankSum=-9.261e+00;QD=2.32;ReadPosRankSum=-1.479e+00;SOR=0.984	GT:AD:DP:GQ:PL	0/1:122,32:154:99:371,0,3840	19	0	1	1
chr6	31355338	31355338	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A874G:p.K292E,	.	.	1	1059	462	0	0	462	0.17907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.0	B	0.002	B	0.027	N	1.000	N	-1.24	N	2.69	T	-0.949	T	0.003	T	0.362	-0.629	1.213	-1.11	-0.413	-2.426	4.780	0.023	.	.	.	0.1873	0.2102	0.1521	0.2285	0.1750	0.1708	0.2005	0.2469	0.0006531	17	26028	rs41541515	1.925e-05	0.0003	1.916e-05	1.935e-05	6.078e-05	1.335e-05	1.149e-05	1.006e-05	3.76e-06	6.078e-05	0	0.0005	0	0	0	9.027e-06	3.34e-05	2.33e-05	6.22e-05	0.0011	8.537e-05	3.706e-05	7.636e-05	2.881e-05	2.058e-05	1.414e-05	6.92e-06	7.636e-05	0	0	0.0003	0	0.0001	0	5.327e-05	0	0	0.277	0.15665	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.026571	0.25897	N	0.181463	0.999999	0.08975	N	.	.	.	2.69	0.12268	T	1.44	0.00794	N	0.014	0.00160	-0.9487	0.41194	T	0.003	0.00800	T	10	0.0029622018	0.00048	T	.	.	.	0.023	0.04649	.	.	.	.	0.09070377229671633	0.09003	0.307519446834	0.33047	.	.	.	0.030329	0.21526	T	-0.267069	0.12086	T	-0.621403	0.11076	T	0.00635520461095454	0.00071	T	0.121988	0.02209	T	0.23476017	0.46301	0.11296048	0.27259	0.23476017	0.46301	0.11296048	0.27258	2.737	0.00027	T	.	.	0.051	0.01328	B	.;.;.;.	.;.;.;.	-0.115766	0.03549	0.681	0.33208941956949856	0.01966	0.00329	0.01719	N	AEFDBHCI	0.042199	0.06517	N	-1.61921237088875	0.01172	0.05092742	-1.59245928361148	0.01701	0.07728939	0.99999239206602	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-1.11	0.09336	-2.713000	0.00887	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.5345:0.1577:0.3077	4.780	0.12569	934	0.15400	.;Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin-like domain|Immunoglobulin C1-set;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	1204.88	149	chr6	31355338	.	T	C	1204.88	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.984e+00;DP=2987;ExcessHet=1.7912;FS=11.295;InbreedingCoeff=-0.1703;MLEAC=5;MLEAF=0.125;MQ=58.62;MQRankSum=-9.798e+00;QD=1.30;ReadPosRankSum=1.79;SOR=1.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:123,34:157:99:.:.:395,0,3874	14	0	6	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.017	N	0.986	N	-3.21	N	4.34	T	-1.015	T	0.000	T	0.312	0.549	6.971	1.33	0.182	0.951	7.857	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	.	.	.	.	.	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	0.2381	3496.72	194	chr6	31355425	.	T	C	3496.72	.	AC=10;AF=0.238;AN=42;BaseQRankSum=0.611;DP=3822;ExcessHet=6.1002;FS=21.379;InbreedingCoeff=-0.3069;MLEAC=10;MLEAF=0.238;MQ=58.03;MQRankSum=-1.346e+01;QD=1.73;ReadPosRankSum=-2.710e-01;SOR=1.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:154,30:184:99:.:.:527,0,4992	11	0	10	0
chr6	31356181	31356181	T	0	exonic	HLA-B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	57800.2	50	chr6	31356181	.	T	G,*	57800.2	.	AC=38,3;AF=0.905,0.071;AN=42;BaseQRankSum=1.60;DP=1491;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=38,3;MLEAF=0.905,0.071;MQ=50.44;MQRankSum=-8.849e+00;QD=30.79;ReadPosRankSum=-3.020e+00;SOR=0.902	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,36,0:36:99:1|1:31356168_A_C:1613,108,0,1613,108,1613:31356168	0	17	1	0
chr6	31356247	31356247	C	0	exonic	HLA-B	.	.	.	.	.	27	191	3	0	1301	1304	0.00779221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21954.91	76	chr6	31356247	.	C	A,*	21954.91	.	AC=18,9;AF=0.429,0.214;AN=42;BaseQRankSum=5.54;DP=2356;ExcessHet=8.1482;FS=3.246;InbreedingCoeff=-0.3481;MLEAC=18,9;MLEAF=0.429,0.214;MQ=47.98;MQRankSum=-2.470e+00;QD=9.84;ReadPosRankSum=-1.782e+00;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:82,13,0:95:99:.:.:230,0,1830,476,1869,2345	1	0	12	0
chr6	31356389	31356389	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.C397T:p.L133F,	.	.	10	1431	80	1	0	82	0.0278533	.	.	2822865	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.005	B	0.013	B	.	.	1.000	N	1.6	L	9.43	T	-0.969	T	0.001	T	0.569	0.516	6.799	-2.16	-0.411	-0.546	5.008	0.140	.	0.0041	0.00638978	0.0074	0.0006	0.0080	0.0003	0.0012	0.0095	0.0134	0.0078	0.0062548	967	154602	rs41558819	0.0010	0.0030	0.0010	0.0011	0.0076	0.0010	0.0009	0.0048	0.0039	0.0030	0.0019	0.0214	0	0.0002	0.0076	0.0005	0.0021	0.0018	0.0001	0.0027	3.967e-05	0.0002	0.0005	4.008e-05	2.601e-05	9.181e-05	3.756e-05	0	0	0.0005	0.0022	0	0	0	7.945e-05	0	0	0.122	0.54683	T	0.293	0.29945	T	0.005	0.12996	B	0.013	0.16460	B	.	.	.	.	0.999999	0.08975	N	.	.	.	9.43	0.00008	T	-2.31	0.51319	N	0.173	0.18512	-0.9694	0.37324	T	0.001	0.00438	T	9	0.008583397	0.00194	T	.	.	.	0.140	0.37593	.	.	0.0138822411134	0.00435	0.027354080535157824	0.02685	0.241525953006	0.26679	.	.	.	0.024715	0.18622	T	-0.504179	0.00542	T	-0.484671	0.23951	T	0.0032787161966323	0.00035	T	0.359464	0.10645	T	0.25326553	0.48348	0.1667133	0.38500	0.25326553	0.48348	0.1667133	0.38499	-6.628	0.51267	T	.	.	0.112	0.31253	B	.;.;.	.;.;.	0.971080	0.13483	9.992	0.93170873193506787	0.22827	0.01842	0.05707	N	ALL	0.081868	0.16572	N	-1.25342463206928	0.04255	0.1916679	-1.32756566347898	0.04078	0.1915775	0.999999866091929	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	-2.16	0.06684	-0.457000	0.06821	.	.	-1.964000	0.00474	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3627:0.0:0.4948:0.1425	5.008	0.13642	934	0.15400	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	0.07143	832.68	63	chr6	31356389	.	G	A	832.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.83;DP=1405;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=53.39;MQRankSum=-5.224e+00;QD=4.63;ReadPosRankSum=-7.810e-01;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:15,11:26:99:.:.:396,0,597	18	0	3	0
chr6	31356431	31356431	G	0	exonic	HLA-B	.	.	.	.	.	137	311	365	102	607	1176	0.47775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	9973.12	43	chr6	31356431	.	G	T,*	9973.12	.	AC=16,13;AF=0.381,0.310;AN=42;BaseQRankSum=1.15;DP=1007;ExcessHet=1.3217;FS=1.278;InbreedingCoeff=-0.0027;MLEAC=16,13;MLEAF=0.381,0.310;MQ=57.28;MQRankSum=-3.660e-01;QD=10.84;ReadPosRankSum=0.037;SOR=0.834	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,10,0:12:54:0|1:31356399_C_G:406,0,54,412,84,496:31356399	2	3	5	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9762	858.89	101	chr6	31356748	.	CCT	*,C	858.89	.	AC=41,1;AF=0.976,0.024;AN=42;DP=2084;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=41,1;MLEAF=0.976,0.024;MQ=54.46;QD=0.42;SOR=1.514	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,122,0:122:99:1|1:31356739_C_A:5470,367,0,5470,367,5470:31356739	0	20	0	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	29744.11	115	chr6	31356827	.	T	C,*	29744.11	.	AC=12,23;AF=0.286,0.548;AN=42;DP=3294;ExcessHet=2.5830;FS=0.696;InbreedingCoeff=-0.2000;MLEAC=12,23;MLEAF=0.286,0.548;MQ=51.01;QD=9.20;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,186:186:99:1|1:31356809_C_T:8357,8357,8357,560,560,0:31356809	0	5	0	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	5842.28	59	chr6	31412383	.	TG	T,*	5842.28	.	AC=6,7;AF=0.143,0.167;AN=42;BaseQRankSum=-1.010e+00;DP=1486;ExcessHet=1.3217;FS=1.215;InbreedingCoeff=-0.0027;MLEAC=6,7;MLEAF=0.143,0.167;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=-1.114e+00;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,42,0:73:99:.:.:1301,0,1169,1394,1296,2690	10	0	5	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	28073.94	58	chr6	31412384	.	G	GCT,*,GCTGCTGCTGCT	28073.94	.	AC=14,13,5;AF=0.333,0.310,0.119;AN=42;BaseQRankSum=1.31;DP=1521;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=14,13,5;MLEAF=0.333,0.310,0.119;MQ=60.00;MQRankSum=0.00;QD=21.78;ReadPosRankSum=-1.530e-01;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	2/3:0,0,42,31:73:99:.:.:2987,2932,3013,1321,1320,1168,1521,1661,0,1650	2	2	2	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.985	D	0.637	P	0.000	D	0.995	D	1.495	L	4.53	T	-0.837	T	0.008	T	0.68	1.237	10.02	5.06	2.122	3.154	13.917	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9616.67	116	chr6	31625601	.	T	C	9616.67	.	AC=19;AF=0.500;AN=38;BaseQRankSum=-3.022e+00;DP=2814;ExcessHet=36.0830;FS=243.392;InbreedingCoeff=-0.8806;MLEAC=20;MLEAF=0.526;MQ=59.99;MQRankSum=0.00;QD=3.79;ReadPosRankSum=1.23;SOR=12.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,21:132:99:0|1:31625601_T_C:172,0,4045:31625601	0	0	19	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.651	14.83	5.06	2.628	4.365	17.348	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,21,0:132:99:0|1:31625601_T_C:172,0,4045,505,4107,4612:31625601	0	0	18	2
chr6	31625602	31625602	G	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750C:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.817	P	0.292	B	0.000	D	0.999	D	1.295	L	4.62	T	-0.628	T	0.004	T	0.668	2.530	14.42	5.06	2.628	4.365	17.348	0.179	0.0240778972107	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.999345	0.46733	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	0.2299856	0.39939	T	0.024078	0.47063	T	0.179	0.44899	0.192	0.10304	0.187035705434	0.18338	0.40434127179304075	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.0346369	0.46741	T	-0.28753	0.46029	T	0.797656714916229	0.46194	D	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	.;.	.;.	4.164074	0.62562	24.5	0.98851704410504837	0.47305	0.96934	0.71741	D	AEFDBCI	0.644900	0.62099	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12029.36	116	chr6	31625602	.	G	A,C	12029.36	.	AC=18,1;AF=0.474,0.026;AN=38;BaseQRankSum=-3.662e+00;DP=2814;ExcessHet=36.0830;FS=285.280;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.500,0.026;MQ=59.99;MQRankSum=0.00;QD=4.75;ReadPosRankSum=1.13;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,21,0:132:99:0|1:31625601_T_C:172,0,4045,505,4107,4612:31625601	0	0	18	2
chr6	31896934	31896934	G	T	exonic	EHMT2	.	nonsynonymous SNV	EHMT2:NM_001289413:exon1:c.C269A:p.A90D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.95	P	0.525	P	0.002	N	0.978	N	0	N	-0.63	T	-0.964	T	0.102	T	0.195	2.089	12.94	2.88	0.686	2.273	9.369	0.116	0.0568159755937	.	0.00139776	0.0012	0	0	0.0051	0	0	0	0.0069	0.0009508	147	154602	rs529607342	0.0005	0.0005	0.0003	0.0006	0.0058	0.0004	0.0004	0.0054	0.0052	0	0	0	0.0036	0	0.0002	0	0.0005	0.0058	0.0003	0.0003	0.0002	0.0005	0.0052	0.0003	0.0002	0.0036	0.0031	4.823e-05	0	0	0	0.0049	0	0	0	0	0.0052	0.001	0.78490	D	0.149	0.43344	T	0.008	0.53761	B	0.021	0.40142	B	0.002360	0.36727	N	0.000000	0.978385	0.25252	N	0	0.06538	N	-0.66	0.74159	T	-0.32	0.12847	N	0.406	0.46835	-0.9643	0.38350	T	0.102	0.37768	T	10	0.003607422	0.00065	T	0.056816	0.66741	D	0.116	0.32463	0.134	0.03833	0.852139992928	0.85071	0.189770225607828	0.18895	0.800060676162	0.66198	0.588273584843	0.51251	T	0.028095	0.20428	T	-0.426371	0.01560	T	-0.381643	0.35531	T	0.0998477388706951	0.12341	T	.	.	.	0.2517797	0.48189	0.27577627	0.53517	0.2517797	0.48189	0.27577627	0.53516	-3.188	0.12603	T	.	.	0.111	0.28607	B	.;.;.;.	.;.;.;.	2.316680	0.29664	18.19	0.98341003853415176	0.40438	0.80576	0.40177	D	AEFDGBCI	0.183027	0.31035	N	-0.2610453185768	0.30665	1.71195	-0.192846953644545	0.31798	1.802965	0.999998415460278	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.79	2.88	0.32617	0.772000	0.26309	.	.	0.640000	0.52149	0.001000	0.13787	1.000000	0.68203	0.679000	0.33513	0.0:0.2201:0.7799:0.0	9.369	0.37402	917	0.20147	.;.;.;.	.	.	.	.	.	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	0.02381	1034.98	37	chr6	31896934	.	G	T	1034.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.546;DP=902;ExcessHet=0.0000;FS=3.892;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-2.044e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:47,43:90:99:1049,0,1101	20	0	1	0
chr6	31954626	31954631	CGATCC	-	exonic	NELFE	.	nonframeshift deletion	NELFE:NM_002904:exon7:c.666_671del:p.D227_R228del,	.	.	422	1016	78	6	0	90	0.0424128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0084	0.00579073	0.0094	0.0007	0.0115	0.0004	0.0022	0.0123	0.0137	0.0087	0.00146	38	26028	rs202172278	0.0067	0.0067	0.0062	0.0071	0.0436	0.0066	0.0065	0.0392	0.0374	0.0010	0.0126	0.0786	0.0004	0.0018	0.0436	0.0047	0.0122	0.0087	0.0072	0.0071	0.0070	0.0074	0.0151	0.0068	0.0067	0.0134	0.0128	0.0010	0	0.0151	0.0773	0.0006	0.0011	0.0451	0.0069	0.0159	0.0043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	7972.64	42	chr6	31954625	.	TCGATCC	T	7972.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.08;DP=1264;ExcessHet=0.3300;FS=1.122;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-7.130e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:76,71:147:99:2704,0,2955	18	0	3	0
chr6	32072218	32072218	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon13:c.A4762G:p.I1588V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1204139	not_provided|Cardiovascular_phenotype	MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.348	N	0.989	N	-1.825	N	0.48	T	-0.920	T	0.009	T	0.012	-2.295	0.004	2.34	0.179	-0.350	6.692	0.060	0.00222751202496	.	0.000798722	0.0008	0	0	0.0001	0	0	0	0.0057	0.0006468	100	154602	rs569747700	0.0003	0.0003	0.0002	0.0005	0.0054	0.0003	0.0003	0.0050	0.0048	0	0	0	2.519e-05	0	0	9e-07	0.0002	0.0054	0.0001	0.0001	3.856e-05	0.0002	0.0039	9.145e-05	7.701e-05	0.0026	0.0021	4.813e-05	0	0	0	0	0	0	0	0	0.0039	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.347941	0.13861	N	0.587209	1	0.08975	N	.	.	.	0.48	0.55945	T	0.31	0.04022	N	0.046	0.01825	-0.9198	0.45581	T	0.009	0.03359	T	10	0.0042253733	0.00084	T	0.002228	0.04233	T	0.060	0.17295	.	.	0.0675242888579	0.06100	.	.	.	.	0.433141648769	0.29639	T	0.020695	0.16251	T	-0.672657	0.00053	T	-0.738186	0.03967	T	0.01664863108666	0.00424	T	0.0788921	0.00581	T	0.019550757	0.00488	0.028423216	0.01077	0.01468776	0.00103	0.028425818	0.01077	-0.215	0.00434	T	0.12813416587484314	0.13229	0.059	0.00730	B	.;.;.	.;.;.	-0.915824	0.00899	0.033	0.20077987015303106	0.00706	0.00334	0.01740	N	AEFDBI	0.034030	0.04145	N	-1.6735694505846	0.00940	0.04070487	-1.5225632885494	0.02171	0.09945352	0.979593180960986	0.30044	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	5.09	2.34	0.28071	-0.244000	0.08921	.	.	-0.985000	0.01878	0.001000	0.13787	0.000000	0.08366	0.068000	0.16518	0.0:0.6923:0.1444:0.1633	6.692	0.22370	917	0.20147	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2397.98	36	chr6	32072218	.	T	C	2397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=889;ExcessHet=0.0000;FS=1.203;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.62;ReadPosRankSum=0.576;SOR=0.572	GT:AD:DP:GQ:PL	0/1:84,92:176:99:2412,0,2165	20	0	1	0
chr6	32084509	32084509	T	C	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon8:c.A3349G:p.I1117V	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.51	P	0.147	B	0.011	N	1.000	N	0.05	N	0.6	T	-0.940	T	0.022	T	0.141	-0.852	0.544	0.376	-0.076	0.061	7.727	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	.	.	.	.	.	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	0.09524	746.15	34	chr6	32084509	.	T	C	746.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.746e+00;DP=1306;ExcessHet=0.6776;FS=128.029;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.37;ReadPosRankSum=1.75;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,20:123:99:.:.:160,0,3711	17	0	4	0
chr6	32223891	32223893	AGC	-	exonic	NOTCH4	.	nonframeshift deletion	NOTCH4:NM_004557:exon1:c.36_38del:p.L16del,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/4:12,0,0,0,17:29:99:630,666,1153,666,1153,1153,666,1153,1153,1153,0,487,487,487,436	0	1	4	0
chr6	32223893	32223893	-	AGCAGCAGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCTGCTGCT:p.L16_C17insLLL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/4:12,0,0,0,17:29:99:630,666,1153,666,1153,1153,666,1153,1153,1153,0,487,487,487,436	0	1	4	0
chr6	32223893	32223893	-	AGC	exonic	NOTCH4	.	nonframeshift insertion	NOTCH4:NM_004557:exon1:c.35_36insGCT:p.L16_C17insL,	.	.	432	105	159	158	668	1143	0.693431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	22774.05	25	chr6	32223881	.	TAGCAGCAGCAGC	TAGCAGCAGC,T,TAGCAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGC	22774.05	.	AC=10,14,2,6;AF=0.238,0.333,0.048,0.143;AN=42;BaseQRankSum=0.453;DP=1004;ExcessHet=6.1002;FS=1.974;InbreedingCoeff=-0.3125;MLEAC=10,14,2,6;MLEAF=0.238,0.333,0.048,0.143;MQ=60.00;MQRankSum=0.00;QD=28.57;ReadPosRankSum=0.242;SOR=0.872	GT:AD:DP:GQ:PL	0/4:12,0,0,0,17:29:99:630,666,1153,666,1153,1153,666,1153,1153,1153,0,487,487,487,436	0	1	4	0
chr6	32335930	32335930	C	T	exonic	TSBP1	.	nonsynonymous SNV	TSBP1:NM_001286475:exon13:c.G364A:p.G122R	.	.	430	1053	35	4	0	43	0.0200093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	0.994	N	0.805	L	3.41	T	-0.930	T	0.007	T	0.282	1.521	11.04	2.09	0.833	0.891	6.173	0.042	.	0.0023	0.0107827	0.0093	0.0008	0.0190	0.0158	0.0255	0.0041	0.0162	0.0170	0.0088679	1371	154602	rs139993810	0.0064	0.0066	0.0063	0.0066	0.0196	0.0063	0.0063	0.0185	0.0181	0.0012	0.0196	0.0027	0.0138	0.0205	0.0158	0.0038	0.0154	0.0181	0.0067	0.0067	0.0059	0.0076	0.0197	0.0064	0.0062	0.0166	0.0154	0.0013	0.0011	0.0130	0.0032	0.0197	0.0266	0.0034	0.0040	0.0142	0.0145	0.003	0.68238	D	0.019	0.59159	D	.	.	.	.	.	.	.	.	.	.	0.997147	0.23606	N	.	.	.	3.41	0.05574	T	-2.93	0.61284	D	0.252	0.43899	-0.9298	0.44168	T	0.007	0.02282	T	7	0.0052653253	0.00115	T	.	.	.	0.042	0.11227	0.214	0.13354	.	.	0.06775107962844537	0.06713	0.369240680333	0.38451	.	.	.	.	.	.	-0.561488	0.00249	T	-0.564379	0.15969	T	0.0414496540811556	0.03954	T	0.676832	0.28664	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.55549	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.506794	0.70541	25.5	0.99415298787707362	0.63501	0.58008	0.30527	D	AEFI	0.167644	0.29433	N	-0.0615019390084884	0.39091	2.299705	-0.168684592006031	0.32696	1.862731	2.87057104956723E-5	0.03498	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	2.96	2.09	0.26154	0.913000	0.28233	.	.	-0.865000	0.02600	1.000000	0.71638	1.000000	0.68203	0.257000	0.23443	0.0:0.8587:0.0:0.1413	6.173	0.19644	934	0.15400	.;.;.;.;.;.;.	.	.	.	.	rs139993810	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	353.98	37	chr6	32335930	.	C	T	353.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.379e+00;DP=802;ExcessHet=0.0000;FS=2.367;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.56;ReadPosRankSum=1.00;SOR=0.412	GT:AD:DP:GQ:PL	0/1:34,20:54:99:368,0,811	20	0	1	0
chr6	32349791	32349791	G	A	exonic	TSBP1	.	nonsynonymous SNV	TSBP1:NM_006781:exon9:c.C298T:p.L100F,	.	.	431	1053	34	4	0	42	0.0195531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662	P	0.204	B	.	.	1.000	N	0.895	L	3.38	T	-0.913	T	0.004	T	0.418	1.418	10.68	0.709	0.131	0.323	4.106	0.048	.	0.0023	0.0105831	0.0090	0.0008	0.0175	0.0156	0.0253	0.0040	0.0160	0.0169	0.0087127	1347	154602	rs79044345	0.0064	0.0065	0.0063	0.0066	0.0189	0.0063	0.0063	0.0178	0.0174	0.0012	0.0189	0.0027	0.0138	0.0206	0.0155	0.0038	0.0154	0.0183	0.0067	0.0067	0.0058	0.0076	0.0197	0.0063	0.0062	0.0166	0.0154	0.0013	0.0011	0.0130	0.0032	0.0197	0.0263	0.0034	0.0040	0.0142	0.0145	0.051	0.91255	T	0.303	0.20164	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.38	0.05778	T	-0.15	0.10308	N	0.124	0.17278	-0.9131	0.46467	T	0.004	0.01330	T	8	0.0035131574	0.00063	T	.	.	.	0.048	0.13305	.	.	0.0806252709748	0.07271	0.03652289036496629	0.03599	0.868342382755	0.69304	.	.	.	.	.	.	-0.507272	0.00520	T	-0.487157	0.23689	T	0.014561251023395	0.00298	T	0.511449	0.17993	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.38782	B	.;.;.;.	.;.;.;.	0.527122	0.08959	5.740	0.99703285299393041	0.80798	0.04503	0.10125	N	AEFDBI	0.043577	0.06905	N	-0.618116652917595	0.18400	0.9549886	-0.712612391797401	0.16647	0.8816196	8.31050451307236E-5	0.04703	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.65	0.709	0.17307	0.345000	0.19720	.	.	0.674000	0.70861	0.017000	0.19353	0.379000	0.24607	0.625000	0.32026	0.1155:0.0:0.4702:0.4143	4.106	0.09507	934	0.15400	.;.;.;.	.	.	.	.	rs117823268	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	0.02381	1461.98	50	chr6	32349791	.	G	A	1461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=1102;ExcessHet=0.0000;FS=0.664;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.059e+00;SOR=0.781	GT:AD:DP:GQ:PL	0/1:72,55:127:99:1476,0,1772	20	0	1	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	2340.92	49	chr6	32521970	.	G	GCC,*	2340.92	.	AC=2,14;AF=0.048,0.333;AN=42;BaseQRankSum=4.87;DP=2985;ExcessHet=0.3152;FS=19.972;InbreedingCoeff=0.1923;MLEAC=2,14;MLEAF=0.048,0.333;MQ=57.72;MQRankSum=-1.101e+01;QD=1.39;ReadPosRankSum=-6.282e+00;SOR=1.161	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,51,0:223:99:0|1:32521930_A_C:1624,0,7069,2141,7222,9364:32521930	9	0	2	0
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	3841.37	20	chr6	32521978	.	GT	G,*	3841.37	.	AC=4,17;AF=0.100,0.425;AN=40;BaseQRankSum=4.25;DP=2847;ExcessHet=0.7352;FS=10.579;InbreedingCoeff=0.1102;MLEAC=4,18;MLEAF=0.100,0.450;MQ=55.69;MQRankSum=-5.960e+00;QD=2.22;ReadPosRankSum=-4.343e+00;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,55,0:223:99:0|1:32521930_A_C:1799,0,6889,2304,7054,9359:32521930	5	0	4	1
chr6	32521981	32521981	T	0	exonic	HLA-DRB5	.	.	.	.	.	195	584	309	195	239	938	0.374397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	29160.55	20	chr6	32521981	.	T	TGC,C,*	29160.55	.	AC=15,3,4;AF=0.375,0.075,0.100;AN=40;BaseQRankSum=0.770;DP=2811;ExcessHet=1.5433;FS=18.058;InbreedingCoeff=0.0082;MLEAC=16,3,4;MLEAF=0.400,0.075,0.100;MQ=49.06;MQRankSum=-4.980e-01;QD=15.25;ReadPosRankSum=-1.678e+00;SOR=1.050	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:164,0,0,57:221:99:0|1:32521930_A_C:1882,2375,9262,2375,9262,9262,0,6886,6886,6715:32521930	4	5	4	1
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	37739.64	115	chr6	32530184	.	T	G,*,A	37739.64	.	AC=12,22,3;AF=0.286,0.524,0.071;AN=42;BaseQRankSum=-6.320e-01;DP=2340;ExcessHet=1.1607;FS=2.132;InbreedingCoeff=-0.1351;MLEAC=12,23,2;MLEAF=0.286,0.548,0.048;MQ=55.50;MQRankSum=0.00;QD=16.93;ReadPosRankSum=1.02;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	3|3:0,0,8,109:117:3:1|1:32530184_T_*:4771,4790,4872,4457,4550,4565,327,339,3,0:32530184	0	3	1	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	53589.95	112	chr6	32530185	.	T	TGC,*,C	53589.95	.	AC=5,18,14;AF=0.119,0.429,0.333;AN=42;BaseQRankSum=0.157;DP=2296;ExcessHet=1.1607;FS=2.990;InbreedingCoeff=-0.1351;MLEAC=5,18,14;MLEAF=0.119,0.429,0.333;MQ=55.53;MQRankSum=0.00;QD=24.29;ReadPosRankSum=-2.360e-01;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	2|3:0,0,8,109:117:3:0|1:32530184_T_*:4773,4787,4826,4454,4503,4518,330,335,0,3:32530184	0	1	0	0
chr6	32584177	32584178	CG	0	exonic	HLA-DRB1	.	.	.	.	.	55	575	391	86	415	978	0.328663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	39726.1	222	chr6	32584177	.	CG	C,*	39726.1	.	AC=8,13;AF=0.190,0.310;AN=42;BaseQRankSum=2.29;DP=4443;ExcessHet=11.2363;FS=1.783;InbreedingCoeff=-0.4286;MLEAC=8,13;MLEAF=0.190,0.310;MQ=53.58;MQRankSum=-2.856e+00;QD=10.49;ReadPosRankSum=-6.830e-01;SOR=0.558	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:98,0,33:131:99:0|1:32584176_CCG_C:1084,1379,5494,0,4115,4016:32584176	3	0	6	0
chr6	32584178	32584178	G	0	exonic	HLA-DRB1	.	.	.	.	.	53	515	203	35	716	989	0.209517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	19514.62	219	chr6	32584178	.	G	GCT,*	19514.62	.	AC=5,20;AF=0.119,0.476;AN=42;BaseQRankSum=-6.100e-02;DP=4440;ExcessHet=2.4516;FS=0.559;InbreedingCoeff=-0.0871;MLEAC=5,20;MLEAF=0.119,0.476;MQ=50.67;MQRankSum=1.24;QD=5.44;ReadPosRankSum=2.19;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:98,0,33:131:99:0|1:32584176_CCG_C:1084,1379,5494,0,4115,4016:32584176	3	0	1	0
chr6	32584184	32584184	G	0	exonic	HLA-DRB1	.	.	.	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,39,0,0:140:99:0|1:32584176_CCG_C:1327,0,4124,1631,4241,5872,1631,4241,5872,5872:32584176	9	0	5	1
chr6	32584184	32584184	-	TC	exonic	HLA-DRB1	.	frameshift insertion	HLA-DRB1:NM_002124:exon2:c.294_295insGA:p.Q99Dfs*31,	.	.	80	969	165	64	244	537	0.131331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.94e-05	0	0	0	0	0.0001	0	0	0.0016905	44	26028	rs28986201	2.344e-06	2.239e-05	4.721e-06	0	3.106e-06	3.9e-07	1.5e-07	5.2e-07	1.9e-07	0	0	0	0	0	0	3.106e-06	0	0	0	3.383e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275	7031.51	227	chr6	32584184	.	G	GT,*,GTC	7031.51	.	AC=6,5,1;AF=0.150,0.125,0.025;AN=40;BaseQRankSum=3.49;DP=4835;ExcessHet=3.2961;FS=2.645;InbreedingCoeff=-0.1959;MLEAC=6,5,1;MLEAF=0.150,0.125,0.025;MQ=53.60;MQRankSum=-4.261e+00;QD=2.53;ReadPosRankSum=-3.096e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,39,0,0:140:99:0|1:32584176_CCG_C:1327,0,4124,1631,4241,5872,1631,4241,5872,5872:32584176	9	0	5	1
chr6	32584185	32584185	C	0	exonic	HLA-DRB1	.	.	.	.	.	82	1001	166	64	209	503	0.128049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	6470.95	227	chr6	32584185	.	C	CT,*	6470.95	.	AC=6,5;AF=0.150,0.125;AN=40;BaseQRankSum=2.10;DP=4843;ExcessHet=2.2868;FS=2.608;InbreedingCoeff=-0.1376;MLEAC=6,5;MLEAF=0.150,0.125;MQ=53.44;MQRankSum=-6.590e+00;QD=2.58;ReadPosRankSum=-3.178e+00;SOR=0.915	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:103,40,0:143:99:0|1:32584176_CCG_C:1363,0,4205,1673,4325,5998:32584176	10	0	5	1
chr6	32584353	32584353	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-1G>0	.	.	.	.	171	315	497	500	39	1536	0.703808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	182961.39	194	chr6	32584353	.	C	A,*	182961.39	.	AC=26,3;AF=0.650,0.075;AN=40;BaseQRankSum=2.52;DP=6556;ExcessHet=2.5338;FS=2.208;InbreedingCoeff=-0.0889;MLEAC=27,3;MLEAF=0.675,0.075;MQ=54.10;MQRankSum=-6.249e+00;QD=32.11;ReadPosRankSum=2.64;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,190,0:458:99:0|1:32584353_C_A:7171,0,10672,7978,11243,19222:32584353	1	9	7	1
chr6	32584354	32584354	C	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon2:c.101-2G>0	.	.	.	.	175	338	454	378	177	1387	0.641569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5789	154460.88	195	chr6	32584354	.	C	G,A,*	154460.88	.	AC=18,5,1;AF=0.474,0.132,0.026;AN=38;BaseQRankSum=-2.830e-01;DP=6461;ExcessHet=1.8260;FS=3.068;InbreedingCoeff=-0.0814;MLEAC=19,5,1;MLEAF=0.500,0.132,0.026;MQ=53.66;MQRankSum=4.10;QD=29.69;ReadPosRankSum=-9.790e-01;SOR=1.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:268,190,0,0:458:99:0|1:32584353_C_A:7171,0,10671,7978,11243,19221,7978,11243,19221,19221:32584353	2	4	8	2
chr6	32584357	32584357	T	0	exonic	HLA-DRB1	.	.	.	.	.	88	536	775	35	88	933	0.440793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	58783.46	171	chr6	32584357	.	T	G,*	58783.46	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=-3.436e+00;DP=5785;ExcessHet=6.1794;FS=7.618;InbreedingCoeff=-0.3166;MLEAC=12,2;MLEAF=0.300,0.050;MQ=54.27;MQRankSum=1.64;QD=13.90;ReadPosRankSum=-3.470e-01;SOR=1.239	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:341,109,0:450:99:0|1:32584357_T_G:3520,0,13970,4547,14298,18845:32584357	7	0	12	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	77795.68	157	chr6	32584370	.	G	*,A	77795.68	.	AC=12,17;AF=0.316,0.447;AN=38;BaseQRankSum=3.82;DP=5453;ExcessHet=0.1204;FS=4.284;InbreedingCoeff=0.3021;MLEAC=13,18;MLEAF=0.342,0.474;MQ=52.94;MQRankSum=-1.218e+01;QD=17.06;ReadPosRankSum=-1.291e+00;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,94,64:411:99:0|1:32584366_C_T:3311,0,10303,1260,7898,11653:32584366	2	0	3	2
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12898.36	213	chr6	32641444	.	G	C,*	12898.36	.	AC=10,14;AF=0.238,0.333;AN=42;BaseQRankSum=3.77;DP=4027;ExcessHet=1.2156;FS=8.630;InbreedingCoeff=0.0278;MLEAC=10,14;MLEAF=0.238,0.333;MQ=56.94;MQRankSum=-9.014e+00;QD=4.08;ReadPosRankSum=-2.282e+00;SOR=0.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:184,0,70:254:99:0|1:32641430_C_T:2385,2939,10665,0,7726,7515:32641430	4	2	3	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12919.36	215	chr6	32641445	.	A	*,T	12919.36	.	AC=14,10;AF=0.333,0.238;AN=42;BaseQRankSum=3.40;DP=4033;ExcessHet=1.2156;FS=8.537;InbreedingCoeff=0.0278;MLEAC=14,10;MLEAF=0.333,0.238;MQ=56.99;MQRankSum=-8.973e+00;QD=4.08;ReadPosRankSum=-2.307e+00;SOR=0.861	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:184,70,0:254:99:0|1:32641430_C_T:2385,0,7515,2939,7726,10665:32641430	4	2	7	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10387.93	236	chr6	32641462	.	G	A,*	10387.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=5.43;DP=4198;ExcessHet=1.2156;FS=3.431;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.72;MQRankSum=-9.839e+00;QD=3.14;ReadPosRankSum=-1.129e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:197,0,71:268:99:0|1:32641430_C_T:2382,2975,11170,0,8195,7981:32641430	4	1	3	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	10409.93	237	chr6	32641464	.	T	A,*	10409.93	.	AC=8,16;AF=0.190,0.381;AN=42;BaseQRankSum=3.55;DP=4202;ExcessHet=1.2156;FS=3.398;InbreedingCoeff=0.0278;MLEAC=8,16;MLEAF=0.190,0.381;MQ=57.80;MQRankSum=-9.745e+00;QD=3.15;ReadPosRankSum=-9.480e-01;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:197,0,71:268:99:0|1:32641430_C_T:2382,2975,11170,0,8195,7981:32641430	4	1	3	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25415.33	297	chr6	32641501	.	G	C,*,A	25415.33	.	AC=10,13,1;AF=0.238,0.310,0.024;AN=42;BaseQRankSum=2.16;DP=4612;ExcessHet=1.2156;FS=0.551;InbreedingCoeff=0.0278;MLEAC=10,13,1;MLEAF=0.238,0.310,0.024;MQ=58.81;MQRankSum=-6.452e+00;QD=6.79;ReadPosRankSum=1.25;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:229,0,59,0:288:99:0|1:32641476_G_A:1788,2477,12093,0,9616,9438,2477,12093,9616,12093:32641476	4	2	3	0
chr6	32641522	32641522	A	G	exonic	HLA-DQA1	.	nonsynonymous SNV	HLA-DQA1:NM_002122:exon2:c.A295G:p.M99V,	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.002	B	0.417	U	1.000	N	0.695	N	5.87	T	-0.920	T	0.000	T	0.292	-0.760	0.789	-7.95	-6.444	-13.284	0.888	0.044	.	.	.	0.0057	0.0025	0.0088	0.0053	0.0084	0.0066	0.0016	0.0024	0.0058783	153	26028	rs1064944	4.039e-05	0.0068	3.94e-05	4.138e-05	0.0002	2.98e-05	2.601e-05	9.923e-05	6.79e-05	0	5.25e-05	0.0002	0.0002	0	0	3.331e-05	0.0001	0	0	0.0073	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.116	0.29688	T	0.158	0.31629	T	.	.	.	.	.	.	0.417235	0.04626	U	1.376450	1	0.08975	N	.	.	.	5.87	0.00635	T	-1.45	0.35792	N	0.057	0.05670	-0.9197	0.45594	T	0.000	0.00152	T	10	0.004614234	0.00096	T	.	.	.	0.044	0.11924	.	.	.	.	0.34569313513656585	0.34483	0.852731849783	0.68618	0.289853215218	0.08902	T	0.017806	0.14461	T	-0.715283	0.00030	T	-0.656411	0.08510	T	0.0132995924044953	0.00238	T	0.206079	0.02437	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25753	B	.;.;.;.	.;.;.;.	-4.065667	0.00001	0.001	0.34440312666605133	0.02107	0.00388	0.01954	N	AEFGBHCI	0.200916	0.32762	N	-2.37503005817049	0.00031	0.001328335	-2.55582823607075	0.00017	0.0007554368	1.0	0.98316	0.627647	0.40530	0	0.672317	0.65289	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.97	-7.95	0.01015	-12.340000	0.00003	.	.	-5.452000	0.00010	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3982:0.2011:0.1237:0.2771	0.888	0.01170	940	0.13648	MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal;MHC class II, alpha chain, N-terminal|MHC class II, alpha chain, N-terminal	.	.	.	.	rs1064944	Likely benign	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	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:232,0,0,62:294:99:0|1:32641476_G_A:1680,2378,12120,2378,12120,12120,0,9742,9742,9555:32641476	4	0	1	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	28752.87	324	chr6	32641522	.	A	C,G,*	28752.87	.	AC=3,8,13;AF=0.071,0.190,0.310;AN=42;BaseQRankSum=-1.647e+00;DP=4904;ExcessHet=1.2156;FS=1.149;InbreedingCoeff=0.0278;MLEAC=3,8,13;MLEAF=0.071,0.190,0.310;MQ=58.97;MQRankSum=-5.772e+00;QD=7.21;ReadPosRankSum=1.57;SOR=0.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:232,0,0,62:294:99:0|1:32641476_G_A:1680,2378,12120,2378,12120,12120,0,9742,9742,9555:32641476	4	0	1	0
chr6	32664917	32664917	C	A	exonic	HLA-DQB1	.	nonsynonymous SNV	HLA-DQB1:NM_001243961:exon2:c.G260T:p.R87L	.	.	41	553	66	57	805	985	0.139969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.022	B	0.025	B	0.941	U	0.979	N	-0.55	N	7.87	T	-1.065	T	0.000	T	0.194	0.074	4.399	0.193	-0.489	0.016	5.435	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	0.4762	85390.2	233	chr6	32664917	.	C	G,A	85390.2	.	AC=14,9;AF=0.333,0.214;AN=42;BaseQRankSum=0.684;DP=5279;ExcessHet=0.5442;FS=0.000;InbreedingCoeff=0.1350;MLEAC=14,9;MLEAF=0.333,0.214;MQ=59.41;MQRankSum=-1.614e+00;QD=23.27;ReadPosRankSum=-2.039e+00;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,150,0:293:99:0|1:32664917_C_G:5797,0,5553,6228,6005,12232:32664917	5	3	5	0
chr6	32666525	32666525	A	0	exonic	HLA-DQB1	.	.	.	.	.	0	4	73	139	10	361	0.977716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	55654.92	97	chr6	32666525	.	A	*,G	55654.92	.	AC=9,30;AF=0.214,0.714;AN=42;BaseQRankSum=-1.394e+00;DP=1812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.6410;MLEAC=9,30;MLEAF=0.214,0.714;MQ=60.00;MQRankSum=0.00;QD=31.69;ReadPosRankSum=-4.920e-01;SOR=0.732	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,108:108:99:.:.:4840,4840,4840,325,325,0	1	1	0	0
chr6	33196472	33196472	C	T	exonic	RXRB	.	nonsynonymous SNV	RXRB:NM_001291989:exon4:c.G385A:p.V129I	.	.	414	1097	11	0	0	11	0.00498866	.	.	2693339	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.3	T	0.136	B	0.029	B	0.407	N	0.743	D	0.55	N	-0.45	T	-0.648	T	0.356	T	0.101	1.989	12.61	4.03	1.286	0.609	6.722	0.107	0.0136837423552	.	0.000199681	0.0002	0	0.0003	0	0	0.0003	0	0.0003	0.0001682	26	154602	rs201059237	0.0001	0.0001	0.0001	0.0001	0.0031	0.0001	0.0001	0.0020	0.0017	0	0.0006	0	2.519e-05	0	0.0031	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0007	0.0005	9.623e-05	0	0.0010	0	0	9.411e-05	0	0.0001	0	0.0002	0.384	0.11050	T	0.547	0.09522	T	0.059	0.23051	B	0.004	0.10090	B	0.407263	0.13044	N	0.738124	0.743221	0.33846	D	0.275	0.09989	N	-0.45	0.69896	T	-0.34	0.12661	N	0.087	0.06454	-0.6483	0.62788	T	0.356	0.71881	T	10	0.023199797	0.00600	T	0.013684	0.33266	T	0.107	0.30369	.	.	0.375737878683	0.37188	0.06156134391304991	0.06096	0.829311628033	0.67554	0.359082013369	0.19251	T	0.31551	0.68711	T	-0.423917	0.01615	T	-0.49267	0.23112	T	0.0132337005695554	0.00235	T	.	.	.	0.026787026	0.01782	0.0640791	0.12789	0.026787026	0.01782	0.0640791	0.12788	-5.546	0.42434	T	.	.	0.075	0.05668	B	.;.	.;.	2.204808	0.28123	17.69	0.98556971412200456	0.42922	0.95998	0.67072	D	AEFBI	0.298442	0.40776	N	-0.326501520660418	0.28144	1.549971	-0.150317486408982	0.33397	1.910	0.999512270289824	0.40117	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.9	4.03	0.46115	0.537000	0.22854	1.031000	0.23480	0.589000	0.31548	0.682000	0.28457	1.000000	0.68203	0.996000	0.76049	0.0:0.7251:0.1799:0.095	6.722	0.22525	814	0.42100	Nuclear hormone receptor, ligand-binding domain;Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	671.98	37	chr6	33196472	.	C	T	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.208;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.62;ReadPosRankSum=-1.097e+00;SOR=0.613	GT:AD:DP:GQ:PL	0/1:46,32:78:99:686,0,1048	20	0	1	0
chr6	33320019	33320019	G	C	exonic	DAXX	.	nonsynonymous SNV	DAXX:NM_001254717:exon4:c.C1232G:p.A411G	.	.	391	1087	42	2	0	46	0.0207207	.	.	721989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.033	B	0.036	B	0.016	N	1.000	N	0	N	3.55	T	-0.911	T	0.003	T	0.08	0.397	6.154	-1.84	-0.398	0.288	6.405	0.007	.	0.0068	0.00858626	0.0093	0.0017	0.0040	0.0069	0.0020	0.0096	0.0113	0.0208	0.0014553	225	154602	rs146304558	0.0086	0.0086	0.0082	0.0091	0.0195	0.0085	0.0085	0.0187	0.0184	0.0015	0.0041	0.0211	0.0028	0.0015	0.0147	0.0085	0.0079	0.0195	0.0061	0.0061	0.0065	0.0056	0.0195	0.0057	0.0056	0.0163	0.0151	0.0014	0	0.0045	0.0193	0.0035	0.0020	0.0102	0.0085	0.0066	0.0195	0.119	0.28520	T	0.26	0.25061	T	0.033	0.20350	B	0.036	0.22909	B	0.016189	0.01435	N	2.621750	1	0.08975	N	0.69	0.16971	N	3.55	0.04746	T	-0.06	0.07882	N	0.184	0.20793	-0.9107	0.46768	T	0.003	0.00864	T	10	0.0019952655	0.00028	T	.	.	.	0.007	0.00512	.	.	0.248133497653	0.24425	0.027666118405061925	0.02716	0.121482305257	0.13691	0.293815732002	0.09482	T	0.228165	0.59364	T	-0.661	0.00062	T	-0.706662	0.05469	T	0.000391966671527189	0.00003	T	.	.	.	0.034339648	0.03834	0.07082536	0.15094	0.05050827	0.09134	0.07082536	0.15093	-3.71	0.20969	T	.	.	0.082	0.13737	B	.;.;.;.	.;.;.;.	1.618229	0.20675	14.86	0.62516084524372117	0.06983	0.23889	0.22220	N	AEFGBHCI	0.064341	0.12488	N	-1.30553392466674	0.03611	0.1616189	-1.30836099513516	0.04321	0.203565	0.999932882190131	0.46732	0.722319	0.85440	0	0.672317	0.65289	0	0.698795	0.65105	0	0.635259	0.50027	0	.	.	4.03	-1.84	0.07387	0.387000	0.20445	0.426000	0.18273	0.650000	0.52971	0.271000	0.25055	0.184000	0.23444	0.944000	0.48669	0.1501:0.0:0.4955:0.3544	6.405	0.20865	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	0.07143	2863.68	38	chr6	33320019	.	G	C	2863.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.230e-01;DP=978;ExcessHet=0.3300;FS=4.934;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-1.085e+00;SOR=0.750	GT:AD:DP:GQ:PL	0/1:35,32:67:99:793,0,958	18	0	3	0
chr6	33404029	33404029	G	A	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon6:c.G656A:p.R219Q,	.	.	412	1067	42	1	0	44	0.020202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.013	B	0.002	B	0.587	N	1.000	N	0.69	N	-1.33	T	-1.034	T	0.099	T	0.056	-0.001	4.009	0.297	0.173	-0.349	3.114	0.108	.	0.0066	0.00898562	0.0089	0.0020	0.0035	0.0065	0.0018	0.0093	0.0088	0.0199	0.0084928	1313	154602	rs61736175	0.0085	0.0085	0.0080	0.0090	0.0182	0.0083	0.0083	0.0174	0.0171	0.0017	0.0039	0.0223	0.0027	0.0014	0.0135	0.0083	0.0078	0.0182	0.0061	0.0061	0.0065	0.0056	0.0184	0.0057	0.0056	0.0153	0.0142	0.0016	0	0.0041	0.0199	0.0035	0.0020	0.0136	0.0085	0.0066	0.0184	0.62	0.05309	T	0.58	0.08505	T	0.013	0.16609	B	0.002	0.06944	B	0.587486	0.11082	N	0.821323	1	0.08975	N	1.32	0.33002	L	-1.33	0.79854	T	0.75	0.02007	N	0.086	0.06322	-1.0342	0.19109	T	0.099	0.36983	T	10	0.0032759309	0.00056	T	.	.	.	0.108	0.30607	.	.	0.758637590366	0.75644	0.18763110196947	0.18681	0.447445100316	0.44600	0.210918799043	0.00851	T	0.014264	0.12177	T	-0.541748	0.00327	T	-0.536024	0.18690	T	0.000301284946156845	0.00002	T	.	.	.	0.0146959955	0.00104	0.028547987	0.01101	0.0146959955	0.00104	0.028547987	0.01101	-4.48	0.30626	T	.	.	0.064	0.01622	B	.	.	0.249347	0.06286	2.745	0.89166591148968233	0.18567	0.08586	0.14495	N	AEFBCI	0.078759	0.15897	N	-1.02043871544408	0.08180	0.3826558	-1.00375510592156	0.09703	0.4842453	0.992500774861752	0.32863	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.17	0.297	0.15011	-0.310000	0.08175	-0.120000	0.11732	-0.123000	0.13640	0.002000	0.15269	0.000000	0.08366	0.040000	0.14268	0.3968:0.0:0.4018:0.2014	3.114	0.05984	369	0.84396	.	.	.	.	.	.	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	4803.68	34	chr6	33404029	.	G	A	4803.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.62;DP=1025;ExcessHet=0.3300;FS=1.735;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=-3.650e-01;SOR=0.788	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1581,0,1540	18	0	3	0
chr6	43132024	43132024	A	G	exonic	PTK7	.	nonsynonymous SNV	PTK7:NM_001270398:exon6:c.A845G:p.H282R	.	.	409	1110	3	0	0	3	0.00134953	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.08	B	0.038	B	0.001	N	1.000	D	0.485	N	4.76	T	-1.066	T	0.063	T	0.393	-0.838	0.578	5.51	2.095	0.585	9.592	0.145	.	0.0003	0.00219649	0.0011	0	8.655e-05	0	0	0.0003	0.0011	0.0064	0.0009444	146	154602	rs141004962	0.0006	0.0006	0.0005	0.0008	0.0057	0.0006	0.0006	0.0053	0.0052	8.962e-05	0.0001	0.0004	0	0	0.0003	0.0004	0.0006	0.0057	0.0004	0.0004	0.0003	0.0004	0.0063	0.0003	0.0003	0.0045	0.0039	9.681e-05	0	0.0001	0	0	0	0	0.0003	0.0005	0.0063	0.387	0.23905	T	0.098	0.42261	T	0.056	0.24543	B	0.038	0.23361	B	0.001442	0.38980	N	0.249802	0.814441	0.36202	D	1.48	0.37141	L	-0.22	0.66474	T	-1.31	0.46146	N	0.278	0.36359	-1.0656	0.10409	T	0.063	0.26314	T	10	0.003968686	0.00076	T	.	.	.	0.145	0.38592	.	.	0.629363468064	0.62633	0.43543742437808564	0.43460	0.443937874564	0.44312	0.50146061182	0.39031	T	0.104826	0.41474	T	-0.372551	0.03467	T	-0.305863	0.44102	T	0.0241534323533302	0.01164	T	0.792521	0.44736	T	0.06616283	0.14211	0.065905206	0.13424	0.06616283	0.14210	0.065905206	0.13424	-4.004	0.24861	T	.	.	0.203	0.42791	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.599094	0.33735	19.43	0.23221897161228403	0.00971	0.20304	0.20991	N	AEFBI	0.112838	0.22288	N	-0.627320000577219	0.18127	0.9386096	-0.460033919892231	0.23265	1.267821	0.99975274214381	0.42595	0.732398	0.92422	0	0.610034	0.51514	0	0.702456	0.68683	0	0.727631	0.95156	0	.	.	5.51	5.51	0.81769	0.586000	0.23596	11.209000	0.89330	0.686000	0.82685	0.000000	0.06391	1.000000	0.68203	0.962000	0.52141	0.7384:0.0:0.0:0.2616	9.592	0.38719	261	0.89765	Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;.;.;.;Immunoglobulin-like domain|Immunoglobulin subtype 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	0.02381	690.98	33	chr6	43132024	.	A	G	690.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.800e-02;DP=768;ExcessHet=0.0000;FS=0.979;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-9.790e-01;SOR=0.488	GT:AD:DP:GQ:PL	0/1:32,30:62:99:705,0,797	20	0	1	0
chr6	43501620	43501620	G	A	exonic	TJAP1	.	nonsynonymous SNV	TJAP1:NM_001146017:exon5:c.G223A:p.D75N	.	.	430	1072	17	3	0	23	0.0106138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.986	D	0.84	P	0.002	N	0.923	D	1.7	L	-1.21	T	-0.801	T	0.194	T	0.066	4.953	28.8	4.85	2.256	5.814	16.225	0.157	.	0.0060	0.00299521	0.0064	0.0015	0.0058	0	0.0112	0.0080	0.0101	0.0050	0.0061772	955	154602	rs146174516	0.0065	0.0065	0.0064	0.0066	0.0093	0.0064	0.0063	0.0073	0.0066	0.0013	0.0053	0.0157	2.52e-05	0.0099	0.0093	0.0066	0.0069	0.0056	0.0058	0.0058	0.0057	0.0059	0.0080	0.0054	0.0053	0.0075	0.0072	0.0013	0	0.0051	0.0150	0	0.0107	0.0068	0.0080	0.0043	0.0048	0.079	0.51853	T	0.539	0.11041	T	0.986	0.61523	D	0.84	0.60170	P	0.001836	0.37892	N	0.260277	0.922746	0.36726	D	1.355	0.33814	L	-1.21	0.78645	T	-0.07	0.11913	N	0.649	0.67304	-0.8013	0.55068	T	0.194	0.54681	T	10	0.0064109266	0.00145	T	.	.	.	0.283	0.60100	.	.	0.84447348625	0.84298	0.14216253384610422	0.14139	0.563213150992	0.52764	0.744480013847	0.73632	T	0.045408	0.27114	T	-0.437271	0.01342	T	-0.393637	0.34127	T	0.0270910500318395	0.01557	T	0.929107	0.73907	D	0.10933551	0.25849	0.09088635	0.21339	0.10933551	0.25849	0.09088635	0.21339	-9.229	0.71145	D	.	.	0.265	0.55916	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.879583	0.80008	27.2	0.998856845130766	0.96126	0.99095	0.91152	D	AEFDBI	0.695007	0.65382	D	0.331883087932109	0.57792	3.948008	0.39220626317631	0.61083	4.303665	0.999999087670254	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	5.603000	0.67304	7.361000	0.58346	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.225	0.82105	227	0.91186	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1274.98	33	chr6	43501620	.	G	A	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.06;DP=826;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=1.21;SOR=0.702	GT:AD:DP:GQ:PL	0/1:67,53:120:99:1289,0,1742	20	0	1	0
chr6	73730508	73730508	G	C	exonic	CD109	.	nonsynonymous SNV	CD109:NM_001159587:exon4:c.G441C:p.K147N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.974	D	0.000	D	1.000	D	0.99	L	-0.81	T	-0.669	T	0.262	T	0.32	1.950	12.48	1.32	0.480	1.572	7.443	0.379	0.0681648577634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.084	0.41239	T	0.86	0.47373	P	0.561	0.49582	P	0.000063	0.52346	D	0.121974	0.927278	0.81001	D	1.685	0.43254	L	-0.81	0.73949	T	-2.44	0.53420	N	0.728	0.72925	-0.6692	0.61865	T	0.262	0.63350	T	10	0.7706835	0.77057	D	0.068165	0.70373	D	0.379	0.69696	0.605	0.73706	0.523082183605	0.51953	0.6049376649993708	0.60424	0.201168129084	0.22514	0.572387576103	0.49016	T	0.021601	0.16792	T	-0.0225458	0.48490	T	-0.270162	0.47803	T	0.874607993844681	0.52447	D	0.816118	0.47137	T	0.098481365	0.23229	0.10561609	0.25393	0.098481365	0.23229	0.10561609	0.25393	-5.553	0.42361	T	.	.	0.362	0.57355	A	.;.	.;.	3.296886	0.45244	22.1	0.99709601027882977	0.81213	0.80641	0.40226	D	AEFBI	0.267169	0.38393	N	-0.137678238521975	0.35760	2.058186	-0.153565321349564	0.33271	1.901473	0.696490180756331	0.22647	0.706548	0.73137	0	0.633656	0.55848	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.27	1.32	0.20897	1.740000	0.37852	3.183000	0.36666	-0.887000	0.02411	1.000000	0.71638	1.000000	0.68203	0.833000	0.39279	0.3949:0.0:0.6051:0.0	7.443	0.26364	886	0.28090	.;Alpha-2-macroglobulin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07692	68.99	34	chr6	73730508	.	G	C	68.99	.	AC=2;AF=0.077;AN=26;BaseQRankSum=-4.009e+00;DP=2245;ExcessHet=0.1072;FS=298.658;InbreedingCoeff=-0.1730;MLEAC=2;MLEAF=0.077;MQ=60.00;MQRankSum=0.00;QD=0.23;ReadPosRankSum=1.42;SOR=8.932	GT:AD:DP:GQ:PL	0/1:106,41:153:71:71,0,1937	11	0	2	8
chr6	80014544	80014544	C	G	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon10:c.C1066G:p.L356V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.949	P	0.585	P	0.000	D	0.986	D	1.995	M	-0.34	T	-0.892	T	0.159	T	0.082	1.670	11.54	1.45	0.035	0.028	2.082	0.170	0.0316673559251	0.0027	0.00299521	0.0007	0.0075	0.0003	0	0	1.504e-05	0.0011	0	0.0006339	98	154602	rs61735783	0.0003	0.0003	0.0003	0.0002	0.0089	0.0002	0.0002	0.0080	0.0077	0.0089	0.0007	0	0	0	0.0005	4.513e-06	0.0006	2.376e-05	0.0028	0.0028	0.0029	0.0028	0.0092	0.0026	0.0025	0.0084	0.0081	0.0092	0	0.0032	0	0	0	0	1.471e-05	0.0009	0	0.0	0.91255	D	0.329	0.18617	T	0.791	0.44643	P	0.376	0.43735	B	0.000009	0.62929	D	0.066244	0.986277	0.40407	D	2.455	0.71248	M	-0.34	0.70480	T	-0.95	0.25332	N	0.072	0.04547	-0.8919	0.48767	T	0.159	0.49346	T	10	0.005755782	0.00128	T	0.031667	0.53693	D	0.170	0.43303	.	.	0.571207575158	0.56786	0.10345787094904708	0.10275	0.149381744314	0.16845	0.41642588377	0.27346	T	0.068207	0.33398	T	-0.459823	0.00986	T	-0.423885	0.30630	T	0.0791437923225428	0.09876	T	0.633437	0.24778	T	0.2455048	0.47509	0.14905643	0.35210	0.18136306	0.39302	0.1432443	0.34048	-3.743	0.19955	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	0.847263	0.12193	8.739	0.99495940509810721	0.67744	0.12829	0.17504	N	AEFGBI	0.081473	0.16486	N	-0.244259316225325	0.31333	1.755862	-0.347358032594679	0.26591	1.469755	0.937995529011829	0.27323	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.29	1.45	0.21708	0.113000	0.15333	-0.692000	0.07835	0.549000	0.26987	0.060000	0.21767	0.000000	0.08366	0.858000	0.40661	0.1589:0.5089:0.154:0.1782	2.082	0.03416	822	0.40702	.;.;.	.	.	.	.	.	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	0.02381	943.98	48	chr6	80014544	.	C	G	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=914;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.16;ReadPosRankSum=0.947;SOR=0.620	GT:AD:DP:GQ:PL	0/1:19,36:55:99:958,0,424	20	0	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGG:p.G45_G46insDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,26,0,0:26:74:1135,74,0,1139,78,1144,1139,78,1144,1144	3	8	1	0
chr6	81752025	81752025	-	CCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	exonic	TENT5A	.	nonframeshift insertion	TENT5A:NM_017633:exon2:c.116_117insCGGCGACTTCGGCGGCGGCGACTTCGGCGG:p.G45_G46insDFGGGDFGGG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	25831.7	45	chr6	81752010	.	ACCGCCGAAGTCGCCG	ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCG,A,ACCGCCGAAGTCGCCGCCGCCGAAGTCGCCGCCGCCGAAGTCGCCG	25831.7	.	AC=22,7,4;AF=0.524,0.167,0.095;AN=42;BaseQRankSum=0.050;DP=1691;ExcessHet=0.0020;FS=1.111;InbreedingCoeff=0.5758;MLEAC=22,7,4;MLEAF=0.524,0.167,0.095;MQ=59.99;MQRankSum=0.00;QD=28.92;ReadPosRankSum=-7.030e-01;SOR=0.456	GT:AD:DP:GQ:PL	1/1:0,26,0,0:26:74:1135,74,0,1139,78,1144,1139,78,1144,1144	3	8	1	0
chr6	87259603	87259603	T	C	exonic	ZNF292	.	nonsynonymous SNV	ZNF292:NM_015021:exon8:c.T5974C:p.S1992P	.	.	441	1075	6	0	0	6	0.00278293	.	.	2353301	not_provided|Inborn_genetic_diseases|ZNF292-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.0	B	0.030	N	1.000	N	1.59	L	3.17	T	-0.982	T	0.008	T	0.197	0.358	5.943	3.41	0.448	1.652	6.187	0.018	0.00423419327487	0.0006	0.000399361	0.0010	0.0003	0.0007	0	0	0.0017	0.0028	0.0006	0.0006727	104	154602	rs200457425	0.0008	0.0008	0.0007	0.0008	0.0030	0.0007	0.0007	0.0019	0.0016	0.0002	0.0005	0.0003	2.619e-05	5.841e-05	0.0030	0.0008	0.0007	0.0008	0.0006	0.0006	0.0006	0.0007	0.0017	0.0005	0.0005	0.0012	0.0010	0.0001	0	0.0017	0.0003	0.0002	0	0.0102	0.0008	0	0.0008	0.119	0.28026	T	0.383	0.15842	T	0.0	0.02946	B	0.0	0.01387	B	0.029825	0.25397	N	0.453783	0.562	0.31252	N	1.11	0.28643	L	3.16	0.07711	T	-0.92	0.24676	N	0.259	0.29313	-0.9824	0.34445	T	0.008	0.02842	T	10	0.011310637	0.00248	T	0.004234	0.10216	T	0.018	0.03083	.	.	0.082315109003	0.07666	0.39461395011850386	0.39376	.	.	0.54963850975	0.45807	T	0.070292	0.33924	T	-0.544129	0.00316	T	-0.594914	0.13242	T	0.00605675292165428	0.00067	T	0.70163	0.31127	T	0.13809104	0.31950	0.17837611	0.40502	0.13809104	0.31950	0.17837611	0.40501	-4.094	0.25201	T	0.12861787096259045	0.13341	0.086	0.10739	B	.;.	.;.	2.166663	0.27606	17.52	0.92947864279519066	0.22519	0.66355	0.33049	D	AEFBCI	0.335555	0.43396	N	-0.231013196190268	0.31868	1.79127	-0.0854678571923201	0.35990	2.088881	0.249082450327898	0.18660	0.722319	0.85440	0	0.698795	0.70079	0	0.696353	0.63694	0	0.683762	0.67416	0	.	.	5.87	3.41	0.38145	0.741000	0.25870	1.882000	0.29459	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.1203:0.1317:0.0:0.748	6.187	0.19718	824	0.40336	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1023.98	34	chr6	87259603	.	T	C	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.418;DP=1367;ExcessHet=0.0000;FS=1.843;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.93;SOR=0.755	GT:AD:DP:GQ:PL	0/1:43,37:80:99:1038,0,1191	20	0	1	0
chr6	99445817	99445817	T	C	exonic	USP45	.	nonsynonymous SNV	USP45:NM_001346024:exon12:c.A1781G:p.Q594R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.012	B	0.01	B	0.162	N	1.000	D	1.115	L	3.66	T	-0.932	T	0.009	T	0.102	-0.648	1.146	-2.92	-0.766	0.867	1.878	0.028	.	0.0020	0.00459265	0.0012	0.0055	0.0008	0.0029	0	0.0001	0	0.0031	0.0011772	182	154602	rs112671344	0.0007	0.0007	0.0007	0.0007	0.0099	0.0007	0.0007	0.0091	0.0088	0.0069	0.0008	0	0.0099	0	0.0017	9.646e-05	0.0018	0.0019	0.0021	0.0021	0.0020	0.0021	0.0059	0.0019	0.0018	0.0053	0.0051	0.0059	0	0.0012	0	0.0058	0	0	0.0002	0.0005	0.0017	0.849	0.02746	T	0.611	0.10034	T	0.004	0.12183	B	0.01	0.14941	B	0.162229	0.17628	N	0.607193	0.999821	0.49512	D	1.54	0.38927	L	3.66	0.04309	T	-0.7	0.20358	N	0.059	0.05670	-0.9322	0.43814	T	0.009	0.03011	T	10	0.0043433905	0.00088	T	.	.	.	0.028	0.06331	.	.	0.17948927462	0.17512	0.23245759561098403	0.23160	0.101957349095	0.11540	0.268547296524	0.05953	T	0.002366	0.01759	T	-0.627757	0.00099	T	-0.672864	0.07425	T	0.00346565276828435	0.00037	T	0.529047	0.17505	T	0.040246118	0.05709	0.037716255	0.03484	0.045715254	0.07531	0.03495696	0.02658	-5.438	0.41284	T	.	.	0.065	0.02797	B	.;.;.	.;.;.	0.823581	0.11949	8.509	0.40814496646116244	0.02904	0.77401	0.38052	D	AEFBI	0.190712	0.31793	N	-0.981523845359578	0.08998	0.4241044	-0.971455043555611	0.10429	0.525236	0.00744911828012615	0.11467	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.83	-2.92	0.05277	1.429000	0.34511	-0.914000	0.06944	0.665000	0.62972	0.998000	0.41325	0.000000	0.08366	0.862000	0.40904	0.1076:0.1825:0.2238:0.4862	1.878	0.03026	652	0.62785	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain;Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	374.98	33	chr6	99445817	.	T	C	374.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.668e+00;DP=701;ExcessHet=0.0000;FS=3.436;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=1.10;SOR=0.269	GT:AD:DP:GQ:PL	0/1:18,14:32:99:389,0,549	20	0	1	0
chr6	104784991	104784991	G	A	exonic	HACE1	.	nonsynonymous SNV	HACE1:NM_001350555:exon9:c.C1112T:p.P371L	Spastic paraplegia and psychomotor retardation with or without seizures, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1340750	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.996	D	0.000	D	1.000	D	0.55	N	1.02	T	-0.904	T	0.116	T	0.751	3.865	19.64	3.93	1.140	9.152	13.169	0.280	0.0732665059902	0.0005	0.000399361	0.0001	0.0017	0	0	0	0	0	0	0.0001294	20	154602	rs146071296	3.298e-05	3.42e-05	3.691e-05	2.9e-05	0.0013	2.554e-05	2.259e-05	0.0010	0.0009	0.0013	0	0	0	0	0	0	9.969e-05	0	0.0004	0.0004	0.0004	0.0005	0.0015	0.0003	0.0003	0.0012	0.0011	0.0015	0	6.547e-05	0	0	0	0	1.471e-05	0	0	0.006	0.68238	D	0.021	0.70582	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.345	0.11182	N	1.02	0.51474	T	-2.73	0.58085	D	0.677	0.69737	-0.9036	0.47606	T	0.116	0.41031	T	10	0.14639428	0.27755	T	0.073267	0.71746	D	0.280	0.59740	.	.	0.830276587668	0.82866	0.8197178243429089	0.81928	1.47032503556	0.86526	0.817389011383	0.84628	D	0.487741	0.81368	T	-0.189622	0.22314	T	-0.0752344	0.65249	T	0.221033062596234	0.21515	T	0.972903	0.93000	D	0.30593622	0.53431	0.25397724	0.51055	0.30593622	0.53431	0.25397724	0.51054	-11.677	0.83242	D	0.15523499478624728	0.18594	0.374	0.76407	A	.;.	.;.	5.138342	0.86020	28.8	0.9981239166646757	0.89620	0.97538	0.75403	D	AEFDBHCIJ	0.886631	0.81818	D	0.478623548878277	0.65843	4.873769	0.481702095652551	0.66778	4.996603	0.999999999998474	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.548927	0.17530	0	.	.	4.8	3.93	0.44666	9.244000	0.94550	11.855000	0.98181	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0784:0.0:0.9216:0.0	13.169	0.59009	853	0.34956	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	509.98	33	chr6	104784991	.	G	A	509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.600e-01;DP=754;ExcessHet=0.0000;FS=2.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.23;ReadPosRankSum=0.060;SOR=0.375	GT:AD:DP:GQ:PL	0/1:41,21:62:99:524,0,1203	20	0	1	0
chr6	106511580	106511580	G	T	exonic	CRYBG1	.	nonsynonymous SNV	CRYBG1:NM_001371242:exon3:c.G463T:p.V155L,	.	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	.	.	.	.	.	.	-0.990	T	0.103	T	.	-0.311	2.521	0.235	0.308	0.090	.	0.016	.	.	0.00938498	0.0013	0.0273	0.0056	0	.	0	0	0	0.0005821	90	154602	rs112755587	0.0008	0.0008	0.0009	0.0007	0.0301	0.0008	0.0007	0.0285	0.0279	0.0301	0.0010	0	0	0	0.0009	8.343e-06	0.0018	3.787e-05	0.0081	0.0081	0.0084	0.0078	0.0287	0.0077	0.0076	0.0273	0.0268	0.0287	0	0.0021	0	0	0	0	4.41e-05	0.0028	0	.	.	.	0.241	0.24334	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.06454	-0.9903	0.32525	T	0.103	0.38044	T	3	0.0024419725	0.00036	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.458254	0.13193	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29724	B	.	.	1.038305	0.14185	10.76	0.73591413204992573	0.10384	0.08608	0.14514	N	AEFDGBHCI	.	.	.	-0.66846403641082	0.16925	0.8665419	-0.906799797476888	0.11934	0.6109824	0.999998502416392	0.74766	0.206829	0.04106	0	0.073863	0.01883	0	0.209056	0.04548	0	0.155393	0.04056	0	0.154594	0.27689	0.235	0.235	0.14697	0.169000	0.16457	0.030000	0.13718	0.373000	0.20310	0.000000	0.06391	0.001000	0.17328	0.433000	0.27516	.	.	.	879	0.29470	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1874.98	35	chr6	106511580	.	G	T	1874.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.879e+00;DP=923;ExcessHet=0.0000;FS=1.428;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=1.18;SOR=0.892	GT:AD:DP:GQ:PL	0/1:55,72:127:99:1889,0,1473	20	0	1	0
chr6	109382248	109382248	G	A	exonic	CD164	.	nonsynonymous SNV	CD164:NM_001142401:exon1:c.C131T:p.S44L	.	.	414	1106	1	1	0	3	0.0013544	.	.	1306425	not_provided|CD164-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.486	P	0.058	B	0.010	N	0.999	N	1.1	L	0.65	T	-1.032	T	0.048	T	0.126	2.546	14.47	3.15	1.021	0.219	9.162	0.066	.	0.0014	0.00279553	0.0011	0.0104	0.0005	0	0	0	0.0031	0	0.0005304	82	154602	rs113902228	0.0002	0.0002	0.0002	0.0001	0.0059	0.0002	0.0002	0.0052	0.0049	0.0059	0.0005	0	0	0	0.0005	6.352e-06	0.0005	3.629e-05	0.0019	0.0019	0.0019	0.0020	0.0065	0.0017	0.0017	0.0059	0.0056	0.0065	0	0.0012	0	0	0	0	1.47e-05	0.0019	0	0.083	0.47745	T	0.187	0.47336	T	0.249	0.36871	B	0.024	0.26451	B	0.009741	0.01252	N	2.883680	1	0.08975	N	1.355	0.33814	L	0.65	0.52642	T	-1.5	0.59710	N	0.142	0.14196	-1.0322	0.19745	T	0.048	0.20395	T	10	0.0042085946	0.00084	T	.	.	.	0.066	0.19193	.	.	0.580477355671	0.57718	0.31815251216856805	0.31728	0.282164039068	0.30679	0.211239099503	0.00865	T	0.029927	0.21330	T	-0.539778	0.00336	T	-0.544265	0.17880	T	0.0554150197244622	0.06426	T	0.819018	0.48339	T	0.07032395	0.15481	0.09693921	0.23053	0.07032395	0.15481	0.09693921	0.23052	-3.867	0.27484	T	.	.	0.092	0.17530	B	.;.;.;.;.	.;.;.;.;.	1.930039	0.24512	16.42	0.98712687926614939	0.45083	0.40304	0.26407	N	ALL	0.084374	0.17100	N	-0.698704760411017	0.16058	0.8148434	-0.759307433624444	0.15494	0.8151332	0.9999999999945	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.04	3.15	0.35301	0.228000	0.17594	3.419000	0.38239	0.590000	0.31872	0.000000	0.06391	0.484000	0.25117	0.007000	0.07825	0.0:0.0:0.7829:0.2171	9.162	0.36194	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	0	0	0	0	0.02381	1005.98	39	chr6	109382248	.	G	A	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.390e-01;DP=858;ExcessHet=0.0000;FS=4.491;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.06;ReadPosRankSum=-1.050e+00;SOR=0.577	GT:AD:DP:GQ:PL	0/1:32,45:77:99:1020,0,697	20	0	1	0
chr6	116253540	116253540	G	T	exonic	TSPYL4	.	nonsynonymous SNV	TSPYL4:NM_021648:exon1:c.C469A:p.R157S,	.	.	418	1079	22	3	0	28	0.0128088	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.003	B	0.001	B	.	.	1.000	N	0	N	2.22	T	-0.923	T	0.004	T	0.072	-0.731	0.875	-3.56	-0.968	-0.245	3.581	0.008	.	.	0.00119808	0.0061	0	0	0	0	0.0040	0.0042	0.0123	0.0011837	183	154602	rs182432245	0.0018	0.0017	0.0014	0.0022	0.0124	0.0017	0.0017	0.0118	0.0115	0.0003	0.0011	0.0104	2.798e-05	0.0003	0.0065	0.0009	0.0029	0.0124	0.0014	0.0014	0.0013	0.0015	0.0108	0.0012	0.0012	0.0085	0.0076	0.0002	0	0.0013	0.0075	0.0002	9.443e-05	0.0102	0.0014	0.0024	0.0108	0.721	0.03914	T	0.739	0.05000	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	0.999996	0.08975	N	0	0.06538	N	2.22	0.18248	T	0.82	0.01813	N	0.108	0.09349	-0.9230	0.45141	T	0.004	0.01435	T	9	0.0025902987	0.00039	T	.	.	.	0.008	0.00669	.	.	0.0482279557977	0.04254	0.09711456065731681	0.09642	0.372870948759	0.38771	0.356619268656	0.18893	T	0.00125	0.00742	T	-0.722558	0.00027	T	-0.800293	0.01895	T	0.0021529706113725	0.00022	T	0.135486	0.01070	T	0.078095175	0.17764	0.061591078	0.11916	0.078095175	0.17763	0.061591078	0.11916	-3.624	0.18204	T	.	.	0.112	0.21913	B	.	.	-0.051698	0.03940	0.877	0.80589257094945266	0.13275	0.07228	0.13253	N	ALL	0.085917	0.17419	N	-1.7363353794475	0.00721	0.03111612	-1.69043245975076	0.01180	0.05311064	0.999999999993605	0.74766	0.468429	0.09910	2	0.504199	0.08210	0	0.504199	0.09095	0	0.241949	0.04745	2	.	.	4.19	-3.56	0.04330	-0.401000	0.07293	-0.038000	0.12706	-0.741000	0.03665	0.000000	0.06391	0.000000	0.08366	0.431000	0.27472	0.2239:0.4961:0.1579:0.1221	3.581	0.07502	559	0.71409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4717.11	84	chr6	116253540	.	G	T	4717.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.35;DP=1632;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.287;SOR=0.696	GT:AD:DP:GQ:PL	0/1:83,85:168:99:2315,0,2066	19	0	2	0
chr6	116511997	116511997	G	C	exonic	CALHM5	.	nonsynonymous SNV	CALHM5:NM_153711:exon1:c.G301C:p.G101R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.603	P	0.257	B	0.083	N	1.000	N	2.045	M	2.28	T	-1.041	T	0.019	T	0.627	0.595	7.208	3.7	1.464	0.552	8.493	0.191	0.0124719928874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.329	0.13175	T	0.382	0.15890	T	0.603	0.39389	P	0.257	0.39298	B	0.082796	0.20789	N	0.562674	0.999987	0.18198	N	.	.	.	2.28	0.17271	T	-1.97	0.45587	N	0.688	0.69387	-1.0412	0.16951	T	0.019	0.08173	T	10	0.6576626	0.69969	D	0.012472	0.31071	T	0.191	0.46948	0.679	0.81691	0.0297737177859	0.01360	0.7496705624280515	0.74914	0.389099320883	0.40161	0.607858538628	0.54014	T	0.014533	0.12356	T	-0.10882	0.34962	T	-0.394089	0.34074	T	0.421332240104675	0.29739	T	0.844715	0.52235	T	0.10379162	0.24534	0.1178117	0.28439	0.10379162	0.24533	0.1178117	0.28439	-5.747	0.44110	T	.	.	0.785	0.76618	P	.	.	1.733489	0.22059	15.46	0.95464623518106961	0.27004	0.17643	0.19925	N	AEFDGBCIJ	0.184561	0.31189	N	-0.291351699331998	0.29481	1.635265	-0.343194258111917	0.26719	1.477732	0.999997592741511	0.74766	0.615755	0.39536	0	0.618376	0.53248	0	0.55559	0.18752	1	0.372554	0.06265	0	.	.	5.5	3.7	0.41607	0.576000	0.23446	3.430000	0.38309	0.676000	0.76740	0.148000	0.23625	1.000000	0.68203	0.159000	0.20615	0.2329:0.0:0.7671:0.0	8.493	0.32271	531	0.73574	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	778.98	37	chr6	116511997	.	G	C	778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.53;DP=794;ExcessHet=0.0000;FS=6.013;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.27;ReadPosRankSum=-1.016e+00;SOR=1.407	GT:AD:DP:GQ:PL	0/1:55,29:84:99:793,0,1416	20	0	1	0
chr6	117383444	117383444	T	C	exonic	ROS1	.	nonsynonymous SNV	ROS1:NM_002944:exon16:c.A2369G:p.N790S	.	.	.	.	.	.	.	.	.	.	.	710138	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.948	P	0.508	P	0.000	D	1.000	D	0.345	N	-2.89	D	0.127	D	0.491	T	0.044	2.350	13.82	4.57	1.834	2.161	12.017	0.326	.	0.0096	0.0115815	0.0028	0.0297	0.0015	0	0	0.0001	0.0033	0	0.0027361	423	154602	rs34582164	0.0008	0.0008	0.0010	0.0007	0.0284	0.0008	0.0008	0.0269	0.0263	0.0284	0.0016	0	0	0	0.0024	7.285e-05	0.0018	1.159e-05	0.0086	0.0086	0.0090	0.0082	0.0297	0.0082	0.0081	0.0283	0.0278	0.0297	0	0.0039	0	0	0	0.0034	8.82e-05	0.0047	0	0.051	0.39575	T	0.013	0.63109	D	0.948	0.53620	P	0.508	0.47889	P	0.000433	0.44522	D	0.097304	0.991088	0.24084	N	0.805	0.20218	L	-2.89	0.91589	D	-1.12	0.28906	N	0.367	0.40864	0.127	0.84656	D	0.491	0.80668	T	10	0.00724113	0.00165	T	.	.	.	0.326	0.64826	.	.	0.540472623666	0.53699	0.3721379142661114	0.37127	0.119512587018	0.13456	0.471038341522	0.34824	T	0.105847	0.41668	T	-0.44685	0.01179	T	-0.39096	0.34438	T	0.0256744359012161	0.01362	T	0.881612	0.60121	D	0.091167755	0.21356	0.10858057	0.26158	0.10541865	0.24925	0.10327585	0.24775	-6.36	0.49196	T	0.23995788645127605	0.32503	0.107	0.20235	B	.;.	.;.	4.866398	0.79681	27.2	0.99479499735145616	0.66795	0.79213	0.39210	D	AEFBI	0.318817	0.42241	N	0.19931557384287	0.51166	3.300095	0.260895037028158	0.53270	3.496891	0.0397015428829253	0.14406	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	2.159000	0.41965	4.847000	0.45339	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	12.017	0.52611	669	0.61081	.;.	.	.	.	.	.	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	0.02381	2154.98	34	chr6	117383444	.	T	C	2154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=844;ExcessHet=0.0000;FS=2.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-8.900e-01;SOR=0.945	GT:AD:DP:GQ:PL	0/1:81,85:166:99:2169,0,1894	20	0	1	0
chr6	118975984	118975984	T	C	exonic	FAM184A	.	nonsynonymous SNV	FAM184A:NM_001100411:exon12:c.A2156G:p.N719S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.003	B	0.013	B	0.043	N	1.000	D	1.61	L	2.58	T	-0.942	T	0.014	T	0.02	0.297	5.607	-2.89	-0.835	-0.182	10.866	0.051	0.00278515324792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	0.318	0.19246	T	0.003	0.11197	B	0.013	0.16460	B	0.043193	0.23764	N	0.474960	0.927997	0.27131	N	1.95	0.52479	M	2.52	0.21666	T	-0.23	0.12283	N	0.05	0.04913	-0.9420	0.42298	T	0.014	0.05705	T	10	0.02553171	0.00744	T	0.002785	0.05781	T	0.051	0.14325	0.135	0.03920	0.0482279557977	0.04254	0.05908708837999286	0.05848	0.114882793964	0.12965	0.255550801754	0.04375	T	0.004406	0.06247	T	-0.353972	0.04483	T	-0.746233	0.03635	T	0.0854333937168121	0.10667	T	0.854015	0.59977	D	0.031558435	0.03017	0.037560426	0.03434	0.031558435	0.03017	0.037560426	0.03434	-2.053	0.03388	T	.	.	0.052	0.00280	B	.;.;.;.;.;.	.;.;.;.;.;.	0.438904	0.08091	4.818	0.67561984020219845	0.08392	0.46201	0.27707	N	AEFI	0.133063	0.25259	N	-0.963977134281525	0.09381	0.4437643	-0.913070484706453	0.11784	0.6025158	2.59677408594814E-4	0.06190	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.21	-2.89	0.05326	-0.004000	0.12813	-0.255000	0.10474	-0.311000	0.06080	0.697000	0.28597	0.211000	0.23643	0.991000	0.66497	0.0:0.4317:0.0:0.5683	10.866	0.46063	612	0.66786	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.09524	61.27	33	chr6	118975984	.	T	C	61.27	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.654e+00;DP=942;ExcessHet=0.6776;FS=108.073;InbreedingCoeff=-0.1017;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=1.59;SOR=9.553	GT:AD:DP:GQ:PL	0/1:37,13:50:21:21,0,569	17	0	4	0
chr6	130060102	130060102	G	A	exonic	L3MBTL3	.	nonsynonymous SNV	L3MBTL3:NM_001007102:exon9:c.G751A:p.E251K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.027	B	0.021	B	0.005	N	0.998	D	0.315	N	-1.91	D	-0.696	T	0.275	T	0.386	1.835	12.10	5.27	2.625	2.773	19.257	0.268	0.0441014772226	.	.	8.242e-06	0	0	0	0	0	0	6.06e-05	6.5e-06	1	154602	rs767826800	3.423e-06	7.525e-06	1.362e-06	5.504e-06	3.481e-05	1e-06	7.3e-07	9.25e-06	4.56e-06	2.988e-05	0	0	0	0	0	9e-07	0	3.481e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.36509	T	0.501	0.12884	T	0.005	0.19556	B	0.021	0.19346	B	0.005379	0.32858	N	0.322809	0.997802	0.44208	D	0.98	0.24916	L	-1.91	0.84701	D	-1.65	0.39503	N	0.491	0.54496	-0.6958	0.60638	T	0.275	0.64722	T	10	0.25545776	0.42938	T	0.044101	0.61323	D	0.268	0.58254	0.456	0.52102	0.749769619819	0.74751	0.4278859399197859	0.42705	0.58930391847	0.54438	0.699485778809	0.67069	T	0.150835	0.49049	T	-0.0207546	0.48746	T	-0.166959	0.57722	T	0.367696031629926	0.27708	T	0.962704	0.86103	D	0.21719113	0.44196	0.15825044	0.36964	0.21719113	0.44196	0.15825044	0.36963	-8.029	0.61832	D	.	.	0.265	0.51489	B	.;.;.;.;.;.	.;.;.;.;.;.	3.765650	0.54053	23.4	0.99785982987698474	0.87219	0.87390	0.46915	D	AEFBI	0.267207	0.38396	N	-0.29930602572367	0.29175	1.615605	-0.113434515138952	0.34848	2.009199	0.061614005908694	0.15237	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	3.158000	0.50422	11.887000	0.98989	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.844000	0.39860	0.0:0.0:1.0:0.0	19.257	0.93936	928	0.17405	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1110.98	34	chr6	130060102	.	G	A	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=911;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=0.203;SOR=0.813	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,49:121:99:0|1:130060101_T_C:1125,0,1771:130060101	20	0	1	0
chr6	131708967	131708967	G	T	exonic	CTAGE9	.	nonsynonymous SNV	CTAGE9:NM_001145659:exon1:c.C2051A:p.A684D,	.	.	443	1074	5	0	0	5	0.00232234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.534	P	0.454	P	.	.	1.000	N	2.56	M	3.3	T	-1.010	T	0.015	T	0.135	0.388	6.107	.	.	2.556	.	0.062	0.00340753176538	.	0.000798722	0.0011	0	0.0008	0	0.0018	0.0015	0.0043	0.0006	0.0001537	4	26028	rs201531307	0.0015	0.0015	0.0015	0.0014	0.0017	0.0014	0.0014	0.0016	0.0016	0.0003	0.0007	0.0011	0	0.0016	0.0007	0.0017	0.0013	0.0005	0.0009	0.0009	0.0010	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	0.0002	0.0011	0.0005	0.0018	0	0.0016	0	0.0012	0	0.0007	0.025	0.47320	D	0.504	0.11041	T	0.534	0.37787	P	0.454	0.46241	P	.	.	.	.	1	0.08975	N	2.62	0.76659	M	3.3	0.06368	T	-1.44	0.35399	N	0.079	0.05414	-1.0099	0.26949	T	0.015	0.05849	T	6	0.012402415	0.00267	T	0.003408	0.07664	T	0.062	0.17934	.	.	0.170165803431	0.16609	0.1771966239042078	0.17638	.	.	0.593859434128	0.52039	T	0.008297	0.07627	T	-0.56256	0.00245	T	-0.621388	0.11078	T	0.0332211268031571	0.02508	T	0.724828	0.33863	T	0.34038988	0.56311	0.3060926	0.56635	0.34038988	0.56311	0.3060926	0.56634	-4.091	0.25157	T	.	.	0.155	0.34205	B	.	.	2.223972	0.28387	17.78	0.75495612256072586	0.11097	0.13080	0.17651	N	AEFI	0.059390	0.11214	N	-0.10563394280897	0.37146	2.15702	-0.255186150524458	0.29592	1.659196	7.69288211797132E-6	0.01202	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	1.717000	0.37612	-0.401000	0.09410	.	.	0.948000	0.32982	0.000000	0.08366	.	.	.	.	.	878	0.29785	.	.	.	.	.	.	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	1	0	0	0	0.02381	1319.98	38	chr6	131708967	.	G	T	1319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.250e-01;DP=813;ExcessHet=0.0000;FS=3.312;InbreedingCoeff=-0.0245;MLEAC=1;MLEAF=0.024;MQ=34.41;MQRankSum=-9.900e-01;QD=10.73;ReadPosRankSum=-1.490e-01;SOR=0.996	GT:AD:DP:GQ:PL	0/1:64,59:123:99:1334,0,1478	20	0	1	0
chr6	132588872	132588872	G	A	exonic	TAAR5	.	nonsynonymous SNV	TAAR5:NM_003967:exon1:c.C815T:p.T272M,	.	.	433	1086	2	1	0	4	0.00183824	.	.	710179	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.978	D	0.000	D	1.000	N	2.025	M	1.21	T	-0.908	T	0.169	T	0.378	1.879	12.24	5.47	2.847	1.898	19.510	0.165	.	0.0081	0.00758786	0.0024	0.0244	0.0011	0	0	0.0002	0	0.0002	0.0022445	347	154602	rs34746740	0.0012	0.0012	0.0013	0.0011	0.0307	0.0011	0.0011	0.0292	0.0285	0.0307	0.0016	0	0.0002	1.872e-05	0.0033	0.0004	0.0024	0.0004	0.0074	0.0074	0.0073	0.0076	0.0245	0.0071	0.0069	0.0232	0.0227	0.0245	0	0.0040	0	0	9.42e-05	0	0.0005	0.0080	0	0.003	0.68238	D	0.081	0.41742	T	1.0	0.90584	D	0.978	0.74104	D	0.000004	0.62929	D	0.000000	0.999994	0.08975	N	1.64	0.41913	L	1.21	0.37230	T	-2.46	0.53736	N	0.245	0.27673	-0.9083	0.47061	T	0.169	0.50858	T	10	0.005063206	0.00109	T	.	.	.	0.165	0.42395	.	.	0.533469874242	0.52997	0.5105206847410025	0.50974	0.0826956739839	0.09334	0.311906695366	0.12194	T	0.060944	0.31522	T	-0.462811	0.00944	T	-0.417976	0.31308	T	0.0464669412674094	0.04868	T	0.441056	0.12198	T	0.28672364	0.51687	0.32116142	0.58066	0.28672364	0.51686	0.32116142	0.58065	-6.776	0.52380	T	.	.	0.172	0.37727	B	.	.	3.801797	0.54779	23.5	0.99761766777191396	0.85091	0.33580	0.24862	N	AEFBI	0.099649	0.20054	N	0.369975211673695	0.59801	4.162706	0.259455566934099	0.53189	3.489108	0.994639708451559	0.33729	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.47	5.47	0.80345	1.158000	0.31347	2.446000	0.32792	-0.107000	0.15377	0.002000	0.15269	0.069000	0.22184	0.362000	0.25931	0.0:0.0:1.0:0.0	19.510	0.95131	864	0.32732	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	0.02381	1599.98	35	chr6	132588872	.	G	A	1599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.294;DP=819;ExcessHet=0.0000;FS=0.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=1.09;SOR=0.614	GT:AD:DP:GQ:PL	0/1:51,63:114:99:1614,0,1253	20	0	1	0
chr6	137002249	137002249	T	C	exonic	IL20RA	.	nonsynonymous SNV	IL20RA:NM_001278723:exon6:c.A638G:p.H213R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.418	B	0.053	B	0.165	N	1.000	N	0.69	N	2.03	T	-1.091	T	0.039	T	0.032	1.346	10.42	-4.73	-0.452	0.421	8.615	0.029	0.0108436757943	.	0.000798722	2.488e-05	0.0003	0	0	0	0	0	0	4.53e-05	7	154602	rs200346796	9.577e-06	9.577e-06	1.089e-05	8.251e-06	0.0001	5.56e-06	4.35e-06	5.849e-05	3.758e-05	0.0001	0	0	0	0	0	8.993e-07	4.967e-05	5.797e-05	2.626e-05	2.624e-05	2.57e-05	2.686e-05	9.624e-05	8.14e-06	5.14e-06	3.243e-05	1.91e-05	9.624e-05	0	0	0	0	0	0	0	0	0	0.362	0.12187	T	0.365	0.16914	T	0.091	0.35279	B	0.024	0.25678	B	0.165461	0.03071	N	1.607530	1	0.08975	N	1.15	0.29295	L	0.3	0.58755	T	-0.6	0.18459	N	0.037	0.01421	-1.0915	0.05286	T	0.039	0.16935	T	10	0.01686582	0.00357	T	0.010844	0.27831	T	0.029	0.06676	0.274	0.22528	0.599614719723	0.59642	0.25616726827266856	0.25530	0.331651304066	0.35233	0.267986148596	0.05880	T	0.012782	0.11175	T	-0.504996	0.00536	T	-0.683733	0.06758	T	0.0230344810300038	0.01027	T	0.619338	0.23774	T	0.03692505	0.04635	0.039972864	0.04213	0.03692505	0.04634	0.039972864	0.04213	-3.497	0.17067	T	.	.	0.075	0.06756	B	.;.;.	.;.;.	0.779471	0.11495	8.097	0.60121414936983952	0.06387	0.14185	0.18268	N	AEFBI	0.135773	0.25622	N	-1.03646312733567	0.07855	0.3663551	-1.10418030775699	0.07620	0.3713618	0.999976780380861	0.50053	0.497415	0.19182	0	0.59043	0.45803	0	0.507148	0.09336	0	0.651492	0.60203	0	.	.	5.88	-4.73	0.03022	-0.311000	0.08164	0.132000	0.15059	0.665000	0.62972	0.000000	0.06391	0.013000	0.20296	0.560000	0.30412	0.1896:0.0:0.4169:0.3935	8.615	0.32990	850	0.35610	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	893.98	54	chr6	137002249	.	T	C	893.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.015e+00;DP=884;ExcessHet=0.0000;FS=1.663;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.41;ReadPosRankSum=-7.630e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:54,41:95:99:908,0,1513	20	0	1	0
chr6	138107216	138107216	C	A	exonic	PERP	.	nonsynonymous SNV	PERP:NM_022121:exon1:c.G125T:p.G42V,	.	.	417	1104	1	0	0	1	0.000452694	.	.	710195	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.0	B	0.411	N	1.000	N	-1.1	N	-2.65	D	-0.807	T	0.115	T	0.051	0.744	7.945	-8.3	-2.135	-1.018	0.636	0.161	.	0.0081	0.00878594	0.0022	0.0258	0.0017	0	0	9.673e-05	0.0012	6.159e-05	0.0022251	344	154602	rs78795891	0.0010	0.0010	0.0011	0.0009	0.0303	0.0010	0.0010	0.0288	0.0282	0.0303	0.0017	0	0	0	0.0021	0.0001	0.0039	0.0001	0.0085	0.0085	0.0084	0.0086	0.0290	0.0081	0.0079	0.0276	0.0271	0.0290	0	0.0041	0	0	0	0.0034	0.0001	0.0061	0	0.604	0.05567	T	0.385	0.15746	T	0.0	0.02946	B	0.0	0.01387	B	0.411002	0.04591	N	1.425340	1	0.08975	N	-1.32	0.00691	N	-2.65	0.90210	D	0.9	0.01618	N	0.077	0.05162	-0.8074	0.54706	T	0.115	0.40853	T	10	0.0025757253	0.00039	T	.	.	.	0.161	0.41658	.	.	0.245101548738	0.24120	0.5085539055989529	0.50777	0.649092464659	0.58234	0.314414143562	0.12574	T	0.332493	0.70245	T	-0.526833	0.00401	T	-0.507906	0.21530	T	0.00683783218699652	0.00077	T	0.0653935	0.00475	T	0.03744832	0.04802	0.045964997	0.06303	0.03744832	0.04801	0.045964997	0.06302	-2.37	0.04952	T	.	.	0.046	0.00061	B	.	.	-0.734474	0.01243	0.063	0.56154178181448566	0.05492	0.01351	0.04634	N	AEFDGBHCI	0.076662	0.15428	N	-2.08293082102024	0.00139	0.005970792	-2.12330199545274	0.00166	0.007284807	0.999999999999998	0.74766	0.455138	0.09556	0	0.609123	0.50646	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	4.15	-8.3	0.00881	-0.843000	0.04457	-0.450000	0.09105	-1.430000	0.01117	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.2448:0.3017:0.1552:0.2983	0.636	0.00750	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	0	0	0	1	0	0	0	0.02381	1322.98	35	chr6	138107216	.	C	A	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.031e+00;DP=854;ExcessHet=0.0000;FS=0.644;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.87;ReadPosRankSum=-6.910e-01;SOR=0.604	GT:AD:DP:GQ:PL	0/1:74,60:134:99:1337,0,1946	20	0	1	0
chr6	139242800	139242800	G	A	exonic	TXLNB	.	nonsynonymous SNV	TXLNB:NM_153235:exon10:c.C1781T:p.P594L,	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	B	0.003	B	0.112	N	1.000	N	0.345	N	2.36	T	-0.977	T	0.007	T	0.044	1.141	9.649	0.988	0.289	-0.296	1.732	0.009	.	0.0082	0.00519169	0.0085	0.0014	0.0041	0	0.0094	0.0104	0.0044	0.0130	0.0085057	1315	154602	rs142843391	0.0097	0.0097	0.0094	0.0100	0.0198	0.0095	0.0095	0.0168	0.0157	0.0014	0.0041	0.0161	2.519e-05	0.0087	0.0198	0.0100	0.0097	0.0138	0.0070	0.0071	0.0075	0.0066	0.0137	0.0067	0.0066	0.0110	0.0101	0.0017	0	0.0035	0.0158	0	0.0088	0.0204	0.0105	0.0066	0.0137	0.121	0.27783	T	0.15	0.32461	T	0.003	0.11197	B	0.003	0.08700	B	0.112033	0.02648	N	1.828980	1	0.08975	N	1.61	0.41143	L	2.36	0.16089	T	-2.6	0.55983	D	0.061	0.03283	-0.9766	0.35772	T	0.007	0.02598	T	9	0.00434196	0.00088	T	.	.	.	0.009	0.00846	.	.	0.117506650769	0.11410	0.10405901791647389	0.10335	0.0776381010885	0.08735	0.28201675415	0.07775	T	0.006405	0.05833	T	-0.726782	0.00025	T	-0.805072	0.01779	T	0.00267633473456065	0.00028	T	0.344066	0.07525	T	0.032116443	0.03176	0.04711767	0.06716	0.032116443	0.03175	0.04711767	0.06715	-5.056	0.37442	T	.	.	0.067	0.02488	B	.	.	0.186468	0.05734	2.177	0.46548963698285656	0.03737	0.10788	0.16193	N	AEFBI	0.181520	0.30884	N	-1.26363731614048	0.04122	0.1854551	-1.25041412218816	0.05125	0.2434541	0.00302891155545131	0.09875	0.553676	0.25195	0	0.588015	0.36545	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	5.04	0.988	0.18914	-0.342000	0.07848	-0.521000	0.08690	-0.670000	0.04303	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1898:0.159:0.4872:0.1639	1.732	0.02757	532	0.73501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2111.11	36	chr6	139242800	.	G	A	2111.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.58;DP=904;ExcessHet=0.1072;FS=0.564;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=0.399;SOR=0.769	GT:AD:DP:GQ:PL	0/1:40,42:82:99:1238,0,1151	19	0	2	0
chr6	143096038	143096038	C	G	exonic	AIG1	.	nonsynonymous SNV	AIG1:NM_001366344:exon2:c.C251G:p.A84G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1409960423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.601e-06	6.576e-06	1.289e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	35.47	1	chr6	143096038	.	C	G	35.47	.	AC=2;AF=0.077;AN=26;DP=39;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3272;MLEAC=2;MLEAF=0.077;MQ=60.00;QD=17.74;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	12	1	0	8
chr6	148548500	148548500	G	T	exonic	SASH1	.	nonsynonymous SNV	SASH1:NM_001346507:exon13:c.G2969T:p.R990I	.	.	437	1084	1	0	0	1	0.000461042	.	.	699366	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.427	B	0.185	B	0.001	D	1.000	D	1.385	L	-2.07	D	-0.551	T	0.285	T	0.115	2.615	14.70	2.57	0.642	2.264	6.365	0.306	.	0.0088	0.0109824	0.0027	0.0265	0.0023	0	0	0.0003	0.0056	0.0001	0.0026778	414	154602	rs61996289	0.0011	0.0011	0.0011	0.0010	0.0277	0.0010	0.0010	0.0262	0.0256	0.0277	0.0019	0.0013	0	0	0.0059	0.0002	0.0030	0.0002	0.0075	0.0075	0.0076	0.0073	0.0255	0.0071	0.0070	0.0242	0.0237	0.0255	0	0.0031	0.0023	0	0	0.0034	0.0002	0.0033	0	0.003	0.68238	D	0.016	0.60972	D	0.427	0.35524	B	0.185	0.36047	B	0.000673	0.42516	D	0.257624	0.999986	0.54805	D	1.195	0.30194	L	-2.07	0.85943	D	-2.05	0.47008	N	0.148	0.18784	-0.5511	0.66745	T	0.285	0.65665	T	10	0.0075474977	0.00171	T	.	.	.	0.306	0.62729	.	.	0.89600254552	0.89497	0.5609210872077474	0.56019	0.369694341272	0.38498	0.371209472418	0.21006	T	0.041134	0.25758	T	-0.392972	0.02574	T	-0.316304	0.42979	T	0.0346698785293855	0.02752	T	0.878912	0.59457	D	0.109509625	0.25890	0.17862569	0.40544	0.14806776	0.33819	0.17864294	0.40545	-8.818	0.66518	D	0.2404497818916538	0.32568	0.230	0.53261	B	.;.	.;.	3.091358	0.41625	21.4	0.97107006766431436	0.32392	0.97090	0.72631	D	AEFDBIJ	0.243533	0.36480	N	-0.178670257558677	0.34025	1.937096	-0.0908496607956728	0.35767	2.073244	0.999873481471847	0.44625	0.706548	0.73137	0	0.563428	0.19063	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.36	2.57	0.29928	2.315000	0.43412	1.484000	0.26842	-0.153000	0.12021	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2118:0.1312:0.6571:0.0	6.365	0.20654	961	0.08552	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|SASH1, SAM domain repeat 2;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|SASH1, SAM domain repeat 2	.	.	.	.	.	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	0.02381	555.98	33	chr6	148548500	.	G	T	555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.046e+00;DP=752;ExcessHet=0.0000;FS=6.645;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.35;ReadPosRankSum=-2.481e+00;SOR=0.190	GT:AD:DP:GQ:PL	0/1:25,24:49:99:570,0,685	20	0	1	0
chr6	151305798	151305798	G	A	exonic	AKAP12	.	nonsynonymous SNV	AKAP12:NM_005100:exon3:c.G214A:p.D72N,	.	.	426	1085	10	1	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.072	B	0.021	B	0.798	N	0.833	D	0.345	N	3.18	T	-0.962	T	0.006	T	0.012	1.928	12.41	3.57	2.229	3.867	11.005	0.105	.	0.0004	0.0235623	0.0125	9.632e-05	0.0003	0.0009	0.0002	0.0002	0.0044	0.0900	0.0109636	1695	154602	rs61755979	0.0056	0.0056	0.0031	0.0081	0.0878	0.0055	0.0054	0.0862	0.0855	0.0003	0.0002	0.0004	0.0010	0.0001	0.0069	0.0001	0.0060	0.0878	0.0034	0.0034	0.0019	0.0051	0.0991	0.0032	0.0031	0.0918	0.0889	0.0004	0	6.539e-05	0.0003	0.0014	0.0002	0	0.0002	0.0014	0.0991	0.157	0.23997	T	0.228	0.25286	T	0.072	0.23997	B	0.021	0.19346	B	0.797877	0.06751	N	1.128540	0.999949	0.19238	N	0.345	0.11182	N	3.18	0.07478	T	-0.3	0.11913	N	0.059	0.03069	-0.9624	0.38723	T	0.006	0.02168	T	10	0.001671493	0.00020	T	.	.	.	0.105	0.29889	.	.	.	.	0.04261571931084345	0.04206	0.170386787088	0.19210	0.288726627827	0.08737	T	0.037875	0.24637	T	-0.741569	0.00020	T	-0.770316	0.02758	T	0.0121051727848321	0.00193	T	0.69643	0.30590	T	0.0696504	0.15277	0.048349697	0.07162	0.0696504	0.15277	0.048349697	0.07161	-4.599	0.32159	T	.	.	0.113	0.22391	B	.;.	.;.	3.066629	0.41201	21.3	0.97627910582490451	0.35006	0.69037	0.34030	D	AEFBI	0.175781	0.30297	N	-0.401819118567381	0.25405	1.37886	-0.271013495138852	0.29057	1.625006	0.998963678675409	0.38084	0.706298	0.61202	0	0.548873	0.16688	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.5	3.57	0.40014	2.543000	0.45411	10.717000	0.83617	0.596000	0.33519	0.911000	0.31706	1.000000	0.68203	0.065000	0.16320	0.0:0.1895:0.8105:0.0	11.005	0.46846	922	0.19044	.;.	.	.	.	.	.	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	0.02381	1266.98	33	chr6	151305798	.	G	A	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.091e+00;DP=762;ExcessHet=0.0000;FS=2.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=0.276;SOR=0.829	GT:AD:DP:GQ:PL	0/1:36,49:85:99:1281,0,957	20	0	1	0
chr6	152331115	152331115	C	G	exonic	SYNE1	.	nonsynonymous SNV	SYNE1:NM_033071:exon77:c.G13357C:p.V4453L	Emery-Dreifuss muscular dystrophy 4, autosomal dominant, Autosomal dominant;Spinocerebellar ataxia, autosomal recessive 8, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.005	B	0.013	B	0.325	N	1.000	D	0	N	1.38	T	-0.982	T	0.014	T	0.053	0.267	5.442	0.886	-0.126	1.362	6.318	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	718.73	89	chr6	152331115	.	C	G	718.73	.	AC=6;AF=0.200;AN=30;BaseQRankSum=-4.924e+00;DP=3151;ExcessHet=1.7912;FS=264.883;InbreedingCoeff=-0.2612;MLEAC=7;MLEAF=0.233;MQ=60.00;MQRankSum=0.00;QD=0.72;ReadPosRankSum=1.87;SOR=10.735	GT:AD:DP:GQ:PL	0/1:123,40:169:3:3,0,2821	9	0	6	6
chr6	158064655	158064655	C	T	exonic	SYNJ2	.	nonsynonymous SNV	SYNJ2:NM_001178088:exon9:c.C553T:p.R185C	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.97	M	1.67	T	-0.662	T	0.187	T	0.955	3.770	19.14	5.35	2.513	3.508	14.021	0.441	0.133535047678	.	0.000199681	0.0001	9.638e-05	0	0	0.0006	3.006e-05	0	0.0007	0.0001358	21	154602	rs563234772	8.551e-05	8.551e-05	7.079e-05	0.0001	0.0006	7.312e-05	6.816e-05	0.0005	0.0004	5.974e-05	8.944e-05	0	0.0002	0.0004	0.0002	2.788e-05	0.0001	0.0006	0.0001	0.0001	3.854e-05	0.0002	0.0008	7.086e-05	5.743e-05	0.0003	0.0002	2.406e-05	0	0	0	0	0.0008	0	4.411e-05	0	0.0008	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000005	0.62929	D	0.000000	1	0.81001	D	2.565	0.75005	M	1.67	0.27331	T	-7.46	0.94928	D	0.876	0.87373	-0.6617	0.62201	T	0.187	0.53752	T	10	0.32470226	0.49791	T	0.133535	0.81592	D	0.441	0.74447	0.478	0.55663	0.602027889807	0.59885	0.5159077481706351	0.51513	0.88249259493	0.69822	0.552255153656	0.46176	T	0.807328	0.95148	D	-0.0133333	0.49797	T	0.107234	0.77390	D	0.933168888092041	0.59972	D	0.979402	0.92878	D	0.6214639	0.73842	0.4849874	0.70189	0.6214639	0.73843	0.4849874	0.70190	-10.764	0.79267	D	.	.	0.551	0.66846	A	.;.;.	.;.;.	5.347869	0.89711	31	0.99934289656698494	0.99535	0.96026	0.67198	D	AEFDBI	0.557800	0.56728	D	0.767510465260961	0.84040	8.177967	0.701972998334026	0.82528	7.789451	1.0	0.98316	0.67177	0.52595	0	0.588066	0.40923	0	0.608524	0.38960	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	3.566000	0.53550	5.934000	0.51367	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.729000	0.35066	0.1511:0.8489:0.0:0.0	14.021	0.64073	958	0.09170	SAC domain;.;SAC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	867.98	36	chr6	158064655	.	C	T	867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=822;ExcessHet=0.0000;FS=8.044;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.82;ReadPosRankSum=0.307;SOR=1.408	GT:AD:DP:GQ:PL	0/1:74,37:111:99:882,0,1787	20	0	1	0
chr6	158762154	158762154	G	A	exonic	SYTL3	.	nonsynonymous SNV	SYTL3:NM_001318745:exon13:c.G875A:p.G292D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.938	N	2.465	M	3.21	T	-1.137	T	0.055	T	0.826	4.346	22.9	5.02	2.725	6.228	17.422	0.266	0.0430214793201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	0.0003	2.3e-07	9e-08	6.096e-05	2.522e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.019	0.59159	D	1.0	0.90584	D	0.999	0.97372	D	0.000265	0.46590	D	0.086604	0.961673	0.26877	N	3.165	0.88605	M	3.21	0.07125	T	-4.74	0.80172	D	0.737	0.77507	-1.1371	0.01470	T	0.055	0.23110	T	10	0.7708796	0.77072	D	0.043021	0.60770	D	0.266	0.57999	0.625	0.76028	0.439870908748	0.43606	0.5152576589467257	0.51448	0.144358480749	0.16299	0.707287311554	0.68200	T	0.194437	0.55022	T	0.129	0.67293	D	-0.0520456	0.66883	D	0.998655200004578	0.94768	D	0.89751	0.64163	D	0.87590367	0.89333	0.833779	0.90432	0.87590367	0.89334	0.833779	0.90432	-12.814	0.88582	D	.	.	0.501	0.64618	A	.;.;.;.	.;.;.;.	5.050179	0.84110	28.2	0.99853421218803318	0.93279	0.78255	0.38581	D	AEFDGBCI	0.482570	0.52338	N	0.707812690691719	0.80146	7.229775	0.619518538699354	0.76357	6.476367	0.999999999976561	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.536957	0.11973	0	0.664235	0.64389	0	.	.	5.02	5.02	0.66742	6.283000	0.72672	10.732000	0.83642	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.422	0.87409	751	0.51694	.;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1125.98	35	chr6	158762154	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.110e-01;DP=823;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.62;ReadPosRankSum=-1.040e-01;SOR=0.571	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1140,0,1356	20	0	1	0
chr6	160595441	160595441	G	C	exonic	LPA	.	nonsynonymous SNV	LPA:NM_005577:exon21:c.C3382G:p.L1128V,	.	.	0	1504	16	2	0	20	0.00660502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.074	B	0.669	P	.	.	1.000	N	0.075	N	-0.19	T	-0.739	T	0.085	T	0.15	1.229	9.986	1.23	0.212	0.212	4.725	0.115	0.00993353122689	.	0.00119808	0.0008	0	8.639e-05	0	0	7.494e-05	0	0.0055	0.0006792	105	154602	rs199532848	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	2.987e-05	4.472e-05	0	0	0	0.0026	6.565e-05	0.0005	0.0057	0.0003	0.0003	0.0002	0.0003	0.0060	0.0002	0.0002	0.0043	0.0037	4.817e-05	0	6.542e-05	0	0	0	0.0034	0.0001	0	0.0060	0.356	0.12070	T	0.171	0.30339	T	.	.	.	.	.	.	.	.	.	.	0.999952	0.19072	N	.	.	.	-0.19	0.65931	T	-0.27	0.11366	N	0.444	0.48227	-0.7394	0.58483	T	0.085	0.33269	T	9	0.006380707	0.00144	T	0.009934	0.25856	T	0.115	0.32236	.	.	0.181679512989	0.17746	0.09999171534566688	0.09930	0.262508907343	0.28810	0.47980889678	0.36030	T	.	.	.	-0.507133	0.00521	T	-0.499042	0.22448	T	0.102417654224001	0.12622	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.49265	B	.;.	.;.	1.799731	0.22873	15.80	0.99492814965958343	0.67573	0.37211	0.25710	N	AEFDGHCI	0.097501	0.19664	N	-0.640166366920478	0.17747	0.9158408	-0.610956012351554	0.19212	1.029751	5.25104750500832E-4	0.07225	0.525926	0.21836	0	0.573888	0.26702	0	0.615948	0.41167	0	0.564101	0.26826	0	.	.	2.14	1.23	0.20358	0.045000	0.13898	-2.546000	0.03624	0.342000	0.19800	0.207000	0.24389	0.000000	0.08366	0.014000	0.10232	0.2034:0.0:0.7966:0.0	4.725	0.12316	889	0.27310	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2365.98	33	chr6	160595441	.	G	C	2365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.213e+00;DP=909;ExcessHet=0.0000;FS=3.089;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.01;MQRankSum=1.62;QD=11.21;ReadPosRankSum=0.556;SOR=0.922	GT:AD:DP:GQ:PL	0/1:106,105:211:99:2380,0,2867	20	0	1	0
chr6	160992024	160992024	-	CCA	exonic	MAP3K4	.	nonframeshift insertion	MAP3K4:NM_001301072:exon1:c.93_94insCCA:p.P36_E37insP	.	.	397	1123	2	0	0	2	0.00088968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	9.149e-05	0	0.0005	3.84e-05	1	26028	rs751708483	7.333e-05	7.8e-05	4.797e-05	9.915e-05	0.0010	6.154e-05	5.747e-05	0.0009	0.0008	0	2.557e-05	0	0	0	0.0004	1.192e-05	6.838e-05	0.0010	2.628e-05	2.625e-05	1.285e-05	4.031e-05	0.0006	8.14e-06	5.14e-06	0.0002	9e-05	0	0	0	0	0	0	0	1.471e-05	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	936.94	35	chr6	160992024	.	G	GCCA	936.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.110e+00;DP=780;ExcessHet=0.0000;FS=4.288;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=20.82;ReadPosRankSum=-2.290e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:20,25:45:99:951,0,743	20	0	1	0
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3195.59	88	chr6	167976273	.	A	*,C	3195.59	.	AC=10,6;AF=0.250,0.150;AN=40;BaseQRankSum=0.163;DP=1063;ExcessHet=1.8260;FS=13.368;InbreedingCoeff=0.0227;MLEAC=10,5;MLEAF=0.250,0.125;MQ=55.81;MQRankSum=-3.188e+00;QD=4.92;ReadPosRankSum=0.937;SOR=0.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:38,0,38:76:99:.:.:874,988,2096,0,1108,994	7	3	4	1
chr6	167976591	167976591	-	AGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGA	exonic	HGC6.3	.	nonframeshift insertion	HGC6.3:NM_001129895:exon1:c.61_62insTCTTCTCCTCCCCCAACACTGCAGGGGGAATGACCCCCACTGCCT:p.A20_S21insFFSSPNTAGGMTPTA,	.	.	421	1063	31	0	7	38	0.0143718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	0	0	0	0	0	0.0026	3.84e-05	1	26028	rs766050036	0.0002	0.0004	0.0002	0.0003	0.0033	0.0002	0.0002	0.0027	0.0026	0	0	0	0	0.0029	0.0006	5.259e-05	6.702e-05	0.0033	0.0036	0.0087	0.0038	0.0033	0.0135	0.0033	0.0032	0.0101	0.0090	0.0041	0.0033	0.0017	0.0004	0	0.0018	0	0.0038	0.0052	0.0135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	507.78	83	chr6	167976591	.	G	GAGGCAGTGGGGGTCATTCCCCCTGCAGTGTTGGGGGAGGAGAAGA	507.78	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.626;DP=1319;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=56.83;MQRankSum=-1.920e+00;QD=11.81;ReadPosRankSum=-1.303e+00;SOR=0.620	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:28,15:43:99:.:.:506,0,1127	19	0	1	1
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	942.0	42	chr6	170561952	.	A	*,G	942.0	.	AC=35,1;AF=0.833,0.024;AN=42;BaseQRankSum=0.00;DP=3619;ExcessHet=0.1217;FS=0.775;InbreedingCoeff=0.2222;MLEAC=35,1;MLEAF=0.833,0.024;MQ=60.00;MQRankSum=0.00;QD=0.75;ReadPosRankSum=1.62;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,52,0:55:53:1|1:170561949_GCAA_G:1508,53,0,1518,160,1624:170561949	1	15	4	0
chr6	170561961	170561961	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	.	128	893	348	41	112	542	0.194043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	20125.09	79	chr6	170561961	.	G	GCAA,*,A	20125.09	.	AC=13,1,1;AF=0.406,0.031,0.031;AN=32;BaseQRankSum=0.493;DP=3427;ExcessHet=8.1482;FS=0.000;InbreedingCoeff=-0.5184;MLEAC=15,1,1;MLEAF=0.469,0.031,0.031;MQ=59.97;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.905;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:7,81,0,0:88:32:1|1:170561949_GCAA_G:2694,32,0,2401,370,3461,2401,370,3461,3461:170561949	2	1	11	5
chr7	987514	987514	G	A	exonic	CYP2W1	.	nonsynonymous SNV	CYP2W1:NM_017781:exon7:c.G1126A:p.G376S,	.	.	413	1090	18	1	0	20	0.00909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.979	D	0.7	P	0.000	N	0.712	N	3.195	M	-1.0	T	-0.153	T	0.486	T	0.221	2.530	14.42	1.79	0.132	1.222	6.707	0.318	0.0686951798635	0.0009	0.000798722	0.0016	0.0019	0.0028	0	0	0.0025	0	0.0009	0.0004722	73	154602	rs201612311	0.0008	0.0008	0.0008	0.0008	0.0128	0.0008	0.0008	0.0104	0.0096	0.0002	0.0014	0.0017	5.589e-05	0	0.0128	0.0008	0.0012	0.0010	0.0008	0.0008	0.0009	0.0008	0.0024	0.0007	0.0007	0.0017	0.0015	0.0001	0	0.0024	0.0020	0.0002	0	0.0068	0.0010	0.0014	0.0004	0.014	0.59928	D	0.081	0.63109	T	0.936	0.59044	P	0.499	0.54153	P	0.000444	0.44317	N	0.258785	0.712226	0.30002	N	3.355	0.91145	M	-1.0	0.76037	T	-4.3	0.80682	D	0.189	0.21319	-0.1532	0.78837	T	0.486	0.80395	T	10	0.035232127	0.01763	T	0.068695	0.70522	D	0.318	0.64008	.	.	0.819972634414	0.81827	0.6808159409528889	0.68020	0.377217779885	0.39159	0.324691742659	0.14131	T	0.156394	0.49854	T	-0.352715	0.04559	T	-0.309506	0.43711	T	0.129212127138541	0.15309	T	0.653735	0.41012	T	0.31083548	0.53859	0.33287317	0.59131	0.31083548	0.53859	0.33287317	0.59130	-6.824	0.52737	T	.	.	0.090	0.16099	B	.;.;.	.;.;.	2.148121	0.27360	17.44	0.98972352430746946	0.49560	0.56362	0.30098	D	AEFDBHCI	0.166117	0.29267	N	-0.0160078048044343	0.41132	2.45481	-0.164251723813962	0.32864	1.873969	0.999999708435375	0.74766	0.580535	0.33130	0	0.514364	0.08380	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.62	1.79	0.23992	2.254000	0.42868	0.699000	0.20831	-0.703000	0.04025	0.980000	0.35271	0.114000	0.22828	0.008000	0.08271	0.1515:0.2728:0.5757:0.0	6.707	0.22443	940	0.13648	.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	517.98	34	chr7	987514	.	G	A	517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=768;ExcessHet=0.0000;FS=2.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.117;SOR=0.299	GT:AD:DP:GQ:PL	0/1:22,22:44:99:532,0,539	20	0	1	0
chr7	1058297	1058297	C	T	exonic	GPR146	.	nonsynonymous SNV	GPR146:NM_001303473:exon2:c.C782T:p.S261L	.	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.021	B	0.004	B	0.956	N	1.000	N	0.55	N	-0.61	T	-1.028	T	0.124	T	0.425	-0.325	2.459	3.12	0.419	0.252	9.796	0.176	.	0.0018	0.00499201	0.0026	0.0017	0.0019	0	0.0002	0.0026	0.0022	0.0057	0.0024709	382	154602	rs61731818	0.0025	0.0024	0.0023	0.0026	0.0222	0.0024	0.0023	0.0185	0.0172	0.0014	0.0027	0.0195	2.773e-05	2.142e-05	0.0222	0.0013	0.0042	0.0041	0.0022	0.0022	0.0021	0.0022	0.0052	0.0020	0.0019	0.0036	0.0031	0.0015	0	0.0035	0.0216	0	0	0.0170	0.0014	0.0061	0.0052	0.545	0.06691	T	0.199	0.27679	T	0.021	0.18474	B	0.004	0.10090	B	0.955972	0.08256	N	0.974748	0.999986	0.18198	N	0.41	0.12415	N	-0.61	0.71779	T	-0.42	0.18042	N	0.042	0.01498	-1.0282	0.21038	T	0.124	0.42799	T	10	0.0032946467	0.00057	T	.	.	.	0.176	0.44373	.	.	0.427713192076	0.42389	0.12384076464715456	0.12310	0.0659189846376	0.07352	0.359224975109	0.19273	T	0.02272	0.17466	T	-0.399436	0.02335	T	-0.345586	0.39710	T	0.000862943776935603	0.00008	T	0.621638	0.23898	T	0.024727002	0.01333	0.03364915	0.02295	0.024727002	0.01333	0.03364915	0.02294	-0.804	0.00806	T	.	.	0.097	0.15788	B	.;.	.;.	0.824561	0.11960	8.519	0.54683460613266677	0.05187	0.11833	0.16891	N	AEFGBI	0.090223	0.18283	N	-1.08284032548822	0.06959	0.3218808	-1.04846480435655	0.08739	0.4311509	0.999645661480633	0.41316	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	5.11	3.12	0.34986	0.273000	0.18425	1.795000	0.28833	0.597000	0.34315	0.000000	0.06391	0.004000	0.18990	0.002000	0.04165	0.0:0.7761:0.0:0.2239	9.796	0.39901	912	0.21483	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	0.02381	2021.98	37	chr7	1058297	.	C	T	2021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=1092;ExcessHet=0.0000;FS=0.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.512;SOR=0.757	GT:AD:DP:GQ:PL	0/1:76,79:155:99:2036,0,1911	20	0	1	0
chr7	1472318	1472318	T	C	exonic	INTS1	.	nonsynonymous SNV	INTS1:NM_001080453:exon44:c.A6139G:p.M2047V,	.	.	421	1095	6	0	0	6	0.00273224	.	.	1857986	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.000	N	0.975	N	0.92	L	0.96	T	-1.036	T	0.066	T	0.38	0.004	4.037	2.53	0.249	3.307	8.792	0.168	0.00908245319689	0.0004	.	0.0011	0	0.0031	0	0	0.0023	0	0.0001	0.0002846	44	154602	rs199728337	0.0003	0.0003	0.0003	0.0003	0.0023	0.0003	0.0003	0.0014	0.0011	3.07e-05	0.0008	0.0003	0	2.048e-05	0.0023	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	9.653e-05	0	6.541e-05	0.0003	0	0	0	0.0005	0.0005	0.0002	0.356	0.23997	T	0.184	0.29056	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	N	0.081304	0.975375	0.25437	N	1.545	0.39105	L	0.96	0.42888	T	-0.88	0.49352	N	0.288	0.32591	-1.0364	0.18419	T	0.066	0.27156	T	10	0.015866369	0.00333	T	0.009082	0.23893	T	0.168	0.42943	.	.	0.177238962908	0.17366	0.5357272688488487	0.53497	.	.	0.345334082842	0.17232	T	0.13399	0.46498	T	-0.402555	0.02228	T	-0.43028	0.29903	T	0.0068017316017316	0.00077	T	0.785321	0.42297	T	0.15881054	0.35708	0.120991476	0.29195	0.15881054	0.35708	0.120991476	0.29195	-1.834	0.02613	T	.	.	0.103	0.27313	B	.;.	.;.	1.257851	0.16555	12.61	0.50267604248621045	0.04354	0.81891	0.41207	D	AEFDBCI	0.319303	0.42274	N	-0.590322177338371	0.19237	1.005265	-0.500152409005489	0.22149	1.201671	0.443404504912089	0.20472	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.96	2.53	0.29594	3.299000	0.51533	0.854000	0.22166	0.663000	0.56723	1.000000	0.71638	0.660000	0.26011	0.297000	0.24428	0.0:0.1603:0.0:0.8397	8.792	0.34014	934	0.15400	.;.	.	.	.	.	.	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	0.02381	842.98	36	chr7	1472318	.	T	C	842.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.010e-01;DP=772;ExcessHet=0.0000;FS=1.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-1.496e+00;SOR=0.567	GT:AD:DP:GQ:PL	0/1:36,37:73:99:857,0,851	20	0	1	0
chr7	2513251	2513251	-	GATG	exonic	LFNG	.	frameshift insertion	LFNG:NM_001166355:exon2:c.142_143insGATG:p.E56Gfs*2,	.	.	6	688	570	158	100	986	0.391689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	18008.05	36	chr7	2513247	.	AGATG	AGATGGATG,A	18008.05	.	AC=8,2;AF=0.190,0.048;AN=42;BaseQRankSum=1.07;DP=1568;ExcessHet=1.5138;FS=0.554;InbreedingCoeff=-0.0500;MLEAC=8,2;MLEAF=0.190,0.048;MQ=60.00;MQRankSum=0.00;QD=23.54;ReadPosRankSum=-8.200e-02;SOR=0.731	GT:AD:DP:GQ:PL	0/1:41,48,0:89:99:1881,0,1568,2006,1713,3719	12	0	7	0
chr7	4801671	4801671	G	A	exonic	RADIL	.	nonsynonymous SNV	RADIL:NM_018059:exon12:c.C2824T:p.R942W,	.	.	433	1085	4	0	0	4	0.00183993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.992	D	0.332	B	0.197	N	1.000	N	1.39	L	3.26	T	-1.014	T	0.015	T	0.102	1.825	12.06	1.94	0.492	-0.464	2.586	0.064	0.0521633707985	0.0015	0.00119808	0.0016	0.0031	0.0013	0	0.0007	0.0023	0.0058	0.0002	0.0007568	117	154602	rs200934454	0.0009	0.0009	0.0009	0.0009	0.0016	0.0009	0.0009	0.0013	0.0011	0.0016	0.0008	0.0015	0	1.967e-05	0.0006	0.0010	0.0010	0.0002	0.0010	0.0010	0.0010	0.0010	0.0015	0.0009	0.0008	0.0012	0.0010	0.0014	0	0.0015	0.0014	0	0	0	0.0008	0.0028	0.0008	0.024	0.47745	D	0.069	0.43913	T	0.964	0.55854	D	0.153	0.34292	B	0.197062	0.03292	N	1.619370	1	0.08975	N	1.39	0.34934	L	3.26	0.06681	T	-1.81	0.42575	N	0.06	0.03175	-1.0139	0.25688	T	0.015	0.05994	T	10	0.010006905	0.00224	T	0.052163	0.64960	D	0.064	0.18567	.	.	0.299427821978	0.29548	0.37678439900437627	0.37592	0.0445999662892	0.04821	0.485591411591	0.36828	T	0.005487	0.04941	T	-0.647555	0.00075	T	-0.721959	0.04702	T	0.0218345504367071	0.00890	T	0.669433	0.27806	T	0.044252295	0.07040	0.038043886	0.03587	0.044252295	0.07040	0.038043886	0.03587	-5.128	0.38201	T	.	.	0.084	0.09723	B	.	.	1.528869	0.19621	14.35	0.98132580480006526	0.38530	0.06190	0.12175	N	AEFDBI	0.211914	0.33765	N	-0.496268646924147	0.22203	1.183873	-0.642503900645031	0.18407	0.9831232	0.00102633286872558	0.08137	0.700653	0.57754	0	0.578056	0.33634	0	0.717052	0.78885	0	0.562822	0.20929	0	.	.	4.95	1.94	0.25058	-1.158000	0.03264	-1.596000	0.05094	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0958:0.1669:0.4428:0.2945	2.586	0.04538	835	0.38313	.	.	.	.	.	.	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	0.02381	385.98	34	chr7	4801671	.	G	A	385.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.800e-01;DP=735;ExcessHet=0.0000;FS=1.091;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=-1.198e+00;SOR=0.519	GT:AD:DP:GQ:PL	0/1:33,19:52:99:400,0,798	20	0	1	0
chr7	5313028	5313028	-	GAGGAT	exonic	TNRC18	.	nonframeshift insertion	TNRC18:NM_001080495:exon27:c.7862_7863insATCCTC:p.S2671_T2672insSS,	.	.	447	380	383	306	6	1001	0.566952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0170	0.0195	0.0098	0.0052	0	0.0151	0.0270	0.0187	0.0104591	1617	154602	rs768319122	0.0012	0.0023	0.0011	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0001	0.0008	4.831e-05	0	0.0001	0	0.0013	0.0010	0.0020	0.0010	0.0029	0.0012	0.0008	0.0017	0.0009	0.0008	0.0014	0.0013	0.0004	0	0.0007	0	0.0004	0	0	0.0017	0.0020	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	16164.21	33	chr7	5313028	.	G	T,GGAGGAT	16164.21	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-6.260e-01;DP=860;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=27,1;MLEAF=0.643,0.024;MQ=59.83;MQRankSum=0.00;QD=19.78;ReadPosRankSum=0.311;SOR=0.716	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,21,0:32:99:0|1:5313028_G_T:807,0,389,840,452,1291:5313028	0	6	14	0
chr7	6430565	6430565	T	G	exonic	DAGLB	.	nonsynonymous SNV	DAGLB:NM_139179:exon6:c.A844C:p.M282L,	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.651	P	0.116	B	0.000	D	1.000	D	1.87	L	0.88	T	-1.061	T	0.080	T	0.795	3.508	17.93	3.98	2.055	5.554	11.470	0.197	.	7.7e-05	0.00599042	0.0039	0	0.0003	0.0001	0	0	0	0.0279	0.0031177	482	154602	rs368662898	0.0015	0.0015	0.0008	0.0021	0.0233	0.0014	0.0014	0.0224	0.0221	0.0001	6.79e-05	0	0	0	0.0003	2.623e-05	0.0016	0.0233	0.0008	0.0008	0.0005	0.0010	0.0236	0.0007	0.0006	0.0201	0.0188	7.228e-05	0	6.564e-05	0	0	0	0	2.942e-05	0	0.0236	0.009	0.57480	D	0.031	0.53788	D	0.512	0.37351	P	0.102	0.30857	B	0.000000	0.84330	D	0.041945	0.999951	0.81001	D	2.16	0.60381	M	0.88	0.46412	T	-1.92	0.47683	N	0.73	0.73105	-1.0609	0.11532	T	0.080	0.31556	T	10	0.007727146	0.00175	T	.	.	.	0.197	0.47942	0.612	0.74535	0.312001716656	0.30816	0.7069166920994722	0.70633	0.0508659047656	0.05589	0.508673071861	0.40037	T	0.171103	0.51909	T	-0.239216	0.15449	T	-0.0967969	0.63645	T	0.0606021324751123	0.07263	T	0.882612	0.60317	D	0.41977805	0.62077	0.43101916	0.66733	0.41977805	0.62077	0.43101916	0.66733	-9.478	0.70722	D	.	.	0.206	0.50952	B	.;.	.;.	2.995884	0.40013	21.1	0.9637306883594704	0.29590	0.92000	0.54724	D	AEFDGBHCI	0.634867	0.61458	D	0.0988441823876177	0.46409	2.881648	0.192421464973082	0.49431	3.146352	0.999999988898378	0.74766	0.712529	0.81865	0	0.653731	0.59785	0	0.779548	0.98927	0	0.691587	0.68394	0	.	.	5.15	3.98	0.45383	5.583000	0.67179	.	.	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0745:0.0:0.9255	11.470	0.49508	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	0.02381	551.98	34	chr7	6430565	.	T	G	551.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.630e-01;DP=755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=-1.182e+00;SOR=0.708	GT:AD:DP:GQ:PL	0/1:27,25:52:99:566,0,625	20	0	1	0
chr7	7673314	7673319	AGCAGC	-	splicing	UMAD1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	16242.43	19	chr7	7673310	.	TAGCAGCAGC	T,TAGCAGCAGCAGC,TAGC,TAGCAGC,TAGCAGCAGCAGCAGCAGC,TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	16242.43	.	AC=16,7,3,1,1,1;AF=0.381,0.167,0.071,0.024,0.024,0.024;AN=42;BaseQRankSum=0.257;DP=845;ExcessHet=4.5793;FS=1.329;InbreedingCoeff=-0.2255;MLEAC=16,7,3,1,1,1;MLEAF=0.381,0.167,0.071,0.024,0.024,0.024;MQ=59.96;MQRankSum=0.00;QD=28.25;ReadPosRankSum=-2.670e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/2:6,0,13,0,0,0,0:19:99:406,424,621,0,198,158,424,621,198,621,424,621,198,621,621,424,621,198,621,621,621,424,621,198,621,621,621,621	1	3	5	0
chr7	17882834	17882834	G	A	exonic	SNX13	.	nonsynonymous SNV	SNX13:NM_001350870:exon6:c.C550T:p.L184F,	.	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.107	B	0.013	B	.	.	1.000	N	.	.	.	.	-1.030	T	0.041	T	0.032	1.848	12.14	-2.18	-0.534	-0.052	4.005	0.016	0.00136716752148	.	0.000199681	0.0018	0	0	0	0	0	0	0.0038	0.0001682	26	154602	rs551928493	0.0002	0.0002	0.0001	0.0003	0.0030	0.0002	0.0002	0.0026	0.0025	4.401e-05	4.142e-05	0	0	0	0.0002	1.101e-06	0.0002	0.0030	0.0001	0.0001	3.857e-05	0.0002	0.0037	8.664e-05	7.256e-05	0.0024	0.0020	4.816e-05	0	0	0	0	0	0	0	0	0.0037	0.859	0.02678	T	0.0	0.92824	D	0.107	0.26081	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	1.03	0.01350	N	0.112	0.09914	-1.0305	0.20292	T	0.041	0.17827	T	7	0.0041074753	0.00081	T	0.001367	0.01986	T	0.016	0.02506	0.245	0.17984	0.043077524339	0.03247	.	.	.	.	.	.	.	0.007859	0.07238	T	-0.677895	0.00049	T	-0.751763	0.03417	T	0.0162672268520536	0.00398	T	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.19760	B	.	.	0.733139	0.11023	7.681	0.98203551087723107	0.39140	0.01331	0.04588	N	AEFDGBI	0.037690	0.05221	N	-0.984594783992533	0.08931	0.4207384	-1.08249609659433	0.08044	0.393862	0.965181943819208	0.28813	0.475973	0.10046	0	0.547309	0.14657	0	0.654281	0.52657	0	0.528226	0.09195	0	.	.	2.07	-2.18	0.06643	0.183000	0.16729	-0.311000	0.10039	0.373000	0.20310	0.051000	0.21449	0.000000	0.08366	0.993000	0.69303	0.0:0.162:0.4866:0.3513	4.005	0.09084	593	0.68665	Phox-associated domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	603.33	34	chr7	17882834	.	G	A	603.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.082;DP=723;ExcessHet=0.0000;FS=2.110;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=9.14;ReadPosRankSum=-1.710e-01;SOR=0.700	GT:AD:DP:GQ:PL	0/1:40,26:66:99:617,0,1060	19	0	1	1
chr7	21589336	21589336	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon12:c.A2102G:p.N701S,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	17	1502	3	0	0	3	0.000997672	.	.	635988	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.49	T	0.98	D	0.721	P	0.006	N	0.901	D	.	.	0.64	T	-0.910	T	0.168	T	0.057	3.216	16.77	1.95	0.096	2.379	8.718	0.163	0.0150601566935	0.0003	0.000199681	7.459e-05	0.0008	0	0	0	0	0	6.058e-05	6.47e-05	10	154602	rs369770445	2.881e-05	2.941e-05	2.729e-05	3.033e-05	0.0009	2.157e-05	1.913e-05	0.0007	0.0006	0.0009	0	0	0	0	0	3.602e-06	9.966e-05	1.169e-05	0.0002	0.0002	0.0001	0.0003	0.0006	0.0001	0.0001	0.0005	0.0004	0.0006	0	0.0002	0	0	0	0	0	0.0005	0	0.084	0.32929	T	.	.	.	0.98	0.59353	D	0.721	0.54900	P	0.006120	0.01111	N	2.441830	0.901031	0.36172	D	2.235	0.63160	M	0.64	0.52867	T	-4.0	0.74051	D	0.346	0.40063	-0.9100	0.46854	T	0.168	0.50697	T	9	0.11117259	0.20808	T	0.01506	0.35570	T	0.163	0.42028	.	.	0.32082282376	0.31691	0.09428530162683015	0.09360	.	.	0.434895157814	0.29879	T	0.299547	0.67207	T	-0.497165	0.00593	T	-0.569951	0.15454	T	0.321959286928177	0.25901	T	0.872113	0.57861	D	0.16626261	0.36951	0.1956982	0.43261	0.16626261	0.36951	0.1956982	0.43260	-2.189	0.03987	T	.	.	0.071	0.03964	B	.;.;.	.;.;.	2.412593	0.31014	18.61	0.9968261463739222	0.79373	0.77913	0.38366	D	AEFBI	0.231166	0.35444	N	0.142722538504594	0.48468	3.058706	0.130152779438613	0.46098	2.861482	2.4190210058525E-5	0.03498	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.58	1.95	0.25130	1.992000	0.40357	1.913000	0.29659	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.7771:0.0:0.2229:0.0	8.718	0.33582	763	0.50172	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1100.98	34	chr7	21589336	.	A	G	1100.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=787;ExcessHet=0.0000;FS=3.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.53;SOR=0.738	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1115,0,1245	20	0	1	0
chr7	21738820	21738820	G	A	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon47:c.G7765A:p.V2589I,	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	252727	not_specified|Primary_ciliary_dyskinesia	MedGen:CN169374|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.38	T	0.194	B	0.045	B	0.000	N	0.939	D	.	.	0.91	T	-1.073	T	0.054	T	0.104	1.445	10.77	3.58	0.744	2.535	12.291	0.066	0.0151843148976	0.0023	0.00239617	0.0009	0.0098	0.0002	0.0002	0	2.406e-05	0	0.0002	0.0006015	93	154602	rs145239537	0.0003	0.0003	0.0003	0.0002	0.0086	0.0002	0.0002	0.0078	0.0075	0.0086	0.0005	0	0.0002	0	0.0005	2.256e-05	0.0005	8.325e-05	0.0020	0.0020	0.0021	0.0019	0.0068	0.0018	0.0017	0.0062	0.0059	0.0068	0	0.0005	0	0.0006	0	0	4.411e-05	0.0014	0	0.018	0.50676	D	0.044	0.49663	D	.	.	.	.	.	.	0.000350	0.45440	N	0.187138	0.938876	0.37241	D	.	.	.	0.91	0.44856	T	-0.93	0.24898	N	0.117	0.11197	-1.0735	0.08660	T	0.054	0.22808	T	9	0.006401092	0.00145	T	0.015184	0.35761	T	0.066	0.19193	.	.	0.307966526162	0.30417	0.20493431037537554	0.20410	.	.	0.282019138336	0.07775	T	0.121455	0.44442	T	-0.576393	0.00203	T	-0.59616	0.13137	T	0.020879130711342	0.00789	T	0.874113	0.58964	D	0.09559961	0.22502	0.25900918	0.51642	0.07169746	0.15892	0.35566837	0.61090	-7.407	0.56954	T	0.6542973083135797	0.72690	0.102	0.29505	B	.;.;.;.	.;.;.;.	2.521381	0.32578	19.09	0.97984630811011908	0.37356	0.88932	0.49105	D	AEFBI	0.144717	0.26774	N	-0.610246773492525	0.18635	0.9691027	-0.578394983894298	0.20057	1.078909	0.00434166819514416	0.10509	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.41	3.58	0.40133	2.369000	0.43884	5.742000	0.49579	-0.113000	0.14837	0.988000	0.36536	1.000000	0.68203	0.948000	0.49324	0.1419:0.0:0.8581:0.0	12.291	0.54137	867	0.32089	AAA+ ATPase domain;AAA+ ATPase domain;AAA+ ATPase domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	599.98	34	chr7	21738820	.	G	A	599.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.365e+00;DP=795;ExcessHet=0.0000;FS=2.036;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.33;ReadPosRankSum=-2.820e+00;SOR=0.434	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,29:72:99:0|1:21738820_G_A:614,0,1127:21738820	20	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	2015.4	153	chr7	27094574	.	GACCC	G	2015.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-1.128e+00;DP=1455;ExcessHet=1.1607;FS=134.511;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=2.43;ReadPosRankSum=1.51;SOR=10.150	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,35:228:99:0|1:27094574_GACCC_G:319,0,7053:27094574	16	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128,	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1814.7	153	chr7	27094578	.	C	CGGGG	1814.7	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.330e+00;DP=1572;ExcessHet=1.1607;FS=125.938;InbreedingCoeff=-0.1507;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=1.71;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:192,34:226:99:0|1:27094574_GACCC_G:315,0,7021:27094574	15	0	5	1
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	87514.16	141	chr7	27095695	.	C	T,*	87514.16	.	AC=39,2;AF=0.929,0.048;AN=42;BaseQRankSum=2.30;DP=3040;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=39,2;MLEAF=0.929,0.048;MQ=60.00;MQRankSum=0.00;QD=30.42;ReadPosRankSum=-1.188e+00;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,122,0:122:99:.:.:4199,366,0,4199,366,4199	0	18	1	0
chr7	27526309	27526309	C	T	exonic	HIBADH	.	nonsynonymous SNV	HIBADH:NM_152740:exon8:c.G916A:p.A306T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.063	B	0.082	B	0.000	D	1.000	D	2.16	M	1.21	T	-0.980	T	0.109	T	0.413	3.730	18.94	4.29	2.937	4.608	12.344	0.149	0.0142137816896	.	.	1.666e-05	0	0	0	0	3.017e-05	0	0	1.29e-05	2	154602	rs757064892	8.212e-06	8.893e-06	5.447e-06	1.101e-05	8.995e-06	4.38e-06	3.46e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.995e-06	3.313e-05	0	1.314e-05	1.313e-05	0	2.687e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0068	0	0	0	0.076	0.34269	T	0.054	0.47097	T	0.063	0.23376	B	0.082	0.29098	B	0.000000	0.84330	D	0.046961	1	0.81001	D	2.76	0.80626	M	1.21	0.37230	T	-3.32	0.66085	D	0.374	0.41557	-0.9797	0.35071	T	0.109	0.39320	T	10	0.34283915	0.51307	T	0.014214	0.34172	T	0.149	0.39377	0.677	0.81496	0.330069100803	0.32608	0.8314184113167277	0.83100	0.0726635100524	0.08142	0.607596158981	0.53976	T	0.258365	0.62951	T	-0.0617959	0.42626	T	-0.311056	0.43546	T	0.912802040576935	0.56884	D	0.891611	0.62654	D	0.62535787	0.74050	0.44749606	0.67827	0.62535787	0.74051	0.44749606	0.67827	-8.666	0.65523	D	.	.	0.277	0.51050	B	.	.	4.167138	0.62622	24.5	0.99726427171640852	0.82406	0.97222	0.73412	D	AEFDGBI	0.593210	0.58862	D	0.221944653545963	0.52263	3.401623	0.36700704410728	0.59539	4.132574	0.963454676188076	0.28692	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.16	4.29	0.50359	4.665000	0.61241	3.358000	0.37837	0.599000	0.40250	1.000000	0.71638	0.999000	0.35428	0.994000	0.71098	0.121:0.8147:0.0:0.0643	12.344	0.54437	779	0.47767	3-hydroxyisobutyrate dehydrogenase, NAD-binding domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1008.98	41	chr7	27526309	.	C	T	1008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.200e-01;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.52;ReadPosRankSum=0.616;SOR=0.614	GT:AD:DP:GQ:PL	0/1:28,37:65:99:1023,0,695	20	0	1	0
chr7	43624718	43624718	C	G	exonic	STK17A	.	nonsynonymous SNV	STK17A:NM_004760:exon7:c.C1121G:p.T374S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.013	B	0.006	B	0.033	N	1.000	D	0.205	N	-0.19	T	-1.042	T	0.109	T	0.182	2.035	12.76	3.72	0.900	6.175	12.521	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1842	462.95	111	chr7	43624718	.	C	G	462.95	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.585e+00;DP=2195;ExcessHet=2.5830;FS=236.492;InbreedingCoeff=-0.2524;MLEAC=7;MLEAF=0.184;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=0.806;SOR=12.602	GT:AD:DP:GQ:PL	0/1:48,29:82:99:108,0,926	12	0	7	2
chr7	44052885	44052885	G	C	exonic	DBNL	.	nonsynonymous SNV	DBNL:NM_001014436:exon4:c.G271C:p.D91H	.	.	426	1070	25	1	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	1.0	D	1.0	D	0.000	D	1.000	D	2.36	M	1.33	T	-0.188	T	0.396	T	0.866	3.578	18.23	5.33	2.505	7.756	14.682	0.377	.	0.0013	0.00499201	0.0035	0	0.0012	0.0004	0	0.0012	0.0058	0.0189	0.0030465	471	154602	rs139647339	0.0022	0.0022	0.0017	0.0028	0.0193	0.0022	0.0022	0.0185	0.0182	0.0002	0.0011	0.0002	0	1.882e-05	0.0085	0.0012	0.0022	0.0193	0.0015	0.0015	0.0012	0.0017	0.0215	0.0013	0.0012	0.0182	0.0169	0.0001	0	0.0018	0	0.0004	0	0	0.0011	0.0024	0.0215	0.213	0.20306	T	0.579	0.19362	T	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.89	0.83701	M	1.33	0.35031	T	-4.01	0.76254	D	0.855	0.87481	-0.1876	0.77989	T	0.396	0.74858	T	10	0.0092229545	0.00208	T	.	.	.	0.377	0.69527	.	.	0.804634121527	0.80281	0.8291163487985999	0.82869	2.22236575028	0.95846	0.762620568275	0.76320	T	0.529261	0.83680	D	-0.118421	0.33381	T	0.0720562	0.75047	D	0.122179954687555	0.14641	T	0.956971	0.90895	D	0.4046013	0.61050	0.34679255	0.60343	0.4046013	0.61050	0.34679255	0.60342	-11.653	0.83908	D	.	.	0.858	0.80211	P	.;.;.;.	.;.;.;.	4.455114	0.69291	25.4	0.99383301760627984	0.61979	0.95755	0.66016	D	AEFDGBHCI	0.962461	0.98406	D	0.410057472336601	0.61974	4.406109	0.398860132209106	0.61493	4.35035	0.999999982135241	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.33	5.33	0.75683	7.775000	0.84243	11.695000	0.94414	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.379000	0.26312	0.0:0.0:0.8542:0.1458	14.682	0.68635	698	0.58074	Actin-depolymerising factor homology domain|Actin-depolymerising factor homology domain|Actin-depolymerising factor homology 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	0.02381	1096.98	37	chr7	44052885	.	G	C	1096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=797;ExcessHet=0.0000;FS=0.880;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.25;ReadPosRankSum=-1.570e+00;SOR=0.889	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1111,0,715	20	0	1	0
chr7	44114181	44114181	A	0	exonic	AEBP1	.	.	.	.	.	0	89	99	37	1	174	0.492877	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	36873.42	35	chr7	44114181	.	A	G,*	36873.42	.	AC=18,1;AF=0.429,0.024;AN=42;BaseQRankSum=-9.170e-01;DP=2196;ExcessHet=0.0777;FS=0.000;InbreedingCoeff=0.3272;MLEAC=18,1;MLEAF=0.429,0.024;MQ=60.00;MQRankSum=0.00;QD=19.92;ReadPosRankSum=-2.890e-01;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,81,0:160:99:.:.:1882,0,1951,2119,2184,4302	8	5	7	0
chr7	47303192	47303192	G	A	exonic	TNS3	.	nonsynonymous SNV	TNS3:NM_022748:exon22:c.C3215T:p.T1072M,	.	.	415	1074	32	1	0	34	0.015582	.	.	722545	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.987	D	0.451	P	0.461	N	1.000	N	0.975	L	-3.07	D	0.180	D	0.746	D	0.309	2.966	15.89	5.66	2.662	3.561	15.243	0.270	.	0.0015	0.0061901	0.0055	0.0007	0.0016	0	0	0.0021	0.0048	0.0285	0.0047024	727	154602	rs181932240	0.0035	0.0035	0.0027	0.0043	0.0282	0.0034	0.0034	0.0272	0.0268	0.0004	0.0016	0.0018	0.0003	0.0001	0.0097	0.0020	0.0041	0.0282	0.0022	0.0022	0.0017	0.0027	0.0246	0.0020	0.0019	0.0211	0.0197	0.0004	0	0.0024	0.0017	0	9.407e-05	0.0034	0.0022	0.0019	0.0246	0.022	0.72154	D	0.01	0.65728	D	0.987	0.61912	D	0.451	0.46123	P	0.460844	0.12393	N	0.778290	1	0.08975	N	2.36	0.67893	M	-3.07	0.94210	D	-1.86	0.43524	N	0.209	0.23253	0.180	0.85565	D	0.746	0.91330	D	10	0.0038704276	0.00073	T	.	.	.	0.270	0.58507	.	.	0.67388624401	0.67112	0.29929116629727703	0.29842	.	.	0.456122934818	0.32780	T	0.114318	0.43205	T	-0.224378	0.17399	T	-0.0741295	0.65330	T	0.0345875563291198	0.02737	T	0.882012	0.60217	D	0.06315853	0.13269	0.1093954	0.26364	0.06315853	0.13268	0.1093954	0.26363	-4.834	0.34985	T	.	.	0.096	0.18539	B	.;.	.;.	3.491417	0.48808	22.7	0.99842830631907231	0.92316	0.59604	0.30961	D	AEFDBCI	0.175430	0.30260	N	0.293632324730734	0.55825	3.746639	0.329271446880366	0.57265	3.891775	0.999982189775115	0.51787	0.626454	0.40138	0	0.588066	0.40923	0	0.80507	0.99327	0	0.655142	0.61905	0	.	.	5.66	5.66	0.87293	4.417000	0.59573	4.222000	0.42599	0.676000	0.76740	0.979000	0.35152	0.992000	0.31684	0.962000	0.52141	0.0:0.0:1.0:0.0	15.243	0.73182	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	0.04762	2709.11	34	chr7	47303192	.	G	A	2709.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.12;DP=901;ExcessHet=0.1072;FS=8.785;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.54;ReadPosRankSum=-8.000e-03;SOR=0.357	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1627,0,1584	19	0	2	0
chr7	47829444	47829444	C	T	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.G6716A:p.C2239Y,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.738	P	0.103	B	0.024	N	1.000	N	0.895	L	2.22	T	-1.014	T	0.026	T	0.048	-2.070	0.006	-0.262	0.053	-0.599	4.608	0.010	0.0044892350538	.	.	0.0002	0	0	0	0	0	0.0011	0.0012	0.0001294	20	154602	rs766014822	6.998e-05	6.977e-05	3.686e-05	0.0001	0.0011	5.864e-05	5.473e-05	0.0009	0.0009	3.018e-05	0	0	0	0	0	3.601e-06	1.661e-05	0.0011	3.941e-05	3.937e-05	2.57e-05	5.374e-05	0.0012	1.715e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	0.045	0.40832	D	0.028	0.54934	D	0.738	0.42905	P	0.103	0.30945	B	0.023826	0.01600	N	2.145940	1	0.08975	N	0	0.06538	N	2.22	0.18248	T	-1.29	0.32387	N	0.048	0.01999	-1.0144	0.25529	T	0.026	0.11176	T	10	0.015786082	0.00331	T	0.004489	0.11031	T	0.010	0.01040	0.282	0.23801	0.698418770453	0.69581	0.1948917559509391	0.19407	0.158857962076	0.17927	0.35741764307	0.19009	T	0.018597	0.14967	T	-0.68678	0.00044	T	-0.809729	0.01671	T	0.054035204230495	0.06195	T	0.335866	0.07168	T	0.07078964	0.15623	0.10514722	0.25270	0.07078964	0.15622	0.10514722	0.25269	-3.427	0.15422	T	0.16328564489810982	0.20110	0.076	0.05845	B	.	.	-0.462775	0.01989	0.174	0.75174537500403749	0.10973	0.01859	0.05742	N	AEFDBI	0.044972	0.07300	N	-0.915232914438942	0.10486	0.5012868	-1.03957763837445	0.08925	0.4412999	0.999941351941964	0.47345	0.516011	0.20929	0	0.59043	0.45803	0	0.573078	0.19857	0	0.586402	0.36253	0	.	.	4.09	-0.262	0.12318	-0.658000	0.05429	-2.167000	0.04114	-1.618000	0.00872	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.3952:0.3818:0.223	4.608	0.11779	940	0.13648	.	.	.	.	.	.	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	1	0	0	0	0.02381	832.98	35	chr7	47829444	.	C	T	832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.524e+00;DP=1137;ExcessHet=0.0000;FS=1.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.92;ReadPosRankSum=1.05;SOR=0.447	GT:AD:DP:GQ:PL	0/1:49,35:84:99:847,0,1413	20	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W,	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.995	D	0.547	P	0.460	N	1.000	N	1.39	L	2.15	T	-1.059	T	0.048	T	0.465	2.843	15.47	1.54	0.218	0.068	6.370	0.080	0.00311672116924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.788e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.184	0.29056	T	0.995	0.67487	D	0.547	0.49095	P	0.460342	0.12399	N	0.747174	0.999995	0.08975	N	1.67	0.42885	L	2.15	0.19311	T	-2.36	0.52128	N	0.296	0.33469	-1.0591	0.11981	T	0.048	0.20672	T	10	0.36171162	0.52784	T	0.003117	0.06786	T	0.080	0.23350	0.552	0.66856	0.273070737957	0.26916	0.2536045200721503	0.25274	0.410098164805	0.41806	0.397005200386	0.24651	T	0.34704	0.71522	T	-0.171564	0.25000	T	-0.484216	0.23999	T	0.452246865480397	0.30879	T	0.463454	0.13490	T	0.08204342	0.18882	0.115264766	0.27824	0.08204342	0.18881	0.115264766	0.27823	-7.376	0.56735	T	0.21312292306990016	0.28611	0.462	0.62816	A	.	.	2.025831	0.25746	16.87	0.98535746284117109	0.42657	0.03107	0.08041	N	AEFDBI	0.085021	0.17234	N	-0.32621816442702	0.28156	1.55065	-0.474339133563733	0.22864	1.243968	0.99995617926297	0.48110	0.516011	0.20929	0	0.59043	0.45803	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	4.21	1.54	0.22290	0.128000	0.15636	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.003000	0.18671	0.870000	0.41412	0.3084:0.0:0.6916:0.0	6.370	0.20682	940	0.13648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	5979.44	105	chr7	47829596	.	G	C,A	5979.44	.	AC=17,3;AF=0.425,0.075;AN=40;BaseQRankSum=-3.700e-02;DP=2719;ExcessHet=43.6797;FS=321.470;InbreedingCoeff=-0.9530;MLEAC=18,3;MLEAF=0.450,0.075;MQ=60.00;MQRankSum=0.00;QD=2.79;ReadPosRankSum=-7.300e-02;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,60,0:120:99:.:.:626,0,731,787,898,1685	0	0	17	1
chr7	48103309	48103309	A	G	exonic	UPP1	.	nonsynonymous SNV	UPP1:NM_003364:exon6:c.A334G:p.I112V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.086	B	0.052	B	0.006	N	1.000	D	0.845	L	-2.14	D	-0.815	T	0.370	T	0.147	0.709	7.777	-4.68	-0.843	1.044	14.599	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	.	.	.	.	.	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	0.2368	964.53	38	chr7	48103309	.	A	G	964.53	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.089e+00;DP=1700;ExcessHet=4.7172;FS=113.804;InbreedingCoeff=-0.3130;MLEAC=10;MLEAF=0.263;MQ=59.98;MQRankSum=0.00;QD=1.11;ReadPosRankSum=0.721;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,23:83:99:0|1:48103308_C_G:182,0,1695:48103308	10	0	9	2
chr7	51065368	51065368	G	A	exonic	COBL	.	nonsynonymous SNV	COBL:NM_001346444:exon8:c.C1178T:p.T393I,	.	.	417	1103	2	0	0	2	0.000905797	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.991	T	0.061	T	0.03	0.479	6.600	-4.69	-1.591	0.096	0.776	0.035	0.00028236073052	.	.	0.0004	0	0.0053	0	0	0	0	0.0007	3.88e-05	6	154602	rs768017227	7.8e-05	6.839e-05	3.954e-05	0.0001	0.0006	5.874e-05	5.219e-05	0.0005	0.0004	0	0	0	0	5.905e-05	0.0005	0	0	0.0006	1.314e-05	1.313e-05	2.569e-05	0	0.0004	2.18e-06	8.2e-07	7.285e-05	3.027e-05	0	0	0	0	0	0	0	0	0	0.0004	0.017	0.51248	D	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.17	0.09627	N	0.057	0.02861	-0.9905	0.32475	T	0.061	0.25635	T	5	0.006623447	0.00150	T	2.82E-4	0.00018	T	0.035	0.08770	0.292	0.25400	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.604952	0.00136	T	-0.740305	0.03878	T	0.0314264008771409	0.02213	T	0.420658	0.11177	T	.	.	.	.	.	.	.	.	-3.994	0.23714	T	.	.	0.119	0.24396	B	.	.	0.433679	0.08038	4.761	0.89947748156734453	0.19244	0.00224	0.01258	N	AEFDBI	0.025683	0.01801	N	-1.03262312562789	0.07932	0.3702292	-1.29648715947604	0.04478	0.2113191	0.976775761302111	0.29756	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	2.34	-4.69	0.03061	-0.009000	0.12703	-0.004000	0.13159	-0.244000	0.07312	0.005000	0.17040	0.000000	0.08366	0.003000	0.05239	0.202:0.3322:0.1359:0.3299	0.776	0.00967	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	0.02381	2226.98	38	chr7	51065368	.	G	A	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=874;ExcessHet=0.0000;FS=2.739;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.060e-01;SOR=0.936	GT:AD:DP:GQ:PL	0/1:84,83:167:99:2241,0,2114	20	0	1	0
chr7	55846558	55846558	C	G	exonic	SEPTIN14	.	nonsynonymous SNV	SEPTIN14:NM_207366:exon3:c.G134C:p.R45T,	.	.	430	1048	39	5	0	49	0.0228438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.774	P	0.423	B	0.019	N	0.997	N	1.385	L	1.36	T	-1.062	T	0.058	T	0.218	2.230	13.41	2.38	0.431	0.472	7.127	0.044	.	0.0035	0.0071885	0.0075	0.0007	0.0022	0.0001	0.0142	0.0049	0.0089	0.0266	0.0067787	1048	154602	rs146350220	0.0064	0.0066	0.0057	0.0071	0.0256	0.0063	0.0063	0.0247	0.0244	0.0005	0.0012	0.0078	0	0.0149	0.0155	0.0051	0.0056	0.0256	0.0049	0.0049	0.0038	0.0060	0.0300	0.0046	0.0045	0.0261	0.0245	0.0014	0	0.0017	0.0092	0	0.0161	0.0102	0.0044	0.0043	0.0300	0.001	0.78490	D	0.002	0.79402	D	0.774	0.44062	P	0.423	0.45170	B	0.018620	0.27444	N	0.233204	0.996543	0.22981	N	1.995	0.54099	M	1.36	0.34452	T	-3.34	0.66325	D	0.52	0.55019	-1.0624	0.11166	T	0.058	0.24167	T	10	0.009386629	0.00212	T	.	.	.	0.044	0.11924	.	.	0.457377140028	0.45363	0.618325121068738	0.61765	0.199465451003	0.22341	0.36678853631	0.20370	T	0.088269	0.38122	T	-0.529448	0.00387	T	-0.514368	0.20867	T	0.0379570245532962	0.03324	T	0.970403	0.89360	D	0.22744139	0.45444	0.24017282	0.49385	0.22744139	0.45444	0.24017282	0.49384	-6.304	0.48754	T	.	.	0.162	0.35788	B	.	.	1.156355	0.15446	11.86	0.96980753890656735	0.31859	0.72568	0.35515	D	AEFI	0.273546	0.38893	N	-0.201172272507631	0.33086	1.873169	-0.286955453795462	0.28527	1.591315	3.33323393972252E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.4	2.38	0.28415	0.309000	0.19094	-2.270000	0.03971	0.587000	0.30956	0.616000	0.27880	0.000000	0.08366	0.634000	0.32262	0.0:0.6861:0.0:0.3139	7.127	0.24654	835	0.38313	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3418.68	34	chr7	55846558	.	C	G	3418.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.248e+00;DP=908;ExcessHet=0.3300;FS=0.904;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=0.713;SOR=0.633	GT:AD:DP:GQ:PL	0/1:51,47:98:99:1152,0,1322	18	0	3	0
chr7	72807358	72807358	T	G	splicing	TYW1B	NM_001145440:exon5:c.433-2A>C	.	.	.	.	428	1090	3	1	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	4.169e-05	0	8.672e-05	0	0	3.025e-05	0	0.0001	3.88e-05	6	154602	rs576322439	7.269e-05	7.251e-05	5.997e-05	8.556e-05	0.0024	6.129e-05	5.713e-05	0.0015	0.0012	0	6.721e-05	0	0	0	0.0024	4.418e-05	0.0002	0.0003	5.911e-05	5.906e-05	3.855e-05	8.061e-05	0.0001	3.076e-05	2.209e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0322469	0.47091	T	0.00805188	0.70856	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.389830	0.67742	25.1	0.98021536041537616	0.37635	0.94552	0.61536	D	AEFBI	.	.	.	.	.	.	.	.	.	0.996788655327289	0.35006	0.099367	0.02607	0	0.104858	0.03167	0	0.137589	0.03823	0	0.089874	0.02613	0	0.795427	0.47053	2.62	2.62	0.30337	6.951000	0.75784	7.340000	0.58244	0.512000	0.23348	1.000000	0.71638	1.000000	0.68203	0.300000	0.24500	0.0:0.0:0.0:1.0	9.815	0.40014	895	0.25842	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2283.98	155	chr7	72807358	.	T	G	2283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.470e-01;DP=3203;ExcessHet=0.0000;FS=3.643;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.71;MQRankSum=1.64;QD=9.28;ReadPosRankSum=0.608;SOR=0.920	GT:AD:DP:GQ:PL	0/1:148,98:246:99:2298,0,3853	20	0	1	0
chr7	76502389	76502389	A	G	exonic	DTX2	.	nonsynonymous SNV	DTX2:NM_001102596:exon5:c.A1181G:p.H394R	.	.	.	.	.	.	.	.	.	.	.	2353723	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.001	B	0.067	N	1.000	N	-1.61	N	-0.06	T	-0.995	T	0.051	T	0.16	-1.397	0.023	2.69	0.301	1.723	8.135	0.076	0.00787473415755	.	.	9.289e-05	0	8.78e-05	0.0001	0.0002	7.699e-05	0	0.0002	7.12e-05	11	154602	rs141623125	9.929e-05	0.0001	9.947e-05	9.912e-05	0.0009	8.587e-05	8.056e-05	0.0006	0.0006	2.988e-05	0.0001	0	0.0009	0.0001	0.0005	7.824e-05	6.628e-05	4.639e-05	0.0001	0.0001	0.0001	6.716e-05	0.0004	6.51e-05	5.321e-05	6.842e-05	3.34e-05	7.222e-05	0	0	0	0.0004	0.0003	0.0034	0.0001	0	0	0.974	0.02556	T	0.902	0.03795	T	0.0	0.02946	B	0.0	0.04355	B	0.067382	0.21744	N	0.451877	1	0.08975	N	-1.755	0.00319	N	-0.06	0.63568	T	3.76	0.00081	N	0.093	0.09349	-0.9946	0.31405	T	0.051	0.21650	T	10	0.034296215	0.01633	T	0.007875	0.20877	T	0.076	0.22200	.	.	0.577206278835	0.57390	0.45049109299130635	0.44967	0.124366561919	0.14002	0.305340260267	0.11202	T	0.155549	0.49733	T	-0.329129	0.06178	T	-0.506947	0.21630	T	0.0102298871563862	0.00139	T	0.0222978	0.00160	T	0.075239584	0.16938	0.07921575	0.17812	0.075239584	0.16938	0.07921575	0.17812	4.624	0.00005	T	.	.	0.046	0.00067	B	.;.;.;.;.	.;.;.;.;.	0.930271	0.13055	9.559	0.26141185377215981	0.01238	0.00772	0.03181	N	AEFBI	0.057735	0.10780	N	-1.29191418579742	0.03772	0.1690897	-1.08655882296389	0.07964	0.3895688	0.00102774976813255	0.08137	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	5.48	2.69	0.30923	1.449000	0.34734	3.449000	0.38434	-0.739000	0.03678	0.044000	0.21163	1.000000	0.68203	0.252000	0.23314	0.3847:0.0:0.6153:0.0	8.135	0.30208	905	0.23532	Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;Zinc finger, C3HC4 RING-type|Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	698.98	43	chr7	76502389	.	A	G	698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=946;ExcessHet=0.0000;FS=2.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.27;MQRankSum=-2.496e+00;QD=8.22;ReadPosRankSum=0.290;SOR=0.623	GT:AD:DP:GQ:PL	0/1:53,32:85:99:713,0,1337	20	0	1	0
chr7	85022533	85022533	G	T	exonic	SEMA3D	.	nonsynonymous SNV	SEMA3D:NM_152754:exon12:c.C1272A:p.H424Q	.	.	438	1075	9	0	0	9	0.0041686	.	.	514269	not_provided|Aganglionic_megacolon|SEMA3D-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0002029,Human_Phenotype_Ontology:HP:0002030,Human_Phenotype_Ontology:HP:0002251,Human_Phenotype_Ontology:HP:0002606,Human_Phenotype_Ontology:HP:0004391,MONDO:MONDO:0018309,MeSH:D006627,MedGen:C0019569,OMIM:PS142623,Orphanet:388|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.84	H	1.74	T	-0.631	T	0.163	T	0.953	3.076	16.27	0.088	0.072	1.520	10.595	0.866	0.32924875925	0.0035	0.00239617	0.0037	0.0007	0.0016	0	0.0024	0.0060	0.0066	0.0002	0.0037451	579	154602	rs141893504	0.0051	0.0051	0.0052	0.0049	0.0078	0.0050	0.0050	0.0060	0.0055	0.0011	0.0029	0.0139	0	0.0025	0.0078	0.0057	0.0064	0.0003	0.0042	0.0042	0.0046	0.0038	0.0064	0.0039	0.0038	0.0059	0.0057	0.0009	0	0.0040	0.0156	0	0.0028	0.0136	0.0064	0.0071	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	0.999927	0.51308	D	3.84	0.95699	H	1.74	0.26301	T	-7.79	0.95897	D	0.989	0.99670	-0.6307	0.63541	T	0.163	0.49963	T	10	0.10156855	0.18565	T	0.329249	0.91702	D	0.866	0.95949	0.9	0.97772	0.600852053967	0.59767	0.8530348867399894	0.85265	0.654022346849	0.58506	0.537249684334	0.44057	T	0.208846	0.56890	T	-0.0761959	0.40332	T	0.121499	0.78335	D	0.113648503036351	0.13798	T	0.810819	0.46223	T	0.9332991	0.94568	0.8581397	0.92052	0.937778	0.95021	0.8769396	0.93348	-7.685	0.58903	D	0.8674075455513135	0.92910	0.946	0.86464	P	.	.	3.442812	0.47899	22.5	0.99171538151022121	0.54412	0.82388	0.41623	D	AEFDGHCI	0.449854	0.50450	N	0.322134330545018	0.57287	3.895416	0.158465256724691	0.47593	2.987149	0.91064219591083	0.26345	0.706298	0.61202	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.67	0.088	0.13765	1.646000	0.36865	1.401000	0.26197	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.512:0.0:0.488:0.0	10.595	0.44521	913	0.21160	Sema domain|Sema domain|Sema domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1479.98	33	chr7	85022533	.	G	T	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.372;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-8.300e-02;SOR=0.688	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1494,0,1313	20	0	1	0
chr7	92447943	92447943	C	T	exonic	GATAD1	.	nonsynonymous SNV	GATAD1:NM_021167:exon1:c.C214T:p.P72S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	0.030	N	0.903	D	-0.625	N	-2.18	D	-0.770	T	0.232	T	0.048	1.664	11.52	3.07	2.206	2.416	1.159	0.230	0.890241675254	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	0.10838	T	0.651	0.06713	T	0.0	0.02946	B	0.0	0.01387	B	0.030361	0.25321	N	0.410879	0.903	0.36211	D	0.345	0.11182	N	-2.18	0.86722	D	-0.27	0.11366	N	0.14	0.13911	-0.7700	0.56857	T	0.232	0.59867	T	10	0.1668505	0.31145	T	0.890242	0.99168	D	0.230	0.53062	0.149	0.05238	0.158540857583	0.15491	0.1014007951340215	0.10071	0.303909260197	0.32711	0.845026016235	0.88861	D	0.002649	0.02045	T	-0.0442963	0.45310	T	-0.301405	0.44575	T	0.282532662153244	0.24277	T	0.526147	0.17328	T	0.054134626	0.10343	0.0863909	0.20013	0.054134626	0.10343	0.0863909	0.20012	-3.031	0.10519	T	0.06791209328016723	0.02426	0.051	0.00187	B	.	.	2.873154	0.37996	20.6	0.96476468468049859	0.29956	0.37876	0.25861	N	AEFDBHCI	0.068176	0.13438	N	-0.515991803041477	0.21562	1.145268	-0.313027697627024	0.27677	1.537515	0.999999993014996	0.74766	0.242642	0.04205	2	0.484254	0.07192	0	0.391439	0.06340	0	0.492483	0.08430	1	.	.	3.96	3.07	0.34476	2.527000	0.45275	3.618000	0.39276	0.596000	0.33519	0.984000	0.35821	0.997000	0.33255	0.540000	0.29938	0.1935:0.4315:0.1872:0.1879	1.159	0.01692	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	433.98	42	chr7	92447943	.	C	T	433.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.40;DP=759;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=-1.345e+00;SOR=1.179	GT:AD:DP:GQ:PL	0/1:16,15:31:99:448,0,530	20	0	1	0
chr7	93102964	93102964	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3134C:p.G1045A	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.278	B	0.057	B	0.039	N	0.999	N	0.55	N	2.78	T	-1.004	T	0.025	T	0.135	-1.573	0.014	0.721	0.204	1.133	8.086	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	1784.86	153	chr7	93102964	.	C	G	1784.86	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-6.633e+00;DP=3581;ExcessHet=9.6308;FS=118.636;InbreedingCoeff=-0.4288;MLEAC=12;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.78;ReadPosRankSum=0.355;SOR=12.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:167,34:204:99:.:.:268,0,6288	9	0	12	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.013	B	0.007	B	0.039	N	0.999	N	1.1	L	2.77	T	-1.040	T	0.033	T	0.114	0.260	5.406	-0.384	-0.014	1.650	6.198	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4524	3255.88	153	chr7	93102965	.	C	G	3255.88	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-5.671e+00;DP=4087;ExcessHet=36.0830;FS=132.372;InbreedingCoeff=-0.8389;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.452;SOR=13.128	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:167,40:207:99:.:.:293,0,6285	2	0	19	0
chr7	95495935	95495935	G	A	exonic	ASB4	.	nonsynonymous SNV	ASB4:NM_016116:exon2:c.G365A:p.C122Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	1.27	L	-0.16	T	-0.308	T	0.368	T	0.984	3.464	17.74	5.35	2.680	9.126	19.450	0.629	0.0664623861993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.77	0.45869	L	-0.16	0.65378	T	-10.46	0.99072	D	0.851	0.86511	-0.3077	0.74770	T	0.368	0.72795	T	10	0.8424064	0.83398	D	0.066462	0.69882	D	0.629	0.85718	0.6	0.73105	0.910858083179	0.90996	0.8912095576046916	0.89090	0.46589342076	0.46012	0.794030368328	0.81056	T	0.245159	0.61440	T	0.358541	0.87140	D	0.277243	0.86973	D	0.999905347824097	0.99629	D	0.853415	0.53896	D	0.9678284	0.98055	0.9687514	0.99410	0.9678284	0.98055	0.9687514	0.99410	-6.814	0.52663	T	.	.	0.903	0.83475	P	.;.	.;.	5.136206	0.85976	28.8	0.99666791081010342	0.78330	0.98828	0.87388	D	AEFGBI	0.962822	0.98454	D	0.69295400389064	0.79168	7.021606	0.671049683424988	0.80184	7.243384	0.999999999999727	0.74766	0.446893	0.09132	0	0.573078	0.20572	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.35	5.35	0.76297	9.252000	0.94679	11.887000	0.98989	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:1.0:0.0	19.450	0.94856	861	0.33516	.;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1785.98	44	chr7	95495935	.	G	A	1785.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.993e+00;DP=901;ExcessHet=0.0000;FS=1.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=-3.980e-01;SOR=0.830	GT:AD:DP:GQ:PL	0/1:56,70:126:99:1800,0,1502	20	0	1	0
chr7	100106665	100106665	-	CCCAGGGCC	exonic	AP4M1	.	nonframeshift insertion	AP4M1:NM_001363671:exon15:c.1166_1167insCCCAGGGCC:p.P396_S397insGPP	Spastic paraplegia 50, autosomal recessive, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.395e-06	0	0	0	0	0	0	6.069e-05	3.84e-05	1	26028	rs748636084	5.484e-06	5.472e-06	5.456e-06	5.511e-06	0.0002	2.36e-06	1.71e-06	2.194e-05	1.43e-05	0	0	0	0	0	0.0002	1.801e-06	0	5.797e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	437.94	34	chr7	100106665	.	T	TCCCAGGGCC	437.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.263;DP=732;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.10;ReadPosRankSum=0.266;SOR=0.663	GT:AD:DP:GQ:PL	0/1:17,12:29:99:452,0,678	20	0	1	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.012	N	1.000	N	-0.69	N	0.82	T	-1.039	T	0.045	T	0.096	1.174	9.778	2.18	0.152	0.340	7.051	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	15996.74	114	chr7	100175805	.	G	C	15996.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.177e+00;DP=2291;ExcessHet=54.0936;FS=322.385;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=7.42;ReadPosRankSum=0.978;SOR=13.359	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,41:84:99:0|1:100175805_G_C:474,0,1327:100175805	0	0	21	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	11054.86	98	chr7	100773851	.	A	G,*	11054.86	.	AC=6,31;AF=0.143,0.738;AN=42;DP=2409;ExcessHet=1.1607;FS=0.796;InbreedingCoeff=-0.1351;MLEAC=6,31;MLEAF=0.143,0.738;MQ=60.00;QD=4.79;SOR=0.612	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,120:120:99:1|1:100773849_CCAT_C:5339,5339,5339,361,361,0:100773849	0	1	0	0
chr7	100773854	100773854	G	0	exonic	ZAN	.	.	.	.	.	428	134	463	356	141	1316	0.814276	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	68137.53	98	chr7	100773854	.	G	GTT,*	68137.53	.	AC=31,6;AF=0.738,0.143;AN=42;BaseQRankSum=0.460;DP=2329;ExcessHet=1.1607;FS=0.793;InbreedingCoeff=-0.1351;MLEAC=31,6;MLEAF=0.738,0.143;MQ=60.00;MQRankSum=0.00;QD=29.50;ReadPosRankSum=0.812;SOR=0.625	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,120,0:120:99:1|1:100773849_CCAT_C:5339,361,0,5339,361,5339:100773849	0	11	5	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	358.48	781	chr7	100952945	.	C	*,A	358.48	.	AC=19,2;AF=0.452,0.048;AN=42;BaseQRankSum=1.12;DP=13562;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=19,2;MLEAF=0.452,0.048;MQ=58.45;MQRankSum=-8.589e+00;QD=0.03;ReadPosRankSum=1.76;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:455,141,76:672:99:0|1:100952942_T_G:4551,0,18681,2729,15914,21606:100952942	0	0	19	0
chr7	100953156	100953156	C	0	exonic	MUC3A	.	.	.	.	.	685	537	148	21	131	321	0.150316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	25169.59	570	chr7	100953156	.	C	T,*	25169.59	.	AC=6,16;AF=0.143,0.381;AN=42;BaseQRankSum=6.06;DP=11437;ExcessHet=43.6797;FS=8.756;InbreedingCoeff=-0.9091;MLEAC=6,16;MLEAF=0.143,0.381;MQ=57.66;MQRankSum=-1.630e+01;QD=2.22;ReadPosRankSum=-4.630e-01;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:397,80,128:605:99:0|1:100953098_G_C:4180,2016,18445,0,13311,16285:100953098	0	0	5	0
chr7	100953158	100953158	G	0	exonic	MUC3A	.	.	.	.	.	651	699	39	0	133	172	0.0271399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1141.98	562	chr7	100953158	.	G	*,T	1141.98	.	AC=18,2;AF=0.429,0.048;AN=42;BaseQRankSum=5.93;DP=11248;ExcessHet=43.6797;FS=14.318;InbreedingCoeff=-0.9091;MLEAC=18,2;MLEAF=0.429,0.048;MQ=57.68;MQRankSum=-1.628e+01;QD=0.11;ReadPosRankSum=-5.200e-01;SOR=1.607	GT:AD:DP:GQ:PL	0/1:399,121,54:598:99:3880,0,16390,2813,14486,19405	1	0	18	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	2681.5	334	chr7	100953225	.	G	A,*	2681.5	.	AC=9,3;AF=0.265,0.088;AN=34;BaseQRankSum=4.49;DP=8651;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=10,3;MLEAF=0.294,0.088;MQ=58.08;MQRankSum=-1.903e+01;QD=0.52;ReadPosRankSum=-5.501e+00;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:362,44,33:439:99:.:.:717,0,15273,444,13659,15929	5	0	9	4
chr7	100953371	100953371	C	0	exonic	MUC3A	.	.	.	.	.	991	251	197	25	58	305	0.329773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	122869.23	574	chr7	100953371	.	C	A,*	122869.23	.	AC=20,2;AF=0.476,0.048;AN=42;BaseQRankSum=-2.807e+00;DP=13314;ExcessHet=43.6797;FS=5.958;InbreedingCoeff=-0.9091;MLEAC=20,2;MLEAF=0.476,0.048;MQ=57.56;MQRankSum=-1.348e+01;QD=10.82;ReadPosRankSum=0.229;SOR=1.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:433,215,0:740:99:.:.:7724,0,17534,9028,18182,27209	0	0	19	0
chr7	100953490	100953490	G	0	exonic	MUC3A	.	.	.	.	.	745	492	219	17	49	302	0.204527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	36352.82	833	chr7	100953490	.	G	T,*	36352.82	.	AC=17,2;AF=0.405,0.048;AN=42;BaseQRankSum=-2.232e+00;DP=18586;ExcessHet=36.0830;FS=0.000;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.405,0.048;MQ=57.38;MQRankSum=-1.467e+01;QD=2.05;ReadPosRankSum=5.58;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:883,111,0:994:99:0|1:100953486_C_A:1972,0,36702,4630,37036,41666:100953486	2	0	17	0
chr7	100953494	100953494	C	0	exonic	MUC3A	.	.	.	.	.	798	546	139	16	23	194	0.135392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16936.68	834	chr7	100953494	.	C	A,*	16936.68	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=-9.240e-01;DP=18602;ExcessHet=14.4320;FS=0.762;InbreedingCoeff=-0.5000;MLEAC=10,4;MLEAF=0.238,0.095;MQ=57.31;MQRankSum=-8.273e+00;QD=1.27;ReadPosRankSum=-1.446e+00;SOR=0.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:911,68,0:979:68:0|1:100953487_C_A:68,0,37638,2810,37843,40653:100953487	7	0	10	0
chr7	100953548	100953548	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1769T:p.T590I,	.	.	874	413	160	24	51	259	0.201161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1357514460	0.0006	0.0062	0.0004	0.0007	0.0021	0.0005	0.0005	0.0013	0.0010	0.0003	0.0006	0.0002	4.417e-05	0.0005	0.0006	0.0006	0.0004	0.0021	2.746e-05	0.0091	1.343e-05	4.212e-05	0.0004	8.42e-06	5.33e-06	7.232e-05	3.008e-05	0	0	6.811e-05	0	0.0004	9.921e-05	0	0	0	0	.	.	.	0.033	0.53072	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.01421	.	.	.	.	.	.	.	0.117088854	0.22104	T	.	.	.	.	.	.	.	.	.	0.03503252016017476	0.03450	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.347765	0.07665	T	.	.	.	.	.	.	.	.	-7.218	0.55610	T	.	.	0.207	0.43352	B	.;.	.;.	1.622838	0.20726	14.88	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.220000	0.32095	0.001000	0.13291	0.470000	0.21925	0.001000	0.13787	0.000000	0.08366	0.044000	0.14658	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.4286	33287.25	909	chr7	100953548	.	C	G,T	33287.25	.	AC=15,3;AF=0.357,0.071;AN=42;BaseQRankSum=1.28;DP=19526;ExcessHet=30.0624;FS=0.819;InbreedingCoeff=-0.7477;MLEAC=15,3;MLEAF=0.357,0.071;MQ=55.79;MQRankSum=-8.386e+00;QD=1.94;ReadPosRankSum=3.82;SOR=0.845	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:920,91,0:1011:99:.:.:1052,0,38357,3821,38631,42452	3	0	15	0
chr7	100954158	100954158	C	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2379G:p.I793M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1293765468	2.331e-06	6.36e-06	0	4.289e-06	.	0	0	.	.	0	0	0	0	3.334e-05	0	0	0	0	0.0005	0.0039	0.0005	0.0005	0.0017	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0012	0	0.0011	0.0003	0	0.0004	0	0.0017	.	.	.	0.046	0.49120	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.08646	.	.	.	.	.	.	.	0.044038594	0.03318	T	.	.	.	.	.	.	.	.	.	0.018937706257390052	0.01847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244176	0.03564	T	.	.	.	.	.	.	.	.	-5.36	0.40533	T	.	.	0.125	0.26263	B	.;.	.;.	0.590388	0.09587	6.363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.012000	0.12637	-7.416000	0.01161	0.447000	0.21209	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.04762	643.11	375	chr7	100954158	.	C	G	643.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.213e+00;DP=8690;ExcessHet=0.1072;FS=1.024;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.39;MQRankSum=-9.995e+00;QD=0.63;ReadPosRankSum=0.168;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:492,42:534:99:0|1:100953979_G_C:283,0,20533:100953979	19	0	2	0
chr7	100954168	100954168	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C2389T:p.P797S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1405297788	4.764e-06	3.975e-05	0	8.796e-06	3.85e-06	7.9e-07	3e-07	.	.	0	0	0	0	3.373e-05	0	3.85e-06	0	0	0.0008	0.0049	0.0006	0.0009	0.0016	0.0006	0.0005	0.0007	0.0005	0.0005	0.0036	0.0016	0.0019	0.0014	0.0003	0	0.0006	0	0.0014	.	.	.	0.251	0.23707	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.02861	.	.	.	.	.	.	.	0.049508095	0.04550	T	.	.	.	.	.	.	.	.	.	0.059614147182007055	0.05901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39586	0.09952	T	.	.	.	.	.	.	.	.	-3.669	0.18861	T	.	.	0.158	0.34862	B	.;.	.;.	-0.053016	0.03930	0.872	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.780000	0.01872	-4.039000	0.02378	-0.380000	0.05395	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.04762	616.11	375	chr7	100954168	.	C	T	616.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.59;DP=8699;ExcessHet=0.1072;FS=1.028;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.48;MQRankSum=-1.006e+01;QD=0.60;ReadPosRankSum=-1.780e-01;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:494,43:537:99:0|1:100953979_G_C:319,0,20614:100953979	19	0	2	0
chr7	100954171	100954176	ACTACG	-	exonic	MUC3A	.	nonframeshift deletion	MUC3A:NM_005960:exon2:c.2392_2397del:p.T798_T799del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1173923186	2.375e-06	6.36e-06	0	4.386e-06	.	0	0	.	.	0	0	0	0	3.366e-05	0	0	0	0	0.0005	0.0040	0.0004	0.0005	0.0013	0.0003	0.0003	0.0006	0.0004	0.0003	0	0.0013	0.0007	0.0012	0.0003	0	0.0003	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	372.07	375	chr7	100954170	.	CACTACG	C	372.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.800e-01;DP=8735;ExcessHet=0.1072;FS=2.364;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=54.58;MQRankSum=-1.008e+01;QD=0.35;ReadPosRankSum=-1.200e-02;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:514,42:556:99:0|1:100953979_G_C:216,0,21456:100953979	19	0	2	0
chr7	100955012	100955012	G	A	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.G3233A:p.R1078K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.317e-06	0.0001	4.898e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	3.939e-05	0	8.995e-06	0.0019	0	1.83e-05	0.0003	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0003	.	.	.	0.126	0.35710	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.01740	.	.	.	.	.	.	.	0.07244828	0.10815	T	.	.	.	.	.	.	.	.	.	0.042076156409536575	0.04152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.251175	0.03802	T	.	.	.	.	.	.	.	.	-6.363	0.49220	T	.	.	0.154	0.34049	B	.;.	.;.	0.226431	0.06082	2.525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.247000	0.03004	-9.307000	0.00838	-0.269000	0.06763	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.3571	24713.07	719	chr7	100955012	.	G	C,A	24713.07	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-1.062e+00;DP=13307;ExcessHet=17.4423;FS=13.525;InbreedingCoeff=-0.5721;MLEAC=14,1;MLEAF=0.333,0.024;MQ=56.37;MQRankSum=-1.052e+01;QD=2.42;ReadPosRankSum=0.662;SOR=2.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:606,72,0:678:99:0|1:100954953_T_A:1183,0,25135,3007,25352,28359:100954953	6	0	14	0
chr7	100955586	100955586	T	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	47603.67	377	chr7	100955586	.	T	A,*	47603.67	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=-3.380e+00;DP=9878;ExcessHet=25.1139;FS=6.754;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.66;MQRankSum=-1.812e+01;QD=5.71;ReadPosRankSum=-7.510e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:396,130,0:526:99:0|1:100955586_T_A:4267,0,16237,5459,16628,22087:100955586	3	0	14	1
chr7	100955587	100955587	G	0	exonic	MUC3A	.	.	.	.	.	948	292	244	32	6	314	0.345291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	46737.11	377	chr7	100955587	.	G	C,*	46737.11	.	AC=14,3;AF=0.350,0.075;AN=40;BaseQRankSum=0.104;DP=9885;ExcessHet=25.1139;FS=6.502;InbreedingCoeff=-0.7143;MLEAC=14,3;MLEAF=0.350,0.075;MQ=57.65;MQRankSum=-1.817e+01;QD=5.55;ReadPosRankSum=-6.860e-01;SOR=1.281	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:395,130,0:525:99:0|1:100955586_T_A:4270,0,16195,5459,16586,22045:100955586	3	0	14	1
chr7	100955959	100955959	A	G	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.A4180G:p.T1394A,	.	.	768	680	56	1	17	75	0.0409027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1175400681	7.904e-05	0.0004	3.921e-05	0.0001	0.0008	5.602e-05	4.861e-05	0.0005	0.0004	0	5.076e-05	0.0003	0	0	0	2.158e-05	0.0001	0.0008	0.0006	0.0032	0.0006	0.0006	0.0031	0.0005	0.0005	0.0019	0.0015	0.0002	0.0025	0.0014	0.0009	0	9.978e-05	0.0040	0.0006	0.0020	0.0031	.	.	.	0.216	0.26306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.11744994	0.22181	T	.	.	.	.	.	.	.	.	.	0.03036875277365848	0.02985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.260974	0.04439	T	.	.	.	.	.	.	.	.	-7.243	0.55789	T	.	.	0.110	0.21125	B	.;.	.;.	0.622094	0.09905	6.665	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.465000	0.21715	-2.074000	0.04252	0.688000	0.82842	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	809	0.43032	.;.	.	.	.	.	.	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	0.4048	23255.17	557	chr7	100955959	.	ACC	A,GCC	23255.17	.	AC=15,2;AF=0.357,0.048;AN=42;BaseQRankSum=3.10;DP=16785;ExcessHet=25.1139;FS=4.174;InbreedingCoeff=-0.6800;MLEAC=15,2;MLEAF=0.357,0.048;MQ=57.02;MQRankSum=-1.169e+01;QD=1.66;ReadPosRankSum=-1.368e+00;SOR=1.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:829,68,0:897:99:.:.:360,0,34605,2855,34810,37665	4	0	15	0
chr7	100960582	100960582	T	0	exonic	MUC3A	.	.	.	.	.	0	9	197	0	20	217	0.916279	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	87422.78	564	chr7	100960582	.	T	A,*	87422.78	.	AC=15,6;AF=0.357,0.143;AN=42;BaseQRankSum=0.858;DP=12953;ExcessHet=54.0936;FS=0.000;InbreedingCoeff=-1.0000;MLEAC=15,6;MLEAF=0.357,0.143;MQ=60.00;MQRankSum=0.00;QD=6.90;ReadPosRankSum=0.163;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:370,121,116:607:99:0|1:100960582_T_A:5193,0,14818,100,11620,14945:100960582	0	0	15	0
chr7	101031852	101031852	G	A	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G436A:p.D146N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.055	B	0.002	B	.	.	1.000	N	0	N	4.12	T	-0.899	T	0.004	T	0.026	-0.033	3.844	-1.6	-0.187	0.102	2.938	0.017	0.0018202583031	7.7e-05	.	1.648e-05	0	0	0	0	1.499e-05	0	6.059e-05	1.29e-05	2	154602	rs371869918	9.577e-06	9.577e-06	5.445e-06	1.375e-05	2.319e-05	5.56e-06	4.35e-06	5.31e-06	3.88e-06	0	0	0	0	0	0	9.892e-06	1.656e-05	2.319e-05	6.576e-06	6.568e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.519	0.07283	T	.	.	.	0.055	0.22733	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.205	0.04094	N	4.12	0.02891	T	-0.39	0.13611	N	0.032	0.00825	-0.8995	0.48044	T	0.004	0.01365	T	9	0.044904232	0.03501	T	0.00182	0.03141	T	0.017	0.02790	.	.	0.0138822411134	0.00435	7.289559382807574E-4	0.00066	.	.	0.24266242981	0.03035	T	0.019119	0.15291	T	-0.516423	0.00461	T	-0.882728	0.00632	T	0.014417136272612	0.00290	T	0.39616	0.09972	T	0.026280316	0.01667	0.026029773	0.00672	0.026280316	0.01666	0.026029773	0.00672	-1.13	0.01155	T	.	.	0.086	0.10931	B	.	.	-0.157209	0.03316	0.577	0.31242077055126161	0.01750	0.00009	0.00143	N	AEFBI	0.021502	0.00964	N	-1.60768698272977	0.01226	0.05333949	-1.68418277469196	0.01208	0.05442813	1.97353634350858E-5	0.02871	0.497415	0.19182	0	0.59043	0.45803	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	0.801	-1.6	0.07977	-0.498000	0.06502	-3.653000	0.02629	-0.355000	0.05542	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.662:0.0:0.338:0.0	2.938	0.05464	830	0.39242	.	.	.	.	.	.	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	1	0	0	0	0.02381	3676.98	42	chr7	101031852	.	G	A	3676.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.735;DP=1292;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=-1.409e+00;SOR=0.839	GT:AD:DP:GQ:PL	0/1:165,144:309:99:3691,0,4451	20	0	1	0
chr7	101037015	101037015	A	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.A5599C:p.T1867P,	.	.	417	942	154	0	9	163	0.0755643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.985	D	0.429	B	.	.	1.000	N	0.895	L	4.26	T	-0.928	T	0.007	T	0.195	-0.397	2.141	-1.13	-0.266	1.153	3.858	0.088	.	.	0.048123	0.0050	0.0087	0.0080	0.0242	0.0021	0.0004	0.0056	0.0112	0.0093745	244	26028	rs201970250	0.0002	0.0003	0.0001	0.0002	0.0029	0.0002	0.0002	0.0024	0.0023	0.0002	0.0002	0	0.0029	3.966e-05	0	0	8.722e-05	0.0020	0.0002	0.0006	0.0002	0.0002	0.0013	0.0001	0.0001	0.0005	0.0003	0.0005	0	0.0002	0	0	0.0002	0	1.594e-05	0	0.0013	0.229	0.18371	T	.	.	.	0.985	0.61118	D	0.429	0.45365	B	.	.	.	.	1	0.08975	N	2.455	0.71248	M	4.26	0.02538	T	-1.07	0.27876	N	0.128	0.12198	-0.9277	0.44473	T	0.007	0.02518	T	9	0.003565222	0.00064	T	.	.	.	0.088	0.25558	.	.	0.0611884634855	0.05136	0.002191109293456971	0.00203	.	.	0.351847529411	0.18193	T	0.016686	0.13743	T	-0.60438	0.00137	T	-0.631531	0.10299	T	0.0159473787907998	0.00378	T	0.261374	0.04213	T	0.15294392	0.34692	0.075604185	0.16662	0.15294392	0.34692	0.075604185	0.16661	-6.419	0.49657	T	.	.	0.120	0.24800	B	.	.	0.701578	0.10706	7.397	0.14541750727747688	0.00324	0.01581	0.05150	N	AEFGBI	0.143396	0.26609	N	-0.779157462639097	0.13853	0.6855809	-1.02874192314484	0.09156	0.453968	4.52875406325812E-4	0.07036	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	0.824	-1.13	0.09274	0.592000	0.23685	-0.123000	0.11700	0.377000	0.20376	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.678:0.0:0.0:0.322	3.858	0.08490	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	0	0	0.09524	5841.15	510	chr7	101037015	.	A	AC,C	5841.15	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=-2.073e+00;DP=11424;ExcessHet=0.6776;FS=0.857;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=55.12;MQRankSum=-1.246e+01;QD=1.95;ReadPosRankSum=4.83;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:751,83,0:834:99:0|1:101037012_AG_A:1225,0,31185,3485,31435,34920:101037012	17	0	3	0
chr7	101037120	101037120	G	C	exonic	MUC17	.	nonsynonymous SNV	MUC17:NM_001040105:exon3:c.G5704C:p.A1902P,	.	.	0	224	1	0	1	2	0.00222717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.002	B	0.001	B	.	.	1.000	N	0	N	4.15	T	-0.936	T	0.004	T	0.119	-0.562	1.463	-2.38	-2.877	0.070	0.582	0.028	0.000372868786388	.	.	.	.	.	.	.	.	.	.	.	.	.	rs534983270	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0017	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.146	0.25055	T	.	.	.	0.002	0.09854	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	4.15	0.02815	T	-0.53	0.16393	N	0.092	0.07125	-0.9358	0.43272	T	0.004	0.01400	T	9	0.04352027	0.03210	T	3.73E-4	0.00054	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0035618229797968184	0.00333	.	.	0.377167761326	0.21854	T	0.018594	0.14961	T	-0.390221	0.02681	T	-0.798302	0.01945	T	0.0415485472037037	0.03973	T	0.30237	0.05722	T	0.051522315	0.09473	0.055376988	0.09701	0.051522315	0.09472	0.055376988	0.09700	-1.929	0.02924	T	.	.	0.107	0.19998	B	.	.	-0.528057	0.01779	0.136	0.28701115715954134	0.01487	0.01144	0.04144	N	AEFBCI	0.102213	0.20510	N	-1.91682976361911	0.00317	0.01361774	-2.01030059452484	0.00291	0.01286151	0.049397000236357	0.14803	0.487112	0.14033	0	0.59043	0.45803	0	0.59043	0.30614	0	0.564101	0.26826	0	.	.	1.19	-2.38	0.06243	-1.245000	0.03010	-12.170000	0.00545	-0.485000	0.05058	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3493:0.1789:0.2944:0.1774	0.582	0.00667	830	0.39242	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	58.33	510	chr7	101037120	.	G	C	58.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-4.963e+00;DP=10967;ExcessHet=0.0000;FS=2.450;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=58.79;MQRankSum=-2.831e+01;QD=0.07;ReadPosRankSum=-3.647e+00;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:799,59:858:72:0|1:101037101_C_G:72,0,33372:101037101	19	0	1	1
chr7	102352069	102352069	G	C	exonic	SPDYE6	.	nonsynonymous SNV	SPDYE6:NM_001146210:exon4:c.C666G:p.D222E,	.	.	628	887	7	0	0	7	0.00393038	.	.	2334523	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1229213880	0.0020	0.0027	0.0019	0.0021	0.0171	0.0019	0.0019	0.0127	0.0112	0.0011	0.0027	0.0229	0	0.0002	0.0171	0.0012	0.0045	0.0028	0.0026	0.0035	0.0023	0.0029	0.0069	0.0024	0.0023	0.0057	0.0053	0.0004	0	0.0069	0.0316	0	0.0005	0.0388	0.0015	0.0089	0.0064	.	.	.	0.003	0.76473	D	0.956	0.54666	P	0.742	0.55764	P	.	.	.	.	.	.	.	2.855	0.82945	M	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.3683995	0.53283	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.1795873168001415	0.17877	.	.	0.78449010849	0.79607	T	0.479663	0.80898	T	-0.0101359	0.50246	T	-0.252336	0.49585	T	.	.	.	0.929107	0.73907	D	0.20371732	0.42458	0.34103224	0.59848	0.20371732	0.42458	0.34103224	0.59848	-10.334	0.75887	D	.	.	0.876	0.81212	P	.	.	2.753762	0.36104	20.2	0.46087263666524492	0.03665	0.07735	0.13736	N	AEFI	.	.	.	.	.	.	.	.	.	7.56217457502011E-5	0.04552	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0828504	0.18924	0.453	0.453	0.15851	0.380000	0.20331	2.112000	0.30666	0.235000	0.18186	0.991000	0.37257	1.000000	0.68203	0.316000	0.24877	.	.	.	759	0.50631	.	.	.	.	.	.	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	0.025	131.48	41	chr7	102352069	.	G	C	131.48	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.398;DP=969;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0334;MLEAC=1;MLEAF=0.025;MQ=29.78;MQRankSum=-1.070e-01;QD=2.12;ReadPosRankSum=1.03;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,10:62:99:0|1:102352069_G_C:145,0,1478:102352069	19	0	1	1
chr7	102656303	102656303	C	G	exonic	SPDYE2;SPDYE2B	.	nonsynonymous SNV	SPDYE2:NM_001031618:exon5:c.C666G:p.D222E	.	.	25	200	1	0	0	1	0.00249377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.716	P	0.462	P	0.000	D	1.000	N	2.165	M	.	.	-0.980	T	0.121	T	0.213	1.165	9.740	.	0.107	0.993	.	0.079	.	.	.	0.0058	0.0005	0.0058	0	0	0.0089	0	0.0164	3.84e-05	1	26028	rs753676177	0.0011	0.0013	0.0010	0.0011	0.0083	0.0010	0.0009	0.0041	0.0030	0.0003	0.0018	0.0126	0	0.0002	0.0083	0.0007	0.0021	0.0012	0.0001	0.0003	7.478e-05	0.0002	0.0013	3.164e-05	1.676e-05	0.0002	9.462e-05	0	0	0.0013	0	0	0	0	0.0002	0	0	0.006	0.61437	D	0.003	0.76473	D	0.716	0.42206	P	0.462	0.46509	P	0.000007	0.62929	D	0.000000	1	0.08975	N	2.87	0.83286	M	.	.	.	-3.16	0.64710	D	0.342	0.38335	-0.9798	0.35048	T	0.121	0.42208	T	7	0.01031822	0.00230	T	.	.	.	0.079	0.23065	0.617	0.75116	0.0138822411134	0.00435	0.13142598813988937	0.13067	.	.	0.602129340172	0.53205	T	0.480468	0.80945	T	-0.114041	0.34102	T	-0.401588	0.33198	T	0.0660604729206122	0.08087	T	0.934707	0.75503	D	0.53583014	0.69162	0.28707716	0.54718	0.53583014	0.69163	0.28707716	0.54717	-10.242	0.75348	D	.	.	0.913	0.84083	P	.;.;.	.;.;.	2.339884	0.29987	18.30	0.97126119205308015	0.32477	0.04851	0.10585	N	AEFI	0.049676	0.08608	N	-0.451524660840506	0.23689	1.273843	-0.681665262607356	0.17419	0.9261545	1.0986060413411E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	.	.	.	0.284000	0.18624	0.663000	0.20521	0.267000	0.18475	0.998000	0.41325	0.999000	0.35428	0.067000	0.16453	.	.	.	491	0.76657	.;.;.	.	.	.	.	.	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	36.06	10	chr7	102656303	.	C	G	36.06	.	AC=2;AF=0.050;AN=40;BaseQRankSum=2.43;DP=233;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.0597;MLEAC=2;MLEAF=0.050;MQ=32.48;MQRankSum=-6.260e-01;QD=1.64;ReadPosRankSum=1.47;SOR=0.067	GT:AD:DP:GQ:PL	0/1:13,2:15:23:23,0,377	18	0	2	1
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.005	N	1.000	D	-0.515	N	0.26	T	-0.990	T	0.059	T	0.045	-0.292	2.603	3.61	1.478	0.025	7.418	0.102	0.00550950631605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.541	0.10678	T	0.0	0.02946	B	0.002	0.06944	B	0.004721	0.33446	N	0.207615	1	0.81001	D	-0.18	0.04256	N	0.26	0.59314	T	2.97	0.00304	N	0.088	0.06587	-0.9900	0.32601	T	0.059	0.24871	T	10	0.0402624	0.02580	T	0.00551	0.14197	T	0.102	0.29158	0.593	0.72247	0.630674063255	0.62765	0.32803734693529624	0.32716	0.23164822142	0.25718	0.39575278759	0.24477	T	0.001762	0.01186	T	-0.263963	0.12439	T	-0.616941	0.11426	T	0.0953304618597031	0.11836	T	0.758424	0.38228	T	0.07261241	0.16165	0.063943654	0.12744	0.07261241	0.16165	0.063943654	0.12743	-1.533	0.03110	T	.	.	0.084	0.33156	B	.;.	.;.	1.403225	0.18178	13.59	0.79853046318071419	0.12930	0.67709	0.33531	D	AEFDBIJ	0.199371	0.32618	N	-0.6476857485773	0.17528	0.9027043	-0.402716744649766	0.24916	1.367225	0.999999761740133	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	3.61	0.40494	0.038000	0.13749	0.020000	0.13575	0.676000	0.76740	0.830000	0.30133	0.455000	0.24973	0.993000	0.69303	0.1452:0.1381:0.7166:0.0	7.418	0.26231	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	849.76	35	chr7	102934282	.	G	C	849.76	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-5.273e+00;DP=2518;ExcessHet=1.7912;FS=177.018;InbreedingCoeff=-0.1745;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.346;SOR=11.212	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,15:124:59:.:.:59,0,3861	15	0	6	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.58	M	0.09	T	-0.079	T	0.414	T	0.931	4.705	26.1	4.65	1.469	7.967	14.775	0.686	0.102285869568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.642e-05	1.362e-06	1.376e-06	8.996e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000018	0.62929	D	0.000000	1	0.81001	D	2.48	0.72069	M	0.09	0.61443	T	-4.69	0.79743	D	0.866	0.91621	-0.0790	0.80575	T	0.414	0.76122	T	10	0.83823025	0.82978	D	0.102286	0.77566	D	0.686	0.88538	0.608	0.74063	0.884098710478	0.88296	0.8411723386298476	0.84077	1.02869255285	0.75355	0.595906376839	0.52327	T	0.053493	0.29459	T	0.351657	0.86616	D	0.267354	0.86441	D	0.998028337955475	0.93033	D	0.90001	0.65919	D	0.958163	0.97095	0.93957394	0.97739	0.958163	0.97095	0.93957394	0.97740	-8.842	0.66674	D	.	.	0.973	0.90137	P	.;.	.;.	4.615823	0.73244	26.0	0.99771405677723168	0.85918	0.99139	0.91801	D	AEFDBIJ	0.974099	0.99537	D	0.77679732466033	0.84635	8.343356	0.724224124696295	0.84219	8.231214	0.999999999999933	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.52	4.65	0.57626	8.066000	0.89276	4.610000	0.44033	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0697:0.0:0.9303:0.0	14.775	0.69347	455	0.79073	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	1847.14	124	chr7	102934283	.	G	C	1847.14	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-4.298e+00;DP=2977;ExcessHet=6.1002;FS=207.422;InbreedingCoeff=-0.3468;MLEAC=11;MLEAF=0.275;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.257;SOR=12.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:107,23:130:78:.:.:78,0,3860	10	0	10	1
chr7	105614066	105614066	G	C	exonic	ATXN7L1	.	nonsynonymous SNV	ATXN7L1:NM_138495:exon8:c.C1896G:p.D632E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.034	B	0.017	B	0.000	D	1.000	D	0.745	N	1.61	T	-1.047	T	0.041	T	0.188	-0.497	1.720	4.33	2.523	2.637	9.900	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1765	390.74	77	chr7	105614066	.	G	C	390.74	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-4.208e+00;DP=2407;ExcessHet=1.7912;FS=149.613;InbreedingCoeff=-0.2427;MLEAC=7;MLEAF=0.206;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=0.978;SOR=11.460	GT:AD:DP:GQ:PL	0/1:79,27:106:51:51,0,1833	11	0	6	4
chr7	107689054	107689054	T	C	exonic	SLC26A4	.	nonsynonymous SNV	SLC26A4:NM_000441:exon9:c.T1003C:p.F335L,	Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, Autosomal recessive;Pendred syndrome, Autosomal recessive	YES	1	1516	5	0	0	5	0.00164636	0.5408	0.332	19881	Pendred_syndrome|Autosomal_recessive_nonsyndromic_hearing_loss_4|not_provided|SLC26A4-related_disorder|Rare_genetic_deafness	MONDO:MONDO:0010134,MedGen:C0271829,OMIM:274600,Orphanet:705|MONDO:MONDO:0010933,MedGen:C3538946,OMIM:600791,Orphanet:90636|MedGen:C3661900|.|MedGen:C5680250,Orphanet:96210	reviewed_by_expert_panel	Likely_pathogenic	.	.	.	.	.	.	.	.	0.72	T	0.997	D	0.977	D	0.000	D	1.000	A	0.825	L	-2.65	D	0.228	D	0.708	D	0.928	3.084	16.30	5.62	2.140	6.446	15.825	0.858	0.15050117174	0.0012	0.000798722	0.0009	9.61e-05	0.0002	0.0002	0.0002	0.0008	0	0.0027	0.0008538	132	154602	rs111033212	0.0014	0.0014	0.0013	0.0014	0.0025	0.0013	0.0013	0.0022	0.0021	0.0001	4.473e-05	0.0011	5.04e-05	0.0001	0.0003	0.0015	0.0013	0.0025	0.0008	0.0008	0.0009	0.0008	0.0021	0.0007	0.0007	0.0011	0.0009	9.626e-05	0.0297	0.0002	0.0009	0	0	0	0.0011	0.0009	0.0021	0.727	0.03846	T	0.744	0.04912	T	0.997	0.70673	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.999429	0.47006	A	0.855	0.21307	L	-2.65	0.90210	D	-3.89	0.72820	D	0.714	0.71676	0.228	0.86373	D	0.708	0.89973	D	9	0.07919407	0.12713	T	0.150501	0.83218	D	0.858	0.95655	0.878	0.96734	0.97239640916	0.97209	0.8856395735242829	0.88532	0.0755267479925	0.08473	0.636854588985	0.58117	T	0.694664	0.91153	D	0.0539434	0.58850	T	0.299472	0.88174	D	0.102675847709179	0.12648	T	0.745225	0.36553	T	0.6494275	0.75333	0.6253157	0.78161	0.6466153	0.75184	0.58197755	0.75768	-3.388	0.14896	T	0.1892024969637232	0.24741	0.954	0.87315	P	.;.	.;.	4.662803	0.74439	26.2	0.99648405901556458	0.77130	0.99449	0.96169	D	AEFBI	0.808731	0.73242	D	0.436515050450158	0.63442	4.57802	0.493176228100971	0.67537	5.097294	0.999999306460853	0.74766	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.62	5.62	0.85714	6.637000	0.74162	7.937000	0.75328	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.825	0.78465	772	0.48957	SLC26A/SulP transporter domain;SLC26A/SulP transporter domain	.	.	.	.	.	Likely pathogenic	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2751.98	34	chr7	107689054	.	T	C	2751.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=926;ExcessHet=0.0000;FS=3.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.544;SOR=0.944	GT:AD:DP:GQ:PL	0/1:106,106:212:99:2766,0,2561	20	0	1	0
chr7	111122864	111122864	G	A	exonic	LRRN3	.	nonsynonymous SNV	LRRN3:NM_018334:exon2:c.G92A:p.R31Q	.	.	432	1085	4	1	0	6	0.00275735	.	.	699749	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.001	B	0.310	N	1.000	N	-0.145	N	-4.06	D	-0.491	T	0.358	T	0.259	-0.283	2.645	0.942	0.136	2.881	8.346	0.328	.	0.0002	0.00978435	0.0075	0.0003	0.0722	0.0064	0	0.0001	0.0011	0.0007	0.0072121	1115	154602	rs186329804	0.0024	0.0024	0.0027	0.0020	0.0609	0.0023	0.0023	0.0590	0.0582	0.0003	0.0609	3.827e-05	0.0114	0	0.0007	6.386e-05	0.0022	0.0006	0.0043	0.0043	0.0035	0.0051	0.0376	0.0040	0.0039	0.0351	0.0341	0.0006	0	0.0376	0	0.0062	0	0	0.0001	0.0043	0.0010	0.67	0.04561	T	0.62	0.07972	T	0.0	0.02946	B	0.001	0.04355	B	0.309509	0.14458	N	0.632628	0.999999	0.58761	D	-1.01	0.01154	N	-4.06	0.96529	D	0.33	0.03889	N	0.096	0.07673	-0.4910	0.68973	T	0.358	0.72061	T	10	0.0031238496	0.00052	T	.	.	.	0.328	0.65026	.	.	0.541484462481	0.53801	0.1035811217074937	0.10288	0.258577922938	0.28418	0.21241697669	0.00918	T	0.002311	0.01710	T	-0.328934	0.06192	T	-0.198153	0.54822	T	0.00234503173460957	0.00024	T	0.253675	0.06803	T	0.03389035	0.03698	0.03859036	0.03760	0.03389035	0.03698	0.03859036	0.03760	-3.509	0.16557	T	.	.	0.058	0.02257	B	.;.;.;.	.;.;.;.	1.316510	0.17203	13.02	0.84370985193853199	0.15253	0.32858	0.24687	N	AEFGBI	0.026781	0.02071	N	-0.770272381231916	0.14090	0.6990436	-0.558908261407429	0.20569	1.108814	3.45047923363698E-4	0.06626	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	0.942	0.18648	2.868000	0.48134	3.269000	0.37146	-0.046000	0.17342	0.998000	0.41325	0.978000	0.30204	0.988000	0.63387	0.6285:0.2443:0.1272:0.0	8.346	0.31437	628	0.65206	Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain;Leucine-rich repeat N-terminal domain|Leucine-rich repeat N-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2959.98	33	chr7	111122864	.	G	A	2959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.860e-01;DP=933;ExcessHet=0.0000;FS=0.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-1.450e-01;SOR=0.795	GT:AD:DP:GQ:PL	0/1:115,126:241:99:2974,0,2778	20	0	1	0
chr7	124032238	124032238	T	C	exonic	TMEM229A	.	nonsynonymous SNV	TMEM229A:NM_001136002:exon1:c.A766G:p.I256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.394	B	0.12	B	.	.	0.905	N	0.255	N	1.18	T	-1.045	T	0.043	T	0.229	3.319	17.16	4.26	0.872	2.646	9.465	0.028	0.00309682352866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.781	0.03280	T	0.592	0.08161	T	0.394	0.34702	B	0.12	0.32230	B	.	.	.	.	0.905131	0.27622	N	0.81	0.20779	L	1.18	0.37746	T	0.3	0.04091	N	0.102	0.08506	-1.0447	0.15913	T	0.043	0.18451	T	9	0.08238995	0.13593	T	0.003097	0.06726	T	0.028	0.06331	0.306	0.27646	0.0884992946249	0.08302	0.5384612323208492	0.53771	.	.	0.549685418606	0.45813	T	0.019	0.15464	T	-0.165	0.25994	T	-0.474787	0.25003	T	0.396950924387161	0.28827	T	0.730627	0.34608	T	0.09667316	0.22774	0.14163347	0.33721	0.09667316	0.22774	0.14163347	0.33720	-1.938	0.02956	T	.	.	0.222	0.45323	B	.	.	2.108335	0.26829	17.25	0.91703689414627898	0.20998	0.47574	0.28013	N	AEFBCI	0.167188	0.29384	N	-0.287457512271222	0.29631	1.644968	-0.111154528697024	0.34940	2.015554	0.999416261887452	0.39577	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	5.43	4.26	0.49832	2.136000	0.41744	4.125000	0.41997	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1789:0.8211	9.465	0.37973	832	0.38914	.	.	.	.	.	.	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	0.05	66.04	136	chr7	124032238	.	T	C	66.04	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.801e+00;DP=1811;ExcessHet=0.1072;FS=124.830;InbreedingCoeff=-0.0698;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=1.53;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:100,26:126:39:.:.:39,0,1975	18	0	2	1
chr7	126533844	126533844	G	A	exonic	GRM8	.	nonsynonymous SNV	GRM8:NM_001371087:exon8:c.C923T:p.A308V	.	.	.	.	.	.	.	.	.	.	.	735927	GRM8-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.32	T	0.012	B	0.004	B	0.000	D	1.000	D	0.21	N	-2.47	D	-0.433	T	0.390	T	0.349	1.894	12.29	5.8	2.758	3.272	19.043	0.247	0.024164168627	0.0015	0.00219649	0.0005	0.0058	0.0003	0	0	0	0	6.107e-05	0.0004981	77	154602	rs112220743	0.0002	0.0002	0.0002	0.0001	0.0055	0.0001	0.0001	0.0049	0.0046	0.0055	0.0002	0	0	0	0.0003	6.296e-06	0.0003	8.116e-05	0.0014	0.0014	0.0015	0.0013	0.0049	0.0012	0.0012	0.0043	0.0041	0.0049	0	0.0003	0	0	0	0	1.471e-05	0.0009	0.0002	0.265	0.16305	T	0.343	0.17857	T	0.001	0.16265	B	0.004	0.10090	B	0.000133	0.49741	D	0.213974	0.785998	0.34326	D	-0.86	0.01466	N	-2.47	0.88997	D	-1.14	0.29323	N	0.341	0.38232	-0.4329	0.70971	T	0.390	0.74466	T	10	0.013761938	0.00291	T	0.024164	0.47155	T	0.247	0.55478	.	.	0.585140355757	0.58187	0.13829255642812197	0.13753	0.198405690804	0.22219	0.444835007191	0.31238	T	0.168524	0.51555	T	-0.313999	0.07401	T	-0.221063	0.52635	T	0.0282294724159011	0.01722	T	0.754824	0.38541	T	0.3054834	0.53392	0.30173382	0.56206	0.3054834	0.53392	0.30173382	0.56205	-3.58	0.18161	T	.	.	0.076	0.06849	B	.;.;.	.;.;.	2.254972	0.28807	17.92	0.98161289739898705	0.38772	0.66168	0.32985	D	AEFBI	0.351342	0.44448	N	-0.379645174746298	0.26195	1.427793	-0.217442252574627	0.30910	1.744548	0.991455111351703	0.32494	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	3.309000	0.51613	10.031000	0.83167	0.665000	0.62972	0.375000	0.25965	1.000000	0.68203	0.462000	0.28163	0.0:0.0:1.0:0.0	19.043	0.92990	831	0.39019	GPCR, family 3, nine cysteines domain;.;GPCR, family 3, nine cysteines 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	0.02381	1191.98	34	chr7	126533844	.	G	A	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.900e-01;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-1.558e+00;SOR=0.646	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1206,0,1387	20	0	1	0
chr7	127701190	127701190	T	G	exonic	SND1	.	nonsynonymous SNV	SND1:NM_014390:exon5:c.T456G:p.C152W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.733	P	0.276	B	0.000	D	1.000	D	0.805	L	1.59	T	-1.123	T	0.025	T	0.607	3.175	16.63	2.63	0.579	0.810	7.838	0.192	0.0116118102047	0.0005	0.00199681	0.0002	0.0020	0.0003	0	0	0	0	0.0002	0.0002393	37	154602	rs144408630	8.004e-05	8.003e-05	9.121e-05	6.876e-05	0.0023	6.801e-05	6.355e-05	0.0019	0.0017	0.0023	0.0002	0	0	0	0	0	0.0003	0.0001	0.0004	0.0004	0.0005	0.0004	0.0015	0.0004	0.0003	0.0012	0.0011	0.0015	0	0.0002	0	0	0	0	0	0.0005	0	0.001	0.78490	D	0.003	0.76473	D	0.733	0.42736	P	0.276	0.40142	B	0.000009	0.62929	D	0.180987	0.999998	0.58761	D	0.695	0.17993	N	1.59	0.28836	T	-2.38	0.52451	N	0.522	0.55193	-1.1234	0.02127	T	0.025	0.10509	T	10	0.0111745	0.00245	T	0.011612	0.29407	T	0.192	0.47115	.	.	0.174091166621	0.17034	0.8547043217059073	0.85433	1.61877923899	0.89039	0.672002911568	0.63123	T	0.075851	0.35277	T	-0.378469	0.03185	T	-0.335436	0.40860	T	0.080281358272747	0.10023	T	0.944706	0.79020	D	0.75331795	0.81061	0.52584404	0.72605	0.75331795	0.81063	0.52584404	0.72606	-11.005	0.79686	D	.	.	0.231	0.46343	B	.	.	3.106154	0.41883	21.4	0.98911489528848628	0.48381	0.79004	0.39069	D	AEFBI	0.579503	0.58029	D	-0.01278059098565	0.41278	2.466079	0.0701120725334017	0.43056	2.615203	0.805340639544485	0.24260	0.719381	0.83141	0	0.724815	0.89359	0	0.702456	0.68683	0	0.733575	0.97253	0	.	.	6.16	2.63	0.30420	0.833000	0.27157	0.303000	0.17000	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.999000	0.91618	0.0:0.2439:0.0:0.7561	7.838	0.28546	441	0.80015	Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold|Staphylococcal nuclease (SNase-like), OB-fold	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1508.98	34	chr7	127701190	.	T	G	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.31;DP=822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=-6.940e-01;SOR=0.760	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1523,0,1429	20	0	1	0
chr7	129203555	129203555	G	A	exonic	SMO	.	nonsynonymous SNV	SMO:NM_005631:exon2:c.G503A:p.R168H,	Basal cell carcinoma, somatic;Curry-Jones syndrome, somatic mosaic	.	430	1061	29	2	0	33	0.0153132	.	.	139005	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.768	P	0.372	B	0.000	D	0.954	D	1.8	L	-1.34	T	-0.225	T	0.322	T	0.227	4.281	22.4	4.43	2.584	4.784	8.401	0.426	.	0.0021	0.00958466	0.0095	0.0004	0.0013	0	0.0002	0.0032	0.0158	0.0532	0.0069339	1072	154602	rs61746143	0.0047	0.0047	0.0032	0.0061	0.0462	0.0046	0.0045	0.0450	0.0445	0.0005	0.0017	0.0053	0	0.0006	0.0153	0.0020	0.0048	0.0462	0.0030	0.0030	0.0022	0.0038	0.0458	0.0028	0.0027	0.0408	0.0389	0.0002	0	0.0023	0.0078	0.0004	0	0.0068	0.0024	0.0014	0.0458	0.007	0.59928	D	0.018	0.59732	D	0.768	0.43819	P	0.372	0.43610	B	0.000012	0.62929	D	0.099149	0.954403	0.37876	D	1.64	0.41913	L	-1.34	0.79944	T	-3.08	0.63323	D	0.36	0.40164	-0.2252	0.77013	T	0.322	0.69056	T	10	0.017337203	0.00370	T	.	.	.	0.426	0.73372	.	.	0.856339808068	0.85495	0.4635699264073164	0.46275	1.68521837868	0.90051	0.456530988216	0.32835	T	0.787159	0.94435	D	-0.362033	0.04016	T	-0.260677	0.48757	T	0.0523352547188831	0.05905	T	0.89581	0.63671	D	0.26048836	0.49105	0.115611814	0.27908	0.3058411	0.53423	0.115611814	0.27907	-6.068	0.46844	T	.	.	0.094	0.14293	B	.	.	5.101587	0.85237	28.5	0.99953317081244297	0.99957	0.66007	0.32930	D	AEFDBI	0.238549	0.36065	N	0.434301182156193	0.63319	4.563295	0.492786399810357	0.67511	5.093808	0.999239072247611	0.38840	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.5	4.43	0.52967	5.280000	0.65411	8.352000	0.77014	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.181:0.0:0.819:0.0	8.401	0.31747	714	0.56256	Frizzled domain|Frizzled domain|Frizzled 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	0.04762	2768.11	33	chr7	129203555	.	G	A	2768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-8.400e-01;DP=834;ExcessHet=0.1072;FS=0.622;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.68;ReadPosRankSum=-6.530e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:22,64:86:99:1731,0,498	19	0	2	0
chr7	129463042	129463042	T	C	splicing	STRIP2	NM_020704:exon14:c.1551+2T>C;NM_001134336:exon14:c.1551+2T>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.674	18.67	5.28	1.988	7.988	14.385	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1279608116	2.056e-06	2.052e-06	2.727e-06	1.377e-06	1.162e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275189	0.80900	D	0.157513	0.80652	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.231283	0.87810	29.4	0.99550696615023981	0.71148	0.97096	0.72666	D	AEFDBCI	.	.	.	1.06258030862099	0.97376	16.025	0.888737771522377	0.95063	13.27848	0.999999999696464	0.74766	0.099367	0.02607	0	0.060609	0.00678	0	0.121303	0.03266	0	0.117559	0.03655	0	0.893872	0.56110	5.28	5.28	0.74118	7.778000	0.84271	7.921000	0.74526	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.868000	0.41282	0.0:0.0:0.0:1.0	14.385	0.66504	691	0.58815	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	733.98	40	chr7	129463042	.	T	C	733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.86;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-1.773e+00;SOR=0.582	GT:AD:DP:GQ:PL	0/1:41,28:69:99:748,0,1049	20	0	1	0
chr7	130185190	130185190	A	G	splicing	TMEM209	NM_001363478:exon7:c.948+2T>C;NM_032842:exon7:c.951+2T>C;NM_001301163:exon7:c.951+2T>C	.	.	.	.	433	1067	22	0	0	22	0.0102041	0.9959	0.674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.949	20.2	5.68	2.289	8.809	13.963	.	.	0.0041	0.00539137	0.0062	0.0007	0.0015	0.0001	0.0118	0.0046	0.0090	0.0201	0.0057308	886	154602	rs118139998	0.0062	0.0062	0.0057	0.0067	0.0199	0.0061	0.0060	0.0191	0.0188	0.0007	0.0020	0.0019	2.526e-05	0.0108	0.0084	0.0056	0.0062	0.0199	0.0040	0.0040	0.0036	0.0043	0.0209	0.0037	0.0036	0.0176	0.0164	0.0009	0	0.0024	0.0014	0	0.0103	0	0.0044	0.0066	0.0209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0700465	0.60856	D	0.342777	0.90029	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.252511	0.88193	29.5	0.9952540508935056	0.69530	0.99644	0.98286	D	AEFGBI	.	.	.	1.15176093975212	0.98982	20.14099	1.00463741609727	0.98715	19.12841	0.999999988099062	0.74766	0.163922	0.03765	0	0.156668	0.03792	0	0.137589	0.03823	0	0.09929	0.02979	0	0.977973	0.81886	5.68	5.68	0.88021	8.766000	0.91379	11.208000	0.89295	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.790000	0.37311	1.0:0.0:0.0:0.0	13.963	0.63704	.	.	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1230.98	33	chr7	130185190	.	A	G	1230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.918;DP=789;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=-1.121e+00;SOR=0.684	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1245,0,1076	20	0	1	0
chr7	131556276	131556276	-	GGCGAC	exonic	PODXL	.	nonframeshift insertion	PODXL:NM_001018111:exon1:c.83_84insGTCGCC:p.S31_Q32insPS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	24221.88	24	chr7	131556270	.	GGGCGAC	G,GGGCGACGGCGAC	24221.88	.	AC=15,13;AF=0.357,0.310;AN=42;BaseQRankSum=0.430;DP=932;ExcessHet=0.0019;FS=0.000;InbreedingCoeff=0.5714;MLEAC=15,13;MLEAF=0.357,0.310;MQ=60.00;MQRankSum=0.00;QD=33.09;ReadPosRankSum=0.348;SOR=0.686	GT:AD:DP:GQ:PL	1/1:0,16,0:16:48:720,48,0,720,48,720	5	3	3	0
chr7	134210190	134210190	G	T	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon16:c.G3330T:p.Q1110H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.952e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999331	0.21346	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116660744	0.22012	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183282	0.01882	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.150	0.33063	B	.	.	0.238339	0.06189	2.638	0.58930440870872591	0.06106	0.20130	0.20926	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999991648724217	0.74766	0.162113	0.03585	0	0.096583	0.02683	0	0.175069	0.04249	0	0.10565	0.03146	0	0.0451697	0.04216	5.29	4.35	0.51454	0.883000	0.27838	0.403000	0.18023	-0.264000	0.06851	0.002000	0.15269	0.000000	0.08366	0.004000	0.06068	0.116:0.0:0.884:0.0	8.8	0.34062	877	0.30165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	35.4	75	chr7	134210190	.	G	T	35.4	.	AC=2;AF=0.071;AN=28;DP=75;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2464;MLEAC=2;MLEAF=0.071;MQ=60.00;QD=17.70;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	13	1	0	7
chr7	140091845	140091845	G	A	exonic	KDM7A	.	nonsynonymous SNV	KDM7A:NM_030647:exon19:c.C2690T:p.P897L,	.	.	9	1452	60	1	0	62	0.0209036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.317	B	0.018	B	0.000	D	1.000	D	1.04	L	2.61	T	-1.084	T	0.021	T	0.569	3.255	16.92	5.8	2.732	6.155	18.224	0.095	.	0.0020	0.00559105	0.0042	0.0002	0.0011	0.0003	0.0006	0.0028	0.0033	0.0184	0.0039003	603	154602	rs192601953	0.0026	0.0026	0.0021	0.0031	0.0179	0.0026	0.0025	0.0171	0.0168	0.0003	0.0010	0.0001	0.0002	0.0007	0.0117	0.0017	0.0033	0.0179	0.0019	0.0020	0.0019	0.0020	0.0158	0.0018	0.0017	0.0129	0.0118	0.0002	0	0.0015	0	0.0006	0.0003	0.0204	0.0025	0.0024	0.0158	0.013	0.53900	D	0.166	0.30828	T	0.317	0.32920	B	0.018	0.18489	B	0.000021	0.55875	D	0.121838	1	0.81001	D	1.745	0.45235	L	2.61	0.13095	T	-1.37	0.33998	N	0.339	0.38027	-1.0844	0.06517	T	0.021	0.08917	T	10	0.005435258	0.00120	T	.	.	.	0.095	0.27398	.	.	0.082315109003	0.07666	0.30939651663886614	0.30852	0.304573988704	0.32764	0.685567378998	0.65068	T	0.02937	0.21062	T	-0.428501	0.01513	T	-0.374008	0.36421	T	0.0226783854346548	0.00986	T	0.89971	0.64861	D	0.13407205	0.31163	0.17044519	0.39155	0.13407205	0.31162	0.17044519	0.39154	-3.286	0.13558	T	.	.	0.153	0.33868	B	.	.	4.419976	0.68456	25.2	0.98970276715049565	0.49520	0.96906	0.71586	D	AEFGBI	0.669212	0.63672	D	0.187533030493372	0.50600	3.248455	0.371443162631876	0.59808	4.162137	0.999959655437087	0.48110	0.562547	0.31514	0	0.588015	0.36545	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.8	5.8	0.92081	5.765000	0.68486	8.665000	0.77987	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.224	0.89845	906	0.23090	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4491.11	35	chr7	140091845	.	G	A	4491.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.24;DP=1048;ExcessHet=0.1072;FS=3.342;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.92;SOR=0.707	GT:AD:DP:GQ:PL	0/1:94,84:178:99:2257,0,2315	19	0	2	0
chr7	141764334	141764334	T	C	exonic	TAS2R3	.	nonsynonymous SNV	TAS2R3:NM_016943:exon1:c.T176C:p.L59P,	.	.	406	1115	1	0	0	1	0.000448229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.985	D	0.001	D	1.000	D	3.305	M	5.5	T	-1.216	T	0.018	T	0.811	2.330	13.75	4.96	2.371	1.841	10.626	0.213	0.0121487170626	.	.	1.647e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765207006	1.984e-05	1.984e-05	9.528e-06	3.025e-05	0.0003	1.392e-05	1.203e-05	0.0002	0.0002	0	0	0	0	0	0.0003	0	1.656e-05	0.0003	1.314e-05	1.313e-05	0	2.689e-05	0.0004	2.18e-06	8.2e-07	7.287e-05	3.028e-05	0	0	0	0	0	0	0	0	0	0.0004	0.001	0.78490	D	0.008	0.67890	D	0.999	0.77913	D	0.985	0.76457	D	0.000987	0.40743	D	0.094520	0.999719	0.48481	D	3.505	0.92816	H	5.5	0.00921	T	-5.3	0.84387	D	0.863	0.85979	-1.2160	0.00065	T	0.018	0.07470	T	10	0.77604055	0.77466	D	0.012149	0.30463	T	0.213	0.50496	0.625	0.76028	0.271763555656	0.26798	0.53427711006469	0.53352	0.176224816817	0.19835	0.45029103756	0.31983	T	0.071912	0.34324	T	-0.0782573	0.39999	T	-0.0539954	0.66750	D	0.890712022781372	0.54157	D	0.433257	0.11819	T	0.9335484	0.94593	0.92829293	0.96976	0.9335484	0.94593	0.92829293	0.96977	-7.767	0.59471	D	.	.	0.264	0.49884	B	.	.	3.652837	0.51852	23.2	0.99827690902493227	0.90939	0.38780	0.26065	N	AEFBI	0.265213	0.38239	N	0.432512969246594	0.63218	4.551427	0.271163956873282	0.53862	3.553253	0.187088295792829	0.17952	0.372202	0.05800	0	0.446627	0.06534	0	0.54472	0.12158	0	0.491896	0.07777	0	.	.	6.17	4.96	0.65153	1.123000	0.30922	.	.	0.665000	0.62972	0.007000	0.17678	0.995000	0.32472	0.027000	0.12703	0.1438:0.0:0.0:0.8562	10.626	0.44701	900	0.24599	.	.	.	.	.	.	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	0.02381	3334.98	33	chr7	141764334	.	T	C	3334.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.278e+00;DP=1203;ExcessHet=0.0000;FS=6.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-2.008e+00;SOR=1.021	GT:AD:DP:GQ:PL	0/1:121,134:255:99:3349,0,3636	20	0	1	0
chr7	142056908	142056908	C	G	exonic	MGAM	.	nonsynonymous SNV	MGAM:NM_001365693:exon30:c.C3659G:p.P1220R	.	.	438	1080	4	0	0	4	0.00184843	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.003	N	1.000	D	3.645	H	-2.5	D	1.001	D	0.870	D	0.883	2.767	15.21	4.17	1.857	7.716	15.210	0.806	0.0211558464645	0.0004	0.000199681	0.0007	0.0001	0	0	0	0.0009	0	0.0015	0.0005951	92	154602	rs200326465	0.0004	0.0004	0.0004	0.0005	0.0029	0.0004	0.0004	0.0019	0.0015	2.987e-05	0.0005	0.0088	2.519e-05	0	0.0029	0.0002	0.0007	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0003	0.0003	0.0008	0.0006	7.226e-05	0	0.0003	0.0058	0.0002	0	0.0136	0.0004	0.0005	0.0017	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.003009	0.35573	N	0.000000	0.999743	0.48716	D	3.95	0.96445	H	-2.5	0.89219	D	-8.43	0.97186	D	0.944	0.95139	1.001	0.97211	D	0.870	0.95681	D	10	0.12902677	0.24548	T	0.021156	0.43885	T	0.806	0.93699	.	.	0.942995736198	0.94240	0.5795499367041943	0.57883	0.308030043683	0.33109	0.676748394966	0.63803	T	0.758078	0.93424	D	0.119071	0.66279	D	0.368182	0.91007	D	0.240350029927846	0.22436	T	0.938806	0.76978	D	0.62005484	0.73766	0.68006474	0.81202	0.62005484	0.73767	0.68006474	0.81203	-12.481	0.87115	D	.	.	0.257	0.49167	B	.;.;.	.;.;.	4.737501	0.76369	26.5	0.99784749463423461	0.87131	0.98222	0.80675	D	AEFI	0.906981	0.86044	D	0.690181247822271	0.78989	6.98396	0.527997906814061	0.69882	5.424123	0.999984859065071	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.17	4.17	0.48303	7.539000	0.80984	.	.	0.333000	0.19617	1.000000	0.71638	1.000000	0.68203	0.731000	0.35132	0.0:1.0:0.0:0.0	15.210	0.72902	.	.	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	4992.11	46	chr7	142056908	.	C	G	4992.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.51;DP=1208;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=1.58;SOR=0.645	GT:AD:DP:GQ:PL	0/1:99,91:190:99:2271,0,2474	19	0	2	0
chr7	142864297	142864299	CCT	-	exonic	EPHB6	.	nonframeshift deletion	EPHB6:NM_004445:exon7:c.497_499del:p.S177del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	.	0.0030	0.0009	0.0027	0.0001	0.0030	0.0040	0.0023	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/3:0,36,0,46:82:99:3319,1852,1846,3338,1908,3393,1491,0,1504,1371	0	16	2	0
chr7	142864299	142864299	-	CCT	exonic	EPHB6	.	nonframeshift insertion	EPHB6:NM_004445:exon7:c.499_500insCCT:p.S177_A178insS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	60299.65	90	chr7	142864293	.	CCCTCCT	CCCT,C,CCCTCCTCCT	60299.65	.	AC=37,1,2;AF=0.881,0.024,0.048;AN=42;BaseQRankSum=0.649;DP=1834;ExcessHet=0.1072;FS=1.273;InbreedingCoeff=-0.0500;MLEAC=37,1,2;MLEAF=0.881,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=30.29;ReadPosRankSum=0.118;SOR=1.001	GT:AD:DP:GQ:PL	1/3:0,36,0,46:82:99:3319,1852,1846,3338,1908,3393,1491,0,1504,1371	0	16	2	0
chr7	143398373	143398373	C	T	exonic	EPHA1	.	nonsynonymous SNV	EPHA1:NM_005232:exon7:c.G1412A:p.R471Q,	.	.	430	1071	20	1	0	22	0.0101664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.015	B	0.008	B	0.228	N	1.000	N	-0.135	N	0.4	T	-1.049	T	0.068	T	0.113	0.097	4.524	3.07	1.164	1.707	7.659	0.038	.	0.0020	0.00259585	0.0029	0.0003	0.0005	0	0.0002	0.0022	0.0011	0.0122	0.0028266	437	154602	rs143535859	0.0027	0.0027	0.0023	0.0031	0.0116	0.0026	0.0026	0.0110	0.0108	0.0003	0.0010	7.652e-05	7.557e-05	1.872e-05	0.0099	0.0024	0.0025	0.0116	0.0018	0.0018	0.0016	0.0019	0.0124	0.0016	0.0015	0.0099	0.0090	0.0004	0	0.0007	0	0	0	0.0136	0.0026	0.0005	0.0124	0.595	0.05720	T	0.797	0.04104	T	0.015	0.17086	B	0.008	0.13708	B	0.228235	0.15980	N	0.562825	0.999999	0.08975	N	-0.51	0.02586	N	0.4	0.57261	T	0.39	0.03521	N	0.154	0.15888	-1.0489	0.14705	T	0.068	0.27845	T	10	0.004873246	0.00104	T	.	.	.	0.038	0.09825	.	.	0.324161360171	0.32030	0.3482857113977316	0.34742	0.163144533903	0.18410	0.267599970102	0.05830	T	0.110907	0.42597	T	-0.557582	0.00262	T	-0.564309	0.15975	T	0.0108359602405479	0.00154	T	.	.	.	0.04821828	0.08370	0.040039677	0.04236	0.04821828	0.08369	0.040039677	0.04236	-4.223	0.27083	T	.	.	0.063	0.01491	B	.	.	2.164478	0.27577	17.51	0.7814562810436716	0.12174	0.24837	0.22516	N	AEFDBCI	0.077329	0.15576	N	-0.776125819730992	0.13934	0.6901381	-0.696361390555974	0.17051	0.9049153	0.999725218714266	0.42220	0.67177	0.52595	0	0.59043	0.45803	0	0.702456	0.68683	0	0.613276	0.41899	0	.	.	4.98	3.07	0.34476	0.512000	0.22461	1.726000	0.28294	0.599000	0.40250	0.003000	0.16062	0.994000	0.32194	0.078000	0.17132	0.0:0.7847:0.0:0.2152	7.659	0.27561	819	0.41190	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	0.04762	2755.11	34	chr7	143398373	.	C	T	2755.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=980;ExcessHet=0.1072;FS=1.660;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=0.021;SOR=0.577	GT:AD:DP:GQ:PL	0/1:61,77:138:99:2116,0,1437	19	0	2	0
chr7	143478290	143478290	A	G	exonic	TAS2R41	.	nonsynonymous SNV	TAS2R41:NM_176883:exon1:c.A418G:p.I140V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.08	B	0.074	B	0.948	N	1.000	N	1.69	L	5.65	T	-0.976	T	0.003	T	0.072	-0.179	3.127	-8.61	-1.743	-1.632	6.528	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4409.3	115	chr7	143478290	.	A	G	4409.3	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.767e+00;DP=2442;ExcessHet=30.0624;FS=186.672;InbreedingCoeff=-0.7419;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=1.01;SOR=12.368	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,41:99:99:.:.:436,0,1294	3	0	18	0
chr7	144364052	144364052	G	T	exonic	ARHGEF5	.	nonsynonymous SNV	ARHGEF5:NM_005435:exon2:c.G1383T:p.Q461H,	.	.	548	973	1	0	0	1	0.000513611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	P	0.339	B	0.580	U	1.000	N	1.59	L	-1.23	T	-0.780	T	0.311	T	0.065	2.380	13.92	-0.659	-0.260	-0.236	3.818	0.248	0.0293402177483	.	0.000599042	0.0002	0	0	0	0	0	0	0.0013	0.0001153	3	26028	rs554856476	0.0001	0.0002	7.927e-05	0.0002	0.0020	0.0001	0.0001	0.0017	0.0016	0	0	0	0	0	0	0	0.0001	0.0020	6.985e-05	9.018e-05	2.251e-05	0.0001	0.0021	3.005e-05	2.044e-05	0.0009	0.0006	0	0	0	0	0	0	0	0	0	0.0021	0.001	0.78490	D	0.134	0.34241	T	0.838	0.46404	P	0.339	0.42346	B	0.580438	0.05532	U	1.349510	1	0.08975	N	1.65	0.42232	L	-1.23	0.78860	T	-2.0	0.46146	N	0.095	0.07535	-0.7797	0.56320	T	0.311	0.68166	T	9	0.015687436	0.00329	T	0.02934	0.51865	D	0.248	0.55615	0.136	0.04008	0.737386399311	0.73503	0.21280335488839913	0.21196	.	.	0.276250779629	0.06975	T	0.107994	0.42066	T	-0.162616	0.26359	T	-0.471363	0.25369	T	0.0476277368297337	0.05078	T	0.420658	0.11177	T	0.17788433	0.38779	0.10824326	0.26072	0.17788433	0.38778	0.10824326	0.26072	-3.994	0.23714	T	.	.	0.16	0.35372	B	.	.	0.874594	0.12478	9.008	0.99284181349579415	0.58008	0.07593	0.13604	N	AEFI	0.056617	0.10481	N	-0.654232539350714	0.17337	0.8912614	-0.853583058617184	0.13202	0.6835594	1.17133382413696E-6	0.01202	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	3.68	-0.659	0.10851	-0.200000	0.09480	0.253000	0.16451	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.3421:0.1838:0.474:0.0	3.818	0.08337	958	0.09170	Rho guanine nucleotide exchange factor 5/35, N-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	1	0	0	0	0.02632	632.71	42	chr7	144364052	.	G	T	632.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.069e+00;DP=726;ExcessHet=0.0000;FS=3.520;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=37.89;MQRankSum=-2.220e-01;QD=17.10;ReadPosRankSum=0.382;SOR=0.256	GT:AD:DP:GQ:PL	0/1:11,26:37:99:646,0,242	18	0	1	2
chr7	148383851	148383851	C	T	exonic	CNTNAP2	.	unknown	UNKNOWN,	Cortical dysplasia-focal epilepsy syndrome;Pitt-Hopkins like syndrome 1	.	2	1519	1	0	0	1	0.000329056	.	.	140535	not_specified|not_provided|CNTNAP2-related_disorder|Cortical_dysplasia-focal_epilepsy_syndrome|Inborn_genetic_diseases	MedGen:CN169374|MedGen:C3661900|.|MONDO:MONDO:0012400,MedGen:C2750246,OMIM:610042,Orphanet:163681,Orphanet:221150|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0001	0.0052	0.0001	0	0.0001	0	0.0003	0.0004916	76	154602	rs201219937	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0032	0.0031	8.961e-05	0.0037	0	0.0001	1.877e-05	0.0002	5.576e-05	0.0001	0.0002	0.0001	0.0001	5.14e-05	0.0002	0.0005	6.509e-05	5.321e-05	0.0003	0.0002	7.22e-05	0	0.0005	0	0	0	0	7.351e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	1	0.02381	348.98	33	chr7	148383851	.	C	T	348.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=747;ExcessHet=0.0000;FS=4.072;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.25;SOR=0.184	GT:AD:DP:GQ:PL	0/1:18,12:30:99:363,0,445	20	0	1	0
chr7	151036126	151036126	G	A	exonic	ABCB8	.	nonsynonymous SNV	ABCB8:NM_001282293:exon7:c.G803A:p.R268H	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.998	D	0.93	D	0.017	N	1.000	N	1.625	L	-1.53	D	-0.272	T	0.643	D	0.378	2.378	13.91	2.47	1.317	0.116	4.492	0.352	0.114764411851	0.0004	0.000199681	0.0002	0.0013	0	0	0	1.588e-05	0	0.0007	0.0001746	27	154602	rs144862157	9.719e-05	9.713e-05	8.853e-05	0.0001	0.0013	8.381e-05	7.919e-05	0.0010	0.0009	0.0013	0	0	5.039e-05	0	0.0003	8.993e-06	0.0001	0.0009	0.0003	0.0003	0.0003	0.0004	0.0010	0.0003	0.0002	0.0008	0.0007	0.0010	0	6.534e-05	0	0	9.416e-05	0	1.47e-05	0	0.0008	0.539	0.06891	T	0.538	0.09829	T	0.975	0.67487	D	0.737	0.63913	P	0.017407	0.27731	N	0.407811	1	0.08975	N	1.79	0.46772	L	-2.54	0.89496	D	0.15	0.08495	N	0.45	0.49874	-0.2716	0.75768	T	0.643	0.87532	D	10	0.057269543	0.06550	T	0.114764	0.79373	D	0.352	0.67326	.	.	0.979076853958	0.97885	0.40021259172163076	0.39936	0.435720000412	0.43672	0.413728415966	0.26972	T	0.255325	0.69636	T	-0.282515	0.10403	T	-0.19182	0.55419	T	0.0488406658435342	0.05295	T	0.970103	0.89686	D	0.082510054	0.19012	0.04612451	0.06359	0.082510054	0.19011	0.04612451	0.06359	-8.523	0.64581	D	.	.	0.089	0.16670	B	.;.;.;.;.;.	.;.;.;.;.;.	3.050847	0.40936	21.3	0.99800773255370767	0.88550	0.08381	0.14317	N	AEFBCI	0.144165	0.26705	N	0.0283943898661779	0.43148	2.613572	-0.0303066088569008	0.38353	2.258385	0.999813014269953	0.43459	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	2.47	0.29113	0.138000	0.15838	2.777000	0.34710	0.676000	0.76740	0.000000	0.06391	0.997000	0.33255	0.633000	0.32236	0.1764:0.0:0.5513:0.2723	4.492	0.11230	934	0.15400	.;.;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	659.98	38	chr7	151036126	.	G	A	659.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.586e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.45;ReadPosRankSum=1.41;SOR=0.637	GT:AD:DP:GQ:PL	0/1:29,24:53:99:674,0,870	20	0	1	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H,	.	YES	526	320	669	7	0	683	0.516251	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.002	U	1.000	D	2.11	M	-2.28	D	0.656	D	0.754	D	0.82	3.081	16.29	4.67	1.866	9.283	14.405	0.432	.	.	.	0.4728	0.4914	0.4863	0.4887	0.4732	0.4636	0.4765	0.4809	0.0018057	47	26028	rs77735469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.999	0.92359	D	0.001979	0.37549	U	0.000000	0.971252	0.38857	D	2.22	0.62911	M	-2.28	0.87512	D	-4.01	0.75456	D	0.934	0.93959	0.656	0.92620	D	0.754	0.91609	D	10	0.012159407	0.00262	T	.	.	.	0.815	0.94046	.	.	.	.	0.5529033843776924	0.55216	2.65390431601	0.98462	0.900072455406	0.96449	D	0.576893	0.86083	D	0.315486	0.84148	D	0.215397	0.83941	D	0.0127532117779022	0.00216	T	0.984602	0.94707	D	0.6018943	0.72793	0.5814447	0.75738	0.6018943	0.72794	0.5814447	0.75739	-9.256	0.69330	D	0.6635921527459159	0.73748	0.854	0.79986	P	.;.	.;.	4.408107	0.68175	25.2	0.99273378386417865	0.57627	0.99067	0.90742	D	AEFBI	0.864295	0.78306	D	0.740431229350387	0.82279	7.723933	0.698705506977523	0.82280	7.728171	0.999787248307013	0.43007	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.67	4.67	0.58089	9.318000	0.95450	11.148000	0.87267	0.689000	0.82905	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	14.405	0.66648	929	0.16858	Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type;Zinc finger, PHD-finger|Zinc finger, RING-type|Zinc finger, PHD-type	.	.	.	.	.	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.4048	21206.9	371	chr7	152229940	.	A	G	21206.9	.	AC=17;AF=0.405;AN=42;BaseQRankSum=-6.890e-01;DP=6803;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6800;MLEAC=17;MLEAF=0.405;MQ=44.68;MQRankSum=0.452;QD=3.93;ReadPosRankSum=0.208;SOR=0.720	GT:AD:DP:GQ:PL	0/1:182,122:304:99:2432,0,4904	4	0	17	0
chr7	152265205	152265205	C	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon8:c.G1017C:p.K339N,	.	.	421	1051	50	0	0	50	0.0232342	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.999	D	0.991	D	0.001	U	1.000	D	1.04	L	-5.16	D	0.881	D	0.928	D	0.158	0.401	6.180	3.77	1.072	1.789	11.249	0.572	.	.	.	0.0021	0.0111	0.0007	0.0018	0.0005	0.0010	0	0.0035	0.0006147	16	26028	rs775803041	5.981e-05	0.0076	4.535e-05	7.442e-05	0.0003	4.937e-05	4.544e-05	0.0002	0.0001	0.0003	9.457e-05	4.025e-05	0.0002	3.892e-05	0	3.535e-05	5.168e-05	0.0002	3.333e-05	0.0021	1.302e-05	5.465e-05	0.0002	1.275e-05	8.08e-06	8.19e-06	3.07e-06	4.945e-05	0	0	0	0	0	0	1.482e-05	0.0005	0.0002	0.246	0.17353	T	.	.	.	0.999	0.77913	D	0.991	0.79672	D	0.000576	0.43250	U	0.000000	0.938391	0.37224	D	1.445	0.36358	L	-5.16	0.98796	D	-2.17	0.49018	N	0.586	0.60664	0.881	0.95424	D	0.928	0.97621	D	10	0.022789448	0.00578	T	.	.	.	0.572	0.82629	0.4	0.42917	0.863302321749	0.86197	0.9070440576430164	0.90677	3.14057088863	0.99419	0.771010279655	0.77576	T	0.079823	0.36220	T	0.0848077	0.62599	D	-0.115956	0.62133	T	0.085914246737957	0.10725	T	0.856014	0.54441	D	0.14069383	0.32450	0.13352853	0.32017	0.14069383	0.32450	0.13352853	0.32016	-7.908	0.60442	D	0.7078248139639416	0.78764	0.700	0.72955	P	.;.	.;.	4.007063	0.59081	24.1	0.98560692262797078	0.42973	0.86679	0.46011	D	AEFDGI	0.317148	0.42122	N	-0.0667300470696601	0.38857	2.282421	-0.115006256874915	0.34785	2.004846	0.502645286987131	0.20955	0.706548	0.73137	0	0.724815	0.89359	0	0.601832	0.32385	0	0.74596	0.99574	0	.	.	4.65	3.77	0.42499	1.960000	0.40046	3.951000	0.40674	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.8451:0.0:0.1549	11.249	0.48247	952	0.10565	.;.	.	.	.	.	.	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	0.09524	518.92	323	chr7	152265205	.	C	G	518.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-1.361e+00;DP=4176;ExcessHet=0.6776;FS=2.065;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=46.72;MQRankSum=-4.333e+00;QD=0.48;ReadPosRankSum=-1.062e+00;SOR=1.120	GT:AD:DP:GQ:PL	0/1:208,27:235:99:138,0,5977	17	0	4	0
chr8	242998	242998	C	A	exonic	ZNF596	.	nonsynonymous SNV	ZNF596:NM_001042415:exon3:c.C124A:p.H42N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.982	D	0.762	P	.	.	1.000	N	-0.265	N	5.1	T	-0.970	T	0.004	T	0.263	-1.720	0.011	2.38	1.669	0.435	6.483	0.117	0.00164559654862	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs764153561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.529	0.07048	T	0.399	0.92824	T	0.982	0.60036	D	0.762	0.56524	P	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	5.1	0.01231	T	-1.65	0.43149	N	0.426	0.46928	-0.9696	0.37283	T	0.004	0.01226	T	9	0.12747201	0.24242	T	0.001646	0.02676	T	0.117	0.32689	0.7	0.83684	0.570441715299	0.56709	0.05701129772913163	0.05642	0.0037235386755	0.00321	0.529215693474	0.42923	T	8.36E-4	0.00412	T	-0.270993	0.11647	T	-0.627039	0.10640	T	0.197925182928762	0.20301	T	0.352565	0.34357	T	0.10948226	0.25883	0.07597565	0.16779	0.10948226	0.25883	0.07597565	0.16779	-4.639	0.32658	T	.	.	0.141	0.38658	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.880066	0.38109	20.7	0.44436659380085669	0.03416	0.00592	0.02653	N	AEFBI	0.023555	0.01330	N	-0.478161273774432	0.22798	1.219842	-0.553028814694183	0.20725	1.117951	0.00108988831301665	0.08206	0.615465	0.37627	0	0.588015	0.36545	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	2.38	2.38	0.28415	-0.470000	0.06717	0.525000	0.19198	0.544000	0.25403	0.000000	0.06391	0.041000	0.21590	0.985000	0.61073	0.2887:0.7113:0.0:0.0	6.483	0.21272	988	0.01987	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;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;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	534.98	34	chr8	242998	.	C	A	534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.970e-01;DP=740;ExcessHet=0.0000;FS=2.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.09;ReadPosRankSum=0.370;SOR=0.399	GT:AD:DP:GQ:PL	0/1:31,22:53:99:549,0,829	20	0	1	0
chr8	692478	692478	C	T	exonic	ERICH1	.	nonsynonymous SNV	ERICH1:NM_001303100:exon3:c.G304A:p.D102N	.	.	426	1094	2	0	0	2	0.000913242	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.984	D	0.027	N	1.000	D	1.905	M	1.09	T	-0.756	T	0.218	T	0.129	2.891	15.63	4.56	2.450	2.608	13.572	0.095	0.0300898857147	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455014133	6.841e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.027	0.55341	D	1.0	0.90584	D	0.984	0.76113	D	0.026638	0.25887	N	0.398605	0.992805	0.81001	D	1.905	0.50856	L	1.09	0.39223	T	-2.95	0.61580	D	0.281	0.31814	-0.7564	0.57599	T	0.218	0.58098	T	9	0.24505234	0.41747	T	0.03009	0.52471	D	0.095	0.27398	0.231	0.15855	0.59817006922	0.59497	0.03737471147272868	0.03683	0.00959419702733	0.00872	0.392331779003	0.23997	T	0.100248	0.40587	T	-0.174507	0.24556	T	-0.488444	0.23553	T	0.898914396762848	0.55111	D	0.60384	0.22664	T	0.21033898	0.43327	0.115602784	0.27905	0.21033898	0.43327	0.115602784	0.27904	-3.004	0.10224	T	.	.	0.175	0.38245	B	.	.	5.628039	0.92652	32	0.99854299427754778	0.93368	0.77964	0.38398	D	AEFBCI	0.314694	0.41948	N	0.442042828897695	0.63752	4.61519	0.360361376803566	0.59136	4.088816	0.999993768851847	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.683762	0.67416	0	.	.	4.56	4.56	0.55644	2.680000	0.46583	3.932000	0.40542	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.053000	0.15439	0.0:1.0:0.0:0.0	13.572	0.61320	979	0.04160	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1240.98	34	chr8	692478	.	C	T	1240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.440;DP=839;ExcessHet=0.0000;FS=0.751;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.41;ReadPosRankSum=0.866;SOR=0.550	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1255,0,1250	20	0	1	0
chr8	2001916	2001916	G	A	exonic	KBTBD11	.	nonsynonymous SNV	KBTBD11:NM_014867:exon2:c.G724A:p.A242T,	.	.	432	1088	2	0	0	2	0.000918274	.	.	2392186	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.848	P	0.259	B	0.922	U	0.994	N	0.69	N	-1.05	T	-0.800	T	0.227	T	0.173	1.766	11.86	2.69	0.695	1.252	2.565	0.191	0.854862185112	.	.	0.0010	0	0	0	0	0	0	0.0027	0.0002005	31	154602	rs750947866	0.0001	0.0001	5.318e-05	0.0002	0.0019	0.0001	9.685e-05	0.0017	0.0016	0	0	0	0	3.101e-05	0	9.683e-07	7.717e-05	0.0019	6.062e-05	5.925e-05	2.628e-05	9.674e-05	0.0019	3.147e-05	2.36e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0	0.0019	0.012	0.54683	D	0.245	0.24054	T	0.848	0.46844	P	0.259	0.39405	B	0.921638	0.08483	U	0.956808	0.99396	0.23615	N	1.245	0.31408	L	-1.05	0.76690	T	-0.12	0.08809	N	0.049	0.02088	-0.8004	0.55121	T	0.227	0.59246	T	10	0.02770552	0.00912	T	0.854862	0.98883	D	0.191	0.46948	0.397	0.42426	0.84075666641	0.83923	0.41448690241043507	0.41364	1.01061259862	0.74754	0.830191075802	0.86591	D	0.009637	0.08763	T	-0.381516	0.03048	T	-0.326656	0.41839	T	0.129648529470684	0.15350	T	.	.	.	0.0997644	0.23548	0.19300066	0.42845	0.0997644	0.23547	0.19300066	0.42844	-4.468	0.30468	T	.	.	0.086	0.10931	B	.	.	2.359734	0.30268	18.38	0.99200617282342018	0.55261	0.39461	0.26218	N	AEFDBHCIJ	0.049713	0.08616	N	-0.207912673972164	0.32810	1.85445	-0.228997443208842	0.30503	1.717947	0.999999999996322	0.74766	0.443343	0.08805	1	0.547309	0.14657	0	0.666236	0.60216	0	0.603991	0.37454	0	.	.	3.59	2.69	0.30923	1.042000	0.29914	2.824000	0.34981	0.540000	0.25189	1.000000	0.71638	1.000000	0.68203	0.183000	0.21389	0.1273:0.4158:0.3217:0.1352	2.565	0.04491	964	0.07719	.	.	.	.	.	.	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	0.02381	1163.98	36	chr8	2001916	.	G	A	1163.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.650e-01;DP=881;ExcessHet=0.0000;FS=0.642;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.69;ReadPosRankSum=1.86;SOR=0.633	GT:AD:DP:GQ:PL	0/1:78,56:134:99:1178,0,1831	20	0	1	0
chr8	2974553	2974553	C	T	exonic	CSMD1	.	nonsynonymous SNV	CSMD1:NM_033225:exon56:c.G8638A:p.V2880I,	.	.	424	1081	16	1	0	18	0.00825688	.	.	723047	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.49	T	0.002	B	0.013	B	0.617	N	1.000	N	1.295	L	-0.27	T	-0.981	T	0.162	T	0.106	2.229	13.41	-8.52	-1.151	-0.587	11.110	0.041	.	0.0004	0.00299521	0.0021	0.0002	0.0010	0	0	0.0007	0.0036	0.0118	0.0017658	273	154602	rs199997360	0.0012	0.0012	0.0009	0.0015	0.0104	0.0011	0.0011	0.0098	0.0096	0.0001	0.0007	3.829e-05	5.045e-05	0	0.0042	0.0006	0.0012	0.0104	0.0008	0.0008	0.0006	0.0010	0.0108	0.0007	0.0006	0.0084	0.0076	0.0001	0	0.0004	0	0	0	0.0068	0.0008	0.0014	0.0108	0.271	0.24468	T	0.058	0.46182	T	0.0	0.02946	B	0.002	0.06944	B	0.616804	0.05733	N	1.232560	1	0.08975	N	.	.	.	-0.27	0.67367	T	-0.84	0.23590	N	0.125	0.13055	-0.9811	0.34748	T	0.162	0.49748	T	10	0.024886549	0.00701	T	.	.	.	0.109	0.30843	.	.	0.0884992946249	0.08302	0.1613124792866428	0.16052	.	.	0.200619101524	0.00475	T	0.022544	0.17365	T	-0.547403	0.00302	T	-0.551121	0.17219	T	0.00539363786171525	0.00058	T	0.609039	0.23205	T	0.034196056	0.03792	0.036459863	0.03098	0.033009052	0.03435	0.04383823	0.05543	-3.967	0.23308	T	.	.	0.068	0.02927	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.727708	0.01257	0.065	0.88680894306336966	0.18169	0.05817	0.11756	N	AEFDHCI	0.070578	0.14017	N	-1.5934040966404	0.01298	0.05650825	-1.69436569463707	0.01162	0.05229985	0.394897223316251	0.20079	0.65861	0.49226	0	0.573888	0.26702	0	0.725225	0.93170	0	0.564101	0.26826	0	.	.	5.66	-8.52	0.00801	-0.587000	0.05874	-5.250000	0.01790	-0.946000	0.02057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4556:0.0891:0.4553	11.110	0.47447	952	0.10565	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1627.98	33	chr8	2974553	.	C	T	1627.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.979;DP=872;ExcessHet=0.0000;FS=0.707;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=0.059;SOR=0.826	GT:AD:DP:GQ:PL	0/1:49,67:116:99:1642,0,1006	20	0	1	0
chr8	8377708	8377708	G	A	exonic	PRAG1	.	nonsynonymous SNV	PRAG1:NM_001080826:exon3:c.C701T:p.S234L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.999	D	0.908	P	0.568	N	0.983	N	0.975	L	0.01	T	-0.884	T	0.256	T	0.401	3.898	19.82	4.46	2.780	0.662	10.197	0.174	0.00559372030202	.	.	8.336e-05	0	8.66e-05	0.0005	0	1.512e-05	0	0.0002	6.47e-05	10	154602	rs749345117	3.626e-05	3.625e-05	2.859e-05	4.401e-05	0.0003	2.828e-05	2.565e-05	0.0002	0.0001	0	2.236e-05	0	0.0002	1.878e-05	0.0003	1.439e-05	6.624e-05	0.0003	6.574e-06	6.568e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	0.117	0.36365	T	0.999	0.77913	D	0.908	0.64494	P	0.567796	0.11270	N	0.736593	0.983335	0.24892	N	.	.	.	.	.	.	.	.	.	0.182	0.19728	-0.8845	0.49398	T	0.256	0.62676	T	10	0.08250022	0.13623	T	0.005594	0.14439	T	.	.	0.117	0.02508	0.332902724076	0.32905	0.19069059892514872	0.18987	.	.	0.405740767717	0.25867	T	0.020116	0.15899	T	-0.246369	0.14547	T	-0.299519	0.44776	T	0.121531025253806	0.14579	T	0.753825	0.37593	T	0.06613285	0.14201	0.118315436	0.28560	0.06613285	0.14201	0.118315436	0.28559	-3.623	0.18190	T	.	.	0.109	0.20857	B	.;.	.;.	2.315209	0.29642	18.19	0.99920200889992439	0.98721	0.35681	0.25358	N	AEFDBCI	0.047731	0.08070	N	0.209317181237743	0.51651	3.344623	0.203512606446516	0.50043	3.200459	0.999998989977898	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.55	4.46	0.53567	0.693000	0.25176	2.435000	0.32748	0.676000	0.76740	0.267000	0.25017	0.996000	0.32793	0.930000	0.46718	0.1249:0.0:0.8751:0.0	10.197	0.42234	929	0.16858	.;.	.	.	.	.	.	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	0.02381	1511.98	39	chr8	8377708	.	G	A	1511.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.28;DP=1015;ExcessHet=0.0000;FS=0.794;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.75;ReadPosRankSum=0.073;SOR=0.795	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1526,0,1188	20	0	1	0
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.027	B	0.014	B	.	.	1.000	N	0.345	N	3.31	T	-0.952	T	0.010	T	0.123	0.824	8.317	-1.96	-0.572	0.007	4.524	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4444	23209.27	218	chr8	10609944	.	A	G	23209.27	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-3.977e+00;DP=5343;ExcessHet=20.9642;FS=235.485;InbreedingCoeff=-0.7143;MLEAC=18;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=5.49;ReadPosRankSum=0.786;SOR=14.188	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,59:253:99:0|1:10609943_C_T:1370,0,7488:10609943	2	0	16	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	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-1.090	0.153	0.493	0.514	-0.384	6.300	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,58,0:252:99:0|1:10609943_C_T:1354,0,7481,1937,7655,9592:10609943	0	0	15	4
chr8	10609948	10609948	C	T	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150A:p.G1384R,	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.992	D	0.584	P	.	.	1.000	N	0.345	N	3.32	T	-0.947	T	0.014	T	0.044	-0.967	0.313	0.493	0.514	-0.384	6.300	0.050	0.00160529655429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	2.736e-06	1.369e-06	4.147e-06	3.01e-05	6.4e-07	4.3e-07	7.2e-07	2e-07	3.01e-05	0	0	0	0	0	2.712e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999998	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	0.104384124	0.19241	T	0.001605	0.02574	T	0.050	0.13987	0.278	0.23164	0.316788114976	0.31282	0.06568764159549773	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.39725	0.02413	T	-0.808399	0.01701	T	0.0816829286653207	0.10202	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	.	.	0.735258	0.11045	7.700	0.060865936656048288	0.00019	0.01778	0.05572	N	AEFDBI	0.030371	0.03043	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	28582.14	217	chr8	10609948	.	C	G,T	28582.14	.	AC=15,2;AF=0.441,0.059;AN=34;BaseQRankSum=-3.070e+00;DP=5190;ExcessHet=25.1139;FS=287.113;InbreedingCoeff=-0.8261;MLEAC=17,2;MLEAF=0.500,0.059;MQ=60.00;MQRankSum=0.00;QD=6.48;ReadPosRankSum=0.966;SOR=14.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,58,0:252:99:0|1:10609943_C_T:1354,0,7481,1937,7655,9592:10609943	0	0	15	4
chr8	11838472	11838472	A	G	exonic	FDFT1	.	nonsynonymous SNV	FDFT1:NM_001287756:exon5:c.A616G:p.N206D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.0	B	0.001	B	0.865	N	1.000	N	0	N	1.57	T	-1.019	T	0.060	T	0.044	1.289	10.22	3.12	0.532	1.159	8.013	0.025	0.00642284844805	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1373133591	6.875e-07	6.84e-07	0	1.384e-06	9.028e-07	0	0	.	.	0	0	0	0	0	0	9.028e-07	0	0	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	0.14	0.25664	T	0.455	0.13673	T	0.0	0.02946	B	0.0	0.01387	B	0.865157	0.07140	N	1.052520	0.999997	0.18878	N	0.345	0.11182	N	1.57	0.41750	T	-0.34	0.17417	N	0.075	0.10626	-1.0193	0.23943	T	0.060	0.25163	T	10	0.048363864	0.04276	T	0.006423	0.16899	T	0.025	0.05312	0.247	0.18293	0.144782658237	0.14088	0.2333710558690042	0.23252	.	.	0.281569838524	0.07712	T	0.185689	0.53874	T	-0.342449	0.05221	T	-0.729681	0.04342	T	0.0310740702048689	0.02158	T	0.678032	0.28700	T	0.059218846	0.12008	0.051983092	0.08476	0.059218846	0.12007	0.051983092	0.08475	-3.271	0.15835	T	.	.	0.063	0.01884	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.837901	0.23349	15.98	0.96820111452851043	0.31221	0.39731	0.26278	N	AEFBHCI	0.432608	0.49441	N	-0.992421475490481	0.08764	0.4122215	-0.906247847177337	0.11947	0.6117188	0.999918202002774	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.46	3.12	0.34986	0.617000	0.24053	.	.	-0.122000	0.13826	0.004000	0.16614	0.998000	0.33993	0.848000	0.40082	0.6939:0.0:0.3061:0.0	8.013	0.29526	970	0.06235	.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	10864.08	35	chr8	11838472	.	A	G	10864.08	.	AC=2;AF=0.048;AN=42;DP=1161;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.36;SOR=0.932	GT:AD:DP:GQ:PL	1/1:0,370:370:99:10892,1110,0	20	1	0	0
chr8	12137613	12137613	T	C	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.A1148G:p.E383G,	.	.	519	999	3	1	0	5	0.00249626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.0	B	0.002	B	1.000	N	1.000	N	0.69	N	0.83	T	-1.024	T	0.072	T	0.054	-0.719	0.912	-0.448	-0.093	-0.100	3.531	0.012	.	0.0002	0.00958466	0.0046	0	0.0001	0	0	7.024e-05	0.0064	0.0333	0.0036028	557	154602	rs371850474	0.0018	0.0018	0.0011	0.0026	0.0301	0.0017	0.0017	0.0291	0.0287	0	7.144e-05	0	2.944e-05	0	0.0018	5.801e-05	0.0016	0.0301	0.0010	0.0012	0.0006	0.0014	0.0322	0.0008	0.0008	0.0276	0.0259	2.681e-05	0	0	0	0.0002	0	0	4.626e-05	0.0010	0.0322	0.386	0.10980	T	0.472	0.12176	T	0.0	0.02946	B	0.002	0.06944	B	1.000000	0.07966	N	1.000120	1	0.08975	N	-1.055	0.01063	N	0.83	0.47815	T	0.94	0.01529	N	0.054	0.02559	-1.0244	0.22279	T	0.072	0.29323	T	10	0.0029718876	0.00048	T	.	.	.	0.012	0.01476	.	.	0.158396225186	0.15383	0.01966341223153747	0.01919	0.435248957395	0.43639	0.505769491196	0.39631	T	0.001295	0.00775	T	-0.502793	0.00551	T	-0.763701	0.02981	T	0.029006837565582	0.01838	T	0.485151	0.14792	T	0.023289273	0.01056	0.029069202	0.01206	0.023289273	0.01055	0.029069202	0.01206	-4.845	0.35111	T	.	.	0.062	0.01309	B	.	.	0.087509	0.04920	1.497	0.61411669328605423	0.06702	0.00281	0.01517	N	AEFBI	0.033105	0.03865	N	-1.32575307692794	0.03383	0.1510339	-1.42728464016269	0.02982	0.1382511	1.68199652344649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.935	-0.448	0.11620	-0.569000	0.05993	-2.674000	0.03481	0.299000	0.18918	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.645:0.0:0.355	3.531	0.07333	.	.	.	.	.	.	.	.	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	0.05556	8825.38	464	chr8	12137613	.	T	C	8825.38	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.074e+00;DP=5093;ExcessHet=0.0000;FS=6.561;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.056;MQ=50.54;MQRankSum=-1.391e+00;QD=32.21;ReadPosRankSum=-2.550e-01;SOR=0.345	GT:AD:DP:GQ:PL	1/1:2,272:274:99:8851,740,0	17	1	0	3
chr8	12138430	12138430	G	A	exonic	USP17L2	.	nonsynonymous SNV	USP17L2:NM_201402:exon1:c.C331T:p.R111W,	.	.	577	940	4	1	0	6	0.00318134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.716	P	0.49	P	0.302	N	0.990	N	1.27	L	1.48	T	-0.994	T	0.063	T	0.14	1.106	9.510	-1.49	-2.661	-0.082	3.562	0.071	.	0.0005	0.0115815	0.0068	0.0014	0.0006	0.0029	0	0.0001	0.0086	0.0423	0.0040103	620	154602	rs376720096	0.0020	0.0021	0.0012	0.0029	0.0322	0.0020	0.0020	0.0311	0.0307	0.0016	0.0002	0	0.0007	0	0.0018	9.422e-05	0.0022	0.0322	0.0011	0.0013	0.0006	0.0016	0.0351	0.0010	0.0009	0.0304	0.0286	0.0001	0	7.2e-05	0	0.0009	0	0	7.696e-05	0.0005	0.0351	0.003	0.68238	D	0.004	0.74150	D	0.716	0.42206	P	0.49	0.47330	P	0.302113	0.14580	N	0.592670	0.990055	0.24220	N	1.855	0.49169	L	1.48	0.31731	T	-2.45	0.53577	N	0.153	0.15749	-0.9941	0.31538	T	0.063	0.26279	T	10	0.0033101737	0.00057	T	.	.	.	0.071	0.20720	.	.	0.0986583533028	0.09354	0.05734998255072223	0.05675	0.944348631935	0.72353	0.430430352688	0.29267	T	0.007141	0.06556	T	-0.613012	0.00121	T	-0.628951	0.10493	T	0.0550535280420328	0.06366	T	0.763624	0.39028	T	0.11419236	0.26961	0.105558924	0.25378	0.11419236	0.26960	0.105558924	0.25377	-6.458	0.49961	T	.	.	0.108	0.20430	B	.	.	2.238433	0.28578	17.84	0.89056798902178669	0.18475	0.01262	0.04427	N	AEFBI	0.072963	0.14580	N	-1.50763245998338	0.01799	0.07884297	-1.75157275884775	0.00927	0.04149092	2.11194473648555E-6	0.01202	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.745	-1.49	0.08259	-1.297000	0.02867	-0.329000	0.09904	-0.756000	0.03544	0.000000	0.06391	0.000000	0.08366	0.044000	0.14658	0.36:0.209:0.431:0.0	3.562	0.07436	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease 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	0.05263	12855.56	315	chr8	12138430	.	G	A	12855.56	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.26;DP=4620;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.053;MQ=44.63;MQRankSum=0.580;QD=31.36;ReadPosRankSum=1.20;SOR=0.743	GT:AD:DP:GQ:PL	1/1:2,408:410:99:12882,1181,0	18	1	0	2
chr8	17027610	17027610	C	T	exonic	MICU3	.	nonsynonymous SNV	MICU3:NM_001349810:exon1:c.C331T:p.P111S	.	.	396	1078	41	7	0	55	0.0248756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.093	B	0.029	B	0.403	N	1.000	N	0.205	N	0.96	T	-1.021	T	0.048	T	0.094	0.408	6.215	2.43	0.975	0.039	8.086	0.013	.	.	0.00738818	0.1094	0	0.5	.	.	0.0789	.	0.1667	0.0013454	208	154602	rs200500624	0.0069	0.0065	0.0066	0.0072	0.0275	0.0068	0.0067	0.0262	0.0256	0.0009	0.0029	0.0306	0.0001	0.0049	0.0154	0.0060	0.0080	0.0275	0.0054	0.0054	0.0050	0.0058	0.0230	0.0051	0.0050	0.0195	0.0182	0.0011	0	0.0047	0.0323	0	0.0038	0.0034	0.0062	0.0071	0.0230	0.125	0.27310	T	0.603	0.07868	T	0.093	0.25333	B	0.029	0.21540	B	0.402710	0.13103	N	0.660243	1	0.08975	N	0.55	0.14455	N	0.96	0.42888	T	0.18	0.05035	N	0.173	0.18512	-1.0207	0.23486	T	0.048	0.20592	T	10	0.0014694929	0.00016	T	.	.	.	0.013	0.01715	.	.	0.0482279557977	0.04254	0.3599911044625781	0.35913	0.837194812772	0.67860	0.707130551338	0.68177	T	0.010703	0.09641	T	-0.530585	0.00381	T	-0.519989	0.20296	T	0.0405243162023735	0.03785	T	0.613539	0.23382	T	0.035434525	0.04169	0.07964865	0.17948	0.035434525	0.04168	0.07964865	0.17948	-3.528	0.16826	T	.	.	0.069	0.03231	B	.	.	1.446864	0.18675	13.86	0.89330916088496692	0.18705	0.02607	0.07180	N	AEFDBHCIJ	0.030292	0.03020	N	-1.24428004204296	0.04375	0.1973425	-1.2315283229291	0.05410	0.2577218	0.999999648656108	0.74766	0.009712	0.00066	3	0.435331	0.06439	0	0.239995	0.05000	1	0.621717	0.48901	0	.	.	3.31	2.43	0.28797	0.122000	0.15515	0.668000	0.20568	-0.178000	0.10482	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.2414:0.7586:0.0:0.0	8.086	0.29935	829	0.39537	.	.	.	.	.	.	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	0.09524	1684.9	25	chr8	17027610	.	C	T	1684.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.42;DP=617;ExcessHet=0.0082;FS=0.862;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=0.615;SOR=0.820	GT:AD:DP:GQ:PL	1/1:0,29:29:87:849,87,0	18	1	2	0
chr8	17874426	17874426	T	C	exonic	FGL1	.	nonsynonymous SNV	FGL1:NM_004467:exon4:c.A340G:p.M114V	.	.	429	1060	30	3	0	36	0.0166976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	2.765	M	1.78	T	-0.719	T	0.146	T	0.877	4.098	21.1	5.11	2.072	7.333	15.253	0.485	.	0.0052	0.00599042	0.0084	0.0007	0.0076	0	0.0060	0.0095	0.0154	0.0144	0.0003842	10	26028	rs35311020	0.0064	0.0065	0.0060	0.0069	0.0310	0.0063	0.0063	0.0273	0.0259	0.0009	0.0053	0.0384	0	0.0047	0.0310	0.0053	0.0088	0.0147	0.0060	0.0060	0.0059	0.0061	0.0159	0.0057	0.0055	0.0131	0.0120	0.0012	0	0.0040	0.0363	0	0.0044	0.0136	0.0077	0.0118	0.0159	0.008	0.58626	D	0.008	0.67890	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.071198	0.999992	0.58761	D	2.725	0.79712	M	1.78	0.25678	T	-2.8	0.59226	D	0.891	0.89020	-0.7191	0.59507	T	0.146	0.47021	T	10	0.010201037	0.00228	T	.	.	.	0.485	0.77399	.	.	0.301122078929	0.29733	0.5863605257373335	0.58566	.	.	0.591809689999	0.51749	T	0.027311	0.20030	T	-0.134255	0.30810	T	0.047	0.73366	D	0.0193578184801095	0.00640	T	0.833317	0.50212	T	0.72937727	0.79688	0.7215388	0.83557	0.72937727	0.79690	0.7215388	0.83557	-7.693	0.58959	D	.	.	0.386	0.59749	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.355095	0.66921	25.0	0.99438312256023687	0.64621	0.97972	0.78540	D	AEFBI	0.959981	0.98057	D	0.79914716100608	0.86051	8.763559	0.742853908507329	0.85621	8.635917	0.999999813152066	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.11	5.11	0.69188	7.340000	0.78530	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:0.0:1.0	15.253	0.73258	489	0.76795	Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain;Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain|Fibrinogen, alpha/beta/gamma chain, C-terminal globular 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	0.04762	2270.08	35	chr8	17874426	.	T	C	2270.08	.	AC=2;AF=0.048;AN=42;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=27.68;SOR=0.961	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2298,246,0	20	1	0	0
chr8	22281502	22281502	G	A	exonic	PIWIL2	.	nonsynonymous SNV	PIWIL2:NM_001135721:exon4:c.G412A:p.V138I	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.001	B	0.001	B	0.529	N	1.000	N	0.205	N	3.68	T	-0.927	T	0.007	T	0.03	0.498	6.699	-1.04	-0.165	-0.426	0.333	0.067	.	.	0.00219649	0.0013	0	0	0	0	0	0.0033	0.0099	0.0011578	179	154602	rs544698493	0.0006	0.0006	0.0003	0.0009	0.0103	0.0006	0.0006	0.0097	0.0095	0	3.037e-05	0	2.565e-05	0	0.0002	1.087e-05	0.0005	0.0103	0.0004	0.0004	0.0002	0.0006	0.0116	0.0003	0.0003	0.0092	0.0083	0	0	0.0001	0	0	0	0	4.412e-05	0	0.0116	0.602	0.05601	T	0.769	0.05018	T	0.001	0.07471	B	0.001	0.04355	B	0.529317	0.11656	N	0.757107	0.999974	0.18612	N	0.55	0.14455	N	3.68	0.04151	T	-0.01	0.07155	N	0.173	0.22998	-0.9269	0.44588	T	0.007	0.02321	T	10	0.004895836	0.00104	T	.	.	.	0.067	0.19503	0.245	0.17984	0.21279746466	0.20884	0.14544534189663996	0.14467	0.0556849363162	0.06156	0.286973148584	0.08484	T	0.029606	0.21175	T	-0.746954	0.00019	T	-0.838048	0.01128	T	0.0131848413034316	0.00233	T	0.657134	0.26688	T	0.024846176	0.01357	0.023149146	0.00330	0.024846176	0.01357	0.023149146	0.00330	-4.332	0.28623	T	.	.	0.070	0.05800	B	.;.;.;.	.;.;.;.	0.923567	0.12983	9.491	0.71654255260329325	0.09703	0.02288	0.06590	N	AEFBI	0.057509	0.10717	N	-0.831040293555224	0.12521	0.6108683	-0.749022203022093	0.15747	0.8296911	0.0188757765572567	0.13105	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	5.55	-1.04	0.09555	-0.387000	0.07419	-2.067000	0.04263	0.671000	0.69459	0.001000	0.13787	0.000000	0.08366	0.996000	0.76049	0.3374:0.1583:0.2723:0.232	0.333	0.00300	575	0.70088	.;.;.;.	.	.	.	.	.	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	0.04762	2553.08	35	chr8	22281502	.	G	A	2553.08	.	AC=2;AF=0.048;AN=42;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.39;SOR=1.347	GT:AD:DP:GQ:PL	1/1:0,84:84:99:2581,252,0	20	1	0	0
chr8	24394131	24394131	C	T	exonic	ADAMDEC1	.	nonsynonymous SNV	ADAMDEC1:NM_001145272:exon3:c.C110T:p.T37M	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.982	D	0.667	N	1.000	N	2.745	M	3.32	T	-1.093	T	0.062	T	0.116	1.115	9.548	1.37	0.341	-0.182	9.691	0.064	0.0112690887537	.	0.00139776	0.0010	0	0	0	0.0005	0.0002	0.0022	0.0065	0.0008797	136	154602	rs201994292	0.0005	0.0005	0.0003	0.0006	0.0059	0.0004	0.0004	0.0054	0.0053	8.978e-05	0	0	0.0003	0.0005	0.0009	9.548e-05	0.0004	0.0059	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	6.54e-05	0	0	0.0004	0	5.882e-05	0	0.0070	0.034	0.44694	D	0.005	0.72224	D	1.0	0.90584	D	0.982	0.75477	D	0.666723	0.10379	N	0.840931	1	0.08975	N	3.18	0.88827	M	3.32	0.06214	T	-4.48	0.77965	D	0.125	0.13198	-1.0929	0.05066	T	0.062	0.25780	T	10	0.006286919	0.00142	T	0.011269	0.28723	T	0.064	0.18567	.	.	0.397691132334	0.39381	0.46962166258635507	0.46881	0.348307638537	0.36705	0.256526768208	0.04485	T	0.052186	0.29091	T	-0.618821	0.00112	T	-0.65878	0.08349	T	0.245133193300279	0.22654	T	0.440756	0.12177	T	0.077936254	0.17718	0.13298295	0.31899	0.077936254	0.17718	0.13298295	0.31898	-6.494	0.51501	T	.	.	0.091	0.20857	B	.;.	.;.	1.292693	0.16934	12.86	0.99527021903719615	0.69591	0.03447	0.08590	N	AEFBI	0.120239	0.23432	N	-0.253498013086559	0.30963	1.731589	-0.503233056028406	0.22065	1.196643	1.43755596042531E-5	0.02871	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.46	1.37	0.21200	-0.220000	0.09220	-0.213000	0.10835	-0.981000	0.01897	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.5135:0.3995:0.087	9.691	0.39293	789	0.46346	Peptidase M12B, propeptide;.	.	.	.	.	.	Likely benign	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	0.04762	2493.08	42	chr8	24394131	.	C	T	2493.08	.	AC=2;AF=0.048;AN=42;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.40;SOR=0.846	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2521,245,0	20	1	0	0
chr8	25389218	25389218	C	T	exonic	DOCK5	.	nonsynonymous SNV	DOCK5:NM_024940:exon41:c.C4259T:p.S1420L,	.	.	433	1079	10	0	0	10	0.00461255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.976	D	0.725	P	0.670	N	1.000	N	1.355	L	3.77	T	-1.002	T	0.024	T	0.277	0.920	8.747	2.39	0.263	0.149	4.614	0.021	.	.	0.00698882	0.0039	0	0.0003	0	0	0.0001	0.0044	0.0278	0.0033893	524	154602	rs538914889	0.0017	0.0017	0.0010	0.0025	0.0277	0.0017	0.0017	0.0268	0.0264	8.961e-05	2.236e-05	0	0	9.363e-05	0.0016	2.788e-05	0.0017	0.0277	0.0010	0.0010	0.0005	0.0015	0.0304	0.0008	0.0008	0.0264	0.0249	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0304	0.058	0.37750	T	0.009	0.66756	D	0.005	0.12996	B	0.006	0.12133	B	0.669527	0.06028	N	1.148490	0.999996	0.08975	N	0.55	0.14455	N	3.77	0.03863	T	-3.32	0.66085	D	0.258	0.29197	-1.0021	0.29313	T	0.024	0.10013	T	10	0.004555881	0.00094	T	.	.	.	0.021	0.04004	.	.	0.148003135375	0.14442	0.16687287872706508	0.16607	0.0505951659452	0.05561	0.286010652781	0.08344	T	0.246798	0.61633	T	-0.57726	0.00200	T	-0.581699	0.14394	T	0.0665124168830825	0.08153	T	0.665133	0.27420	T	0.11612959	0.27394	0.15259407	0.35895	0.11612959	0.27394	0.15259407	0.35894	-6.962	0.53756	T	.	.	0.064	0.01786	B	.	.	1.586886	0.20298	14.68	0.98989223608187826	0.49902	0.11341	0.16569	N	AEFBI	0.114772	0.22594	N	-0.625462872691812	0.18183	0.9419051	-0.696320076719439	0.17053	0.9049724	0.218749099442898	0.18330	0.615465	0.37627	0	0.588066	0.40923	0	0.608884	0.39905	0	0.655142	0.61905	0	.	.	5.21	2.39	0.28492	0.040000	0.13791	1.321000	0.25603	0.599000	0.40250	0.000000	0.06391	0.112000	0.22806	0.585000	0.31016	0.264:0.5156:0.1475:0.0728	4.614	0.11805	472	0.77968	Dedicator of cytokinesis, C-terminal|DHR-2 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	0.02381	1328.98	35	chr8	25389218	.	C	T	1328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=810;ExcessHet=0.0000;FS=3.920;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=-1.235e+00;SOR=1.162	GT:AD:DP:GQ:PL	0/1:49,51:100:99:1343,0,1129	20	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.998	D	0.000	D	1.000	D	1.01	L	-1.48	T	-0.003	T	0.531	D	0.963	3.136	16.48	5.11	1.919	9.339	13.703	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2778	2023.96	49	chr8	28527857	.	A	C	2023.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-4.128e+00;DP=3491;ExcessHet=6.1002;FS=238.297;InbreedingCoeff=-0.3837;MLEAC=11;MLEAF=0.306;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=3.10;SOR=12.767	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:144,54:198:99:.:.:242,0,2913	8	0	10	3
chr8	30844900	30844900	-	A	exonic	TEX15	.	frameshift insertion	TEX15:NM_001350162:exon8:c.5266_5267insT:p.H1756Lfs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2432.94	33	chr8	30844900	.	T	TA	2432.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.864e+00;DP=994;ExcessHet=0.0000;FS=0.594;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=1.17;SOR=0.634	GT:AD:DP:GQ:PL	0/1:81,72:153:99:2447,0,2812	20	0	1	0
chr8	36784573	36784573	T	C	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon1:c.T163C:p.W55R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.84	T	0.001	B	0.002	B	.	.	1.000	N	1.245	L	1.65	T	-0.987	T	0.040	T	0.336	0.707	7.770	0.023	0.050	-0.231	1.363	0.040	0.00413765413026	.	.	0.0001	0.0001	0	0	0	0	0	0.0009	9.06e-05	14	154602	rs769775285	6.98e-05	6.977e-05	2.996e-05	0.0001	0.0010	5.849e-05	5.459e-05	0.0009	0.0008	0	0	0	2.52e-05	0	0.0002	1.799e-06	0.0001	0.0010	4.601e-05	4.597e-05	2.57e-05	6.727e-05	0.0008	2.11e-05	1.527e-05	0.0003	0.0002	4.827e-05	0	6.547e-05	0	0	0	0	0	0	0.0008	0.359	0.12226	T	0.298	0.20486	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	2.125	0.59049	M	1.65	0.28002	T	-1.16	0.35792	N	0.164	0.17278	-0.9869	0.33371	T	0.040	0.17020	T	9	0.03015834	0.01142	T	0.004138	0.09931	T	0.040	0.10527	0.578	0.70347	0.204665344411	0.20097	0.09103759594314138	0.09036	0.0276532361492	0.02828	0.323356389999	0.13929	T	0.054605	0.29771	T	-0.49809	0.00586	T	-0.551627	0.17169	T	0.0437602661550045	0.04377	T	0.259474	0.04134	T	0.049234554	0.08710	0.058695618	0.10888	0.049234554	0.08709	0.058695618	0.10888	-2.201	0.04045	T	.	.	0.186	0.49826	B	.;.	.;.	0.075398	0.04829	1.429	0.39477262648273631	0.02726	0.02012	0.06052	N	AEFI	0.044632	0.07205	N	-1.25268577356757	0.04264	0.192119	-1.26077449868011	0.04973	0.2359002	1.1546831009234E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.49	0.023	0.13454	-0.241000	0.08958	0.076000	0.14327	-0.121000	0.13915	0.003000	0.16062	0.002000	0.18203	0.005000	0.06747	0.3665:0.0862:0.1491:0.3983	1.363	0.02064	745	0.52414	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1306.98	33	chr8	36784573	.	T	C	1306.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.542e+00;DP=807;ExcessHet=0.0000;FS=5.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.043e+00;SOR=0.336	GT:AD:DP:GQ:PL	0/1:48,54:102:99:1321,0,1294	20	0	1	0
chr8	39963621	39963621	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon3:c.A152G:p.D51G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	B	0.004	B	0.090	N	0.961	N	1.665	L	0.84	T	-1.004	T	0.111	T	0.345	1.982	12.58	4.51	0.984	1.389	8.423	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	126.41	33	chr8	39963621	.	A	G	126.41	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.384e+00;DP=2478;ExcessHet=0.1072;FS=92.336;InbreedingCoeff=-0.0596;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=1.37;SOR=10.487	GT:AD:DP:GQ:PL	0/1:131,34:165:21:21,0,2324	19	0	2	0
chr8	42182852	42182852	G	T	exonic	PLAT	.	nonsynonymous SNV	PLAT:NM_001319189:exon6:c.C403A:p.R135S	Hyperfibrinolysis, familial, due to increased release of PLAT;Thrombophilia, familial, due to decreased release of PLAT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.872	P	0.000	D	1.000	D	3.41	M	-0.4	T	0.256	D	0.529	D	0.711	3.555	18.13	4.63	2.603	3.890	13.713	0.603	0.149882611604	.	.	1.654e-05	0	0	0	0	1.506e-05	0	6.087e-05	1.29e-05	2	154602	rs183443805	7.528e-06	7.525e-06	4.086e-06	1.1e-05	0.0007	4.04e-06	2.95e-06	0.0002	0.0001	0	0	0	0	0	0.0007	2.699e-06	0	4.64e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.79402	D	0.512	0.61523	P	0.564	0.61918	P	0.000000	0.84330	D	0.053255	0.999994	0.58761	D	3.755	0.95055	H	-0.4	0.69287	T	-3.8	0.86222	D	0.732	0.79214	0.256	0.86836	D	0.529	0.82482	D	10	0.9574263	0.95116	D	0.149883	0.83164	D	0.603	0.84345	0.839	0.94541	0.839843563635	0.83831	0.8095402449255598	0.80909	0.696995008883	0.60873	0.317899942398	0.13103	T	0.310079	0.68206	T	0.0406081	0.57126	T	0.0241541	0.71900	D	0.980591595172882	0.73444	D	0.871813	0.63576	D	0.8468909	0.87107	0.62428683	0.78103	0.8468909	0.87108	0.62428683	0.78104	-10.779	0.79234	D	.	.	0.506	0.75127	A	.;.;.;.;.;.	.;.;.;.;.;.	4.135763	0.61922	24.4	0.99750548550473339	0.84228	0.99305	0.94239	D	ALL	0.678513	0.64285	D	0.544581462087872	0.69751	5.401882	0.489732466220483	0.67309	5.066665	0.999999999999779	0.74766	0.706548	0.73137	0	0.518115	0.08659	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.51	4.63	0.57175	3.893000	0.55955	8.617000	0.77794	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.513000	0.29313	0.075:0.0:0.925:0.0	13.713	0.62158	396	0.82953	Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle;.;Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle;Kringle|Kringle|Kringle|Kringle	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1620.98	33	chr8	42182852	.	G	T	1620.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.07;DP=848;ExcessHet=0.0000;FS=5.382;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.530e-01;SOR=1.144	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1635,0,1545	20	0	1	0
chr8	60742499	60742499	A	G	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_001316690:exon1:c.A1067G:p.N356S	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.001	B	0.035	N	0.810	N	0.895	L	2.08	T	-0.879	T	0.248	T	0.057	0.644	7.460	-0.743	-0.339	0.520	10.164	0.088	0.0453122799724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.28646	T	0.439	0.13595	T	0.0	0.02946	B	0.001	0.04355	B	0.034764	0.24728	N	0.291123	0.824554	0.29017	N	-0.345	0.03330	N	-1.42	0.80645	T	-0.56	0.27463	N	0.175	0.18784	-0.8791	0.49833	T	0.248	0.61785	T	10	0.09777632	0.17634	T	0.045312	0.61921	D	0.088	0.25558	0.213	0.13210	0.55389084163	0.55047	0.17623835270004404	0.17542	0.0813104845112	0.09147	0.301614105701	0.10641	T	0.078802	0.35979	T	-0.193142	0.21797	T	-0.515212	0.20781	T	0.100530375086498	0.12416	T	0.754025	0.40135	T	0.02526135	0.01445	0.041012846	0.04563	0.02526135	0.01444	0.041012846	0.04563	-2.868	0.08828	T	.	.	0.052	0.01143	B	.;.;.	.;.;.	0.450793	0.08207	4.946	0.81373758136942109	0.13653	0.33048	0.24734	N	AEFDGBCI	0.031888	0.03496	N	-0.759457557939838	0.14377	0.7157102	-0.66150096692734	0.17927	0.9554136	0.999451251011823	0.39788	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.67	-0.743	0.10545	0.529000	0.22727	1.433000	0.26463	-0.053000	0.16966	0.997000	0.40164	0.998000	0.33993	0.998000	0.85391	0.6942:0.0:0.3058:0.0	10.164	0.42044	868	0.31772	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2685.98	33	chr8	60742499	.	A	G	2685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=1013;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=0.981;SOR=0.755	GT:AD:DP:GQ:PL	0/1:100,99:199:99:2700,0,2646	20	0	1	0
chr8	60781383	60781383	-	AAAGCA	exonic	CHD7	.	nonframeshift insertion	CHD7:NM_017780:exon3:c.2049_2050insAAAGCA:p.K686_T687insAK,	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	.	3	1501	18	0	0	18	0.00596026	.	.	101673	not_specified|CHARGE_syndrome|not_provided|Inborn_genetic_diseases|Hypogonadism_with_anosmia	MedGen:CN169374|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0018800,MedGen:C0162809,Orphanet:478	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0091	0.00339457	0.0068	0.0038	0.0085	0	0.0010	0.0117	0.0033	0.0005	0.0017673	46	26028	rs377139749	0.0101	0.0098	0.0104	0.0099	0.0119	0.0100	0.0099	0.0117	0.0116	0.0015	0.0071	0.0053	0	0.0035	0.0085	0.0119	0.0091	0.0012	0.0077	0.0077	0.0077	0.0077	0.0119	0.0073	0.0072	0.0112	0.0110	0.0021	0.0581	0.0100	0.0046	0	0.0030	0.0034	0.0119	0.0076	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1832.94	39	chr8	60781383	.	G	GAAAGCA	1832.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.276;DP=909;ExcessHet=0.0000;FS=2.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-3.070e-01;SOR=0.962	GT:AD:DP:GQ:PL	0/1:83,51:134:99:1847,0,3300	20	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	1.0	D	0.994	D	0.000	D	0.999	D	1.1	L	.	.	-0.632	T	0.303	T	0.823	4.580	24.9	5.98	2.835	6.699	18.639	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1316	133.13	53	chr8	66493691	.	G	C	133.13	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.170e+00;DP=1181;ExcessHet=1.1607;FS=144.686;InbreedingCoeff=-0.1900;MLEAC=5;MLEAF=0.132;MQ=59.63;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.07;SOR=10.685	GT:AD:DP:GQ:PL	0/1:41,19:60:38:38,0,638	14	0	5	2
chr8	66835779	66835779	G	A	exonic	C8orf44-SGK3;SGK3	.	nonsynonymous SNV	SGK3:NM_001033578:exon9:c.G542A:p.R181Q	.	.	.	.	.	.	.	.	.	.	.	3321624	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.15	T	0.539	P	0.23	B	0.001	D	0.925	D	0.18	N	-0.15	T	-0.742	T	0.136	T	0.368	3.154	16.55	4.76	1.393	4.912	14.585	0.060	0.0106774098913	.	.	1.665e-05	0	0	0	0	3.022e-05	0	0	1.29e-05	2	154602	rs764236858	1.233e-05	1.231e-05	1.363e-05	1.102e-05	1.53e-05	7.71e-06	6.36e-06	9.32e-06	7.62e-06	0	0	0	0	0	0	1.53e-05	0	1.171e-05	1.315e-05	1.314e-05	1.285e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.044	0.46129	D	0.181	0.30339	T	0.539	0.37887	P	0.23	0.38212	B	0.000709	0.42254	D	0.230542	.	.	.	1.045	0.26769	L	-0.15	0.65192	T	-0.94	0.27876	N	0.518	0.55540	-0.7415	0.58376	T	0.136	0.45222	T	9	0.2206997	0.38774	T	0.010677	0.27493	T	0.060	0.17295	0.441	0.49648	0.517158968016	0.51359	0.5787332730474167	0.57802	0.790129032098	0.65741	0.748882055283	0.74282	T	0.201661	0.55960	T	-0.0670317	0.41799	T	-0.270417	0.47777	T	0.464323962436283	0.31323	T	0.971103	0.90777	D	0.26384938	0.49450	0.15032123	0.35457	0.26384938	0.49450	0.15032123	0.35456	-9.642	0.71740	D	.	.	0.140	0.43815	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.704423	0.93134	33	0.99701134273079173	0.80660	0.94253	0.60581	D	AEFIJ	0.553853	0.56494	D	0.0314810974492419	0.43292	2.62496	0.19151166970117	0.49381	3.141955	0.985339893797825	0.30869	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.63	4.76	0.60189	5.023000	0.63858	9.962000	0.82803	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0704:0.0:0.9296:0.0	14.585	0.67912	746	0.52331	Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;.;.;Protein kinase domain|Protein kinase, ATP binding site|Protein kinase domain|Protein kinase domain|Serine/threonine-protein kinase Sgk3, catalytic domain;Protein kinase domain|Protein kinase, ATP binding site|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	0	0	0	0	0	0	0	0	0	0	0	0.02381	674.98	36	chr8	66835779	.	G	A	674.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.869e+00;DP=750;ExcessHet=0.0000;FS=1.049;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.467;SOR=0.474	GT:AD:DP:GQ:PL	0/1:24,31:55:99:689,0,600	20	0	1	0
chr8	72937418	72937418	A	G	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon3:c.A2063G:p.H688R,	.	.	432	1024	60	5	1	71	0.03305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.579	P	0.288	B	0.447	N	1.000	N	0.69	N	2.16	T	-1.042	T	0.036	T	0.215	-0.716	0.922	2.15	0.250	1.190	7.771	0.031	.	0.0018	0.00579073	0.0060	0.0002	0.0014	0.0001	0.0002	0.0024	0.0077	0.0324	0.0052134	806	154602	rs148879809	0.0034	0.0034	0.0025	0.0043	0.0305	0.0033	0.0033	0.0295	0.0291	0.0001	0.0014	0.0093	7.558e-05	0.0003	0.0201	0.0014	0.0048	0.0305	0.0024	0.0024	0.0019	0.0030	0.0305	0.0022	0.0022	0.0265	0.0250	0.0002	0	0.0020	0.0098	0.0002	9.438e-05	0.0068	0.0020	0.0047	0.0305	0.167	0.23095	T	0.393	0.15355	T	0.579	0.38789	P	0.288	0.40614	B	0.447423	0.12550	N	0.645143	0.999796	0.20333	N	0.755	0.19153	N	2.16	0.19166	T	0.17	0.05125	N	0.194	0.21319	-1.0423	0.16621	T	0.036	0.15640	T	10	0.0031713843	0.00053	T	.	.	.	0.031	0.07369	.	.	0.449242652821	0.44546	0.2769550992391696	0.27608	0.678472507498	0.59887	0.326055109501	0.14337	T	0.072245	0.34406	T	-0.586394	0.00176	T	-0.592094	0.13486	T	0.0182838058385119	0.00547	T	0.329367	0.06881	T	0.031181686	0.02911	0.04825675	0.07130	0.031181686	0.02911	0.04825675	0.07129	-3.165	0.12058	T	.	.	0.066	0.02145	B	.	.	0.497220	0.08661	5.435	0.83565526180723326	0.14796	0.44910	0.27422	N	AEFBI	0.231181	0.35445	N	-0.568358184222436	0.19911	1.045796	-0.633352496499007	0.18638	0.996561	0.027996616103475	0.13806	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.564101	0.26826	0	.	.	4.65	2.15	0.26590	1.870000	0.39166	1.146000	0.24443	0.691000	0.84096	0.046000	0.21249	0.025000	0.21018	0.780000	0.36908	0.7174:0.1446:0.0:0.138	7.771	0.28173	849	0.35778	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	6278.68	34	chr8	72937418	.	A	G	6278.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.776;DP=1285;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.43;ReadPosRankSum=0.379;SOR=0.658	GT:AD:DP:GQ:PL	0/1:91,63:154:99:1518,0,2310	18	0	3	0
chr8	79765369	79765369	G	T	exonic	HEY1	.	nonsynonymous SNV	HEY1:NM_001282851:exon2:c.C464A:p.T155N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.302	B	0.055	B	0.000	D	1.000	D	1.795	L	0.57	T	-0.864	T	0.193	T	0.261	3.112	16.40	5.7	2.685	5.241	19.827	0.102	0.0130674806489	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1289917435	2.086e-06	2.052e-06	0	4.205e-06	3.589e-05	5.6e-07	1.5e-07	9.53e-06	4.64e-06	0	0	0	0	0	0	0	0	3.589e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.55530	D	0.113	0.41405	T	0.282	0.32608	B	0.051	0.25995	B	0.000387	0.44960	D	0.270896	0.999936	0.58761	D	2.005	0.54552	M	0.25	0.59449	T	-1.31	0.36586	N	0.285	0.47672	-0.8644	0.50944	T	0.193	0.54579	T	10	0.18049103	0.33236	T	0.013067	0.32181	T	0.102	0.29158	0.12	0.02719	0.294470080753	0.29051	0.5259029440075522	0.52514	0.824600543176	0.67326	0.620183467865	0.55755	T	0.404605	0.76102	T	-0.0519221	0.44154	T	-0.312359	0.43404	T	0.328567432834821	0.26167	T	0.89671	0.63922	D	0.28653693	0.51669	0.43119317	0.66745	0.28653693	0.51668	0.43119317	0.66745	-4.917	0.36215	T	.	.	0.125	0.45653	B	.;.;.	.;.;.	4.113847	0.61441	24.3	0.97844783684687975	0.36352	0.86170	0.45400	D	ALL	0.819877	0.74080	D	0.212973814190206	0.51829	3.361057	0.366071499883373	0.59483	4.126395	1.0	0.98316	0.443343	0.08805	1	0.374146	0.05931	1	0.666236	0.60216	0	0.241949	0.04745	2	.	.	5.7	5.7	0.88690	5.389000	0.66004	11.804000	0.96737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.827	0.96617	918	0.19598	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	442.98	35	chr8	79765369	.	G	T	442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.843e+00;DP=752;ExcessHet=0.0000;FS=3.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.84;ReadPosRankSum=0.585;SOR=1.577	GT:AD:DP:GQ:PL	0/1:15,17:32:99:457,0,472	20	0	1	0
chr8	80030106	80030106	C	G	exonic	MRPS28	.	nonsynonymous SNV	MRPS28:NM_014018:exon1:c.G143C:p.R48P,	.	.	429	1062	29	2	0	33	0.015299	.	.	2821158	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.34	T	0.004	B	0.005	B	0.961	N	1.000	N	0.975	L	0.82	T	-1.017	T	0.065	T	0.321	1.704	11.66	2.51	0.369	1.404	5.479	0.007	.	0.0080	0.00239617	0.0088	0.0023	0.0050	0	0.0116	0.0128	0.0117	0.0031	0.0080529	1245	154602	rs78308259	0.0094	0.0094	0.0093	0.0095	0.0163	0.0093	0.0092	0.0136	0.0126	0.0010	0.0050	0.0261	0	0.0083	0.0163	0.0102	0.0106	0.0029	0.0081	0.0081	0.0078	0.0084	0.0114	0.0077	0.0076	0.0108	0.0105	0.0019	0	0.0090	0.0225	0	0.0105	0.0204	0.0114	0.0110	0.0025	0.226	0.91255	T	0.281	0.92824	T	0.004	0.12183	B	0.005	0.11217	B	0.961380	0.08221	N	0.979032	1	0.18878	N	2.05	0.56469	M	0.82	0.48142	T	-0.56	0.93697	N	0.506	0.68863	-1.0168	0.24755	T	0.065	0.26843	T	10	0.004265368	0.00085	T	.	.	.	0.057	0.16321	.	.	0.488548280593	0.48485	0.5342502840895554	0.53350	0.584147767262	0.54101	0.396920323372	0.24641	T	0.004554	0.41509	T	-0.446829	0.01179	T	-0.403584	0.32968	T	0.0320554668673206	0.02315	T	0.748325	0.38135	T	0.11870633	0.27964	0.13364293	0.32043	0.11870633	0.27964	0.13364293	0.32042	-3.845	0.21478	T	.	.	0.127	0.47611	B	.;.	.;.	2.527780	0.32673	19.11	0.97958083176444199	0.37158	0.10285	0.15834	N	ALL	0.331395	0.43114	N	-0.9141218024309	0.10511	0.5026362	-0.881962277159462	0.12521	0.6445688	0.999999999993672	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.28	2.51	0.29435	0.938000	0.28562	2.058000	0.30379	-0.202000	0.08738	0.193000	0.24225	0.518000	0.25293	0.004000	0.06068	0.0:0.6604:0.1633:0.1763	5.479	0.16004	922	0.19044	.;.	.	.	.	.	.	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	0.02381	1273.98	34	chr8	80030106	.	C	G	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.187e+00;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=0.705;SOR=0.734	GT:AD:DP:GQ:PL	0/1:70,56:126:99:1288,0,1752	20	0	1	0
chr8	86064021	86064021	T	G	exonic	PSKH2	.	nonsynonymous SNV	PSKH2:NM_033126:exon2:c.A796C:p.S266R,	.	.	425	1040	55	2	0	59	0.027583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.91	P	0.821	P	.	.	1.000	N	1.78	L	0.94	T	-0.863	T	0.196	T	0.332	3.855	19.58	4.98	1.850	7.510	12.616	0.124	.	0.0030	0.00898562	0.0097	0.0015	0.0038	0.0001	0.0039	0.0050	0.0055	0.0453	0.0087192	1348	154602	rs34037815	0.0065	0.0065	0.0052	0.0078	0.0467	0.0064	0.0063	0.0455	0.0450	0.0015	0.0029	0.0110	0.0001	0.0031	0.0250	0.0038	0.0078	0.0467	0.0046	0.0046	0.0040	0.0053	0.0437	0.0043	0.0042	0.0389	0.0370	0.0012	0.0198	0.0041	0.0115	0	0.0037	0.0204	0.0040	0.0038	0.0437	0.001	0.78490	D	0.038	0.51421	D	0.91	0.50240	P	0.821	0.59116	P	.	.	.	.	0.962919	0.26046	N	2.2	0.62015	M	0.94	0.43672	T	-2.16	0.48850	N	0.319	0.35938	-0.8626	0.51075	T	0.196	0.55056	T	9	0.0032428503	0.00055	T	.	.	.	0.124	0.34239	0.192	0.10304	0.657976263744	0.65511	0.24922915946039909	0.24836	0.328627424964	0.34968	0.406651437283	0.25993	T	0.003406	0.02809	T	-0.442804	0.01245	T	-0.375977	0.36192	T	0.0261478254670413	0.01425	T	0.885811	0.61165	D	0.5636708	0.70712	0.586686	0.76028	0.5636708	0.70713	0.586686	0.76029	-6.148	0.47501	T	.	.	0.324	0.54782	B	.	.	3.875295	0.56290	23.7	0.99816952669844872	0.90061	0.97336	0.74107	D	AEFBIJ	0.878919	0.80449	D	0.570515308461417	0.71340	5.635989	0.553274389585351	0.71626	5.683463	0.999999998835541	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.98	4.98	0.65679	7.492000	0.80315	3.025000	0.36018	0.665000	0.62972	1.000000	0.71638	0.997000	0.33255	0.985000	0.61073	0.0:0.0:0.0:1.0	12.616	0.55934	487	0.76954	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	0.07143	3717.68	41	chr8	86064021	.	T	G	3717.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.072e+00;DP=1038;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=0.579;SOR=0.708	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1481,0,1426	18	0	3	0
chr8	99832589	99832589	A	G	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon52:c.A9626G:p.E3209G	Cohen syndrome, Autosomal recessive	.	1	1517	4	0	0	4	0.00131666	.	.	195099	not_specified|Cohen_syndrome|Inborn_genetic_diseases|not_provided	MedGen:CN169374|MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.877	P	0.339	B	0.000	D	1.000	D	1.795	L	-0.51	T	-0.411	T	0.303	T	0.615	3.164	16.58	5.62	2.133	8.548	15.834	0.295	0.0813262142029	.	.	8.25e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs772361332	1.3e-05	1.3e-05	1.225e-05	1.375e-05	0.0004	8.31e-06	6.7e-06	6.147e-05	2.542e-05	0	0	0	0	0	0.0004	1.169e-05	6.624e-05	0	6.579e-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	0.479	0.08609	T	0.015	0.61642	D	0.449	0.48223	B	0.154	0.42346	B	0.000021	0.62929	D	0.113071	0.999997	0.81001	D	2.175	0.60977	M	-0.51	0.70597	T	-1.19	0.30346	N	0.641	0.65330	-0.4114	0.71666	T	0.303	0.67437	T	10	0.5129478	0.62203	D	0.081326	0.73659	D	0.295	0.61502	0.292	0.25400	0.752235233162	0.74999	0.43273283452259526	0.43190	0.297577027821	0.32142	0.393261760473	0.24129	T	0.071056	0.34113	T	-0.00326752	0.51204	T	-0.134813	0.60564	T	0.785687267780304	0.45409	D	0.875612	0.58729	D	0.151594	0.34453	0.19103438	0.42540	0.151594	0.34453	0.19103438	0.42539	-2.561	0.06212	T	0.3351887635949958	0.43312	0.174	0.38516	B	.;.	.;.	4.089575	0.60902	24.3	0.99438598787388432	0.64621	0.98752	0.86398	D	AEFDBCIJ	0.884391	0.81405	D	0.435373937400864	0.63378	4.570457	0.530433067662456	0.70049	5.448189	0.999999999885341	0.74766	0.615465	0.37627	0	0.522029	0.08744	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.62	5.62	0.85714	8.256000	0.89785	11.309000	0.92418	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	15.834	0.78564	473	0.77910	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	4004.98	40	chr8	99832589	.	A	G	4004.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.661e+00;DP=1121;ExcessHet=0.0000;FS=1.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-8.690e-01;SOR=0.574	GT:AD:DP:GQ:PL	0/1:147,155:302:99:4019,0,3930	20	0	1	0
chr8	100709595	100709595	C	T	exonic	PABPC1	.	nonsynonymous SNV	PABPC1:NM_002568:exon8:c.G1109A:p.R370H,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.94	D	0.000	D	1.000	D	2.62	M	3.32	T	-1.092	T	0.070	T	0.824	5.532	35	5.05	2.507	6.018	18.772	0.364	0.0327645234	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs777648449	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	0	6.566e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.006	0.72224	D	1.0	0.90584	D	0.94	0.67560	D	0.000011	0.62929	D	0.000000	1	0.81001	D	2.715	0.79425	M	3.32	0.06214	T	-4.63	0.79229	D	0.424	0.46368	-1.0924	0.05144	T	0.070	0.28642	T	10	0.48672563	0.60752	T	0.032765	0.54504	D	0.364	0.68407	0.52	0.62217	0.725504778507	0.72307	0.7257685634990524	0.72520	2.66104356415	0.98468	0.862830400467	0.91528	D	0.47555	0.80655	T	0.110	0.65310	D	-0.0803442	0.64879	T	0.998231470584869	0.93588	D	0.829317	0.49576	T	0.75585335	0.81209	0.50881344	0.71614	0.75585335	0.81211	0.50881344	0.71614	-11.389	0.81748	D	.	.	0.988	0.95290	P	.;.;.;.	.;.;.;.	5.326520	0.89396	30	0.9995309862779701	0.99957	0.94784	0.62318	D	AEFGBHCI	0.865084	0.78407	D	0.788574106191007	0.85383	8.56032	0.743644292049192	0.85682	8.65382	1.0	0.98316	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	6.120000	0.71312	4.070000	0.41657	-0.177000	0.10537	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.772	0.91860	265	0.89590	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	51.98	152	chr8	100709595	.	C	T	51.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.196e+00;DP=2489;ExcessHet=0.0000;FS=4.129;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.38;MQRankSum=-6.612e+00;QD=0.26;ReadPosRankSum=-8.550e-01;SOR=0.362	GT:AD:DP:GQ:PL	0/1:171,26:197:66:66,0,6676	20	0	1	0
chr8	106706810	106706810	T	C	exonic	OXR1	.	nonsynonymous SNV	OXR1:NM_181354:exon7:c.T1268C:p.F423S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.063	B	0.055	B	0.571	N	1.000	N	1.04	L	2.87	T	-0.978	T	0.036	T	0.162	-0.447	1.928	3.28	0.406	-0.073	6.070	0.025	0.00853392848364	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.25768	T	0.532	0.10103	T	0.002	0.23376	B	0.005	0.25995	B	0.571347	0.05481	N	1.193000	1	0.08975	N	1.61	0.41143	L	2.86	0.20959	T	0.05	0.06369	N	0.03	0.01004	-0.9779	0.35481	T	0.036	0.15726	T	10	0.039369136	0.02422	T	0.008534	0.22557	T	0.025	0.05312	0.342	0.33464	0.214338557667	0.21045	0.20414310936132063	0.20331	0.174530894445	0.19656	0.259508758783	0.04833	T	0.013708	0.11803	T	-0.233545	0.16181	T	-0.573247	0.15152	T	0.0774800583284357	0.09662	T	0.833317	0.50212	T	0.07553255	0.17023	0.06047643	0.11525	0.07553255	0.17022	0.06047643	0.11524	-1.34	0.02109	T	.	.	0.071	0.07083	B	.;.;.;.;.	.;.;.;.;.	0.881362	0.12544	9.075	0.67860184251883593	0.08482	0.05908	0.11860	N	AEFBI	0.048762	0.08354	N	-0.940326402086316	0.09912	0.4712271	-0.884760440935278	0.12455	0.6407422	0.869493445534621	0.25386	0.719381	0.83141	0	0.723133	0.82719	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.76	3.28	0.36691	-0.090000	0.11129	-0.285000	0.10238	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.925000	0.46118	0.0:0.098:0.3024:0.5996	6.070	0.19109	898	0.25240	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1986.98	84	chr8	106706810	.	T	C	1986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.734;DP=916;ExcessHet=0.0000;FS=1.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.749;SOR=0.799	GT:AD:DP:GQ:PL	0/1:96,75:171:99:2001,0,2602	20	0	1	0
chr8	109575109	109575109	C	A	exonic	SYBU	.	nonsynonymous SNV	SYBU:NM_001330596:exon5:c.G1399T:p.G467C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.008	B	0.015	B	0.689	N	1.000	N	0.95	L	.	.	-1.007	T	0.071	T	0.334	-0.047	3.774	1.1	0.123	0.931	2.133	0.080	0.00261922234408	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485441798	8.9e-06	8.893e-06	6.81e-06	1.101e-05	0.0003	4.97e-06	3.83e-06	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	3.6e-06	4.972e-05	4.643e-05	1.314e-05	1.313e-05	2.569e-05	0	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	0.148	0.26409	T	0.172	0.33780	T	0.008	0.14655	B	0.015	0.17295	B	0.689025	0.06135	N	1.132360	0.999997	0.08975	N	1.385	0.34509	L	.	.	.	-0.64	0.19085	N	0.146	0.23506	-1.0067	0.27943	T	0.071	0.28871	T	9	0.0806762	0.13121	T	0.002619	0.05320	T	0.080	0.23350	0.359	0.36222	0.345632371893	0.34166	0.4042819461765728	0.40344	0.282615546038	0.30717	0.279431700706	0.07413	T	0.022665	0.22553	T	-0.206451	0.19882	T	-0.433699	0.29517	T	0.0300418757097985	0.01996	T	0.844516	0.52185	T	0.09519203	0.22398	0.047689617	0.06923	0.09519203	0.22398	0.047689617	0.06922	-7.493	0.57856	T	.	.	0.119	0.25978	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.469787	0.18935	14.00	0.87703859988569932	0.17420	0.25517	0.22722	N	AEFDBI	0.471702	0.51713	N	-0.830976146954366	0.12523	0.6109584	-0.83653045855147	0.13611	0.7070632	0.819189070283949	0.24493	0.554377	0.28877	0	0.541556	0.11502	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.97	1.1	0.19578	0.967000	0.28941	-0.112000	0.11818	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.125:0.4831:0.1213:0.2706	2.133	0.03527	749	0.51929	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1866.98	33	chr8	109575109	.	C	A	1866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-01;DP=837;ExcessHet=0.0000;FS=3.968;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-7.120e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/1:69,72:141:99:1881,0,1899	20	0	1	0
chr8	124039935	124039935	G	A	exonic	FER1L6	.	nonsynonymous SNV	FER1L6:NM_001039112:exon20:c.G2518A:p.A840T,	.	.	425	1059	35	3	0	41	0.0189903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.999	D	0.000	U	1.000	D	3.6	H	-0.47	T	0.236	D	0.489	T	0.854	5.594	35	5.64	2.637	9.380	18.473	0.573	.	0.0052	0.00579073	0.0060	0.0005	0.0029	0	0.0023	0.0070	0.0033	0.0119	0.0058667	907	154602	rs142217401	0.0060	0.0060	0.0057	0.0064	0.0184	0.0059	0.0059	0.0155	0.0145	0.0016	0.0026	0.0310	0	0.0025	0.0184	0.0055	0.0076	0.0117	0.0052	0.0052	0.0052	0.0053	0.0128	0.0049	0.0048	0.0103	0.0094	0.0010	0	0.0068	0.0346	0	0.0042	0.0102	0.0061	0.0038	0.0128	0.004	0.65419	D	0.005	0.72224	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	U	0.000000	1	0.81001	D	3.385	0.91502	M	-0.47	0.70133	T	-2.98	0.62008	D	0.743	0.74280	0.236	0.86505	D	0.489	0.80570	T	10	0.009503335	0.00214	T	.	.	.	0.573	0.82686	.	.	0.500678981321	0.49703	0.49789396815745735	0.49710	0.508400521286	0.48994	0.630729317665	0.57248	T	0.371066	0.73549	T	-0.0170175	0.49277	T	0.213167	0.83826	D	0.0513036213528473	0.05727	T	0.968103	0.88413	D	0.38378093	0.59588	0.51439893	0.71942	0.38378093	0.59589	0.51439893	0.71942	-11.287	0.81209	D	.	.	0.749	0.74994	P	.	.	5.545356	0.92002	32	0.99946500699424612	0.99901	0.93654	0.58812	D	ALL	0.893354	0.83121	D	1.02785673737034	0.96537	14.81895	0.962320638862546	0.97756	16.70569	1.0	0.98316	0.549168	0.22868	0	0.59043	0.45803	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	5.64	5.64	0.86480	9.968000	0.99102	11.689000	0.94328	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.0:1.0:0.0	18.473	0.90727	686	0.59327	C2 domain|C2 domain|C2 domain|Ferlin, fourth C2 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	0.04762	6337.11	38	chr8	124039935	.	G	A	6337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.32;DP=1175;ExcessHet=0.1072;FS=1.105;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.177;SOR=0.817	GT:AD:DP:GQ:PL	0/1:91,127:218:99:3179,0,2189	19	0	2	0
chr8	132010871	132010871	G	C	exonic	EFR3A	.	nonsynonymous SNV	EFR3A:NM_001323553:exon23:c.G2334C:p.K778N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	1.0	D	0.997	D	0.000	D	1.000	D	1.115	L	1.39	T	-1.032	T	0.165	T	0.358	3.812	19.36	6.02	2.857	7.403	19.525	0.153	0.0112115321271	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.09291	T	0.331	0.18505	T	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.045609	1	0.81001	D	1.5	0.37844	L	1.39	0.33842	T	-1.42	0.34992	N	0.644	0.66187	-1.0316	0.19937	T	0.165	0.50323	T	10	0.3977828	0.55351	T	0.011212	0.28600	T	0.153	0.40148	0.323	0.30387	0.671013503938	0.66823	0.5213184564664413	0.52054	0.403179438654	0.41262	0.826878428459	0.86083	D	0.01412	0.19191	T	-0.0782944	0.39993	T	-0.350241	0.39179	T	0.901563823223114	0.55432	D	0.946205	0.79443	D	0.38296613	0.59530	0.24603723	0.50104	0.38296613	0.59531	0.24603723	0.50103	-8.505	0.64462	D	.	.	0.885	0.86088	P	.;.;.	.;.;.	4.272375	0.65018	24.8	0.9978335014773505	0.86955	0.98829	0.87402	D	AEFGBI	0.883251	0.81200	D	0.678002983385951	0.78189	6.822127	0.731837545398783	0.84796	8.392965	0.999999999974235	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.727631	0.95156	0	.	.	6.02	6.02	0.97559	7.394000	0.79135	4.508000	0.43636	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.525	0.95196	871	0.31377	.;.;.	.	.	.	.	.	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	0.25	690.63	84	chr8	132010871	.	G	C	690.63	.	AC=7;AF=0.250;AN=28;BaseQRankSum=-3.452e+00;DP=3010;ExcessHet=2.5830;FS=194.769;InbreedingCoeff=-0.3327;MLEAC=9;MLEAF=0.321;MQ=60.00;MQRankSum=0.00;QD=0.65;ReadPosRankSum=1.12;SOR=12.620	GT:AD:DP:GQ:PL	0/1:104,47:156:99:189,0,1763	7	0	7	7
chr8	142913390	142913390	A	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon6:c.T1016A:p.I339N,	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	YES	0	1408	68	3	43	117	0.0256055	.	.	313457	not_provided|Glucocorticoid-remediable_aldosteronism|Corticosterone_methyloxidase_type_2_deficiency|Corticosterone_18-monooxygenase_deficiency	MedGen:C3661900|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.36	T	0.0	B	0.0	B	0.003	N	0.000	P	0.125	N	-0.28	T	-0.986	T	0.112	T	0.154	0.682	7.646	3.74	0.794	1.015	4.697	0.055	.	.	0.00539137	0.0035	0	0.0012	0.0006	0.0002	0.0006	0.0022	0.0219	0.0029754	460	154602	rs4544	0.0016	0.0016	0.0010	0.0022	0.0206	0.0016	0.0015	0.0198	0.0194	0.0002	0.0008	0.0007	0.0004	1.879e-05	0.0078	0.0003	0.0018	0.0206	0.0010	0.0010	0.0006	0.0015	0.0199	0.0009	0.0008	0.0167	0.0155	7.236e-05	0	0.0007	0.0006	0.0002	0	0.0102	0.0005	0.0009	0.0199	0.074	0.34621	T	0.386	0.15698	T	0.0	0.02946	B	0.0	0.01387	B	0.003267	0.35183	N	0.129102	0.999554	0.20991	P	-0.345	0.03330	N	-0.28	0.67543	T	-0.08	0.08187	N	0.17	0.18103	-0.9861	0.33566	T	0.112	0.40168	T	9	0.020480663	0.00473	T	.	.	.	0.055	0.15663	.	.	0.392239652056	0.38839	0.7807455489331263	0.78025	0.399629525526	0.40983	0.660252928734	0.61446	T	0.087593	0.37975	T	-0.512246	0.00488	T	-0.492326	0.23148	T	0.0066171016284321	0.00074	T	0.328667	0.06851	T	0.20084515	0.42074	0.13601667	0.32550	0.39012992	0.60042	0.16626196	0.38418	-3.864	0.21764	T	.	.	0.081	0.08033	B	.	.	3.043909	0.40817	21.2	0.93745159411013268	0.23683	0.03483	0.08646	N	AEFDGBI	0.034672	0.04335	N	-0.96610948516903	0.09335	0.4413613	-0.876511995914212	0.12651	0.6520281	0.00385800859355537	0.10307	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.74	3.74	0.42108	0.599000	0.23788	8.999000	0.78526	-0.103000	0.15852	0.000000	0.06391	1.000000	0.68203	0.192000	0.21661	0.1139:0.0:0.6733:0.2128	4.697	0.12192	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	0	0	1	0	0.04762	5397.11	41	chr8	142913390	.	A	T	5397.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.419;DP=1441;ExcessHet=0.1072;FS=1.107;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.64;MQRankSum=-1.860e-01;QD=12.97;ReadPosRankSum=-3.700e-02;SOR=0.573	GT:AD:DP:GQ:PL	0/1:98,117:215:99:2843,0,2532	19	0	2	0
chr8	142917752	142917752	C	T	exonic	CYP11B2	.	nonsynonymous SNV	CYP11B2:NM_000498:exon1:c.G89A:p.R30Q,	Aldosterone to renin ratio raised (3);Hypoaldosteronism, congenital, due to CMO I deficiency, Autosomal recessive;Hypoaldosteronism, congenital, due to CMO II deficiency, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	313479	Corticosterone_methyl_oxidase_type_II_deficiency|Glucocorticoid-remediable_aldosteronism|not_provided|Corticosterone_18-monooxygenase_deficiency|Corticosterone_methyloxidase_type_2_deficiency	.|MONDO:MONDO:0007080,MedGen:C3838731,OMIM:103900,Orphanet:403|MedGen:C3661900|MONDO:MONDO:0008751,MedGen:C0268293,OMIM:203400,Orphanet:427|MONDO:MONDO:0012524,MedGen:C3463917,OMIM:610600,Orphanet:427	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.001	B	0.081	U	1.000	N	-0.69	N	-0.82	T	-1.000	T	0.086	T	0.045	-0.044	3.787	-1.82	-0.095	-0.674	0.354	0.113	.	0.0032	0.00199681	0.0011	0.0109	0.0007	0	0	0.0002	0.0011	6.056e-05	0.0009961	154	154602	rs6441	0.0005	0.0005	0.0005	0.0004	0.0127	0.0005	0.0004	0.0117	0.0113	0.0127	0.0010	0	5.038e-05	0	0.0017	0.0001	0.0013	9.275e-05	0.0037	0.0037	0.0037	0.0038	0.0127	0.0035	0.0034	0.0118	0.0114	0.0127	0	0.0014	0	0.0002	0	0.0068	0.0001	0.0043	0	0.593	0.05755	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	0.080754	0.02351	U	2.457000	1	0.08975	N	-0.69	0.01958	N	-0.82	0.74053	T	-0.17	0.09627	N	0.031	0.00770	-0.9998	0.29973	T	0.086	0.33522	T	10	0.006872624	0.00156	T	.	.	.	0.113	0.31778	.	.	0.441949972293	0.43817	0.3279911864277752	0.32712	0.261723685699	0.28725	0.411951065063	0.26727	T	0.088526	0.38178	T	-0.611105	0.00125	T	-0.640198	0.09655	T	0.00150298370214804	0.00015	T	0.349965	0.07784	T	0.030228583	0.02650	0.03148591	0.01744	0.030228583	0.02649	0.03148591	0.01744	-3.734	0.19821	T	.	.	0.074	0.05274	B	.	.	-0.691650	0.01340	0.074	0.68884413144555334	0.08797	0.00390	0.01961	N	AEFDBI	0.016559	0.00380	N	-1.6700705384338	0.00953	0.04129815	-1.66122479467032	0.01319	0.05951107	1.27112602497627E-4	0.05386	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.48	-1.82	0.07433	-0.288000	0.08412	0.588000	0.19789	-2.618000	0.00231	0.000000	0.06391	0.045000	0.21693	0.000000	0.00833	0.1936:0.2079:0.205:0.3935	0.354	0.00329	986	0.02773	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	2888.98	37	chr8	142917752	.	C	T	2888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.261;DP=956;ExcessHet=0.0000;FS=1.068;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=1.31;SOR=0.672	GT:AD:DP:GQ:PL	0/1:97,112:209:99:2903,0,2494	20	0	1	0
chr8	143429787	143429789	TGG	-	exonic	MAFA	.	nonframeshift deletion	MAFA:NM_201589:exon1:c.618_620del:p.H208del,	.	.	264	254	1	13	990	1017	0.0504673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	51136.5	54	chr8	143429783	.	ATGGTGG	ATGG,A	51136.5	.	AC=38,4;AF=0.905,0.095;AN=42;BaseQRankSum=1.21;DP=1755;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=38,4;MLEAF=0.905,0.095;MQ=60.00;MQRankSum=0.00;QD=34.47;ReadPosRankSum=0.693;SOR=0.738	GT:AD:DP:GQ:PL	1/1:2,46,0:48:56:1924,56,0,1930,139,2013	0	17	0	0
chr8	143921006	143921006	G	A	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon32:c.C8773T:p.R2925W	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	.	.	.	.	.	.	.	.	.	.	369391	not_provided|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.938	D	0.006	U	0.996	D	2.16	M	-1.32	T	0.403	D	0.642	D	0.5	2.069	12.87	4.82	2.404	3.986	17.030	0.601	0.203270904625	.	.	2.506e-05	0	0	0.0001	0	1.517e-05	0.0011	0	1.94e-05	3	154602	rs782575301	2.259e-05	2.326e-05	2.725e-05	1.789e-05	0.0002	1.611e-05	1.417e-05	8.198e-05	5.784e-05	2.987e-05	2.236e-05	0	0.0002	1.909e-05	0.0002	1.349e-05	9.937e-05	1.159e-05	3.285e-05	3.283e-05	3.853e-05	2.689e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.824e-05	0	6.542e-05	0	0.0002	0	0.0032	0	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.938	0.67350	D	0.006390	0.32067	U	0.183542	0.996157	0.43046	D	2.705	0.79137	M	-1.32	0.80035	T	-4.79	0.80682	D	0.731	0.75101	0.403	0.89145	D	0.642	0.87501	D	10	0.67540264	0.70961	D	0.203271	0.86866	D	0.601	0.84237	0.554	0.67133	0.767104620005	0.76497	0.6460771018736787	0.64542	.	.	0.598877727985	0.52745	T	0.452617	0.79288	T	-0.100278	0.36380	T	-0.0896701	0.64186	T	0.585886538831796	0.35845	D	0.940673	0.77758	D	0.12151604	0.28574	0.10162406	0.24335	0.12151604	0.28573	0.10162406	0.24334	-8.619	0.65215	D	0.4064903700181163	0.49749	0.183	0.41618	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	4.325511	0.66232	24.9	0.98497564426367268	0.42180	0.87720	0.47355	D	AEFDGBCI	0.787995	0.71761	D	0.634622542598961	0.75375	6.295114	0.597487545470333	0.74757	6.192006	0.999999999603871	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	3.979000	0.56596	.	.	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	17.030	0.86332	970	0.06235	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	9450.98	210	chr8	143921006	.	G	A	9450.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.578;DP=3702;ExcessHet=0.0000;FS=2.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.02;ReadPosRankSum=2.26;SOR=0.534	GT:AD:DP:GQ:PL	0/1:308,366:674:99:9465,0,7474	20	0	1	0
chr9	117371	117371	C	0	exonic	FOXD4	.	.	.	.	.	494	340	430	130	128	818	0.50365	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	10566.34	45	chr9	117371	.	C	G,*	10566.34	.	AC=21,5;AF=0.500,0.119;AN=42;BaseQRankSum=1.69;DP=683;ExcessHet=1.5101;FS=0.547;InbreedingCoeff=-0.0096;MLEAC=21,5;MLEAF=0.500,0.119;MQ=45.38;MQRankSum=-4.449e+00;QD=18.70;ReadPosRankSum=-5.950e-01;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,22,0:22:66:.:.:818,66,0,818,66,818	3	5	9	0
chr9	6588665	6588665	T	G	exonic	GLDC	.	nonsynonymous SNV	GLDC:NM_000170:exon13:c.A1618C:p.K540Q,	Glycine encephalopathy, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	459262	Non-ketotic_hyperglycinemia|GLDC-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0008288,MONDO:MONDO:0011612,MedGen:C0751748,OMIM:PS605899,Orphanet:407|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.31	T	0.001	B	0.002	B	0.001	D	0.992	D	0.665	N	-4.66	D	0.278	D	0.672	D	0.316	2.370	13.88	5.8	2.216	1.933	12.053	0.297	0.0558489270578	0.0015	0.00179712	0.0005	0.0053	0.0002	0	0	0	0	6.076e-05	0.0004657	72	154602	rs140516872	0.0001	0.0001	0.0002	9.216e-05	0.0040	0.0001	0.0001	0.0034	0.0032	0.0040	0.0003	0	0	0	0.0005	3.599e-06	0.0004	1.159e-05	0.0012	0.0012	0.0012	0.0012	0.0043	0.0011	0.0010	0.0038	0.0036	0.0043	0	0.0003	0	0	0	0	0	0	0	0.377	0.11298	T	0.181	0.29346	T	0.001	0.07471	B	0.002	0.06944	B	0.000550	0.43413	D	0.236623	0.992	0.41428	D	0.805	0.20218	L	-4.66	0.97956	D	-0.17	0.09627	N	0.488	0.52208	0.278	0.87201	D	0.672	0.88643	D	10	0.0134238005	0.00285	T	0.055849	0.66389	D	0.297	0.61730	.	.	0.97461534946	0.97433	0.7058608944292393	0.70528	0.0554290261123	0.06130	0.721733808517	0.70298	T	0.269445	0.64164	T	-0.220532	0.17920	T	-0.0892895	0.64216	T	0.00986812288271098	0.00131	T	0.972203	0.89922	D	0.31899008	0.54555	0.24686684	0.50205	0.29389724	0.52352	0.2104797	0.45435	-10.529	0.77014	D	0.08259779950520983	0.04378	0.086	0.10594	B	.	.	2.575459	0.33383	19.32	0.96945376842275588	0.31715	0.87553	0.47130	D	AEFDBI	0.399650	0.47485	N	-0.182843466962239	0.33848	1.92513	0.0391680860618663	0.41552	2.498231	0.999999304035912	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.586402	0.36253	0	.	.	5.8	5.8	0.92081	1.941000	0.39861	6.220000	0.55115	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.1437:0.8563	12.053	0.52817	798	0.45050	.	.	.	.	.	.	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	0.02381	1820.98	37	chr9	6588665	.	T	G	1820.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.85;DP=833;ExcessHet=0.0000;FS=1.284;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=0.912;SOR=0.577	GT:AD:DP:GQ:PL	0/1:77,72:149:99:1835,0,1886	20	0	1	0
chr9	18681818	18681818	G	C	exonic	ADAMTSL1	.	nonsynonymous SNV	ADAMTSL1:NM_001040272:exon12:c.G1348C:p.V450L	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.999	D	0.988	D	.	.	1.000	D	2.605	M	-0.1	T	-0.141	T	0.486	T	0.771	5.333	34	5.71	2.861	9.710	20.224	0.387	0.0361281954163	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	3.425e-06	3.42e-06	5.453e-06	1.377e-06	0.0002	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0.0002	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.007	0.69154	D	0.999	0.77913	D	0.988	0.77976	D	.	.	.	.	0.999999	0.58761	D	2.865	0.83145	M	-0.1	0.64264	T	-2.44	0.53420	N	0.566	0.64478	-0.1409	0.79142	T	0.486	0.80441	T	9	0.5345307	0.63372	D	0.036128	0.56792	D	0.387	0.70358	0.512	0.61000	0.75988825194	0.75770	0.30900537794700483	0.30813	0.379897150079	0.39369	0.769696354866	0.77379	T	0.156225	0.49831	T	0.196734	0.73588	D	0.0448178	0.73243	D	0.922273879868052	0.58234	D	0.945705	0.86792	D	0.2958976	0.52535	0.31715703	0.57692	0.2958976	0.52535	0.31715703	0.57691	-9.777	0.72565	D	.	.	0.499	0.71754	A	.;.;.	.;.;.	5.016418	0.83334	28.0	0.99846605756839324	0.92663	0.99404	0.95594	D	AEFBI	0.928744	0.91342	D	0.951752899235159	0.94055	12.469	0.930976503773201	0.96786	15.14414	0.999999999999989	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.618467	0.43123	0	0.613276	0.41899	0	.	.	5.71	5.71	0.89031	9.902000	0.98627	11.797000	0.96542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	20.224	0.98338	791	0.46100	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1056.98	40	chr9	18681818	.	G	C	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.502e+00;DP=850;ExcessHet=0.0000;FS=9.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=-1.830e-01;SOR=0.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,45:99:99:0|1:18681818_G_C:1071,0,1575:18681818	20	0	1	0
chr9	19126126	19126126	G	C	exonic	PLIN2	.	nonsynonymous SNV	PLIN2:NM_001122:exon3:c.C214G:p.L72V,	.	.	432	1037	46	7	0	60	0.0281162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.001	N	0.999	D	3.12	M	2.47	T	-0.797	T	0.107	T	0.869	3.862	19.62	3.37	1.330	5.580	13.145	0.396	.	0.0048	0.00778754	0.0078	0.0007	0.0029	0	0.0003	0.0063	0.0100	0.0292	0.0069986	1082	154602	rs149124591	0.0049	0.0049	0.0040	0.0058	0.0279	0.0048	0.0048	0.0270	0.0266	0.0003	0.0032	0.0328	5.04e-05	0.0004	0.0206	0.0028	0.0072	0.0279	0.0039	0.0039	0.0037	0.0041	0.0269	0.0036	0.0035	0.0232	0.0218	0.0006	0	0.0041	0.0268	0	0.0003	0.0102	0.0039	0.0043	0.0269	0.003	0.78490	D	0.004	0.92824	D	0.974	0.57829	D	0.974	0.73157	D	0.001185	0.39899	N	0.221461	0.998758	0.45389	D	3.42	0.91902	M	2.47	0.14783	T	-2.37	0.61580	N	0.817	0.81261	-0.7969	0.55327	T	0.107	0.39051	T	10	0.010061443	0.00225	T	.	.	.	0.396	0.71084	.	.	0.659526208185	0.65667	0.7646046571490274	0.76409	0.252766109563	0.27842	0.538249135017	0.44198	T	0.349394	0.71725	T	-0.151012	0.28154	T	0.0305767	0.72315	D	0.0698357970993575	0.08628	T	0.978169	0.92312	D	0.2263921	0.45320	0.27991867	0.53964	0.2263921	0.45320	0.27991867	0.53963	-9.252	0.69305	D	.	.	0.193	0.46631	B	.;.;.;.	.;.;.;.	6.398484	0.95145	34	0.99827297879109511	0.90939	0.97207	0.73322	D	ALL	0.681205	0.64464	D	0.714991296709042	0.80615	7.333665	0.628639343559016	0.77029	6.601281	0.999999717361203	0.74766	0.645754	0.44609	0	0.672317	0.65289	0	0.696144	0.63334	0	0.638787	0.57140	0	.	.	5.54	3.37	0.37692	5.688000	0.67889	4.196000	0.42436	-0.198000	0.09030	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.152:0.0:0.848:0.0	13.145	0.58873	681	0.59854	.;.;.;.	.	.	.	.	.	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	0.02381	1378.98	35	chr9	19126126	.	G	C	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.652e+00;DP=835;ExcessHet=0.0000;FS=1.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=0.296;SOR=0.532	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1393,0,1171	20	0	1	0
chr9	21010730	21010730	T	C	exonic	HACD4	.	nonsynonymous SNV	HACD4:NM_001321903:exon7:c.A638G:p.H213R,	.	.	971	549	2	0	0	2	0.00181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs775635484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0003	0.0001	0.0004	0.0002	0.0001	0.0003	0.0003	4.813e-05	0	0	0	0	9.427e-05	0	0.0004	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.025	369.34	26	chr9	21010730	.	T	C	369.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.903;DP=454;ExcessHet=0.0000;FS=1.760;InbreedingCoeff=-0.0257;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=16.06;ReadPosRankSum=-2.141e+00;SOR=0.790	GT:AD:DP:GQ:PL	0/1:7,16:23:99:383,0,120	19	0	1	1
chr9	34500798	34500798	A	C	exonic	DNAI1	.	nonsynonymous SNV	DNAI1:NM_001281428:exon11:c.A990C:p.Q330H	Ciliary dyskinesia, primary, 1, with or without situs inversus, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	240610	Kartagener_syndrome|Primary_ciliary_dyskinesia|not_specified|not_provided	MONDO:MONDO:0009484,MedGen:C4551906,OMIM:244400,Orphanet:244,Orphanet:98861|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.64	T	0.005	B	0.01	B	0.000	D	1.000	D	1.565	L	-1.08	T	-0.966	T	0.113	T	0.412	1.163	9.734	1.37	0.338	1.602	6.794	0.296	.	0.0116	0.0101837	0.0031	0.0331	0.0015	0	0	4.515e-05	0.0056	6.122e-05	0.0029754	460	154602	rs16931555	0.0010	0.0010	0.0011	0.0009	0.0342	0.0009	0.0009	0.0326	0.0319	0.0342	0.0019	0	0	0	0.0035	3.507e-05	0.0025	9.275e-05	0.0097	0.0097	0.0099	0.0095	0.0328	0.0093	0.0091	0.0313	0.0308	0.0328	0	0.0061	0	0	0	0.0068	7.35e-05	0.0071	0	0.559	0.06401	T	0.576	0.08624	T	0.005	0.12996	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.985071	0.40232	D	2.06	0.56677	M	-1.08	0.77078	T	-1.93	0.44852	N	0.535	0.56748	-0.9664	0.37934	T	0.113	0.40307	T	10	0.00628832	0.00142	T	.	.	.	0.296	0.61616	0.124	0.03018	0.82742518124	0.82579	0.6519240489992135	0.65128	0.108361906131	0.12219	0.625535845757	0.56512	T	0.031436	0.53388	T	-0.346298	0.04963	T	-0.244447	0.50362	T	0.00384680393901335	0.00041	T	0.89931	0.64723	D	0.16033365	0.35968	0.11618998	0.28049	0.18749651	0.40206	0.14885767	0.35170	-7.939	0.60653	D	0.12992243754010682	0.13618	0.211	0.43935	B	.;.	.;.	2.197039	0.28021	17.66	0.86045798238912619	0.16278	0.31774	0.24422	N	ALL	0.315613	0.42013	N	-0.445455935132924	0.23894	1.286391	-0.320149962067001	0.27448	1.523159	0.999999948734795	0.74766	0.648878	0.45929	0	0.596394	0.48810	0	0.440796	0.06475	0	0.636	0.56748	0	.	.	4.99	1.37	0.21200	1.900000	0.39460	1.945000	0.29852	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.6164:0.0:0.3836:0.0	6.794	0.22901	293	0.88320	.;.	.	.	.	.	.	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	0.02381	3625.98	42	chr9	34500798	.	A	C	3625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=1101;ExcessHet=0.0000;FS=0.460;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-1.513e+00;SOR=0.754	GT:AD:DP:GQ:PL	0/1:118,134:252:99:3640,0,2870	20	0	1	0
chr9	36169542	36169542	G	C	exonic	CCIN	.	nonsynonymous SNV	CCIN:NM_005893:exon1:c.G40C:p.V14L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.931	P	0.911	D	0.022	N	0.993	N	-0.34	N	-0.24	T	-0.903	T	0.148	T	0.333	0.675	7.612	4.8	1.429	0.783	10.878	0.204	.	0.0040	0.00379393	0.0010	0.0109	0.0003	0	0	0	0	0	0.0009056	140	154602	rs140225623	0.0003	0.0003	0.0003	0.0002	0.0097	0.0003	0.0002	0.0088	0.0085	0.0097	0.0004	0	0	0	0.0003	7.194e-06	0.0009	1.159e-05	0.0029	0.0029	0.0028	0.0029	0.0100	0.0026	0.0026	0.0092	0.0089	0.0100	0	0.0007	0	0	0	0.0034	4.41e-05	0.0024	0	0.131	0.26629	T	0.369	0.16522	T	0.931	0.51899	P	0.911	0.64720	D	0.022279	0.26667	N	0.260679	0.992924	0.23802	N	-0.08	0.04796	N	-0.24	0.66834	T	-0.07	0.08033	N	0.279	0.31590	-0.9028	0.47694	T	0.148	0.47398	T	10	0.00868246	0.00197	T	.	.	.	0.204	0.49076	0.493	0.58048	0.671947942484	0.66917	0.40876474839920673	0.40792	0.267502293353	0.29292	0.650991559029	0.60126	T	0.004311	0.03719	T	-0.431556	0.01450	T	-0.384715	0.35171	T	0.0391484797318546	0.03538	T	0.542646	0.18460	T	0.053001408	0.09966	0.07785974	0.17384	0.053001408	0.09965	0.07785974	0.17384	-2.119	0.03666	T	.	.	0.236	0.46960	B	.	.	0.508568	0.08773	5.551	0.89578623804782354	0.18918	0.48674	0.28260	N	AEFDBCI	0.132480	0.25179	N	-0.106638922286488	0.37103	2.15387	-0.0158896371365289	0.38997	2.305639	0.999999983333883	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.602189	0.34648	0	0.645948	0.59608	0	.	.	5.69	4.8	0.61157	0.909000	0.28180	0.406000	0.18056	-2.356000	0.00307	0.865000	0.30702	0.013000	0.20296	0.791000	0.37352	0.0866:0.0:0.9134:0.0	10.878	0.46131	430	0.80826	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1339.98	34	chr9	36169542	.	G	C	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=964;ExcessHet=0.0000;FS=0.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.96;ReadPosRankSum=1.47;SOR=0.510	GT:AD:DP:GQ:PL	0/1:32,47:79:99:1354,0,759	20	0	1	0
chr9	36170302	36170302	G	A	exonic	CCIN	.	nonsynonymous SNV	CCIN:NM_005893:exon1:c.G800A:p.S267N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.281	B	0.075	B	0.000	D	0.561	N	0.805	L	-0.27	T	-0.677	T	0.142	T	0.079	1.487	10.92	5.97	2.839	2.955	15.924	0.134	.	0.0040	0.00379393	0.0010	0.0109	0.0003	0	0	0	0	0	0.0009056	140	154602	rs149800575	0.0003	0.0003	0.0003	0.0002	0.0097	0.0003	0.0002	0.0088	0.0085	0.0097	0.0004	0	0	0	0.0003	7.194e-06	0.0009	1.159e-05	0.0029	0.0029	0.0028	0.0029	0.0100	0.0026	0.0026	0.0092	0.0089	0.0100	0	0.0007	0	0	0	0.0034	4.41e-05	0.0024	0	0.009	0.57480	D	0.062	0.45318	T	0.281	0.32101	B	0.075	0.28327	B	0.000088	0.51296	D	0.084363	0.561291	0.31254	N	0.975	0.24501	L	-0.27	0.67367	T	-0.27	0.11366	N	0.239	0.26957	-0.6771	0.61506	T	0.142	0.46349	T	10	0.005872369	0.00131	T	.	.	.	0.134	0.36365	.	.	0.824004834288	0.82233	0.687361272320196	0.68676	0.624608782655	0.56662	0.426729440689	0.28762	T	0.009098	0.08305	T	-0.503754	0.00545	T	-0.488422	0.23556	T	0.0201781184281316	0.00718	T	0.643236	0.25495	T	0.16197604	0.36243	0.19084641	0.42511	0.16197604	0.36243	0.19084641	0.42510	-3.802	0.20834	T	.	.	0.123	0.25721	B	.	.	2.450581	0.31553	18.78	0.98434152206036674	0.41431	0.83647	0.42750	D	AEFDBI	0.414687	0.48385	N	0.118375504636549	0.47320	2.959393	0.306929998991567	0.55947	3.757498	0.999999999692375	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.97	5.97	0.96935	2.406000	0.44210	8.540000	0.77489	0.676000	0.76740	0.679000	0.28429	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	15.924	0.79390	424	0.81215	.	.	.	.	.	.	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	0.02381	2235.98	34	chr9	36170302	.	G	A	2235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.550e+00;DP=1069;ExcessHet=0.0000;FS=2.630;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.423e+00;SOR=0.549	GT:AD:DP:GQ:PL	0/1:93,83:176:99:2250,0,2626	20	0	1	0
chr9	42077045	42077045	G	A	exonic	CNTNAP3B	.	nonsynonymous SNV	CNTNAP3B:NM_001201380:exon3:c.C214T:p.P72S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs570368450	0.0008	0.0008	0.0009	0.0008	0.0009	0.0008	0.0008	0.0008	0.0008	0.0003	0.0002	0	0	0.0026	0	0.0009	0.0009	7.377e-05	0.0008	0.0008	0.0008	0.0008	0.0012	0.0007	0.0007	0.0010	0.0009	6.006e-05	0	0.0001	0	0	0.0033	0	0.0012	0	0.0002	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.56	0.97772	D	-7.48	0.94988	D	0.788	0.80572	.	.	.	.	.	.	.	0.8095614	0.80255	D	.	.	.	.	.	.	.	0.7131072147	0.71059	0.5462835517139388	0.54554	.	.	.	.	.	0.505327	0.82401	D	0.62653	0.99864	D	0.66219	0.99863	D	.	.	.	0.977402	0.96822	D	0.14572369	0.33391	0.28765395	0.54778	0.14572369	0.33390	0.28765395	0.54778	-9.306	0.69645	D	.	.	0.883	0.81672	P	.;.;.;.;.	.;.;.;.;.	4.276754	0.65116	24.8	0.73623944533312846	0.10395	0.89896	0.50665	D	AEFI	.	.	.	.	.	.	.	.	.	0.0694397534429974	0.15490	0.262962	0.04601	0	0.084543	0.02171	0	0.183335	0.04453	0	0.330827	0.05736	0	0.689193	0.42594	2.04	2.04	0.25787	8.495000	0.90317	8.133000	0.76660	0.551000	0.28136	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	9.665	0.39145	994	0.00715	Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain;Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain|Coagulation factor 5/8 C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02632	429.71	33	chr9	42077045	.	G	A	429.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.95;DP=589;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=36.06;MQRankSum=-4.740e-01;QD=13.86;ReadPosRankSum=0.060;SOR=0.559	GT:AD:DP:GQ:PL	0/1:14,17:31:99:443,0,353	18	0	1	2
chr9	69221397	69221397	C	T	exonic	TJP2	.	nonsynonymous SNV	TJP2:NM_001170415:exon5:c.C865T:p.R289C	Cholestasis, progressive familial intrahepatic 4, Autosomal recessive;Hypercholanemia, familial	.	1	1516	5	0	0	5	0.00164636	.	.	1299368	TJP2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.996	D	0.648	P	0.034	N	1.000	D	1.67	L	0.71	T	-0.871	T	0.171	T	0.36	2.700	14.99	4.46	1.217	0.889	13.726	0.111	0.0492869631799	.	0.000199681	0.0010	0	0.0008	0	0	0	0	0.0036	0.0002781	43	154602	rs546327568	0.0002	0.0002	7.906e-05	0.0003	0.0032	0.0002	0.0002	0.0029	0.0028	0	0	0	0	0	0.0003	1.825e-05	3.387e-05	0.0032	0.0002	0.0002	3.854e-05	0.0003	0.0050	0.0001	9.232e-05	0.0034	0.0029	0	0	0	0	0	0	0	0	0	0.0050	0.006	0.63226	D	0.015	0.63918	D	0.978	0.67487	D	0.328	0.44752	B	0.033622	0.24874	N	0.419924	0.996651	0.47544	D	2.33	0.66821	M	0.71	0.51228	T	-2.06	0.49352	N	0.429	0.47022	-0.8709	0.50462	T	0.171	0.51309	T	9	0.009921193	0.00222	T	0.049287	0.63745	D	0.111	0.31313	0.428	0.47515	0.516827169674	0.51324	0.5180665781593101	0.51729	0.707521477016	0.61494	0.373469024897	0.21328	T	0.53838	0.84149	D	-0.38429	0.02927	T	-0.327518	0.41745	T	0.180432469399519	0.19262	T	0.933707	0.75281	D	0.18292132	0.39534	0.09652833	0.22940	0.18292132	0.39534	0.09652833	0.22939	-9.781	0.72589	D	0.1818717878021076	0.23472	0.219	0.46179	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.758721	0.53924	23.4	0.99855583235637158	0.93458	0.41868	0.26752	N	AEFBI	0.332887	0.43215	N	-0.0174183595923497	0.41068	2.449875	-0.0861671124257176	0.35961	2.086864	0.97245913830237	0.29372	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.38	4.46	0.53567	3.591000	0.53733	2.571000	0.33365	0.587000	0.30956	0.945000	0.32849	0.997000	0.33255	0.064000	0.16252	0.28:0.72:0.0:0.0	13.726	0.62243	988	0.01987	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1024.98	36	chr9	69221397	.	C	T	1024.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.630e-01;DP=791;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=-8.170e-01;SOR=0.794	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1039,0,907	20	0	1	0
chr9	75069070	75069070	C	T	exonic	NMRK1	.	nonsynonymous SNV	NMRK1:NM_001127603:exon6:c.G350A:p.G117E	.	.	431	1069	22	0	0	22	0.0101852	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	1.0	D	0.000	D	1.000	D	2.405	M	1.13	T	-0.734	T	0.229	T	0.938	4.416	23.4	6.17	2.941	5.458	20.490	0.456	0.030077816773	0.0061	0.00159744	0.0042	0.0012	0.0016	0	0.0015	0.0061	0.0055	0.0032	0.004269	660	154602	rs138360599	0.0061	0.0061	0.0061	0.0061	0.0097	0.0060	0.0059	0.0077	0.0069	0.0010	0.0023	0.0040	0	0.0022	0.0097	0.0070	0.0069	0.0040	0.0045	0.0045	0.0049	0.0041	0.0075	0.0042	0.0041	0.0069	0.0067	0.0012	0.0022	0.0029	0.0052	0	0.0021	0.0102	0.0075	0.0076	0.0037	0.001	0.78490	D	0.06	0.76473	T	1.0	0.90584	D	1.0	0.97372	D	0.000005	0.62929	D	0.107803	1	0.81001	D	2.54	0.74080	M	1.13	0.38556	T	-7.31	0.94511	D	0.732	0.73285	-0.7335	0.58786	T	0.229	0.59459	T	10	0.01495254	0.00314	T	0.030078	0.52463	D	0.456	0.75483	.	.	0.414930877219	0.41105	0.8017082720373113	0.80124	0.259490706141	0.28504	0.680653333664	0.64362	T	0.161511	0.50580	T	-0.0665978	0.41870	T	0.135286	0.79237	D	0.0393469087500047	0.03572	T	0.989734	0.99133	D	0.85081905	0.87396	0.9221031	0.96546	0.85081905	0.87398	0.9221031	0.96546	-10.627	0.77573	D	.	.	0.371	0.60836	A	.;.;.	.;.;.	4.310916	0.65896	24.9	0.99742598808316485	0.83629	0.97525	0.75317	D	AEFBI	0.768756	0.70422	D	0.762460908308169	0.83715	8.090229	0.735719478295199	0.85086	8.47697	0.999999999994957	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	4.569000	0.60579	5.929000	0.51288	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.337000	0.25363	0.0:1.0:0.0:0.0	20.490	0.99205	727	0.54702	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	455.98	33	chr9	75069070	.	C	T	455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.253e+00;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.70;ReadPosRankSum=1.23;SOR=0.693	GT:AD:DP:GQ:PL	0/1:54,26:80:99:470,0,1493	20	0	1	0
chr9	76705907	76705907	C	T	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon8:c.G6367A:p.A2123T	.	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.024	B	0.007	B	0.208	N	1.000	N	1.355	L	0.93	T	-1.054	T	0.036	T	0.25	0.941	8.837	1.78	0.423	0.052	6.613	0.030	.	0.0048	0.00858626	0.0019	0.0221	0.0013	0	0	3.019e-05	0	0	0.0018564	287	154602	rs114944586	0.0006	0.0006	0.0007	0.0005	0.0208	0.0006	0.0006	0.0195	0.0190	0.0208	0.0012	0	2.519e-05	0	0.0010	9.893e-06	0.0019	4.637e-05	0.0057	0.0057	0.0059	0.0055	0.0200	0.0054	0.0053	0.0189	0.0185	0.0200	0	0.0019	0	0	0	0	4.41e-05	0.0019	0.0004	0.271	0.15984	T	0.567	0.09113	T	0.024	0.19075	B	0.007	0.12992	B	0.207718	0.16442	N	0.561447	1	0.08975	N	1.995	0.54099	M	0.93	0.44065	T	-0.47	0.15178	N	0.062	0.03392	-1.0540	0.13305	T	0.036	0.15726	T	10	0.0032637417	0.00056	T	.	.	.	0.034	0.08419	.	.	0.322786055943	0.31880	0.07615494980692046	0.07551	0.0848295226273	0.09583	0.248238489032	0.03585	T	0.00523	0.10302	T	-0.543783	0.00318	T	-0.537626	0.18529	T	0.00311698036392431	0.00033	T	0.666633	0.27564	T	0.049013443	0.08637	0.054059256	0.09226	0.049013443	0.08636	0.054059256	0.09225	-3.546	0.17082	T	.	.	0.082	0.08609	B	.;.;.	.;.;.	0.549369	0.09179	5.962	0.56792964640960275	0.05629	0.05234	0.11065	N	AEFBI	0.053924	0.09760	N	-0.506155850104055	0.21880	1.16444	-0.621953268005065	0.18930	1.013428	0.992491889798911	0.32860	0.693126	0.56070	0	0.586423	0.34054	0	0.659464	0.59346	0	0.542086	0.14980	0	.	.	5.73	1.78	0.23918	0.077000	0.14593	0.615000	0.20071	0.587000	0.30956	0.000000	0.06391	0.002000	0.18203	0.043000	0.14563	0.0:0.593:0.1282:0.2787	6.613	0.21956	918	0.19598	.;.;.	.	.	.	.	.	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	0.02381	1865.98	104	chr9	76705907	.	C	T	1865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.570e-01;DP=2347;ExcessHet=0.0000;FS=1.391;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=0.631;SOR=0.709	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1880,0,1786	20	0	1	0
chr9	76713697	76713697	T	A	exonic	PRUNE2	.	nonsynonymous SNV	PRUNE2:NM_001308047:exon7:c.A781T:p.T261S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.211	B	0.09	B	.	.	0.995	D	0.41	N	0.92	T	-1.040	T	0.046	T	0.124	2.688	14.95	-2.16	-0.042	-0.245	3.019	0.017	0.00724923774128	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1334602497	4.15e-06	5.472e-06	5.491e-06	2.788e-06	0.0002	1.49e-06	9.8e-07	5.874e-05	3.775e-05	0.0002	0	0	0	0	0	0	1.67e-05	0	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	0.171	0.22746	T	0.145	0.33442	T	0.211	0.29987	B	0.09	0.29851	B	.	.	.	.	0.995456	0.42699	D	0.6	0.15550	N	0.92	0.44461	T	-0.73	0.35991	N	0.227	0.25499	-1.0400	0.17313	T	0.046	0.19559	T	9	0.09813285	0.17721	T	0.007249	0.19225	T	0.017	0.02790	0.397	0.42426	0.19670166235	0.19296	0.07105983230790998	0.07042	0.0867180676216	0.09781	0.321142673492	0.13595	T	0.004662	0.09515	T	-0.267225	0.12067	T	-0.621626	0.11059	T	0.0377117854718781	0.03281	T	0.483152	0.14651	T	0.0549868	0.10625	0.04773995	0.06941	0.0549868	0.10624	0.04773995	0.06940	-2.798	0.08165	T	.	.	0.102	0.18037	B	.;.	.;.	1.280988	0.16809	12.78	0.94483346185762451	0.24941	0.37569	0.25791	N	AEFDBI	0.119273	0.23286	N	-0.618291669190431	0.18395	0.9546757	-0.517932467590182	0.21667	1.173151	0.99314418666909	0.33102	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.75052	0.99595	0	.	.	6.07	-2.16	0.06684	-0.247000	0.08884	-0.009000	0.13087	0.665000	0.62972	0.643000	0.28111	0.911000	0.28135	0.996000	0.76049	0.1037:0.2605:0.1069:0.5289	3.019	0.05701	953	0.10115	DHHA2 domain|DHHA2 domain;DHHA2 domain|DHHA2 domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1266.98	34	chr9	76713697	.	T	A	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.12;DP=802;ExcessHet=0.0000;FS=5.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=-5.600e-02;SOR=1.322	GT:AD:DP:GQ:PL	0/1:38,49:87:99:1281,0,835	20	0	1	0
chr9	77382074	77382074	A	G	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon67:c.A9059G:p.N3020S	Choreoacanthocytosis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1199984	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.236	B	0.165	B	0.000	D	1.000	D	0.225	N	1.04	T	-1.046	T	0.069	T	0.085	0.909	8.697	5.32	2.010	6.034	6.788	0.071	0.012264174377	.	.	2.499e-05	0	0	0	0	4.553e-05	0	0	1.94e-05	3	154602	rs768641511	2.819e-05	2.805e-05	1.915e-05	3.732e-05	0.0002	2.097e-05	1.888e-05	2.549e-05	2.232e-05	0	2.262e-05	0	0	0	0.0002	3.429e-05	1.665e-05	0	2.629e-05	2.626e-05	1.285e-05	4.036e-05	6.545e-05	8.14e-06	5.14e-06	4.88e-06	1.83e-06	0	0	6.545e-05	0	0	0	0	2.94e-05	0.0005	0	0.875	0.03028	T	0.784	0.04274	T	0.236	0.30770	B	0.165	0.35019	B	0.000000	0.84330	D	0.044008	0.964861	0.40173	D	-0.2	0.04182	N	1.04	0.47130	T	-0.86	0.26422	N	0.397	0.43803	-1.0459	0.15563	T	0.069	0.28113	T	9	0.0897654	0.15577	T	0.012264	0.30673	T	0.071	0.20720	0.31	0.28289	0.419713421852	0.41588	0.36006005603213587	0.35920	0.10701981238	0.12085	0.638090133667	0.58293	T	0.199676	0.55703	T	-0.316802	0.07162	T	-0.585184	0.14086	T	0.248257771134377	0.22795	T	0.921208	0.71764	D	0.07052652	0.15541	0.082115285	0.18716	0.07052652	0.15541	0.082115285	0.18716	-2.204	0.07697	T	.	.	0.081	0.08417	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.256634	0.28829	17.93	0.95089166719444995	0.26151	0.73394	0.35902	D	AEFBI	0.425314	0.49013	N	-0.0453224390903342	0.39811	2.35388	0.156774711515482	0.47500	2.979455	0.0875968446558537	0.16039	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.32	5.32	0.75377	6.276000	0.72624	11.187000	0.88524	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8323:0.0:0.1677:0.0	6.788	0.22866	621	0.65931	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1746.98	33	chr9	77382074	.	A	G	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e+00;DP=874;ExcessHet=0.0000;FS=0.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.04;ReadPosRankSum=1.25;SOR=0.612	GT:AD:DP:GQ:PL	0/1:89,85:174:99:1761,0,1968	20	0	1	0
chr9	78248353	78248353	G	C	exonic	CEP78	.	nonsynonymous SNV	CEP78:NM_001098802:exon7:c.G955C:p.E319Q	Cone-rod dystrophy and hearing loss, Autosomal recessive	.	437	1083	2	0	0	2	0.000922509	0.9579	0.796	497121	Cone-rod_dystrophy_and_hearing_loss_1|not_specified|not_provided	MONDO:MONDO:0020778,MedGen:C5193018,OMIM:617236|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	1.0	D	0.975	D	0.000	D	0.996	D	1.7	L	0.62	T	-0.916	T	0.086	T	0.622	4.354	22.9	6.03	2.861	7.295	19.135	0.129	.	0.0087	0.00798722	0.0025	0.0284	0.0014	0	0	0.0001	0	0	0.0022768	352	154602	rs61730338	0.0009	0.0009	0.0011	0.0008	0.0295	0.0009	0.0009	0.0280	0.0274	0.0295	0.0023	0	0	0	0.0035	7.457e-05	0.0026	8.238e-05	0.0089	0.0089	0.0095	0.0082	0.0303	0.0085	0.0083	0.0289	0.0284	0.0303	0	0.0041	0	0	0	0	0.0001	0.0090	0.0002	0.074	0.34982	T	0.114	0.40267	T	0.93	0.90584	P	0.471	0.73362	P	0.000185	0.48115	D	0.130931	0.995853	0.42890	D	2.595	0.75868	M	0.62	0.53302	T	-2.04	0.47683	N	0.588	0.61764	-0.9161	0.46076	T	0.086	0.33298	T	10	0.0085693	0.00194	T	.	.	.	0.129	0.35316	.	.	0.816351253515	0.81462	0.3599086159661429	0.35904	0.109910458727	0.12392	0.520099103451	0.41641	T	0.078612	0.35932	T	-0.293426	0.09295	T	-0.171265	0.57326	T	0.0163039175908371	0.00401	T	0.838616	0.51465	T	0.13458362	0.31265	0.1358563	0.32517	0.13922049	0.32167	0.13215181	0.31718	-10.356	0.76015	D	0.2575275129097195	0.34801	0.277	0.56527	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.760866	0.76968	26.6	0.99765112150982171	0.85417	0.98818	0.87255	D	AEFBI	0.866100	0.78542	D	0.714406869930313	0.80576	7.325051	0.75228247574607	0.86328	8.853792	0.999999919012029	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	6.03	6.03	0.97798	7.391000	0.79108	11.737000	0.95113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.135	0.93409	953	0.10115	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	391.98	33	chr9	78248353	.	G	C	391.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.837;DP=728;ExcessHet=0.0000;FS=1.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=-6.690e-01;SOR=0.941	GT:AD:DP:GQ:PL	0/1:20,16:36:99:406,0,475	20	0	1	0
chr9	83903946	83903946	G	A	exonic	KIF27	.	nonsynonymous SNV	KIF27:NM_001271927:exon4:c.C572T:p.A191V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	1.0	D	0.996	D	0.000	D	1.000	D	1.955	M	-0.97	T	-0.083	T	0.554	D	0.574	4.530	24.4	5.57	2.610	7.921	19.550	0.468	0.036659094421	0.0002	0.000399361	4.951e-05	0.0005	8.642e-05	0	0	0	0	0	5.17e-05	8	154602	rs147985902	1.3e-05	1.368e-05	1.906e-05	6.876e-06	0.0005	8.31e-06	6.7e-06	0.0003	0.0003	0.0005	2.236e-05	0	0	0	0	0	1.656e-05	0	0.0001	0.0001	0.0002	0.0001	0.0005	9.74e-05	8.255e-05	0.0004	0.0003	0.0005	0	0	0	0	0	0	0	0	0	0.024	0.47745	D	0.13	0.45961	T	0.999	0.90584	D	0.996	0.84481	D	0.000025	0.55875	D	0.000000	0.999998	0.58761	D	1.995	0.54099	M	-0.97	0.75670	T	-2.68	0.57275	D	0.401	0.49237	-0.0825	0.80498	T	0.554	0.83696	D	10	0.24776182	0.42062	T	0.036659	0.57130	D	0.468	0.76289	.	.	0.858497711603	0.85713	0.32867383037715586	0.32780	0.378931172671	0.39296	0.576826691628	0.49639	T	0.274425	0.64692	T	-0.140262	0.29848	T	-0.109252	0.62670	T	0.498449239269053	0.32573	T	0.972803	0.90184	D	0.48599026	0.66262	0.3566567	0.61173	0.48599026	0.66263	0.3566567	0.61173	-8.819	0.66525	D	.	.	0.218	0.44822	B	.;.;.	.;.;.	4.603510	0.72932	25.9	0.99903057375569793	0.97426	0.98931	0.88793	D	AEFGI	0.918201	0.88692	D	0.737634732270912	0.82097	7.679346	0.729718837512137	0.84635	8.347219	0.999999996397651	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.57	5.57	0.84021	8.035000	0.89178	10.006000	0.83069	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:1.0:0.0	19.550	0.95308	980	0.04108	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1216.98	35	chr9	83903946	.	G	A	1216.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.423e+00;DP=789;ExcessHet=0.0000;FS=2.083;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.60;ReadPosRankSum=-9.950e-01;SOR=0.441	GT:AD:DP:GQ:PL	0/1:28,50:78:99:1231,0,674	20	0	1	0
chr9	83944985	83944985	T	C	exonic	C9orf64	.	nonsynonymous SNV	C9orf64:NM_032307:exon3:c.A602G:p.K201R	.	.	431	1090	1	0	0	1	0.000458505	.	.	723639	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.58	T	0.046	B	0.04	B	0.000	D	1.000	D	1.285	L	.	.	-1.048	T	0.051	T	0.068	1.609	11.34	4.84	2.113	4.983	10.425	0.053	.	0.0114	0.00838658	0.0029	0.0325	0.0006	0	0	0.0001	0	0.0001	0.0027037	418	154602	rs73469357	0.0009	0.0009	0.0011	0.0007	0.0329	0.0009	0.0009	0.0313	0.0306	0.0329	0.0016	0	0	0	0.0005	5.792e-05	0.0021	8.373e-05	0.0088	0.0089	0.0090	0.0086	0.0302	0.0084	0.0083	0.0288	0.0282	0.0302	0	0.0041	0	0	0	0	0.0001	0.0104	0.0002	0.113	0.28772	T	0.177	0.29740	T	0.046	0.21875	B	0.04	0.23831	B	0.000002	0.62929	D	0.098334	0.999974	0.53665	D	.	.	.	.	.	.	-1.38	0.34198	N	0.143	0.14338	-1.0481	0.14932	T	0.051	0.21844	T	9	0.0044463873	0.00091	T	.	.	.	0.053	0.14996	.	.	0.386721274199	0.38283	0.48081522761330375	0.48001	0.323314107765	0.34500	.	.	.	0.008166	0.14841	T	-0.544354	0.00315	T	-0.530329	0.19253	T	0.0199034939373174	0.00691	T	0.775622	0.68343	T	0.28888226	0.51888	0.16553976	0.38290	0.28888226	0.51888	0.16553976	0.38289	-4.204	0.26809	T	.	.	0.069	0.04119	B	.;.	.;.	2.561906	0.33183	19.26	0.99004425446317557	0.50231	0.98517	0.83624	D	AEFGBI	0.733895	0.68019	D	-0.103163073873456	0.37254	2.164846	0.0713927685631413	0.43117	2.620191	0.157243765757195	0.17537	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.84	4.84	0.62125	4.946000	0.63276	2.275000	0.31858	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0783:0.0:0.9217	10.425	0.43559	971	0.05719	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	826.98	34	chr9	83944985	.	T	C	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.740e-01;DP=740;ExcessHet=0.0000;FS=1.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=-1.023e+00;SOR=1.038	GT:AD:DP:GQ:PL	0/1:27,30:57:99:841,0,760	20	0	1	0
chr9	84288056	84288056	C	T	exonic	SLC28A3	.	nonsynonymous SNV	SLC28A3:NM_001199633:exon12:c.G1272A:p.M424I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.004	B	0.017	B	0.000	D	0.972	D	-0.015	N	4.88	T	-0.726	T	0.004	T	0.223	2.190	13.28	4.69	2.786	1.387	7.144	0.074	0.00718256022586	0.0014	0.000798722	0.0003	0.0030	8.639e-05	0	0	0	0	0	0.0002329	36	154602	rs148078245	7.389e-05	7.456e-05	9.802e-05	4.951e-05	0.0027	6.249e-05	5.808e-05	0.0022	0.0020	0.0027	0.0001	0	0	0	0	2.698e-06	0.0002	0	0.0008	0.0008	0.0008	0.0007	0.0027	0.0007	0.0006	0.0023	0.0021	0.0027	0	0.0004	0	0	0	0	0	0.0005	0	0.208	0.19782	T	0.432	0.13634	T	0.004	0.12183	B	0.017	0.18140	B	0.000092	0.51296	D	0.231208	0.972342	0.38939	D	0.77	0.19370	N	4.88	0.01439	T	-1.01	0.26639	N	0.201	0.22228	-0.7259	0.59169	T	0.004	0.01192	T	10	0.004308611	0.00087	T	0.007183	0.19034	T	0.074	0.21613	0.266	0.21261	0.0401082797425	0.02173	0.39657761700676486	0.39572	0.242980448212	0.26804	0.444498717785	0.31192	T	0.003977	0.03383	T	-0.571482	0.00217	T	-0.599218	0.12877	T	0.0155978956467034	0.00356	T	0.627137	0.24302	T	0.33055374	0.55516	0.15073574	0.35537	0.33055374	0.55516	0.15073574	0.35537	-4.179	0.26447	T	.	.	0.209	0.43585	B	.	.	2.803196	0.36877	20.4	0.97294850411290712	0.33252	0.93619	0.58715	D	AEFI	0.431165	0.49357	N	-0.243285692504911	0.31372	1.758419	-0.00267342929923152	0.39596	2.350063	0.999646948844412	0.41316	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.6	4.69	0.58546	0.799000	0.26688	3.468000	0.38561	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.0:0.7091:0.147:0.1439	7.144	0.24751	957	0.09725	Concentrative nucleoside transporter C-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1738.98	36	chr9	84288056	.	C	T	1738.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.786;DP=831;ExcessHet=0.0000;FS=0.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.60;ReadPosRankSum=-3.580e-01;SOR=0.619	GT:AD:DP:GQ:PL	0/1:68,70:138:99:1753,0,1676	20	0	1	0
chr9	84292723	84292723	G	A	exonic	SLC28A3	.	nonsynonymous SNV	SLC28A3:NM_001199633:exon10:c.C968T:p.T323M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	0.954	N	-2.32	N	5.06	T	-0.911	T	0.001	T	0.115	-0.780	0.731	3.77	0.551	5.853	13.868	0.171	0.00952724644799	0.0004	0.000599042	0.0001	0.0011	0.0002	0	0	0	0	6.578e-05	0.00011	17	154602	rs144797643	5.526e-05	5.951e-05	6.458e-05	4.583e-05	0.0012	4.52e-05	4.187e-05	0.0009	0.0008	0.0012	0.0002	0	0	0	0	1.716e-05	0.0002	3.597e-05	0.0003	0.0003	0.0003	0.0003	0.0011	0.0003	0.0002	0.0008	0.0007	0.0011	0	0.0001	0	0	0	0	2.94e-05	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	N	0.160588	0.973623	0.26368	N	-2.56	0.00048	N	5.06	0.01260	T	4.75	0.00029	N	0.105	0.08925	-0.9112	0.46707	T	0.001	0.00378	T	10	0.006156087	0.00139	T	0.009527	0.24947	T	0.171	0.43483	.	.	0.0551355673512	0.04727	0.5814407685911789	0.58073	0.190368356995	0.21353	0.311374604702	0.12114	T	0.013098	0.11390	T	-0.583592	0.00183	T	-0.682553	0.06829	T	0.00828227964845612	0.00100	T	0.589041	0.21605	T	0.15320095	0.34738	0.1201493	0.28998	0.15320095	0.34737	0.1201493	0.28997	2.854	0.00024	T	.	.	0.042	0.00022	B	.	.	1.861642	0.23646	16.10	0.49617128577512715	0.04241	0.15846	0.19109	N	AEFBI	0.038758	0.05532	N	-1.10094925092511	0.06627	0.3055953	-0.759592662661289	0.15487	0.8147402	0.999998718279171	0.74766	0.497415	0.19182	0	0.468601	0.06657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.08	3.77	0.42499	5.877000	0.69421	8.097000	0.76542	-0.967000	0.01957	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.9343:0.0:0.0657:0.0	13.868	0.63097	923	0.18507	Nucleoside transporter/FeoB GTPase, Gate domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1282.98	38	chr9	84292723	.	G	A	1282.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.372;DP=810;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-3.680e-01;SOR=0.659	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1297,0,1303	20	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.935	H	-3.73	D	1.004	D	0.941	D	0.414	2.778	15.25	2.15	0.116	2.094	10.600	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;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	16167.74	344	chr9	92080918	.	G	C	16167.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.447e+00;DP=7903;ExcessHet=54.0936;FS=420.103;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.24;ReadPosRankSum=1.19;SOR=16.175	GT:AD:DP:GQ:PL	0/1:217,190:421:99:1493,0,3033	0	0	21	0
chr9	92459666	92459666	-	T	exonic	ASPN	.	frameshift insertion	ASPN:NM_017680:exon8:c.907dupA:p.I303Nfs*19,	.	.	438	1082	2	0	0	2	0.000923361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	.	0.0008	0.0002	0.0004	0	0	0.0011	0.0022	0.0007	0.0006468	100	154602	rs756640697	0.0009	0.0010	0.0009	0.0009	0.0011	0.0009	0.0009	0.0010	0.0010	0.0001	0.0006	0.0021	0	5.619e-05	0.0002	0.0011	0.0008	0.0007	0.0005	0.0005	0.0006	0.0004	0.0008	0.0004	0.0004	0.0006	0.0006	9.64e-05	0	0.0004	0.0026	0	0	0	0.0008	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2582.05	35	chr9	92459666	.	A	AT	2582.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.670e-01;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=26.35;ReadPosRankSum=0.754;SOR=0.736	GT:AD:DP:GQ:PL	1/1:4,94:98:99:2610,174,0	20	1	0	0
chr9	92474746	92474748	TCA	-	exonic	ASPN	.	nonframeshift deletion	ASPN:NM_001193335:exon2:c.150_152del:p.D50del	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/1:1,91,0,0,0,0:92:99:3660,237,0,3664,275,3702,3664,275,3702,3702,3664,275,3702,3702,3702,3664,275,3702,3702,3702,3702	1	2	3	0
chr9	92474748	92474748	-	TCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGA:p.D50_E51insD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/1:1,91,0,0,0,0:92:99:3660,237,0,3664,275,3702,3664,275,3702,3702,3664,275,3702,3702,3702,3664,275,3702,3702,3702,3702	1	2	3	0
chr9	92474748	92474748	-	TCATCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGATGA:p.D50_E51insDDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/1:1,91,0,0,0,0:92:99:3660,237,0,3664,275,3702,3664,275,3702,3702,3664,275,3702,3702,3702,3664,275,3702,3702,3702,3702	1	2	3	0
chr9	92474748	92474748	-	TCATCA	exonic	ASPN	.	nonframeshift insertion	ASPN:NM_001193335:exon2:c.149_150insTGATGA:p.D50_E51insDD	.	.	454	146	147	195	580	1117	0.647768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5714	49358.33	62	chr9	92474742	.	CTCATCA	CTCA,CTCATCATCA,CTCATCATCATCATCA,CTCATCATCATCA,C	49358.33	.	AC=13,15,1,4,3;AF=0.310,0.357,0.024,0.095,0.071;AN=42;BaseQRankSum=0.466;DP=2565;ExcessHet=0.1217;FS=0.000;InbreedingCoeff=0.2222;MLEAC=13,15,1,4,3;MLEAF=0.310,0.357,0.024,0.095,0.071;MQ=60.00;MQRankSum=0.00;QD=34.37;ReadPosRankSum=-1.900e-02;SOR=0.805	GT:AD:DP:GQ:PL	1/1:1,91,0,0,0,0:92:99:3660,237,0,3664,275,3702,3664,275,3702,3702,3664,275,3702,3702,3702,3664,275,3702,3702,3702,3702	1	2	3	0
chr9	97854424	97854424	-	GCC	exonic	FOXE1	.	nonframeshift insertion	FOXE1:NM_004473:exon1:c.510_511insGCC:p.A179_I180insA,	Bamforth-Lazarus syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs755194188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	10238.96	16	chr9	97854418	.	AGCCGCC	AGCCGCCGCC,A	10238.96	.	AC=2,29;AF=0.048,0.690;AN=42;BaseQRankSum=0.545;DP=637;ExcessHet=0.4237;FS=0.947;InbreedingCoeff=0.1378;MLEAC=2,29;MLEAF=0.048,0.690;MQ=60.00;MQRankSum=0.00;QD=30.56;ReadPosRankSum=1.13;SOR=0.623	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,17:17:51:1|1:97854418_AGCCGCC_A:695,695,695,51,51,0:97854418	2	0	1	0
chr9	100586054	100586054	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G698C:p.R233T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.871	P	0.000	D	0.757	D	1.61	L	0.18	T	-0.247	T	0.299	T	0.544	3.418	17.55	5.11	2.540	6.547	16.387	0.162	0.0694887468699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.056e-05	0.0023	1.122e-05	9.893e-06	1.21e-05	6.34e-06	5.03e-06	6.75e-06	5.2e-06	0	0	3.86e-05	0	0	0	1.21e-05	1.701e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.014	0.62352	D	0.99	0.63424	D	0.871	0.61869	P	0.000129	0.49741	D	0.000000	0.756557	0.33989	D	.	.	.	0.18	0.60361	T	-2.2	0.49519	N	0.457	0.49420	-0.2468	0.76445	T	0.299	0.67055	T	10	0.46477932	0.59503	T	0.069489	0.70744	D	0.162	0.41843	0.258	0.20002	0.427139414373	0.42328	0.2341529476637619	0.23330	0.308402732697	0.33150	0.728503465652	0.71288	T	0.102534	0.41034	T	0.0341579	0.56277	T	-0.188711	0.55711	T	0.924225926399231	0.58529	D	0.90371	0.66210	D	0.2688615	0.49958	0.31724674	0.57700	0.2688615	0.49958	0.31724674	0.57700	-8.203	0.62445	D	.	.	0.675	0.71929	P	.	.	4.547406	0.71534	25.7	0.98548972411744529	0.42820	0.96446	0.69180	D	AEFBI	0.735174	0.68107	D	0.613299247454443	0.74014	6.061404	0.593538571100228	0.74475	6.143361	0.999999930882717	0.74766	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	5.11	0.69188	6.577000	0.73916	9.701000	0.81303	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.499000	0.28994	0.0:0.0:1.0:0.0	16.387	0.83343	802	0.44336	.	.	.	.	.	.	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	0.05	52.15	33	chr9	100586054	.	G	C	52.15	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.155e+00;DP=1041;ExcessHet=0.1072;FS=103.898;InbreedingCoeff=-0.0593;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=2.96;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,11:83:7:0|1:100586052_G_C:7,0,2736:100586052	18	0	2	1
chr9	100586055	100586055	G	C	exonic	CAVIN4	.	nonsynonymous SNV	CAVIN4:NM_001018116:exon2:c.G699C:p.R233S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.969	D	0.821	P	0.000	D	0.518	N	1.61	L	0.19	T	-0.496	T	0.235	T	0.557	3.095	16.34	3.24	1.288	2.061	7.494	0.196	0.0829192868762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.307e-05	0.0029	2.591e-05	2.022e-05	0.0002	1.67e-05	1.429e-05	1.949e-05	1.685e-05	6.234e-05	0	0	0	0	0.0002	2.778e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.969	0.56768	D	0.821	0.59116	P	0.000129	0.49741	D	0.000000	0.517869	0.31594	N	.	.	.	0.19	0.60236	T	-1.49	0.36385	N	0.476	0.51137	-0.4964	0.68780	T	0.235	0.60197	T	10	0.47367412	0.60015	T	0.082919	0.74005	D	0.196	0.47777	0.322	0.30226	0.321672782286	0.31767	0.21857767357817443	0.21773	0.277654750267	0.30242	0.7022742033	0.67473	T	0.090632	0.38625	T	0.0182288	0.54142	T	-0.211592	0.53542	T	0.881147146224976	0.53119	D	0.89811	0.64401	D	0.2620145	0.49262	0.23967062	0.49322	0.2620145	0.49262	0.23967062	0.49321	-6.931	0.53529	T	.	.	0.856	0.80106	P	.	.	3.638836	0.51583	23.1	0.9975853377935664	0.84851	0.93365	0.58022	D	AEFBI	0.404018	0.47747	N	0.323277551888876	0.57346	3.901506	0.275658445211492	0.54123	3.578194	0.999929669172451	0.46280	0.67177	0.52595	0	0.547309	0.14657	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.11	3.24	0.36257	2.095000	0.41354	2.423000	0.32696	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.493000	0.28859	0.2751:0.0:0.7249:0.0	7.494	0.26646	802	0.44336	.	.	.	.	.	.	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	0.04762	53.24	66	chr9	100586055	.	G	C	53.24	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.805e+00;DP=1127;ExcessHet=0.1072;FS=104.887;InbreedingCoeff=-0.0479;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=2.98;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,11:82:10:0|1:100586052_G_C:10,0,2703:100586052	19	0	2	0
chr9	106929294	106929294	C	G	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_021224:exon3:c.C5382G:p.F1794L,	.	.	434	1085	3	0	0	3	0.00138058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.997	D	0.984	D	0.000	D	1.000	D	0.695	N	3.73	T	-1.099	T	0.035	T	0.797	3.282	17.02	4.25	0.911	1.523	10.066	0.190	0.0196948259482	0.0003	.	0.0003	0.0002	8.643e-05	0	0.0002	0.0005	0	0	0.0002652	41	154602	rs148824453	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0	0.0002	0.0007	0	0.0002	0.0003	0.0003	0.0004	9.275e-05	0.0003	0.0003	0.0003	0.0003	0.0007	0.0002	0.0002	0.0004	0.0003	4.815e-05	0	0.0007	0.0006	0	0	0.0034	0.0004	0	0	0.004	0.65419	D	0.0	0.92824	D	0.997	0.70673	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.46	0.12951	N	3.23	0.06931	T	-2.02	0.50666	N	0.425	0.55280	-1.0992	0.04189	T	0.035	0.14987	T	10	0.1063613	0.19705	T	0.019695	0.42129	T	0.190	0.46781	0.353	0.35246	0.117191471859	0.11215	0.482658108758287	0.48185	0.886748449925	0.70032	0.933324933052	0.99164	D	0.026775	0.20149	T	-0.217619	0.18319	T	-0.205433	0.54132	T	0.0398611725048257	0.03665	T	0.887811	0.64469	D	0.35343617	0.57333	0.24804012	0.50347	0.35343617	0.57333	0.24804012	0.50346	-6.061	0.46786	T	.	.	0.993	0.96661	P	.;.;.	.;.;.	3.677049	0.52319	23.2	0.99729913588324881	0.82690	0.93454	0.58260	D	AEFDBI	0.431977	0.49404	N	0.325394603805368	0.57454	3.912908	0.34837468276017	0.58408	4.011283	0.999999275862744	0.74766	0.67177	0.52595	0	0.446627	0.06534	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	6.08	4.25	0.49658	1.562000	0.35961	1.761000	0.28554	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.7966:0.0:0.2034	10.066	0.41474	676	0.60355	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	3011.98	36	chr9	106929294	.	C	G	3011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.87;DP=2088;ExcessHet=0.0000;FS=4.943;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=0.462;SOR=1.046	GT:AD:DP:GQ:PL	0/1:97,103:200:99:3026,0,2520	20	0	1	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.991	D	0.000	D	1.000	D	0.53	N	4.0	T	-1.074	T	0.061	T	0.838	4.266	22.3	5.66	2.151	7.665	15.905	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.2812	2879.53	98	chr9	106974250	.	T	C	2879.53	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-3.477e+00;DP=2598;ExcessHet=4.7172;FS=245.377;InbreedingCoeff=-0.3916;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.97;ReadPosRankSum=1.47;SOR=12.123	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,41:138:99:0|1:106974250_T_C:572,0,1999:106974250	7	0	9	5
chr9	112262562	112262562	T	G	exonic	PTBP3	.	nonsynonymous SNV	PTBP3:NM_001244896:exon4:c.A188C:p.Q63P	.	.	425	1073	22	2	0	26	0.0119705	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.991	D	0.926	D	0.000	D	1.000	D	2.44	M	1.38	T	0.432	D	0.663	D	0.541	4.515	24.3	5.86	2.240	2.578	16.267	0.217	0.0345064811117	0.0013	0.00139776	0.0022	9.649e-05	0.0009	0	0.0008	0.0018	0.0044	0.0072	0.0018952	293	154602	rs144595337	0.0014	0.0014	0.0012	0.0016	0.0090	0.0013	0.0013	0.0071	0.0064	0.0002	0.0012	7.662e-05	2.537e-05	0.0011	0.0090	0.0010	0.0021	0.0070	0.0009	0.0009	0.0008	0.0010	0.0048	0.0008	0.0008	0.0033	0.0028	0.0002	0	0.0014	0	0	0.0010	0.0034	0.0011	0.0014	0.0048	0.019	0.50132	D	0.094	0.41573	T	0.991	0.64070	D	0.926	0.66095	D	0.000102	0.50451	D	0.178585	0.999837	0.49637	D	2.65	0.77586	M	0.34	0.79666	T	-2.78	0.70314	D	0.385	0.46462	0.432	0.89573	D	0.663	0.88287	D	10	0.008808792	0.00200	T	0.034506	0.55723	D	0.217	0.51112	.	.	0.610410000811	0.60727	0.668210128799659	0.66759	0.155271682527	0.17525	0.427526414394	0.28870	T	0.229421	0.59524	T	-0.239945	0.15356	T	-0.113296	0.62348	T	0.0578514235064228	0.06826	T	0.875612	0.58729	D	0.66151863	0.75980	0.6524627	0.79661	0.66151863	0.75981	0.6524627	0.79662	-7.902	0.62835	D	.	.	0.060	0.10304	B	.;.;.;.;.;.	.;.;.;.;.;.	3.348243	0.46170	22.3	0.99523916324266826	0.69407	0.94007	0.59833	D	AEFBHCI	0.724574	0.67383	D	0.597539304070475	0.73020	5.898496	0.602351042160426	0.75112	6.253018	0.999999954581131	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.86	5.86	0.93936	2.995000	0.49129	4.242000	0.42712	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.267	0.82413	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	671.98	34	chr9	112262562	.	T	G	671.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.700e-02;DP=834;ExcessHet=0.0000;FS=2.058;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.45;SOR=0.972	GT:AD:DP:GQ:PL	0/1:38,27:65:99:686,0,1016	20	0	1	0
chr9	112332799	112332799	-	T	exonic	PTBP3	.	frameshift insertion	PTBP3:NM_001244898:exon1:c.44dupA:p.N15Kfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.854e-05	0	0	0	0	0	0	0.0006	5.82e-05	9	154602	rs747249256	2.328e-05	2.326e-05	4.088e-06	4.267e-05	0.0003	1.676e-05	1.479e-05	0.0003	0.0002	0	0	0	0	0	0	8.995e-07	4.971e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.343e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0.0002	0	0.0034	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	494.94	33	chr9	112332799	.	A	AT	494.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.394e+00;DP=730;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.25;ReadPosRankSum=-1.087e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:26,18:44:99:509,0,796	20	0	1	0
chr9	112838537	112838537	C	T	exonic	SNX30	.	nonsynonymous SNV	SNX30:NM_001012994:exon6:c.C854T:p.S285F,	.	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.977	D	0.000	D	1.000	D	1.7	L	1.73	T	-0.985	T	0.112	T	0.879	3.429	17.60	5.4	2.524	7.443	19.183	0.281	.	0.0006	0.00339457	0.0013	0	0.0004	0	0	0.0009	0	0.0055	0.0011643	180	154602	rs192545589	0.0008	0.0008	0.0006	0.0009	0.0051	0.0007	0.0007	0.0047	0.0046	0.0004	0.0006	0	0	0	0.0033	0.0005	0.0008	0.0051	0.0007	0.0007	0.0007	0.0007	0.0050	0.0006	0.0006	0.0034	0.0029	0.0003	0	0.0012	0	0	0	0.0102	0.0007	0.0019	0.0050	0.028	0.46129	D	0.062	0.45318	T	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	1.73	0.26445	T	-2.26	0.50502	N	0.654	0.66443	-0.9849	0.33856	T	0.112	0.40052	T	10	0.009195298	0.00208	T	.	.	.	0.281	0.59861	.	.	0.176862962021	0.17281	0.6963577927378339	0.69576	1.03830873914	0.75688	0.68744379282	0.65339	T	0.208901	0.56896	T	-0.12288	0.32655	T	0.0523577	0.73739	D	0.127531483769417	0.15152	T	0.950605	0.81072	D	0.32067564	0.54697	0.23084652	0.48198	0.32067564	0.54697	0.23084652	0.48197	-8.073	0.61567	D	.	.	0.247	0.48124	B	.	.	4.572592	0.72161	25.8	0.99805050807870455	0.88906	0.98676	0.85452	D	AEFBI	0.894895	0.83436	D	0.618525323020078	0.74345	6.117228	0.573728917633802	0.73064	5.909455	0.999999999999996	0.74766	0.638212	0.43195	0	0.593476	0.48661	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.4	5.4	0.77957	7.568000	0.81546	7.626000	0.62520	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.586000	0.31041	0.0:1.0:0.0:0.0	19.183	0.93617	877	0.30165	.	.	.	.	.	.	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	0.04762	2125.11	37	chr9	112838537	.	C	T	2125.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.31;DP=826;ExcessHet=0.1072;FS=3.971;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.760;SOR=0.449	GT:AD:DP:GQ:PL	0/1:36,36:72:99:907,0,973	19	0	2	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.956	D	0.000	D	1.000	D	2.295	M	3.72	T	-1.147	T	0.071	T	0.888	2.729	15.09	4.38	2.485	0.438	9.668	0.246	0.0237251287023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.249	0.34959	T	0.996	0.68779	D	0.956	0.69739	D	0.000003	0.62929	D	0.058524	0.999998	0.58761	D	2.485	0.72352	M	3.72	0.11082	T	-1.76	0.41618	N	0.794	0.79022	-1.1467	0.01127	T	0.071	0.28969	T	10	0.7061209	0.72749	D	0.023725	0.46702	T	0.246	0.55340	0.267	0.21418	0.465381546717	0.46164	0.546202977391294	0.54546	0.217767607061	0.24300	0.665198624134	0.62152	T	0.178877	0.52967	T	0.156707	0.69894	D	-0.0126771	0.69508	D	0.965095579624176	0.67160	D	0.918408	0.70674	D	0.43276304	0.62933	0.30041197	0.56075	0.43276304	0.62933	0.30041197	0.56074	-3.765	0.20655	T	.	.	0.861	0.82156	P	.;.;.	.;.;.	4.122777	0.61634	24.4	0.99728939135831174	0.82619	0.85209	0.44322	D	AEFDBI	0.404361	0.47768	N	0.490746823562894	0.66546	4.964436	0.418910173237003	0.62744	4.495032	0.999998553595518	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	4.38	0.52019	0.480000	0.21954	1.068000	0.23780	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.662000	0.33024	0.0:0.8454:0.0:0.1546	9.668	0.39158	627	0.65350	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.3529	5368.01	152	chr9	114406374	.	C	G	5368.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.027e+00;DP=4227;ExcessHet=9.6308;FS=138.874;InbreedingCoeff=-0.5312;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.063;SOR=12.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:137,44:181:99:.:.:432,0,2407	5	0	12	4
chr9	122390342	122390342	G	A	exonic	PTGS1	.	nonsynonymous SNV	PTGS1:NM_001271164:exon9:c.G1297A:p.V433I	.	.	412	1099	10	1	0	12	0.00542986	.	.	3185198	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.1	B	0.108	B	0.000	D	0.964	N	0	N	2.99	T	-1.016	T	0.012	T	0.579	2.523	14.40	4.25	0.890	7.524	9.787	0.250	.	0.0058	0.00658946	0.0076	0.0020	0.0057	0.0004	0.0068	0.0100	0.0057	0.0065	0.0073932	1143	154602	rs5794	0.0082	0.0082	0.0081	0.0082	0.0088	0.0080	0.0080	0.0086	0.0086	0.0024	0.0058	0.0118	0.0003	0.0074	0.0064	0.0088	0.0072	0.0076	0.0063	0.0063	0.0061	0.0064	0.0086	0.0060	0.0058	0.0080	0.0078	0.0025	0	0.0080	0.0081	0	0.0051	0.0136	0.0086	0.0095	0.0085	0.004	0.78490	D	0.01	0.76473	D	0.1	0.25713	B	0.108	0.31289	B	0.000066	0.52346	D	0.197844	0.963965	0.26002	N	0	0.06538	N	2.99	0.09262	T	-0.92	0.25118	N	0.225	0.25377	-1.0157	0.25110	T	0.012	0.04747	T	10	0.009871095	0.00221	T	.	.	.	0.250	0.55888	.	.	0.442363741745	0.43858	0.632608548182357	0.63194	0.271975426216	0.29707	0.484568476677	0.36686	T	0.136546	0.46898	T	-0.416541	0.01800	T	-0.360721	0.37969	T	0.0620336465735846	0.07485	T	0.873013	0.60027	D	0.2699408	0.50066	0.15628308	0.36596	0.2699408	0.50066	0.15628308	0.36595	-1.917	0.02914	T	.	.	0.105	0.24054	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.622330	0.34083	19.53	0.99004802753294774	0.50231	0.17537	0.19880	N	AEFDGBCIJ	0.092179	0.18663	N	-0.362090131955795	0.26831	1.467337	-0.184664653741837	0.32098	1.822901	0.999999998826456	0.74766	0.740787	0.97801	0	0.696367	0.67918	0	0.651303	0.49530	0	0.635259	0.50027	0	.	.	5.38	4.25	0.49658	7.512000	0.80617	8.123000	0.76630	-0.116000	0.14526	1.000000	0.71638	1.000000	0.68203	0.830000	0.39126	0.9178:0.0:0.0822:0.0	9.787	0.39849	896	0.25515	.;.;.;.;.;.;.	.	.	PTGS1	Cells_Cultured_fibroblasts	.	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	0.02381	1047.98	42	chr9	122390342	.	G	A	1047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.081e+00;DP=779;ExcessHet=0.0000;FS=9.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=0.317;SOR=0.195	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1062,0,905	20	0	1	0
chr9	122519217	122519228	TGTTCTTCACCC	-	exonic	OR1J4	.	nonframeshift deletion	OR1J4:NM_001004452:exon1:c.77_88del:p.F28_F31del,	.	.	424	1088	10	0	0	10	0.00457457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0008	0	0.0002	0	0	5.997e-05	0.0011	0.0056	0.0001921	5	26028	rs554360749	0.0004	0.0004	0.0002	0.0006	0.0069	0.0004	0.0004	0.0064	0.0062	2.987e-05	0	3.826e-05	0	0	0.0017	9.892e-06	0.0004	0.0069	0.0002	0.0002	0.0001	0.0003	0.0056	0.0001	0.0001	0.0039	0.0034	0	0	0	0	0	0	0	0	0	0.0056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4670.94	35	chr9	122519216	.	GTGTTCTTCACCC	G	4670.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.29;DP=1001;ExcessHet=0.0000;FS=5.669;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.56;ReadPosRankSum=0.744;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,122:266:99:0|1:122519216_GTGTTCTTCACCC_G:4685,0,5667:122519216	20	0	1	0
chr9	123161044	123161044	G	A	exonic	STRBP	.	nonsynonymous SNV	STRBP:NM_001376106:exon6:c.C560T:p.P187L	.	.	440	1072	10	0	0	10	0.00464253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.208	B	0.177	B	0.039	N	1.000	D	1.85	L	1.03	T	-0.925	T	0.153	T	0.669	4.633	25.4	5.87	2.775	5.438	20.211	0.265	0.00673242982643	7.7e-05	.	0.0006	0	9.325e-05	0	0	0.0004	0	0.0028	0.0004786	74	154602	rs142444657	0.0003	0.0003	0.0002	0.0003	0.0023	0.0003	0.0003	0.0019	0.0018	0	9.577e-05	0.0025	5.198e-05	0	0.0023	9.755e-05	0.0007	0.0022	0.0002	0.0002	0.0002	0.0002	0.0019	0.0001	0.0001	0.0010	0.0007	0	0	0	0.0014	0	0	0.0034	0.0002	0.0014	0.0019	0.019	0.50676	D	0.08	0.41913	T	0.208	0.29916	B	0.177	0.35687	B	0.039371	0.24178	N	0.463442	1	0.81001	D	2.095	0.58118	M	1.03	0.40469	T	-6.09	0.89947	D	0.423	0.46274	-0.9247	0.44901	T	0.153	0.48222	T	10	0.032680303	0.01425	T	0.006732	0.17784	T	0.265	0.57870	.	.	0.184605227958	0.18053	0.4574599938366358	0.45663	0.912855537141	0.71125	0.66125613451	0.61590	T	0.410613	0.76530	T	-0.278932	0.10781	T	-0.179919	0.56531	T	0.105363455505493	0.12936	T	0.961204	0.85427	D	0.21999906	0.44545	0.38012466	0.63051	0.21999906	0.44545	0.38012466	0.63051	-8.154	0.62114	D	.	.	0.121	0.27009	B	.;.;.	.;.;.	4.122673	0.61634	24.4	0.99917735051351897	0.98518	0.98527	0.83734	D	AEFGBI	0.586457	0.58449	D	0.309953762212396	0.56658	3.830923	0.454978974335932	0.65037	4.773324	0.999999999997967	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	5.87	5.87	0.94266	4.764000	0.61961	8.724000	0.78169	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.211	0.98289	525	0.74024	DZF domain|DZF domain|DZF domain;DZF domain|DZF domain|DZF domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	829.98	37	chr9	123161044	.	G	A	829.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.579;DP=761;ExcessHet=0.0000;FS=2.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.883;SOR=1.045	GT:AD:DP:GQ:PL	0/1:33,37:70:99:844,0,700	20	0	1	0
chr9	125337586	125337586	G	A	exonic	GAPVD1	.	nonsynonymous SNV	GAPVD1:NM_001282681:exon15:c.G2809A:p.G937R	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.999	D	0.976	D	0.000	D	1.000	D	0.695	N	.	.	-0.963	T	0.185	T	0.676	5.173	32	6.17	2.941	7.421	19.868	0.133	0.00418107372795	.	.	0.0002	0	0.0002	0	0	9.119e-05	0	0.0010	0.0001552	24	154602	rs202229222	9.925e-05	9.919e-05	7.627e-05	0.0001	0.0010	8.583e-05	8.052e-05	0.0008	0.0007	0	0.0002	3.835e-05	0	3.769e-05	0	4.228e-05	6.626e-05	0.0010	7.227e-05	7.224e-05	5.138e-05	9.414e-05	0.0006	3.971e-05	3.127e-05	0.0002	8.981e-05	0	0	0.0001	0	0	0	0	5.878e-05	0.0010	0.0006	0.009	0.72154	D	0.01	0.70582	D	0.999	0.77913	D	0.976	0.73562	D	0.000000	0.84330	D	0.047947	1	0.81001	D	0.895	0.22405	L	.	.	.	-2.36	0.57275	N	0.649	0.69037	-0.9630	0.38606	T	0.185	0.53421	T	9	0.084151566	0.14075	T	0.004181	0.10058	T	0.304	0.62510	0.127	0.03251	0.366868811517	0.36303	0.5378032660652269	0.53705	0.846509016413	0.68332	0.816745221615	0.84528	D	0.024343	0.29607	T	-0.103324	0.35875	T	0.00210057	0.70472	D	0.075086420777365	0.09347	T	0.978302	0.93484	D	0.4847483	0.66187	0.513924	0.71914	0.4847483	0.66188	0.513924	0.71914	-3.557	0.18994	T	.	.	0.575	0.69906	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.845216	0.79146	27.0	0.99934165072689995	0.99535	0.97959	0.78437	D	AEFDBHCI	0.903934	0.85361	D	0.362227958903113	0.59389	4.117804	0.518837538973071	0.69260	5.334886	1.0	0.98316	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	6.17	6.17	0.99707	6.495000	0.73573	11.870000	0.98549	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.868	0.96822	846	0.36215	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1091.98	39	chr9	125337586	.	G	A	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.23;DP=770;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=-1.205e+00;SOR=0.787	GT:AD:DP:GQ:PL	0/1:44,40:84:99:1106,0,1096	20	0	1	0
chr9	127707148	127707148	G	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.G117C:p.E39D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.58	P	0.16	B	0.012	N	1.000	D	1.87	L	0.85	T	-1.078	T	0.089	T	0.151	2.394	13.96	2.23	0.458	0.075	3.228	0.048	0.00511713534183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	4.926e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.133	0.34359	T	0.58	0.38813	P	0.16	0.34752	B	0.011693	0.29437	N	0.400143	0.937019	0.26902	N	.	.	.	0.85	0.47130	T	-2.13	0.48354	N	0.253	0.28616	-1.0776	0.07821	T	0.089	0.34271	T	10	0.15869087	0.29835	T	0.005117	0.13001	T	0.048	0.13305	0.117	0.02508	0.511220899679	0.50763	0.22389107574446282	0.22304	0.665481085244	0.59146	.	.	.	0.083009	0.36958	T	-0.233602	0.16174	T	-0.573329	0.15145	T	0.768105268478394	0.44326	D	0.642936	0.25461	T	0.07620602	0.17219	0.08653153	0.20054	0.07620602	0.17219	0.08653153	0.20054	-5.906	0.47647	T	.	.	0.170	0.37312	B	.;.	.;.	1.611943	0.20598	14.82	0.99153328533649743	0.53875	0.62448	0.31784	D	AEFDGBCI	0.199371	0.32618	N	-0.115357649790928	0.36724	2.126585	-0.0733379664216469	0.36497	2.124728	0.999992507834303	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	2.23	0.27189	0.091000	0.14885	0.384000	0.17813	0.649000	0.52879	0.993000	0.37899	0.958000	0.29226	0.883000	0.42306	0.3494:0.0:0.4698:0.1808	3.228	0.06340	268	0.89479	.;.	.	.	.	.	.	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	0.425	2743.82	57	chr9	127707148	.	G	C,A	2743.82	.	AC=11,6;AF=0.275,0.150;AN=40;BaseQRankSum=-9.810e-01;DP=1576;ExcessHet=25.1139;FS=227.043;InbreedingCoeff=-0.7001;MLEAC=11,6;MLEAF=0.275,0.150;MQ=60.00;MQRankSum=0.00;QD=2.28;ReadPosRankSum=0.651;SOR=11.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:43,16,16:75:99:.:.:402,126,838,0,570,693	3	0	11	1
chr9	128258520	128258522	CCT	-	exonic	GOLGA2	.	nonframeshift deletion	GOLGA2:NM_001366246:exon21:c.2105_2107del:p.E703del	.	.	334	916	219	43	10	315	0.142723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	6196.26	36	chr9	128258516	.	GCCTCCT	GCCT,G	6196.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-2.320e-01;DP=932;ExcessHet=1.7912;FS=2.196;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=0.432;SOR=0.574	GT:AD:DP:GQ:PL	0/1:26,13,0:39:99:462,0,1011,540,1051,1590	15	0	5	0
chr9	131525948	131525948	C	A	exonic	UCK1	.	nonsynonymous SNV	UCK1:NM_001135954:exon5:c.G538T:p.A180S,	.	.	441	12	103	962	4	2031	0.988298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	0.000	P	.	.	.	.	-1.006	T	0.084	T	.	1.509	11.00	-5.08	-1.075	-1.779	8.437	0.047	.	.	0.00359425	0.0115	0.0019	0.0029	0	0.0449	0.0153	0.0165	0.0005	0.0101616	1571	154602	rs2296957	0.0096	0.0096	0.0096	0.0095	0.0095	0.0094	0.0094	0.0093	0.0093	0.0010	0.0026	0.0129	0	0.0450	0.0040	0.0095	0.0079	0.0007	0.0100	0.0100	0.0094	0.0106	0.0126	0.0096	0.0094	0.0119	0.0117	0.0019	0.0022	0.0045	0.0130	0	0.0421	0.0102	0.0126	0.0076	0.0006	0.011	0.55530	D	0.243	0.24193	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.961213	0.81001	P	.	.	.	.	.	.	0.0	0.07008	N	0.172	0.18376	-1.0056	0.28277	T	0.084	0.32900	T	6	0.0025280416	0.00038	T	.	.	.	0.047	0.12962	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.405995	0.02114	T	-0.339041	0.40452	T	0.00859621503851041	0.00105	T	0.247575	0.03662	T	.	.	.	.	.	.	.	.	-3.789	0.20640	T	.	.	0.073	0.04599	B	.	.	-0.350826	0.02404	0.268	0.94187066689665522	0.24411	0.05572	0.11472	N	AEFDGBI	0.025031	0.01647	N	-1.132785988659	0.06068	0.2783438	-1.18764225716248	0.06115	0.2933808	0.994168486267738	0.33516	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	-5.08	0.02708	-1.771000	0.01887	-0.905000	0.06976	-2.303000	0.00321	0.001000	0.13787	0.000000	0.08366	0.763000	0.36255	0.1735:0.394:0.4325:0.0	8.437	0.31954	419	0.81524	.	.	.	.	.	.	Likely benign	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	0.9048	62824.01	90	chr9	131525948	.	C	T,A	62824.01	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-7.610e-01;DP=2393;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=60.00;MQRankSum=0.00;QD=26.87;ReadPosRankSum=0.558;SOR=0.662	GT:AD:DP:GQ:PL	1/1:0,72,0:72:99:2271,216,0,2271,216,2271	0	17	3	0
chr9	134421677	134421677	C	T	exonic	RXRA	.	nonsynonymous SNV	RXRA:NM_001291921:exon5:c.C491T:p.P164L	.	.	427	1094	1	0	0	1	0.00045683	0.0139	0.11	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.141	B	0.014	B	0.000	D	1.000	D	1.335	L	0.71	T	-1.016	T	0.105	T	0.765	2.245	13.47	4.51	2.055	7.420	17.258	0.290	.	.	0.00299521	0.0009	0	8.708e-05	0.0001	0	4.688e-05	0.0038	0.0095	0.0009767	151	154602	rs2234960	0.0005	0.0005	0.0003	0.0007	0.0074	0.0004	0.0004	0.0069	0.0067	3.065e-05	0	0	2.559e-05	0	0.0004	5.834e-05	0.0003	0.0074	0.0003	0.0003	0.0002	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0072	0.05	0.39575	D	0.116	0.36497	T	0.141	0.27581	B	0.014	0.16862	B	0.000356	0.45440	D	0.229986	1	0.81001	D	1.825	0.47900	L	0.71	0.51228	T	-3.61	0.69477	D	0.416	0.45615	-1.0159	0.25045	T	0.105	0.38562	T	10	0.009608179	0.00216	T	.	.	.	0.290	0.60924	0.104	0.01698	0.889384210098	0.88829	0.7269824113318207	0.72642	1.22001278957	0.81056	0.794239640236	0.81087	T	0.411849	0.76618	T	-0.227628	0.16963	T	-0.0944801	0.63821	T	0.171345764056065	0.18671	T	0.945105	0.79107	D	0.31944543	0.54593	0.20539339	0.44706	0.3289293	0.55383	0.23977481	0.49334	-10.457	0.76600	D	0.12133314221763428	0.11504	0.125	0.26263	B	.	.	4.191399	0.63170	24.5	0.96168104791119069	0.28920	0.94997	0.63064	D	AEFDGBHCI	0.937287	0.93485	D	-0.211744992828363	0.32652	1.84371	-0.0944927031133889	0.35618	2.062782	0.999999999997299	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.51	4.51	0.54589	7.548000	0.81103	7.424000	0.58739	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.0:1.0:0.0:0.0	17.258	0.86948	784	0.47045	Nuclear hormone receptor, ligand-binding 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	0.04762	4964.11	37	chr9	134421677	.	C	T	4964.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.58;DP=1160;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.65;ReadPosRankSum=0.626;SOR=0.705	GT:AD:DP:GQ:PL	0/1:128,106:234:99:2604,0,2977	19	0	2	0
chr9	136383545	136383545	-	GCTGCT	exonic	SNAPC4	.	nonframeshift insertion	SNAPC4:NM_003086:exon15:c.1623_1624insAGCAGC:p.S542_E543insSS,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	6548.32	36	chr9	136383542	.	CGCT	C,CGCTGCTGCT	6548.32	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-3.600e-02;DP=974;ExcessHet=0.9430;FS=6.521;InbreedingCoeff=0.0101;MLEAC=8,1;MLEAF=0.190,0.024;MQ=59.99;MQRankSum=0.00;QD=16.66;ReadPosRankSum=-6.600e-02;SOR=0.992	GT:AD:DP:GQ:PL	0/1:24,15,0:39:99:552,0,962,624,1008,1632	13	1	6	0
chr9	136404173	136404173	G	A	exonic	ENTR1	.	stopgain	ENTR1:NM_001039708:exon7:c.C871T:p.R291X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.238	N	1.000	A	.	.	.	.	.	.	.	.	.	1.897	12.30	3.62	2.281	0.935	8.727	.	.	8.1e-05	.	1.7e-05	0	0	0	0	1.537e-05	0	6.433e-05	1.29e-05	2	154602	rs201271878	1.646e-05	1.847e-05	1.774e-05	1.518e-05	2.994e-05	1.114e-05	9.36e-06	1.177e-05	9.56e-06	2.994e-05	0	0	0	1.903e-05	0	1.802e-05	0	2.323e-05	1.971e-05	1.97e-05	3.853e-05	0	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.237811	0.15778	N	0.601453	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.198	0.21839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239526	0.77617	D	0.288433	0.87572	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.	High;.;.	9.170126	0.98563	40	0.9957366284861906	0.72561	0.16749	0.19531	N	AEFDGBCI	0.163369	0.28965	N	0.31230034290576	0.56779	3.84327	0.0405436072701947	0.41617	2.503	0.999999948163861	0.74766	0.67177	0.52595	0	0.601644	0.50151	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.66	3.62	0.40616	0.418000	0.20950	4.531000	0.43726	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.405000	0.26894	0.0:0.1245:0.6446:0.2309	8.727	0.33635	912	0.21483	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1711.98	37	chr9	136404173	.	G	A	1711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.440;DP=904;ExcessHet=0.0000;FS=0.613;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-6.510e-01;SOR=0.638	GT:AD:DP:GQ:PL	0/1:68,74:142:99:1726,0,1503	20	0	1	0
chr9	136799725	136799725	A	T	exonic	CCDC183	.	nonsynonymous SNV	CCDC183:NM_001039374:exon3:c.A205T:p.T69S,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.047	B	0.022	B	0.939	U	0.879	N	1.7	L	2.72	T	-0.934	T	0.024	T	0.063	2.577	14.58	-4.68	-0.785	-0.152	4.424	0.038	0.00765807881367	0.0022	0.000399361	0.0025	0.0005	0.0020	0	0.0007	0.0033	0.0089	0.0027	0.0022833	353	154602	rs199913585	0.0023	0.0023	0.0022	0.0024	0.0305	0.0022	0.0022	0.0268	0.0254	0.0008	0.0020	0.0178	0	0.0003	0.0305	0.0019	0.0038	0.0031	0.0017	0.0017	0.0019	0.0015	0.0031	0.0016	0.0015	0.0019	0.0015	0.0004	0	0.0019	0.0202	0	0.0004	0.0306	0.0017	0.0038	0.0031	0.373	0.11442	T	0.039	0.51112	D	0.047	0.21998	B	0.022	0.19653	B	0.938737	0.07581	U	1.047410	0.999996	0.08975	N	1.935	0.51832	L	2.72	0.11947	T	-0.84	0.22944	N	0.202	0.22357	-0.9336	0.43605	T	0.024	0.10013	T	10	0.0049142838	0.00105	T	0.007658	0.20325	T	0.038	0.09825	0.191	0.10171	0.104622674875	0.10061	0.10181276940102582	0.10112	0.207345201098	0.23191	0.343333005905	0.16936	T	0.008954	0.08187	T	-0.642098	0.00081	T	-0.700032	0.05824	T	0.01447804924367	0.00294	T	0.534647	0.17878	T	0.11584996	0.27332	0.07161225	0.15356	0.11584996	0.27332	0.07161225	0.15355	-3.254	0.13151	T	.	.	0.143	0.31482	B	.	.	2.203206	0.28101	17.69	0.91985349370051916	0.21318	0.05868	0.11815	N	AEFDBHCI	0.054065	0.09798	N	-1.12903859983484	0.06132	0.2814402	-1.20507104331509	0.05828	0.2787952	0.999999927819922	0.74766	0.443343	0.08805	1	0.552344	0.17405	0	0.666236	0.60216	0	0.620976	0.48614	0	.	.	5.28	-4.68	0.03070	0.530000	0.22742	0.564000	0.19539	0.658000	0.54486	0.688000	0.28513	0.048000	0.21764	0.456000	0.28029	0.3242:0.0:0.401:0.2747	4.424	0.10921	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	0.02381	615.98	43	chr9	136799725	.	A	T	615.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.464e+00;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-3.650e-01;SOR=0.616	GT:AD:DP:GQ:PL	0/1:26,27:53:99:630,0,672	20	0	1	0
chr9	137079340	137079340	A	G	exonic	UAP1L1	.	nonsynonymous SNV	UAP1L1:NM_207309:exon5:c.A928G:p.I310V,	.	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.021	B	0.089	B	0.001	N	0.974	D	1.55	L	2.59	T	-1.075	T	0.029	T	0.118	2.093	12.95	-0.475	-0.046	0.546	5.747	0.037	0.00756657724063	.	.	6.652e-05	0	0	0	0	3.039e-05	0.0011	0.0003	5.17e-05	8	154602	rs746033411	5.545e-05	5.541e-05	4.359e-05	6.743e-05	0.0007	4.546e-05	4.158e-05	0.0003	0.0003	0	0	0	0	1.901e-05	0.0007	3.148e-05	8.283e-05	0.0004	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	0.084	0.37536	T	0.081	0.41742	T	0.021	0.18474	B	0.089	0.29769	B	0.000979	0.40836	N	0.275088	0.974379	0.39099	D	1.965	0.53209	M	2.59	0.13317	T	-0.64	0.18877	N	0.063	0.03841	-1.0745	0.08452	T	0.029	0.12497	T	10	0.07638538	0.11926	T	0.007567	0.20086	T	0.037	0.09474	0.643	0.78010	0.0401082797425	0.02173	0.46866430027046585	0.46785	0.217646575872	0.24287	0.355811864138	0.18774	T	0.014174	0.12117	T	-0.510728	0.00497	T	-0.649436	0.08993	T	0.0377244846848824	0.03283	T	0.888711	0.61924	D	0.034782548	0.03970	0.042601824	0.05110	0.034782548	0.03970	0.042601824	0.05110	-7.129	0.56947	T	.	.	0.174	0.38208	B	.;.	.;.	2.700458	0.35275	19.85	0.95881011427132756	0.28076	0.91907	0.54522	D	AEFDGBI	0.250252	0.37033	N	-0.621297394756116	0.18306	0.9492935	-0.550133884854247	0.20803	1.122468	0.999988086653102	0.51787	0.706548	0.73137	0	0.696144	0.67643	0	0.619478	0.44681	0	0.714379	0.83352	0	.	.	4.91	-0.475	0.11501	0.546000	0.22991	0.278000	0.16735	-0.118000	0.14412	0.994000	0.38300	0.549000	0.25458	0.927000	0.46353	0.5661:0.1387:0.2952:0.0	5.747	0.17392	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1062.98	42	chr9	137079340	.	A	G	1062.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.830e-01;DP=1295;ExcessHet=0.0000;FS=0.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.075;SOR=0.839	GT:AD:DP:GQ:PL	0/1:51,44:95:99:1077,0,1321	20	0	1	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.034	B	0.012	B	0.000	D	1.000	D	0.69	N	1.42	T	-1.076	T	0.048	T	0.262	1.919	12.37	5.57	2.133	5.075	10.134	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	4683.86	92	chr10	825249	.	T	C	4683.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-3.067e+00;DP=2503;ExcessHet=20.9642;FS=199.373;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=2.22;ReadPosRankSum=2.13;SOR=13.018	GT:AD:DP:GQ:PL	0/1:86,44:130:99:429,0,1427	5	0	16	0
chr10	7964303	7964303	A	G	exonic	TAF3	.	nonsynonymous SNV	TAF3:NM_031923:exon3:c.A793G:p.T265A,	.	.	430	1085	6	1	0	8	0.00367309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.0	B	0.301	N	1.000	N	0.51	N	2.32	T	-0.961	T	0.011	T	0.044	0.172	4.924	-5.12	-0.790	-0.193	3.38	0.048	0.00506326915092	0.0034	0.00239617	0.0036	0.0008	0.0029	0	0.0023	0.0052	0.0067	0.0015	0.0036675	567	154602	rs41290305	0.0055	0.0055	0.0056	0.0054	0.0064	0.0054	0.0054	0.0063	0.0063	0.0010	0.0023	0.0066	0	0.0027	0.0031	0.0064	0.0060	0.0011	0.0036	0.0036	0.0036	0.0035	0.0057	0.0033	0.0032	0.0053	0.0051	0.0009	0	0.0038	0.0075	0	0.0015	0	0.0057	0.0028	0.0023	0.195	0.20759	T	0.686	0.05995	T	0.0	0.02946	B	0.0	0.01387	B	0.301276	0.14593	N	0.654017	0.999992	0.08975	N	0.895	0.22405	L	2.32	0.16640	T	-0.43	0.14390	N	0.031	0.00770	-0.9608	0.39031	T	0.011	0.04042	T	10	0.0031517148	0.00053	T	0.005063	0.12815	T	0.048	0.13305	.	.	0.223474106383	0.21959	0.07085597968474962	0.07022	0.197051641399	0.22076	0.383052200079	0.22689	T	0.007854	0.07229	T	-0.69733	0.00038	T	-0.771969	0.02704	T	0.00165964828280725	0.00017	T	0.451055	0.12757	T	0.019617142	0.00496	0.025068372	0.00541	0.019617142	0.00496	0.025068372	0.00540	-3.693	0.19215	T	.	.	0.061	0.01059	B	.	.	-0.137639	0.03423	0.624	0.69135119284529822	0.08876	0.10363	0.15890	N	AEFBI	0.039201	0.05659	N	-1.3727612571866	0.02896	0.1285443	-1.35911843885743	0.03700	0.1731067	0.0779509466719556	0.15773	0.706548	0.73137	0	0.653731	0.59785	0	0.653264	0.51672	0	0.714379	0.83352	0	.	.	5.67	-5.12	0.02674	-0.184000	0.09693	0.097000	0.14596	-0.050000	0.17177	0.216000	0.24491	0.005000	0.19230	0.917000	0.45243	0.1874:0.0886:0.3868:0.3372	3.38	0.06829	777	0.48198	.	.	.	.	.	.	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	0.02381	1836.98	34	chr10	7964303	.	A	G	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.480e-01;DP=818;ExcessHet=0.0000;FS=2.373;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.18;ReadPosRankSum=0.452;SOR=0.953	GT:AD:DP:GQ:PL	0/1:49,72:121:99:1851,0,1178	20	0	1	0
chr10	17796275	17796275	C	T	exonic	TMEM236	.	nonsynonymous SNV	TMEM236:NM_001098844:exon4:c.C827T:p.S276F,	.	.	432	1078	12	0	0	12	0.00553506	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	.	.	.	.	.	.	1.98	T	-0.743	T	0.129	T	0.801	3.708	18.83	3.58	2.032	5.726	11.007	0.360	0.0127811636741	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1032686581	0.0081	0.0080	0.0082	0.0079	0.0090	0.0079	0.0079	0.0089	0.0088	0.0012	0.0027	0.0069	0	0.0168	0.0078	0.0090	0.0063	0.0005	0.0061	0.0062	0.0062	0.0061	0.0079	0.0058	0.0057	0.0074	0.0072	0.0020	0.0088	0.0066	0.0089	0	0.0143	0.0068	0.0079	0.0076	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.000000	0.999993	0.58761	D	.	.	.	1.98	0.21865	T	-5.3	0.84387	D	0.863	0.85979	-0.9044	0.47515	T	0.135	0.45049	T	10	0.0064267516	0.00146	T	0.01811	0.40062	T	0.360	0.68052	0.412	0.44887	0.134241683229	0.13084	0.8618846767854208	0.86152	.	.	0.557874679565	0.46968	T	0.299903	0.67241	T	-0.140782	0.29765	T	0.0353877	0.72628	D	0.206580402657604	0.20774	T	0.807619	0.45757	T	0.31536904	0.54246	0.2448966	0.49966	0.31536904	0.54246	0.2448966	0.49965	-6.078	0.46927	T	.	.	0.948	0.86730	P	.	.	4.763976	0.77051	26.6	0.99814155303396856	0.89797	0.93471	0.58306	D	AEFI	0.506977	0.53747	D	0.58684859884875	0.72353	5.792355	0.491612550656603	0.67432	5.083384	0.790886323968656	0.24013	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.57	4.57	0.55860	5.996000	0.70309	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	12.915	0.57594	928	0.17405	.	.	.	.	.	.	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	0.04762	5117.11	203	chr10	17796275	.	C	T	5117.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.87;DP=1132;ExcessHet=0.1072;FS=4.056;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=-1.386e+00;SOR=0.876	GT:AD:DP:GQ:PL	0/1:102,99:201:99:2600,0,2621	19	0	2	0
chr10	25412396	25412396	A	G	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon4:c.A1258G:p.I420V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.009	B	0.000	D	0.999	D	-0.255	N	0.18	T	-0.979	T	0.087	T	0.589	0.443	6.407	6.16	2.367	4.708	16.806	0.171	0.00580834291211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399001129	2.053e-06	1.026e-05	2.724e-06	1.376e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.8e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.92	0.02309	T	1.0	0.01155	T	0.008	0.14655	B	0.009	0.14300	B	0.000003	0.62929	D	0.000000	0.999426	0.47006	D	0.6	0.15550	N	0.18	0.60361	T	0.44	0.03243	N	0.27	0.30574	-0.9792	0.35186	T	0.087	0.33662	T	10	0.1521804	0.28750	T	0.005808	0.15101	T	0.171	0.43483	0.448	0.50793	0.161926535498	0.15789	0.3829631867473734	0.38211	0.0840598745579	0.09481	0.538012385368	0.44165	T	0.017669	0.14377	T	-0.0274371	0.47788	T	-0.277188	0.47092	T	0.737176895141602	0.42586	D	0.822218	0.48193	T	0.105158724	0.24861	0.12171046	0.29365	0.105158724	0.24861	0.12171046	0.29364	-5.917	0.45579	T	.	.	0.067	0.04932	B	.;.	.;.	2.077376	0.26423	17.11	0.68464587669978927	0.08666	0.88581	0.48576	D	AEFI	0.384824	0.46580	N	-0.305378770948769	0.28943	1.600737	-0.0121809945739852	0.39164	2.317966	0.184655415091531	0.17919	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	4.720000	0.61636	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.806	0.85530	832	0.38914	.;GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.05	295.79	34	chr10	25412396	.	A	G	295.79	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-3.488e+00;DP=1306;ExcessHet=0.1072;FS=138.745;InbreedingCoeff=-0.0630;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=1.34;ReadPosRankSum=0.106;SOR=9.022	GT:AD:DP:GQ:PL	0/1:66,15:81:20:20,0,1436	18	0	2	1
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I	.	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.04	B	0.014	B	0.000	D	1.000	D	1.485	L	2.86	T	-0.383	T	0.441	T	0.498	0.749	7.970	2.98	0.848	5.444	11.369	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	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	0.09524	228.28	102	chr10	29490860	.	C	T	228.28	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.15;DP=1424;ExcessHet=0.6776;FS=23.683;InbreedingCoeff=-0.0944;MLEAC=3;MLEAF=0.071;MQ=58.34;MQRankSum=-1.102e+01;QD=0.45;ReadPosRankSum=-4.118e+00;SOR=2.883	GT:AD:DP:GQ:PL	0/1:120,12:132:2:2,0,3431	17	0	4	0
chr10	38054930	38054930	C	T	exonic	ZNF33A	.	nonsynonymous SNV	ZNF33A:NM_001278170:exon4:c.C824T:p.P275L	.	.	9	1473	39	1	0	41	0.0137261	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.001	B	0.001	B	0.225	N	1.000	N	0.345	N	3.45	T	-0.950	T	0.002	T	0.118	0.658	7.529	-0.393	0.182	1.534	1.999	0.048	.	0.0035	0.0217652	0.0133	0.0012	0.0035	0.0566	0.0002	0.0045	0.0188	0.0456	0.0122055	1887	154602	rs78340846	0.0086	0.0086	0.0074	0.0097	0.0524	0.0084	0.0084	0.0506	0.0498	0.0008	0.0023	0.0076	0.0524	0.0002	0.0092	0.0048	0.0097	0.0475	0.0065	0.0065	0.0056	0.0074	0.0542	0.0062	0.0060	0.0488	0.0467	0.0013	0.0033	0.0029	0.0055	0.0497	0	0.0034	0.0049	0.0076	0.0542	0.078	0.33923	T	0.081	0.83351	T	0.0	0.02946	B	0.001	0.04355	B	0.225023	0.16049	N	0.462111	1	0.08975	N	0.41	0.12415	N	3.44	0.05375	T	-1.52	0.36980	N	0.262	0.32148	-0.9496	0.41040	T	0.002	0.00526	T	10	0.0029008985	0.00046	T	.	.	.	0.048	0.13305	.	.	.	.	0.19901764050235302	0.19818	0.0329765575475	0.03447	0.223304584622	0.01509	T	0.025939	0.19295	T	-0.691823	0.00041	T	-0.725553	0.04532	T	0.0127520359431619	0.00216	T	0.0432957	0.00347	T	0.037352197	0.04771	0.033255894	0.02190	0.037352197	0.04770	0.033255894	0.02189	-3.84	0.21869	T	.	.	0.087	0.14108	B	.;.;.;.;.	.;.;.;.;.	0.555017	0.09238	6.018	0.66295141590691198	0.08017	0.09166	0.14976	N	AEFGBI	0.049285	0.08497	N	-1.22149415496001	0.04689	0.2121699	-1.29038804668229	0.04559	0.2153426	0.409632238020963	0.20201	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	2.05	-0.393	0.11819	0.505000	0.22352	-2.134000	0.04162	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2601:0.3828:0.0:0.3571	1.999	0.03252	675	0.60470	.;.;.;.;.	.	.	.	.	rs78340846	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	7999.68	39	chr10	38054930	.	C	T	7999.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=3.92;DP=1584;ExcessHet=0.3300;FS=0.522;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-4.960e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:108,77:185:99:2081,0,2589	18	0	3	0
chr10	43200861	43200861	C	T	exonic	RASGEF1A	.	nonsynonymous SNV	RASGEF1A:NM_001282862:exon5:c.G511A:p.A171T	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.91	T	0.0	B	0.003	B	0.137	N	1.000	N	-0.895	N	1.63	T	-0.974	T	0.020	T	0.244	1.768	11.87	-2.48	-0.282	-0.411	6.092	0.056	0.0039685401739	.	.	6.612e-05	0	0	0	0	7.528e-05	0.0011	0.0001	5.17e-05	8	154602	rs772314795	2.258e-05	2.257e-05	1.361e-05	3.163e-05	0.0010	1.61e-05	1.417e-05	0.0005	0.0003	0	0	0	0	0	0.0010	1.439e-05	8.28e-05	6.956e-05	3.942e-05	3.94e-05	5.138e-05	2.69e-05	5.88e-05	1.715e-05	1.129e-05	1.972e-05	1.124e-05	2.412e-05	0	0	0	0	0	0	5.88e-05	0.0005	0	0.296	0.14694	T	0.524	0.10317	T	0.0	0.02946	B	0.003	0.08700	B	0.136774	0.18435	N	0.512135	0.999957	0.19486	N	-0.49	0.02651	N	1.63	0.28002	T	-0.29	0.11728	N	0.06	0.03175	-0.9738	0.36387	T	0.020	0.08546	T	10	0.027406484	0.00887	T	0.003969	0.09400	T	0.056	0.15993	0.372	0.38340	0.229543500084	0.22568	0.2286911901432003	0.22784	0.704991935162	0.61363	0.306520760059	0.11381	T	0.021042	0.16455	T	-0.378045	0.03205	T	-0.578158	0.14709	T	0.0161368085765476	0.00390	T	0.79512	0.43772	T	0.042239457	0.06371	0.045029063	0.05968	0.042239457	0.06371	0.045029063	0.05967	-4.393	0.29462	T	.	.	0.068	0.02670	B	.;.;.	.;.;.	0.580250	0.09485	6.265	0.96684284510163221	0.30711	0.01521	0.05017	N	AEFDBI	0.080820	0.16347	N	-0.77155441306303	0.14055	0.6970715	-0.79715085046718	0.14565	0.7616731	0.99858138914307	0.37247	0.719381	0.83141	0	0.633656	0.55848	0	0.723133	0.82415	0	0.567892	0.33627	0	.	.	5.18	-2.48	0.06052	-0.793000	0.04695	-0.658000	0.07995	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1285:0.1889:0.0:0.6826	6.092	0.19220	851	0.35303	.;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal;Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-terminal|Ras-like guanine nucleotide exchange factor, N-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	1	0	0	0	0.02381	1048.98	39	chr10	43200861	.	C	T	1048.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.479e+00;DP=857;ExcessHet=0.0000;FS=4.947;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.28;ReadPosRankSum=-4.280e-01;SOR=1.168	GT:AD:DP:GQ:PL	0/1:60,42:102:99:1063,0,1686	20	0	1	0
chr10	45752615	45752615	C	A	exonic	WASHC2C	.	nonsynonymous SNV	WASHC2C:NM_001367404:exon10:c.C872A:p.P291H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.645	M	.	.	-0.041	T	0.436	T	0.758	3.703	18.81	3.52	1.957	6.126	12.928	0.592	0.0142577363614	.	0.00119808	0.0005	0	0	0	0.0003	6.034e-05	0.0022	0.0035	0.0002305	6	26028	rs200898572	0.0002	0.0002	9.416e-05	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	3.011e-05	2.237e-05	0	0	0.0001	0	3.151e-05	0.0003	0.0019	9.897e-05	0.0001	6.45e-05	0.0001	0.0029	6.031e-05	4.899e-05	0.0018	0.0014	0	0	0	0	0	0	0.0034	0	0	0.0029	0.001	0.91255	D	0.003	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	.	.	.	.	.	.	-7.29	0.94537	D	0.807	0.80278	-0.0405	0.81407	T	0.436	0.77612	T	9	0.015824288	0.00332	T	0.014258	0.34257	T	0.592	0.83747	0.414	0.45216	0.501308276186	0.49768	0.3712156956301726	0.37035	.	.	0.705606937408	0.67955	T	0.260038	0.63137	T	-0.063534	0.42354	T	0.131346	0.78981	D	0.296265185932059	0.24849	T	0.936706	0.81731	D	0.86050075	0.88124	0.7354769	0.84366	0.86050075	0.88125	0.7354769	0.84367	-13.663	0.92237	D	.	.	0.701	0.72980	P	.;.;.;.;.;.	.;.;.;.;.;.	4.802189	0.78040	26.8	0.99704238719062466	0.80867	0.96971	0.71949	D	AEFI	0.534587	0.55357	D	0.695798100273196	0.79355	7.060631	0.592854769491069	0.74425	6.135092	0.00692606190868397	0.11343	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	3.52	3.52	0.39415	6.358000	0.72997	7.588000	0.61163	0.423000	0.20817	1.000000	0.71638	1.000000	0.68203	0.687000	0.33748	0.0:1.0:0.0:0.0	12.928	0.57668	762	0.50290	.;.;.;.;.;.	.	.	.	.	.	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	0.025	984.33	35	chr10	45752615	.	C	A	984.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.622e+00;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.16;MQRankSum=0.217;QD=11.06;ReadPosRankSum=-5.460e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:46,43:89:99:998,0,1157	19	0	1	1
chr10	45828081	45828081	C	G	splicing	AGAP4	NM_001291379:exon9:c.210-1G>C;NM_001276343:exon7:c.534-1G>C;NM_133446:exon6:c.465-1G>C	.	.	.	.	705	795	11	11	0	33	0.0203327	1.0000	0.672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	-0.466	1.846	1.68	1.246	3.739	6.854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1259220018	0.0090	0.0077	0.0082	0.0097	0.0262	0.0088	0.0087	0.0205	0.0186	0.0012	0.0068	0.0048	9.438e-05	0.0119	0.0262	0.0086	0.0075	0.0201	0.0062	0.0065	0.0062	0.0061	0.0121	0.0058	0.0057	0.0095	0.0086	0.0011	0.0146	0.0075	0.0042	0.0004	0.0112	0.0360	0.0081	0.0073	0.0121	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0721765	0.40978	T	-0.341453	0.40179	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	5.993006	0.94285	34	0.85737994814547802	0.16081	0.86269	0.45516	D	AEFI	.	.	.	0.551673247133502	0.70185	5.464414	0.239839142706968	0.52072	3.384739	4.27802207330989E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.063197	0.01477	0	0.101684	0.03063	0	0.185915	0.29733	1.68	1.68	0.23219	3.803000	0.55264	5.199000	0.47926	0.270000	0.18506	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:1.0:0.0:0.0	6.854	0.23214	751	0.51694	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	390.0	20	chr10	45828081	.	C	G	390.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.72;DP=572;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0259;MLEAC=1;MLEAF=0.024;MQ=25.78;MQRankSum=0.052;QD=12.58;ReadPosRankSum=0.179;SOR=0.474	GT:AD:DP:GQ:PL	0/1:14,17:31:99:404,0,311	20	0	1	0
chr10	47322912	47322912	A	G	exonic	GDF2	.	nonsynonymous SNV	GDF2:NM_016204:exon1:c.A244G:p.R82G,	Telangiectasia, hereditary hemorrhagic, type 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1564875	Telangiectasia,_hereditary_hemorrhagic,_type_5	MONDO:MONDO:0014217,MedGen:C3809710,OMIM:615506,Orphanet:774	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.036e-05	4.036e-05	1.633e-05	6.463e-05	0.0006	3.179e-05	2.91e-05	0.0005	0.0004	0	2.236e-05	0	0	3.745e-05	0	0	6.623e-05	0.0006	3.939e-05	4.593e-05	2.569e-05	5.37e-05	0.0012	1.714e-05	1.129e-05	0.0005	0.0004	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.11	0.64445	T	.	.	.	0.216	0.24135	.	.	.	.	.	.	.	0.20616308	0.36869	T	.	.	.	.	.	.	.	.	.	0.8456197630649454	0.84522	.	.	.	.	.	0.583406	0.86393	D	.	.	.	.	.	.	.	.	.	0.814119	0.46793	T	.	.	.	.	.	.	.	.	-4.331	0.28610	T	0.21863469470521835	0.29446	0.087	0.11220	B	.	.	2.511361	0.32436	19.04	.	.	.	.	.	.	0.412796	0.48273	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.584000	0.45768	1.669000	0.27944	0.756000	0.94297	0.667000	0.28322	0.554000	0.25484	0.996000	0.76049	.	.	.	976	0.04745	TGF-beta, propeptide	.	.	.	.	.	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	0.02381	1787.98	36	chr10	47322912	.	A	G	1787.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.098e+00;DP=872;ExcessHet=0.0000;FS=0.585;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=0.408;SOR=0.643	GT:AD:DP:GQ:PL	0/1:83,78:161:99:1802,0,2104	20	0	1	0
chr10	47368618	47368618	C	T	exonic	ZNF488	.	nonsynonymous SNV	ZNF488:NM_153034:exon2:c.G212A:p.S71N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.016	B	0.013	B	0.128	U	1.000	N	0	N	1.96	T	-1.047	T	0.069	T	0.289	0.858	8.471	1.68	0.031	-0.543	5.122	0.023	0.00220714740904	.	.	.	.	.	.	.	.	.	.	.	.	.	rs558580971	4.389e-05	4.447e-05	1.911e-05	6.891e-05	0.0007	3.518e-05	3.201e-05	0.0005	0.0005	0	2.237e-05	0	0	0	0.0002	0	6.629e-05	0.0007	4.594e-05	4.593e-05	2.569e-05	6.71e-05	0.0012	2.107e-05	1.525e-05	0.0005	0.0004	0	0	0	0	0	0	0	1.47e-05	0	0.0012	.	.	.	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.94	0.22678	T	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.045495868	0.03627	T	.	.	.	.	.	.	.	.	.	0.5038424353490556	0.50306	.	.	.	.	.	0.004718	0.04133	T	.	.	.	.	.	.	.	.	.	0.253275	0.03871	T	.	.	.	.	.	.	.	.	-5.29	0.39844	T	.	.	0.096	0.15475	B	.	.	-0.453878	0.02019	0.180	.	.	.	.	.	.	0.125781	0.24244	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.767000	0.04826	-1.958000	0.04434	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	584.98	39	chr10	47368618	.	C	T	584.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.223;DP=949;ExcessHet=0.0000;FS=0.978;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.00;ReadPosRankSum=-1.149e+00;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,24:65:99:0|1:47368615_G_A:599,0,1123:47368615	20	0	1	0
chr10	49461370	49461370	C	A	exonic	ERCC6	.	nonsynonymous SNV	ERCC6:NM_000124:exon19:c.G3965T:p.G1322V	Cerebrooculofacioskeletal syndrome 1, Autosomal recessive;Cockayne syndrome, type B, Autosomal recessive;De Sanctis-Cacchione syndrome, Autosomal recessive;Premature ovarian failure 11, Autosomal dominant;UV-sensitive syndrome 1, Autosomal recessive	.	12	1508	2	0	0	2	0.000662691	.	.	315545	not_provided|Age_related_macular_degeneration_5|Cerebrooculofacioskeletal_syndrome_1|Cockayne_syndrome_type_2	MedGen:C3661900|MONDO:MONDO:0013409,MedGen:C3151063,OMIM:613761|MONDO:MONDO:0008955,MedGen:C0220722,OMIM:214150|MONDO:MONDO:0019570,MedGen:C0751038,OMIM:133540,Orphanet:191,Orphanet:90322	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.952	D	.	.	1.000	D	3.155	M	-2.43	D	0.959	D	0.869	D	0.865	4.853	27.7	4.98	2.464	4.717	15.776	0.700	.	.	0.00778754	0.0036	0.0002	8.67e-05	0	0	3.004e-05	0.0033	0.0260	0.0032212	498	154602	rs4253219	0.0014	0.0014	0.0008	0.0020	0.0220	0.0014	0.0013	0.0212	0.0209	5.978e-05	2.236e-05	0	7.557e-05	0	0.0008	4.317e-05	0.0016	0.0220	0.0008	0.0008	0.0004	0.0012	0.0245	0.0007	0.0007	0.0209	0.0195	0.0002	0	6.536e-05	0	0	0	0	2.94e-05	0	0.0245	0.004	0.65419	D	0.026	0.55759	D	0.997	0.70673	D	0.946	0.68276	D	.	.	.	.	1	0.81001	D	2.19	0.61577	M	-2.71	0.90566	D	-4.57	0.78721	D	0.718	0.72031	0.959	0.96532	D	0.869	0.95634	D	9	0.007578075	0.00172	T	.	.	.	0.700	0.89192	0.276	0.22845	0.90946144318	0.90855	0.48409570835901516	0.48329	0.215568380952	0.24085	0.453970432281	0.32487	T	0.504407	0.82350	D	0.0354559	0.56447	T	0.295739	0.88002	D	0.11283294705982	0.13715	T	0.809419	0.45992	T	0.43343338	0.62976	0.337986	0.59582	0.43343338	0.62977	0.337986	0.59581	-2.913	0.09274	T	.	.	0.226	0.45774	B	.	.	4.378322	0.67463	25.1	0.99735534996143227	0.83119	0.98961	0.89215	D	AEFBI	0.504570	0.53608	D	0.675244029376852	0.78010	6.786237	0.550666997114922	0.71445	5.655748	0.992266645553154	0.32778	0.706548	0.73137	0	0.546412	0.12157	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	5.028000	0.63895	5.393000	0.48489	0.599000	0.40250	1.000000	0.71638	0.990000	0.31317	0.993000	0.69303	0.0:1.0:0.0:0.0	15.776	0.77995	823	0.40596	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	444.98	34	chr10	49461370	.	C	A	444.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.962;DP=714;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=1.19;SOR=0.486	GT:AD:DP:GQ:PL	0/1:17,17:34:99:459,0,438	20	0	1	0
chr10	52251583	52251583	G	C	exonic	PRKG1	.	nonsynonymous SNV	PRKG1:NM_001098512:exon10:c.G1045C:p.A349P	Aortic aneurysm, familial thoracic 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.167	B	0.077	B	0.000	D	1.000	D	0	N	-0.32	T	-0.933	T	0.162	T	0.522	2.592	14.63	6.14	2.927	7.177	20.414	0.159	0.0119708549921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.023e-05	0.0003	3.282e-05	2.761e-05	3.525e-05	2.291e-05	2.041e-05	2.639e-05	2.317e-05	3.003e-05	0	0	0	0	0	3.525e-05	1.662e-05	3.484e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285	0.15251	T	0.288	0.21144	T	0.167	0.28604	B	0.058	0.28532	B	0.000011	0.62929	D	0.114641	0.999121	0.81001	D	0	0.06538	N	-0.33	0.68329	T	-0.83	0.22727	N	0.414	0.47208	-0.9328	0.43725	T	0.162	0.49831	T	10	0.30753535	0.48255	T	0.011971	0.30115	T	0.159	0.41286	0.321	0.30064	0.324576393752	0.32066	0.9524779227595346	0.95231	0.819110548624	0.67075	0.782701611519	0.79336	T	0.263933	0.63566	T	0.017917	0.54100	T	-0.21204	0.53501	T	0.907704830169678	0.56207	D	0.955504	0.83071	D	0.87653315	0.89385	0.6861728	0.81546	0.87653315	0.89386	0.6861728	0.81547	-7.179	0.55330	T	0.10410051706711128	0.08104	0.857	0.80167	P	.;.;.;.	.;.;.;.	4.002256	0.58976	24.0	0.98901116092730812	0.48181	0.97233	0.73478	D	AEFBI	0.923468	0.89999	D	0.0294236492756106	0.43196	2.617364	0.291304482441213	0.55029	3.666609	0.999999975426614	0.74766	0.693126	0.56070	0	0.547309	0.14657	0	0.659464	0.59346	0	0.620846	0.47308	0	.	.	6.14	6.14	0.99173	7.252000	0.77731	11.902000	0.99384	0.659000	0.54702	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.414	0.99027	870	0.31527	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	90.11	49	chr10	52251583	.	G	C	90.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.860e+00;DP=1271;ExcessHet=0.1072;FS=269.272;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=1.31;SOR=9.898	GT:AD:DP:GQ:PL	0/1:84,30:114:88:88,0,1957	19	0	2	0
chr10	59252836	59252836	G	A	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001001971:exon10:c.C1201T:p.P401S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.837	P	0.547	P	0.012	N	1.000	N	1.87	L	1.13	T	-1.014	T	0.098	T	0.135	0.100	4.537	3.83	0.857	2.979	4.816	0.073	0.0093158097136	0.0005	0.000599042	0.0002	0.0024	0	0	0	2.998e-05	0	6.058e-05	0.0002005	31	154602	rs147212027	6.978e-05	6.977e-05	7.76e-05	6.188e-05	0.0022	5.847e-05	5.457e-05	0.0018	0.0016	0.0022	0	0	0	0	0.0002	1.079e-05	0.0002	2.319e-05	0.0007	0.0007	0.0008	0.0007	0.0026	0.0006	0.0006	0.0022	0.0020	0.0026	0	0.0003	0	0	0	0	1.47e-05	0.0005	0	0.701	0.13045	T	1.0	0.13441	T	0.532	0.46346	P	0.329	0.49095	B	0.012125	0.29280	N	0.330706	0.949369	0.26539	N	1.265	0.31966	L	1.1	0.39050	T	-1.28	0.32791	N	0.088	0.11054	-1.0137	0.25752	T	0.098	0.36728	T	10	0.00943324	0.00213	T	0.009316	0.24459	T	0.073	0.21317	.	.	0.521601224155	0.51804	0.3841649849249863	0.38331	.	.	0.434346497059	0.29803	T	0.00226	0.01662	T	-0.542829	0.00322	T	-0.55744	0.16618	T	0.0913630694930619	0.11379	T	0.872113	0.58483	D	0.0599291	0.12238	0.0726773	0.15708	0.0599291	0.12237	0.0726773	0.15708	-5.347	0.44382	T	.	.	0.087	0.11172	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.766537	0.36298	20.2	0.47604819320239428	0.03905	0.78740	0.38894	D	AEFBHCI	0.343024	0.43898	N	-0.0952448879789972	0.37601	2.189911	0.0106342874969169	0.40207	2.395921	6.68389668025077E-4	0.07575	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.72	3.83	0.43287	3.201000	0.50761	4.478000	0.43523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0762:0.2569:0.5172:0.1497	4.816	0.12733	982	0.03397	.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1967.98	33	chr10	59252836	.	G	A	1967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.60;DP=845;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.490e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/1:64,79:143:99:1982,0,1446	20	0	1	0
chr10	59268689	59268689	G	A	exonic	FAM13C	.	nonsynonymous SNV	FAM13C:NM_001001971:exon8:c.C806T:p.P269L	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.996	D	0.736	P	0.000	N	1.000	D	1.195	L	0.9	T	-0.432	T	0.416	T	0.611	2.563	14.53	6.04	2.876	3.913	20.589	0.223	0.0529523267627	0.0005	0.000599042	0.0004	0.0026	0.0002	0.0006	0	9.203e-05	0	0.0002	0.0003363	52	154602	rs138913406	0.0002	0.0002	0.0002	0.0002	0.0029	0.0002	0.0002	0.0025	0.0023	0.0029	4.486e-05	3.832e-05	0.0007	5.624e-05	0.0002	9.448e-05	0.0003	4.65e-05	0.0010	0.0010	0.0010	0.0010	0.0032	0.0008	0.0008	0.0027	0.0026	0.0032	0	0.0003	0	0.0008	0	0	5.88e-05	0.0005	0	0.226	0.35165	T	0.305	0.30631	T	0.347	0.68779	B	0.083	0.55529	B	0.000133	0.49741	N	0.142017	1	0.81001	D	2.095	0.58118	M	-0.96	0.75553	T	-2.42	0.66325	N	0.198	0.25377	-0.4321	0.70998	T	0.416	0.76258	T	10	0.0141121745	0.00297	T	0.052952	0.65277	D	0.223	0.52023	.	.	0.889652634573	0.88856	0.27321041069273455	0.27234	.	.	0.627196073532	0.56747	T	0.013395	0.11594	T	-0.266275	0.12175	T	-0.157683	0.58559	T	0.0410192205082373	0.03876	T	0.890411	0.62952	D	0.114339165	0.26994	0.15807271	0.36931	0.114339165	0.26994	0.15807271	0.36930	-6.617	0.58262	T	.	.	0.170	0.44910	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.190370	0.43345	21.7	0.95493051256339923	0.27072	0.96900	0.71553	D	AEFBI	0.793428	0.72143	D	0.132628283532413	0.47991	3.017172	0.264161393733811	0.53458	3.514739	0.999999662037672	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.04	6.04	0.98025	2.538000	0.45369	8.503000	0.77365	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.199000	0.21867	0.0:0.0:1.0:0.0	20.589	0.99430	982	0.03397	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1125.98	35	chr10	59268689	.	G	A	1125.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.100e-02;DP=781;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.22;ReadPosRankSum=-6.610e-01;SOR=0.717	GT:AD:DP:GQ:PL	0/1:30,44:74:99:1140,0,747	20	0	1	0
chr10	77636494	77636494	C	G	exonic	KCNMA1	.	nonsynonymous SNV	KCNMA1:NM_001271522:exon2:c.G400C:p.E134Q,	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	.	8	1487	27	0	0	27	0.008997	.	.	1203578	KCNMA1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0155751	0.0082	0.0278	0.0056	0.03	0	0.0031	0.0152	0.0087	0.0019857	307	154602	rs139968359	0.0036	0.0034	0.0035	0.0038	0.0396	0.0035	0.0035	0.0379	0.0372	0.0265	0.0045	0.0018	0.0396	0.0015	0.0241	0.0011	0.0080	0.0090	0.0100	0.0100	0.0096	0.0105	0.0339	0.0096	0.0095	0.0298	0.0283	0.0263	0	0.0056	0.0017	0.0339	0.0009	0.0136	0.0014	0.0099	0.0091	.	.	.	0.136	0.34009	T	0.009	0.15093	B	0.005	0.11217	B	.	.	.	.	0.940241	0.37290	D	.	.	.	0.91	0.44856	T	.	.	.	0.07	0.04307	.	.	.	.	.	.	.	0.0028169155	0.00045	T	.	.	.	.	.	.	.	0.256237801699	0.25221	.	.	.	.	.	.	.	.	.	.	-0.54693	0.00304	T	-0.534028	0.18886	T	.	.	.	0.267173	0.04416	T	.	.	.	.	.	.	.	.	-3.381	0.14802	T	.	.	0.069	0.03266	B	.	.	2.102541	0.26750	17.23	0.84239989849224417	0.15176	0.26826	0.23104	N	AEFDGBCI	0.098973	0.19933	N	.	.	.	.	.	.	0.999992919501286	0.74766	0.228283	0.04149	0	0.429362	0.06391	1	0.217501	0.04623	0	0.211572	0.04316	2	.	.	3.95	2.04	0.25787	0.670000	0.24838	2.682000	0.34024	0.599000	0.40250	0.373000	0.25949	0.994000	0.32194	0.082000	0.17360	0.0:0.6676:0.2179:0.1145	5.369	0.15433	746	0.52331	.	.	.	.	.	.	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	0.02381	1536.98	33	chr10	77636494	.	C	G	1536.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=821;ExcessHet=0.0000;FS=2.426;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-3.260e-01;SOR=0.492	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1551,0,1491	20	0	1	0
chr10	77637505	77637505	-	GAG	exonic	KCNMA1	.	nonframeshift insertion	KCNMA1:NM_001014797:exon1:c.137_138insCTC:p.S60_V61insS	Generalized epilepsy and paroxysmal dyskinesia, Autosomal dominant	.	0	221	5	0	0	5	0.0111857	.	.	177785	not_specified|KCNMA1-related_disorder|Generalized_epilepsy-paroxysmal_dyskinesia_syndrome|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012276,MedGen:C5574945,OMIM:609446,Orphanet:79137|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0033	0.00838658	0.0031	0.0006	0.0005	0.0167	0.0023	0.0031	0.0047	0.0010	0.0006147	16	26028	rs572827902	0.0036	0.0038	0.0036	0.0037	0.0359	0.0036	0.0035	0.0343	0.0337	0.0016	0.0019	0.0091	0.0359	0.0065	0.0212	0.0024	0.0053	0.0011	0.0046	0.0046	0.0044	0.0048	0.0313	0.0043	0.0042	0.0273	0.0258	0.0009	0	0.0030	0.0095	0.0313	0.0059	0.0137	0.0050	0.0072	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1237.94	39	chr10	77637505	.	A	AGAG	1237.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.399e+00;DP=788;ExcessHet=0.0000;FS=6.350;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=-1.502e+00;SOR=0.607	GT:AD:DP:GQ:PL	0/1:36,33:69:99:1252,0,1379	20	0	1	0
chr10	79711841	79711841	C	G	exonic	NUTM2B	.	nonsynonymous SNV	NUTM2B:NM_001278495:exon7:c.C1993G:p.Q665E,	.	.	421	1077	20	4	0	28	0.0128323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.97	T	.	.	.	.	0.009	N	1.000	N	.	.	2.78	T	-0.981	T	0.011	T	0.073	-2.625	0	0.451	0.225	-0.161	3.959	0.043	0.00107540885294	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1317635955	0.0004	0.0024	0.0003	0.0004	0.0014	0.0003	0.0003	0.0012	0.0011	0.0008	0.0003	0.0002	0.0010	0.0039	0	8.914e-05	0.0004	0.0014	0.0003	0.0034	0.0002	0.0004	0.0006	0.0002	0.0002	0.0004	0.0003	0.0006	0	7.079e-05	0	0.0005	0.0004	0	0.0002	0	0.0005	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.009328	0.01237	N	2.813430	1	0.08975	N	.	.	.	2.78	0.11298	T	-0.56	0.17003	N	0.052	0.02366	-0.9814	0.34678	T	0.011	0.03996	T	7	0.04182014	0.02872	T	0.001075	0.01239	T	0.043	0.11576	.	.	0.082315109003	0.07666	0.04515098052657296	0.04459	.	.	.	.	.	0.002869	0.02268	T	-0.388094	0.02767	T	-0.795246	0.02024	T	0.0222420028078043	0.00936	T	0.432757	0.11777	T	0.04766708	0.08184	0.03812953	0.03616	0.04766708	0.08184	0.03812953	0.03616	-2.745	0.07689	T	.	.	0.073	0.04599	B	.	.	-0.289777	0.02662	0.341	0.10184918605024793	0.00122	0.01337	0.04602	N	AEFI	0.035045	0.04446	N	-0.875582201295554	0.11426	0.5512962	-1.07425620614281	0.08209	0.4026423	1.15030611857549E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.38	0.451	0.15841	-0.221000	0.09208	-1.989000	0.04383	0.412000	0.20661	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.7692:0.0:0.2308	3.959	0.08896	814	0.42100	Nuclear Testis  protein, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	84.98	38	chr10	79711841	.	C	G	84.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.417;DP=1205;ExcessHet=0.0000;FS=7.467;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=34.91;MQRankSum=-1.451e+00;QD=3.86;ReadPosRankSum=0.767;SOR=2.712	GT:AD:DP:GQ:PL	0/1:17,5:22:99:99,0,482	20	0	1	0
chr10	92948278	92948278	A	G	exonic	EXOC6	.	nonsynonymous SNV	EXOC6:NM_001319200:exon10:c.A1006G:p.I336V	.	.	441	1068	13	0	0	13	0.00604933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.736	P	0.272	B	0.000	D	1.000	D	2.235	M	1.57	T	-0.992	T	0.102	T	0.328	2.863	15.54	5.97	2.288	7.121	16.450	0.086	0.0107221954924	7.7e-05	0.00119808	0.0010	0	0.0003	0	0	0.0002	0	0.0061	0.0008279	128	154602	rs374378240	0.0006	0.0006	0.0004	0.0007	0.0064	0.0005	0.0005	0.0059	0.0057	0	4.66e-05	0	2.546e-05	0	0.0012	0.0002	0.0007	0.0064	0.0003	0.0003	0.0002	0.0003	0.0054	0.0002	0.0002	0.0038	0.0032	2.407e-05	0	0.0001	0	0	0	0.0034	0.0001	0	0.0054	0.095	0.33753	T	0.139	0.33780	T	0.589	0.39027	P	0.145	0.35644	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	1.57	0.29342	T	-0.77	0.21429	N	0.359	0.40465	-0.9915	0.32218	T	0.102	0.37768	T	10	0.008866757	0.00201	T	0.010722	0.27578	T	0.086	0.25016	.	.	0.472181857204	0.46848	0.4286992985282923	0.42786	0.261388961948	0.28688	0.484101235867	0.36622	T	0.203135	0.56152	T	-0.418407	0.01751	T	-0.372146	0.36637	T	0.0963046064575868	0.11945	T	0.877312	0.61581	D	0.15444303	0.34956	0.14967111	0.35330	0.15444303	0.34955	0.14967111	0.35329	-2.811	0.08285	T	.	.	0.117	0.38062	B	.;.;.	.;.;.	3.656199	0.51914	23.2	0.99731343449587162	0.82761	0.98359	0.81978	D	AEFBI	0.819122	0.74021	D	0.405504452846476	0.61724	4.377466	0.511815987788685	0.68785	5.268093	0.898217046176893	0.26020	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.97	5.97	0.96935	7.104000	0.76667	9.319000	0.80028	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	16.450	0.83825	827	0.39843	.;.;.	.	.	.	.	.	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	0.02381	558.98	30	chr10	92948278	.	A	G	558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.930e-01;DP=685;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=-1.147e+00;SOR=0.784	GT:AD:DP:GQ:PL	0/1:18,26:44:99:573,0,380	20	0	1	0
chr10	97371008	97371008	C	T	exonic	RRP12	.	nonsynonymous SNV	RRP12:NM_001284337:exon18:c.G2117A:p.G706E	.	.	427	1091	4	0	0	4	0.00182983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.684	P	0.376	B	0.000	D	1.000	N	1.355	L	-0.3	T	-0.869	T	0.201	T	0.447	1.041	9.252	2.14	0.148	0.510	15.154	0.196	0.0493195505805	7.7e-05	0.000399361	0.0002	0	0	0	0	3.067e-05	0.0034	0.0011	0.0001617	25	154602	rs377396525	9.988e-05	9.987e-05	6.398e-05	0.0001	0.0010	8.646e-05	8.135e-05	0.0008	0.0008	0	2.236e-05	3.827e-05	2.519e-05	0	0.0002	4.137e-05	0.0002	0.0010	6.57e-05	7.218e-05	3.857e-05	9.405e-05	0.0006	3.516e-05	2.616e-05	0.0002	8.996e-05	0	0	0.0001	0	0.0002	0	0	1.47e-05	0.0014	0.0006	0.025	0.47320	D	0.031	0.54934	D	0.549	0.38101	P	0.209	0.37260	B	0.000240	0.47286	D	0.247568	1	0.08975	N	1.935	0.51832	L	-0.3	0.67874	T	-1.23	0.31170	N	0.256	0.28965	-0.8693	0.50582	T	0.201	0.55723	T	10	0.014602512	0.00307	T	0.04932	0.63763	D	0.196	0.47777	.	.	0.432716982437	0.42889	0.5369901277932718	0.53624	0.223476937198	0.24875	0.381730318069	0.22502	T	0.018127	0.14670	T	-0.337871	0.05537	T	-0.308545	0.43815	T	0.0562625926651113	0.06567	T	0.859214	0.55036	D	0.08761561	0.20410	0.1579018	0.36900	0.08761561	0.20409	0.1579018	0.36899	-10.338	0.75910	D	.	.	0.257	0.52010	B	.;.;.;.	.;.;.;.	2.179283	0.27780	17.58	0.9470505738578856	0.25362	0.19774	0.20790	N	AEFDBCI	0.098384	0.19827	N	-0.980928158929782	0.09011	0.424766	-1.01572163296685	0.09440	0.4696304	0.99221408916734	0.32759	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	2.14	0.26518	0.568000	0.23326	2.752000	0.34542	-0.217000	0.08171	0.000000	0.06391	0.678000	0.26104	0.751000	0.35822	0.0:0.6027:0.3973:0.0	15.154	0.72407	427	0.81056	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1037.98	36	chr10	97371008	.	C	T	1037.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.481;DP=863;ExcessHet=0.0000;FS=4.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.36;ReadPosRankSum=-5.640e-01;SOR=0.338	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1052,0,1138	20	0	1	0
chr10	97641067	97641067	G	C	exonic	PI4K2A	.	nonsynonymous SNV	PI4K2A:NM_018425:exon1:c.G325C:p.E109Q,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.002	B	0.006	B	0.000	D	1.000	D	1.04	L	.	.	-0.977	T	0.165	T	0.18	0.373	6.024	2.62	0.206	6.006	15.626	0.147	0.486928876565	.	.	7.498e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs775524546	2.748e-05	2.736e-05	8.207e-06	4.694e-05	0.0005	2.072e-05	1.824e-05	0.0003	0.0003	0	0	0	0	0	0	0	0	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.33	0.18560	T	0.002	0.09854	B	0.006	0.12133	B	0.000000	0.84330	D	0.000000	0.998343	0.81001	D	1.35	0.33515	L	.	.	.	-1.13	0.29114	N	0.134	0.13055	-0.9769	0.35705	T	0.165	0.50307	T	9	0.12840497	0.24427	T	0.486929	0.94935	D	0.147	0.38986	0.276	0.22845	0.382607109125	0.37878	0.5895355065880216	0.58883	1.09498715062	0.77549	0.716350018978	0.69514	T	0.097457	0.40029	T	-0.348892	0.04798	T	-0.393997	0.34085	T	0.0570807539983236	0.06702	T	0.953705	0.82322	D	0.290593	0.52047	0.18324864	0.41303	0.290593	0.52047	0.18324864	0.41302	-5.728	0.43942	T	.	.	0.101	0.17615	B	.	.	2.600963	0.33759	19.43	0.69759115354959722	0.09076	0.69917	0.34379	D	ALL	0.455576	0.50780	N	-1.04653702988301	0.07655	0.3563722	-0.974482713802981	0.10361	0.5213108	0.999998862325583	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	3.53	2.62	0.30337	6.341000	0.72926	9.369000	0.80433	-0.309000	0.06099	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.1412:0.8588:0.0	15.626	0.76605	444	0.79803	.	.	.	.	.	.	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	0.02381	501.98	33	chr10	97641067	.	G	C	501.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.198;DP=747;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-2.250e+00;SOR=0.430	GT:AD:DP:GQ:PL	0/1:18,19:37:99:516,0,485	20	0	1	0
chr10	99797306	99797306	G	A	exonic	ABCC2	.	nonsynonymous SNV	ABCC2:NM_000392:exon7:c.G842A:p.S281N,	Dubin-Johnson syndrome, Autosomal recessive	.	0	1483	38	1	0	40	0.0133067	.	.	195580	Dubin-Johnson_syndrome|not_specified|not_provided	MONDO:MONDO:0009380,MedGen:C0022350,OMIM:237500,Orphanet:234|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.67	T	0.883	P	0.4	B	0.000	D	0.960	N	2.17	M	0.77	T	-0.820	T	0.109	T	0.175	2.595	14.64	5.61	2.635	3.204	15.121	0.112	.	0.0052	0.00399361	0.0066	0.0024	0.0053	0.0001	0.0088	0.0092	0.0093	0.0020	0.005595	865	154602	rs56131651	0.0068	0.0069	0.0070	0.0067	0.0111	0.0067	0.0067	0.0089	0.0081	0.0016	0.0053	0.0091	2.523e-05	0.0067	0.0111	0.0076	0.0065	0.0023	0.0054	0.0054	0.0053	0.0055	0.0074	0.0051	0.0050	0.0069	0.0067	0.0016	0.0099	0.0064	0.0081	0.0004	0.0073	0.0068	0.0074	0.0095	0.0027	0.142	0.25457	T	0.281	0.21612	T	0.883	0.48537	P	0.4	0.44481	B	0.000134	0.49741	D	0.134180	0.960121	0.38163	D	0	0.06538	N	0.77	0.49642	T	-0.51	0.15986	N	0.306	0.34552	-0.8202	0.53921	T	0.109	0.39509	T	10	0.0060174763	0.00135	T	.	.	.	0.112	0.31546	.	.	0.724806583605	0.72237	0.3081425537827062	0.30727	0.15302378806	0.17264	0.481644958258	0.36283	T	0.060603	0.31430	T	-0.515271	0.00468	T	-0.5078	0.21541	T	0.02477180599758	0.01243	T	0.721628	0.33490	T	0.11233808	0.26539	0.13723007	0.32808	0.1276766	0.29870	0.13723007	0.32807	-3.653	0.18627	T	.	.	0.194	0.41526	B	.;.	.;.	3.853465	0.55833	23.7	0.98265279446445175	0.39703	0.88793	0.48893	D	AEFBCI	0.679332	0.64339	D	0.349949557232264	0.58738	4.047859	0.412236943043777	0.62325	4.446194	0.999999982469538	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.61	5.61	0.85347	3.271000	0.51311	11.807000	0.96822	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.866000	0.41154	0.0:0.0:1.0:0.0	15.121	0.72117	810	0.42761	.;.	.	.	.	.	.	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	0.04762	1692.11	36	chr10	99797306	.	G	A	1692.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.100e+00;DP=820;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.28;ReadPosRankSum=2.30;SOR=0.744	GT:AD:DP:GQ:PL	0/1:50,35:85:99:844,0,1429	19	0	2	0
chr10	101035609	101035609	A	T	exonic	SFXN3	.	nonsynonymous SNV	SFXN3:NM_030971:exon4:c.A286T:p.M96L,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.78	P	0.531	P	0.000	D	1.000	D	2.75	M	1.0	T	-0.593	T	0.205	T	0.842	4.368	23.0	5.11	2.142	9.131	15.066	0.523	0.0229838750796	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.015	0.61642	D	.	.	.	.	.	.	0.000000	0.84330	D	0.071266	1	0.81001	D	.	.	.	1.0	0.41392	T	-2.9	0.60827	D	0.827	0.82257	-0.5933	0.65089	T	0.205	0.56348	T	10	0.96328235	0.95766	D	0.022984	0.45924	T	0.523	0.79765	0.946	0.99325	0.354396617058	0.35051	0.8802692419015231	0.87994	0.432362513328	0.43413	0.733068943024	0.71955	T	.	.	.	0.208459	0.74684	D	0.0616601	0.74355	D	0.961322559126622	0.66051	D	0.998893	0.99421	D	0.6315151	0.74379	0.64145	0.79050	0.6315151	0.74381	0.64145	0.79051	-10.157	0.74846	D	.	.	0.782	0.77153	P	.;.	.;.	4.150356	0.62247	24.4	0.97274843194834992	0.33153	0.99274	0.93794	D	AEFBI	0.943276	0.94890	D	0.608669998742606	0.73724	6.012858	0.63222137176013	0.77293	6.651419	0.99999999999878	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.687403	0.62504	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	9.318000	0.95450	11.225000	0.89902	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.066	0.71667	657	0.62240	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2148.98	35	chr10	101035609	.	A	T	2148.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=848;ExcessHet=0.0000;FS=1.353;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.35;ReadPosRankSum=1.64;SOR=0.682	GT:AD:DP:GQ:PL	0/1:59,81:140:99:2163,0,1473	20	0	1	0
chr10	113595642	113595642	T	C	exonic	NRAP	.	nonsynonymous SNV	NRAP:NM_001322945:exon37:c.A4409G:p.N1470S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.995	D	0.000	D	0.999	D	2.96	M	0.54	T	-0.367	T	0.372	T	0.237	4.522	24.4	5.93	2.281	7.053	14.624	0.358	0.040314680899	.	.	4.945e-05	9.61e-05	0	0	0	0	0.0011	0.0002	3.88e-05	6	154602	rs753774370	2.808e-05	2.805e-05	2.454e-05	3.165e-05	0.0003	2.089e-05	1.88e-05	0.0002	0.0002	2.99e-05	0	0	0	0	0.0002	1.261e-05	1.657e-05	0.0003	0	6.562e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.003	0.68238	D	0.073	0.43344	T	0.569	0.39993	P	0.327	0.46291	B	0.000000	0.84330	D	0.000000	0.999297	0.46578	D	3.5	0.92762	M	0.54	0.54911	T	-3.97	0.73684	D	0.911	0.91276	-0.3673	0.73043	T	0.372	0.73068	T	10	0.79510415	0.78999	D	0.040315	0.59308	D	0.358	0.67872	0.499	0.58991	0.773995652681	0.77192	0.7673044959976278	0.76679	0.385102580598	0.39804	0.553572773933	0.46362	T	0.285355	0.65814	T	-0.258767	0.13044	T	-0.317328	0.42866	T	0.974019885063171	0.70332	D	0.947905	0.80130	D	0.4568599	0.64475	0.44642425	0.67757	0.4568599	0.64476	0.44642425	0.67757	-6.986	0.53932	T	.	.	0.267	0.50618	B	.;.;.;.	.;.;.;.	3.757673	0.53903	23.4	0.99872167903657638	0.94989	0.98337	0.81764	D	AEFDBI	0.884018	0.81337	D	0.567372814407197	0.71144	5.606761	0.608397782619041	0.75549	6.33019	0.99998238762384	0.51787	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.93	5.93	0.95888	7.087000	0.76559	7.856000	0.71202	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:0.0:1.0	14.624	0.68208	919	0.19497	.;.;.;.	.	.	.	.	.	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	0.02381	1123.98	39	chr10	113595642	.	T	C	1123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=818;ExcessHet=0.0000;FS=2.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=1.84;SOR=0.762	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1138,0,855	20	0	1	0
chr10	114331870	114331870	T	C	exonic	AFAP1L2	.	nonsynonymous SNV	AFAP1L2:NM_001001936:exon4:c.A248G:p.N83S	.	.	420	1059	41	2	0	45	0.0208044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	1.0	D	0.998	D	0.000	D	0.999	D	1.78	L	2.49	T	-0.993	T	0.114	T	0.091	2.448	14.14	5.54	2.103	5.373	12.068	0.136	.	0.0053	0.00419329	0.0090	0.0023	0.0063	0	0.0294	0.0132	0.0192	0.0048	0.0031565	488	154602	rs117043677	0.0088	0.0082	0.0088	0.0087	0.0176	0.0086	0.0086	0.0146	0.0134	0.0021	0.0045	0.0056	7.213e-05	0.0030	0.0176	0.0099	0.0066	0.0021	0.0064	0.0064	0.0065	0.0062	0.0100	0.0060	0.0059	0.0094	0.0091	0.0017	0.0143	0.0086	0.0046	0	0.0026	0.0238	0.0100	0.0066	0.0017	0.059	0.38863	T	0.227	0.29056	T	0.997	0.73220	D	0.907	0.69900	P	0.000000	0.84330	D	0.000000	0.897706	0.45546	D	1.97	0.53315	M	2.49	0.31731	T	-2.34	0.59389	N	0.435	0.47395	-0.9934	0.31722	T	0.114	0.40627	T	10	0.00788334	0.00179	T	.	.	.	0.136	0.36778	.	.	0.669146814614	0.66635	0.17211749457620923	0.17131	0.55852647441	0.52429	0.340973377228	0.16584	T	0.046384	0.27407	T	-0.558505	0.00259	T	-0.562056	0.16183	T	0.0378108095653916	0.03299	T	0.908009	0.67517	D	0.12749922	0.29834	0.14220662	0.33838	0.12749922	0.29833	0.14220662	0.33837	-3.628	0.18263	T	.	.	0.077	0.07318	B	.;.;.	.;.;.	3.368263	0.46533	22.3	0.99761281516818268	0.85091	0.93304	0.57859	D	AEFBI	0.670598	0.63763	D	0.496838579485369	0.66906	5.011049	0.46006540659986	0.65365	4.814691	0.999933972118583	0.46732	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.54	5.54	0.82907	4.974000	0.63486	6.142000	0.54067	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.287000	0.24188	0.0:0.0:0.0:1.0	12.068	0.52897	914	0.21048	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	824.98	37	chr10	114331870	.	T	C	824.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=889;ExcessHet=0.0000;FS=10.470;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.71;ReadPosRankSum=0.090;SOR=2.120	GT:AD:DP:GQ:PL	0/1:49,28:77:99:839,0,1521	20	0	1	0
chr10	119827217	119827217	G	A	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_001243194:exon6:c.G1006A:p.V336I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.001	B	0.001	B	0.066	N	1.000	N	-0.69	N	1.2	T	-1.027	T	0.027	T	0.018	-1.874	0.008	-2.19	0.165	1.289	2.470	0.032	0.00295309655747	.	.	1.648e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs780648966	1.915e-05	1.984e-05	1.906e-05	1.925e-05	0.0003	1.328e-05	1.144e-05	6.094e-05	2.522e-05	8.961e-05	2.236e-05	0	0	1.875e-05	0.0003	1.888e-05	0	0	5.258e-05	5.254e-05	8.993e-05	1.346e-05	0.0002	2.558e-05	1.831e-05	6.285e-05	4.301e-05	0.0001	0	0	0	0	0	0	1.47e-05	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.0	0.01387	B	0.065670	0.21864	N	0.517808	1	0.08975	N	-1.06	0.01056	N	1.2	0.42502	T	0.02	0.06739	N	0.026	0.00527	-1.0267	0.21527	T	0.027	0.11707	T	10	0.021770805	0.00528	T	0.002953	0.06280	T	0.032	0.07718	0.18	0.08751	0.0551355673512	0.04727	0.09803205582843473	0.09734	0.101771959714	0.11512	0.272640764713	0.06487	T	0.085119	0.37431	T	-0.567694	0.00228	T	-0.773795	0.02646	T	0.0169519523255341	0.00446	T	0.582942	0.21167	T	0.02437035	0.01261	0.020463783	0.00138	0.02437035	0.01261	0.020463783	0.00137	-2.361	0.08406	T	.	.	0.060	0.01534	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.503176	0.08720	5.496	0.63230340608475766	0.07169	0.08204	0.14162	N	AEFDGBCI	0.048630	0.08319	N	-1.32520682690599	0.03389	0.1513066	-1.27090406104342	0.04829	0.2287179	0.995363952253946	0.34087	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.92	-2.19	0.06621	1.317000	0.33237	0.644000	0.20348	-0.063000	0.16611	0.021000	0.19753	0.002000	0.18203	0.607000	0.31564	0.2706:0.1552:0.4238:0.1504	2.470	0.04282	557	0.71576	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2204.98	34	chr10	119827217	.	G	A	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=808;ExcessHet=0.0000;FS=2.417;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.22;ReadPosRankSum=0.724;SOR=0.468	GT:AD:DP:GQ:PL	0/1:46,75:121:99:2219,0,1188	20	0	1	0
chr10	124021238	124021238	G	-	exonic	CHST15	.	frameshift deletion	CHST15:NM_001270765:exon6:c.1365delC:p.R456Vfs*28	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,8,103,0:112:99:.:.:4502,3921,3773,343,123,0,4221,3800,346,4094	0	0	1	0
chr10	124021238	124021238	-	GG	exonic	CHST15	.	frameshift insertion	CHST15:NM_001270765:exon6:c.1364_1365insCC:p.R456Pfs*29	.	.	593	121	299	273	236	1081	0.777369	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8095	94292.76	58	chr10	124021236	.	CGG	C,CG,CGGGG	94292.76	.	AC=4,33,1;AF=0.095,0.786,0.024;AN=42;BaseQRankSum=-1.600e-02;DP=3402;ExcessHet=0.6776;FS=23.539;InbreedingCoeff=-0.1053;MLEAC=4,33,1;MLEAF=0.095,0.786,0.024;MQ=59.99;MQRankSum=0.00;QD=27.55;ReadPosRankSum=-1.170e-01;SOR=0.000	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,8,103,0:112:99:.:.:4502,3921,3773,343,123,0,4221,3800,346,4094	0	0	1	0
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S	.	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.42	B	0.406	B	0.041	N	0.547	N	-0.345	N	-1.58	D	-0.266	T	0.330	T	0.333	1.581	11.24	3.98	0.967	1.940	11.061	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4762	25745.43	127	chr10	124989543	.	T	C	25745.43	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-1.935e+00;DP=2756;ExcessHet=43.6797;FS=18.332;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=49.30;MQRankSum=-8.794e+00;QD=9.77;ReadPosRankSum=0.699;SOR=0.186	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,28:130:99:0|1:124989533_G_A:768,0,4130:124989533	1	0	20	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36	.	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	13474.39	125	chr10	124989564	.	TG	T	13474.39	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-3.297e+00;DP=2881;ExcessHet=43.6797;FS=16.961;InbreedingCoeff=-0.9091;MLEAC=20;MLEAF=0.476;MQ=51.38;MQRankSum=-8.258e+00;QD=5.07;ReadPosRankSum=-1.778e+00;SOR=0.329	GT:AD:DP:GQ:PL	0/1:113,17:130:99:118,0,3776	1	0	20	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H	.	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.48	M	-1.64	D	0.598	D	0.722	D	0.666	4.396	23.3	5.36	2.030	7.698	15.357	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	7883.4	152	chr10	124994489	.	T	G	7883.4	.	AC=21;AF=0.500;AN=42;BaseQRankSum=1.91;DP=3256;ExcessHet=54.0936;FS=22.490;InbreedingCoeff=-0.9843;MLEAC=21;MLEAF=0.500;MQ=58.49;MQRankSum=-7.468e+00;QD=2.53;ReadPosRankSum=-3.768e+00;SOR=2.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,21:142:99:0|1:124994489_T_G:518,0,4897:124994489	0	0	21	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y	.	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.868	P	0.701	P	0.000	D	1.000	D	0.5	N	-1.36	T	-0.129	T	0.435	T	0.897	4.262	22.2	5.21	2.428	9.476	18.767	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	11255.74	156	chr10	124994501	.	G	A	11255.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.168e+00;DP=3468;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=58.01;MQRankSum=-6.676e+00;QD=3.46;ReadPosRankSum=-2.867e+00;SOR=3.343	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:113,25:138:99:0|1:124994489_T_G:710,0,4670:124994489	0	0	21	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q	.	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.682	P	0.383	B	0.000	D	1.000	D	-0.56	N	-1.26	T	-0.801	T	0.184	T	0.76	2.740	15.12	1.37	0.279	1.859	8.31	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	.	.	.	.	.	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	0.5	11481.74	156	chr10	124994505	.	A	T	11481.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.11;DP=3557;ExcessHet=54.0936;FS=34.605;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.84;MQRankSum=-6.427e+00;QD=3.53;ReadPosRankSum=-2.195e+00;SOR=3.365	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,25:139:99:0|1:124994489_T_G:706,0,4705:124994489	0	0	21	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F	.	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	2.82	M	-1.61	D	0.694	D	0.759	D	0.962	4.522	24.3	5.21	2.428	9.476	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	17751.74	151	chr10	124994530	.	G	A	17751.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.820e-01;DP=3935;ExcessHet=54.0936;FS=46.204;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=57.24;MQRankSum=-5.975e+00;QD=5.06;ReadPosRankSum=1.22;SOR=3.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,31:155:99:0|1:124994523_G_A:872,0,5011:124994523	0	0	21	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N	.	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.979	D	0.000	D	1.000	D	3.655	H	-1.86	D	0.923	D	0.835	D	0.591	4.999	29.4	5.21	2.428	7.487	18.767	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	9863.05	143	chr10	124994542	.	C	T	9863.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.164e+00;DP=3993;ExcessHet=43.6797;FS=49.168;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=57.04;MQRankSum=-5.810e+00;QD=3.01;ReadPosRankSum=1.99;SOR=3.857	GT:AD:DP:GQ:PL	0/1:124,34:158:99:492,0,3523	0	0	20	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q	.	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.835	M	-1.85	D	0.754	D	0.782	D	0.972	4.559	24.7	5.42	2.054	8.962	15.466	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11569.05	148	chr10	124994563	.	A	T	11569.05	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-2.224e+00;DP=4131;ExcessHet=43.6797;FS=57.159;InbreedingCoeff=-0.9535;MLEAC=21;MLEAF=0.525;MQ=56.94;MQRankSum=-6.032e+00;QD=3.36;ReadPosRankSum=3.18;SOR=4.119	GT:AD:DP:GQ:PL	0/1:129,37:166:99:458,0,3502	0	0	20	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H	.	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.954	D	0.000	D	1.000	D	0.535	N	-1.71	D	0.130	D	0.526	D	0.874	4.527	24.4	4.51	1.255	3.829	13.270	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	27377.74	154	chr10	124994577	.	C	A	27377.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-4.280e+00;DP=4255;ExcessHet=54.0936;FS=61.004;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=56.96;MQRankSum=-6.569e+00;QD=7.23;ReadPosRankSum=2.73;SOR=4.019	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,40:168:99:.:.:1198,0,3443	0	0	21	0
chr10	124998077	124998077	C	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.G656C:p.W219S	.	.	411	908	195	8	0	211	0.104095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.995	D	0.972	D	0.000	D	1.000	D	0.21	N	-1.24	T	0.015	D	0.436	T	0.965	4.582	24.9	4.73	2.329	7.484	18.072	0.729	0.132665301415	.	.	.	.	.	.	.	.	.	.	.	.	.	rs921417861	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.49613	D	0.251	0.48855	T	0.932	0.67487	P	0.903	0.72692	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.73	0.18813	N	-1.24	0.78967	T	-13.16	0.99944	D	0.816	0.82660	0.015	0.82548	D	0.436	0.77612	T	10	0.8384273	0.82996	D	0.132665	0.81500	D	0.729	0.90501	0.42	0.46200	0.916186859433	0.91534	0.939893042578689	0.93970	2.15981024662	0.95367	0.902819037437	0.96746	D	0.566519	0.85577	D	0.361391	0.87361	D	0.281337	0.87198	D	0.999315857887268	0.96929	D	0.787421	0.42665	T	0.9529722	0.96568	0.9167839	0.96171	0.9529722	0.96569	0.9167839	0.96171	-13.048	0.91030	D	.	.	0.987	0.92737	P	.;.;.;.;.;.	.;.;.;.;.;.	5.895887	0.93981	33	0.99155191442297097	0.53931	0.92847	0.56691	D	AEFDGBCI	0.944592	0.95186	D	0.526305507094081	0.68652	5.246556	0.569067646848623	0.72734	5.856765	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.565000	0.81337	5.908000	0.50981	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	18.072	0.89338	928	0.17405	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2613.45	155	chr10	124998077	.	C	G	2613.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.989e+00;DP=3731;ExcessHet=4.7172;FS=12.784;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.708e+00;QD=1.59;ReadPosRankSum=1.79;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,16:184:99:0|1:124998077_C_G:166,0,6976:124998077	2	0	9	10
chr10	124998080	124998080	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C653G:p.T218R	.	.	411	907	195	9	0	213	0.105081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.994	D	0.000	D	1.000	D	0.17	N	-1.31	T	0.036	D	0.482	T	0.76	4.180	21.6	4.73	2.329	9.471	18.072	0.679	0.0475041477189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.53900	T	0.336	0.34124	T	0.999	0.90584	D	0.989	0.81110	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.54	0.13725	N	-1.31	0.79666	T	-3.5	0.68298	D	0.928	0.95139	0.036	0.82969	D	0.482	0.80205	T	10	0.8320574	0.82367	D	0.047504	0.62952	D	0.679	0.88205	0.598	0.72862	0.765312620283	0.76316	0.9505245979181556	0.95036	2.12633044952	0.95074	0.794296979904	0.81096	T	0.503085	0.82273	D	0.222721	0.76033	D	0.0821472	0.75720	D	0.938564615564625	0.60928	D	0.79772	0.44184	T	0.9565074	0.96926	0.8445915	0.91143	0.9565074	0.96926	0.8445915	0.91143	-16.429	0.98336	D	.	.	0.949	0.86814	P	.;.;.;.;.;.	.;.;.;.;.;.	5.668071	0.92919	33	0.99401680195169373	0.62841	0.95078	0.63357	D	AEFDGBCI	0.948544	0.96027	D	0.585474125636482	0.72268	5.778968	0.626633119523619	0.76879	6.573287	0.999999999999998	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	9.597000	0.97445	8.536000	0.77474	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2556.39	158	chr10	124998080	.	G	C	2556.39	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-9.380e-01;DP=3732;ExcessHet=4.7172;FS=9.991;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.72;MQRankSum=-8.738e+00;QD=1.54;ReadPosRankSum=2.17;SOR=1.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:172,16:188:99:0|1:124998077_C_G:154,0,7174:124998077	2	0	9	10
chr10	124998087	124998087	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.A646G:p.R216G	.	.	414	922	177	9	0	195	0.0956351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.967	D	0.834	P	0.000	D	1.000	D	0.605	N	-1.44	T	-0.139	T	0.443	T	0.98	3.339	17.24	0.468	-0.119	-0.061	17.140	0.592	0.187163960256	.	.	.	.	.	.	.	.	.	.	.	.	.	rs914098337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.46513	T	0.114	0.50226	T	0.889	0.56408	P	0.532	0.59825	P	0.000000	0.84330	D	0.000000	0.999931	0.51612	D	1.53	0.38800	L	-1.44	0.80815	T	-6.41	0.91868	D	0.945	0.95491	-0.1393	0.79182	T	0.443	0.78033	T	10	0.8510742	0.84286	D	0.187164	0.85921	D	0.592	0.83747	0.59	0.71874	0.975786130339	0.97552	0.9668684472081748	0.96674	1.31579442616	0.83326	0.803737461567	0.82533	D	0.582432	0.86347	D	0.299844	0.82957	D	0.192928	0.82736	D	0.96776270866394	0.68017	D	0.831417	0.49863	T	0.8377413	0.86447	0.72207403	0.83588	0.8377413	0.86448	0.72207403	0.83589	-13.47	0.92423	D	.	.	0.990	0.93663	P	.;.;.;.;.;.	.;.;.;.;.;.	3.151647	0.42666	21.6	0.99467938748563089	0.66154	0.20835	0.21186	N	AEFDGBCI	0.404313	0.47765	N	-0.449297695031707	0.23763	1.278434	-0.489554569803757	0.22440	1.218867	0.999987001428746	0.51787	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	0.468	0.15943	-0.037000	0.12116	0.229000	0.16167	-0.876000	0.02500	0.022000	0.19841	0.016000	0.20520	0.945000	0.48827	0.0:0.0:0.2754:0.7246	17.140	0.86628	928	0.17405	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4091	2505.45	158	chr10	124998087	.	T	C	2505.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.870e+00;DP=3764;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.73;MQRankSum=-8.711e+00;QD=1.49;ReadPosRankSum=3.13;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,16:194:99:0|1:124998077_C_G:136,0,7426:124998077	2	0	9	10
chr10	124998090	124998090	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.C643T:p.R215W	.	.	413	929	171	9	0	189	0.0923302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.345	M	-2.1	D	0.927	D	0.842	D	0.994	4.577	24.9	4.73	2.329	2.969	18.072	0.874	0.341150234986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs945665113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.59928	D	0.005	0.74150	D	1.0	0.90584	D	0.994	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.78	0.95251	H	-2.1	0.86146	D	-7.06	0.95511	D	0.966	0.98840	0.927	0.96063	D	0.842	0.94722	D	10	0.9513125	0.94468	D	0.34115	0.92018	D	0.874	0.96243	0.801	0.92017	0.936821863726	0.93617	0.9793425394167631	0.97925	2.04020034352	0.94242	0.869401991367	0.92483	D	0.888608	0.97719	D	0.413835	0.90693	D	0.356669	0.90576	D	0.995111286640167	0.86855	D	0.922308	0.71764	D	0.9076591	0.92078	0.81096756	0.88961	0.9076591	0.92079	0.81096756	0.88962	-12.412	0.89971	D	.	.	0.994	0.94938	P	.;.;.;.;.;.	.;.;.;.;.;.	5.386720	0.90260	31	0.99921174864262352	0.98787	0.83216	0.42352	D	AEFDGBCI	0.811773	0.73467	D	0.762974766057605	0.83747	8.099164	0.668520105960494	0.79996	7.201961	0.999999999894642	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	2.889000	0.48300	4.484000	0.43545	-0.120000	0.14102	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	18.072	0.89338	928	0.17405	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2454.45	160	chr10	124998090	.	G	A	2454.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-6.220e-01;DP=3768;ExcessHet=4.7172;FS=12.587;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.75;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=3.67;SOR=1.910	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,16:194:99:0|1:124998077_C_G:136,0,7426:124998077	2	0	9	10
chr10	124998111	124998111	A	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T622G:p.C208G	.	.	410	944	157	11	0	179	0.0865989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.792	P	0.742	P	0.000	D	1.000	D	-2.125	N	-1.16	T	-0.313	T	0.196	T	0.932	4.200	21.8	4.73	1.888	8.957	14.522	0.706	0.118222220686	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796159102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.28271	T	0.677	0.30045	T	0.792	0.44688	P	0.742	0.55764	P	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.895	0.01383	N	-1.16	0.78082	T	-10.62	0.99118	D	0.915	0.92084	-0.3132	0.74615	T	0.196	0.55013	T	10	0.8713615	0.86403	D	0.118222	0.79821	D	0.706	0.89468	0.702	0.83869	0.912513623049	0.91163	0.9715165431574718	0.97140	1.07786358497	0.77034	0.792436718941	0.80814	T	0.566859	0.85593	D	0.34296	0.86036	D	0.254862	0.85852	D	0.979450762271881	0.72840	D	0.749425	0.37065	T	0.9582798	0.97106	0.86085767	0.92237	0.9582798	0.97106	0.86085767	0.92238	-11.17	0.90895	D	.	.	0.677	0.72022	P	.;.;.;.;.;.	.;.;.;.;.;.	4.908805	0.80750	27.4	0.97552676337226596	0.34577	0.93781	0.59173	D	AEFDGBCI	0.967747	0.99022	D	-0.0331808542601439	0.40357	2.395268	0.177505344340639	0.48618	3.075226	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	8.942000	0.92506	11.101000	0.86122	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.839000	0.39591	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4091	2457.45	157	chr10	124998111	.	A	C	2457.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.854e+00;DP=3819;ExcessHet=4.7172;FS=10.323;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.45;ReadPosRankSum=4.32;SOR=1.742	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,16:198:99:0|1:124998111_A_C:124,0,7589:124998111	2	0	9	10
chr10	124998113	124998113	A	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon4:c.T620C:p.I207T	.	.	407	952	152	11	0	174	0.0837344	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.071	B	0.56	P	0.006	N	0.988	D	2.42	M	0.83	T	-0.464	T	0.283	T	0.768	3.273	16.99	4.73	1.888	7.155	14.522	0.345	0.0441406922816	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs376695472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.49117	D	0.018	0.63109	D	0.009	0.16609	B	0.245	0.43514	B	0.005992	0.32354	N	0.362203	0.988384	0.40754	D	1.57	0.39626	L	0.83	0.47815	T	-2.71	0.62630	D	0.584	0.63544	-0.4637	0.69944	T	0.283	0.65458	T	10	0.6084408	0.67308	D	0.044141	0.61343	D	0.345	0.66676	0.751	0.88155	0.737279644149	0.73493	0.9229225010523135	0.92269	2.07736266856	0.94533	0.59366941452	0.52011	T	0.642362	0.89048	D	0.0826065	0.62345	D	-0.119118	0.61876	T	0.971555709838867	0.69361	D	0.751225	0.37284	T	0.56677717	0.70883	0.3280792	0.58700	0.56677717	0.70884	0.3280792	0.58699	-8.556	0.67961	D	.	.	0.481	0.69086	A	.;.;.;.;.;.	.;.;.;.;.;.	3.559859	0.50089	22.9	0.99260520779104144	0.57188	0.90885	0.52445	D	AEFDGBCI	0.920892	0.89354	D	0.260421526544683	0.54157	3.581951	0.337703125837148	0.57769	3.944058	0.999999999998707	0.74766	0.67177	0.52595	0	0.550933	0.16991	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	4.73	4.73	0.59485	7.143000	0.76935	7.993000	0.76119	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.563000	0.30483	1.0:0.0:0.0:0.0	14.522	0.67442	928	0.17405	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4091	2409.45	160	chr10	124998113	.	A	G	2409.45	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-1.285e+00;DP=3825;ExcessHet=4.7172;FS=8.581;InbreedingCoeff=-0.5000;MLEAC=13;MLEAF=0.591;MQ=58.76;MQRankSum=-8.818e+00;QD=1.41;ReadPosRankSum=4.07;SOR=1.744	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,16:199:99:0|1:124998111_A_C:121,0,7630:124998111	2	0	9	10
chr10	125026996	125026996	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_022802:exon1:c.G764A:p.R255H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.957	D	0.312	B	0.491	N	1.000	N	.	.	-1.7	D	-0.635	T	0.336	T	0.219	1.344	10.42	1.45	0.204	0.040	2.657	0.224	0.139274203028	7.7e-05	0.000199681	9.146e-05	0	0	0.0001	0	0.0001	0	0.0002	0.00011	17	154602	rs143281706	9.099e-05	9.098e-05	8.85e-05	9.352e-05	0.0005	7.824e-05	7.306e-05	0.0001	0.0001	0	0	0	0	0	0.0005	9.083e-05	0.0002	0.0002	8.534e-05	8.53e-05	6.422e-05	0.0001	0.0002	4.953e-05	3.959e-05	6.804e-05	5.088e-05	4.809e-05	0	6.533e-05	0	0	0	0	0.0001	0	0.0002	0.001	0.78490	D	0.139	0.33666	T	0.957	0.54824	D	0.312	0.41466	B	0.490760	0.12060	N	0.682165	1	0.08975	N	.	.	.	-1.7	0.83072	D	-0.33	0.12472	N	0.2	0.22098	-0.6352	0.63350	T	0.336	0.70273	T	9	0.07831073	0.12465	T	0.139274	0.82175	D	0.224	0.52174	.	.	0.41887692313	0.41506	0.1500740344583782	0.14929	0.198761415624	0.22255	0.374867796898	0.21527	T	.	.	.	-0.271836	0.11554	T	-0.322274	0.42324	T	0.130934312939644	0.15468	T	0.693131	0.30283	T	.	.	.	.	.	.	.	.	-4.773	0.34275	T	.	.	0.077	0.06341	B	.	.	1.136517	0.15237	11.69	0.99804158234288942	0.88906	0.07280	0.13303	N	AEFDBCI	0.075572	0.15179	N	-0.440224513051652	0.24073	1.297261	-0.612254684180121	0.19178	1.027813	0.999952910175145	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.223423	0.04632	3	0.714379	0.83352	0	.	.	4.54	1.45	0.21708	0.077000	0.14593	-1.612000	0.05062	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.083000	0.17415	0.1522:0.5295:0.148:0.1703	2.657	0.04709	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1832.98	42	chr10	125026996	.	C	T	1832.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=1107;ExcessHet=0.0000;FS=0.581;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.367;SOR=0.629	GT:AD:DP:GQ:PL	0/1:89,72:161:99:1847,0,2204	20	0	1	0
chr10	133238077	133238077	C	T	exonic	VENTX	.	nonsynonymous SNV	VENTX:NM_014468:exon1:c.C163T:p.R55W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.064	B	0.003	B	0.100	U	1.000	N	0.55	N	0.67	T	-1.020	T	0.079	T	0.042	1.285	10.20	-1.44	-0.406	-0.332	4.195	0.017	0.00658458729226	.	.	1.429e-05	0	0	0	0	0	0	8.226e-05	6.5e-06	1	154602	rs770162711	2.768e-06	6.156e-06	4.123e-06	1.393e-06	0.0004	6.5e-07	4.4e-07	6.929e-05	2.895e-05	0	0	0	0	0	0.0004	0	0	2.382e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.43393	D	0.037	0.51737	D	0.064	0.23455	B	0.003	0.08700	B	0.100447	0.02542	U	2.218800	1	0.08975	N	0.55	0.14455	N	0.67	0.52187	T	-2.59	0.55821	D	0.092	0.07125	-1.0199	0.23747	T	0.079	0.31526	T	10	0.07006031	0.10141	T	0.006585	0.17358	T	0.017	0.02790	0.239	0.17065	0.154104182512	0.14974	0.29242501114007835	0.29155	0.207108910058	0.23151	0.395406752825	0.24428	T	0.120601	0.44295	T	-0.318233	0.07043	T	-0.694896	0.06109	T	0.0450861057932624	0.04617	T	0.577542	0.20782	T	0.06406259	0.13553	0.074304804	0.16240	0.06406259	0.13553	0.074304804	0.16240	-4.303	0.28219	T	.	.	0.085	0.10159	B	.	.	1.477175	0.19022	14.05	0.97517500879619801	0.34384	0.00927	0.03598	N	AEFBI	0.035856	0.04683	N	-1.37793126096701	0.02845	0.1262431	-1.47467305018482	0.02553	0.1176454	0.999545181369646	0.40300	0.652421	0.48094	0	0.59043	0.45803	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	1.9	-1.44	0.08391	-0.099000	0.10976	-1.833000	0.04643	-1.038000	0.01672	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1728:0.4741:0.353:0.0	4.195	0.09899	994	0.00715	.	.	.	.	.	.	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	1	0	0	0	0.025	393.33	31	chr10	133238077	.	C	T	393.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.720e-01;DP=577;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.46;MQRankSum=-4.950e-01;QD=17.10;ReadPosRankSum=1.44;SOR=0.804	GT:AD:DP:GQ:PL	0/1:6,17:23:99:407,0,105	19	0	1	1
chr11	540740	540740	G	A	exonic	LRRC56	.	nonsynonymous SNV	LRRC56:NM_198075:exon4:c.G56A:p.R19Q,	.	.	422	1087	11	2	0	15	0.00685244	.	.	1548654	not_provided|LRRC56-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.2	T	0.018	B	0.003	B	0.955	N	1.000	N	0.35	N	2.85	T	-0.964	T	0.010	T	0.05	0.492	6.667	-5.16	-1.677	-2.896	5.482	0.011	0.00309820486243	0.0038	0.00439297	0.0025	0.0095	0.0029	0	0	0.0022	0.0026	0.0015	0.0022639	350	154602	rs144525570	0.0016	0.0016	0.0015	0.0016	0.0210	0.0015	0.0015	0.0179	0.0168	0.0097	0.0027	0.0007	2.52e-05	9.584e-05	0.0210	0.0013	0.0033	0.0011	0.0037	0.0036	0.0038	0.0035	0.0088	0.0034	0.0033	0.0081	0.0078	0.0088	0	0.0037	0.0009	0	0	0.0170	0.0015	0.0043	0.0033	0.349	0.12345	T	0.275	0.22016	T	0.018	0.17786	B	0.003	0.08700	B	0.954772	0.08263	N	0.976842	1	0.08975	N	0.515	0.13537	N	2.85	0.10578	T	-0.76	0.21215	N	0.05	0.02179	-0.9639	0.38428	T	0.010	0.03537	T	10	0.004208058	0.00084	T	0.003098	0.06726	T	0.011	0.01250	.	.	0.130388298395	0.12655	0.3675473950119055	0.36668	.	.	0.330809742212	0.15057	T	0.002713	0.02105	T	-0.733651	0.00023	T	-0.820783	0.01436	T	0.00333462895417693	0.00035	T	0.60444	0.22695	T	0.036576673	0.04525	0.036482133	0.03104	0.036576673	0.04525	0.036482133	0.03104	-3.885	0.22077	T	0.10907979318312648	0.09068	0.071	0.03887	B	.	.	-0.679974	0.01368	0.078	0.88345943016220319	0.17904	0.00723	0.03043	N	AEFDBI	0.029879	0.02902	N	-1.47638766735075	0.02018	0.0886564	-1.53266931245058	0.02097	0.09595504	0.999998525149659	0.74766	0.700653	0.57754	0	0.633656	0.55848	0	0.717052	0.78885	0	0.604944	0.38103	0	.	.	4.88	-5.16	0.02640	-2.919000	0.00761	-1.826000	0.04656	-0.733000	0.03713	0.000000	0.06391	0.000000	0.08366	0.235000	0.22869	0.5069:0.0:0.264:0.2291	5.482	0.16024	895	0.25842	.	.	.	.	.	.	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	0.02381	989.98	34	chr11	540740	.	G	A	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=764;ExcessHet=0.0000;FS=1.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.20;ReadPosRankSum=-8.130e-01;SOR=0.860	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1004,0,733	20	0	1	0
chr11	1016991	1016991	T	0	exonic	MUC6	.	.	.	.	.	358	255	795	7	107	916	0.613343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	62335.98	527	chr11	1016991	.	T	*,G	62335.98	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=3.01;DP=12391;ExcessHet=36.0830;FS=1.214;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=54.84;MQRankSum=-1.661e+01;QD=5.45;ReadPosRankSum=-4.007e+00;SOR=0.802	GT:AD:DP:GQ:PL	0/2:449,67,287:803:99:10209,8869,28158,0,15845,17722	2	0	2	0
chr11	1017464	1017464	T	0	exonic	MUC6	.	.	.	.	.	358	217	98	1	848	948	0.187266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	62761.5	562	chr11	1017464	.	T	G,C,*	62761.5	.	AC=4,11,5;AF=0.100,0.275,0.125;AN=40;BaseQRankSum=3.67;DP=13460;ExcessHet=43.6797;FS=0.579;InbreedingCoeff=-0.9535;MLEAC=4,11,5;MLEAF=0.100,0.275,0.125;MQ=56.28;MQRankSum=-1.476e+01;QD=5.03;ReadPosRankSum=3.18;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:444,93,67,0:604:99:.:.:2579,0,18361,1094,15844,19533,3894,18641,19735,22532	0	0	4	1
chr11	1017465	1017465	C	0	exonic	MUC6	.	.	.	.	.	334	991	23	0	174	197	0.0114713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2059	810.88	546	chr11	1017465	.	C	A,*	810.88	.	AC=2,5;AF=0.059,0.147;AN=34;BaseQRankSum=-3.140e-01;DP=13242;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=2,6;MLEAF=0.059,0.176;MQ=55.99;MQRankSum=-7.141e+00;QD=0.16;ReadPosRankSum=-2.532e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:570,36,71:677:99:.:.:1229,1551,25357,0,22502,23909	10	0	2	4
chr11	1017466	1017466	T	0	exonic	MUC6	.	.	.	.	.	0	26	52	0	148	200	0.5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	54938.57	566	chr11	1017466	.	T	C,A,*	54938.57	.	AC=13,3,5;AF=0.310,0.071,0.119;AN=42;BaseQRankSum=2.07;DP=13458;ExcessHet=54.0936;FS=0.611;InbreedingCoeff=-1.0000;MLEAC=13,3,5;MLEAF=0.310,0.071,0.119;MQ=56.42;MQRankSum=-1.354e+01;QD=4.16;ReadPosRankSum=3.19;SOR=0.632	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:449,92,67,71:679:99:.:.:2512,0,18577,1050,16040,19702,882,15872,16922,19522	0	0	13	0
chr11	1017470	1017470	G	0	exonic	MUC6	.	.	.	.	.	0	29	117	0	80	197	0.668571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	88683.23	557	chr11	1017470	.	G	T,*	88683.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=0.038;DP=13562;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.458e+01;QD=7.02;ReadPosRankSum=3.68;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:455,171,0:626:99:0|1:1017470_G_T:5811,0,18591,7180,19105,26286:1017470	0	0	15	1
chr11	1017471	1017471	C	0	exonic	MUC6	.	.	.	.	.	335	839	180	1	167	349	0.0978495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	9671.86	554	chr11	1017471	.	C	T,*	9671.86	.	AC=10,4;AF=0.294,0.118;AN=34;BaseQRankSum=1.94;DP=13468;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=11,5;MLEAF=0.324,0.147;MQ=55.80;MQRankSum=-1.060e+01;QD=1.01;ReadPosRankSum=2.55;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:548,79,71:698:99:.:.:1644,0,22769,317,20027,23133	3	0	10	4
chr11	1017483	1017483	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	81106.23	565	chr11	1017483	.	T	G,*	81106.23	.	AC=15,5;AF=0.375,0.125;AN=40;BaseQRankSum=6.32;DP=13450;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9535;MLEAC=15,5;MLEAF=0.375,0.125;MQ=56.60;MQRankSum=-1.502e+01;QD=6.50;ReadPosRankSum=3.20;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:475,188,0:663:99:0|1:1017470_G_T:6464,0,19379,7894,19945,27839:1017470	0	0	15	1
chr11	1017489	1017489	G	0	exonic	MUC6	.	.	.	.	.	344	749	262	0	167	429	0.148864	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	7292.49	575	chr11	1017489	.	G	A,*	7292.49	.	AC=12,5;AF=0.300,0.125;AN=40;BaseQRankSum=5.22;DP=13481;ExcessHet=25.1139;FS=0.874;InbreedingCoeff=-0.6876;MLEAC=12,5;MLEAF=0.300,0.125;MQ=56.46;MQRankSum=-8.490e+00;QD=0.71;ReadPosRankSum=0.688;SOR=0.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:609,73,0:682:99:0|1:1017461_G_T:1232,0,25346,3065,25565,28630:1017461	3	0	12	1
chr11	1017495	1017498	ATGC	0	exonic	MUC6	.	.	.	.	.	368	763	224	1	166	392	0.128995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	22503.92	584	chr11	1017495	.	ATGC	A,*	22503.92	.	AC=10,3;AF=0.313,0.094;AN=32;BaseQRankSum=3.43;DP=13485;ExcessHet=11.8493;FS=2.630;InbreedingCoeff=-0.5849;MLEAC=12,4;MLEAF=0.375,0.125;MQ=55.70;MQRankSum=-1.139e+01;QD=2.46;ReadPosRankSum=8.78;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:596,115,0:711:99:.:.:2980,0,24460,4774,24834,29686	3	0	10	5
chr11	1017498	1017498	C	0	exonic	MUC6	.	.	.	.	.	7	56	24	0	139	163	0.176471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	21074.63	572	chr11	1017498	.	C	G,T,*	21074.63	.	AC=7,4,7;AF=0.194,0.111,0.194;AN=36;BaseQRankSum=-3.970e-01;DP=13422;ExcessHet=30.0624;FS=1.184;InbreedingCoeff=-0.8667;MLEAC=8,4,8;MLEAF=0.222,0.111,0.222;MQ=56.34;MQRankSum=-1.681e+01;QD=1.81;ReadPosRankSum=3.85;SOR=0.600	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:520,0,69,186:775:99:0|1:1017461_G_T:6190,7758,29489,4870,26630,26504,0,21649,18764,21061:1017461	0	0	7	3
chr11	1017514	1017514	A	0	exonic	MUC6	.	.	.	.	.	2	59	85	0	80	165	0.418719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	104987.83	590	chr11	1017514	.	A	G,*	104987.83	.	AC=15,4;AF=0.395,0.105;AN=38;BaseQRankSum=-1.403e+00;DP=13650;ExcessHet=36.0830;FS=1.234;InbreedingCoeff=-0.9091;MLEAC=16,4;MLEAF=0.421,0.105;MQ=56.57;MQRankSum=-1.729e+01;QD=8.60;ReadPosRankSum=3.73;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:520,174,0:694:99:0|1:1017470_G_T:5638,0,20529,7227,21189,28826:1017470	0	0	15	2
chr11	1017596	1017596	T	0	exonic	MUC6	.	.	.	.	.	389	572	462	1	98	562	0.288557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3056	13853.16	475	chr11	1017596	.	T	G,*	13853.16	.	AC=9,2;AF=0.250,0.056;AN=36;BaseQRankSum=-3.120e-01;DP=12315;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4237;MLEAC=10,2;MLEAF=0.278,0.056;MQ=59.48;MQRankSum=0.00;QD=2.25;ReadPosRankSum=0.130;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:560,100,0:660:99:.:.:1230,0,16431,3137,17738,24041	7	0	9	3
chr11	1017655	1017655	G	0	exonic	MUC6	.	.	.	.	.	390	675	445	0	12	457	0.247911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	15394.48	526	chr11	1017655	.	G	A,*	15394.48	.	AC=11,1;AF=0.262,0.024;AN=42;BaseQRankSum=0.846;DP=13673;ExcessHet=9.6308;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=11,1;MLEAF=0.262,0.024;MQ=59.47;MQRankSum=0.935;QD=2.07;ReadPosRankSum=0.561;SOR=0.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:658,87,0:745:99:.:.:578,0,19213,2552,19472,22024	9	0	11	0
chr11	1018226	1018226	T	0	exonic	MUC6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	11874.25	178	chr11	1018226	.	T	G,*	11874.25	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=4.07;DP=3953;ExcessHet=20.9642;FS=12.534;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=57.35;MQRankSum=-8.912e+00;QD=3.83;ReadPosRankSum=0.169;SOR=1.148	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:181,16,0:197:99:.:.:127,0,7552,672,7600,8272	5	0	15	0
chr11	1018228	1018228	G	0	exonic	MUC6	.	.	.	.	.	413	954	154	0	1	155	0.0746848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	1624.13	178	chr11	1018228	.	G	*,A	1624.13	.	AC=5,11;AF=0.119,0.262;AN=42;BaseQRankSum=2.18;DP=4019;ExcessHet=20.9642;FS=26.259;InbreedingCoeff=-0.6149;MLEAC=5,11;MLEAF=0.119,0.262;MQ=57.37;MQRankSum=-8.668e+00;QD=0.53;ReadPosRankSum=-1.860e+00;SOR=3.039	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:177,0,17:194:99:.:.:181,714,8135,0,7421,7370	5	0	5	0
chr11	1095948	1095948	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	143278.47	224	chr11	1095948	.	C	G,*	143278.47	.	AC=40,1;AF=0.952,0.024;AN=42;BaseQRankSum=1.49;DP=4120;ExcessHet=0.0000;FS=1.823;InbreedingCoeff=-0.0244;MLEAC=40,1;MLEAF=0.952,0.024;MQ=54.83;MQRankSum=1.39;QD=32.74;ReadPosRankSum=1.46;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,171,0:171:99:.:.:6916,512,0,6916,512,6916	0	19	1	0
chr11	1095999	1095999	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	158783.66	219	chr11	1095999	.	A	T,C,*	158783.66	.	AC=40,1,1;AF=0.952,0.024,0.024;AN=42;BaseQRankSum=0.638;DP=4365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,1,1;MLEAF=0.952,0.024,0.024;MQ=58.57;MQRankSum=11.29;QD=24.86;ReadPosRankSum=-1.695e+00;SOR=0.380	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,188,7,0:195:99:.:.:7175,563,0,7087,275,8160,7344,569,7700,7825	0	19	0	0
chr11	1096141	1096168	CCTGACACCCATCACCACCACCACTACG	0	exonic	MUC2	.	.	.	.	.	463	999	52	0	8	60	0.0253659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:472,97,0,0:569:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2139,0,19182,3560,19473,23033,3560,19473,23033,23033:1096141	13	0	5	1
chr11	1096142	1096143	CT	-	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.152e-05	0.0001	0	0.0005	0.0002	0.0002	0.0003	2.72e-05	0.0002	0.0007	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	7.632e-05	0	0.0004	0	0.0002	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	11410.69	566	chr11	1096141	.	CCTGACACCCATCACCACCACCACTACG	C,*,CGACACCCATCACCACCACCACTACG	11410.69	.	AC=5,2,1;AF=0.125,0.050,0.025;AN=40;BaseQRankSum=0.837;DP=9083;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0413;MLEAC=5,2,1;MLEAF=0.125,0.050,0.025;MQ=56.99;MQRankSum=-2.825e+00;QD=4.13;ReadPosRankSum=0.431;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:472,97,0,0:569:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2139,0,19182,3560,19473,23033,3560,19473,23033,23033:1096141	13	0	5	1
chr11	1096143	1096212	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	508	767	11	0	236	247	0.00711974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	37726.02	456	chr11	1096143	.	TGACACCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	T,*	37726.02	.	AC=12,8;AF=0.286,0.190;AN=42;BaseQRankSum=2.69;DP=11682;ExcessHet=26.8223;FS=0.000;InbreedingCoeff=-0.7182;MLEAC=12,8;MLEAF=0.286,0.190;MQ=57.74;MQRankSum=-5.520e+00;QD=5.63;ReadPosRankSum=-1.130e+00;SOR=0.704	GT:AD:DP:GQ:PL	0/2:152,79,103:340:99:2906,220,10260,0,6750,14444	2	0	12	0
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,79,0:340:99:.:.:2686,0,10040,3969,10588,18923	1	0	17	1
chr11	1096155	1096155	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362776823	0.0019	0.0052	0.0019	0.0019	0.0094	0.0018	0.0018	0.0083	0.0079	0.0094	0.0017	0.0027	6.019e-05	0.0067	0.0025	0.0016	0.0033	0.0002	0.0022	0.0038	0.0019	0.0025	0.0061	0.0020	0.0019	0.0054	0.0051	0.0061	0	0.0010	0.0004	0	0.0006	0	0.0006	0.0032	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.475	2478.81	456	chr11	1096155	.	C	*,G	2478.81	.	AC=17,2;AF=0.425,0.050;AN=40;BaseQRankSum=1.10;DP=11237;ExcessHet=40.9761;FS=0.000;InbreedingCoeff=-0.8455;MLEAC=18,2;MLEAF=0.450,0.050;MQ=56.37;MQRankSum=-1.489e+00;QD=0.42;ReadPosRankSum=-3.800e+00;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,79,0:340:99:.:.:2686,0,10040,3969,10588,18923	1	0	17	1
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	5334.59	473	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*,T	5334.59	.	AC=10,4;AF=0.313,0.125;AN=32;BaseQRankSum=2.94;DP=10251;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.6141;MLEAC=12,5;MLEAF=0.375,0.156;MQ=57.71;MQRankSum=-5.342e+00;QD=1.04;ReadPosRankSum=-1.810e+00;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,82,100:437:3:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2678,0,9503,3,6558,14372:1096141	2	0	10	5
chr11	1096180	1096180	C	0	exonic	MUC2	.	.	.	.	.	532	749	62	4	175	245	0.0446429	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5333	9964.82	473	chr11	1096180	.	C	A,*	9964.82	.	AC=3,13;AF=0.100,0.433;AN=30;BaseQRankSum=1.20;DP=9719;ExcessHet=11.8260;FS=0.000;InbreedingCoeff=-0.6114;MLEAC=4,16;MLEAF=0.133,0.533;MQ=55.18;MQRankSum=-5.213e+00;QD=2.11;ReadPosRankSum=-3.960e-01;SOR=0.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:255,0,82:437:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2678,3711,15799,0,10179,9503:1096141	0	1	1	6
chr11	1096181	1096181	C	0	exonic	MUC2	.	.	.	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,82,0:437:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2678,0,9503,3711,10179,15799:1096141	1	0	11	7
chr11	1096181	1096181	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	514	824	9	0	175	184	0.0054315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0051	0.0024	0.0025	0.0031	0.0023	0.0023	0.0022	0.0022	0.0004	0.0017	0.0035	0	0.0156	0.0031	0.0023	0.0036	0.0004	0.0006	0.0013	0.0007	0.0006	0.0010	0.0005	0.0005	0.0008	0.0007	5.841e-05	0	0.0007	0.0008	0	0.0011	0	0.0010	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.4643	3441.94	473	chr11	1096181	.	C	*,G	3441.94	.	AC=11,2;AF=0.393,0.071;AN=28;BaseQRankSum=0.590;DP=9622;ExcessHet=13.8672;FS=0.000;InbreedingCoeff=-0.5837;MLEAC=14,3;MLEAF=0.500,0.107;MQ=56.12;MQRankSum=-2.654e+00;QD=0.82;ReadPosRankSum=0.675;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:255,82,0:437:99:0|1:1096141_CCTGACACCCATCACCACCACCACTACG_C:2678,0,9503,3711,10179,15799:1096141	1	0	11	7
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	4493.11	106	chr11	1096594	.	C	A	4493.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.553;DP=2712;ExcessHet=0.1072;FS=1.107;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.56;MQRankSum=-8.960e-01;QD=10.60;ReadPosRankSum=-6.600e-02;SOR=0.609	GT:AD:DP:GQ:PL	0/1:123,123:246:99:2724,0,2959	19	0	2	0
chr11	1096664	1096664	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	61688.6	93	chr11	1096664	.	T	C,*	61688.6	.	AC=40,2;AF=0.952,0.048;AN=42;DP=2147;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=53.76;QD=30.39;SOR=1.458	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,110,0:110:99:.:.:3421,321,0,3627,339,4212	0	19	0	0
chr11	1096897	1096897	A	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6333	3680.93	78	chr11	1096897	.	A	G,*	3680.93	.	AC=18,1;AF=0.600,0.033;AN=30;BaseQRankSum=1.84;DP=894;ExcessHet=0.0009;FS=56.653;InbreedingCoeff=0.4463;MLEAC=23,1;MLEAF=0.767,0.033;MQ=39.56;MQRankSum=-1.082e+00;QD=11.29;ReadPosRankSum=-7.730e-01;SOR=2.505	GT:AD:DP:GQ:PL	0/1:89,13,0:102:99:125,0,2193,391,2232,2623	4	8	2	6
chr11	1097308	1097308	-	ACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	exonic	MUC2	.	unknown	UNKNOWN,	.	.	646	865	11	0	0	11	0.00631821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0022	0.0020	0.0020	0.0024	0.0112	0.0021	0.0021	0.0102	0.0098	0.0017	0.0027	0.0027	0.0112	0.0033	0.0023	0.0016	0.0026	0.0033	5.6e-05	8.507e-05	6.629e-05	4.543e-05	7.101e-05	2.136e-05	1.388e-05	1.883e-05	1.022e-05	4.239e-05	0	0	0	0	0.0002	0	7.101e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	3629.07	88	chr11	1097308	.	C	CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT	3629.07	.	AC=6;AF=0.150;AN=40;BaseQRankSum=0.894;DP=4713;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=38.56;MQRankSum=1.03;QD=2.33;ReadPosRankSum=-3.810e+00;SOR=0.722	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:302,52:354:99:0|1:1097308_C_CACGGTGACCCCAACCCCAACACCCACTGGCACACAGACCCCAACCACAACAGCCATCACCACCACCACT:415,0,6866:1097308	14	0	6	1
chr11	1097805	1097805	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	683	827	12	0	0	12	0.00720288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.083e-05	0.0006	4.152e-05	2.074e-05	9.699e-05	2.144e-05	1.822e-05	2.385e-05	1.288e-05	9.699e-05	9e-05	9.62e-05	6.337e-05	0	0	2.691e-05	0	1.488e-05	4.208e-05	0.0002	4.311e-05	4.11e-05	0.0002	6.98e-06	2.61e-06	3.316e-05	1.363e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,12,0:152:99:0|1:1097750_G_A:114,0,4545,491,4581,5072:1097750	13	0	4	3
chr11	1097805	1097805	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.542e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1389	610.1	129	chr11	1097805	.	C	A,T	610.1	.	AC=4,1;AF=0.111,0.028;AN=36;BaseQRankSum=-3.609e+00;DP=2223;ExcessHet=1.1607;FS=29.852;InbreedingCoeff=-0.1831;MLEAC=4,1;MLEAF=0.111,0.028;MQ=35.19;MQRankSum=-9.600e-02;QD=1.08;ReadPosRankSum=-6.300e-01;SOR=4.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,12,0:152:99:0|1:1097750_G_A:114,0,4545,491,4581,5072:1097750	13	0	4	3
chr11	1098781	1098781	C	0	exonic	MUC2	.	.	.	.	.	634	850	36	0	2	38	0.0207373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	3468.15	182	chr11	1098781	.	C	T,*	3468.15	.	AC=7,2;AF=0.206,0.059;AN=34;BaseQRankSum=5.51;DP=3838;ExcessHet=4.7172;FS=16.398;InbreedingCoeff=-0.3588;MLEAC=8,2;MLEAF=0.235,0.059;MQ=37.99;MQRankSum=1.81;QD=2.74;ReadPosRankSum=6.000e-03;SOR=1.779	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,21,0:149:99:0|1:1098716_A_G:476,0,5311,864,5356,6223:1098716	8	0	7	4
chr11	1098794	1098794	C	0	exonic	MUC2	.	.	.	.	.	660	820	40	0	2	42	0.0238095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	2288.8	166	chr11	1098794	.	C	T,*	2288.8	.	AC=8,2;AF=0.222,0.056;AN=36;BaseQRankSum=4.68;DP=3810;ExcessHet=6.1002;FS=15.276;InbreedingCoeff=-0.3771;MLEAC=9,2;MLEAF=0.250,0.056;MQ=37.26;MQRankSum=1.73;QD=1.52;ReadPosRankSum=-1.122e+00;SOR=1.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,18,0:151:99:0|1:1098716_A_G:363,0,5370,754,5403,6151:1098716	8	0	8	3
chr11	1098812	1098812	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1962.92	133	chr11	1098812	.	C	A,*	1962.92	.	AC=9,3;AF=0.250,0.083;AN=36;BaseQRankSum=2.08;DP=3561;ExcessHet=9.6308;FS=3.400;InbreedingCoeff=-0.4724;MLEAC=10,3;MLEAF=0.278,0.083;MQ=36.45;MQRankSum=0.209;QD=1.00;ReadPosRankSum=-2.579e+00;SOR=1.127	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,23,0:150:99:0|1:1098716_A_G:457,0,4855,851,4961,5965:1098716	6	0	9	3
chr11	1098813	1098813	C	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1884.38	133	chr11	1098813	.	C	*,T	1884.38	.	AC=3,9;AF=0.083,0.250;AN=36;BaseQRankSum=2.50;DP=3551;ExcessHet=9.6308;FS=3.047;InbreedingCoeff=-0.4710;MLEAC=3,10;MLEAF=0.083,0.278;MQ=36.42;MQRankSum=-1.580e-01;QD=0.91;ReadPosRankSum=-2.579e+00;SOR=0.949	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:123,3,22:148:99:0|1:1098716_A_G:415,684,5997,0,4841,4858:1098716	6	0	3	3
chr11	1098825	1098825	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	697.62	108	chr11	1098825	.	T	A,*	697.62	.	AC=4,2;AF=0.154,0.077;AN=26;BaseQRankSum=3.00;DP=3021;ExcessHet=1.7912;FS=0.664;InbreedingCoeff=-0.3114;MLEAC=5,3;MLEAF=0.192,0.115;MQ=36.82;MQRankSum=0.477;QD=0.77;ReadPosRankSum=-2.954e+00;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:114,17,0:136:99:.:.:254,0,4604,615,4657,5276	7	0	4	8
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8571	99733.73	157	chr11	1099370	.	G	A,*	99733.73	.	AC=36,6;AF=0.857,0.143;AN=42;BaseQRankSum=2.61;DP=6688;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=36,6;MLEAF=0.857,0.143;MQ=54.00;MQRankSum=1.34;QD=23.82;ReadPosRankSum=0.267;SOR=0.336	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,213,0:214:99:.:.:6542,631,0,6543,638,6916	0	15	0	0
chr11	1099661	1099661	-	CTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	exonic	MUC2	.	unknown	UNKNOWN,	.	.	445	603	462	1	11	475	0.277844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	0	0	0	0.0001	0	0.0005	3.84e-05	1	26028	.	0.0006	0.0013	0.0006	0.0007	0.0032	0.0006	0.0006	0.0026	0.0024	0.0014	0.0005	0.0010	0.0032	0.0007	0.0006	0.0004	0.0010	0.0012	0.0015	0.0019	0.0012	0.0018	0.0019	0.0013	0.0012	0.0015	0.0013	0.0019	0	0.0011	0.0026	0.0006	0.0010	0	0.0015	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	23720.71	427	chr11	1099661	.	A	C,ACTACCGTGACCCCAACCCCAACACCCACCGGCACACAGAGTACAACCCTGACACCCATCACCACCACC	23720.71	.	AC=4,2;AF=0.143,0.071;AN=28;BaseQRankSum=0.167;DP=7139;ExcessHet=1.7912;FS=4.643;InbreedingCoeff=-0.2923;MLEAC=5,3;MLEAF=0.179,0.107;MQ=58.74;MQRankSum=-9.005e+00;QD=9.92;ReadPosRankSum=1.55;SOR=0.734	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:283,134,0:417:99:0|1:1099661_A_C:4571,0,11272,5422,11676,17098:1099661	8	0	4	7
chr11	1191075	1191146	AACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT	-	exonic	MUC5AC	.	nonframeshift deletion	MUC5AC:NM_001304359:exon31:c.12930_13001del:p.T4319_G4342del,	.	.	444	1059	3	0	16	19	0.00141443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.02e-05	0.0038	2.593e-05	3.374e-05	0.0002	1.887e-05	1.556e-05	8.261e-05	5.007e-05	0.0002	0	0	5.705e-05	2.702e-05	0	1.76e-05	6.279e-05	4.44e-05	0.0020	0.0043	0.0020	0.0019	0.0025	0.0018	0.0017	0.0022	0.0021	0.0014	0.0011	0.0013	0.0017	0.0012	0.0031	0.0034	0.0025	0.0014	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	434.94	693	chr11	1191074	.	CAACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT	C	434.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=13822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.29;MQRankSum=-2.091e+01;QD=0.29;ReadPosRankSum=-3.229e+00;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1351,137:1488:99:0|1:1191074_CAACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT_C:449,0,49949:1191074	20	0	1	0
chr11	1191078	1191078	T	0	exonic	MUC5AC	.	.	.	.	.	444	1027	30	0	21	51	0.0143954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	1149.45	693	chr11	1191078	.	T	C,*	1149.45	.	AC=2,1;AF=0.056,0.028;AN=36;BaseQRankSum=1.85;DP=14543;ExcessHet=0.3300;FS=0.851;InbreedingCoeff=-0.1200;MLEAC=2,1;MLEAF=0.056,0.028;MQ=57.97;MQRankSum=-1.375e+01;QD=0.40;ReadPosRankSum=5.91;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1351,0,137:1488:99:0|1:1191074_CAACTAGCACAACCTCTGGTCCTGGAACTACTCCCAGCCCTGTTCCCACCACCAGCACAACCTCTGCTCCTAT_C:449,4633,58887,0,51250,49949:1191074	15	0	2	3
chr11	1244628	1244628	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C7748T:p.T2583M,	.	.	416	1097	8	1	0	10	0.00453721	.	.	2806548	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.928	P	0.211	B	.	.	1.000	N	1.83	L	2.26	T	-1.086	T	0.033	T	0.067	-1.721	0.011	-5.13	-4.286	-7.141	3.075	0.036	.	0.0027	0.00339457	0.0033	0.0008	0.0017	0.0001	0.0036	0.0033	0.0022	0.0074	0.0002005	31	154602	rs202161651	0.0043	0.0043	0.0041	0.0044	0.0083	0.0042	0.0041	0.0078	0.0076	0.0012	0.0014	0.0001	0.0002	0.0035	0.0028	0.0044	0.0043	0.0083	0.0025	0.0026	0.0028	0.0023	0.0087	0.0023	0.0022	0.0066	0.0059	0.0008	0	0.0009	0	0.0002	0.0044	0	0.0035	0.0028	0.0087	0.282	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.21	0.30464	L	2.08	0.20255	T	-1.08	0.28084	N	0.039	0.01274	-1.0864	0.06155	T	0.033	0.14377	T	9	0.0048601627	0.00104	T	.	.	.	0.066	0.19193	.	.	0.043077524339	0.03247	0.22064963588145486	0.21979	.	.	0.158627107739	0.00009	T	0.02293	0.17591	T	-0.706646	0.00033	T	-0.782134	0.02390	T	0.00843831206501485	0.00102	T	0.40126	0.10220	T	0.014971489	0.00116	0.031073766	0.01645	0.014971489	0.00116	0.031073766	0.01645	-7.145	0.55086	T	.	.	0.082	0.08851	B	.	.	-0.870988	0.00975	0.039	0.4721791077749195	0.03843	0.00775	0.03189	N	AEFI	0.103928	0.20810	N	-1.86899189767816	0.00397	0.01708184	-2.14421496665236	0.00149	0.006554108	0.704444350409036	0.22741	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.56	-5.13	0.02665	-2.747000	0.00865	-20.000000	0.00162	-6.142000	0.00005	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1098:0.214:0.425:0.2512	3.075	0.05866	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	0.02381	2922.98	160	chr11	1244628	.	C	T	2922.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=3546;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=50.10;MQRankSum=3.45;QD=9.87;ReadPosRankSum=-1.425e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:178,118:296:99:2937,0,4837	20	0	1	0
chr11	1249171	1249171	G	0	exonic	MUC5B	.	.	.	.	.	465	977	67	1	12	81	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1165.22	39	chr11	1249171	.	G	A,*	1165.22	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=2.22;DP=1559;ExcessHet=1.1607;FS=9.281;InbreedingCoeff=-0.1351;MLEAC=3,2;MLEAF=0.071,0.048;MQ=52.13;MQRankSum=-6.057e+00;QD=1.63;ReadPosRankSum=1.43;SOR=1.177	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,26,0:80:99:0|1:1249152_C_G:484,0,1927,646,2004,2650:1249152	16	0	3	0
chr11	4653113	4653113	G	A	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.G587A:p.R196Q,	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.807	P	0.572	P	0.487	N	1.000	N	1.6	L	1.18	T	-0.876	T	0.087	T	0.119	1.119	9.562	-2.56	-0.557	-2.797	11.137	0.091	0.0238691412862	0.0056	0.00179712	0.0048	0.0012	0.0016	0	0.0098	0.0067	0.0066	0.0019	0.0050517	781	154602	rs139501861	0.0070	0.0070	0.0071	0.0069	0.0081	0.0069	0.0069	0.0079	0.0079	0.0011	0.0013	0.0065	0.0001	0.0092	0.0019	0.0081	0.0059	0.0021	0.0049	0.0049	0.0045	0.0053	0.0078	0.0046	0.0045	0.0072	0.0070	0.0013	0	0.0014	0.0075	0.0002	0.0095	0	0.0078	0.0047	0.0021	0.057	0.37966	T	0.075	0.42794	T	.	.	.	.	.	.	0.487404	0.05016	N	1.290730	1	0.08975	N	.	.	.	1.18	0.37746	T	-1.78	0.42001	N	0.032	0.00825	-0.8764	0.50044	T	0.087	0.33718	T	10	0.0033911765	0.00059	T	0.023869	0.46847	T	0.091	0.26358	.	.	0.0482279557977	0.04254	0.2021599151461907	0.20132	0.167758860369	0.18912	0.169836565852	0.00031	T	.	.	.	-0.629209	0.00097	T	-0.667196	0.07789	T	0.0200415568951173	0.00705	T	0.589341	0.21633	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21315	B	.	.	-0.029610	0.04083	0.955	0.94319171658207579	0.24644	0.07989	0.13970	N	AEFBI	0.207884	0.33401	N	-0.805004340397584	0.13182	0.6476195	-0.973158990064209	0.10390	0.523021	0.0013318333423527	0.08454	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	-2.56	0.05903	-3.777000	0.00415	.	.	-1.509000	0.01018	0.000000	0.06391	0.000000	0.08366	0.427000	0.27384	0.5891:0.0:0.4109:0.0	11.137	0.47604	814	0.42100	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	0.02381	2641.98	97	chr11	4653113	.	G	A	2641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.62;DP=2426;ExcessHet=0.0000;FS=1.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=0.312;SOR=0.534	GT:AD:DP:GQ:PL	0/1:82,91:173:99:2656,0,1992	20	0	1	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.72	H	6.65	T	-1.162	T	0.013	T	0.859	0.989	9.038	2.16	0.307	0.075	8.371	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3438	1921.6	129	chr11	5351792	.	C	G	1921.6	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-4.528e+00;DP=3508;ExcessHet=7.7275;FS=256.706;InbreedingCoeff=-0.4658;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.281;SOR=11.086	GT:AD:DP:GQ:PL	0/1:123,36:159:99:254,0,4067	5	0	11	5
chr11	5603391	5603391	A	T	exonic	TRIM6;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM6:NM_001003818:exon2:c.A163T:p.S55C	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	0.95	L	2.86	T	-1.088	T	0.052	T	0.563	3.450	17.68	4.39	2.198	0.889	12.232	0.190	0.0173800733463	.	.	0.0002	0.0003	8.64e-05	0	0	0.0002	0	6.056e-05	3.84e-05	1	26028	rs142243294	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	1	0.81001	D	2.175	0.60977	M	2.86	0.10482	T	-4.37	0.77717	D	0.691	0.71143	-1.0883	0.05821	T	0.052	0.22153	T	9	0.65066636	0.69584	D	0.01738	0.39055	T	0.190	0.46781	.	.	0.522664700966	0.51911	0.3168963046337906	0.31602	0.215671624619	0.31248	0.424962103367	0.28519	T	0.013389	0.11587	T	-0.323881	0.06586	T	-0.370945	0.36778	T	0.38995024561882	0.28562	T	0.965403	0.87236	D	0.45229024	0.64186	0.35049674	0.60658	0.45229024	0.64186	0.35049674	0.60658	-10.54	0.77624	D	.	.	0.286	0.56311	B	.;.;.;.;.	.;.;.;.;.	3.839464	0.55545	23.6	0.98989206598917057	0.49902	0.28153	0.23475	N	AEFBI	0.144433	0.26739	N	0.226545903980337	0.52488	3.422706	0.162254263951256	0.47794	3.004405	0.999639907107293	0.41205	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	4.39	4.39	0.52211	0.461000	0.21651	.	.	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.648000	0.32638	1.0:0.0:0.0:0.0	12.232	0.53805	809	0.43032	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;.;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	33	chr11	5603391	.	A	T	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=890;ExcessHet=0.0000;FS=0.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.707e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,69:189:99:0|1:5603391_A_T:2536,0,4831:5603391	20	0	1	0
chr11	5603392	5603392	G	T	exonic	TRIM6;TRIM6-TRIM34	.	nonsynonymous SNV	TRIM6:NM_001003818:exon2:c.G164T:p.S55I	.	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	1.0	D	0.999	D	.	.	1.000	N	-0.145	N	2.89	T	-1.021	T	0.033	T	0.393	3.000	16.01	3.45	1.388	-0.176	9.661	0.188	0.017560765288	.	.	0.0002	0.0003	8.64e-05	0	0	0.0002	0	6.056e-05	3.84e-05	1	26028	rs151130254	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	0.038	0.43708	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999991	0.58761	D	0.87	0.21467	L	2.89	0.10196	T	-5.24	0.84674	D	0.498	0.83167	-1.0210	0.23389	T	0.033	0.14247	T	9	0.24974379	0.42290	T	0.017561	0.39307	T	0.188	0.46444	.	.	0.491863012465	0.48820	0.42354617743212236	0.42271	0.219526360246	0.32972	0.446415364742	0.31454	T	0.015479	0.12979	T	-0.403353	0.02201	T	-0.485101	0.23906	T	0.192948618012954	0.20017	T	0.868613	0.57103	D	0.26041386	0.49097	0.376465	0.62768	0.26041386	0.49097	0.376465	0.62768	-9.167	0.70304	D	.	.	0.324	0.60608	B	.;.;.;.;.	.;.;.;.;.	3.929565	0.57431	23.9	0.99601675319874317	0.74219	0.15391	0.18889	N	AEFBI	0.088410	0.17924	N	-0.0234304831965027	0.40796	2.428955	-0.055435282945533	0.37256	2.178912	0.997231822598817	0.35404	0.706548	0.73137	0	0.670034	0.63936	0	0.724815	0.87919	0	0.655142	0.61905	0	.	.	4.39	3.45	0.38602	-0.015000	0.12572	.	.	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.639000	0.32395	0.0:0.0:0.6214:0.3786	9.661	0.39120	809	0.43032	RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;.;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type;RING-type zinc-finger, LisH dimerisation motif|Zinc finger, RING-type|Zinc finger, RING-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2521.98	33	chr11	5603392	.	G	T	2521.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.840e-01;DP=890;ExcessHet=0.0000;FS=0.556;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=-1.613e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,69:189:99:0|1:5603391_A_T:2536,0,4831:5603391	20	0	1	0
chr11	5603394	5603394	A	-	exonic	TRIM6;TRIM6-TRIM34	.	stopgain	TRIM6:NM_001003818:exon2:c.166delA:p.I56*	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0.0003	8.639e-05	0	0	0.0002	0	6.056e-05	.	.	.	rs750188134	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2518.94	33	chr11	5603393	.	CA	C	2518.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.000e-02;DP=887;ExcessHet=0.0000;FS=0.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.26;ReadPosRankSum=-1.554e+00;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:121,69:190:99:0|1:5603391_A_T:2533,0,4873:5603391	20	0	1	0
chr11	5603396	5603396	A	-	exonic	TRIM6;TRIM6-TRIM34	.	frameshift deletion	TRIM6:NM_001003818:exon2:c.168delA:p.I56Mfs*20	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0.0003	8.64e-05	0	0	0.0002	0	6.056e-05	.	.	.	rs756379199	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2515.94	33	chr11	5603395	.	TA	T	2515.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.03;DP=888;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.442e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,69:191:99:0|1:5603391_A_T:2530,0,4915:5603391	20	0	1	0
chr11	5603398	5603399	AC	-	exonic	TRIM6;TRIM6-TRIM34	.	frameshift deletion	TRIM6:NM_001003818:exon2:c.170_171del:p.D57Vfs*42	.	.	416	1105	1	0	0	1	0.000452284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0002	0.0003	8.64e-05	0	0	0.0002	0	6.056e-05	3.84e-05	1	26028	rs780479356	0.0007	0.0007	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	8.961e-05	6.708e-05	3.826e-05	0	0	0.0002	0.0008	0.0005	4.637e-05	0.0004	0.0004	0.0004	0.0004	0.0007	0.0003	0.0003	0.0005	0.0005	0.0001	0	0.0003	0	0	0	0	0.0007	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2515.94	33	chr11	5603397	.	GAC	G	2515.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=893;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.17;ReadPosRankSum=-1.968e+00;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,69:191:99:0|1:5603391_A_T:2530,0,4915:5603391	20	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.977	D	0.689	P	0.034	N	0.570	D	4.255	H	-0.08	T	0.418	D	0.499	T	0.685	1.906	12.33	3.23	0.271	3.583	13.827	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	1980.01	154	chr11	6200107	.	C	G	1980.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.829e+00;DP=2478;ExcessHet=4.7172;FS=120.687;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.23;ReadPosRankSum=1.61;SOR=11.011	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,27:159:99:0|1:6200107_C_G:279,0,5133:6200107	12	0	9	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.911	P	0.158	B	0.004	N	0.906	D	1.675	L	1.07	T	-0.977	T	0.081	T	0.099	1.942	12.45	5.11	2.518	-0.072	13.517	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	2170.01	155	chr11	6200109	.	C	G	2170.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.569e+00;DP=2452;ExcessHet=4.7172;FS=131.986;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.32;ReadPosRankSum=1.54;SOR=11.175	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:132,24:159:99:.:.:251,0,5152	12	0	9	0
chr11	6390705	6390711	TGCTGGC	0	exonic	SMPD1	.	.	.	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,81,0,0,0,0:81:99:.:.:2446,238,0,2446,238,2446,2446,238,2446,2446,2446,238,2446,2446,2446,2446,238,2446,2446,2446,2446	0	5	0	0
chr11	6390705	6390705	-	GGC	exonic	SMPD1	.	nonframeshift insertion	SMPD1:NM_000543:exon1:c.107_108insGGC:p.V36_L37insA	Niemann-Pick disease, type A, Autosomal recessive;Niemann-Pick disease, type B, Autosomal recessive	.	66	5	343	388	720	1839	0.991143	.	.	526543	not_specified|not_provided|Niemann-Pick_disease,_type_B|Niemann-Pick_disease,_type_A	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011871,MedGen:C0268243,OMIM:607616,Orphanet:77293|MONDO:MONDO:0009756,MedGen:C0268242,OMIM:257200,Orphanet:77292	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0063	0.0019	0.0048	0.0047	0.0086	0.0021	0.0111	0.0252	0.0046895	725	154602	rs775568984	0.0048	0.0048	0.0041	0.0055	0.0294	0.0047	0.0046	0.0284	0.0280	0.0030	0.0070	0.0053	0.0069	0.0151	0.0054	0.0022	0.0059	0.0294	0.0053	0.0052	0.0042	0.0063	0.0345	0.0050	0.0048	0.0301	0.0284	0.0029	0	0.0061	0.0041	0.0086	0.0179	0.0221	0.0024	0.0015	0.0345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	55208.52	52	chr11	6390705	.	TGCTGGC	CGCTGGC,T,*,TGGCGCTGGC,TGGCGCTGGCGCTGGC	55208.52	.	AC=23,14,2,2,1;AF=0.548,0.333,0.048,0.048,0.024;AN=42;BaseQRankSum=2.04;DP=2079;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=23,14,2,2,1;MLEAF=0.548,0.333,0.048,0.048,0.024;MQ=59.99;MQRankSum=0.00;QD=32.84;ReadPosRankSum=1.69;SOR=0.473	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,81,0,0,0,0:81:99:.:.:2446,238,0,2446,238,2446,2446,238,2446,2446,2446,238,2446,2446,2446,2446,238,2446,2446,2446,2446	0	5	0	0
chr11	6528986	6528986	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon12:c.G2212A:p.G738S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.0	B	0.0	B	.	.	1.000	N	-0.55	N	1.85	T	-0.962	T	0.022	T	0.066	-0.788	0.709	2.91	0.312	0.922	6.035	0.026	0.00354120893197	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.147e-07	6.841e-07	0	1.449e-06	9.268e-07	0	0	.	.	0	0	0	0	0	0	9.268e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.442	0.09209	T	0.476	0.12037	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.99931	0.21372	N	-0.55	0.02420	N	1.85	0.24472	T	1.4	0.00835	N	0.059	0.08786	-0.9622	0.38761	T	0.022	0.09238	T	9	0.039851397	0.02507	T	0.003541	0.08062	T	0.026	0.05648	0.413	0.45052	0.0762999501168	0.06990	0.09807553098423538	0.09738	0.115934735374	0.13078	0.240065932274	0.02796	T	0.005018	0.04451	T	-0.337655	0.05552	T	-0.722794	0.04662	T	0.0292558665522262	0.01876	T	0.339066	0.07293	T	0.018507883	0.00372	0.039172478	0.03949	0.018507883	0.00372	0.039172478	0.03949	-2.677	0.07112	T	.	.	0.079	0.07083	B	.;.	.;.	0.504845	0.08736	5.513	0.54789603799005304	0.05208	0.25739	0.22788	N	AEFBHCI	0.039574	0.05768	N	-1.31095912217947	0.03549	0.1587241	-1.16391385332563	0.06522	0.3141759	0.196653094406212	0.18068	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.3	2.91	0.32903	0.925000	0.28392	0.192000	0.15754	-1.855000	0.00567	0.704000	0.28664	0.029000	0.21193	0.047000	0.14932	0.16:0.0:0.1741:0.6659	6.035	0.18930	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	979.98	50	chr11	6528986	.	G	A	979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.460e-01;DP=1115;ExcessHet=0.0000;FS=11.935;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.33;ReadPosRankSum=1.35;SOR=0.640	GT:AD:DP:GQ:PL	0/1:23,37:60:99:994,0,572	20	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.922	P	0.583	P	.	.	1.000	N	0.895	L	-0.82	T	-0.736	T	0.305	T	0.179	1.460	10.83	4.27	2.202	2.147	12.045	0.246	0.037918526582	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.0	0.92824	D	0.922	0.51142	P	0.583	0.50264	P	.	.	.	.	0.966659	0.25884	N	2.015	0.55033	M	-0.82	0.74053	T	-1.07	0.27876	N	0.325	0.41162	-0.7361	0.58653	T	0.305	0.67547	T	9	0.36649692	0.53143	T	0.037919	0.57909	D	0.246	0.55340	0.518	0.61915	0.707650254962	0.70510	0.38322019556356207	0.38237	0.532401565123	0.50703	0.379581391811	0.22198	T	0.064	0.32320	T	-0.08036	0.39657	T	-0.353208	0.38837	T	0.574073241482542	0.35391	D	0.510949	0.16331	T	0.27499932	0.50564	0.25137228	0.50747	0.27499932	0.50564	0.25137228	0.50746	-4.843	0.35088	T	.	.	0.412	0.60243	A	.;.	.;.	2.357286	0.30230	18.37	0.98888292569358716	0.47948	0.86877	0.46256	D	AEFDBI	0.133163	0.25273	N	0.0924144595753655	0.46109	2.856479	0.0938492095698804	0.44239	2.709482	0.999997307219467	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	4.27	0.50009	2.194000	0.42301	0.078000	0.14353	0.618000	0.50648	0.991000	0.37257	0.003000	0.18671	0.944000	0.48669	0.0:0.0:1.0:0.0	12.045	0.52771	425	0.81160	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2941	723.45	41	chr11	6564079	.	G	C	723.45	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.656e+00;DP=1725;ExcessHet=6.1002;FS=193.467;InbreedingCoeff=-0.4201;MLEAC=12;MLEAF=0.353;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.74;SOR=11.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,21:64:46:.:.:46,0,681	7	0	10	4
chr11	12293628	12293628	G	A	exonic	MICALCL	.	nonsynonymous SNV	MICALCL:NM_032867:exon3:c.G197A:p.R66Q,	.	.	437	1018	62	5	0	72	0.0341556	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.0	B	0.530	N	1.000	N	-0.55	N	3.36	T	-0.917	T	0.003	T	0.056	1.156	9.708	-3.9	-0.778	-0.015	7.360	0.007	.	0.0046	0.00998403	0.0073	0.0015	0.0062	0.0242	0.0038	0.0056	0.0056	0.0110	0.0066558	1029	154602	rs148792670	0.0062	0.0062	0.0060	0.0064	0.0217	0.0061	0.0060	0.0186	0.0179	0.0008	0.0049	0.0054	0.0195	0.0027	0.0217	0.0056	0.0083	0.0099	0.0051	0.0052	0.0051	0.0052	0.0231	0.0048	0.0047	0.0197	0.0184	0.0010	0.0044	0.0056	0.0061	0.0231	0.0027	0.0170	0.0061	0.0071	0.0102	0.673	0.04521	T	0.502	0.11115	T	.	.	.	.	.	.	0.530288	0.11646	N	0.701301	1	0.08975	N	.	.	.	3.36	0.05918	T	0.25	0.04456	N	0.03	0.00717	-0.9170	0.45958	T	0.003	0.01026	T	10	0.0025303662	0.00038	T	.	.	.	0.007	0.00512	.	.	0.132336055621	0.12781	.	.	0.0162568994873	0.01562	0.216049045324	0.01094	T	.	.	.	-0.742639	0.00020	T	-0.818576	0.01482	T	0.00101569959699687	0.00010	T	0.488651	0.14976	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.18622	B	.;.	.;.	0.231460	0.06126	2.572	0.78592888275697237	0.12368	0.01101	0.04040	N	AEFDBI	0.030233	0.03004	N	-1.85835775263321	0.00417	0.0179525	-1.81897311249413	0.00700	0.03118622	0.955462753322834	0.28190	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.71	-3.9	0.03904	0.079000	0.14636	1.571000	0.27417	-0.763000	0.03499	0.079000	0.22314	0.968000	0.29604	0.003000	0.05239	0.3934:0.0:0.4217:0.1849	7.360	0.25913	906	0.23090	.;.	.	.	.	.	rs148792670	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	6833.68	34	chr11	12293628	.	G	A	6833.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.46;DP=1205;ExcessHet=0.3300;FS=0.523;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.135;SOR=0.761	GT:AD:DP:GQ:PL	0/1:73,96:169:99:2511,0,1556	18	0	3	0
chr11	12294806	12294806	-	CTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTC:p.P470_T471insP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,31,0,0,0,0:73:99:.:.:1107,1240,3001,0,1762,1668,1240,3001,1762,3001,1240,3001,1762,3001,3001,1240,3001,1762,3001,3001,3001,1240,3001,1762,3001,3001,3001,3001	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTC:p.P470_T471insPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,31,0,0,0,0:73:99:.:.:1107,1240,3001,0,1762,1668,1240,3001,1762,3001,1240,3001,1762,3001,3001,1240,3001,1762,3001,3001,3001,1240,3001,1762,3001,3001,3001,3001	6	0	4	0
chr11	12294806	12294806	-	CTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTC:p.P470_T471insPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,31,0,0,0,0:73:99:.:.:1107,1240,3001,0,1762,1668,1240,3001,1762,3001,1240,3001,1762,3001,3001,1240,3001,1762,3001,3001,3001,1240,3001,1762,3001,3001,3001,3001	6	0	4	0
chr11	12294806	12294806	-	CTCCTCCTCCTC	exonic	MICALCL	.	nonframeshift insertion	MICALCL:NM_032867:exon3:c.1375_1376insCTCCTCCTCCTC:p.P470_T471insPPPP,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,31,0,0,0,0:73:99:.:.:1107,1240,3001,0,1762,1668,1240,3001,1762,3001,1240,3001,1762,3001,3001,1240,3001,1762,3001,3001,3001,1240,3001,1762,3001,3001,3001,3001	6	0	4	0
chr11	12294798	12294806	CTCCTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1367_1375del:p.P468_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0140	.	0.0027	0.0050	0.0026	0.0015	0.0007	0.0029	0.0042	0.0020	0.0005379	14	26028	rs761605598	0.0069	0.0073	0.0069	0.0069	0.0141	0.0068	0.0067	0.0130	0.0126	0.0141	0.0080	0.0114	0.0007	0.0005	0.0089	0.0070	0.0088	0.0060	0.0111	0.0096	0.0115	0.0106	0.0238	0.0106	0.0104	0.0222	0.0215	0.0238	0	0.0146	0.0137	0.0013	0.0009	0.0324	0.0073	0.0091	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,31,0,0,0,0:73:99:.:.:1107,1240,3001,0,1762,1668,1240,3001,1762,3001,1240,3001,1762,3001,3001,1240,3001,1762,3001,3001,3001,1240,3001,1762,3001,3001,3001,3001	6	0	4	0
chr11	12294801	12294806	CTCCTC	-	exonic	MICALCL	.	nonframeshift deletion	MICALCL:NM_032867:exon3:c.1370_1375del:p.P469_P470del,	.	.	406	730	54	33	299	419	0.0759494	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	23983.92	69	chr11	12294797	.	GCTCCTCCTC	GCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTC,GCTCCTCCTCCTCCTCCTCCTC,G,GCTC	23983.92	.	AC=5,5,5,4,1,1;AF=0.119,0.119,0.119,0.095,0.024,0.024;AN=42;BaseQRankSum=-2.500e-02;DP=2391;ExcessHet=0.5132;FS=1.240;InbreedingCoeff=0.1429;MLEAC=5,5,5,4,1,1;MLEAF=0.119,0.119,0.119,0.095,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=25.43;ReadPosRankSum=0.813;SOR=0.827	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:42,0,31,0,0,0,0:73:99:.:.:1107,1240,3001,0,1762,1668,1240,3001,1762,3001,1240,3001,1762,3001,3001,1240,3001,1762,3001,3001,3001,1240,3001,1762,3001,3001,3001,3001	6	0	4	0
chr11	12294842	12294842	A	0	exonic	MICALCL	.	.	.	.	.	612	397	355	151	7	664	0.452791	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	20646.17	38	chr11	12294842	.	A	C,*	20646.17	.	AC=13,3;AF=0.382,0.088;AN=34;BaseQRankSum=1.48;DP=1943;ExcessHet=0.0321;FS=0.000;InbreedingCoeff=0.1821;MLEAC=15,3;MLEAF=0.441,0.088;MQ=59.98;MQRankSum=0.00;QD=20.18;ReadPosRankSum=1.33;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,52,0:105:99:.:.:1418,0,1635,1578,1792,3420	6	2	6	4
chr11	13009910	13009910	C	A	exonic	RASSF10	.	nonsynonymous SNV	RASSF10:NM_001080521:exon1:c.C334A:p.R112S,	.	.	429	1088	5	0	0	5	0.00229253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0	0.0007	0	0	0.0002	0.0050	0.0011	0.0001811	28	154602	rs765590615	0.0002	0.0002	0.0001	0.0002	0.0016	0.0002	0.0001	0.0013	0.0012	3.005e-05	4.631e-05	0	0	0	0.0016	8.77e-05	0.0001	0.0015	0.0001	0.0001	7.708e-05	0.0001	0.0025	7.086e-05	5.743e-05	0.0014	0.0011	4.809e-05	0	0	0	0	0	0	4.411e-05	0	0.0025	.	.	.	0.003	0.76473	D	0.999	0.77913	D	0.923	0.65830	D	.	.	.	.	.	.	.	1.61	0.41143	L	.	.	.	.	.	.	0.728	0.72925	.	.	.	.	.	.	.	0.26250854	0.43720	T	.	.	.	.	.	.	.	0.198526703765	0.19489	0.7705942584205676	0.77008	.	.	0.888641774654	0.95090	D	0.262485	0.63406	T	-0.00677467	0.50715	T	0.176959	0.81820	D	.	.	.	0.956054	0.83312	D	0.34937754	0.57018	0.46655196	0.69049	0.34937754	0.57019	0.46655196	0.69049	-8.328	0.63284	D	.	.	0.991	0.93824	P	.	.	5.114446	0.85514	28.6	0.96561173223563168	0.30261	0.85660	0.44817	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999999999999967	0.74766	0.169504	0.03952	1	0.166317	0.03975	0	0.182222	0.04375	1	0.166187	0.04126	0	0.951054	0.62114	4.74	4.74	0.59717	0.309000	0.19094	4.809000	0.45027	0.456000	0.21511	0.986000	0.36153	1.000000	0.68203	0.992000	0.67800	0.1772:0.8228:0.0:0.0	11.700	0.50831	898	0.25240	Ras-associating (RA) 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	0.02381	1850.98	34	chr11	13009910	.	C	A	1850.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.499;DP=1080;ExcessHet=0.0000;FS=2.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.10;ReadPosRankSum=0.163;SOR=0.537	GT:AD:DP:GQ:PL	0/1:79,74:153:99:1865,0,1934	20	0	1	0
chr11	19933298	19933298	G	A	exonic	NAV2	.	nonsynonymous SNV	NAV2:NM_145117:exon7:c.G1054A:p.G352S	.	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.006	N	1.000	N	-0.6	N	1.97	T	-0.974	T	0.021	T	0.14	-1.046	0.199	1.6	0.042	1.360	8.598	0.014	0.00636725984743	0.0008	0.000199681	0.0006	9.647e-05	0.0004	0	0	0.0010	0.0011	6.483e-05	0.0005369	83	154602	rs61751935	0.0003	0.0004	0.0003	0.0004	0.0021	0.0003	0.0003	0.0012	0.0009	8.966e-05	0.0003	0.0092	2.519e-05	0	0.0021	0.0002	0.0010	4.642e-05	0.0005	0.0005	0.0004	0.0005	0.0012	0.0004	0.0004	0.0008	0.0006	4.814e-05	0	0.0012	0.0104	0	0	0.0034	0.0002	0.0019	0	1.0	0.03028	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.005689	0.32589	N	0.266923	1	0.08975	N	-0.77	0.01674	N	1.86	0.24285	T	0.62	0.02442	N	0.078	0.05287	-0.9738	0.36387	T	0.021	0.08963	T	9	0.003708452	0.00068	T	0.006367	0.16754	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.18773614742035613	0.18691	0.153836466492	0.17363	0.297144085169	0.09977	T	0.002176	0.23072	T	-0.516582	0.00460	T	-0.665552	0.07896	T	0.0031254572798086	0.00033	T	0.868313	0.57669	D	0.018966805	0.00421	0.033411786	0.02231	0.018966805	0.00421	0.033411786	0.02231	-1.606	0.02099	T	.	.	0.076	0.06896	B	.;.;.;.;.;.	.;.;.;.;.;.	0.125784	0.05223	1.731	0.61013024566939189	0.06604	0.43020	0.27006	N	AEFDBI	0.126706	0.24377	N	-1.18335365076087	0.05251	0.238959	-1.06325659623643	0.08433	0.4146112	0.998960811274131	0.38084	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.56	1.6	0.22686	1.378000	0.33935	0.613000	0.20051	-0.127000	0.13314	0.869000	0.30776	0.040000	0.21562	0.063000	0.16184	0.546:0.0:0.454:0.0	8.598	0.32889	896	0.25515	.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1903.98	34	chr11	19933298	.	G	A	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=899;ExcessHet=0.0000;FS=0.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=0.050;SOR=0.746	GT:AD:DP:GQ:PL	0/1:102,76:178:99:1918,0,2538	20	0	1	0
chr11	20156428	20156428	G	T	exonic	DBX1	.	nonsynonymous SNV	DBX1:NM_001029865:exon4:c.C818A:p.P273H,	.	.	411	1109	2	0	0	2	0.000900901	.	.	2203609	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.051	B	0.063	B	0.000	N	1.000	N	0.69	N	0.12	T	-0.198	T	0.608	D	0.085	2.604	14.67	4.41	1.219	5.626	14.935	0.246	0.195057641391	.	.	2.266e-05	0	0	0	0	4.232e-05	0	0	1.29e-05	2	154602	rs200861778	3.3e-05	3.352e-05	3.691e-05	2.905e-05	0.0021	2.556e-05	2.26e-05	0.0012	0.0009	0	0	0	0	1.914e-05	0.0021	2.887e-05	4.993e-05	0	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	0.009	0.57480	D	0.005	0.72224	D	.	.	.	.	.	.	0.000358	0.45440	N	0.196807	0.999755	0.20482	N	1.1	0.28011	L	-3.0	0.92158	D	-1.55	0.37566	N	0.184	0.19995	-0.1984	0.77712	T	0.608	0.86106	D	10	0.23827279	0.40944	T	0.195058	0.86398	D	0.246	0.55340	.	.	0.903187140748	0.90222	0.1710529522990921	0.17025	.	.	0.464155584574	0.33879	T	0.091775	0.38867	T	-0.139937	0.29902	T	-0.294378	0.45316	T	0.375911235809326	0.28025	T	0.630337	0.24523	T	0.12759034	0.29852	0.22584955	0.47544	0.12759034	0.29852	0.22584955	0.47543	-4.958	0.36381	T	.	.	0.089	0.11989	B	.	.	1.895978	0.24081	16.26	0.99360643165538576	0.60987	0.96575	0.69827	D	AEFDBHI	0.671883	0.63848	D	-0.374206032374212	0.26391	1.439992	-0.30668554077688	0.27883	1.550377	0.999999999066266	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.33	4.41	0.52588	5.739000	0.68261	4.234000	0.42669	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.025000	0.12405	0.0:0.0:0.8556:0.1444	14.935	0.70592	934	0.15400	.	.	.	.	.	.	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	0.02381	1019.98	34	chr11	20156428	.	G	T	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.964e+00;DP=772;ExcessHet=0.0000;FS=1.699;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=-2.660e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/1:43,48:91:99:1034,0,1095	20	0	1	0
chr11	31789914	31789915	TT	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729_730del:p.K244Gfs*7	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/2:21,0,15,10:51:99:353,448,1018,0,607,624,146,600,301,481	0	0	0	0
chr11	31789915	31789915	T	-	exonic	PAX6	.	frameshift deletion	PAX6:NM_001368929:exon9:c.729delA:p.K244Rfs*29	Aniridia, Autosomal dominant;Anterior segment dysgenesis 5, multiple subtypes;Cataract with late-onset corneal dystrophy, Autosomal dominant;Foveal hypoplasia 1, Autosomal dominant;Keratitis, Autosomal dominant;Optic nerve hypoplasia, Autosomal dominant	.	5	30	45	6	140	197	0.487179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8623.07	44	chr11	31789912	.	CTTT	C,CT,CTT	8623.07	.	AC=4,9,18;AF=0.095,0.214,0.429;AN=42;BaseQRankSum=0.737;DP=1820;ExcessHet=7.7275;FS=2.324;InbreedingCoeff=-0.3548;MLEAC=4,9,18;MLEAF=0.095,0.214,0.429;MQ=59.99;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.919;SOR=0.976	GT:AD:DP:GQ:PL	0/2:21,0,15,10:51:99:353,448,1018,0,607,624,146,600,301,481	0	0	0	0
chr11	34916677	34916677	G	T	exonic	PDHX	.	nonsynonymous SNV	PDHX:NM_001166158:exon1:c.G22T:p.G8C	Lacticacidemia due to PDX1 deficiency, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	1417734	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.938	P	0.498	P	0.000	D	1.000	N	.	.	1.93	T	-0.976	T	0.122	T	0.546	4.702	26.1	3.29	0.732	0.211	11.735	0.156	0.0362893049858	.	.	9.384e-05	0	0.0002	0	0	3.102e-05	0	0.0004	7.12e-05	11	154602	rs778248643	5.484e-05	5.883e-05	3.683e-05	7.302e-05	0.0006	4.486e-05	4.155e-05	0.0005	0.0004	2.989e-05	6.708e-05	0	0	0	0.0004	1.439e-05	8.295e-05	0.0006	1.969e-05	1.968e-05	0	4.027e-05	0.0002	5.24e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.005	0.68238	D	0.007	0.74150	D	0.938	0.52538	P	0.498	0.47596	P	0.000048	0.53742	D	0.161766	0.99991	0.51042	D	2.095	0.58118	M	1.93	0.38883	T	-2.66	0.69357	D	0.386	0.47580	-0.9756	0.35993	T	0.122	0.42272	T	9	0.13705611	0.26074	T	0.036289	0.56894	D	0.156	0.40720	.	.	0.581692290366	0.57840	0.7258147240065734	0.72525	0.281412569002	0.30616	0.402329206467	0.25394	T	0.321983	0.69303	T	-0.289902	0.09647	T	-0.332235	0.41220	T	0.17789214479454	0.19101	T	0.779322	0.42389	T	0.41673133	0.61874	0.3520637	0.60790	0.41673133	0.61874	0.3520637	0.60790	-4.147	0.25980	T	.	.	0.142	0.39081	B	.;.;.	.;.;.	2.714167	0.35483	19.91	0.99672948587355048	0.78717	0.14265	0.18311	N	ALL	0.118233	0.23128	N	-0.110034208342864	0.36956	2.143225	-0.190355393707094	0.31890	1.809029	0.999999999999643	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	5.21	3.29	0.36801	0.266000	0.18300	2.057000	0.30374	0.586000	0.30580	0.227000	0.24611	0.986000	0.30841	0.581000	0.30918	0.0:0.3592:0.6407:0.0	11.735	0.51028	724	0.55085	.;.;.	.	.	.	.	.	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	0.04762	2087.11	77	chr11	34916677	.	G	T	2087.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.561;DP=1552;ExcessHet=0.1072;FS=1.929;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.57;ReadPosRankSum=0.218;SOR=0.852	GT:AD:DP:GQ:PL	0/1:44,45:89:99:1102,0,1186	19	0	2	0
chr11	46307885	46307885	C	G	exonic	CREB3L1	.	nonsynonymous SNV	CREB3L1:NM_052854:exon3:c.C401G:p.P134R,	.	.	390	1128	4	0	0	4	0.00176991	.	.	1362048	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.929	P	0.692	P	0.005	N	0.864	N	1.1	L	0.86	T	-1.009	T	0.114	T	0.294	3.729	18.94	1.3	0.548	0.984	5.253	0.073	0.00874951949956	.	.	7.272e-05	0	0	0	0	0.0002	0	0	4.53e-05	7	154602	rs774972826	3.293e-05	3.557e-05	2.915e-05	3.679e-05	0.0018	2.538e-05	2.274e-05	0.0010	0.0007	0	7.47e-05	0	0	0	0.0018	2.283e-05	0.0002	0	7.226e-05	7.219e-05	8.998e-05	5.373e-05	8.822e-05	3.97e-05	3.126e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0.0136	8.822e-05	0.0005	0	0.051	0.39334	T	0.446	0.49120	T	0.929	0.51690	P	0.692	0.53862	P	0.004953	0.33236	N	0.196007	0.86429	0.28307	N	1.955	0.52871	M	0.86	0.46777	T	-2.13	0.48354	N	0.315	0.35514	-1.0092	0.27167	T	0.114	0.40605	T	10	0.19225132	0.34946	T	0.00875	0.23099	T	0.073	0.21317	.	.	0.574600906166	0.57128	0.28553723545877224	0.28466	.	.	0.387070417404	0.23256	T	0.112688	0.42916	T	-0.253369	0.13687	T	-0.454395	0.27213	T	0.554850399494171	0.34660	D	0.689931	0.33447	T	0.06466032	0.13740	0.045214232	0.06035	0.06466032	0.13740	0.045214232	0.06035	-6.451	0.49907	T	.	.	0.102	0.18080	B	.;.	.;.	2.418270	0.31091	18.64	0.99712615651783043	0.81423	0.92200	0.55168	D	AEFDBHI	0.428524	0.49202	N	0.0781819544560718	0.45445	2.801014	0.0614239926235139	0.42628	2.581648	0.998978483070414	0.38110	0.741868	0.97996	0	0.633656	0.55848	0	0.774882	0.98623	0	0.604944	0.38103	0	.	.	4.79	1.3	0.20778	0.989000	0.29229	0.552000	0.19430	-0.171000	0.11205	0.996000	0.39380	0.048000	0.21764	0.967000	0.53440	0.0:0.4829:0.0:0.5171	5.253	0.14847	167	0.93508	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	312.98	38	chr11	46307885	.	C	G	312.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.253;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.43;ReadPosRankSum=-2.500e-01;SOR=0.722	GT:AD:DP:GQ:PL	0/1:16,14:30:99:327,0,370	20	0	1	0
chr11	48145025	48145025	A	G	exonic	PTPRJ	.	nonsynonymous SNV	PTPRJ:NM_002843:exon14:c.A2812G:p.I938V,	Colon cancer, somatic	.	1	1516	5	0	0	5	0.00164636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.603	P	0.293	B	.	.	0.999	N	1.79	L	2.6	T	-1.033	T	0.034	T	0.155	3.457	17.71	2.93	0.870	2.691	4.386	0.031	0.00600387375256	.	0.000199681	0.0001	0	0.0003	0	0	0.0001	0	0.0002	9.06e-05	14	154602	rs539798846	5.267e-05	5.267e-05	4.356e-05	6.188e-05	0.0019	4.277e-05	3.952e-05	0.0011	0.0008	0	0.0002	0	0	0	0.0019	3.867e-05	0.0001	4.637e-05	5.912e-05	5.906e-05	6.427e-05	5.374e-05	0.0002	3.076e-05	2.209e-05	1.972e-05	1.124e-05	0	0	0	0	0	0	0.0136	5.88e-05	0	0.0002	0.065	0.36310	T	0.123	0.42614	T	0.603	0.39389	P	0.293	0.40773	B	.	.	.	.	1	0.08975	N	2.015	0.55033	M	2.6	0.13204	T	-0.73	0.20576	N	0.222	0.33687	-1.0328	0.19554	T	0.034	0.14813	T	9	0.070658684	0.10310	T	0.006004	0.15668	T	0.031	0.07369	0.357	0.35897	0.443999229985	0.44019	0.2925253744392469	0.29165	0.591894902042	0.54610	0.462259232998	0.33620	T	0.067974	0.48855	T	-0.424028	0.01613	T	-0.56215	0.16175	T	0.094302196925153	0.11718	T	0.731327	0.34690	T	0.033185277	0.03488	0.05544008	0.09725	0.0315177	0.03006	0.049141	0.07446	-4.723	0.33681	T	.	.	0.097	0.25592	B	.;.;.	.;.;.	2.753101	0.36087	20.2	0.98643767222501355	0.44082	0.50557	0.28690	D	AEFGBI	0.146486	0.26995	N	-0.0561968654104077	0.39326	2.317271	-0.0601032316342794	0.37056	2.164605	0.963908118140179	0.28723	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.4	2.93	0.33092	3.074000	0.49763	.	.	0.756000	0.94297	0.971000	0.34370	0.999000	0.35428	0.983000	0.59808	0.7358:0.0:0.0925:0.1717	4.386	0.10748	137	0.94565	Fibronectin type III;Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1633.98	41	chr11	48145025	.	A	G	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=928;ExcessHet=0.0000;FS=0.700;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.73;ReadPosRankSum=0.082;SOR=0.809	GT:AD:DP:GQ:PL	0/1:60,59:119:99:1648,0,1510	20	0	1	0
chr11	56375950	56375950	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	653.59	237	chr11	56375950	.	A	G,*	653.59	.	AC=2,17;AF=0.048,0.405;AN=42;BaseQRankSum=5.82;DP=5436;ExcessHet=36.0830;FS=3.202;InbreedingCoeff=-0.8261;MLEAC=2,17;MLEAF=0.048,0.405;MQ=60.00;MQRankSum=0.00;QD=0.13;ReadPosRankSum=-1.131e+00;SOR=1.028	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:237,0,68:305:99:0|1:56375918_A_G:2142,2855,12807,0,9952,9747:56375918	2	0	2	0
chr11	56375951	56375951	T	0	exonic	OR8U1;OR8U8	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	440.62	237	chr11	56375951	.	T	G,*	440.62	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.55;DP=5427;ExcessHet=36.0830;FS=3.220;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.09;ReadPosRankSum=-1.200e+00;SOR=1.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:237,0,68:305:99:0|1:56375918_A_G:2142,2855,12807,0,9952,9747:56375918	1	0	3	1
chr11	56375953	56375953	A	0	exonic	OR8U1;OR8U8	.	.	.	.	.	429	642	47	0	404	451	0.0353118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	822.68	237	chr11	56375953	.	A	T,*	822.68	.	AC=3,16;AF=0.075,0.400;AN=40;BaseQRankSum=3.15;DP=5417;ExcessHet=36.0830;FS=3.217;InbreedingCoeff=-0.8667;MLEAC=3,16;MLEAF=0.075,0.400;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=-4.650e-01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:237,0,68:305:99:0|1:56375918_A_G:2142,2855,12807,0,9952,9747:56375918	1	0	3	1
chr11	56412815	56412815	A	G	exonic	OR5AL1	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.848e-05	2.545e-05	2.475e-05	3.211e-05	0.0001	1.283e-05	8.6e-06	5.06e-06	2.4e-06	0.0001	0	0	0	0	0	1.902e-05	0.0002	0	6.573e-06	6.566e-06	1.286e-05	0	2.407e-05	0	0	.	.	2.407e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.09524	330.15	47	chr11	56412815	.	A	G	330.15	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-3.272e+00;DP=1901;ExcessHet=0.6776;FS=88.232;InbreedingCoeff=-0.1093;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=1.46;SOR=10.239	GT:AD:DP:GQ:PL	0/1:105,21:126:95:95,0,2634	17	0	4	0
chr11	58624310	58624310	G	A	exonic	CNTF	.	nonsynonymous SNV	CNTF:NM_000614:exon2:c.G391A:p.E131K,	.	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.872	P	0.556	P	.	.	0.915	N	2.015	M	1.25	T	-0.962	T	0.125	T	0.357	3.484	17.82	5.48	2.575	2.047	10.380	0.102	0.0156769220911	.	0.000399361	0.0003	0	8.658e-05	0	0	0.0001	0	0.0019	0.0002846	44	154602	rs202082223	0.0002	0.0002	0.0002	0.0003	0.0040	0.0002	0.0002	0.0027	0.0023	2.987e-05	0.0001	3.826e-05	0	5.616e-05	0.0040	9.982e-05	0.0003	0.0017	0.0001	0.0001	0.0001	0.0001	0.0019	7.591e-05	6.293e-05	0.0010	0.0007	0	0	0	0	0.0002	0	0	0.0001	0.0005	0.0019	0.072	0.34982	T	0.225	0.25514	T	0.872	0.47902	P	0.556	0.49411	P	.	.	.	.	0.915232	0.27418	N	2.4	0.69460	M	1.25	0.36512	T	-1.6	0.38540	N	0.17	0.18103	-0.9621	0.38781	T	0.125	0.43049	T	9	0.019503176	0.00436	T	0.015677	0.36546	T	0.102	0.29158	.	.	0.696112660581	0.69349	0.27168748576247176	0.27081	0.168020938621	0.18945	0.434865087271	0.29874	T	0.251565	0.62184	T	-0.422948	0.01638	T	-0.387575	0.34836	T	0.0783024345760878	0.09768	T	0.835616	0.50622	T	0.38231814	0.59484	0.3192124	0.57884	0.38231814	0.59484	0.3192124	0.57883	-4.388	0.29394	T	.	.	0.144	0.31733	B	.	.	3.809875	0.54942	23.5	0.9987914352735181	0.95572	0.74187	0.36288	D	AEFBCI	0.102726	0.20599	N	0.397614660401001	0.61293	4.328381	0.418474032510477	0.62716	4.491794	0.999967803469381	0.48965	0.460665	0.09802	0	0.577304	0.33150	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	5.48	5.48	0.80675	2.142000	0.41802	8.694000	0.78086	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.918000	0.45347	0.0893:0.0:0.9107:0.0	10.380	0.43287	635	0.64580	.	.	.	.	.	.	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	0.04762	4307.11	36	chr11	58624310	.	G	A	4307.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.69;DP=995;ExcessHet=0.1072;FS=2.490;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.41;ReadPosRankSum=0.625;SOR=0.843	GT:AD:DP:GQ:PL	0/1:83,68:151:99:1956,0,2253	19	0	2	0
chr11	60767632	60767632	G	A	exonic	MS4A15	.	nonsynonymous SNV	MS4A15:NM_152717:exon2:c.G46A:p.V16I	.	.	407	1105	10	0	0	10	0.0045045	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.102	B	0.072	B	0.010	N	1.000	N	0.095	N	4.34	T	-0.965	T	0.004	T	0.109	1.420	10.69	2.75	1.052	1.994	3.860	0.059	.	0.0037	0.00399361	0.0047	0.0003	0.0025	0.0011	0.0161	0.0099	0.0114	0.0001	0.0028654	443	154602	rs76307175	0.0066	0.0065	0.0067	0.0066	0.0076	0.0065	0.0065	0.0075	0.0074	0.0009	0.0055	0.0016	0.0005	0.0089	0.0070	0.0076	0.0056	0.0003	0.0059	0.0059	0.0054	0.0064	0.0085	0.0056	0.0054	0.0079	0.0077	0.0013	0.0099	0.0073	0.0014	0.0015	0.0104	0.0136	0.0085	0.0071	0	0.798	0.15823	T	0.211	0.26631	T	0.102	0.25827	B	0.072	0.28043	B	0.009907	0.30147	N	0.320649	1	0.81001	D	0.315	0.10303	N	4.34	0.02341	T	-0.06	0.07882	N	0.248	0.28381	-0.9654	0.38132	T	0.004	0.01159	T	10	0.014348596	0.00302	T	.	.	.	0.059	0.16972	.	.	0.0297737177859	0.01360	0.15485182601025066	0.15406	0.150298648537	0.16954	0.479286491871	0.35959	T	0.010633	0.09586	T	-0.621139	0.00108	T	-0.654611	0.08633	T	0.00923317184378616	0.00117	T	0.535446	0.19565	T	0.042698316	0.06523	0.06437436	0.12892	0.042698316	0.06523	0.06437436	0.12891	-1.88	0.02759	T	.	.	0.078	0.08705	B	.;.	.;.	2.954998	0.39332	20.9	0.99187109999221479	0.54848	0.36800	0.25616	N	AEFBHCI	0.030623	0.03118	N	-0.436530154682734	0.24198	1.304967	-0.290202360697401	0.28421	1.584525	0.999999961931459	0.74766	0.59774	0.34471	0	0.600433	0.49495	0	0.596394	0.31383	0	0.63947	0.58350	0	.	.	4.93	2.75	0.31439	2.651000	0.46338	6.857000	0.56753	0.590000	0.31872	0.992000	0.37556	1.000000	0.68203	0.651000	0.32720	0.1587:0.2552:0.5861:0.0	3.860	0.08500	754	0.51307	.;.	.	.	.	.	.	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	0.02381	513.98	37	chr11	60767632	.	G	A	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=819;ExcessHet=0.0000;FS=4.237;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.051;SOR=1.414	GT:AD:DP:GQ:PL	0/1:29,20:49:99:528,0,644	20	0	1	0
chr11	61258794	61258794	C	T	exonic	VWCE	.	nonsynonymous SNV	VWCE:NM_152718:exon20:c.G2749A:p.G917R,	.	.	413	1085	22	2	0	26	0.0118397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.244	N	1.000	N	-0.9	N	3.95	T	-0.996	T	0.043	T	0.157	-1.110	0.134	-2.62	-0.673	-0.584	5.514	0.027	0.0213806881925	0.0023	0.000798722	0.0021	0.0007	0.0009	0	0.0014	0.0021	0.0051	0.0076	0.0018823	291	154602	rs142539738	0.0021	0.0020	0.0019	0.0022	0.0082	0.0020	0.0020	0.0077	0.0074	0.0003	0.0015	5.155e-05	2.637e-05	0.0010	0.0076	0.0019	0.0020	0.0082	0.0017	0.0017	0.0015	0.0020	0.0075	0.0015	0.0015	0.0056	0.0049	0.0005	0	0.0039	0	0	0.0010	0	0.0019	0.0024	0.0075	1.0	0.00964	T	0.81	0.03945	T	0.0	0.02946	B	0.0	0.01387	B	0.244416	0.15642	N	0.529823	1	0.08975	N	-1.04	0.01097	N	0.11	0.61208	T	0.15	0.07736	N	0.062	0.06190	-0.9956	0.31136	T	0.043	0.18326	T	10	0.0057477653	0.00128	T	0.021381	0.44139	T	0.027	0.05988	0.185	0.09388	0.0138822411134	0.00435	0.10397906329037991	0.10327	0.242934635108	0.26798	0.276284873486	0.06980	T	0.007926	0.11716	T	-0.543212	0.00320	T	-0.548076	0.17511	T	0.000437647545597456	0.00003	T	0.528347	0.21082	T	0.03351433	0.03585	0.044080954	0.05631	0.028741755	0.02257	0.032279015	0.01938	-4.528	0.31253	T	.	.	0.087	0.11220	B	.;.;.	.;.;.	-0.737363	0.01236	0.063	0.27469530425493982	0.01365	0.00244	0.01352	N	AEFDBI	0.024243	0.01470	N	-1.87386442473662	0.00388	0.01669312	-1.82512283341602	0.00682	0.03034974	0.207515988317215	0.18199	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.579976	0.35079	0	.	.	4.81	-2.62	0.05793	-0.304000	0.08238	-0.777000	0.07471	-1.675000	0.00794	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1691:0.2695:0.5614	5.514	0.16188	546	0.72524	.;.;.	.	.	.	.	.	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	0.02381	837.98	33	chr11	61258794	.	C	T	837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.231;DP=775;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-1.334e+00;SOR=0.631	GT:AD:DP:GQ:PL	0/1:29,36:65:99:852,0,618	20	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.984	D	0.956	D	0.000	D	1.000	D	1.895	L	1.75	T	-0.929	T	0.147	T	0.816	4.674	25.8	4.41	2.173	9.720	17.371	0.359	0.0303838687175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.20078	T	0.084	0.41239	T	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.085	0.57729	M	1.75	0.26152	T	-1.66	0.39692	N	0.801	0.79696	-0.9294	0.44227	T	0.147	0.47183	T	10	0.85639554	0.84838	D	0.030384	0.52709	D	0.359	0.67962	0.717	0.85230	0.332276917938	0.32835	0.6045569509805981	0.60386	1.38609513779	0.84885	0.863340735435	0.91603	D	0.126602	0.45309	T	0.100887	0.64389	D	-0.0928586	0.63945	T	0.953071773052216	0.63941	D	0.949005	0.80370	D	0.34753636	0.56875	0.27692467	0.53642	0.34753636	0.56876	0.27692467	0.53641	-9.454	0.70572	D	.	.	0.932	0.85229	P	.	.	5.079334	0.84758	28.4	0.99721849654714378	0.82125	0.99768	0.99325	D	AEFBI	0.892349	0.82920	D	0.710803035018918	0.80340	7.272851	0.681479095580318	0.80974	7.419648	0.999999999989603	0.74766	0.651	0.46895	0	0.547309	0.14657	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	9.852000	0.98385	11.590000	0.93399	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	17.371	0.87267	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4	7460.77	117	chr11	61740527	.	G	C	7460.77	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.620e+00;DP=2290;ExcessHet=20.9642;FS=238.697;InbreedingCoeff=-0.6474;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=0.887;SOR=12.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,36:113:99:0|1:61740527_G_C:672,0,2161:61740527	4	0	16	1
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.948	P	0.588	P	0.000	D	1.000	D	1.5	L	1.82	T	-1.071	T	0.080	T	0.919	3.976	20.4	4.41	1.764	6.186	13.945	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	11271.74	121	chr11	61740531	.	T	C	11271.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.350e+00;DP=2360;ExcessHet=54.0936;FS=275.616;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.98;ReadPosRankSum=0.649;SOR=13.232	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,36:113:99:0|1:61740527_G_C:671,0,2182:61740527	0	0	21	0
chr11	62520312	62520312	G	A	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.C14105T:p.A4702V	.	.	425	1095	2	0	0	2	0.000912409	.	.	2335184	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	1.0	D	0.945	D	0.160	N	1.000	N	1.495	L	5.84	T	-0.689	T	0.007	T	0.096	1.215	9.931	-10.3	-1.675	-0.860	32.545	0.204	0.0851551582648	7.7e-05	.	9.06e-05	9.612e-05	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs371832611	8.209e-05	8.209e-05	8.167e-05	8.25e-05	0.0003	7.002e-05	6.552e-05	0.0002	0.0002	5.974e-05	2.236e-05	0	0.0003	0	0	9.262e-05	1.656e-05	0	0.0001	0.0001	0.0001	0.0001	0.0002	7.189e-05	5.928e-05	9.103e-05	7.052e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.035	0.43708	D	0.051	0.47828	T	1.0	0.90584	D	0.945	0.68163	D	0.159662	0.17703	N	0.550337	1	0.08975	N	1.675	0.43121	L	5.84	0.00647	T	-2.37	0.52289	N	0.14	0.13911	-0.6885	0.60978	T	0.007	0.02558	T	10	0.14036164	0.26680	T	0.085155	0.74475	D	0.204	0.49076	.	.	0.117506650769	0.11410	0.14045437473127548	0.13968	0.177633600203	0.19989	0.283997356892	0.08056	T	0.241456	0.60999	T	-0.542931	0.00322	T	-0.699586	0.05848	T	0.0892224802631266	0.11124	T	0.693931	0.30359	T	0.048192907	0.08360	0.09507461	0.22533	0.048192907	0.08359	0.09507461	0.22533	-7.459	0.57322	T	.	.	0.294	0.52516	B	.	.	1.230860	0.16258	12.42	0.87891184041234593	0.17558	0.10478	0.15974	N	AEFBI	.	.	.	-1.6108658880133	0.01211	0.05266546	-1.8832793971892	0.00528	0.02341202	0.999934583444545	0.46732	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	5.16	-10.3	0.00281	-1.290000	0.02886	.	.	-0.185000	0.09859	0.000000	0.06391	0.000000	0.08366	0.017000	0.10941	0.0:0.8986:0.1014:0.0	32.545	0.99999	219	0.91485	.	.	.	.	.	.	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	1	0	0	0	0.02381	5745.98	46	chr11	62520312	.	G	A	5745.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.805;DP=1382;ExcessHet=0.0000;FS=0.525;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.05;ReadPosRankSum=0.441;SOR=0.617	GT:AD:DP:GQ:PL	0/1:189,220:409:99:5760,0,4587	20	0	1	0
chr11	62521506	62521506	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A12911G:p.D4304G	.	.	431	1088	3	0	0	3	0.00137678	.	.	724521	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.39	T	0.999	D	0.996	D	0.001	D	1.000	D	3.005	M	1.34	T	-0.781	T	0.080	T	0.131	1.973	12.55	5.11	1.930	3.418	14.651	0.210	.	0.0112	0.0123802	0.0032	0.0356	0.0006	0	0	0.0001	0.0011	0	0.0030724	475	154602	rs11828907	0.0010	0.0010	0.0011	0.0008	0.0347	0.0009	0.0009	0.0330	0.0324	0.0347	0.0010	0	0	0	0.0029	7.104e-05	0.0018	8.115e-05	0.0091	0.0091	0.0093	0.0089	0.0319	0.0087	0.0085	0.0305	0.0299	0.0319	0	0.0025	0	0	0	0.0035	0.0002	0.0072	0	0.138	0.25873	T	0.008	0.67890	D	0.999	0.77913	D	0.996	0.84481	D	0.000677	0.42516	D	0.000000	0.998848	0.81001	D	2.56	0.74772	M	1.34	0.34841	T	-3.82	0.71997	D	0.295	0.33360	-0.7815	0.56218	T	0.080	0.31675	T	10	0.0069776773	0.00159	T	.	.	.	0.210	0.50028	.	.	0.402755899245	0.39889	0.1679004457766482	0.16710	0.149780803388	0.16892	0.31705442071	0.12975	T	0.574012	0.85942	D	-0.526257	0.00404	T	-0.502248	0.22114	T	0.0463517932978614	0.04848	T	0.785321	0.42297	T	0.13358858	0.31066	0.19790882	0.43597	0.13358858	0.31066	0.19790882	0.43596	-10.644	0.77670	D	.	.	0.147	0.32396	B	.	.	2.568543	0.33279	19.29	0.99619670569308538	0.75353	0.97318	0.73996	D	AEFBI	.	.	.	0.489428604720896	0.66469	4.954419	0.380460933184982	0.60360	4.222784	0.999751961741005	0.42595	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.11	5.11	0.69188	3.204000	0.50785	.	.	-0.143000	0.12349	0.989000	0.36753	0.000000	0.08366	0.006000	0.07323	0.0:0.0:0.0:1.0	14.651	0.68402	219	0.91485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3918.98	46	chr11	62521506	.	T	C	3918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.457e+00;DP=1313;ExcessHet=0.0000;FS=13.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.283;SOR=0.968	GT:AD:DP:GQ:PL	0/1:145,150:295:99:3933,0,3981	20	0	1	0
chr11	62575658	62575658	G	C	exonic	TUT1	.	nonsynonymous SNV	TUT1:NM_022830:exon9:c.C2061G:p.D687E,	.	.	396	1123	3	0	0	3	0.00133393	.	.	724532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.23	T	0.002	B	0.003	B	0.486	N	1.000	N	0.695	N	1.39	T	-1.063	T	0.012	T	0.015	-1.853	0.009	-9.98	-2.020	-3.604	7.364	0.036	.	0.0119	0.0131789	0.0035	0.0391	0.0007	0	0	0.0002	0.0011	6.056e-05	0.0033699	521	154602	rs34320415	0.0011	0.0011	0.0012	0.0009	0.0389	0.0010	0.0010	0.0372	0.0365	0.0389	0.0012	0	0	0	0.0031	5.755e-05	0.0020	0.0001	0.0099	0.0099	0.0102	0.0096	0.0347	0.0095	0.0093	0.0332	0.0326	0.0347	0	0.0029	0	0	0	0.0034	0.0002	0.0071	0	0.586	0.05881	T	0.658	0.06554	T	0.001	0.09854	B	0.003	0.08700	B	0.485557	0.05006	N	1.265930	1	0.08975	N	1.32	0.33002	L	1.37	0.34253	T	0.07	0.06138	N	0.052	0.05670	-1.0628	0.11069	T	0.012	0.04605	T	10	0.0017508566	0.00022	T	.	.	.	0.036	0.09122	0.155	0.05858	0.193865811164	0.18958	0.05511174877733182	0.05452	0.202735499337	0.22694	0.286004006863	0.08344	T	0.016765	0.13794	T	-0.726631	0.00025	T	-0.787256	0.02241	T	0.00187375558026153	0.00019	T	0.471653	0.14010	T	0.039410494	0.05437	0.0278855	0.00977	0.03139869	0.02972	0.028870465	0.01164	-2.201	0.04045	T	0.10756032468440896	0.08770	0.11	0.21201	B	.;.	.;.	-2.086312	0.00083	0.001	0.49940567481740616	0.04297	0.05595	0.11499	N	AEFBCI	0.078710	0.15886	N	-1.65512642777168	0.01013	0.04394067	-1.7713591762101	0.00855	0.03821758	0.999999999953252	0.74766	0.660085	0.49399	0	0.685571	0.66316	0	0.662677	0.59975	0	0.638787	0.57140	0	.	.	5.53	-9.98	0.00361	-1.830000	0.01793	.	.	-1.032000	0.01689	0.000000	0.06391	0.000000	0.08366	0.065000	0.16320	0.232:0.0:0.4653:0.3027	7.364	0.25933	176	0.93188	.;.	.	.	.	.	.	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	0.02381	2396.98	34	chr11	62575658	.	G	C	2396.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=923;ExcessHet=0.0000;FS=7.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=-7.400e-02;SOR=0.660	GT:AD:DP:GQ:PL	0/1:119,97:216:99:2411,0,2876	20	0	1	0
chr11	63902699	63902699	C	T	exonic	MARK2	.	nonsynonymous SNV	MARK2:NM_001039469:exon13:c.C1333T:p.R445W	.	.	413	1108	1	0	0	1	0.00045106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.993	D	0.080	N	0.998	D	2.47	M	1.41	T	0.056	D	0.517	D	0.53	1.041	9.253	3.86	1.225	3.109	11.788	0.235	0.58210167637	.	.	8.281e-06	0	0	0	0	0	0	6.068e-05	6.5e-06	1	154602	rs771721301	1.231e-05	1.3e-05	1.497e-05	9.626e-06	0.0003	7.7e-06	6.35e-06	6.111e-05	2.528e-05	2.987e-05	0	0	0	0	0.0003	9.892e-06	1.656e-05	3.478e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	4.826e-05	5.24e-06	2.45e-06	8e-06	2.99e-06	4.826e-05	0	0	0	0	0	0	1.47e-05	0	0	0.001	0.78490	D	0.003	0.83351	D	0.955	0.90584	P	0.821	0.81110	P	0.079705	0.20968	N	0.476592	0.998257	0.44686	D	2.625	0.76847	M	-0.72	0.72994	T	-3.65	0.83157	D	0.329	0.37613	0.056	0.83358	D	0.517	0.81932	D	10	0.37592006	0.53830	T	0.582102	0.96259	D	0.235	0.53788	0.276	0.22845	0.70608209329	0.70352	0.4325383737449389	0.43170	1.58952772393	0.88501	0.693645119667	0.66230	T	0.682871	0.90705	D	0.00644191	0.52540	T	-0.131669	0.60832	T	0.82231193780899	0.47945	D	0.989623	0.96588	D	0.1741119	0.38197	0.21548826	0.46140	0.1741119	0.38197	0.21548826	0.46139	-7.407	0.58164	T	.	.	0.294	0.56799	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.225711	0.87713	29.3	0.99056202673763716	0.51367	0.95279	0.64106	D	AEFGBI	0.529304	0.55047	D	0.16517154261819	0.49533	3.152573	0.0949305360846327	0.44294	2.713892	0.549978400919878	0.21325	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.79	3.86	0.43689	4.014000	0.56857	3.270000	0.37153	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.220000	0.22462	0.3178:0.6822:0.0:0.0	11.788	0.51324	404	0.82510	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1394.98	37	chr11	63902699	.	C	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=854;ExcessHet=0.0000;FS=1.462;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-1.100e-02;SOR=0.867	GT:AD:DP:GQ:PL	0/1:59,60:119:99:1409,0,1239	20	0	1	0
chr11	64556184	64556184	C	G	exonic	SLC22A11	.	nonsynonymous SNV	SLC22A11:NM_001307985:exon1:c.C185G:p.T62R	.	.	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.228	B	0.088	B	0.585	U	1.000	N	-0.145	N	2.43	T	-0.988	T	0.017	T	0.182	-0.453	1.902	-3.83	-0.610	-0.461	3.702	0.016	.	.	0.00419329	0.0022	0	0	0	0	1.499e-05	0	0.0164	0.0019728	305	154602	rs200043601	0.0009	0.0009	0.0005	0.0012	0.0139	0.0008	0.0008	0.0133	0.0130	8.961e-05	2.236e-05	0	2.519e-05	0	0.0003	8.093e-06	0.0010	0.0139	0.0005	0.0005	0.0003	0.0007	0.0153	0.0004	0.0004	0.0125	0.0115	0.0001	0	0	0	0	0	0	1.47e-05	0.0005	0.0153	0.525	0.07772	T	0.575	0.09393	T	0.008	0.16609	B	0.002	0.13708	B	0.585490	0.05560	U	1.418460	1	0.08975	N	-0.305	0.03614	N	2.43	0.15261	T	-0.84	0.28703	N	0.089	0.12341	-0.9877	0.33175	T	0.017	0.06950	T	10	0.0038828254	0.00074	T	.	.	.	0.016	0.02506	0.582	0.70861	0.0806252709748	0.07271	0.35573798932375766	0.35487	0.220647704067	0.24609	0.285391807556	0.08255	T	0.011713	0.13597	T	-0.677333	0.00050	T	-0.732745	0.04204	T	0.00557494759337126	0.00061	T	0.452755	0.14510	T	0.052059	0.09652	0.050	0.07868	0.052059	0.09651	0.050	0.07868	-4.152	0.26053	T	.	.	0.076	0.06525	B	.;.;.	.;.;.	-0.643639	0.01456	0.089	0.2287985185618607	0.00941	0.01007	0.03804	N	AEFBI	0.042274	0.06537	N	-1.49175041720052	0.01908	0.08372123	-1.54314617453346	0.02023	0.09248042	0.999541380433053	0.40300	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-3.83	0.03988	-1.156000	0.03270	-6.328000	0.01430	-1.005000	0.01788	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.247:0.3036:0.3654:0.084	3.702	0.07916	394	0.83065	.;.;.	.	.	.	.	.	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	0.02381	2226.98	43	chr11	64556184	.	C	G	2226.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.882;DP=884;ExcessHet=0.0000;FS=0.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.219;SOR=0.765	GT:AD:DP:GQ:PL	0/1:86,85:171:99:2241,0,2155	20	0	1	0
chr11	64840600	64840600	G	A	exonic	CDC42BPG	.	nonsynonymous SNV	CDC42BPG:NM_017525:exon4:c.C385T:p.R129C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.981	D	0.001	D	1.000	D	1.78	L	1.76	T	-0.924	T	0.146	T	0.54	4.716	26.2	4.92	2.645	7.773	16.402	0.360	0.0297065564168	.	.	1.653e-05	9.653e-05	0	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs746634700	8.894e-06	8.893e-06	6.807e-06	1.1e-05	0.0001	4.96e-06	3.82e-06	3.982e-05	2.373e-05	0.0001	0	0	0.0001	0	0	2.698e-06	0	2.319e-05	6.568e-06	6.566e-06	1.284e-05	0	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.981	0.75168	D	0.000763	0.41888	D	0.106705	0.999999	0.58761	D	1.895	0.50365	L	1.76	0.25996	T	-5.38	0.84954	D	0.537	0.56489	-0.9242	0.44971	T	0.146	0.47021	T	10	0.6508458	0.69593	D	0.029707	0.52165	D	0.360	0.68052	0.555	0.67271	0.632608894576	0.62959	0.4846487668740961	0.48384	0.889176038593	0.70138	0.489107847214	0.37314	T	0.171432	0.51955	T	-0.137322	0.30318	T	-0.253502	0.49470	T	0.985004425048828	0.76130	D	0.981135	0.93511	D	0.44307062	0.63600	0.4789873	0.69821	0.44307062	0.63601	0.4789873	0.69821	-8.116	0.61859	D	.	.	0.101	0.17657	B	.	.	5.187758	0.86995	29.1	0.99943517431105033	0.99848	0.97261	0.73647	D	AEFDGBI	0.893962	0.83244	D	0.749071154009479	0.82844	7.864268	0.718057451030431	0.83753	8.104444	0.999999999999998	0.74766	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.604944	0.38103	0	.	.	4.92	4.92	0.64147	8.088000	0.89344	9.792000	0.81650	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.073000	0.16832	0.0:0.0:1.0:0.0	16.402	0.83482	304	0.87780	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	2103.98	37	chr11	64840600	.	G	A	2103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.563;DP=951;ExcessHet=0.0000;FS=1.213;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.587;SOR=0.804	GT:AD:DP:GQ:PL	0/1:87,85:172:99:2118,0,2156	20	0	1	0
chr11	65583129	65583129	G	-	exonic	EHBP1L1	.	frameshift deletion	EHBP1L1:NM_001099409:exon9:c.2457delG:p.T821Pfs*4,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.676e-05	0	0	6.06e-05	0.0011	0.0012	0.0001153	3	26028	rs769320510	0.0003	0.0003	0.0002	0.0003	0.0014	0.0003	0.0003	0.0012	0.0011	2.987e-05	6.71e-05	0.0003	0	1.883e-05	0.0007	0.0002	0.0002	0.0014	0.0001	0.0001	9.014e-05	0.0002	0.0012	8.188e-05	6.741e-05	0.0005	0.0004	2.416e-05	0	6.548e-05	0	0	0	0	0.0001	0.0005	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1685.94	38	chr11	65583128	.	TG	T	1685.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.130e-01;DP=1560;ExcessHet=0.0000;FS=2.182;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.438;SOR=0.525	GT:AD:DP:GQ:PL	0/1:72,61:133:99:1700,0,2000	20	0	1	0
chr11	66020351	66020351	G	A	exonic	CATSPER1	.	nonsynonymous SNV	CATSPER1:NM_053054:exon8:c.C2030T:p.A677V,	Spermatogenic failure 7, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.937	P	0.433	B	0.006	U	0.897	N	1.04	L	-4.36	D	0.318	D	0.776	D	0.216	2.846	15.48	3.09	2.391	3.163	5.935	0.408	0.173412364556	.	.	4.12e-05	0	0	0	0	0	0	0.0003	3.23e-05	5	154602	rs773724360	1.026e-05	1.026e-05	2.723e-06	1.788e-05	0.0001	6.16e-06	4.89e-06	7.123e-05	5.481e-05	0	4.472e-05	0	0	0	0	1.799e-06	0	0.0001	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.04	0.42199	D	0.163	0.31125	T	0.937	0.52445	P	0.433	0.45477	B	0.006427	0.32040	U	0.000000	0.897189	0.27771	N	2.015	0.55033	M	-4.36	0.97317	D	-2.31	0.51319	N	0.243	0.27435	0.318	0.87835	D	0.776	0.92384	D	10	0.36417174	0.52969	T	0.173412	0.85011	D	0.408	0.72022	.	.	0.977750182443	0.97750	0.5289204530791524	0.52816	0.837158818036	0.67860	0.45185482502	0.32197	T	0.618915	0.88027	D	-0.092142	0.37721	T	-0.110453	0.62575	T	0.368849635124207	0.27753	T	0.735226	0.35154	T	0.12294356	0.28878	0.17087056	0.39228	0.12294356	0.28878	0.17087056	0.39228	-6.576	0.50869	T	.	.	0.231	0.46401	B	.	.	4.215206	0.63719	24.6	0.99904775721894745	0.97576	0.68210	0.33716	D	AEFDGBI	0.177026	0.30425	N	0.143526250410326	0.48507	3.062024	0.141130551278349	0.46675	2.909596	0.99999689603135	0.74766	0.600919	0.35232	0	0.610034	0.51514	0	0.547309	0.15389	0	0.620204	0.46100	0	.	.	5.14	3.09	0.34677	3.218000	0.50894	8.379000	0.77063	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.380000	0.26335	0.0994:0.0:0.712:0.1886	5.935	0.18398	207	0.91931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1314.98	38	chr11	66020351	.	G	A	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.990e-01;DP=1004;ExcessHet=0.0000;FS=1.560;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-7.720e-01;SOR=0.513	GT:AD:DP:GQ:PL	0/1:56,52:108:99:1329,0,1429	20	0	1	0
chr11	66744819	66744819	-	GGCGGCGGCGGC	exonic	C11orf80	.	nonframeshift insertion	C11orf80:NM_024650:exon1:c.77_78insGGCGGCGGCGGC:p.A34_G35insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0016	0	0.0263	0	.	0.0018	0	0.0009	0.0001682	26	154602	rs567536854	0.0073	0.0075	0.0073	0.0073	0.0076	0.0072	0.0071	0.0075	0.0074	0.0029	0.0051	0.0060	0.0063	0.0104	0.0035	0.0076	0.0060	0.0026	0.0074	0.0075	0.0078	0.0071	0.0102	0.0071	0.0069	0.0088	0.0086	0.0037	0.0022	0.0072	0.0079	0.0102	0.0097	0	0.0094	0.0117	0.0038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	25402.44	33	chr11	66744819	.	G	GGGC,GGGCGGC,GGGCGGCGGCGGC	25402.44	.	AC=18,3,1;AF=0.429,0.071,0.024;AN=42;BaseQRankSum=-1.780e-01;DP=1238;ExcessHet=1.0911;FS=0.000;InbreedingCoeff=0.0455;MLEAC=18,3,1;MLEAF=0.429,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=27.88;ReadPosRankSum=-4.000e-02;SOR=0.747	GT:AD:DP:GQ:PL	1/1:1,38,1,0:40:73:1715,79,0,1600,73,1628,1683,121,1640,1716	5	4	8	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.001	B	0.006	B	0.000	D	1.000	D	0.6	N	-1.49	T	-0.718	T	0.281	T	0.218	1.574	11.22	5.54	2.603	6.822	12.661	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3	1346.63	65	chr11	66863811	.	C	T	1346.63	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-4.038e+00;DP=2406;ExcessHet=9.6308;FS=147.397;InbreedingCoeff=-0.4216;MLEAC=12;MLEAF=0.300;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.76;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:79,32:111:85:.:.:85,0,1268	8	0	12	1
chr11	67522571	67522571	C	T	exonic	CABP2	.	nonsynonymous SNV	CABP2:NM_001318496:exon2:c.G202A:p.G68S	Deafness, autosomal recessive 93, Autosomal recessive	.	33	1472	16	1	0	18	0.00607698	.	.	444872	not_specified|Autosomal_recessive_nonsyndromic_hearing_loss_93|CABP2-related_disorder|not_provided	MedGen:CN169374|MONDO:MONDO:0013963,MedGen:C3888355,OMIM:614899,Orphanet:90636|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.13	T	0.007	B	0.002	B	0.075	N	1.000	N	1.04	L	-0.7	T	-0.933	T	0.184	T	0.1	4.403	23.3	2.56	0.485	0.992	7.280	0.097	.	0.0048	0.000998403	0.0062	0.0023	0.0043	0.0014	0.0066	0.0102	0.0097	0.0033	0.0026584	411	154602	rs149431491	0.0057	0.0055	0.0057	0.0056	0.0062	0.0055	0.0055	0.0061	0.0060	0.0008	0.0017	0.0072	0.0033	0.0055	0.0044	0.0062	0.0052	0.0033	0.0039	0.0039	0.0041	0.0037	0.0057	0.0037	0.0035	0.0052	0.0051	0.0011	0.0219	0.0030	0.0066	0.0012	0.0039	0	0.0057	0.0033	0.0035	0.081	0.33418	T	0.057	0.46406	T	0.007	0.14184	B	0.002	0.06944	B	0.075243	0.02295	N	2.460050	1	0.81001	D	2.135	0.59519	M	-0.7	0.72785	T	-0.87	0.23590	N	0.136	0.13341	-0.9332	0.43665	T	0.184	0.53315	T	10	0.004790902	0.00101	T	.	.	.	0.097	0.27909	.	.	0.699979934741	0.69738	0.5352010225378678	0.53445	0.308797066295	0.33188	0.548922657967	0.45706	T	0.010193	0.09229	T	-0.483985	0.00701	T	-0.464819	0.26076	T	0.0141817241496034	0.00279	T	0.947205	0.79675	D	0.0847475	0.19628	0.066538766	0.13643	0.0796144	0.18197	0.06384177	0.12705	-3.873	0.21898	T	0.1747609890563113	0.22213	0.210	0.43707	B	.	.	3.764909	0.54042	23.4	0.99900904096595378	0.97275	0.26533	0.23020	N	AEFDBI	0.119447	0.23313	N	-0.505153510821562	0.21912	1.166393	-0.416290752821905	0.24519	1.343094	2.69972215534057E-5	0.03498	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.51	2.56	0.29842	0.686000	0.25072	3.092000	0.36283	0.599000	0.40250	0.002000	0.15269	1.000000	0.68203	0.999000	0.91618	0.0:0.7357:0.1697:0.0946	7.280	0.25478	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	0.02381	1199.98	36	chr11	67522571	.	C	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=788;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.850e-01;SOR=0.557	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1214,0,1036	20	0	1	0
chr11	68933827	68933827	C	T	exonic	IGHMBP2	.	nonsynonymous SNV	IGHMBP2:NM_002180:exon10:c.C1451T:p.T484M,	Charcot-Marie-Tooth disease, axonal, type 2S, Autosomal recessive;Neuronopathy, distal hereditary motor, type VI, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	640414	Autosomal_recessive_distal_spinal_muscular_atrophy_1|Charcot-Marie-Tooth_disease_axonal_type_2S|not_provided	MONDO:MONDO:0011436,MedGen:C1858517,OMIM:604320,Orphanet:98920|MONDO:MONDO:0014511,MedGen:C4015349,OMIM:616155,Orphanet:443073|MedGen:CN517202	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.997	D	0.001	D	1.000	D	2.375	M	-3.06	D	0.902	D	0.859	D	0.606	3.045	16.16	4.73	2.168	7.072	14.654	0.636	0.369786927219	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1170552394	2.191e-05	2.189e-05	3.134e-05	1.239e-05	0.0002	1.586e-05	1.357e-05	1.627e-05	1.383e-05	2.99e-05	2.244e-05	0	0	0	0.0002	2.339e-05	3.319e-05	1.165e-05	2.63e-05	2.627e-05	3.856e-05	1.347e-05	7.243e-05	8.15e-06	5.14e-06	1.921e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	1.47e-05	0	0	0.011	0.55530	D	0.002	0.79402	D	1.0	0.90584	D	0.997	0.86255	D	0.000790	0.41772	D	0.217938	0.999999	0.58761	D	2.17	0.60663	M	-3.06	0.92457	D	-4.54	0.78472	D	0.742	0.74189	0.902	0.95705	D	0.859	0.95312	D	10	0.8618667	0.85410	D	0.369787	0.92718	D	0.636	0.86078	0.271	0.22052	0.964217623183	0.96383	0.7165529046099998	0.71598	0.768364881018	0.64644	0.591371178627	0.51687	T	0.674228	0.90364	D	0.12028	0.66400	D	0.017862	0.71491	D	0.918406471139502	0.57665	D	0.948005	0.79945	D	0.6326134	0.74437	0.542944	0.73582	0.6326134	0.74438	0.542944	0.73583	-8.973	0.67523	D	0.8419603622042284	0.91026	0.353	0.56754	A	.	.	4.691120	0.75173	26.3	0.99888943386504947	0.96359	0.99585	0.97709	D	AEFDBI	0.765065	0.70167	D	0.605601653917732	0.73526	5.980932	0.500300464865258	0.68012	5.161593	0.999999992846048	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	4.73	4.73	0.59485	7.144000	0.76943	7.406000	0.58608	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:1.0:0.0:0.0	14.654	0.68425	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1728.98	35	chr11	68933827	.	C	T	1728.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.967;DP=846;ExcessHet=0.0000;FS=1.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=0.150;SOR=0.850	GT:AD:DP:GQ:PL	0/1:46,68:114:99:1743,0,994	20	0	1	0
chr11	70798550	70798550	C	T	exonic	SHANK2	.	nonsynonymous SNV	SHANK2:NM_001379226:exon4:c.G533A:p.S178N	.	.	0	1508	14	0	0	14	0.00462046	.	.	2813475	SHANK2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.11	T	0.997	D	0.99	D	0.000	U	1.000	D	2.055	M	3.0	T	-1.149	T	0.054	T	0.21	4.215	21.9	4.44	2.016	5.177	14.004	0.145	0.0309722428644	0.0028	0.00339457	0.0039	0.0033	0.0073	0	0	0.0054	0.0052	0.0029	0.0009573	148	154602	rs141184740	0.0027	0.0024	0.0027	0.0027	0.0093	0.0026	0.0025	0.0075	0.0070	0.0087	0.0049	0.0123	0	4.082e-05	0.0093	0.0018	0.0060	0.0028	0.0037	0.0037	0.0037	0.0038	0.0069	0.0035	0.0034	0.0059	0.0055	0.0062	0	0.0069	0.0124	0	0	0.0068	0.0019	0.0114	0.0021	.	.	.	0.042	0.50226	D	0.997	0.70673	D	0.99	0.78936	D	0.000066	0.52346	U	0.073330	0.969965	0.38764	D	.	.	.	3.0	0.09167	T	.	.	.	0.686	0.69213	-1.1491	0.01052	T	0.054	0.22883	T	10	0.01044476	0.00232	T	0.030972	0.53161	D	.	.	.	.	0.353785824208	0.34994	.	.	.	.	0.851025700569	0.89770	D	.	.	.	-0.543089	0.00321	T	-0.549439	0.17381	T	0.0192810455869317	0.00634	T	0.90091	0.65583	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.889	0.82028	P	.	.	4.483212	0.69966	25.5	0.99492766276178901	0.67573	0.90012	0.50864	D	AEFDBI	0.721112	0.67146	D	0.603761567431857	0.73412	5.961941	0.554669799547695	0.71721	5.698465	0.523376809360585	0.21115	0.562547	0.31514	0	0.547309	0.14657	0	0.608884	0.39905	0	0.613276	0.41899	0	.	.	4.44	4.44	0.53164	5.394000	0.66031	7.254000	0.57939	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	14.004	0.63967	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	1	0	0	0	0	0	0	0.02381	1903.98	35	chr11	70798550	.	C	T	1903.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.720e-01;DP=826;ExcessHet=0.0000;FS=1.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-1.356e+00;SOR=0.828	GT:AD:DP:GQ:PL	0/1:66,76:142:99:1918,0,1651	20	0	1	0
chr11	73311051	73311051	C	G	exonic	ARHGEF17	.	nonsynonymous SNV	ARHGEF17:NM_014786:exon1:c.C2413G:p.Q805E,	.	.	417	1084	20	1	0	22	0.0100457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.081	B	0.007	B	0.054	N	0.998	N	0.695	N	0.49	T	-0.993	T	0.098	T	0.197	0.652	7.496	4.41	2.280	2.780	9.807	0.060	.	0.0002	0.00319489	0.0019	0	0.0002	0	0	0.0001	0.0022	0.0133	0.0016753	259	154602	rs146497753	0.0009	0.0009	0.0005	0.0013	0.0137	0.0009	0.0008	0.0131	0.0128	2.987e-05	0.0001	0	0	0	0.0031	5.576e-05	0.0008	0.0137	0.0004	0.0004	0.0002	0.0006	0.0106	0.0003	0.0003	0.0083	0.0074	2.406e-05	0	0	0	0	0	0	2.941e-05	0.0005	0.0106	0.007	0.59928	D	0.036	0.52060	D	0.081	0.24602	B	0.007	0.12992	B	0.053518	0.22802	N	0.370462	0.998278	0.22253	N	1.61	0.41143	L	0.49	0.55775	T	-0.38	0.13418	N	0.274	0.31027	-0.9934	0.31722	T	0.098	0.36600	T	10	0.0047130883	0.00099	T	.	.	.	0.060	0.17295	.	.	0.450326921165	0.44653	0.180490145819556	0.17968	0.448488106829	0.44675	0.330097079277	0.14949	T	0.010495	0.09475	T	-0.458662	0.01002	T	-0.419288	0.31157	T	0.0291780304111627	0.01865	T	0.772323	0.40326	T	0.18583928	0.39965	0.15137646	0.35662	0.18583928	0.39965	0.15137646	0.35661	-3.249	0.13088	T	.	.	0.070	0.03407	B	.	.	3.313446	0.45536	22.1	0.97018756912290371	0.32018	0.79887	0.39677	D	AEFDGBI	.	.	.	-0.192599689152137	0.33441	1.897307	-0.047469029488281	0.37599	2.203716	0.999998881283067	0.74766	0.722319	0.85440	0	0.586065	0.33999	0	0.673471	0.61138	0	0.735409	0.98432	0	.	.	4.41	4.41	0.52588	2.804000	0.47628	5.983000	0.52202	0.597000	0.34315	0.997000	0.40164	1.000000	0.68203	0.984000	0.60418	0.3162:0.6838:0.0:0.0	9.807	0.39967	631	0.64944	.	.	.	.	.	.	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	0.02381	963.98	44	chr11	73311051	.	C	G	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.998e+00;DP=918;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.36;ReadPosRankSum=0.689;SOR=0.641	GT:AD:DP:GQ:PL	0/1:60,43:103:99:978,0,1812	20	0	1	0
chr11	76403854	76403854	G	A	exonic	GVQW3	.	nonsynonymous SNV	GVQW3:NM_001282456:exon2:c.G577A:p.E193K,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	.	.	.	.	-0.967	T	0.112	T	0.096	1.413	10.66	0.597	0.567	0.364	.	0.023	0.00107702933649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.666e-06	4.771e-06	7.994e-06	0	6.37e-06	6.1e-07	2.3e-07	1.06e-06	4e-07	0	0	0	0	0	0	6.37e-06	0	0	6.572e-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	0.028	0.46129	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.41	0.14000	N	0.156	0.16168	-0.9665	0.37914	T	0.112	0.40122	T	4	0.09746534	0.17554	T	0.001077	0.01263	T	0.023	0.04649	0.448	0.50793	0.0551355673512	0.04727	0.03143348784525808	0.03092	.	.	.	.	.	0.009447	0.08603	T	-0.250605	0.14023	T	-0.597753	0.13001	T	0.163366657570791	0.18117	T	0.466353	0.13696	T	0.20989902	0.43271	0.16432722	0.38072	0.20989902	0.43271	0.16432722	0.38071	-3.566	0.17367	T	.	.	0.091	0.12938	B	.	.	0.240901	0.06213	2.662	0.980534102618704	0.37890	0.00796	0.03248	N	AEFGBI	0.040092	0.05916	N	-0.580515053116512	0.19536	1.023282	-0.793557721324458	0.14652	0.7667258	6.2600981009044E-5	0.04366	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.586402	0.36253	0	.	.	0.597	0.597	0.16685	0.365000	0.20076	-0.000000	0.13247	0.373000	0.20310	0.141000	0.23520	0.015000	0.20450	0.040000	0.14268	.	.	.	865	0.32612	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1426.98	34	chr11	76403854	.	G	A	1426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.121;DP=802;ExcessHet=0.0000;FS=2.553;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-6.490e-01;SOR=0.446	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1441,0,1333	20	0	1	0
chr11	78658455	78658455	C	T	exonic	TENM4	.	nonsynonymous SNV	TENM4:NM_001098816:exon34:c.G7913A:p.R2638Q,	Tremor, hereditary essential, 5, Autosomal dominant	.	410	1100	12	0	0	12	0.00542495	.	.	713201	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	0.056	B	0.002	B	0.005	N	0.670	N	0.565	N	-2.56	D	-0.702	T	0.201	T	0.039	2.091	12.95	1.79	0.189	1.604	10.344	0.210	.	0.0090	0.00838658	0.0025	0.0270	0.0011	0	0	4.503e-05	0.0045	0.0007	0.0023027	356	154602	rs114100394	0.0009	0.0009	0.0010	0.0008	0.0284	0.0008	0.0008	0.0269	0.0263	0.0284	0.0015	0	2.519e-05	0	0.0017	5.576e-05	0.0019	0.0009	0.0080	0.0080	0.0084	0.0076	0.0276	0.0076	0.0074	0.0262	0.0257	0.0276	0	0.0026	0	0	0	0	4.41e-05	0.0071	0.0021	0.154	0.24277	T	0.263	0.22828	T	0.056	0.22806	B	0.002	0.06944	B	0.004591	0.33588	N	0.278896	0.669511	0.30377	N	1.295	0.32453	L	-2.56	0.89627	D	-2.21	0.49684	N	0.07	0.04307	-0.7017	0.60357	T	0.201	0.55808	T	9	0.0059633255	0.00134	T	.	.	.	0.210	0.50028	.	.	0.171220215726	0.16700	0.5295324240796673	0.52877	0.321092760271	0.34309	0.299288809299	0.10294	T	0.141502	0.47659	T	-0.467294	0.00884	T	-0.423062	0.30724	T	0.0128188771572929	0.00218	T	0.919108	0.70849	D	0.08047666	0.18442	0.09065464	0.21270	0.07546693	0.17005	0.078033574	0.17441	-4.002	0.23834	T	0.15004466785233314	0.17594	0.071	0.04041	B	.	.	2.462151	0.31724	18.83	0.98517297516095348	0.42422	0.80198	0.39900	D	AEFDBI	0.259949	0.37819	N	-0.533603068262594	0.21001	1.111298	-0.364913360588209	0.26051	1.436527	0.0326965178305814	0.14067	0.615465	0.37627	0	0.563428	0.19063	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	1.79	0.23992	1.772000	0.38182	1.735000	0.28356	-0.191000	0.09375	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.7456:0.0:0.2544	10.344	0.43077	880	0.29376	.	.	.	.	.	.	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	0.02381	2230.98	35	chr11	78658455	.	C	T	2230.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.45;DP=885;ExcessHet=0.0000;FS=7.299;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.12;ReadPosRankSum=0.518;SOR=1.001	GT:AD:DP:GQ:PL	0/1:96,88:184:99:2245,0,2484	20	0	1	0
chr11	83225048	83225048	T	A	exonic	ANKRD42	.	nonsynonymous SNV	ANKRD42:NM_001300972:exon6:c.T780A:p.D260E	.	.	442	1074	5	1	0	7	0.00324826	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	B	0.057	B	0.006	N	1.000	N	1.155	L	2.41	T	-1.036	T	0.029	T	0.193	0.517	6.802	5.23	1.959	0.652	6.294	0.037	0.00747496267257	7.7e-05	.	0.0002	0	0	0	0	3.026e-05	0.0022	0.0013	0.0001746	27	154602	rs143071836	0.0001	0.0001	7.911e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	0	6.725e-05	7.669e-05	0	0	0.0010	2.702e-05	0.0001	0.0018	5.918e-05	5.908e-05	2.572e-05	9.418e-05	0.0012	3.079e-05	2.212e-05	0.0005	0.0004	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0012	0.308	0.17643	T	0.943	0.09931	T	0.081	0.24602	B	0.017	0.18140	B	0.005829	0.32475	N	0.218284	0.969756	0.25738	N	1.79	0.46772	L	2.41	0.15492	T	-1.42	0.34992	N	0.094	0.10198	-1.0363	0.18450	T	0.029	0.12541	T	9	0.027549297	0.00899	T	0.007475	0.19819	T	0.037	0.09474	0.364	0.37036	0.472982741448	0.46926	0.07182555690820777	0.07119	0.127038506119	0.14318	0.331278532743	0.15128	T	0.01914	0.15304	T	-0.554011	0.00276	T	-0.598654	0.12925	T	0.0255836470005992	0.01350	T	0.550145	0.18957	T	0.07057652	0.15557	0.04573222	0.06218	0.07057652	0.15556	0.04573222	0.06217	-7.616	0.58422	D	.	.	0.091	0.18456	B	.;.;.;.	.;.;.;.	1.339068	0.17456	13.17	0.78018407278316571	0.12121	0.62655	0.31847	D	AEFI	0.088496	0.17940	N	-0.25156253415284	0.31042	1.736679	-0.11197521751383	0.34907	2.013271	4.57068096603988E-4	0.07036	0.638212	0.43195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.23	5.23	0.72570	0.355000	0.19902	0.401000	0.18000	0.665000	0.62972	0.998000	0.41325	0.999000	0.35428	0.758000	0.36073	0.1569:0.0:0.1632:0.6799	6.294	0.20283	562	0.71143	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|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	0	0	0	0	0	0	0	0	0	0	0	0.04762	1520.11	33	chr11	83225048	.	T	A	1520.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.809;DP=782;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.08;ReadPosRankSum=1.05;SOR=0.703	GT:AD:DP:GQ:PL	0/1:23,21:44:99:497,0,513	19	0	2	0
chr11	94618061	94618061	G	C	exonic	PIWIL4	.	nonsynonymous SNV	PIWIL4:NM_152431:exon17:c.G2122C:p.V708L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.924	P	0.649	P	0.001	D	0.906	D	1.1	L	1.33	T	-1.000	T	0.090	T	0.504	2.394	13.96	4.98	1.502	4.230	10.392	0.204	0.0106759789857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.076	0.34269	T	0.222	0.35840	T	0.924	0.51285	P	0.649	0.52426	P	0.000584	0.43095	D	0.099013	0.906029	0.36289	D	1.565	0.39561	L	1.33	0.35031	T	-1.68	0.46337	N	0.5	0.53269	-0.9999	0.29945	T	0.090	0.34436	T	10	0.60332495	0.67035	D	0.010676	0.27493	T	0.204	0.49076	0.676	0.81398	0.550418665841	0.54699	0.6398381622521458	0.63918	0.501449785389	0.48529	0.506306290627	0.39706	T	0.083303	0.37024	T	-0.0843602	0.39003	T	-0.358954	0.38173	T	0.838701367378235	0.49222	D	0.919808	0.78939	D	0.10559078	0.24966	0.147185	0.34841	0.10559078	0.24965	0.147185	0.34840	-5.331	0.40249	T	.	.	0.240	0.52459	B	.;.	.;.	2.332110	0.29874	18.26	0.99387829687996976	0.62202	0.97874	0.77779	D	AEFI	0.667277	0.63546	D	0.172925259269668	0.49901	3.185565	0.207008071808128	0.50237	3.217776	0.397544557011528	0.20101	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.89	4.98	0.65679	4.761000	0.61939	5.425000	0.48576	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.304000	0.24594	0.1517:0.0:0.8483:0.0	10.392	0.43358	793	0.45818	Piwi domain|Piwi domain|Piwi domain;Piwi domain|Piwi domain|Piwi domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	351.81	55	chr11	94618061	.	G	C	351.81	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.574e+00;DP=1213;ExcessHet=1.7912;FS=147.073;InbreedingCoeff=-0.2177;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=0.407;SOR=10.626	GT:AD:DP:GQ:PL	0/1:41,13:54:59:59,0,772	14	0	6	1
chr11	94998442	94998442	A	G	exonic	KDM4D	.	nonsynonymous SNV	KDM4D:NM_018039:exon3:c.A1070G:p.E357G,	.	.	426	1042	54	0	0	54	0.0252572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.986	D	0.717	P	0.000	U	1.000	N	1.59	L	1.46	T	-1.057	T	0.055	T	0.073	2.859	15.52	-1.5	-0.290	0.824	4.004	0.082	.	0.0037	0.00998403	0.0072	0.0097	0.0024	0.0002	0	0.0020	0.0188	0.0355	0.0063906	988	154602	rs76057256	0.0039	0.0039	0.0028	0.0050	0.0361	0.0038	0.0038	0.0351	0.0347	0.0100	0.0025	3.826e-05	0.0002	0.0001	0.0142	0.0016	0.0054	0.0361	0.0058	0.0058	0.0059	0.0056	0.0304	0.0054	0.0053	0.0264	0.0249	0.0111	0	0.0089	0.0003	0	9.411e-05	0.0102	0.0017	0.0066	0.0304	0.005	0.63226	D	0.075	0.42794	T	0.986	0.61523	D	0.717	0.54739	P	0.000006	0.62929	U	0.000000	1	0.08975	N	1.935	0.51832	L	1.46	0.32238	T	-5.57	0.86372	D	0.042	0.02559	-1.0566	0.12621	T	0.055	0.23224	T	10	0.004995674	0.00107	T	.	.	.	0.082	0.23913	.	.	0.372268306217	0.36840	0.7254151298995516	0.72485	0.691323969143	0.60588	0.365792542696	0.20226	T	0.341384	0.71029	T	-0.607426	0.00131	T	-0.618842	0.11275	T	0.0720550780844124	0.08936	T	0.242976	0.03512	T	0.41269726	0.61602	0.2966068	0.55694	0.41269726	0.61603	0.2966068	0.55693	-5.24	0.39346	T	.	.	0.061	0.01143	B	.;.;.	.;.;.	1.733267	0.22059	15.46	0.99500475937407351	0.67973	0.47774	0.28058	N	AEFDGBI	0.074009	0.14822	N	-0.296844974326509	0.29270	1.621704	-0.500331210384512	0.22145	1.201373	0.0135475313907863	0.12479	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.56	-1.5	0.08233	0.980000	0.29111	-1.299000	0.05779	0.658000	0.54486	0.756000	0.29198	0.000000	0.08366	0.140000	0.19946	0.5476:0.182:0.2704:0.0	4.004	0.09081	944	0.12746	.;.;.	.	.	.	.	.	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	0.04762	4503.11	34	chr11	94998442	.	A	G	4503.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.117;DP=1007;ExcessHet=0.1072;FS=1.303;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=0.376;SOR=0.610	GT:AD:DP:GQ:PL	0/1:88,87:175:99:2350,0,2328	19	0	2	0
chr11	96092217	96092219	TGC	-	exonic	MAML2	.	nonframeshift deletion	MAML2:NM_032427:exon2:c.1812_1814del:p.Q621del,	Mucoepidermoid salivary gland carcinoma (3)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	82727.93	103	chr11	96092210	.	TTGCTGCTGC	T,TTGCTGC	82727.93	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=-1.300e-01;DP=3240;ExcessHet=0.3300;FS=2.351;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.99;MQRankSum=0.00;QD=26.30;ReadPosRankSum=0.083;SOR=1.120	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,108,0:110:99:.:.:4554,324,0,4561,334,4654	0	17	3	0
chr11	103215806	103215806	C	G	exonic	DYNC2H1	.	nonsynonymous SNV	DYNC2H1:NM_001080463:exon55:c.C8780G:p.T2927R	Short-rib thoracic dysplasia 3 with or without polydactyly, Autosomal recessive, Digenic recessive	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.005	B	0.018	B	0.000	U	1.000	D	1.04	L	-0.77	T	-0.928	T	0.221	T	0.368	0.562	7.036	2.15	0.153	0.495	9.899	0.105	0.044925131881	.	.	9.144e-06	0	0	0	0	1.642e-05	0	0	6.5e-06	1	154602	rs752196931	1.37e-06	1.368e-06	1.363e-06	1.377e-06	1.8e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.8e-06	0	0	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	0.421	0.09806	T	0.235	0.24767	T	0.005	0.12996	B	0.018	0.18489	B	0.000084	0.51296	U	0.075732	0.986576	0.81001	D	1.445	0.36358	L	-0.77	0.73523	T	-0.74	0.20791	N	0.496	0.53181	-0.9280	0.44429	T	0.221	0.58370	T	10	0.10023704	0.18241	T	0.044925	0.61730	D	0.105	0.29889	0.342	0.33464	0.371531589858	0.36766	0.46022823341341557	0.45940	0.0705576635459	0.07905	0.49234443903	0.37764	T	0.143345	0.47942	T	-0.0537795	0.43872	T	-0.315027	0.43118	T	0.0399222336709499	0.03676	T	0.89651	0.63872	D	0.17219846	0.37897	0.119372524	0.28813	0.17219846	0.37896	0.119372524	0.28812	-3.405	0.15123	T	0.3912543359724328	0.48440	0.107	0.21201	B	.;.;.;.	.;.;.;.	0.872369	0.12449	8.986	0.81924281095452078	0.13929	0.68616	0.33870	D	AEFDBI	0.439784	0.49862	N	-0.823407914135196	0.12713	0.6214738	-0.736543527393977	0.16054	0.8474346	1.9211061599015E-4	0.05898	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	5.33	2.15	0.26590	0.525000	0.22664	.	.	-0.173000	0.11020	0.054000	0.21560	0.001000	0.17328	0.917000	0.45243	0.0:0.6237:0.0:0.3763	9.899	0.40505	595	0.68488	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	685.98	35	chr11	103215806	.	C	G	685.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.67;DP=787;ExcessHet=0.0000;FS=1.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=-1.291e+00;SOR=0.948	GT:AD:DP:GQ:PL	0/1:51,30:81:99:700,0,1185	20	0	1	0
chr11	106010659	106010659	C	T	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259A:p.A87T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.003	B	0.000	D	0.991	D	1.5	L	.	.	-0.882	T	0.177	T	0.291	2.535	14.44	5.88	2.782	0.899	9.319	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,40:169:99:0|1:106010659_C_G:109,492,4582,0,4089,3980:106010659	4	0	6	5
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.789	P	0.266	B	0.000	D	0.997	D	1.5	L	.	.	-0.909	T	0.128	T	0.715	2.775	15.24	5.88	2.782	0.899	9.319	0.141	0.00459803515366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.232	0.56192	T	0.789	0.44570	P	0.266	0.39732	B	0.000011	0.62929	D	0.111292	0.997442	0.43893	D	0.895	0.22405	L	.	.	.	-1.67	0.45404	N	0.439	0.47765	-0.9091	0.46965	T	0.128	0.43524	T	9	0.3502357	0.51900	T	0.004598	0.11377	T	0.141	0.37795	0.425	0.47021	0.354822389136	0.35094	0.7275256235572604	0.72696	0.716697243913	0.62006	0.596363663673	0.52391	T	0.064719	0.32505	T	0.133721	0.67721	D	-0.0456953	0.67316	D	0.881986200809479	0.53207	D	0.772023	0.40277	T	0.39838198	0.60620	0.35209376	0.60793	0.39838198	0.60621	0.35209376	0.60792	-6.644	0.51388	T	.	.	0.505	0.65603	A	.;.;.	.;.;.	3.825878	0.55270	23.6	0.996785884463948	0.79108	0.93283	0.57804	D	AEFGBI	0.427184	0.49123	N	0.316991759729759	0.57021	3.867974	0.412391093461756	0.62335	4.447326	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	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	5350.67	112	chr11	106010659	.	C	T,G	5350.67	.	AC=6,6;AF=0.188,0.188;AN=32;BaseQRankSum=-4.593e+00;DP=3242;ExcessHet=9.6308;FS=273.412;InbreedingCoeff=-0.5523;MLEAC=7,7;MLEAF=0.219,0.219;MQ=60.00;MQRankSum=0.00;QD=2.70;ReadPosRankSum=2.88;SOR=12.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:129,0,40:169:99:0|1:106010659_C_G:109,492,4582,0,4089,3980:106010659	4	0	6	5
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.001	B	0.002	B	0.001	D	0.672	N	0	N	.	.	-1.080	T	0.039	T	0.091	0.671	7.594	3.03	0.836	0.969	1.144	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4333	6124.11	112	chr11	106010660	.	C	G	6124.11	.	AC=13;AF=0.433;AN=30;BaseQRankSum=-2.788e+00;DP=3216;ExcessHet=11.8493;FS=276.657;InbreedingCoeff=-0.6434;MLEAC=16;MLEAF=0.533;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=2.98;SOR=12.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,40:169:99:0|1:106010659_C_G:109,0,3980:106010659	2	0	13	6
chr11	117181486	117181486	G	A	exonic	SIDT2	.	nonsynonymous SNV	SIDT2:NM_001040455:exon2:c.G254A:p.R85H,	.	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.215	M	1.82	T	-0.059	T	0.452	T	0.792	4.845	27.6	4.15	1.352	9.157	13.475	0.460	.	.	0.00199681	0.0015	0	0.0008	0	0	0.0002	0	0.0099	0.0012742	197	154602	rs562507991	0.0008	0.0008	0.0005	0.0011	0.0112	0.0008	0.0007	0.0106	0.0103	2.987e-05	0.0009	7.652e-05	0	0	0.0024	7.734e-05	0.0009	0.0112	0.0004	0.0004	0.0002	0.0006	0.0100	0.0003	0.0003	0.0078	0.0070	0	0	0.0002	0	0	0	0	0.0001	0	0.0100	0.004	0.91255	D	0.009	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.16	0.60381	M	1.82	0.66474	T	-3.62	0.81595	D	0.937	0.94314	-0.0587	0.81021	T	0.452	0.78591	T	10	0.011970669	0.00259	T	.	.	.	0.460	0.75755	.	.	0.803518760456	0.80168	0.6332600558228162	0.63260	1.65414040978	0.89593	0.793074548244	0.80910	T	0.218602	0.58325	T	-0.110387	0.34706	T	0.0780559	0.75448	D	0.0881334380789489	0.10994	T	0.989934	0.97165	D	0.36034808	0.57862	0.18922502	0.42258	0.36034808	0.57863	0.18922502	0.42257	-9.036	0.67929	D	.	.	0.817	0.85281	P	.;.;.;.;.;.	.;.;.;.;.;.	5.539306	0.91949	32	0.99959060676902556	0.99990	0.85638	0.44792	D	ALL	0.910782	0.86916	D	0.760467794746153	0.83585	8.05613	0.709505000299655	0.83099	7.934063	1.0	0.98316	0.839682	0.99964	0	0.768056	0.99558	0	0.736553	0.94036	0	0.825845	0.99933	0	.	.	5.06	4.15	0.47978	9.007000	0.93130	11.912000	0.99606	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0764:0.0:0.9236:0.0	13.475	0.60757	591	0.68823	.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1070.98	41	chr11	117181486	.	G	A	1070.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.022;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.77;ReadPosRankSum=0.711;SOR=0.766	GT:AD:DP:GQ:PL	0/1:47,44:91:99:1085,0,1144	20	0	1	0
chr11	117282174	117282174	G	A	exonic	RNF214	.	nonsynonymous SNV	RNF214:NM_001077239:exon11:c.G1616A:p.G539D	.	.	416	1102	4	0	0	4	0.00181159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.996	D	0.907	P	0.000	D	0.983	D	1.445	L	1.25	T	-0.940	T	0.162	T	0.781	2.804	15.34	5.39	2.517	1.952	13.01	0.149	0.0132811220029	.	.	8.324e-06	0	8.64e-05	0	0	0	0	0	6.5e-06	1	154602	rs754052074	9.577e-06	9.577e-06	4.084e-06	1.513e-05	0.0003	5.56e-06	4.35e-06	6.094e-05	4.042e-05	0	4.472e-05	0	0	0	0.0003	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.46513	T	0.031	0.53788	D	0.996	0.68779	D	0.907	0.64423	P	0.000100	0.51296	D	0.125811	0.982974	0.39957	D	0.55	0.14455	N	1.25	0.42122	T	-0.18	0.13418	N	0.383	0.46835	-0.9403	0.42568	T	0.162	0.49715	T	10	0.1649633	0.30847	T	0.013281	0.32560	T	0.149	0.39377	0.128	0.03331	0.304565745084	0.30068	0.5702474652138849	0.56952	1.26109270763	0.82029	0.658131182194	0.61142	T	0.021763	0.16890	T	-0.0229747	0.48429	T	-0.170148	0.57429	T	0.294316193544403	0.24769	T	0.884312	0.60710	D	0.09929627	0.23432	0.13231348	0.31754	0.09929627	0.23431	0.13231348	0.31753	-7.653	0.58680	D	.	.	0.374	0.58352	A	.;.;.;.	.;.;.;.	3.588997	0.50639	23.0	0.99768947193057922	0.85750	0.91131	0.52921	D	AEFBI	0.294054	0.40453	N	0.399605129307268	0.61400	4.340689	0.432870173502205	0.63623	4.599969	0.999973357877842	0.50053	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.662433	0.64102	0	.	.	5.39	5.39	0.77615	2.017000	0.40600	8.428000	0.77165	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.977000	0.56843	0.0:0.0:0.8394:0.1606	13.01	0.58131	651	0.62880	.;.;.;.	.	.	.	.	.	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	0.02381	1849.98	45	chr11	117282174	.	G	A	1849.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.430e-01;DP=993;ExcessHet=0.0000;FS=1.354;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.50;ReadPosRankSum=-1.415e+00;SOR=0.550	GT:AD:DP:GQ:PL	0/1:64,73:137:99:1864,0,1691	20	0	1	0
chr11	117918602	117918604	TGG	0	exonic	TMPRSS13	.	.	.	.	.	455	112	9	0	946	955	0.0386266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2892.83	147	chr11	117918602	.	TGG	T,*	2892.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4072;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=60.00;QD=1.03;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,124:124:99:.:.:5352,5352,5352,380,380,0	1	0	0	0
chr11	117918605	117918618	AGATGCCTGGGCTG	0	exonic	TMPRSS13	.	.	.	.	.	453	114	9	0	946	955	0.0379747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	2883.83	147	chr11	117918605	.	AGATGCCTGGGCTG	A,*	2883.83	.	AC=1,33;AF=0.024,0.786;AN=42;DP=4040;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=1,33;MLEAF=0.024,0.786;MQ=59.94;QD=1.03;SOR=0.656	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,124:124:99:.:.:5352,5352,5352,380,380,0	1	0	0	0
chr11	118660626	118660626	T	C	exonic	TREH	.	nonsynonymous SNV	TREH:NM_001301065:exon9:c.A922G:p.I308V	Trehalase deficiency	.	9	1511	2	0	0	2	0.000661376	.	.	3191848	TREH-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.12	T	0.599	P	0.478	P	0.001	D	0.879	D	.	.	0.86	T	-0.808	T	0.091	T	0.135	2.171	13.22	5.24	1.975	5.242	12.654	0.121	.	0.0004	0.00319489	0.0018	0.0002	0.0002	0.0163	0.0007	0.0009	0	0.0003	0.0011255	174	154602	rs140687140	0.0008	0.0008	0.0008	0.0008	0.0212	0.0008	0.0008	0.0200	0.0195	0	0	0.0022	0.0212	0.0010	0.0003	0.0002	0.0006	0.0002	0.0007	0.0007	0.0007	0.0007	0.0141	0.0006	0.0006	0.0115	0.0106	0	0	6.539e-05	0.0023	0.0141	0.0008	0	0.0001	0.0005	0.0012	0.298	0.14595	T	0.379	0.16815	T	0.137	0.27402	B	0.189	0.36295	B	0.000581	0.43095	D	0.228496	0.87863	0.35705	D	.	.	.	0.86	0.46777	T	-0.36	0.13035	N	0.353	0.41063	-0.8083	0.54653	T	0.091	0.34955	T	9	0.008515596	0.00193	T	.	.	.	0.121	0.33580	.	.	0.304108284078	0.30024	0.3558502507967025	0.35499	0.0917149289115	0.10352	0.410879433155	0.26579	T	0.085991	0.37625	T	-0.550204	0.00291	T	-0.552718	0.17066	T	0.0619435517870502	0.07471	T	0.683732	0.31438	T	0.09925581	0.23422	0.19866633	0.43710	0.08549273	0.19832	0.18525669	0.41627	-6.578	0.52298	T	.	.	0.164	0.40441	B	.;.	.;.	2.342947	0.30025	18.31	0.98747247904549396	0.45602	0.87040	0.46462	D	AEFDBCI	0.667505	0.63561	D	0.0835744451384781	0.45698	2.821946	0.162449280642794	0.47805	3.005294	0.9999999991158	0.74766	0.615755	0.39536	0	0.563428	0.19063	0	0.618376	0.41669	0	0.666353	0.64628	0	.	.	5.24	5.24	0.72863	4.216000	0.58337	6.840000	0.56713	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:0.0:0.0:1.0	12.654	0.56140	316	0.87161	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1477.98	33	chr11	118660626	.	T	C	1477.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.717e+00;DP=828;ExcessHet=0.0000;FS=3.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-1.389e+00;SOR=0.486	GT:AD:DP:GQ:PL	0/1:75,64:139:99:1492,0,1972	20	0	1	0
chr11	119172945	119172945	C	A	exonic	NLRX1	.	nonsynonymous SNV	NLRX1:NM_001282143:exon4:c.C185A:p.P62Q	.	.	421	1097	4	0	0	4	0.00181984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.081	B	0.013	B	0.298	N	1.000	N	0.895	L	1.47	T	-0.994	T	0.179	T	0.289	0.410	6.225	2.52	0.082	-0.089	8.295	0.042	0.0172210878034	.	0.000599042	0.0003	9.632e-05	0.0003	0	0	0	0.0011	0.0019	0.0002717	42	154602	rs373665054	0.0001	0.0001	6.806e-05	0.0002	0.0018	0.0001	0.0001	0.0016	0.0015	2.987e-05	0.0001	0	0	0	0.0002	8.993e-06	0.0001	0.0018	6.572e-05	6.563e-05	5.143e-05	8.066e-05	0.0015	3.517e-05	2.617e-05	0.0007	0.0005	0	0	6.544e-05	0	0.0002	0	0	1.471e-05	0	0.0015	0.08	0.33753	T	0.0	0.92824	D	0.02	0.24602	B	0.004	0.16460	B	0.298264	0.14645	N	0.632802	1	0.08975	N	1.5	0.37844	L	1.46	0.70597	T	-2.04	0.46842	N	0.276	0.31253	-0.9941	0.31538	T	0.179	0.52551	T	10	0.0060955286	0.00137	T	0.017221	0.38829	T	0.042	0.11227	0.285	0.24280	0.321108458156	0.31720	0.19899797546513942	0.19816	0.237924470368	0.26341	0.244539126754	0.03215	T	0.022864	0.27428	T	-0.441596	0.01266	T	-0.413575	0.31813	T	0.0151571533540998	0.00330	T	0.423058	0.11563	T	0.025691539	0.01535	0.033476215	0.02250	0.025691539	0.01535	0.033476215	0.02250	-4.452	0.30401	T	.	.	0.067	0.05623	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.038511	0.04024	0.923	0.77973548459479125	0.12101	0.07289	0.13311	N	AEFGBCI	0.068503	0.13515	N	-1.30788202936433	0.03584	0.1603695	-1.28642187970445	0.04613	0.2180095	0.999976614162584	0.50053	0.651	0.46895	0	0.708844	0.79440	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	5.4	2.52	0.29514	-0.083000	0.11250	-0.511000	0.08745	-0.942000	0.02081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7101:0.1328:0.1571	8.295	0.31142	252	0.90114	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1280.98	49	chr11	119172945	.	C	A	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=958;ExcessHet=0.0000;FS=1.515;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-1.049e+00;SOR=0.515	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1295,0,1617	20	0	1	0
chr11	124038586	124038586	G	A	exonic	OR10G7	.	nonsynonymous SNV	OR10G7:NM_001004463:exon1:c.C416T:p.S139L,	.	.	429	1082	11	0	0	11	0.00505747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.008	B	0.009	B	0.182	N	1.000	N	-2.265	N	8.99	T	-1.018	T	0.000	T	0.099	-1.611	0.013	-2.56	-0.761	-1.175	5.615	0.009	0.000664931646905	0.0006	0.00119808	0.0011	9.61e-05	0.0003	0	0.0002	0.0010	0.0033	0.0036	0.0010284	159	154602	rs146400208	0.0010	0.0010	0.0009	0.0011	0.0043	0.0010	0.0009	0.0040	0.0038	0.0003	0.0003	0.0001	2.519e-05	0.0003	0.0040	0.0009	0.0011	0.0043	0.0007	0.0007	0.0007	0.0007	0.0033	0.0006	0.0006	0.0021	0.0017	0.0001	0	0.0004	0	0.0002	0.0002	0	0.0011	0.0014	0.0033	0.52	0.07259	T	0.617	0.07518	T	0.008	0.14655	B	0.009	0.14300	B	0.181893	0.03187	N	1.773420	1	0.08975	N	-1.92	0.00231	N	8.99	0.00021	T	3.18	0.00118	N	0.055	0.02658	-1.0178	0.24431	T	0.000	0.00039	T	10	0.008326083	0.00189	T	6.65E-4	0.00367	T	0.009	0.00846	.	.	0.104622674875	0.10061	0.23667617299537047	0.23582	0.423344336073	0.42799	0.228924363852	0.01890	T	3.73E-4	0.00113	T	-0.726008	0.00025	T	-0.817742	0.01498	T	0.000653516565845912	0.00006	T	0.213579	0.02626	T	0.030913437	0.02837	0.030772457	0.01576	0.030913437	0.02837	0.030772457	0.01576	-1.111	0.01131	T	.	.	0.091	0.17146	B	.;.	.;.	-0.709100	0.01300	0.070	0.59813674587783394	0.06313	0.01029	0.03860	N	AEFI	0.031852	0.03484	N	-1.74572513373214	0.00692	0.02986915	-1.71136203785179	0.01088	0.04886294	5.66277978623558E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.24	-2.56	0.05903	-2.859000	0.00796	-15.256000	0.00365	-0.745000	0.03636	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3552:0.3952:0.2495:0.0	5.615	0.16708	792	0.45996	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	5253.98	34	chr11	124038586	.	G	A	5253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.60;DP=3627;ExcessHet=0.0000;FS=0.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.41;MQRankSum=-6.320e-01;QD=12.22;ReadPosRankSum=2.36;SOR=0.754	GT:AD:DP:GQ:PL	0/1:233,197:430:99:5268,0,6065	20	0	1	0
chr11	124038713	124038713	C	T	exonic	OR10G7	.	nonsynonymous SNV	OR10G7:NM_001004463:exon1:c.G289A:p.V97M,	.	.	415	1096	11	0	0	11	0.00499319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.242	B	0.15	B	0.407	N	1.000	N	0.9	L	7.79	T	-1.039	T	0.001	T	0.164	-0.643	1.163	0.406	-0.014	-0.978	7.533	0.007	0.000708251024096	0.0006	0.00119808	0.0013	0.0003	0.0003	0	0.0006	0.0011	0.0033	0.0045	0.0011449	177	154602	rs147002134	0.0010	0.0011	0.0009	0.0011	0.0045	0.0010	0.0010	0.0041	0.0040	0.0004	0.0003	0.0001	5.038e-05	0.0003	0.0040	0.0009	0.0011	0.0045	0.0007	0.0007	0.0007	0.0008	0.0033	0.0006	0.0006	0.0021	0.0017	0.0002	0	0.0005	0	0.0004	0.0002	0	0.0011	0.0014	0.0033	0.123	0.27544	T	0.296	0.20615	T	0.242	0.30930	B	0.15	0.34161	B	0.406531	0.13054	N	0.660744	0.999749	0.20516	N	0.455	0.12820	N	7.79	0.00337	T	-0.61	0.18042	N	0.083	0.05929	-1.0388	0.17678	T	0.001	0.00222	T	10	0.0064130723	0.00145	T	7.08E-4	0.00454	T	0.007	0.00512	.	.	0.0986583533028	0.09354	0.043940575452420486	0.04338	0.642352258747	0.57803	0.366218328476	0.20287	T	0.003398	0.02809	T	-0.637164	0.00087	T	-0.689175	0.06436	T	0.00155785847818916	0.00016	T	0.528747	0.17479	T	0.034039438	0.03743	0.045023117	0.05964	0.034039438	0.03743	0.045023117	0.05964	-1.855	0.02678	T	.	.	0.155	0.35331	B	.;.	.;.	0.490340	0.08598	5.363	0.93367455725953397	0.23109	0.04419	0.10011	N	AEFI	0.044659	0.07214	N	-1.14809718245586	0.05811	0.2658876	-1.21311517813528	0.05699	0.2722578	1.72675239162619E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.39	0.406	0.15584	-1.043000	0.03646	-12.459000	0.00523	-0.837000	0.02821	0.000000	0.06391	0.000000	0.08366	0.196000	0.21779	0.0:0.5071:0.0:0.4928	7.533	0.26860	792	0.45996	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	3550.98	34	chr11	124038713	.	C	T	3550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.74;DP=2278;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.23;MQRankSum=-3.136e+00;QD=12.20;ReadPosRankSum=0.981;SOR=0.685	GT:AD:DP:GQ:PL	0/1:157,134:291:99:3565,0,3973	20	0	1	0
chr11	124250540	124250540	-	GCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	exonic	OR8G1	.	stopgain	OR8G1:NM_001002905:exon1:c.865_866insGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC:p.I289Sfs*6,	.	.	812	661	1	2	46	51	0.0037679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0014	0.0012	0.0013	0.0014	0.0268	0.0013	0.0013	0.0228	0.0213	0.0010	0.0002	0.0004	0.0009	0.0180	0.0268	0.0004	0.0007	0.0024	0.0042	0.0044	0.0039	0.0046	0.0058	0.0039	0.0038	0.0039	0.0038	0.0046	0.0049	0.0034	0.0030	0.0033	0.0029	0.0212	0.0044	0.0045	0.0058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	920.0	39	chr11	124250540	.	A	AGCTACATATGTTTTTAAATCTAATCTAATTTAATTTATATTTCAAGTTGATTAAAATTTAC	920.0	.	AC=1;AF=0.045;AN=22;BaseQRankSum=4.95;DP=1796;ExcessHet=0.0000;FS=37.269;InbreedingCoeff=0.2727;MLEAC=2;MLEAF=0.091;MQ=60.00;MQRankSum=0.00;QD=4.38;ReadPosRankSum=-3.807e+00;SOR=2.628	GT:AD:DP:GQ:PL	0/1:175,35:210:99:929,0,7248	10	0	1	10
chr11	125947997	125947997	C	T	exonic	VSIG10L2	.	nonsynonymous SNV	VSIG10L2:NM_001365077:exon2:c.C394T:p.L132F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.26e-07	2.052e-06	0	1.961e-06	.	0	0	.	.	0	0	0	0	4.645e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12894607	0.24532	T	.	.	.	.	.	.	.	.	.	0.08907799151004708	0.08840	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.405359	0.10397	T	0.056302942	0.11059	0.10900517	0.26266	0.056302942	0.11059	0.10900517	0.26266	-7.642	0.58604	D	.	.	0.155	0.34205	B	.	.	2.222991	0.28372	17.77	0.79420649046938685	0.12734	0.20357	0.21011	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.54548298063999	0.21289	0.056701	0.00814	0	0.063388	0.01293	0	0.074216	0.02223	0	0.062806	0.01542	0	0.220297	0.31340	5.0	1.79	0.23992	0.746000	0.25942	1.960000	0.29933	0.599000	0.40250	0.015000	0.19116	1.000000	0.68203	0.075000	0.16954	0.4123:0.4429:0.1448:0.0	8.517	0.32414	843	0.36859	Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03333	31.21	2	chr11	125947997	.	C	T	31.21	.	AC=1;AF=0.033;AN=30;BaseQRankSum=-9.670e-01;DP=66;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1456;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=10.40;ReadPosRankSum=0.00;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	14	0	1	6
chr11	130428225	130428225	-	GCA	exonic	ADAMTS8	.	nonframeshift insertion	ADAMTS8:NM_007037:exon1:c.61_62insTGC:p.L21_P22insL,	.	.	0	41	77	64	44	249	0.714286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	8760.77	19	chr11	130428222	.	GGCA	G,GGCAGCA	8760.77	.	AC=21,6;AF=0.500,0.143;AN=42;BaseQRankSum=0.204;DP=554;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=21,6;MLEAF=0.500,0.143;MQ=60.00;MQRankSum=0.00;QD=28.54;ReadPosRankSum=0.132;SOR=0.702	GT:AD:DP:GQ:PL	1/1:0,12,0:12:36:505,36,0,505,36,505	3	7	5	0
chr12	553246	553246	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.G1323C:p.E441D,	.	.	427	1038	55	2	0	59	0.0276347	.	.	702400	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.48	T	0.058	B	0.017	B	0.054	N	0.694	D	0.665	N	3.47	T	-1.030	T	0.027	T	0.177	1.279	10.18	1.79	0.130	-0.238	4.755	0.057	.	0.0059	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0079	0.0191	0.0065458	1012	154602	rs35419938	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0174	0.0048	0.0047	0.0144	0.0133	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0069	0.0080	0.0174	0.17	0.28646	T	0.445	0.18449	T	0.001	0.22967	B	0.001	0.18140	B	0.054444	0.22724	N	0.513490	0.694362	0.33358	D	1.965	0.53209	M	3.47	0.33412	T	-0.71	0.20145	N	0.113	0.10056	-1.0298	0.20519	T	0.027	0.11485	T	10	0.003033489	0.00050	T	.	.	.	0.057	0.16321	0.061	0.00225	0.26547132957	0.26150	0.3320672336054664	0.33119	0.137519854837	0.15505	0.303518891335	0.10928	T	0.008035	0.10465	T	-0.55733	0.00263	T	-0.559063	0.16465	T	0.00424846492393013	0.00045	T	0.516848	0.17735	T	0.07017605	0.15436	0.050029136	0.07768	0.07017605	0.15436	0.050029136	0.07767	-4.023	0.24147	T	.	.	0.080	0.11220	B	.;.	.;.	0.637848	0.10061	6.812	0.98851990051414873	0.47305	0.06048	0.12017	N	AEFBI	0.067716	0.13326	N	-0.769882621636174	0.14100	0.6996357	-0.690678665284384	0.17193	0.9131054	0.993072403822061	0.33075	0.695654	0.57023	0	0.475579	0.06741	0	0.723109	0.80598	0	0.63947	0.58350	0	.	.	5.43	1.79	0.23992	0.007000	0.13074	0.008000	0.13396	0.676000	0.76740	0.008000	0.17931	0.003000	0.18671	0.309000	0.24713	0.2545:0.172:0.5735:0.0	4.755	0.12456	804	0.43891	.;.	.	.	.	.	.	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	0.04762	1481.11	34	chr12	553246	.	G	C	1481.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-7.700e-02;DP=781;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.795;SOR=0.721	GT:AD:DP:GQ:PL	0/1:30,30:60:99:815,0,902	19	0	2	0
chr12	553529	553529	C	T	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon14:c.C1606T:p.H536Y,	.	.	410	1055	55	2	0	59	0.0272015	.	.	702401	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.75	P	0.129	B	0.065	N	1.000	N	0.345	N	3.47	T	-1.005	T	0.025	T	0.284	0.654	7.508	3.57	0.611	2.541	6.671	0.102	.	0.0058	0.00519169	0.0068	0.0022	0.0042	0	0.0005	0.0064	0.0078	0.0191	0.0066429	1027	154602	rs151321644	0.0063	0.0063	0.0059	0.0068	0.0229	0.0062	0.0062	0.0197	0.0185	0.0024	0.0040	0.0172	2.519e-05	0.0005	0.0229	0.0057	0.0076	0.0190	0.0051	0.0051	0.0051	0.0052	0.0172	0.0048	0.0047	0.0142	0.0131	0.0017	0	0.0040	0.0184	0	0.0007	0.0306	0.0068	0.0080	0.0172	0.698	0.07163	T	0.151	0.35205	T	0.002	0.43260	B	0.001	0.32841	B	0.064754	0.02181	N	1.800440	1	0.08975	N	1.355	0.33814	L	3.47	0.32958	T	-1.58	0.42001	N	0.204	0.22614	-1.0050	0.28457	T	0.025	0.10910	T	10	0.0034027994	0.00060	T	.	.	.	0.102	0.29158	.	.	0.33340067248	0.32956	0.23042138291317035	0.22957	0.216515701183	0.24171	0.293155878782	0.09383	T	0.006203	0.17282	T	-0.508331	0.00513	T	-0.488679	0.23528	T	0.0223731037280573	0.00951	T	0.50185	0.15733	T	0.052662954	0.09854	0.04470011	0.05851	0.052662954	0.09853	0.04470011	0.05851	-4.482	0.30652	T	.	.	0.074	0.07650	B	.;.	.;.	2.071965	0.26352	17.09	0.71380471459127814	0.09609	0.41381	0.26644	N	AEFDGBCI	0.100164	0.20147	N	-0.81097235367886	0.13029	0.6390703	-0.773372746637339	0.15149	0.7952879	0.999988630867901	0.51787	0.718356	0.82227	0	0.491552	0.07993	0	0.570548	0.19454	0	0.620976	0.48614	0	.	.	5.47	3.57	0.40014	4.056000	0.57161	3.976000	0.40865	0.580000	0.29708	0.771000	0.29368	0.735000	0.26442	0.002000	0.04165	0.2924:0.6219:0.0:0.0858	6.671	0.22260	804	0.43891	.;.	.	.	.	.	.	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	0.04762	2802.11	40	chr12	553529	.	C	T	2802.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.290e-01;DP=1182;ExcessHet=0.1072;FS=0.512;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=1.37;SOR=0.633	GT:AD:DP:GQ:PL	0/1:40,45:85:99:1269,0,1128	19	0	2	0
chr12	558560	558560	G	C	exonic	B4GALNT3	.	nonsynonymous SNV	B4GALNT3:NM_173593:exon18:c.G2660C:p.G887A,	.	.	414	1085	23	0	0	23	0.0104879	.	.	3185142	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.09	T	0.091	B	0.119	B	0.048	N	0.998	N	1.725	L	1.21	T	-1.025	T	0.054	T	0.554	0.531	6.874	4.85	2.385	2.734	14.012	0.116	0.00940082659047	0.0048	0.00319489	0.0041	0.0008	0.0033	0	0.0005	0.0054	0.0022	0.0052	0.0010737	166	154602	rs61730392	0.0049	0.0049	0.0048	0.0051	0.0180	0.0048	0.0048	0.0152	0.0142	0.0006	0.0026	0.0090	0	0.0005	0.0180	0.0053	0.0051	0.0060	0.0039	0.0039	0.0040	0.0038	0.0064	0.0036	0.0035	0.0056	0.0055	0.0009	0	0.0039	0.0078	0.0004	0.0003	0.0340	0.0061	0.0038	0.0064	0.173	0.22573	T	0.051	0.47828	T	0.091	0.25247	B	0.119	0.32162	B	0.047531	0.23336	N	0.450561	0.997748	0.22526	N	2.085	0.57729	M	1.21	0.37230	T	-3.07	0.63207	D	0.339	0.38027	-1.0250	0.22083	T	0.054	0.22959	T	10	0.007891625	0.00179	T	0.009401	0.24646	T	0.116	0.32463	.	.	0.382592752248	0.37866	0.5573434413093522	0.55661	0.285283984109	0.30940	0.503007769585	0.39247	T	0.025108	0.18839	T	-0.405663	0.02124	T	-0.345095	0.39767	T	0.0327530080428687	0.02430	T	0.80202	0.44827	T	0.14915045	0.34016	0.19425906	0.43039	0.14915045	0.34016	0.19425906	0.43038	-7.163	0.55215	T	.	.	0.107	0.20235	B	.	.	3.297854	0.45254	22.1	0.91282640441553953	0.20542	0.74996	0.36702	D	AEFGBI	0.154587	0.27964	N	-0.184703900682098	0.33770	1.919788	-0.127708451940447	0.34277	1.969932	0.999954154224236	0.48110	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	4.85	4.85	0.62375	2.341000	0.43640	4.424000	0.43326	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.433000	0.27516	0.0:0.1514:0.8486:0.0	14.012	0.64021	824	0.40336	.	.	.	.	.	.	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	0.04762	2322.11	33	chr12	558560	.	G	C	2322.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.09;DP=883;ExcessHet=0.1072;FS=6.257;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.69;ReadPosRankSum=-1.121e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/1:32,31:63:99:845,0,810	19	0	2	0
chr12	2677831	2677831	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5079C:p.E1693D	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.99	D	0.979	D	0.957	N	1.000	D	1.67	L	-3.92	D	0.719	D	0.898	D	0.516	1.587	11.26	3.64	2.402	1.691	6.835	0.516	0.0984370134189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.40573	T	0.062	0.52389	T	0.808	0.63424	P	0.275	0.74454	B	0.957208	0.08248	N	0.976724	0.999467	0.47157	D	2.315	0.66250	M	-4.09	0.96772	D	-1.94	0.45042	N	0.485	0.56748	0.719	0.93405	D	0.898	0.96605	D	10	0.30664805	0.48173	T	0.098437	0.76941	D	0.516	0.79340	0.341	0.33302	0.854859035509	0.85346	0.6617621861880766	0.66113	0.178138410409	0.20040	0.75000667572	0.74447	T	0.010745	0.22062	T	0.187027	0.72690	D	0.0308744	0.72336	D	0.197412386536598	0.20272	T	.	.	.	.	.	.	.	.	.	.	.	-7.769	0.59485	D	.	.	0.322	0.62271	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.174263	0.43060	21.7	0.99057970756030855	0.51413	0.94609	0.61725	D	AEFBI	0.641712	0.61894	D	0.0269888870314487	0.43085	2.608398	0.0573250786890299	0.42425	2.56599	0.0455334280670845	0.14656	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	3.64	0.40864	1.574000	0.36091	1.450000	0.26598	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1963:0.0:0.8037:0.0	6.835	0.23115	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.03125	42.08	107	chr12	2677831	.	G	C	42.08	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-3.589e+00;DP=2514;ExcessHet=0.0000;FS=77.154;InbreedingCoeff=-0.0940;MLEAC=1;MLEAF=0.031;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.283;SOR=6.593	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,26:168:54:0|1:2677831_G_C:54,0,4689:2677831	15	0	1	5
chr12	2677832	2677832	G	C	exonic	CACNA1C	.	nonsynonymous SNV	CACNA1C:NM_001129837:exon40:c.G5080C:p.A1694P	Brugada syndrome 3;Timothy syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.951	P	0.742	P	0.955	N	1.000	D	0.795	N	-3.73	D	0.566	D	0.862	D	0.181	1.376	10.53	4.62	2.402	3.309	17.639	0.312	0.168125990135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.27904	T	0.324	0.19016	T	0.001	0.53992	B	0.004	0.55764	B	0.955475	0.08259	N	0.975185	0.99874	0.45372	D	0.51	0.13489	N	-3.91	0.96277	D	-1.11	0.33798	N	0.194	0.30233	0.566	0.91455	D	0.862	0.95418	D	10	0.1827906	0.33575	T	0.168126	0.84631	D	0.312	0.63375	0.359	0.36222	0.526448013984	0.52292	0.8296726985909174	0.82925	0.247068042511	0.27244	0.755146980286	0.75208	T	0.009692	0.20449	T	0.0676861	0.60565	T	-0.14055	0.60069	T	0.401444281778735	0.28996	T	.	.	.	.	.	.	.	.	.	.	.	-12.063	0.87069	D	.	.	0.947	0.89314	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.226746	0.63974	24.6	0.97515105936428548	0.34373	0.94381	0.60984	D	AEFBI	0.849904	0.76673	D	-0.213977285304823	0.32560	1.837526	-0.0751978937003241	0.36420	2.119189	0.803149056102645	0.24221	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.62	4.62	0.56946	4.245000	0.58529	9.742000	0.81438	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.639	0.88034	866	0.32446	Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;.;.;.;.;.;.;.;.;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;.;.;.;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal;Voltage-gated calcium channel subunit alpha, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02778	41.1	144	chr12	2677832	.	G	C	41.1	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.972e+00;DP=1473;ExcessHet=0.0000;FS=149.509;InbreedingCoeff=-0.0638;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.319;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,26:168:54:0|1:2677831_G_C:54,0,4689:2677831	17	0	1	3
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.418	B	0.122	B	0.121	N	1.000	N	1.7	L	-0.07	T	-0.998	T	0.134	T	0.063	0.770	8.072	-2.7	-0.238	-0.480	5.450	0.029	0.0114393036777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.479e-06	0.0002	5.452e-06	5.506e-06	1.16e-05	2.36e-06	1.7e-06	2.62e-06	1.69e-06	0	0	0	0	0	0	6.303e-06	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.401	0.14961	T	0.346	0.33564	B	0.084	0.29270	B	0.121393	0.18998	N	0.456574	1	0.08975	N	1.725	0.44537	L	-0.08	0.63911	T	0.73	0.02068	N	0.144	0.14480	-0.9982	0.30423	T	0.134	0.44720	T	10	0.07988778	0.12903	T	0.011439	0.29067	T	0.029	0.06676	0.269	0.21735	0.558735321446	0.55534	0.18653166389102285	0.18571	0.09495456672	0.10722	0.417934507132	0.27553	T	9.22E-4	0.00478	T	-0.259265	0.12987	T	-0.610193	0.11969	T	0.123014807701111	0.14722	T	0.59544	0.22079	T	0.04078166	0.05886	0.040100157	0.04256	0.04078166	0.05886	0.040100157	0.04256	-4.202	0.26780	T	.	.	0.104	0.18869	B	.;.;.	.;.;.	0.165782	0.05554	2.014	0.79475724993608643	0.12759	0.01358	0.04650	N	AEFDBI	0.066344	0.12987	N	-1.06848562840135	0.07230	0.3352268	-1.19599880480459	0.05976	0.2863112	2.00585938924982E-4	0.05898	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-2.7	0.05651	-0.445000	0.06918	0.067000	0.14209	-0.678000	0.04252	0.001000	0.13787	0.000000	0.08366	0.446000	0.27806	0.499:0.1481:0.3529:0.0	5.450	0.15851	834	0.38640	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4286	4735.5	83	chr12	4591261	.	G	C	4735.5	.	AC=18;AF=0.429;AN=42;BaseQRankSum=-2.041e+00;DP=1832;ExcessHet=30.0624;FS=292.214;InbreedingCoeff=-0.7498;MLEAC=18;MLEAF=0.429;MQ=60.00;MQRankSum=0.00;QD=3.39;ReadPosRankSum=0.900;SOR=12.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:47,27:81:99:.:.:171,0,678	3	0	18	0
chr12	6019103	6019103	C	T	exonic	VWF	.	nonsynonymous SNV	VWF:NM_000552:exon28:c.G4315A:p.V1439M,	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	1521	1	0	0	1	0.000328623	.	.	1325520	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.185	B	0.073	B	0.416	N	0.932	D	3.28	M	-1.7	D	-0.252	T	0.514	D	0.822	0.432	6.344	-1.93	-0.114	0.514	5.159	0.560	0.747992736843	0.0014	0.00139776	0.0009	0.0047	0.0002	0	0.0053	0.0002	0.0011	0.0006	0.0007568	117	154602	rs150077670	0.0004	0.0004	0.0003	0.0004	0.0045	0.0003	0.0003	0.0039	0.0037	0.0045	0.0002	7.653e-05	7.557e-05	0.0045	0.0003	3.418e-05	0.0005	0.0008	0.0022	0.0022	0.0020	0.0024	0.0057	0.0020	0.0019	0.0051	0.0049	0.0057	0	0.0004	0	0	0.0065	0	0.0002	0.0009	0.0019	0.011	0.55530	D	0.012	0.63918	D	0.185	0.29232	B	0.073	0.28123	B	0.416252	0.12930	N	0.637662	0.996713	0.22926	N	3.07	0.87108	M	-1.7	0.83072	D	-0.92	0.24676	N	0.19	0.20793	-0.2516	0.76316	T	0.514	0.81768	D	10	0.02357778	0.00621	T	0.747993	0.97988	D	0.560	0.81946	.	.	0.486135451721	0.48247	0.5519343579956127	0.55119	0.282756110662	0.30728	0.60293006897	0.53318	T	0.430885	0.77920	T	-0.0988191	0.36622	T	0.0859551	0.75976	D	0.0229781479886053	0.01021	T	0.915608	0.69895	D	0.2791891	0.50970	0.22229934	0.47069	0.2791891	0.50970	0.22229934	0.47068	-4.357	0.28968	T	0.15720669289023345	0.18968	0.115	0.23041	B	.	.	1.422968	0.18399	13.72	0.98379328117137788	0.40832	0.15732	0.19055	N	AEFDBI	0.313192	0.41841	N	-0.611550576550994	0.18597	0.9667415	-0.780273136121086	0.14978	0.7854872	0.531326126293086	0.21178	0.67177	0.52595	0	0.59043	0.45803	0	0.547309	0.15389	0	0.711	0.71501	0	.	.	4.35	-1.93	0.07180	0.524000	0.22648	-0.378000	0.09560	0.594000	0.32500	0.106000	0.22914	0.000000	0.08366	0.185000	0.21450	0.2261:0.1802:0.5091:0.0846	5.159	0.14376	952	0.10565	von Willebrand factor, type A|von Willebrand factor, type A|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	0.02381	3243.98	38	chr12	6019103	.	C	T	3243.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.28;DP=2444;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.83;MQRankSum=-1.791e+00;QD=12.98;ReadPosRankSum=-1.500e+00;SOR=0.695	GT:AD:DP:GQ:PL	0/1:129,121:250:99:3258,0,3253	20	0	1	0
chr12	6667913	6667918	TGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1187del:p.Q399_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,8,59,0,0:67:99:2562,2211,2258,321,0,132,2554,2253,319,2579,2554,2253,319,2579,2579	0	0	0	0
chr12	6667916	6667918	TGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1184del:p.Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,8,59,0,0:67:99:2562,2211,2258,321,0,132,2554,2253,319,2579,2554,2253,319,2579,2579	0	0	0	0
chr12	6667918	6667918	-	TGC	exonic	ZNF384	.	nonframeshift insertion	ZNF384:NM_001039920:exon9:c.1181_1182insGCA:p.Q400_P401insQ	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,8,59,0,0:67:99:2562,2211,2258,321,0,132,2554,2253,319,2579,2554,2253,319,2579,2579	0	0	0	0
chr12	6667904	6667918	TGCTGCTGCTGCTGC	-	exonic	ZNF384	.	nonframeshift deletion	ZNF384:NM_001039920:exon9:c.1182_1196del:p.Q396_Q400del	.	.	411	104	0	1	1006	1008	0.00952381	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169898408	0.0003	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0004	0.0003	3.944e-05	0.0002	0	0.0004	0.0003	0.0004	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0002	0.0001	0.0006	0.0004	0.0002	0	0	0	0	0	0.0035	0.0003	0	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43890.69	50	chr12	6667903	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC,T	43890.69	.	AC=13,22,2,1;AF=0.310,0.524,0.048,0.024;AN=42;BaseQRankSum=1.09;DP=2315;ExcessHet=0.6776;FS=4.482;InbreedingCoeff=-0.1053;MLEAC=12,23,2,1;MLEAF=0.286,0.548,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=33.00;ReadPosRankSum=-6.500e-02;SOR=0.494	GT:AD:DP:GQ:PL	1/2:0,8,59,0,0:67:99:2562,2211,2258,321,0,132,2554,2253,319,2579,2554,2253,319,2579,2579	0	0	0	0
chr12	6936749	6936749	-	CAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAG:p.Q502_H503insQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:4,41,0,22,0,0,0:67:99:.:.:2155,676,693,2251,857,2699,1423,0,1928,2161,2251,857,2699,1928,2699,2251,857,2699,1928,2699,2699,2251,857,2699,1928,2699,2699,2699	1	0	2	0
chr12	6936749	6936749	-	CAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAG:p.Q502_H503insQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:4,41,0,22,0,0,0:67:99:.:.:2155,676,693,2251,857,2699,1423,0,1928,2161,2251,857,2699,1928,2699,2251,857,2699,1928,2699,2699,2251,857,2699,1928,2699,2699,2699	1	0	2	0
chr12	6936747	6936749	CAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1480_1482del:p.Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:4,41,0,22,0,0,0:67:99:.:.:2155,676,693,2251,857,2699,1423,0,1928,2161,2251,857,2699,1928,2699,2251,857,2699,1928,2699,2699,2251,857,2699,1928,2699,2699,2699	1	0	2	0
chr12	6936749	6936749	-	CAGCAGCAG	exonic	ATN1	.	nonframeshift insertion	ATN1:NM_001007026:exon5:c.1482_1483insCAGCAGCAG:p.Q502_H503insQQQ	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:4,41,0,22,0,0,0:67:99:.:.:2155,676,693,2251,857,2699,1423,0,1928,2161,2251,857,2699,1928,2699,2251,857,2699,1928,2699,2699,2251,857,2699,1928,2699,2699,2699	1	0	2	0
chr12	6936741	6936749	CAGCAGCAG	-	exonic	ATN1	.	nonframeshift deletion	ATN1:NM_001007026:exon5:c.1474_1482del:p.Q500_Q502del	Dentatorubro-pallidoluysian atrophy, Autosomal dominant	.	129	452	137	68	736	1009	0.231946	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	35287.3	42	chr12	6936728	.	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAG,A,ACAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG,ACAGCAGCAGCAG	35287.3	.	AC=4,3,14,3,3,5;AF=0.095,0.071,0.333,0.071,0.071,0.119;AN=42;BaseQRankSum=0.252;DP=1830;ExcessHet=1.5138;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=4,3,14,3,3,5;MLEAF=0.095,0.071,0.333,0.071,0.071,0.119;MQ=59.99;MQRankSum=0.00;QD=30.63;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:4,41,0,22,0,0,0:67:99:.:.:2155,676,693,2251,857,2699,1423,0,1928,2161,2251,857,2699,1928,2699,2251,857,2699,1928,2699,2699,2251,857,2699,1928,2699,2699,2699	1	0	2	0
chr12	10806817	10806817	C	A	exonic	TAS2R8	.	nonsynonymous SNV	TAS2R8:NM_023918:exon1:c.G164T:p.R55I,	.	.	437	1072	12	1	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.434	U	0.988	D	3.535	H	1.2	T	-0.610	T	0.223	T	0.727	2.599	14.65	3.9	0.996	1.309	7.413	0.257	.	0.0038	0.00539137	0.0043	0.0012	0.0029	0.0001	0.0015	0.0050	0.0044	0.0079	0.0042755	661	154602	rs142540719	0.0048	0.0048	0.0047	0.0049	0.0096	0.0047	0.0047	0.0090	0.0088	0.0007	0.0035	0.0055	2.52e-05	0.0026	0.0059	0.0048	0.0059	0.0096	0.0037	0.0037	0.0037	0.0037	0.0128	0.0034	0.0033	0.0103	0.0094	0.0009	0.0022	0.0040	0.0049	0.0002	0.0027	0.0068	0.0050	0.0052	0.0128	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.434370	0.12708	U	0.682034	0.988337	0.40745	D	3.63	0.94006	H	1.2	0.37405	T	-7.8	0.95924	D	0.527	0.55626	-0.6104	0.64387	T	0.223	0.58742	T	10	0.013548523	0.00287	T	.	.	.	0.257	0.56827	.	.	0.377976839388	0.37411	0.2103716931649371	0.20953	0.0063831523443	0.00556	0.283663511276	0.08008	T	0.224698	0.58921	T	-0.258535	0.13073	T	-0.138454	0.60251	T	0.082055394761757	0.10248	T	.	.	.	0.66386664	0.76106	0.8723281	0.93026	0.66386664	0.76107	0.8723281	0.93027	-8.048	0.61397	D	.	.	0.527	0.65785	A	.	.	2.978778	0.39725	21.0	0.98573903527112194	0.43141	0.86188	0.45421	D	AEFBI	0.247155	0.36778	N	0.501910021310106	0.67202	5.050419	0.341232598334537	0.57981	3.966212	1.55228032082513E-4	0.05650	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.79	3.9	0.44240	1.370000	0.33843	1.537000	0.27200	0.530000	0.24713	0.910000	0.31679	0.998000	0.33993	0.693000	0.33928	0.0:0.799:0.0:0.201	7.413	0.26202	817	0.41665	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	0.02381	2406.98	36	chr12	10806817	.	C	A	2406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.777e+00;DP=970;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.98;ReadPosRankSum=-3.760e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:102,99:201:99:2421,0,2734	20	0	1	0
chr12	11353413	11353413	G	0	exonic	PRB1	.	.	.	.	.	776	281	207	230	28	695	0.542718	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6944	47416.68	201	chr12	11353413	.	G	A,*	47416.68	.	AC=22,3;AF=0.611,0.083;AN=36;BaseQRankSum=1.23;DP=4494;ExcessHet=0.6840;FS=7.239;InbreedingCoeff=0.1429;MLEAC=25,3;MLEAF=0.694,0.083;MQ=49.32;MQRankSum=0.484;QD=21.62;ReadPosRankSum=0.236;SOR=1.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,48,0:59:99:0|1:11353413_G_A:1642,0,110,1714,140,1934:11353413	2	8	6	3
chr12	11353469	11353469	A	0	exonic	PRB1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8214	21751.81	201	chr12	11353469	.	A	G,*	21751.81	.	AC=20,3;AF=0.714,0.107;AN=28;BaseQRankSum=1.20;DP=4073;ExcessHet=0.2102;FS=5.613;InbreedingCoeff=0.1459;MLEAC=26,4;MLEAF=0.929,0.143;MQ=51.75;MQRankSum=-5.705e+00;QD=18.93;ReadPosRankSum=-1.910e+00;SOR=1.241	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,16,0:27:99:0|1:11353413_G_A:626,0,207,657,140,776:11353413	0	8	4	7
chr12	14540894	14540894	T	C	exonic	PLBD1	.	nonsynonymous SNV	PLBD1:NM_024829:exon4:c.A428G:p.D143G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.772	P	0.511	P	0.000	D	0.997	D	2.56	M	2.3	T	-1.110	T	0.070	T	0.512	2.706	15.01	4.01	0.892	6.412	10.835	0.162	0.0204478802821	.	.	4.972e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs774824067	2.147e-05	2.257e-05	1.649e-05	2.652e-05	0.0004	1.539e-05	1.341e-05	0.0002	0.0002	0	0	0	0	0	0.0004	5.46e-06	0	0.0003	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.166	0.57480	T	0.419	0.14158	T	0.772	0.43974	P	0.511	0.47948	P	0.000003	0.62929	D	0.102221	0.997003	0.43563	D	3.205	0.89189	M	2.3	0.16953	T	-3.66	0.76094	D	0.602	0.62018	-1.1096	0.03104	T	0.070	0.28478	T	10	0.23243475	0.40239	T	0.020448	0.43047	T	0.162	0.41843	0.538	0.64874	0.263612267334	0.25957	0.6730135620177022	0.67239	0.697099281268	0.60879	0.435301721096	0.29935	T	0.018034	0.14606	T	-0.266442	0.12156	T	-0.322943	0.42250	T	0.539534753546301	0.34086	D	0.90251	0.65969	D	0.34066033	0.56332	0.31234854	0.57237	0.34066033	0.56332	0.31234854	0.57236	-4.277	0.27853	T	.	.	0.158	0.38693	B	.;.	.;.	4.820991	0.78525	26.9	0.99469772445860061	0.66259	0.96594	0.69924	D	AEFBI	0.833454	0.75166	D	0.279507638803154	0.55109	3.67541	0.242262975068134	0.52210	3.397413	0.761363761841419	0.23516	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.18	4.01	0.45821	6.732000	0.74596	6.127000	0.53864	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.455000	0.28006	0.0:0.0:0.1585:0.8415	10.835	0.45890	506	0.75555	.;.	.	.	.	.	.	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	0.02381	1185.98	34	chr12	14540894	.	T	C	1185.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.041e+00;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-7.320e-01;SOR=0.634	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1200,0,1055	20	0	1	0
chr12	31984967	31984967	A	G	exonic	RESF1	.	nonsynonymous SNV	RESF1:NM_018169:exon4:c.A4012G:p.T1338A,	.	.	423	1088	10	1	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	B	0.008	B	0.022	N	1.000	N	0	N	2.74	T	-1.011	T	0.001	T	0.037	0.957	8.903	-8.75	-1.463	-2.164	5.098	0.003	.	0.0008	0.0257588	0.0123	0.0009	0.0313	0.1084	0.0041	0.0013	0.0044	0.0038	0.0114811	1775	154602	rs3759296	0.0044	0.0044	0.0045	0.0043	0.0895	0.0043	0.0043	0.0871	0.0861	0.0005	0.0264	0.0028	0.0895	0.0042	0.0021	0.0004	0.0081	0.0047	0.0062	0.0062	0.0054	0.0072	0.1032	0.0059	0.0058	0.0960	0.0931	0.0012	0	0.0131	0.0029	0.1032	0.0049	0	0.0005	0.0061	0.0110	0.443	0.09182	T	0.922	0.02855	T	0.023	0.18885	B	0.008	0.13708	B	0.022031	0.01564	N	2.186560	1	0.08975	N	0.69	0.16971	N	2.74	0.11730	T	-0.78	0.21644	N	0.015	0.00181	-1.0108	0.26666	T	0.001	0.00255	T	9	0.0015259683	0.00017	T	.	.	.	0.003	0.00094	.	.	.	.	0.06446763811032433	0.06385	0.00905915386258	0.00821	0.207106500864	0.00695	T	0.007368	0.06780	T	-0.805028	0.00007	T	-0.84229	0.01065	T	0.00249293249243826	0.00026	T	0.433757	0.11839	T	0.028622765	0.02227	0.019876044	0.00108	0.028622765	0.02227	0.019876044	0.00108	-3.858	0.21674	T	.	.	0.092	0.13644	B	.	.	-1.197060	0.00533	0.012	0.54390610530725902	0.05128	0.03590	0.08812	N	AEFBCI	0.031403	0.03353	N	-1.47099549009913	0.02057	0.09042917	-1.56566118211406	0.01870	0.08525006	0.999977303689281	0.50053	0.67177	0.52595	0	0.606735	0.50208	0	0.702456	0.68683	0	0.645665	0.59343	0	.	.	5.3	-8.75	0.00721	-2.262000	0.01257	-1.811000	0.04683	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.216:0.2115:0.4686:0.1039	5.098	0.14081	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	0.02381	1808.98	51	chr12	31984967	.	A	G	1808.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.830e-01;DP=1546;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=0.483;SOR=0.670	GT:AD:DP:GQ:PL	0/1:63,69:132:99:1823,0,1778	20	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.374	B	0.326	B	0.000	D	1.000	D	0.86	L	-0.89	T	-0.602	T	0.322	T	0.754	2.842	15.47	5.39	2.533	4.151	19.172	0.252	0.0443433292116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.747e-06	0.0002	4.1e-06	1.38e-06	3.612e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.612e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.462	0.12526	T	0.374	0.34192	B	0.326	0.41929	B	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.89	0.74793	T	-0.46	0.14978	N	0.564	0.58798	-0.6019	0.64739	T	0.322	0.69134	T	10	0.51726407	0.62438	D	0.044343	0.61442	D	0.252	0.56159	0.421	0.46365	0.695003275107	0.69237	0.8554796860303294	0.85510	0.415926434887	0.42235	0.617287814617	0.55346	T	0.14097	0.47579	T	0.161933	0.70380	D	-0.00517021	0.70000	D	0.952465236186981	0.63797	D	0.912409	0.68863	D	0.25600496	0.48637	0.19588253	0.43288	0.25600496	0.48637	0.19588253	0.43287	-8.267	0.62875	D	.	.	0.147	0.32493	B	.	.	3.372480	0.46612	22.3	0.9975783521054008	0.84772	0.94008	0.59836	D	AEFCI	0.740830	0.68496	D	0.145500679544335	0.48600	3.070197	0.293165215121814	0.55141	3.677321	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,28,0:64:98:.:.:98,0,499,195,570,765	2	0	14	4
chr12	39764776	39764776	G	A	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528T:p.L510F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.722	P	0.519	P	0.000	D	1.000	D	1.98	M	-0.99	T	-0.129	T	0.446	T	0.785	3.086	16.31	5.39	2.533	4.151	19.172	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4412	2610.12	56	chr12	39764776	.	G	C,A	2610.12	.	AC=14,1;AF=0.412,0.029;AN=34;BaseQRankSum=-6.850e-01;DP=1247;ExcessHet=23.1855;FS=336.411;InbreedingCoeff=-0.6462;MLEAC=16,1;MLEAF=0.471,0.029;MQ=60.00;MQRankSum=0.00;QD=2.73;ReadPosRankSum=0.591;SOR=12.071	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,28,0:64:98:.:.:98,0,499,195,570,765	2	0	14	4
chr12	40482890	40482890	T	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	33722.39	1039	chr12	40482890	.	T	A,*	33722.39	.	AC=5,6;AF=0.208,0.250;AN=24;BaseQRankSum=0.827;DP=22349;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.5849;MLEAC=7,8;MLEAF=0.292,0.333;MQ=57.60;MQRankSum=-2.364e+01;QD=2.90;ReadPosRankSum=3.73;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:565,0,332:897:99:.:.:11657,13357,35616,0,22259,21210	1	0	5	9
chr12	40483015	40483015	A	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	481509.55	1118	chr12	40483015	.	A	G,*	481509.55	.	AC=32,2;AF=0.762,0.048;AN=42;BaseQRankSum=-3.082e+00;DP=19979;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=32,2;MLEAF=0.762,0.048;MQ=59.68;MQRankSum=0.00;QD=26.76;ReadPosRankSum=0.264;SOR=0.666	GT:AD:DP:GQ:PL	0/1:385,419,0:804:99:11616,0,10777,12770,12035,24805	1	12	6	0
chr12	40483097	40483127	AAGTGACAGGGACAACTAGACTATCAGCTGG	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1389	53348.35	934	chr12	40483097	.	AAGTGACAGGGACAACTAGACTATCAGCTGG	*,A	53348.35	.	AC=1,4;AF=0.028,0.111;AN=36;BaseQRankSum=3.48;DP=17275;ExcessHet=0.0409;FS=0.000;InbreedingCoeff=0.1809;MLEAC=1,4;MLEAF=0.028,0.111;MQ=59.58;MQRankSum=0.00;QD=15.51;ReadPosRankSum=0.406;SOR=0.695	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:476,0,324:800:99:.:.:12038,12701,32814,0,19504,18597	14	0	1	3
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2778	8717.76	817	chr12	40486405	.	G	A,GCTAGGGTGACAGAGAGTACTGGACTA	8717.76	.	AC=4,1;AF=0.222,0.056;AN=18;BaseQRankSum=4.98;DP=21353;ExcessHet=1.1607;FS=43.706;InbreedingCoeff=-0.3381;MLEAC=6,2;MLEAF=0.333,0.111;MQ=57.88;MQRankSum=-2.929e+01;QD=2.24;ReadPosRankSum=-4.094e+00;SOR=4.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:851,0,63:914:81:.:.:81,2646,37871,0,35220,35024	4	0	4	12
chr12	40486506	40486506	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:669,0,143,0:812:99:0|1:40486506_A_T:3914,5928,34010,0,28083,27652,5928,34010,28083,34010:40486506	3	0	1	10
chr12	40486506	40486506	A	0	exonic	MUC19	.	.	.	.	.	600	654	129	2	137	270	0.092297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17694.52	872	chr12	40486506	.	A	C,T,*	17694.52	.	AC=1,4,3;AF=0.045,0.182,0.136;AN=22;BaseQRankSum=1.05;DP=22443;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=1,6,4;MLEAF=0.045,0.273,0.182;MQ=57.77;MQRankSum=1.58;QD=2.24;ReadPosRankSum=-2.416e+00;SOR=1.006	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:669,0,143,0:812:99:0|1:40486506_A_T:3914,5928,34010,0,28083,27652,5928,34010,28083,34010:40486506	3	0	1	10
chr12	40486507	40486507	G	0	exonic	MUC19	.	.	.	.	.	596	657	130	2	137	271	0.0925414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3636	17618.27	872	chr12	40486507	.	G	C,*	17618.27	.	AC=5,3;AF=0.227,0.136;AN=22;BaseQRankSum=2.35;DP=22462;ExcessHet=3.5521;FS=7.761;InbreedingCoeff=-0.4483;MLEAC=7,4;MLEAF=0.318,0.182;MQ=57.78;MQRankSum=1.47;QD=2.22;ReadPosRankSum=-2.460e+00;SOR=1.005	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:680,143,0:823:99:0|1:40486506_A_T:3881,0,28106,5928,28536,34464:40486506	3	0	5	10
chr12	40486514	40486514	G	0	exonic	MUC19	.	.	.	.	.	645	616	122	2	137	263	0.0927835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	22747.23	860	chr12	40486514	.	G	A,*	22747.23	.	AC=7,2;AF=0.350,0.100;AN=20;BaseQRankSum=1.88;DP=22874;ExcessHet=4.7172;FS=5.882;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.550,0.150;MQ=58.09;MQRankSum=0.489;QD=2.52;ReadPosRankSum=-6.295e+00;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:707,153,0:860:99:0|1:40486506_A_T:4052,0,20961,6168,21420,27587:40486506	1	0	7	11
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1014.64	821	chr12	40488211	.	TGGGGTG	T	1014.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.168e+00;DP=14312;ExcessHet=0.3300;FS=3.578;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.19;MQRankSum=-2.361e+01;QD=0.32;ReadPosRankSum=-5.647e+00;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1069,99:1168:99:0|1:40488211_TGGGGTG_T:282,0,42622:40488211	18	0	3	0
chr12	40488214	40488214	G	0	exonic	MUC19	.	.	.	.	.	648	669	143	9	53	214	0.107405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	6754.42	821	chr12	40488214	.	G	T,*	6754.42	.	AC=4,2;AF=0.125,0.063;AN=32;BaseQRankSum=4.72;DP=14240;ExcessHet=1.8958;FS=4.372;InbreedingCoeff=-0.1785;MLEAC=5,2;MLEAF=0.156,0.063;MQ=58.50;MQRankSum=-1.232e+01;QD=1.41;ReadPosRankSum=-7.774e+00;SOR=1.191	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1069,0,99:1168:99:0|1:40488211_TGGGGTG_T:282,3181,47227,0,43248,42622:40488211	10	0	4	5
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	412.64	821	chr12	40488218	.	ACAGAGACAACTGGACAATCAGCTG	A	412.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-1.217e+00;DP=14189;ExcessHet=0.3300;FS=5.392;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=58.32;MQRankSum=-2.477e+01;QD=0.12;ReadPosRankSum=-6.200e+00;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1149,98:1247:36:0|1:40488211_TGGGGTG_T:36,0,46323:40488211	18	0	3	0
chr12	40488222	40488222	A	0	exonic	MUC19	.	.	.	.	.	668	663	143	10	38	201	0.109469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	32216.33	821	chr12	40488222	.	A	G,*	32216.33	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=0.891;DP=14011;ExcessHet=3.7745;FS=5.226;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.219,0.063;MQ=58.53;MQRankSum=-1.512e+01;QD=4.86;ReadPosRankSum=-8.904e+00;SOR=1.107	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1149,0,98:1247:36:0|1:40488211_TGGGGTG_T:36,3105,50294,0,46824,46323:40488211	8	0	6	5
chr12	40488224	40488224	A	0	exonic	MUC19	.	.	.	.	.	25	95	24	1	81	107	0.12037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	211896.28	821	chr12	40488224	.	A	G,T,*	211896.28	.	AC=18,2,2;AF=0.500,0.056,0.056;AN=36;BaseQRankSum=0.772;DP=14066;ExcessHet=0.3330;FS=0.000;InbreedingCoeff=0.0926;MLEAC=20,2,2;MLEAF=0.556,0.056,0.056;MQ=59.12;MQRankSum=0.00;QD=20.60;ReadPosRankSum=1.34;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|3:1149,0,0,98:1247:36:0|1:40488211_TGGGGTG_T:36,3105,50294,3105,50294,50294,0,46824,46824,46323:40488211	3	6	5	3
chr12	40488231	40488231	G	0	exonic	MUC19	.	.	.	.	.	640	765	79	12	26	129	0.0630741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	25357.79	821	chr12	40488231	.	G	*,T	25357.79	.	AC=2,6;AF=0.056,0.167;AN=36;BaseQRankSum=0.517;DP=13285;ExcessHet=3.7745;FS=5.683;InbreedingCoeff=-0.2250;MLEAC=2,7;MLEAF=0.056,0.194;MQ=58.57;MQRankSum=-1.600e+01;QD=3.94;ReadPosRankSum=-8.076e+00;SOR=1.218	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1149,98,0:1247:36:0|1:40488211_TGGGGTG_T:36,0,46323,3105,46824,50294:40488211	10	0	2	3
chr12	40488234	40488234	A	0	exonic	MUC19	.	.	.	.	.	655	769	59	13	26	111	0.0523722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	21813.94	821	chr12	40488234	.	A	T,*	21813.94	.	AC=5,2;AF=0.139,0.056;AN=36;BaseQRankSum=3.22;DP=13121;ExcessHet=2.7391;FS=7.380;InbreedingCoeff=-0.1784;MLEAC=6,2;MLEAF=0.167,0.056;MQ=58.57;MQRankSum=-1.943e+01;QD=3.85;ReadPosRankSum=-8.512e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1149,0,98:1247:36:0|1:40488211_TGGGGTG_T:36,3105,50294,0,46824,46323:40488211	11	0	5	3
chr12	40489602	40489602	G	0	exonic	MUC19	.	.	.	.	.	586	533	254	148	1	551	0.340347	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	89288.66	720	chr12	40489602	.	G	A,*	89288.66	.	AC=6,1;AF=0.150,0.025;AN=40;BaseQRankSum=4.13;DP=11489;ExcessHet=2.5830;FS=0.517;InbreedingCoeff=-0.2174;MLEAC=6,1;MLEAF=0.150,0.025;MQ=58.87;MQRankSum=1.10;QD=18.58;ReadPosRankSum=3.71;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,501,0:915:99:0|1:40489564_G_A:19574,0,15741,20820,17249,38069:40489564	13	0	6	1
chr12	40509053	40509053	T	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	561	887	71	3	0	77	0.0415991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796340531	3.486e-05	0.0002	3.413e-05	3.563e-05	.	5.78e-06	2.16e-06	.	.	0	0	0	0	0.0004	0	0	0	0	5.923e-05	0.0006	5.149e-05	6.731e-05	0.0002	3.081e-05	2.213e-05	6.279e-05	4.297e-05	0.0001	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.2222	243.92	150	chr12	40509053	.	T	A	243.92	.	AC=4;AF=0.222;AN=18;BaseQRankSum=-5.870e-01;DP=3382;ExcessHet=0.6776;FS=1.041;InbreedingCoeff=-0.3078;MLEAC=6;MLEAF=0.333;MQ=59.49;MQRankSum=-1.058e+01;QD=0.36;ReadPosRankSum=2.61;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,13:191:10:0|1:40509053_T_A:10,0,7421:40509053	5	0	4	12
chr12	40509056	40509056	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	559	887	73	3	0	79	0.0426336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305621476	1.742e-05	0.0002	0	3.572e-05	.	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.0005	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1667	223.58	151	chr12	40509056	.	G	A	223.58	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-8.510e-01;DP=3396;ExcessHet=0.3300;FS=1.041;InbreedingCoeff=-0.2842;MLEAC=5;MLEAF=0.278;MQ=59.51;MQRankSum=-1.061e+01;QD=0.46;ReadPosRankSum=2.69;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:178,13:191:10:0|1:40509053_T_A:10,0,7429:40509053	6	0	3	12
chr12	40509061	40509061	G	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	557	891	71	3	0	77	0.0414201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1348486958	3.908e-05	0.0002	3.806e-05	4.015e-05	2.421e-05	6.48e-06	2.42e-06	.	.	0	0	0	0	0.0002	0	2.421e-05	0	0	9.211e-05	0.0006	9.011e-05	9.421e-05	0.0003	5.535e-05	4.37e-05	0.0001	0.0001	0.0003	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1667	232.05	153	chr12	40509061	.	G	C	232.05	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-1.618e+00;DP=3425;ExcessHet=0.3300;FS=1.041;InbreedingCoeff=-0.2751;MLEAC=5;MLEAF=0.278;MQ=59.52;MQRankSum=-1.068e+01;QD=0.48;ReadPosRankSum=2.62;SOR=0.810	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,13:188:19:0|1:40509053_T_A:19,0,7309:40509053	6	0	3	12
chr12	40509062	40509062	A	C	exonic	MUC19	.	unknown	UNKNOWN,	.	.	557	890	72	3	0	78	0.0419806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239171133	3.865e-05	0.0002	3.759e-05	3.976e-05	2.401e-05	6.41e-06	2.4e-06	.	.	0	0	0	0	0.0002	0	2.401e-05	0	0	0	0.0004	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.1667	235.27	153	chr12	40509062	.	A	C	235.27	.	AC=3;AF=0.167;AN=18;BaseQRankSum=-9.720e-01;DP=3311;ExcessHet=0.3300;FS=1.049;InbreedingCoeff=-0.2775;MLEAC=5;MLEAF=0.278;MQ=59.52;MQRankSum=-1.068e+01;QD=0.48;ReadPosRankSum=2.59;SOR=0.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:175,13:188:19:0|1:40509053_T_A:19,0,7309:40509053	6	0	3	12
chr12	42460069	42460069	G	A	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon8:c.C2236T:p.P746S	Epilepsy, progressive myoclonic 1B, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	135472	Epilepsy,_progressive_myoclonic,_1B|not_specified|not_provided	MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.037	B	0.009	B	0.000	D	1.000	N	0.805	L	-1.99	D	-0.885	T	0.026	T	0.07	0.601	7.240	5.58	2.782	4.875	19.946	0.304	.	0.0016	0.0201677	0.0101	0.0004	0.0194	0.0864	0.0002	0.0021	0.0011	0.0070	0.0095018	1469	154602	rs3827522	0.0054	0.0054	0.0053	0.0055	0.0795	0.0053	0.0052	0.0772	0.0762	0.0004	0.0158	0.0021	0.0795	0.0003	0.0040	0.0025	0.0076	0.0071	0.0060	0.0060	0.0055	0.0065	0.0847	0.0057	0.0055	0.0781	0.0755	0.0007	0	0.0121	0.0017	0.0847	0.0007	0.0034	0.0027	0.0062	0.0108	0.018	0.50676	D	0.16	0.31427	T	0.037	0.20876	B	0.009	0.14300	B	0.000406	0.44736	D	0.225035	0.999826	0.20203	N	1.665	0.42610	L	-1.99	0.85320	D	-1.49	0.36385	N	0.104	0.14622	-0.8854	0.49324	T	0.026	0.11220	T	10	0.0017695427	0.00023	T	.	.	.	0.304	0.62510	.	.	.	.	0.3551184717963568	0.35425	0.394066426659	0.40570	0.341263651848	0.16627	T	0.145985	0.48338	T	-0.432641	0.01429	T	-0.31767	0.42829	T	0.0609070858450115	0.07310	T	0.746025	0.36642	T	0.08557991	0.19857	0.14977208	0.35349	0.07266875	0.16183	0.1339355	0.32104	-3.176	0.12190	T	0.19171987352439407	0.25166	0.077	0.06479	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.424381	0.47561	22.5	0.98131507539475249	0.38522	0.89993	0.50831	D	AEFBI	0.521986	0.54619	D	-0.177623512281458	0.34068	1.940114	-0.0573963437080761	0.37172	2.172883	0.999457632561927	0.39788	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	5.58	5.58	0.84361	7.547000	0.81094	5.769000	0.49731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.361000	0.25909	0.0:0.0:1.0:0.0	19.946	0.97182	503	0.75780	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.04762	1795.11	33	chr12	42460069	.	G	A	1795.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=825;ExcessHet=0.1072;FS=1.537;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=16.17;ReadPosRankSum=2.24;SOR=0.648	GT:AD:DP:GQ:PL	0/1:25,46:71:99:1288,0,625	19	0	2	0
chr12	42469464	42469464	C	T	exonic	PRICKLE1	.	nonsynonymous SNV	PRICKLE1:NM_001144881:exon4:c.G370A:p.A124T	Epilepsy, progressive myoclonic 1B, Autosomal recessive	.	1	1491	29	1	0	31	0.0102887	.	.	135473	Epilepsy,_progressive_myoclonic,_1B|not_specified|Childhood_epilepsy_with_centrotemporal_spikes	MONDO:MONDO:0012904,MedGen:C2676254,OMIM:612437,Orphanet:308|MedGen:CN169374|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.21	T	0.002	B	0.006	B	0.000	D	1.000	D	2.15	M	0.05	T	-0.892	T	0.019	T	0.178	2.831	15.43	3.55	1.413	1.908	12.584	0.099	.	0.0017	0.0273562	0.0135	0.0006	0.0195	0.0924	0.0002	0.0021	0.0044	0.0281	0.0125548	1941	154602	rs79087668	0.0067	0.0067	0.0061	0.0073	0.0834	0.0066	0.0066	0.0811	0.0801	0.0005	0.0158	0.0021	0.0834	0.0003	0.0045	0.0025	0.0097	0.0265	0.0071	0.0071	0.0060	0.0082	0.0910	0.0067	0.0066	0.0843	0.0816	0.0007	0	0.0122	0.0017	0.0910	0.0007	0.0034	0.0027	0.0062	0.0373	0.184	0.21634	T	0.256	0.23298	T	0.002	0.09854	B	0.006	0.12133	B	0.000124	0.49741	D	0.207611	0.999915	0.51042	D	0.845	0.21182	L	0.05	0.76561	T	-1.21	0.33197	N	0.078	0.15046	-0.8924	0.48722	T	0.019	0.08033	T	10	0.001621902	0.00019	T	.	.	.	0.099	0.28413	.	.	.	.	0.3095601302993247	0.30869	0.339430259153	0.35891	0.450280964375	0.31982	T	0.118743	0.43978	T	-0.468024	0.00875	T	-0.358207	0.38261	T	0.00760317014155403	0.00088	T	0.819018	0.50309	T	0.08712119	0.20275	0.12031081	0.29035	0.08903565	0.20790	0.12031081	0.29034	-5.203	0.38972	T	0.06110281018219036	0.01722	0.073	0.04723	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.598206	0.33719	19.42	0.99004866399912961	0.50231	0.81330	0.40756	D	AEFDGBHCI	0.186650	0.31395	N	-0.107796757099699	0.37053	2.150237	0.00894855236807661	0.40128	2.390033	0.999999983472388	0.74766	0.706548	0.73137	0	0.218748	0.04544	0	0.724815	0.87919	0	0.723	0.93126	0	.	.	5.41	3.55	0.39770	1.948000	0.39929	2.647000	0.33790	0.599000	0.40250	0.952000	0.33172	0.992000	0.31684	0.984000	0.60418	0.0:0.8578:0.0:0.1422	12.584	0.55761	502	0.75873	Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;Zinc finger, LIM-type;.	.	.	.	.	rs79087668	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	0.04762	1497.11	34	chr12	42469464	.	C	T	1497.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.756e+00;DP=843;ExcessHet=0.1072;FS=1.905;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.18;ReadPosRankSum=-1.470e+00;SOR=0.852	GT:AD:DP:GQ:PL	0/1:70,39:109:99:828,0,1942	19	0	2	0
chr12	45439818	45439818	C	G	exonic	ANO6	.	nonsynonymous SNV	ANO6:NM_001142679:exon20:c.C2670G:p.D890E,	Scott syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.0	B	0.0	B	.	.	1.000	N	0	N	-0.55	T	-1.047	T	0.119	T	0.035	0.562	7.039	-2.23	-0.648	-1.249	3.396	0.038	0.00974770263844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0039	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	4.069e-05	5.662e-05	0	0	0.0003	0.0002	9.079e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.55	0.71068	T	0.72	0.02099	N	0.103	0.08646	-1.0467	0.15332	T	0.119	0.41735	T	9	0.040973663	0.02713	T	0.009748	0.25449	T	0.038	0.09825	0.297	0.26202	0.221734844693	0.21761	.	.	.	.	.	.	.	.	.	.	-0.252914	0.13744	T	-0.60107	0.12721	T	0.0346802229247811	0.02754	T	0.192181	0.02062	T	.	.	.	.	.	.	.	.	-3.694	0.19230	T	.	.	0.159	0.35247	B	.	.	0.313626	0.06887	3.422	0.42230997187820268	0.03099	0.00592	0.02653	N	AEFBI	0.026279	0.01945	N	-1.72133448649868	0.00769	0.03320854	-1.77678337462465	0.00836	0.03736014	0.867500058919336	0.25347	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.22	-2.23	0.06539	-0.913000	0.04150	-2.612000	0.03549	-0.585000	0.04679	0.000000	0.06391	0.000000	0.08366	0.513000	0.29313	0.0:0.3519:0.2105:0.4377	3.396	0.06880	711	0.56613	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	480.11	138	chr12	45439818	.	C	G	480.11	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.045e+00;DP=1884;ExcessHet=0.3300;FS=215.676;InbreedingCoeff=-0.0848;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.04;ReadPosRankSum=3.46;SOR=10.597	GT:AD:DP:GQ:PL	0/1:149,47:196:99:275,0,3233	18	0	3	0
chr12	47978057	47978057	C	A	exonic	COL2A1	.	nonsynonymous SNV	COL2A1:NM_033150:exon43:c.G2857T:p.V953L	Achondrogenesis, type II or hypochondrogenesis, Autosomal dominant;Avascular necrosis of the femoral head, Autosomal dominant;Czech dysplasia, Autosomal dominant;Epiphyseal dysplasia, multiple, with myopia and deafness, Autosomal dominant;Kniest dysplasia, Autosomal dominant;Legg-Calve-Perthes disease, Autosomal dominant;Osteoarthritis with mild chondrodysplasia, Autosomal dominant;Otospondylomegaepiphyseal dysplasia, Autosomal recessive;Platyspondylic skeletal dysplasia, Torrance type, Autosomal dominant;SED congenita, Autosomal dominant;SMED Strudwick type, Autosomal dominant;Spondyloepiphyseal dysplasia, Stanescu type, Autosomal dominant;Spondyloperipheral dysplasia, Autosomal dominant;Stickler sydrome, type I, nonsyndromic ocular, Autosomal dominant;Stickler syndrome, type I, Autosomal dominant;Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)	YES	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.492	P	0.23	B	0.000	D	1.000	D	1.12	L	-3.19	D	0.455	D	0.709	D	0.471	3.883	19.73	5.39	2.517	2.185	17.932	0.418	0.0734176801487	.	.	8.543e-06	0	0	0	0	0	0	6.21e-05	1.29e-05	2	154602	rs199642249	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	.	.	0	0	0	0	0	0.0002	0	3.312e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.51853	D	0.31	0.22223	T	0.36	0.36976	B	0.161	0.38212	B	0.000001	0.62929	D	0.000000	0.999997	0.58761	D	1.145	0.29067	L	-3.19	0.93170	D	-1.5	0.37375	N	0.452	0.50868	0.455	0.89901	D	0.709	0.89980	D	10	0.43403444	0.57676	T	0.073418	0.71785	D	0.418	0.72780	0.355	0.35571	0.785298969826	0.78331	0.5170034956118461	0.51623	0.309757753492	0.33285	0.680987119675	0.64410	T	0.414235	0.76786	T	0.0634064	0.60039	T	-0.0460675	0.67291	D	0.535954537824837	0.33954	D	0.652935	0.26315	T	0.46143055	0.64760	0.2552888	0.51209	0.46143055	0.64761	0.2552888	0.51208	-4.651	0.33295	T	0.18814781869959546	0.24559	0.248	0.48272	B	.;.	.;.	4.281684	0.65228	24.8	0.99357183468452148	0.60862	0.94590	0.61662	D	AEFDBI	0.704479	0.66018	D	0.128224121499909	0.47782	2.999228	0.26008128902079	0.53223	3.492506	0.999996889514067	0.74766	0.833774	0.99917	0	0.610034	0.51514	0	0.0	0.00061	3	0.564101	0.26826	0	.	.	5.39	5.39	0.77615	4.157000	0.57925	6.015000	0.52706	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	17.932	0.88919	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1487.98	33	chr12	47978057	.	C	A	1487.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=803;ExcessHet=0.0000;FS=0.818;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.53;ReadPosRankSum=0.824;SOR=0.854	GT:AD:DP:GQ:PL	0/1:36,54:90:99:1502,0,844	20	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.928	P	0.503	P	0.000	D	0.817	N	1.76	L	-2.82	D	0.033	D	0.626	D	0.12	2.608	14.68	2.46	0.518	0.299	7.062	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2647	805.0	65	chr12	51706661	.	G	C	805.0	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-2.321e+00;DP=1362;ExcessHet=4.7172;FS=136.953;InbreedingCoeff=-0.3697;MLEAC=10;MLEAF=0.294;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=1.14;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,11:55:12:.:.:12,0,853	8	0	9	4
chr12	52568266	52568266	G	A	exonic	KRT74	.	nonsynonymous SNV	KRT74:NM_175053:exon7:c.C1258T:p.R420W,	Woolly hair, autosomal dominant, Autosomal dominant	.	0	1494	26	2	0	30	0.00994036	.	.	702378	KRT74-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.094	N	0.715	D	3.14	M	-2.67	D	0.707	D	0.783	D	0.572	3.548	18.10	3.66	1.216	0.520	5.128	0.439	0.0371077473507	0.0035	0.00279553	0.0036	0.0009	0.0038	0.0002	0.0003	0.0051	0.0022	0.0020	0.0039003	603	154602	rs139723680	0.0048	0.0048	0.0048	0.0048	0.0142	0.0047	0.0046	0.0117	0.0108	0.0007	0.0052	0.0055	7.557e-05	0.0008	0.0142	0.0053	0.0057	0.0021	0.0042	0.0042	0.0040	0.0045	0.0111	0.0040	0.0038	0.0097	0.0092	0.0009	0	0.0111	0.0043	0	0.0005	0.0034	0.0057	0.0061	0.0033	0.001	0.78490	D	0.037	0.51737	D	1.0	0.90584	D	0.997	0.86255	D	0.094164	0.20186	N	0.264219	0.715033	0.33558	D	3.03	0.86425	M	-2.67	0.90332	D	-7.6	0.95336	D	0.55	0.57604	0.707	0.93259	D	0.783	0.92617	D	10	0.03341353	0.01517	T	0.037108	0.57411	D	0.439	0.74306	.	.	0.700973683922	0.69838	0.2590875676119922	0.25822	0.149219269758	0.16824	0.282069683075	0.07783	T	0.77737	0.94091	D	-0.207277	0.19766	T	-0.0645427	0.66013	T	0.0687646594375696	0.08477	T	0.885311	0.61533	D	0.45637673	0.64445	0.5756772	0.75417	0.43675998	0.63193	0.4716973	0.69371	-9.176	0.68823	D	0.5263241318965546	0.59783	0.122	0.25495	B	.;.	.;.	3.852226	0.55811	23.7	0.999219758694875	0.98787	0.39268	0.26175	N	AEFBI	0.513523	0.54128	D	0.394544405660495	0.61126	4.309609	0.234087644980011	0.51750	3.354782	0.0014580272989168	0.08551	0.497415	0.19182	0	0.563428	0.19063	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.57	3.66	0.41111	0.044000	0.13876	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.0872:0.1474:0.6135:0.1519	5.128	0.14227	846	0.36215	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	7128.08	34	chr12	52568266	.	G	A	7128.08	.	AC=2;AF=0.048;AN=42;DP=925;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.55;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,219:219:99:7156,656,0	20	1	0	0
chr12	52773632	52773632	C	A	exonic	KRT76	.	stopgain	KRT76:NM_015848:exon3:c.G826T:p.E276X,	.	.	434	1057	27	4	0	35	0.0162866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	5.576	35	4.48	2.423	7.559	18.045	.	.	0.0075	0.00219649	0.0066	0.0019	0.0021	0	0.0070	0.0100	0.0066	0.0026	0.0067399	1042	154602	rs149868801	0.0088	0.0088	0.0089	0.0086	0.0111	0.0086	0.0086	0.0095	0.0095	0.0011	0.0021	0.0287	0	0.0053	0.0111	0.0097	0.0089	0.0032	0.0062	0.0063	0.0062	0.0063	0.0089	0.0059	0.0058	0.0084	0.0081	0.0017	0.0011	0.0018	0.0317	0	0.0094	0.0272	0.0089	0.0085	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	0.000423	0.44522	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.262	0.29659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.288857	0.82062	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	10.355728	0.99709	47	0.99648000475223408	0.77130	0.99171	0.92276	D	AEFDBI	0.238424	0.36054	N	1.04907529593213	0.97068	15.54151	0.855256360268074	0.93318	11.96511	0.999999329990999	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.48	4.48	0.53973	7.752000	0.84018	.	.	0.599000	0.40250	1.000000	0.71638	0.994000	0.32194	0.977000	0.56843	0.0:1.0:0.0:0.0	18.045	0.89255	578	0.69858	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	rs149868801	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	0.04762	3062.08	36	chr12	52773632	.	C	A	3062.08	.	AC=2;AF=0.048;AN=42;DP=891;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.23;SOR=0.896	GT:AD:DP:GQ:PL	1/1:0,95:95:99:3090,285,0	20	1	0	0
chr12	52949315	52949315	G	C	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon1:c.G142C:p.V48L	Cirrhosis, cryptogenic, Autosomal recessive	.	400	768	347	0	7	354	0.18428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.65	P	0.223	B	0.138	N	1.000	N	2.865	M	-1.57	D	-0.406	T	0.471	T	0.427	2.081	12.91	0.954	0.219	-0.441	7.665	0.446	0.210614070419	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1359140246	6.957e-07	0.0003	0	1.399e-06	3.037e-05	0	0	.	.	3.037e-05	0	0	0	0	0	0	0	0	0.0011	0.0092	0.0010	0.0012	0.0024	0.0010	0.0009	0.0013	0.0012	0.0003	0.0024	0.0008	0.0021	0	0.0016	0	0.0015	0.0016	0.0024	0.187	0.21385	T	0.404	0.14818	T	0.519	0.40644	P	0.111	0.37929	B	0.138376	0.18380	N	0.416972	1	0.81001	D	2.265	0.64440	M	-1.57	0.82347	D	-1.0	0.26422	N	0.082	0.05799	-0.4056	0.71850	T	0.471	0.79663	T	10	0.083414674	0.13874	T	0.210614	0.87261	D	0.446	0.74797	0.415	0.45380	0.860313002099	0.85896	0.7160274570190178	0.71545	0.531599379089	0.50652	0.573910236359	0.49230	T	0.147259	0.48525	T	0.0174853	0.54042	T	-0.21266	0.53441	T	0.265387445688248	0.23549	T	0.0516948	0.00385	T	0.047216356	0.08035	0.043877922	0.05557	0.047216356	0.08035	0.043877922	0.05557	-4.986	0.36687	T	0.2609872102591527	0.35238	0.319	0.56786	B	.;.;.	.;.;.	0.909457	0.12836	9.352	0.95101178256288821	0.26176	0.54699	0.29680	D	AEFDBHCI	0.804658	0.72946	D	-0.508296202011104	0.21811	1.160241	-0.604811601927955	0.19369	1.038886	0.999992841170832	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.600757	0.32118	0	0.638787	0.57140	0	.	.	3.79	0.954	0.18719	-0.106000	0.10860	.	.	-0.227000	0.07798	0.000000	0.06391	0.005000	0.19230	0.311000	0.24761	0.3008:0.0:0.6992:0.0	7.665	0.27595	769	0.49307	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	15089.32	89	chr12	52949315	.	G	A,C	15089.32	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.47;DP=1835;ExcessHet=54.0936;FS=3.984;InbreedingCoeff=-1.0000;MLEAC=20,1;MLEAF=0.476,0.024;MQ=56.35;MQRankSum=-9.015e+00;QD=8.31;ReadPosRankSum=-4.930e-01;SOR=1.108	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:50,24,0:74:99:0|1:52949249_G_A:857,0,2027,1008,2099,3107:52949249	0	0	20	0
chr12	53192439	53192439	G	C	exonic	ITGB7	.	nonsynonymous SNV	ITGB7:NM_000889:exon14:c.C2046G:p.I682M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.837	N	1.000	N	1.01	L	-1.62	D	-0.012	T	0.691	D	0.184	0.361	5.962	-2.21	-0.296	-0.630	5.954	0.150	0.0404551338484	.	.	9.908e-05	0	0	0	0	0	0.0055	0.0004	8.41e-05	13	154602	rs754910525	4.241e-05	4.241e-05	3.539e-05	4.95e-05	0.0003	3.376e-05	3.065e-05	0.0002	0.0002	0	0	0	0	1.872e-05	0	2.968e-05	6.623e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.203	0.20154	T	0.141	0.42261	T	0.0	0.02946	B	0.001	0.04355	B	0.837084	0.06977	N	1.094130	1	0.08975	N	1.1	0.28011	L	-1.62	0.89953	D	-0.19	0.09965	N	0.083	0.12198	-0.0123	0.82000	T	0.691	0.89334	D	10	0.06807226	0.09574	T	0.040455	0.59387	D	0.167	0.42761	0.435	0.48664	0.810698357934	0.80892	0.4524297103678786	0.45160	0.304004159144	0.32719	0.34367609024	0.16987	T	0.153696	0.49465	T	-0.311929	0.07579	T	-0.357881	0.38298	T	0.0103855888556171	0.00142	T	0.516048	0.17878	T	0.053570297	0.10158	0.049007658	0.07400	0.053570297	0.10157	0.049007658	0.07400	-3.777	0.20461	T	.	.	0.075	0.15788	B	.;.;.	.;.;.	0.389034	0.07609	4.268	0.82843558025221908	0.14404	0.07914	0.13901	N	AEFDGBCI	0.067560	0.13287	N	-0.7263544416823	0.15282	0.768883	-0.841318428889804	0.13495	0.7004286	0.999901857049008	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.514364	0.09456	0	0.645665	0.59343	0	.	.	4.83	-2.21	0.06581	-0.269000	0.08626	0.893000	0.22488	-0.127000	0.13314	0.000000	0.06391	0.005000	0.19230	0.789000	0.37270	0.3076:0.3557:0.3367:0.0	5.954	0.18499	735	0.53711	Integrin beta subunit, tail;Integrin beta subunit, tail;.	.	.	.	.	.	Likely benign	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	0.04762	3931.08	36	chr12	53192439	.	G	C	3931.08	.	AC=2;AF=0.048;AN=42;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.76;SOR=0.950	GT:AD:DP:GQ:PL	1/1:0,120:120:99:3959,360,0	20	1	0	0
chr12	54363394	54363394	G	A	exonic	GPR84	.	nonsynonymous SNV	GPR84:NM_020370:exon2:c.C458T:p.A153V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	1.0	D	0.991	D	0.000	D	1.000	D	0.89	L	-0.52	T	-0.552	T	0.368	T	0.759	4.080	21.0	5.02	2.496	2.102	16.201	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	972.57	59	chr12	54363394	.	G	A	972.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.390e+00;DP=1918;ExcessHet=6.1002;FS=237.561;InbreedingCoeff=-0.4326;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=0.851;SOR=11.822	GT:AD:DP:GQ:PL	0/1:81,32:124:35:35,0,1760	6	0	10	5
chr12	56099893	56099893	A	G	exonic	ERBB3	.	nonsynonymous SNV	ERBB3:NM_001982:exon25:c.A2993G:p.K998R,	Lethal congenital contractural syndrome 2, Autosomal recessive	.	0	1515	7	0	0	7	0.00230491	.	.	1152507	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.44	T	0.217	B	0.054	B	0.000	D	1.000	D	0.805	L	-0.89	T	-0.686	T	0.262	T	0.455	1.210	9.912	5.65	2.371	4.907	13.874	0.304	0.0518680316758	0.0005	0.000798722	0.0009	9.645e-05	0.0011	0	0	0.0007	0.0033	0.0031	0.000815	126	154602	rs56259600	0.0007	0.0007	0.0005	0.0008	0.0034	0.0006	0.0006	0.0031	0.0029	5.974e-05	0.0007	0.0077	0	1.872e-05	0.0016	0.0003	0.0010	0.0034	0.0005	0.0005	0.0004	0.0006	0.0037	0.0004	0.0004	0.0024	0.0020	7.215e-05	0	0.0006	0.0058	0	0	0	0.0003	0.0019	0.0037	0.372	0.27544	T	0.559	0.15355	T	0.056	0.30183	B	0.012	0.25828	B	0.000001	0.84330	D	0.000000	0.980053	0.44011	D	0.95	0.23787	L	-1.06	0.78314	T	-0.32	0.21860	N	0.126	0.21969	-0.6856	0.61113	T	0.262	0.63318	T	10	0.0085273385	0.00193	T	0.051868	0.64837	D	0.304	0.62510	.	.	0.912343839665	0.91146	0.3882789713026239	0.38742	0.30347720499	0.32673	0.553100168705	0.46295	T	0.310143	0.68212	T	-0.306335	0.08075	T	-0.215856	0.53135	T	0.0523448675249759	0.05906	T	0.770723	0.41012	T	0.073698305	0.16485	0.09735545	0.23168	0.08790027	0.20487	0.11173457	0.26954	-1.753	0.02462	T	0.1009843138153394	0.07511	0.074	0.09094	B	.;.;.;.;.	.;.;.;.;.	2.853338	0.37674	20.6	0.98988493471227068	0.49882	0.94564	0.61576	D	AEFBI	0.732950	0.67954	D	-0.181417957628085	0.33908	1.929216	-0.0159103643218254	0.38995	2.305567	0.999992326220118	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.63947	0.58350	0	.	.	5.65	5.65	0.86881	3.034000	0.49441	9.338000	0.80191	0.750000	0.87069	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	1.0:0.0:0.0:0.0	13.874	0.63139	458	0.78890	.;.;.;.;.	.	.	.	.	.	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	0.04762	4054.08	34	chr12	56099893	.	A	G	4054.08	.	AC=2;AF=0.048;AN=42;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.48;SOR=0.870	GT:AD:DP:GQ:PL	1/1:0,133:133:99:4082,399,0	20	1	0	0
chr12	56137228	56137228	T	G	exonic	ESYT1	.	nonsynonymous SNV	ESYT1:NM_001184796:exon17:c.T1823G:p.L608W	.	.	427	1088	7	0	0	7	0.0032066	.	.	3255973	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.997	D	0.027	N	1.000	D	2.275	M	-0.64	T	0.017	D	0.501	D	0.646	3.430	17.60	4.73	1.901	4.877	12.071	0.634	0.0966487206019	0.0003	0.000199681	0.0005	9.61e-05	0.0010	0	0	0.0006	0.0033	0.0003	0.0004269	66	154602	rs138187966	0.0004	0.0004	0.0004	0.0005	0.0007	0.0004	0.0004	0.0004	0.0004	5.974e-05	0.0006	0.0076	0	0	0.0007	0.0003	0.0009	0.0005	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	7.221e-05	0	0.0006	0.0058	0	0	0	0.0001	0.0014	0.0004	0.001	0.78490	D	0.001	0.83351	D	0.999	0.90584	D	0.995	0.86255	D	0.027403	0.25761	N	0.317042	0.99991	0.51042	D	2.93	0.84523	M	-0.64	0.72125	T	-4.38	0.77554	D	0.662	0.67132	0.017	0.82600	D	0.501	0.81159	D	10	0.027795404	0.00919	T	0.096649	0.76638	D	0.634	0.85975	.	.	0.768340348547	0.76621	0.5013327331732901	0.50055	.	.	0.609376311302	0.54227	T	0.297754	0.67034	T	-0.103351	0.35869	T	-0.0321995	0.68223	D	0.115094931676511	0.13943	T	0.756924	0.38041	T	0.29988173	0.52894	0.45229375	0.68138	0.29988173	0.52894	0.45229375	0.68139	-9.964	0.74449	D	.	.	0.177	0.38658	B	.;.	.;.	4.725393	0.76048	26.4	0.96195075138211927	0.29004	0.93350	0.57982	D	AEFBCI	0.757397	0.69636	D	0.619251109185778	0.74394	6.125138	0.554691810190109	0.71725	5.698712	0.999918882476281	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.73	4.73	0.59485	4.865000	0.62695	6.161000	0.54342	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.963000	0.52385	0.0:0.0:0.0:1.0	12.071	0.52914	348	0.85549	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	3390.08	35	chr12	56137228	.	T	G	3390.08	.	AC=2;AF=0.048;AN=42;DP=807;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.59;SOR=1.863	GT:AD:DP:GQ:PL	1/1:0,98:98:99:3418,294,0	20	1	0	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	B	0.014	B	.	.	1.000	N	.	.	0.86	T	-1.034	T	0.064	T	0.05	0.296	5.604	0.899	-0.131	1.411	4.156	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	801.6	63	chr12	56716773	.	G	C	801.6	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-3.814e+00;DP=1566;ExcessHet=6.1002;FS=143.092;InbreedingCoeff=-0.3330;MLEAC=10;MLEAF=0.238;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.671;SOR=10.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,17:77:99:0|1:56716773_G_C:184,0,1475:56716773	11	0	10	0
chr12	56716774	56716774	T	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.A4756G:p.T1586A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	B	0.006	B	.	.	1.000	N	.	.	0.87	T	-1.019	T	0.052	T	0.058	0.464	6.518	-1.65	0.024	-0.395	4.844	0.003	0.00228384647801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.672e-06	0.0001	1.634e-06	1.712e-06	2.097e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.097e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.719	0.05363	T	0.01	0.15535	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.47	0.03090	N	0.057	0.02861	-1.0187	0.24139	T	0.052	0.22269	T	7	0.052386343	0.05265	T	0.002284	0.04369	T	0.003	0.00094	0.231	0.15855	0.0551355673512	0.04727	.	.	.	.	.	.	.	0.05443	0.29723	T	-0.317768	0.07082	T	-0.694228	0.06147	T	0.0645078461183593	0.07859	T	0.325967	0.06723	T	0.04106803	0.05981	0.041717745	0.04806	0.04106803	0.05980	0.041717745	0.04805	-6.846	0.52900	T	.	.	0.134	0.29032	B	.	.	-0.114785	0.03555	0.684	0.19066523652983547	0.00627	0.13174	0.17706	N	AEFDBHCI	0.058886	0.11081	N	-1.18737061141861	0.05191	0.2360293	-1.27587405181014	0.04759	0.2252294	0.999971354431567	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	-1.65	0.07849	-3.807000	0.00406	-0.245000	0.10556	0.514000	0.23422	0.000000	0.06391	0.019000	0.20708	0.178000	0.21234	0.1834:0.5085:0.0:0.3081	4.844	0.12867	45	0.97767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	83.5	65	chr12	56716774	.	T	C	83.5	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-9.180e-01;DP=1431;ExcessHet=0.6776;FS=89.750;InbreedingCoeff=-0.0938;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.28;ReadPosRankSum=0.466;SOR=8.764	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,14:79:51:0|1:56716773_G_C:51,0,2253:56716773	17	0	4	0
chr12	57533300	57533300	C	T	exonic	DCTN2	.	nonsynonymous SNV	DCTN2:NM_001261412:exon8:c.G679A:p.A227T	.	.	430	1089	3	0	0	3	0.00137552	.	.	1693597	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	1.0	D	0.99	D	0.000	D	1.000	D	2.255	M	.	.	-0.381	T	0.422	T	0.487	4.760	26.7	5.05	2.800	4.466	17.710	0.567	0.00551967512263	0.0002	.	0.0003	0	0	0.0001	0	0.0004	0	0.0010	0.0003169	49	154602	rs200168725	0.0003	0.0003	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0008	2.987e-05	6.708e-05	0	0.0003	3.746e-05	0.0007	0.0002	0.0002	0.0010	0.0002	0.0002	0.0002	0.0001	0.0004	0.0001	8.715e-05	0.0002	0.0002	2.408e-05	0	0	0	0	0	0	0.0003	0	0.0004	0.002	0.72154	D	0.008	0.67890	D	1.0	0.90584	D	0.99	0.78936	D	0.000004	0.62929	D	0.103032	1	0.81001	D	1.62	0.41497	L	.	.	.	-3.25	0.65512	D	0.574	0.64733	-0.3807	0.72629	T	0.422	0.76677	T	9	0.20442232	0.36632	T	0.00552	0.14227	T	0.567	0.82346	.	.	0.493892876729	0.49021	0.4182581277402809	0.41741	0.322224007838	0.34417	0.618051528931	0.55453	T	0.468503	0.80241	T	-0.224342	0.17404	T	-0.16385	0.58004	T	0.147591843545172	0.16910	T	0.940606	0.77799	D	0.5252551	0.68560	0.56992096	0.75098	0.5252551	0.68562	0.56992096	0.75098	-5.786	0.46472	T	.	.	0.106	0.28027	B	.;.;.;.;.;.	.;.;.;.;.;.	4.817670	0.78441	26.9	0.99932927586883569	0.99488	0.97489	0.75080	D	AEFDBI	0.600411	0.59305	D	0.644463995398655	0.76010	6.40842	0.619133790384352	0.76329	6.471172	0.999999999749099	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.05	5.05	0.67566	4.608000	0.60847	7.663000	0.64347	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.935000	0.47363	0.0:1.0:0.0:0.0	17.710	0.88224	414	0.81871	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2715.08	35	chr12	57533300	.	C	T	2715.08	.	AC=2;AF=0.048;AN=42;DP=828;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.11;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2743,245,0	20	1	0	0
chr12	70329445	70329445	G	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G261C:p.R87S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	D	1.000	D	0.345	N	0.92	T	-1.057	T	0.062	T	0.889	2.525	14.40	5.5	2.586	5.433	17.588	0.205	0.0199199618014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.91255	T	0.606	0.92824	T	0.001	0.07471	B	0.001	0.04355	B	0.000002	0.62929	D	0.135296	1	0.81001	D	1.655	0.42436	L	0.9	0.45248	T	-0.27	0.81755	N	0.782	0.77883	-1.0570	0.12517	T	0.062	0.25744	T	10	0.30767742	0.48269	T	0.01992	0.42402	T	0.205	0.49236	0.376	0.38994	0.838669075583	0.83712	0.6548579403495524	0.65421	1.12346795644	0.78365	0.834287166595	0.87220	D	0.052155	0.31084	T	0.195589	0.73480	D	0.043173	0.73135	D	0.612958669662476	0.36920	D	0.974303	0.96130	D	0.2277501	0.45481	0.2625944	0.52053	0.2277501	0.45481	0.2625944	0.52052	-4.621	0.32435	T	.	.	0.975	0.90205	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.868160	0.56145	23.7	0.99070568821585203	0.51715	0.97563	0.75570	D	AEFBI	0.813048	0.73562	D	-0.250690058681778	0.31077	1.738953	0.00634029425290372	0.40007	2.380951	0.999999998541904	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	5.533000	0.66873	9.892000	0.82281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1010.98	33	chr12	70329445	.	G	C	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.543e+00;DP=1030;ExcessHet=0.0000;FS=236.903;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.22;ReadPosRankSum=0.569;SOR=7.522	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,42:123:99:0|1:70329445_G_C:1025,0,3104:70329445	20	0	1	0
chr12	70329450	70329450	T	C	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.T266C:p.M89T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.089	B	0.015	B	0.000	D	1.000	D	0.345	N	0.77	T	-1.055	T	0.070	T	0.9	2.394	13.96	5.5	2.090	7.698	14.188	0.286	0.0131236657606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0024	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.366e-05	0	0	2.54e-05	0	0	0.0002	0.0001	5.893e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.72154	T	0.373	0.58613	T	0.089	0.25085	B	0.015	0.17295	B	0.000002	0.62929	D	0.156649	0.999987	0.54805	D	1.39	0.34934	L	0.75	0.50192	T	-1.37	0.73151	N	0.791	0.78737	-1.0546	0.13145	T	0.070	0.28609	T	10	0.3466993	0.51619	T	0.013124	0.32271	T	0.286	0.60456	0.221	0.14371	0.702063244252	0.69947	0.5511041298698888	0.55036	1.14100540041	0.78923	0.857781887054	0.90783	D	0.084111	0.37206	T	0.247529	0.78369	D	0.117782	0.78087	D	0.656853437423706	0.38758	D	0.789921	0.45805	T	0.21835071	0.44341	0.21838577	0.46539	0.21835071	0.44341	0.21838577	0.46538	-4.093	0.25187	T	.	.	0.581	0.70259	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.987872	0.58674	24.0	0.9772757362070762	0.35598	0.97687	0.76416	D	AEFBI	0.932963	0.92412	D	-0.161537160210571	0.34744	1.986992	0.0781611403978821	0.43451	2.64668	0.999999326455377	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.674000	0.83146	7.864000	0.71599	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	14.188	0.65156	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.3333	1421.81	68	chr12	70329450	.	T	C	1421.81	.	AC=2;AF=0.333;AN=6;BaseQRankSum=-1.134e+00;DP=1381;ExcessHet=0.1072;FS=373.187;InbreedingCoeff=-0.3637;MLEAC=6;MLEAF=1.00;MQ=60.00;MQRankSum=0.00;QD=6.55;ReadPosRankSum=0.748;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,43:126:99:0|1:70329445_G_C:1061,0,3199:70329445	1	0	2	18
chr12	70329451	70329451	G	A	exonic	CNOT2	.	nonsynonymous SNV	CNOT2:NM_001199303:exon5:c.G267A:p.M89I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.0	B	0.0	B	0.000	D	1.000	D	0	N	0.96	T	-1.071	T	0.062	T	0.457	1.959	12.51	5.5	2.586	7.638	17.588	0.130	0.0103649765516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.043e-07	6.894e-07	1.406e-06	0	9.311e-07	0	0	.	.	0	0	0	0	0	0	9.311e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.41364	T	0.74	0.14725	T	0.0	0.02946	B	0.0	0.01387	B	0.000002	0.62929	D	0.156649	0.999898	0.50595	D	1.735	0.44892	L	0.94	0.43672	T	-0.39	0.57599	N	0.48	0.51851	-1.0708	0.09238	T	0.062	0.25708	T	10	0.23940006	0.41079	T	0.010365	0.26807	T	0.130	0.35528	0.277	0.23004	0.369524611565	0.36568	0.44334245260416183	0.44252	1.09812664247	0.77639	0.794959783554	0.81196	T	0.070289	0.33924	T	-0.0695512	0.41400	T	-0.337682	0.40607	T	0.759007751941681	0.43794	D	0.931607	0.77964	D	0.2108132	0.43389	0.21262307	0.45739	0.2108132	0.43389	0.21262307	0.45738	-3.813	0.20999	T	.	.	0.372	0.61506	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.889866	0.56592	23.8	0.97936597058958741	0.36999	0.97640	0.76089	D	AEFBI	0.924572	0.90281	D	-0.117543626066413	0.36629	2.119811	0.139756337599154	0.46603	2.903537	0.999961322651884	0.48965	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.5	5.5	0.81386	7.758000	0.84076	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	17.588	0.87887	716	0.55970	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.25	1418.14	68	chr12	70329451	.	G	A	1418.14	.	AC=2;AF=0.250;AN=8;BaseQRankSum=-1.967e+00;DP=1382;ExcessHet=0.1072;FS=373.187;InbreedingCoeff=-0.3333;MLEAC=5;MLEAF=0.625;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=0.684;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,43:126:99:0|1:70329445_G_C:1061,0,3199:70329445	2	0	2	17
chr12	70353915	70353915	A	-	exonic	CNOT2	.	nonframeshift deletion	CNOT2:NM_001199303:exon16:c.1623delA:p.X541X	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:5,8,3,0:16:22:158,0,128,64,22,97,156,118,136,246	3	0	8	0
chr12	70353915	70353915	-	A	exonic	CNOT2	.	nonframeshift insertion	CNOT2:NM_001199303:exon16:c.1623dupA:p.X541delinsX	.	.	869	502	37	12	102	163	0.057277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	2294.56	31	chr12	70353913	.	TAA	T,TA,TAAA	2294.56	.	AC=9,8,4;AF=0.214,0.190,0.095;AN=42;BaseQRankSum=0.709;DP=1081;ExcessHet=11.2363;FS=0.442;InbreedingCoeff=-0.4297;MLEAC=8,8,3;MLEAF=0.190,0.190,0.071;MQ=60.00;MQRankSum=0.00;QD=8.40;ReadPosRankSum=-2.490e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:5,8,3,0:16:22:158,0,128,64,22,97,156,118,136,246	3	0	8	0
chr12	102958405	102958405	-	GCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCA:p.Q62_A63insQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	4/4:0,0,0,0,21:21:64:940,940,940,940,940,940,940,940,940,940,64,64,64,64,0	6	1	11	0
chr12	102958405	102958405	-	GCAGCA	exonic	ASCL1	.	nonframeshift insertion	ASCL1:NM_004316:exon1:c.161_162insGCAGCA:p.Q62_A63insQQ,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	4/4:0,0,0,0,21:21:64:940,940,940,940,940,940,940,940,940,940,64,64,64,64,0	6	1	11	0
chr12	102958403	102958405	GCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.159_161del:p.Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	4/4:0,0,0,0,21:21:64:940,940,940,940,940,940,940,940,940,940,64,64,64,64,0	6	1	11	0
chr12	102958394	102958405	GCAGCAGCAGCA	-	exonic	ASCL1	.	nonframeshift deletion	ASCL1:NM_004316:exon1:c.150_161del:p.Q59_Q62del,	Central hypoventilation syndrome, congenital, Autosomal dominant;Haddad syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	254390	not_specified|Phenylketonuria	MedGen:CN169374|MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1416400102	0.0008	0.0008	0.0007	0.0008	0.0025	0.0007	0.0007	0.0021	0.0019	0.0025	0.0008	0.0058	0.0008	0	0.0012	0.0005	0.0013	0.0019	0.0015	0.0015	0.0013	0.0016	0.0029	0.0013	0.0013	0.0025	0.0023	0.0029	0	0.0012	0.0069	0.0004	0	0	0.0007	0.0014	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8950.5	47	chr12	102958393	.	CGCAGCAGCAGCA	CGCAGCAGCAGCAGCA,CGCAGCAGCAGCAGCAGCA,CGCAGCAGCA,C	8950.5	.	AC=13,1,1,2;AF=0.310,0.024,0.024,0.048;AN=42;BaseQRankSum=0.594;DP=762;ExcessHet=6.4157;FS=0.543;InbreedingCoeff=-0.2847;MLEAC=13,1,1,2;MLEAF=0.310,0.024,0.024,0.048;MQ=59.99;MQRankSum=0.00;QD=20.72;ReadPosRankSum=0.323;SOR=0.638	GT:AD:DP:GQ:PL	4/4:0,0,0,0,21:21:64:940,940,940,940,940,940,940,940,940,940,64,64,64,64,0	6	1	11	0
chr12	103706868	103706868	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon38:c.G4073A:p.G1358D,	.	.	9	1511	2	0	0	2	0.000661376	.	.	796677	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	0.000	D	1.000	D	2.645	M	-2.24	D	0.606	D	0.808	D	0.981	3.296	17.07	5.69	2.696	6.050	19.810	0.627	0.0335612262938	.	.	4.12e-05	0	8.642e-05	0.0001	0	1.499e-05	0	0.0001	3.23e-05	5	154602	rs754580231	4.994e-05	4.994e-05	4.356e-05	5.638e-05	0.0085	4.059e-05	3.734e-05	0.0066	0.0059	0	8.944e-05	0	7.557e-05	0	0.0085	7.194e-06	9.934e-05	3.478e-05	3.941e-05	3.94e-05	2.568e-05	5.378e-05	0.0006	1.715e-05	1.129e-05	0.0002	8.35e-05	0	0	6.541e-05	0	0.0006	0	0	1.47e-05	0.0005	0	0.008	0.58626	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	2.38	0.68558	M	-2.24	0.87194	D	-6.16	0.90215	D	0.454	0.49146	0.606	0.91977	D	0.808	0.93518	D	10	0.50323737	0.61670	D	0.033561	0.55066	D	0.627	0.85615	0.502	0.59460	0.824548846282	0.82288	0.6896543974369571	0.68905	0.501483017549	0.48529	0.596603095531	0.52425	T	0.552416	0.84869	D	0.194971	0.73422	D	0.306715	0.88505	D	0.809951782226562	0.47044	D	0.820618	0.47957	T	0.6789609	0.76913	0.6053834	0.77061	0.6789609	0.76914	0.6053834	0.77062	-6.647	0.51410	T	.	.	0.166	0.36535	B	.	.	4.030454	0.59597	24.1	0.99765353235836052	0.85417	0.97414	0.74598	D	AEFDBI	0.858689	0.77625	D	0.541532219505311	0.69569	5.375464	0.415780940567358	0.62546	4.471991	0.999999892588597	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	6.166000	0.71739	11.690000	0.94342	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.003000	0.05239	0.0:0.0:1.0:0.0	19.810	0.96539	865	0.32612	EGF-like domain|Laminin EGF domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	5308.08	39	chr12	103706868	.	G	A	5308.08	.	AC=2;AF=0.048;AN=42;DP=981;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.60;SOR=0.741	GT:AD:DP:GQ:PL	1/1:0,168:168:99:5336,503,0	20	1	0	0
chr12	103753331	103753331	A	G	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon61:c.A6692G:p.N2231S,	.	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.002	B	0.009	B	0.012	N	1.000	N	0.525	N	1.6	T	-1.006	T	0.026	T	0.019	-0.393	2.155	-4.41	-0.544	-0.293	2.050	0.072	0.00616903083084	.	.	8.239e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs549427644	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.805	0.03077	T	0.343	0.17857	T	0.002	0.09854	B	0.009	0.14300	B	0.012362	0.29198	N	0.335739	0.999972	0.18612	N	1.125	0.28843	L	1.6	0.28604	T	-0.89	0.24026	N	0.17	0.18103	-1.0062	0.28095	T	0.026	0.11131	T	10	0.045063317	0.03535	T	0.006169	0.16170	T	0.072	0.21020	0.571	0.69431	0.166414681773	0.16258	0.45708856149509147	0.45626	0.0684251949703	0.07659	0.33333325386	0.15437	T	0.058927	0.30978	T	-0.385455	0.02877	T	-0.791456	0.02125	T	0.0320203824432811	0.02310	T	0.725927	0.34027	T	0.029397242	0.02427	0.027801134	0.00961	0.029397242	0.02426	0.027801134	0.00961	-4.53	0.31279	T	.	.	0.065	0.02012	B	.	.	0.581495	0.09501	6.277	0.54331492955900507	0.05116	0.13850	0.18086	N	AEFDBI	0.323826	0.42590	N	-1.33815131350706	0.03249	0.1448239	-1.26439540478444	0.04921	0.2332956	0.267384147008628	0.18855	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.02	-4.41	0.03339	-0.447000	0.06901	0.148000	0.15257	-0.053000	0.16966	0.002000	0.15269	0.136000	0.23046	0.928000	0.46473	0.4449:0.2059:0.2489:0.1003	2.050	0.03351	904	0.23766	Link domain|Link domain|Link domain|Link domain	.	.	.	.	.	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	0.04762	3944.08	33	chr12	103753331	.	A	G	3944.08	.	AC=2;AF=0.048;AN=42;DP=985;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.81;SOR=0.759	GT:AD:DP:GQ:PL	1/1:0,124:124:99:3972,372,0	20	1	0	0
chr12	111598975	111598975	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	3	208	8	0	7	15	0.0188679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	490.28	31	chr12	111598975	.	C	T,*	490.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-1.004e+00;DP=1004;ExcessHet=0.3300;FS=8.241;InbreedingCoeff=-0.0786;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=6.63;ReadPosRankSum=1.48;SOR=1.479	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,5,0:19:99:1|0:111598949_GGCT_G:149,0,505,192,520,712:111598949	18	0	2	0
chr12	113005076	113005076	C	T	exonic	OAS2	.	nonsynonymous SNV	OAS2:NM_002535:exon7:c.C1322T:p.A441V	.	.	419	1101	2	0	0	2	0.000907441	.	.	3362915	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.98	D	0.494	P	0.025	N	1.000	N	2.295	M	1.69	T	-0.962	T	0.073	T	0.058	1.980	12.58	-3.01	-0.430	-0.467	0.146	0.105	0.0162128555176	.	.	4.13e-05	0	8.676e-05	0	0	6.005e-05	0	0	3.23e-05	5	154602	rs780629467	2.668e-05	2.668e-05	3.131e-05	2.2e-05	0.0014	1.997e-05	1.754e-05	0.0007	0.0005	0	4.472e-05	0	0	0	0.0014	2.428e-05	1.656e-05	1.159e-05	2.629e-05	2.627e-05	2.57e-05	2.691e-05	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.881e-05	0	0	0.046	0.40573	D	0.068	0.45530	T	0.98	0.59353	D	0.494	0.47478	P	0.025424	0.01630	N	2.744970	1	0.08975	N	2.66	0.77858	M	1.69	0.27032	T	-3.3	0.65858	D	0.124	0.11626	-0.9623	0.38742	T	0.073	0.29451	T	10	0.15062323	0.28485	T	0.016213	0.37354	T	0.105	0.29889	.	.	0.30212335484	0.29822	0.18077114377777978	0.17996	0.175416242646	0.19744	0.26268196106	0.05214	T	0.259065	0.63029	T	-0.432094	0.01440	T	-0.702084	0.05713	T	0.483736366033554	0.32034	T	0.364364	0.08448	T	0.035695765	0.04252	0.065610595	0.13322	0.035695765	0.04251	0.065610595	0.13321	-5.322	0.40160	T	.	.	0.117	0.30660	B	.;.;.	.;.;.	0.362136	0.07350	3.965	0.92916451715907644	0.22476	0.03399	0.08513	N	AEFGBI	0.072563	0.14487	N	-0.831499734111657	0.12510	0.6102328	-1.0444893457145	0.08822	0.4356681	0.00138210821318524	0.08495	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.655142	0.61905	0	.	.	4.43	-3.01	0.05132	-0.940000	0.04039	-2.472000	0.03712	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3018:0.236:0.1486:0.3136	0.146	0.00082	259	0.89842	.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1825.98	36	chr12	113005076	.	C	T	1825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.950e-01;DP=849;ExcessHet=0.0000;FS=2.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.34;ReadPosRankSum=0.295;SOR=0.710	GT:AD:DP:GQ:PL	0/1:72,76:148:99:1840,0,1713	20	0	1	0
chr12	121232610	121232610	G	T	splicing	P2RX4	NM_001261397:exon10:c.898-1G>T;NM_001256796:exon11:c.1027-1G>T;NM_002560:exon10:c.979-1G>T;NM_001261398:exon10:c.979-1G>T	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.656	14.84	5.26	2.445	9.296	17.841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190898	0.73046	D	0.036436	0.72695	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.653321	0.95543	35	0.99377978015328883	0.61759	0.99188	0.92529	D	AEFDBCI	.	.	.	1.07973542960396	0.97741	16.67429	0.897958384763386	0.95482	13.66483	0.999999999999786	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.068591	0.01938	0	0.195515	0.04268	0	0.977448	0.81113	5.26	5.26	0.73479	9.467000	0.96833	11.624000	0.93645	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.476000	0.28476	0.0:0.0:1.0:0.0	17.841	0.88628	527	0.73864	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	755.98	34	chr12	121232610	.	G	T	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.76;DP=815;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.79;ReadPosRankSum=0.075;SOR=0.794	GT:AD:DP:GQ:PL	0/1:68,29:97:99:770,0,1821	20	0	1	0
chr12	122584973	122584973	T	C	exonic	KNTC1	.	nonsynonymous SNV	KNTC1:NM_014708:exon36:c.T3517C:p.C1173R,	.	.	439	1080	3	0	0	3	0.00138696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.035	B	0.023	B	0.000	D	1.000	D	1.7	L	2.51	T	-1.101	T	0.035	T	0.529	0.305	5.655	4.75	1.029	1.522	12.565	0.196	0.00856594523639	.	.	0.0001	0	0	0	0	1.512e-05	0	0.0007	8.41e-05	13	154602	rs746410866	3.337e-05	3.559e-05	1.663e-05	5.021e-05	0.0007	2.584e-05	2.285e-05	0.0004	0.0003	0	2.243e-05	0	0	0	0.0007	0	3.354e-05	0.0005	6.571e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.032	0.44694	D	0.093	0.39799	T	0.035	0.20614	B	0.023	0.19966	B	0.000438	0.44522	D	0.241191	0.999933	0.81001	D	2.25	0.63811	M	2.51	0.14284	T	-3.0	0.62343	D	0.247	0.27910	-1.1011	0.03961	T	0.035	0.15204	T	10	0.077744186	0.12307	T	0.008566	0.22655	T	0.196	0.47777	0.664	0.80199	0.231231049324	0.22751	0.1376928691903483	0.13693	0.0538196573909	0.05943	0.316261053085	0.12855	T	0.035801	0.23858	T	-0.353169	0.04532	T	-0.380917	0.35614	T	0.102631941437721	0.12644	T	0.560744	0.19617	T	0.51935893	0.68223	0.38110462	0.63127	0.51935893	0.68224	0.38110462	0.63127	-3.206	0.12554	T	.	.	0.105	0.19235	B	.	.	1.585324	0.20279	14.68	0.67052989989372358	0.08240	0.97844	0.77553	D	AEFBI	0.448507	0.50371	N	-0.322852120911931	0.28282	1.558667	-0.211468724148681	0.31123	1.758445	0.999051034925274	0.38317	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.91	4.75	0.59954	1.488000	0.35160	0.805000	0.21696	0.665000	0.62972	1.000000	0.71638	0.619000	0.25806	0.014000	0.10232	0.0:0.0:0.139:0.861	12.565	0.55654	.	.	.	.	.	.	.	.	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	0.04762	2281.08	33	chr12	122584973	.	T	C	2281.08	.	AC=2;AF=0.048;AN=42;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.62;SOR=0.948	GT:AD:DP:GQ:PL	1/1:0,77:77:99:2309,231,0	20	1	0	0
chr12	124402521	124402521	-	GCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGC:p.Q509_P510insQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/1:3,46,2,0,0:51:46:1330,46,0,1319,85,2014,1403,160,1757,1761,1403,160,1757,1761,1761	0	1	2	0
chr12	124402521	124402521	-	GCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGC:p.Q509_P510insQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/1:3,46,2,0,0:51:46:1330,46,0,1319,85,2014,1403,160,1757,1761,1403,160,1757,1761,1761	0	1	2	0
chr12	124402521	124402521	-	GCTGCTGCTGCT	exonic	NCOR2	.	nonframeshift insertion	NCOR2:NM_001077261:exon16:c.1519_1520insAGCAGCAGCAGC:p.Q509_P510insQQQQ	.	.	0	15	9	3	199	214	0.333333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/1:3,46,2,0,0:51:46:1330,46,0,1319,85,2014,1403,160,1757,1761,1403,160,1757,1761,1761	0	1	2	0
chr12	124402513	124402521	GCTGCTGCT	-	exonic	NCOR2	.	nonframeshift deletion	NCOR2:NM_001077261:exon16:c.1520_1528del:p.Q507_Q509del	.	.	0	15	9	3	199	214	0.333333	.	.	3196719	NCOR2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221645	0.0099	0.0012	0.0160	0.0761	0	0.0011	0.0117	0.0168	0.0047283	731	154602	rs559681337	0.0048	0.0047	0.0044	0.0052	0.0945	0.0047	0.0047	0.0918	0.0908	0.0009	0.0120	0.0002	0.0945	0.0004	0.0020	0.0006	0.0064	0.0186	0.0046	0.0047	0.0039	0.0054	0.0687	0.0044	0.0042	0.0627	0.0604	0.0012	0	0.0060	0	0.0687	0.0008	0	0.0010	0.0048	0.0268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	32294.49	39	chr12	124402512	.	GGCTGCTGCT	GGCTGCTGCTGCTGCT,GGCTGCTGCTGCT,GGCTGCTGCTGCTGCTGCTGCT,G	32294.49	.	AC=7,20,5,1;AF=0.167,0.476,0.119,0.024;AN=42;BaseQRankSum=0.305;DP=1759;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=7,20,5,1;MLEAF=0.167,0.476,0.119,0.024;MQ=59.96;MQRankSum=0.00;QD=28.20;ReadPosRankSum=0.518;SOR=0.645	GT:AD:DP:GQ:PL	1/1:3,46,2,0,0:51:46:1330,46,0,1319,85,2014,1403,160,1757,1761,1403,160,1757,1761,1761	0	1	2	0
chr12	128697353	128697353	G	A	exonic	TMEM132C	.	nonsynonymous SNV	TMEM132C:NM_001136103:exon8:c.G2059A:p.E687K,	.	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.692	P	0.295	B	0.026	N	0.769	N	1.445	L	2.58	T	-1.101	T	0.034	T	0.114	2.540	14.45	3.22	0.838	5.238	12.302	0.115	0.00824123506097	.	.	5.039e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs779216390	2.144e-05	2.189e-05	1.692e-05	2.609e-05	0.0004	1.521e-05	1.32e-05	6.163e-05	2.854e-05	0	0	0	0	0	0.0004	1.298e-05	0.0001	8.84e-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	1.47e-05	0	0.0002	0.012	0.54683	D	0.005	0.72224	D	0.692	0.41662	P	0.295	0.40843	B	0.025686	0.26045	N	0.312805	0.768981	0.29458	N	1.725	0.44537	L	2.58	0.13434	T	-0.72	0.20358	N	0.131	0.12627	-1.1009	0.03984	T	0.034	0.14421	T	10	0.1711385	0.31816	T	0.008241	0.21827	T	0.115	0.32236	0.409	0.44395	0.043077524339	0.03247	0.5204736448152206	0.51970	0.130942968219	0.14771	0.378351092339	0.22021	T	0.007414	0.06818	T	-0.44197	0.01259	T	-0.582493	0.14323	T	0.197257682681084	0.20264	T	0.644036	0.25562	T	0.15819241	0.35603	0.10350988	0.24836	0.15819241	0.35603	0.10350988	0.24836	-5.236	0.39305	T	.	.	0.094	0.14431	B	.	.	3.506355	0.49079	22.7	0.99808402544042008	0.89264	0.94891	0.62688	D	AEFBI	0.510581	0.53957	D	-0.175045045918734	0.34176	1.947558	-0.223878022336323	0.30683	1.729679	0.148692594384734	0.17402	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	4.12	3.22	0.36041	5.608000	0.67336	7.176000	0.57738	0.618000	0.50648	1.000000	0.71638	0.999000	0.35428	0.682000	0.33600	0.0848:0.0:0.9152:0.0	12.302	0.54197	994	0.00715	Transmembrane protein family 132, middle domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1437.98	38	chr12	128697353	.	G	A	1437.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=933;ExcessHet=0.0000;FS=1.413;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.06;ReadPosRankSum=1.11;SOR=0.880	GT:AD:DP:GQ:PL	0/1:74,56:130:99:1452,0,1950	20	0	1	0
chr12	132066948	132066948	G	A	exonic	EP400	.	nonsynonymous SNV	EP400:NM_015409:exon49:c.G8728A:p.G2910S,	.	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	1.0	D	0.994	D	0.000	D	1.000	D	0.975	L	-2.62	D	0.504	D	0.721	D	0.759	3.720	18.89	4.85	2.244	5.381	11.463	0.510	0.057405597016	.	.	9.172e-05	0	0	0	0	0.0001	0	6.622e-05	7.12e-05	11	154602	rs199707864	0.0001	0.0001	0.0001	0.0001	0.0001	0.0001	9.578e-05	0.0001	0.0001	0	9.322e-05	0	0	1.891e-05	0	0.0001	0.0002	3.521e-05	0.0001	0.0001	0.0001	9.415e-05	0.0002	6.511e-05	5.322e-05	0.0001	7.894e-05	4.824e-05	0	6.541e-05	0	0	0	0	0.0002	0.0005	0	0.004	0.65419	D	0.1	0.38742	T	1.0	0.90584	D	0.962	0.70672	D	0.000000	0.84330	D	0.052091	0.945733	0.37499	D	.	.	.	-2.66	0.90272	D	-1.72	0.40850	N	0.662	0.67477	0.504	0.90602	D	0.721	0.90433	D	10	0.7262964	0.73996	D	0.057406	0.66953	D	0.510	0.78971	.	.	0.725493740301	0.72306	0.6132550393103818	0.61257	1.13977541105	0.78881	0.758713662624	0.75738	T	.	.	.	0.0602594	0.59646	T	0.128217	0.78776	D	0.319917768239975	0.25819	T	0.869313	0.57326	D	.	.	.	.	.	.	.	.	-2.538	0.06046	T	.	.	0.096	0.15296	B	.;.	.;.	4.984730	0.82600	27.8	0.9968883222111522	0.79775	0.97781	0.77086	D	AEFDBI	0.609393	0.59861	D	0.481992952447401	0.66040	4.898799	0.490239319889137	0.67341	5.071121	0.999999999540433	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.85	4.85	0.62375	4.623000	0.60948	11.649000	0.93865	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0831:0.0:0.9169:0.0	11.463	0.49465	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	651.98	33	chr12	132066948	.	G	A	651.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=708;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=1.99;SOR=0.582	GT:AD:DP:GQ:PL	0/1:21,22:43:99:666,0,563	20	0	1	0
chr12	132148891	132149110	CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	-	exonic	NOC4L	.	frameshift deletion	NOC4L:NM_024078:exon9:c.897_901del:p.D299Efs*25,	.	.	422	945	57	36	62	191	0.063893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0042	0.0039	0.0041	0.0054	0.0037	0.0036	0.0045	0.0041	0.0042	0.0068	0.0054	0.0069	0.0014	0.0029	0.0072	0.0037	0.0095	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	21208.18	31	chr12	132148890	.	ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,ACCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC,A,ACCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC	21208.18	.	AC=13,7,1,1;AF=0.310,0.167,0.024,0.024;AN=42;BaseQRankSum=0.920;DP=1350;ExcessHet=3.4384;FS=1.805;InbreedingCoeff=-0.1455;MLEAC=13,7,1,1;MLEAF=0.310,0.167,0.024,0.024;MQ=59.50;MQRankSum=-2.060e-01;QD=21.38;ReadPosRankSum=-1.910e-01;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:31,0,0,0,41:72:99:0|1:132148890_ACCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCC_A:1281,1375,2673,1375,2673,2673,1375,2673,2673,2673,0,1298,1298,1298,1189:132148890	4	2	6	0
chr13	21155813	21155813	-	GGAG	splicing	SKA3	NM_145061:exon8:c.1120-2->CTCC	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.943e-05	4.936e-05	2.111e-05	1.784e-05	.	1.242e-05	1.001e-05	.	.	0	0	0	0	0.0004	0	0	0	0	0.0005	0.0005	0.0003	0.0006	0.0022	0.0004	0.0003	0.0012	0.0009	0.0002	0	0.0007	0.0003	0.0006	0.0010	0	0.0004	0.0015	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	23464.59	54	chr13	21155813	.	T	TA,TAA,TGGAG	23464.59	.	AC=16,16,1;AF=0.381,0.381,0.024;AN=42;BaseQRankSum=-6.120e-01;DP=1495;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0104;MLEAC=16,16,1;MLEAF=0.381,0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=23.19;ReadPosRankSum=0.381;SOR=0.664	GT:AD:DP:GQ:PL	2/3:0,0,45,35:82:99:2971,2976,2991,1442,1446,1299,1642,1661,0,2198	1	1	4	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA	splicing	SKA3	NM_145061:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->TCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	0.0003	0.0003	0.0002	0.0005	0.0019	0.0003	0.0003	0.0011	0.0008	3.125e-05	9.925e-05	0.0002	0.0007	0.0005	0.0019	0.0003	0.0002	0.0002	7.913e-05	0.0002	9.03e-05	6.744e-05	0.0002	4.511e-05	3.524e-05	7.94e-05	6.017e-05	0	0	0	0	0.0002	0	0	0.0001	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/2:76,0,33:109:99:1147,1386,4582,0,3196,3097	17	0	1	0
chr13	21159988	21159988	-	ACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	splicing	SKA3	NM_145061:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT;NM_001166017:exon6:c.830-1->CAGAATCCAGGCTCAATGATAATGTTTTTGCCACTCCCAGCCCCATCATCCAGCAGTTGGAAAAAAGT	.	.	.	.	437	1077	1	0	7	8	0.000464037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0009	0.0005	0.0013	0.0016	0.0009	0.0009	0.0013	0.0012	0.0001	0.0004	0.0002	0.0016	0.0036	0.0011	0.0009	0.0009	0.0006	9.245e-05	0.0006	5.162e-05	0.0001	0.0004	5.554e-05	4.386e-05	6.934e-05	5.109e-05	2.419e-05	0	6.588e-05	0	0.0004	9.537e-05	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4035.12	33	chr13	21159988	.	C	CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGA,CACTTTTTTCCAACTGCTGGATGATGGGGCTGGGAGTGGCAAAAACATTATCATTGAGCCTGGATTCTG	4035.12	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=3.98;DP=1193;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-1.630e+00;SOR=0.714	GT:AD:DP:GQ:PL	0/2:76,0,33:109:99:1147,1386,4582,0,3196,3097	17	0	1	0
chr13	24700745	24700745	A	G	splicing	ATP12A	NM_001676:exon13:c.1706-2A>G;NM_001185085:exon13:c.1724-2A>G	.	.	.	.	0	225	1	0	0	1	0.00221729	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.193	16.69	6.17	2.371	9.228	14.774	.	.	7.7e-05	0.000599042	0.0002	0	0.0003	0	0	4.527e-05	0	0.0011	0.0001811	28	154602	rs138823801	6.024e-05	6.088e-05	3.541e-05	8.534e-05	0.0008	4.965e-05	4.63e-05	0.0007	0.0006	0	0.0001	0	0	0	0.0005	7.199e-06	1.657e-05	0.0008	3.941e-05	3.938e-05	1.285e-05	6.717e-05	0.0010	1.715e-05	1.129e-05	0.0004	0.0003	0	0	0	0	0	0	0	1.47e-05	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00264522	0.51289	T	0.167076	0.81234	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.408138	0.95161	34	0.99479660333643938	0.66795	0.99345	0.94800	D	AEFDBI	.	.	.	1.15431775937777	0.99019	20.30047	1.00495593144531	0.98721	19.14825	0.999999999547673	0.74766	0.053691	0.00478	0	0.059962	0.00310	0	0.063197	0.01477	0	0.062806	0.01542	0	0.95749	0.64196	6.17	6.17	0.99707	9.215000	0.94270	7.108000	0.57557	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.626000	0.32052	1.0:0.0:0.0:0.0	14.774	0.69335	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2916.08	36	chr13	24700745	.	A	G	2916.08	.	AC=2;AF=0.048;AN=42;DP=802;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=29.46;SOR=1.384	GT:AD:DP:GQ:PL	1/1:0,99:99:99:2944,297,0	20	1	0	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9,	.	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	20220.35	244	chr13	25097016	.	AGACGGAACT	A,AGAACT	20220.35	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.45;DP=4626;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.33;MQRankSum=-1.066e+01;QD=4.53;ReadPosRankSum=-8.050e-01;SOR=1.221	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,82,0:300:99:0|1:25097005_A_G:2783,0,8907,3439,9154,12593:25097005	4	0	16	0
chr13	25097021	25097021	G	0	exonic	PABPC3	.	.	.	.	.	424	831	13	0	254	267	0.00776119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	597.61	244	chr13	25097021	.	G	T,*	597.61	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.31;DP=4600;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.15;MQRankSum=-1.027e+01;QD=0.13;ReadPosRankSum=-6.340e-01;SOR=1.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:218,0,82:300:99:0|1:25097005_A_G:2783,3439,12593,0,9154,8907:25097005	4	0	1	0
chr13	25097025	25097030	TTAAGC	0	exonic	PABPC3	.	.	.	.	.	431	824	13	0	254	267	0.00782661	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	616.58	244	chr13	25097025	.	TTAAGC	T,*	616.58	.	AC=1,16;AF=0.024,0.381;AN=42;BaseQRankSum=1.65;DP=4638;ExcessHet=25.1139;FS=4.708;InbreedingCoeff=-0.6800;MLEAC=1,16;MLEAF=0.024,0.381;MQ=59.18;MQRankSum=-1.037e+01;QD=0.14;ReadPosRankSum=-4.370e-01;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:218,0,82:300:99:0|1:25097005_A_G:2783,3439,12593,0,9154,8907:25097005	4	0	1	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	19605.59	231	chr13	25097030	.	C	T,*	19605.59	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.79;DP=4585;ExcessHet=25.1139;FS=4.555;InbreedingCoeff=-0.6800;MLEAC=16,1;MLEAF=0.381,0.024;MQ=59.30;MQRankSum=-1.040e+01;QD=4.43;ReadPosRankSum=-8.070e-01;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:222,82,0:304:99:0|1:25097005_A_G:2751,0,9013,3419,9259,12678:25097005	4	0	16	0
chr13	27924565	27924565	C	A	exonic	PDX1	.	nonsynonymous SNV	PDX1:NM_000209:exon2:c.C716A:p.P239Q,	MODY, type IV;Pancreatic agenesis 1, Autosomal recessive	.	3	1509	10	0	0	10	0.00330251	.	.	135327	Maturity_onset_diabetes_mellitus_in_young|not_provided|Pancreatic_hypoplasia|Maturity-onset_diabetes_of_the_young_type_4|not_specified|Monogenic_diabetes	Human_Phenotype_Ontology:HP:0004904,MONDO:MONDO:0018911,MedGen:C0342276,OMIM:606391,Orphanet:552|MedGen:C3661900|Human_Phenotype_Ontology:HP:0002594,Human_Phenotype_Ontology:HP:0005221,MedGen:C0266267|MONDO:MONDO:0011667,MedGen:C1833382,OMIM:606392,Orphanet:552|MedGen:CN169374|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.11	T	0.024	B	0.018	B	0.032	N	0.992	N	0.345	N	-2.9	D	-0.628	T	0.317	T	0.081	2.044	12.79	2.78	2.287	1.203	4.480	0.221	.	0.0056	0.00638978	0.0105	0.0324	0.0051	0.0037	0.0112	0.0098	0.0132	0.0094	0.0032341	500	154602	rs199644078	0.0044	0.0043	0.0044	0.0045	0.0252	0.0043	0.0043	0.0237	0.0231	0.0252	0.0032	0.0032	0.0006	0.0078	0.0028	0.0038	0.0052	0.0060	0.0094	0.0094	0.0096	0.0092	0.0235	0.0090	0.0088	0.0223	0.0218	0.0235	0	0.0058	0.0040	0.0008	0.0042	0.0068	0.0036	0.0147	0.0052	0.015	0.52492	D	0.193	0.28210	T	0.024	0.19075	B	0.018	0.18489	B	0.031997	0.25092	N	0.392854	0.992276	0.23908	N	0.69	0.16971	N	-2.9	0.91643	D	0.14	0.05405	N	0.238	0.26837	-0.6285	0.63635	T	0.317	0.68682	T	10	0.0057828426	0.00129	T	.	.	.	0.221	0.51721	.	.	0.598325952365	0.59513	0.5786849918005884	0.57797	0.999121115232	0.74354	0.786996901035	0.79985	T	0.53164	0.83803	D	-0.430026	0.01482	T	-0.367481	0.37182	T	0.00941826383111213	0.00121	T	0.487551	0.14930	T	0.078998126	0.18022	0.109930314	0.26499	0.078998126	0.18022	0.109930314	0.26499	-5.574	0.42554	T	.	.	0.094	0.14614	B	.	.	2.455609	0.31623	18.80	0.97524452009215323	0.34421	0.49883	0.28535	N	AEFDBHCI	0.152712	0.27744	N	-0.450865867955829	0.23711	1.275199	-0.328608669544254	0.27179	1.506335	0.991196388752651	0.32405	0.59774	0.34471	0	0.59043	0.45803	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	4.68	2.78	0.31702	0.961000	0.28864	2.833000	0.35033	0.502000	0.22824	0.695000	0.28578	0.995000	0.32472	0.002000	0.04165	0.1657:0.5996:0.1422:0.0925	4.480	0.11175	923	0.18507	.	.	.	.	.	.	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	0.04762	2105.11	78	chr13	27924565	.	C	A	2105.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.65;DP=842;ExcessHet=0.1072;FS=1.444;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.13;ReadPosRankSum=-4.700e-02;SOR=0.872	GT:AD:DP:GQ:PL	0/1:42,29:71:99:865,0,1094	19	0	2	0
chr13	32078842	32078842	G	A	exonic	FRY	.	nonsynonymous SNV	FRY:NM_023037:exon2:c.G79A:p.V27I,	.	.	.	.	.	.	.	.	.	.	.	753785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.33	T	0.186	B	0.02	B	0.000	D	1.000	D	0.755	N	1.91	T	-1.109	T	0.050	T	0.36	2.727	15.08	5.83	2.770	9.112	20.134	0.161	0.00657653362465	0.0005	0.00119808	0.0005	0.0028	0	0.0001	0	0.0004	0.0011	0	0.0004528	70	154602	rs35417728	0.0002	0.0002	0.0002	0.0002	0.0031	0.0002	0.0002	0.0027	0.0025	0.0031	0.0001	0.0041	7.557e-05	3.745e-05	0	4.947e-05	0.0005	3.478e-05	0.0009	0.0009	0.0010	0.0009	0.0028	0.0008	0.0008	0.0024	0.0023	0.0028	0	0	0.0029	0.0002	0	0	0.0001	0.0019	0.0002	0.124	0.27426	T	0.585	0.31833	T	0.186	0.29254	B	0.02	0.19048	B	0.000008	0.62929	D	0.065554	0.999985	0.54805	D	1.645	0.42016	L	1.91	0.23283	T	-0.2	0.15379	N	0.387	0.69737	-1.1091	0.03148	T	0.050	0.21417	T	10	0.0094097555	0.00212	T	0.006577	0.17358	T	0.161	0.41658	.	.	0.102598925029	0.09809	0.2581974354863529	0.25733	0.37558572423	0.39016	0.63571614027	0.57956	T	0.007008	0.09641	T	-0.425422	0.01581	T	-0.386916	0.34914	T	0.0952453814932917	0.11825	T	0.935306	0.78426	D	0.0825516	0.19022	0.12248735	0.29545	0.0825516	0.19022	0.12248735	0.29544	-3.729	0.19747	T	.	.	0.094	0.20625	B	.;.;.;.;.	.;.;.;.;.	3.817588	0.55106	23.6	0.99591797977128949	0.73631	0.98747	0.86334	D	AEFBI	0.828188	0.74733	D	0.0720371036152825	0.45161	2.777376	0.252670209139187	0.52800	3.45255	0.999999999999583	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.836244	0.99985	0	.	.	5.83	5.83	0.93059	9.319000	0.95469	7.211000	0.57822	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.690000	0.33838	0.0:0.0:1.0:0.0	20.134	0.98010	952	0.10565	.;.;.;.;.	.	.	.	.	.	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	0.02381	1005.98	33	chr13	32078842	.	G	A	1005.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.48;ReadPosRankSum=-1.478e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:28,37:65:99:1020,0,664	20	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L,	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.951	P	0.409	B	0.000	N	1.000	D	2.865	M	1.88	T	-0.981	T	0.091	T	0.248	3.297	17.08	4.14	0.938	4.903	8.428	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	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	0.3571	1573.08	134	chr13	38859428	.	G	C	1573.08	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-4.318e+00;DP=3120;ExcessHet=17.4423;FS=268.600;InbreedingCoeff=-0.5351;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=0.70;ReadPosRankSum=0.855;SOR=13.744	GT:AD:DP:GQ:PL	0/1:120,42:176:3:3,0,2030	6	0	15	0
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.0	B	0.384	N	1.000	N	-1.1	N	1.03	T	-1.049	T	0.025	T	0.042	-1.565	0.015	-6.75	-1.034	0.234	0.459	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	7061.0	123	chr13	42303097	.	G	C	7061.0	.	AC=20;AF=0.500;AN=40;BaseQRankSum=-4.570e+00;DP=3154;ExcessHet=43.6797;FS=339.584;InbreedingCoeff=-0.9521;MLEAC=21;MLEAF=0.525;MQ=60.00;MQRankSum=0.00;QD=2.48;ReadPosRankSum=0.878;SOR=13.486	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:116,24:140:18:.:.:18,0,3620	0	0	20	1
chr13	49630893	49630893	G	A	exonic	ARL11	.	stopgain	ARL11:NM_138450:exon2:c.G446A:p.W149X,	.	.	416	1056	49	1	0	51	0.0235784	.	.	702719	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	4.810	27.2	5.32	2.490	3.559	17.994	.	.	0.0080	0.00579073	0.0099	0.0011	0.0073	0	0.0068	0.0133	0.0165	0.0100	0.0096894	1498	154602	rs34301344	0.0097	0.0097	0.0095	0.0098	0.0225	0.0095	0.0095	0.0193	0.0181	0.0017	0.0078	0.0214	0	0.0062	0.0225	0.0101	0.0097	0.0107	0.0080	0.0080	0.0080	0.0079	0.0112	0.0076	0.0074	0.0106	0.0103	0.0016	0.0329	0.0097	0.0187	0.0004	0.0063	0.0238	0.0112	0.0104	0.0083	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.259	0.29313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.275648	0.80940	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.128608	0.98504	39	0.99204731995395834	0.55381	0.95789	0.66160	D	AEFDBI	0.082690	0.16746	N	0.707159327269664	0.80103	7.220512	0.539516920279059	0.70672	5.53964	0.999999996113154	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.32	5.32	0.75377	3.180000	0.50595	11.047000	0.85249	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.527000	0.29637	0.0:0.0:1.0:0.0	17.994	0.89101	414	0.81871	.	.	.	.	.	rs34301344	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	0.07143	5609.68	38	chr13	49630893	.	G	A	5609.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.798;DP=1082;ExcessHet=0.3300;FS=2.490;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-8.600e-02;SOR=0.874	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,75:134:99:1|0:49630889_T_C:2124,0,2189:49630889	18	0	3	0
chr13	50015581	50015581	C	T	exonic	KCNRG	.	nonsynonymous SNV	KCNRG:NM_173605:exon1:c.C88T:p.R30C	.	.	431	1089	2	0	0	2	0.000917431	.	.	3265025	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.982	D	0.001	N	1.000	D	2.585	M	0.82	T	-0.765	T	0.249	T	0.836	1.578	11.23	1.02	-0.132	0.549	5.548	0.347	0.0449969296184	.	.	6.591e-05	0	0.0002	0.0003	0	2.997e-05	0.0011	0	5.17e-05	8	154602	rs758273779	2.394e-05	2.394e-05	2.314e-05	2.475e-05	0.0002	1.739e-05	1.539e-05	0.0001	0.0001	0	0.0002	0	2.519e-05	0	0.0002	1.889e-05	0	1.159e-05	3.287e-05	3.284e-05	3.856e-05	2.691e-05	6.546e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.546e-05	0	0	0	0	5.881e-05	0	0	0.037	0.43085	D	0.04	0.53072	D	1.0	0.90584	D	0.982	0.75477	D	0.001022	0.40562	N	0.161007	0.995113	0.81001	D	2.93	0.84523	M	0.82	0.48142	T	-2.04	0.52451	N	0.647	0.65844	-0.7653	0.57115	T	0.249	0.61809	T	10	0.6756675	0.70976	D	0.044997	0.61764	D	0.347	0.66863	.	.	0.732431101164	0.73004	0.5105274050058206	0.50974	0.273349000782	0.29833	0.329230248928	0.14818	T	0.554084	0.84954	D	-0.0738092	0.40718	T	-0.0744985	0.65303	T	0.8477383852005	0.49971	D	0.90021	0.65919	D	0.07639404	0.17274	0.06478362	0.13036	0.07639404	0.17274	0.06478362	0.13036	-7.082	0.54631	T	.	.	0.215	0.52035	B	.;.	.;.	2.005598	0.25481	16.78	0.99368677884075074	0.61326	0.60945	0.31341	D	AEFDGBIJ	0.098571	0.19859	N	-0.11503098187237	0.36739	2.12761	-0.303993083626246	0.27970	1.555884	0.999981242942486	0.51787	0.50712	0.20391	0	0.379588	0.06130	0	0.658105	0.52812	0	0.692231	0.68500	0	.	.	5.84	1.02	0.19102	0.564000	0.23265	-0.975000	0.06732	-0.184000	0.09925	0.993000	0.37899	0.000000	0.08366	0.133000	0.19684	0.4883:0.3033:0.0:0.2084	5.548	0.16362	618	0.66225	.;Potassium channel tetramerisation-type BTB domain|BTB/POZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2110.98	35	chr13	50015581	.	C	T	2110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=-6.880e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/1:56,77:133:99:2125,0,1365	20	0	1	0
chr13	51251837	51251837	C	T	exonic	FAM124A	.	nonsynonymous SNV	FAM124A:NM_001242312:exon3:c.C470T:p.T157M	.	.	425	1095	2	0	0	2	0.000912409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	1.0	D	0.999	D	0.000	D	1.000	D	0.765	N	1.11	T	-0.984	T	0.169	T	0.772	3.065	16.23	5.79	2.735	5.761	19.015	0.212	0.0154834486804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.421	0.11120	T	0.91	0.30241	T	1.0	0.90584	D	0.998	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.885	0.21608	L	1.11	0.38883	T	-0.83	0.22727	N	0.439	0.55886	-0.9844	0.33975	T	0.169	0.50939	T	10	0.44073927	0.58085	T	0.015483	0.36235	T	0.212	0.50341	0.378	0.39319	0.751089042604	0.74883	0.4785160294703443	0.47771	0.965881282341	0.73180	0.695666670799	0.66519	T	0.003094	0.02494	T	0.0649467	0.60229	T	-0.144485	0.59727	T	0.953530251979828	0.64047	D	0.930507	0.74278	D	0.10195567	0.24087	0.13719377	0.32800	0.10195567	0.24087	0.13719377	0.32799	-8.506	0.64469	D	.	.	0.178	0.42806	B	.;.;.	.;.;.	4.880397	0.80035	27.2	0.99736902395873273	0.83192	0.96094	0.67505	D	AEFDBI	0.727722	0.67597	D	0.51998248635547	0.68271	5.194435	0.565525192402274	0.72485	5.817177	0.999999999996684	0.74766	0.631515	0.41029	0	0.547309	0.14657	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.79	5.79	0.91751	5.835000	0.69073	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.778000	0.36829	0.0:1.0:0.0:0.0	19.015	0.92866	899	0.25060	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	554.98	38	chr13	51251837	.	C	T	554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=778;ExcessHet=0.0000;FS=6.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=-4.390e-01;SOR=1.641	GT:AD:DP:GQ:PL	0/1:28,20:48:99:569,0,791	20	0	1	0
chr13	52065466	52065466	C	T	exonic	NEK5	.	nonsynonymous SNV	NEK5:NM_199289:exon22:c.G2068A:p.V690I,	.	.	431	1081	10	0	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.002	B	0.0	B	0.355	N	1.000	N	0	N	-0.5	T	-1.016	T	0.117	T	0.112	0.939	8.826	-7.93	-1.502	-1.010	5.707	0.053	0.00346914844266	0.0014	0.00159744	0.0021	0.0008	0.0006	0.0001	0.0002	0.0019	0	0.0065	0.0018693	289	154602	rs145552435	0.0017	0.0017	0.0014	0.0019	0.0083	0.0016	0.0016	0.0064	0.0058	0.0003	0.0008	0.0124	0	0.0004	0.0083	0.0012	0.0020	0.0063	0.0013	0.0013	0.0012	0.0014	0.0043	0.0011	0.0011	0.0029	0.0024	0.0004	0.0022	0.0012	0.0130	0.0004	0.0003	0.0034	0.0012	0.0009	0.0043	0.541	0.06779	T	0.674	0.06225	T	0.002	0.09854	B	0.0	0.01387	B	0.355089	0.04269	N	1.461230	1	0.08975	N	-0.46	0.02758	N	-0.5	0.70480	T	-0.12	0.08809	N	0.034	0.05287	-1.0159	0.25045	T	0.117	0.41341	T	10	0.0037020147	0.00068	T	0.003469	0.07847	T	0.053	0.14996	.	.	0.137902524267	0.13322	0.05390014562318104	0.05332	0.0507363999243	0.05571	0.230242908001	0.01986	T	0.016767	0.13794	T	-0.570168	0.00221	T	-0.589171	0.13737	T	0.00110772140334273	0.00011	T	0.352865	0.07937	T	0.02334454	0.01067	0.027609421	0.00927	0.02334454	0.01066	0.027609421	0.00927	-3.863	0.21749	T	.	.	0.075	0.07177	B	.;.	.;.	0.161127	0.05518	1.979	0.59095593035385108	0.06144	0.00186	0.01083	N	AEFDBI	0.022003	0.01047	N	-1.69557033407798	0.00858	0.0371029	-1.78470499581117	0.00809	0.03612774	0.990018023766986	0.32009	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.97	-7.93	0.01023	-1.014000	0.03752	-1.537000	0.05219	-0.346000	0.05637	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1288:0.5851:0.1299:0.1562	5.707	0.17186	629	0.65079	.;.	.	.	.	.	.	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	0.02381	1668.98	37	chr13	52065466	.	C	T	1668.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=868;ExcessHet=0.0000;FS=1.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=-1.143e+00;SOR=0.557	GT:AD:DP:GQ:PL	0/1:87,70:157:99:1683,0,2132	20	0	1	0
chr13	53041916	53041916	G	A	exonic	OLFM4	.	nonsynonymous SNV	OLFM4:NM_006418:exon3:c.G364A:p.E122K,	.	.	438	1082	1	1	0	3	0.0013844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.972	D	0.805	P	0.001	D	0.996	D	2.33	M	-2.71	D	0.525	D	0.771	D	0.328	3.223	16.80	4.87	1.436	1.705	10.709	0.481	0.136019019292	7.7e-05	.	0.0002	0.0002	0.0003	0	0	0.0002	0	0.0002	0.0002393	37	154602	rs201799697	0.0003	0.0003	0.0003	0.0003	0.0007	0.0003	0.0003	0.0005	0.0004	0.0001	0.0007	0	0	0	0.0002	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0003	0.0003	0.0001	0	0.0005	0	0	0	0	0.0005	0	0.0002	0.064	0.36509	T	0.221	0.25827	T	0.972	0.57405	D	0.805	0.58399	P	0.000522	0.43581	D	0.227351	0.996404	0.43185	D	2.09	0.57893	M	-2.71	0.90566	D	-2.23	0.50012	N	0.256	0.28965	0.525	0.90892	D	0.771	0.92216	D	10	0.24985313	0.42303	T	0.136019	0.81850	D	0.481	0.77142	.	.	0.867399605611	0.86611	0.6898365882229067	0.68923	0.107911842593	0.12170	0.444726914167	0.31223	T	0.199477	0.55677	T	-0.202414	0.20457	T	-0.181359	0.56397	T	0.0620579905807972	0.07490	T	0.769523	0.39899	T	0.13165466	0.30681	0.19593404	0.43297	0.13165466	0.30681	0.19593404	0.43296	-3.443	0.15642	T	.	.	0.101	0.17360	B	.	.	2.951346	0.39270	20.9	0.99852689625203661	0.93191	0.83745	0.42843	D	AEFI	0.496187	0.53124	N	0.312736342034433	0.56801	3.845567	0.23917869765512	0.52036	3.381304	0.00153297090916803	0.08622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.71	4.87	0.62877	2.279000	0.43094	3.086000	0.36259	0.676000	0.76740	0.938000	0.32564	1.000000	0.68203	0.809000	0.38129	0.0717:0.1321:0.7962:0.0	10.709	0.45166	339	0.86048	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1120.98	34	chr13	53041916	.	G	A	1120.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.94;DP=786;ExcessHet=0.0000;FS=2.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.434e+00;SOR=1.018	GT:AD:DP:GQ:PL	0/1:50,43:93:99:1135,0,1179	20	0	1	0
chr13	66903591	66903591	G	T	exonic	PCDH9	.	nonsynonymous SNV	PCDH9:NM_001318372:exon3:c.C3051A:p.S1017R	.	.	428	1075	18	1	0	20	0.00921659	.	.	2813923	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.36	T	0.828	P	0.221	B	0.012	N	1.000	D	0	N	0.69	T	-1.065	T	0.064	T	0.474	2.859	15.53	5.5	2.581	2.855	14.898	0.089	0.00624237606417	0.0011	0.00139776	0.0020	9.705e-05	0.0011	0.0001	0.0002	0.0014	0.0034	0.0082	0.0018628	288	154602	rs149470963	0.0016	0.0017	0.0013	0.0018	0.0070	0.0015	0.0015	0.0065	0.0063	9.679e-05	0.0010	0.0028	5.137e-05	0.0001	0.0043	0.0013	0.0017	0.0070	0.0011	0.0011	0.0013	0.0010	0.0048	0.0010	0.0010	0.0033	0.0028	0.0002	0	0.0007	0.0032	0.0004	0	0.0034	0.0017	0.0009	0.0048	0.309	0.14064	T	0.196	0.27943	T	0.828	0.46021	P	0.221	0.37837	B	0.012367	0.29198	N	0.245363	0.87459	0.81001	D	0.69	0.16971	N	0.69	0.51714	T	0.01	0.06868	N	0.658	0.66787	-1.0653	0.10479	T	0.064	0.26491	T	10	0.0070990026	0.00161	T	0.006242	0.16376	T	0.089	0.25827	0.247	0.18293	0.189391138174	0.18552	0.316446336082702	0.31557	.	.	0.456158220768	0.32785	T	0.007168	0.06585	T	-0.418835	0.01740	T	-0.370259	0.36859	T	0.0155364057511116	0.00352	T	0.506149	0.16021	T	0.18247929	0.39469	0.21061423	0.45456	0.18247929	0.39469	0.21061423	0.45455	-4.149	0.26009	T	.	.	0.145	0.48766	B	.;.	.;.	3.540317	0.49714	22.8	0.99471787034464421	0.66365	0.92168	0.55096	D	AEFI	0.546115	0.56035	D	-0.0289310510141932	0.40549	2.409923	0.170533189270105	0.48239	3.042645	0.999989503311546	0.51787	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.5	5.5	0.81386	2.773000	0.47370	11.654000	0.93914	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	14.898	0.70301	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	0.02381	782.98	33	chr13	66903591	.	G	T	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.850e-01;DP=721;ExcessHet=0.0000;FS=1.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.40;ReadPosRankSum=0.961;SOR=0.957	GT:AD:DP:GQ:PL	0/1:16,29:45:99:797,0,369	20	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.995	D	0.000	D	0.987	D	3.165	M	-0.39	T	0.346	D	0.580	D	0.608	3.858	19.60	5.08	2.520	4.058	18.834	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.375	1218.29	151	chr13	69882456	.	G	A	1218.29	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-2.253e+00;DP=2755;ExcessHet=17.4423;FS=173.681;InbreedingCoeff=-0.5810;MLEAC=15;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=0.201;SOR=13.428	GT:AD:DP:GQ:PL	0/1:76,42:126:99:207,0,1154	5	0	15	1
chr13	98388393	98388393	A	G	exonic	FARP1	.	nonsynonymous SNV	FARP1:NM_001286839:exon9:c.A770G:p.K257R	.	.	427	1089	5	1	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.978	D	0.946	D	0.000	D	1.000	D	1.195	L	-2.37	D	0.245	D	0.712	D	0.8	4.596	25.0	6.17	2.371	5.026	16.822	0.641	0.0196571822119	.	0.00179712	0.0005	0	0	0	0	0	0	0.0040	0.0004981	77	154602	rs377370143	0.0003	0.0003	0.0001	0.0004	0.0040	0.0002	0.0002	0.0037	0.0035	0	0	0	0	0	0.0002	3.599e-06	0.0003	0.0040	0.0002	0.0002	8.991e-05	0.0003	0.0060	0.0001	0.0001	0.0043	0.0037	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0060	0.131	0.26629	T	0.106	0.37872	T	0.972	0.58756	D	0.93	0.68276	D	0.000001	0.84330	D	0.098149	0.999999	0.58761	D	0.995	0.25082	L	-2.37	0.88220	D	-2.5	0.54382	D	0.361	0.44761	0.245	0.86668	D	0.712	0.90123	D	10	0.01356113	0.00287	T	0.019657	0.42079	T	0.641	0.86333	0.57	0.69299	0.88651184042	0.88539	0.5971884973413503	0.59649	0.261867217747	0.28750	0.796956777573	0.81500	T	0.412578	0.76670	T	-0.0797785	0.39750	T	0.111789	0.77692	D	0.165178385141081	0.18246	T	0.89741	0.64114	D	0.18624766	0.40024	0.20436676	0.44557	0.18624766	0.40024	0.20436676	0.44556	-8.7	0.65746	D	.	.	0.066	0.02200	B	.;.;.;.	.;.;.;.	3.793542	0.54616	23.5	0.99891820965933098	0.96589	0.96991	0.72062	D	AEFBI	0.821058	0.74170	D	0.506188301213716	0.67454	5.083932	0.567186499531613	0.72600	5.835691	0.999999639288345	0.74766	0.719381	0.83141	0	0.588015	0.36545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	5.021000	0.63843	7.075000	0.57453	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.822	0.85699	909	0.22467	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	878.98	33	chr13	98388393	.	A	G	878.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.664e+00;DP=778;ExcessHet=0.0000;FS=0.802;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=-1.099e+00;SOR=0.556	GT:AD:DP:GQ:PL	0/1:52,38:90:99:893,0,1428	20	0	1	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3125	1289.7	107	chr13	102737670	.	C	G	1289.7	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-5.420e+00;DP=3587;ExcessHet=6.1002;FS=265.418;InbreedingCoeff=-0.4269;MLEAC=12;MLEAF=0.375;MQ=60.00;MQRankSum=0.00;QD=0.67;ReadPosRankSum=1.50;SOR=12.784	GT:AD:DP:GQ:PL	0/1:143,37:186:87:87,0,3463	6	0	10	5
chr13	102738219	102738219	C	G	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.G12478C:p.V4160L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.167e-05	0.0022	6.326e-05	3.979e-05	6.248e-05	4.177e-05	3.835e-05	5.038e-05	4.595e-05	0	2.807e-05	0	0	0	0	6.248e-05	3.499e-05	2.541e-05	1.334e-05	2.64e-05	1.303e-05	1.368e-05	1.486e-05	2.22e-06	8.3e-07	.	.	0	0	0	0	0	9.686e-05	0	1.486e-05	0	0	.	.	.	0.068	0.44106	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	0.19459	.	.	.	.	.	.	.	0.09865704	0.17852	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.022759760475440007	0.02227	.	.	0.381038725376	0.22403	T	.	.	.	-0.129836	0.31521	T	-0.424277	0.30586	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.349	0.56507	A	.	.	0.179806	0.05674	2.123	0.42346026630768363	0.03115	0.07449	0.13466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.921212253802681	0.26663	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0512898	0.10407	3.08	0.322	0.15131	1.882000	0.39283	-0.398000	0.09429	0.454000	0.21428	0.029000	0.20367	0.000000	0.08366	0.017000	0.10941	0.0:0.5804:0.0:0.4196	5.169	0.14429	951	0.11083	.	.	.	.	.	.	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	0.2778	1299.96	159	chr13	102738219	.	C	G	1299.96	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-5.434e+00;DP=4225;ExcessHet=6.1002;FS=289.047;InbreedingCoeff=-0.4256;MLEAC=12;MLEAF=0.333;MQ=59.99;MQRankSum=0.00;QD=0.69;ReadPosRankSum=2.11;SOR=11.733	GT:AD:DP:GQ:PL	0/1:179,51:240:99:192,0,4302	8	0	10	3
chr13	102740391	102740391	G	A	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.C10306T:p.R3436W,	.	.	424	1046	49	3	0	55	0.0256171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061901	0.0157	0.0023	0	0	0	0.0072	0.0105	0.0306	0.0032794	507	154602	rs117074021	0.0094	0.0090	0.0087	0.0101	0.0299	0.0092	0.0092	0.0289	0.0285	0.0015	0.0038	0.0013	2.8e-05	0.0058	0.0208	0.0088	0.0099	0.0299	0.0060	0.0060	0.0063	0.0057	0.0237	0.0057	0.0055	0.0202	0.0188	0.0016	0	0.0042	0.0009	0.0004	0.0044	0.0238	0.0088	0.0043	0.0237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	0.0030212104	0.00049	T	.	.	.	.	.	.	.	.	.	0.0961978917482667	0.09551	.	.	0.254358440638	0.04241	T	.	.	.	-0.526409	0.00403	T	-0.507297	0.21594	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.130	0.27880	B	.	.	1.077765	0.14608	11.17	0.57589132933474618	0.05803	0.00835	0.03355	N	AEFBI	.	.	.	.	.	.	.	.	.	0.799362739752337	0.24158	0.06567	0.01388	0	0.059962	0.00310	0	0.063197	0.01477	0	0.075334	0.01956	0	0.0503841	0.09711	3.58	1.15	0.19876	-0.032000	0.12217	-0.419000	0.09297	-0.785000	0.03297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1956:0.0:0.2288:0.5756	4.231	0.10056	951	0.11083	.	.	.	.	.	.	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	0.02381	2439.98	108	chr13	102740391	.	G	A	2439.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=2353;ExcessHet=0.0000;FS=1.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-9.100e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:89,91:180:99:2454,0,2224	20	0	1	0
chr13	102747867	102747867	T	C	exonic	CCDC168	.	nonsynonymous SNV	CCDC168:NM_001146197:exon4:c.A2830G:p.I944V,	.	.	427	1077	18	0	0	18	0.00828729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.000998403	0.0018	0	0	0	0	0.0006	0	0.0039	0.0002652	41	154602	rs184757542	0.0004	0.0003	0.0003	0.0005	0.0038	0.0003	0.0003	0.0034	0.0033	0	8.404e-05	0.0005	0	0	0.0014	0.0001	0.0006	0.0038	0.0002	0.0002	0.0001	0.0003	0.0031	0.0002	0.0001	0.0019	0.0015	0	0	6.543e-05	0.0006	0	0	0	0.0002	0.0005	0.0031	.	.	.	0.026	0.55759	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.03069	.	.	.	.	.	.	.	0.003666699	0.00067	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.010117399996744528	0.00973	.	.	0.326439380646	0.14396	T	.	.	.	-0.413216	0.01893	T	-0.367806	0.37144	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.22061	B	.	.	0.602173	0.09706	6.476	0.80720348469929903	0.13336	0.02668	0.07289	N	AEFGBI	.	.	.	.	.	.	.	.	.	0.933568732654395	0.27135	0.07523	0.01759	0	0.063388	0.01293	0	0.063197	0.01477	0	0.091162	0.02695	0	0.123341	0.25004	4.21	0.215	0.14529	0.335000	0.19546	0.039000	0.13841	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.420000	0.27228	0.1835:0.2067:0.0:0.6098	2.913	0.05393	939	0.14249	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3817.98	147	chr13	102747867	.	T	C	3817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.100e-02;DP=3320;ExcessHet=0.0000;FS=0.930;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.19;ReadPosRankSum=2.03;SOR=0.676	GT:AD:DP:GQ:PL	0/1:125,144:269:99:3832,0,3132	20	0	1	0
chr13	112547554	112547568	TGGGAAAGTCGCGCG	-	exonic	TUBGCP3	.	nonframeshift deletion	TUBGCP3:NM_001286279:exon10:c.1220_1234del:p.T412_P416del,	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,70,0,0,0,0:142:99:.:.:2584,0,2735,2800,2955,5755,2800,2955,5755,5755,2800,2955,5755,5755,5755,2800,2955,5755,5755,5755,5755	7	0	5	0
chr13	112547538	112547568	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	0	82	50	8	86	152	0.286957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,70,0,0,0,0:142:99:.:.:2584,0,2735,2800,2955,5755,2800,2955,5755,5755,2800,2955,5755,5755,5755,2800,2955,5755,5755,5755,5755	7	0	5	0
chr13	112547568	112547568	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1219_1220insCGCGCGACTTTCCCA:p.P416_M417insTRDFP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	22322.88	182	chr13	112547538	.	ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	ATGGGAAAGTCGCGCG,GTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG,A,*,ATGGGAAAGTCGCGCGTGGGAAAGTCGCGCGTGGGAAAGTCGCGCG	22322.88	.	AC=7,1,1,7,1;AF=0.167,0.024,0.024,0.167,0.024;AN=42;BaseQRankSum=0.234;DP=3259;ExcessHet=2.4516;FS=0.000;InbreedingCoeff=-0.0871;MLEAC=7,1,1,7,1;MLEAF=0.167,0.024,0.024,0.167,0.024;MQ=59.98;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.134;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:72,70,0,0,0,0:142:99:.:.:2584,0,2735,2800,2955,5755,2800,2955,5755,5755,2800,2955,5755,5755,5755,2800,2955,5755,5755,5755,5755	7	0	5	0
chr13	113140972	113140972	G	A	exonic	F10	.	nonsynonymous SNV	F10:NM_000504:exon5:c.G424A:p.E142K	Factor X deficiency, Autosomal recessive	YES	0	1510	11	1	0	13	0.00428619	.	.	27100	not_provided|F10-related_disorder|Abnormal_bleeding|Factor_X_deficiency|not_specified|Hereditary_factor_X_deficiency_disease	MedGen:C3661900|.|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|MONDO:MONDO:0002247,MeSH:D005171,MedGen:C0015519|MedGen:CN169374|MONDO:MONDO:0009212,MedGen:C0272327,OMIM:227600,Orphanet:328	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.992	D	0.566	P	0.008	N	0.000	A	2.795	M	-4.0	D	0.862	D	0.864	D	0.805	0.213	5.148	3.76	2.306	1.597	7.009	0.614	.	0.0021	0.00139776	0.0045	0.0012	0.0004	0	0.0160	0.0055	0.0066	0.0030	0.0042755	661	154602	rs61753266	0.0038	0.0038	0.0037	0.0039	0.0049	0.0037	0.0037	0.0034	0.0033	0.0005	0.0006	0.0052	0	0.0186	0.0049	0.0035	0.0034	0.0034	0.0033	0.0033	0.0031	0.0035	0.0033	0.0031	0.0030	0.0029	0.0028	0.0008	0	0.0010	0.0040	0	0.0188	0	0.0033	0.0019	0.0027	0.764	0.04148	T	0.767	0.04523	T	0.992	0.64738	D	0.565	0.49756	P	0.007962	0.31093	N	0.301259	4.36547e-09	0.08975	A	1.64	0.41913	L	-4.0	0.96339	D	-1.13	0.29525	N	0.457	0.50237	0.862	0.95181	D	0.864	0.95475	D	9	0.058690608	0.06939	T	.	.	.	0.614	0.84932	.	.	0.976480413009	0.97622	0.8535614222426939	0.85318	1.2713391689	0.82275	0.453467160463	0.32417	T	0.314666	0.85865	T	-0.047579	0.44815	T	0.159009	0.80745	D	0.0159830392420818	0.00380	T	0.716128	0.48957	T	0.53725857	0.69242	0.30863124	0.56881	0.5864146	0.71958	0.29364866	0.55393	-11.707	0.83395	D	0.47584131735732704	0.55543	0.252	0.48695	B	.;.;.	.;.;.	2.810952	0.37005	20.4	0.96024663063007809	0.28486	0.06416	0.12420	N	AEFDGBI	0.696679	0.65494	D	-0.0212999599189677	0.40893	2.436366	-0.167580244728662	0.32736	1.865	0.999968585621971	0.48965	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.542086	0.14980	0	.	.	4.68	3.76	0.42368	0.474000	0.21858	9.392000	0.80586	0.676000	0.76740	0.000000	0.06391	1.000000	0.68203	0.970000	0.54328	0.089:0.0:0.7381:0.1728	7.009	0.24030	923	0.18507	EGF-like domain;EGF-like domain;EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	947.98	33	chr13	113140972	.	G	A	947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.350e-01;DP=813;ExcessHet=0.0000;FS=5.105;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.98;ReadPosRankSum=0.600;SOR=0.540	GT:AD:DP:GQ:PL	0/1:53,42:95:99:962,0,1320	20	0	1	0
chr13	113404039	113404049	GCCCGTTCCTG	-	exonic	LOC101928841	.	frameshift deletion	LOC101928841:NM_001304433:exon2:c.4141_4151del:p.Q1381Sfs*75	.	.	1	219	1	0	5	6	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.909e-05	3.923e-05	2.142e-05	3.737e-05	2.663e-05	2.093e-05	1.847e-05	1.852e-05	1.573e-05	0	0	6.216e-05	0	0.0002	0	2.663e-05	2.094e-05	0	8.21e-05	0.0001	0.0001	4.207e-05	0.0001	4.669e-05	3.648e-05	7.043e-05	5.188e-05	0	0	0	0.0003	0	0.0002	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	855.03	37	chr13	113404038	.	AGCCCGTTCCTG	A,*	855.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.527e+00;DP=3411;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=58.29;MQRankSum=1.52;QD=0.97;ReadPosRankSum=-3.340e+00;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,83,0:421:99:0|1:113404038_AGCCCGTTCCTG_A:869,0,10924,1879,11144,13023:113404038	19	0	1	0
chr13	113404038	113404049	AGCCCGTTCCTG	0	exonic	LOC101928841	.	.	.	.	.	1	219	1	0	5	6	0.0022779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	855.03	37	chr13	113404038	.	AGCCCGTTCCTG	A,*	855.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-1.527e+00;DP=3411;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=58.29;MQRankSum=1.52;QD=0.97;ReadPosRankSum=-3.340e+00;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:338,83,0:421:99:0|1:113404038_AGCCCGTTCCTG_A:869,0,10924,1879,11144,13023:113404038	19	0	1	0
chr13	113404039	113404039	G	0	exonic	LOC101928841	.	.	.	.	.	897	593	26	2	4	34	0.0246711	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	3720.46	37	chr13	113404039	.	G	A,*	3720.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=-2.469e+00;DP=3657;ExcessHet=0.6776;FS=0.537;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=58.82;MQRankSum=-5.980e-01;QD=2.30;ReadPosRankSum=1.26;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:338,0,83:421:99:0|1:113404038_AGCCCGTTCCTG_A:869,1879,13023,0,11144,10924:113404038	17	0	2	0
chr13	113404050	113404219	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	0	exonic	LOC101928841	.	.	.	.	.	1	193	1	0	31	32	0.00258398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	593.03	37	chr13	113404050	.	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	*,A	593.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.140e-01;DP=3098;ExcessHet=0.1072;FS=1.113;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=57.79;MQRankSum=4.04;QD=0.61;ReadPosRankSum=-3.346e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:423,0,81:504:99:0|1:113404038_AGCCCGTTCCTG_A:607,1875,17019,0,15144,14926:113404038	19	0	1	0
chr13	113404051	113404219	GCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	-	exonic	LOC101928841	.	frameshift deletion	LOC101928841:NM_001304433:exon2:c.3971_4139del:p.A1324Vfs*15	.	.	1	193	1	0	31	32	0.00258398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.738e-06	5.525e-06	0	3.621e-06	1.037e-06	2.9e-07	1.1e-07	.	.	0	0	0	0	0	0	1.037e-06	2.147e-05	0	7.344e-06	7.168e-06	0	1.508e-05	1.599e-05	0	0	.	.	0	0	0	0	0	0	0	1.599e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	593.03	37	chr13	113404050	.	AGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGCTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAGCCCGTTCCTGAGCCCCTTTCTGGGCCTGTTCCCGAG	*,A	593.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=-7.140e-01;DP=3098;ExcessHet=0.1072;FS=1.113;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=57.79;MQRankSum=4.04;QD=0.61;ReadPosRankSum=-3.346e+00;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:423,0,81:504:99:0|1:113404038_AGCCCGTTCCTG_A:607,1875,17019,0,15144,14926:113404038	19	0	1	0
chr13	113404072	113404072	C	T	exonic	LOC101928841	.	nonsynonymous SNV	LOC101928841:NM_001304433:exon2:c.G4118A:p.R1373Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs1175940521	0.0002	0.0006	0.0002	0.0002	0.0024	0.0002	0.0002	0.0012	0.0009	6.948e-05	0.0024	0.0015	6.119e-05	0.0011	0.0011	0.0001	0.0003	0.0010	0.0011	0.0036	0.0012	0.0009	0.0021	0.0008	0.0007	0.0008	0.0006	0.0010	0	0.0016	0.0075	0.0021	0.0010	0	0.0004	0.0068	0	.	.	.	0.392	0.15406	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.01658	.	.	.	.	.	.	.	0.06473833	0.08630	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00652	0.05951	T	.	.	.	.	.	.	.	.	.	0.494351	0.15306	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.10014	B	.	.	0.023703	0.04450	1.173	0.56905517594466126	0.05653	0.00019	0.00214	N	AEFBI	.	.	.	.	.	.	.	.	.	0.9873297687184	0.31238	0.056701	0.00814	0	0.085267	0.02369	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0518733	0.10782	2.74	-0.191	0.12601	-2.302000	0.01217	.	.	-1.856000	0.00566	0.000000	0.06391	.	.	0.000000	0.00833	0.1706:0.1117:0.176:0.5417	1.443	0.02216	976	0.04745	.	.	.	.	.	.	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	0.09524	379.15	37	chr13	113404072	.	C	T,*	379.15	.	AC=2,2;AF=0.048,0.048;AN=42;DP=2873;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=2,2;MLEAF=0.048,0.048;MQ=42.22;QD=0.38;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:423,0,81:504:99:0|1:113404038_AGCCCGTTCCTG_A:607,1875,17019,0,15144,14926:113404038	18	1	0	0
chr13	113404072	113404072	C	0	exonic	LOC101928841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	379.15	37	chr13	113404072	.	C	T,*	379.15	.	AC=2,2;AF=0.048,0.048;AN=42;DP=2873;ExcessHet=0.0082;FS=0.000;InbreedingCoeff=0.4474;MLEAC=2,2;MLEAF=0.048,0.048;MQ=42.22;QD=0.38;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:423,0,81:504:99:0|1:113404038_AGCCCGTTCCTG_A:607,1875,17019,0,15144,14926:113404038	18	1	0	0
chr13	113404152	113404152	C	0	exonic	LOC101928841	.	.	.	.	.	74	109	6	10	27	53	0.106557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	13067.7	97	chr13	113404152	.	C	T,*	13067.7	.	AC=18,3;AF=0.500,0.083;AN=36;BaseQRankSum=1.82;DP=1904;ExcessHet=0.0725;FS=0.000;InbreedingCoeff=0.1863;MLEAC=20,3;MLEAF=0.556,0.083;MQ=55.13;MQRankSum=-6.490e-01;QD=9.73;ReadPosRankSum=-4.236e+00;SOR=0.658	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,55,78:133:99:.:.:3550,1849,1688,1815,0,2306	4	5	6	3
chr13	113735278	113735278	C	T	exonic	GRK1	.	nonsynonymous SNV	GRK1:NM_002929:exon7:c.C1607T:p.S536L,	Oguchi disease-2	YES	0	1513	4	0	5	9	0.00132013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.098	B	0.026	B	.	.	1.000	N	.	.	-0.18	T	-1.016	T	0.137	T	0.166	-0.375	2.236	2.97	0.380	0.611	9.768	0.062	0.0148089832796	.	.	0.0016	0	0	0	0	0.0006	0	0.0030	0.0001811	28	154602	rs553969577	0.0003	0.0002	0.0002	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0.0001	0.0002	0.0022	8.398e-05	0	0.0012	4.361e-05	0.0003	0.0026	0.0002	0.0002	0.0002	0.0002	0.0025	0.0002	0.0001	0.0014	0.0011	0.0001	0	0.0003	0.0012	0	0	0	5.886e-05	0.0009	0.0025	0.473	0.08408	T	0.148	0.32675	T	0.098	0.25584	B	0.026	0.20792	B	.	.	.	.	1	0.08975	N	.	.	.	-0.18	0.65747	T	-1.48	0.36189	N	0.106	0.09066	-1.0155	0.25175	T	0.137	0.45337	T	8	0.0070494115	0.00160	T	0.014809	0.35167	T	0.062	0.17934	0.4	0.42917	0.574978667741	0.57166	0.2707733369527284	0.26990	0.0753896777869	0.08455	0.478614598513	0.35866	T	0.130905	0.46009	T	-0.495858	0.00603	T	-0.489657	0.23427	T	0.00648683678961653	0.00072	T	0.333267	0.07048	T	0.03941277	0.05437	0.062399585	0.12202	0.03941277	0.05436	0.062399585	0.12201	-5.737	0.44022	T	.	.	0.087	0.11366	B	.	.	1.323011	0.17275	13.06	0.62834844439848547	0.07065	0.21496	0.21422	N	AEFDBI	0.080822	0.16347	N	-1.01515460114956	0.08288	0.3881165	-1.03685691964651	0.08982	0.4444589	0.898845896664072	0.26036	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.79	2.97	0.33479	0.751000	0.26013	1.535000	0.27187	-0.247000	0.07223	0.000000	0.06391	0.001000	0.17328	0.029000	0.12982	0.3754:0.6246:0.0:0.0	9.768	0.39737	964	0.07719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1827.98	33	chr13	113735278	.	C	T	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.935;DP=868;ExcessHet=0.0000;FS=0.582;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.01;ReadPosRankSum=1.19;SOR=0.760	GT:AD:DP:GQ:PL	0/1:90,76:166:99:1842,0,2186	20	0	1	0
chr14	19936181	19936181	A	G	exonic	OR4K1	.	nonsynonymous SNV	OR4K1:NM_001004063:exon1:c.A515G:p.N172S,	.	.	425	1070	27	0	0	27	0.0124596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.855	P	0.732	P	0.000	D	0.941	N	3.095	M	8.46	T	-1.085	T	0.001	T	0.243	3.197	16.70	4.82	2.011	1.949	12.356	0.132	.	0.0047	0.00239617	0.0070	0.0012	0.0011	0	0.0035	0.0108	0.0022	0.0045	0.0064423	996	154602	rs75008557	0.0057	0.0066	0.0056	0.0058	0.0174	0.0056	0.0056	0.0146	0.0136	0.0012	0.0020	0.0028	0	0.0039	0.0174	0.0065	0.0052	0.0040	0.0042	0.0048	0.0046	0.0038	0.0074	0.0039	0.0038	0.0069	0.0066	0.0009	0	0.0022	0.0040	0	0.0022	0.0069	0.0074	0.0043	0.0033	0.011	0.55530	D	0.007	0.69154	D	0.855	0.47121	P	0.732	0.55359	P	0.000011	0.62929	D	0.000000	0.941435	0.26780	N	3.055	0.86842	M	8.46	0.00221	T	-4.51	0.78222	D	0.409	0.44952	-1.0848	0.06444	T	0.001	0.00408	T	10	0.0052506328	0.00115	T	.	.	.	0.132	0.35948	.	.	0.474406357249	0.47070	0.07902901978355073	0.07837	0.00178415615282	0.00149	0.306223571301	0.11336	T	0.008142	0.07488	T	-0.517954	0.00452	T	-0.510667	0.21246	T	0.0786080914613422	0.09809	T	0.727127	0.34152	T	0.43628764	0.63163	0.3765644	0.62776	0.43628764	0.63163	0.3765644	0.62775	-7.854	0.60071	D	.	.	0.097	0.15698	B	.;.;.	.;.;.	3.947384	0.57808	23.9	0.99859078782074873	0.93729	0.52817	0.29222	D	AEFGI	0.141908	0.26421	N	0.424060787507789	0.62749	4.495927	0.344640799658663	0.58186	3.987643	0.915194676705139	0.26476	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.82	4.82	0.61641	1.407000	0.34266	3.704000	0.39535	0.756000	0.94297	0.001000	0.13787	0.998000	0.33993	0.998000	0.85391	1.0:0.0:0.0:0.0	12.356	0.54503	988	0.01987	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	0.02381	2256.98	103	chr14	19936181	.	A	G	2256.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.885e+00;DP=2976;ExcessHet=0.0000;FS=6.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.52;ReadPosRankSum=0.252;SOR=0.976	GT:AD:DP:GQ:PL	0/1:146,91:237:99:2271,0,4271	20	0	1	0
chr14	20556658	20556658	C	T	exonic	RNASE9	.	nonsynonymous SNV	RNASE9:NM_001001673:exon2:c.G412A:p.E138K	.	.	439	1077	6	0	0	6	0.00277778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.817	P	0.555	P	.	.	1.000	N	1.39	L	1.05	T	-1.068	T	0.077	T	0.132	2.243	13.46	-7.47	-2.177	-1.676	0.767	0.076	0.00226365638764	0.0002	0.000599042	0.0007	0	0.0007	0	0	0.0005	0.0011	0.0024	0.0006404	99	154602	rs151318768	0.0004	0.0004	0.0004	0.0005	0.0106	0.0004	0.0004	0.0085	0.0077	0.0003	0.0009	0.0001	0	0	0.0106	0.0002	0.0010	0.0024	0.0005	0.0005	0.0004	0.0005	0.0018	0.0004	0.0004	0.0012	0.0011	7.213e-05	0	0.0018	0.0003	0	0	0.0068	0.0004	0.0014	0.0017	0.157	0.24468	T	0.049	0.48336	D	0.817	0.45613	P	0.555	0.49371	P	.	.	.	.	1	0.08975	N	2.005	0.54552	M	1.05	0.39990	T	-0.77	0.21429	N	0.109	0.14054	-1.0684	0.09768	T	0.077	0.30889	T	9	0.009732485	0.00219	T	0.002264	0.04314	T	0.076	0.22200	.	.	0.171388866994	0.16791	0.35025384010115873	0.34939	0.124617667741	0.14036	0.279298424721	0.07395	T	0.004526	0.03927	T	-0.611168	0.00125	T	-0.655915	0.08545	T	0.0445337345306015	0.04517	T	0.60094	0.22456	T	0.06841872	0.14904	0.05243686	0.08640	0.06841872	0.14904	0.05243686	0.08639	-3.249	0.13545	T	.	.	0.168	0.43407	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	-0.140295	0.03408	0.618	0.95839978556147964	0.27963	0.00412	0.02045	N	AEFDBI	0.034438	0.04266	N	-1.30431364748676	0.03626	0.1622773	-1.56646288661735	0.01865	0.08500237	0.999999987347841	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.73	-7.47	0.01221	-1.442000	0.02514	-14.463000	0.00402	-0.453000	0.05137	0.000000	0.06391	0.000000	0.08366	0.026000	0.12556	0.2213:0.1522:0.219:0.4074	0.767	0.00952	946	0.12043	Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;Ribonuclease A-domain;.;.;Ribonuclease A-domain;Ribonuclease A-domain;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2247.98	79	chr14	20556658	.	C	T	2247.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.33;DP=1035;ExcessHet=0.0000;FS=1.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.14;ReadPosRankSum=-2.460e-01;SOR=0.532	GT:AD:DP:GQ:PL	0/1:79,80:159:99:2262,0,1999	20	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.008	B	0.009	B	0.000	D	0.996	D	0.97	L	2.67	T	-1.062	T	0.026	T	0.315	2.700	14.99	4.09	2.615	3.447	14.766	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3667	974.79	119	chr14	24300437	.	G	C	974.79	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-4.960e+00;DP=2462;ExcessHet=7.7275;FS=350.718;InbreedingCoeff=-0.4950;MLEAC=13;MLEAF=0.433;MQ=60.00;MQRankSum=0.00;QD=0.64;ReadPosRankSum=1.16;SOR=10.936	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:112,37:149:41:.:.:41,0,2856	4	0	11	6
chr14	24336256	24336256	-	G	exonic	RIPK3	.	frameshift insertion	RIPK3:NM_006871:exon10:c.1475dupC:p.P493Tfs*9,	.	.	420	1078	22	2	0	26	0.0119157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0032	0.00239617	0.0025	0.0009	0.0032	0	0.0009	0.0034	0.0033	0.0013	0.0008452	22	26028	rs531266348	0.0037	0.0037	0.0038	0.0036	0.0071	0.0036	0.0036	0.0054	0.0048	0.0011	0.0032	0.0041	0	0.0007	0.0071	0.0042	0.0043	0.0011	0.0031	0.0031	0.0033	0.0028	0.0062	0.0028	0.0027	0.0052	0.0048	0.0011	0.0044	0.0062	0.0026	0	0.0007	0.0102	0.0042	0.0047	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2039.94	34	chr14	24336256	.	T	TG	2039.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.829;DP=831;ExcessHet=0.0000;FS=0.652;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=2.28;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,79:133:99:0|1:24336256_T_TG:2054,0,2021:24336256	20	0	1	0
chr14	45110121	45110121	A	G	exonic	PRPF39	.	nonsynonymous SNV	PRPF39:NM_017922:exon9:c.A1204G:p.I402V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.007	B	0.008	B	0.010	N	0.567	N	-0.41	N	1.42	T	-1.040	T	0.033	T	0.156	0.019	4.110	5.53	2.107	6.191	9.813	0.110	0.00308680563453	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1215793720	2.053e-06	2.052e-06	1.362e-06	2.751e-06	3.479e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.479e-05	6.569e-06	6.562e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.94	0.02196	T	1.0	0.01155	T	0.001	0.07471	B	0.008	0.13708	B	0.010303	0.29978	N	0.399964	0.566811	0.31211	N	0	0.06538	N	1.42	0.33189	T	0.31	0.04022	N	0.171	0.18239	-1.0395	0.17465	T	0.033	0.13986	T	10	0.08366269	0.13942	T	0.003087	0.06696	T	0.110	0.31079	0.634	0.77032	0.382607109125	0.37878	0.1606170558172802	0.15982	0.385509509165	0.39847	0.334250211716	0.15574	T	0.002972	0.02370	T	-0.320732	0.06838	T	-0.516958	0.20602	T	0.0974087977643772	0.12070	T	0.823318	0.48387	T	0.026965689	0.01824	0.041668896	0.04789	0.026965689	0.01823	0.041668896	0.04788	-4.117	0.25540	T	.	.	0.053	0.00264	B	.	.	2.420860	0.31130	18.65	0.8786928459168879	0.17542	0.96817	0.71098	D	AEFBI	0.606916	0.59708	D	-0.217442741401954	0.32419	1.828028	0.0483298925693851	0.41991	2.532162	0.99798301418544	0.36275	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	6.180000	0.71914	11.216000	0.89583	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9223:0.0:0.0777:0.0	9.813	0.40001	828	0.39726	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	927.98	35	chr14	45110121	.	A	G	927.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.640e-01;DP=780;ExcessHet=0.0000;FS=2.866;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.273;SOR=0.780	GT:AD:DP:GQ:PL	0/1:46,40:86:99:942,0,1154	20	0	1	0
chr14	52042883	52042883	C	T	exonic	NID2	.	nonsynonymous SNV	NID2:NM_007361:exon6:c.G1478A:p.R493K,	.	.	424	1077	20	1	0	22	0.0101103	.	.	702896	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.323	B	0.079	B	0.398	N	1.000	N	1.175	L	-1.53	D	-0.774	T	0.294	T	0.172	-0.749	0.820	1.77	0.108	1.727	6.318	0.109	0.0304468616573	0.0063	0.00259585	0.0055	0.0011	0.0013	0	0.0024	0.0086	0.0033	0.0030	0.0057761	893	154602	rs111989036	0.0076	0.0076	0.0077	0.0076	0.0088	0.0075	0.0074	0.0086	0.0086	0.0010	0.0017	0.0135	0	0.0031	0.0073	0.0088	0.0068	0.0032	0.0049	0.0049	0.0053	0.0045	0.0083	0.0046	0.0045	0.0078	0.0076	0.0012	0	0.0014	0.0130	0	0.0041	0.0034	0.0083	0.0038	0.0029	0.713	0.04008	T	0.41	0.14544	T	0.036	0.20732	B	0.028	0.21332	B	0.398379	0.13159	N	0.766255	1	0.08975	N	0.665	0.16292	N	-2.2	0.86888	D	-0.55	0.16799	N	0.156	0.16168	-0.7743	0.56620	T	0.294	0.66517	T	10	0.005351484	0.00117	T	0.030447	0.52756	D	0.109	0.30843	.	.	0.543561272632	0.54008	0.16438596761333624	0.16358	0.0968026728174	0.10928	0.219821214676	0.01300	T	0.067525	0.33224	T	-0.384962	0.02898	T	-0.319209	0.42661	T	0.000374597644603621	0.00003	T	0.364964	0.08484	T	0.08498389	0.19694	0.062388107	0.12198	0.08498389	0.19694	0.062388107	0.12198	-5.213	0.39074	T	.	.	0.093	0.14015	B	.	.	1.516089	0.19470	14.28	0.4565946494951153	0.03600	0.01789	0.05595	N	AEFDGBIJ	0.097982	0.19752	N	-0.876788700375661	0.11397	0.5497405	-0.858368721566801	0.13086	0.6769452	0.999961118433219	0.48965	0.693126	0.56070	0	0.59043	0.45803	0	0.659464	0.59346	0	0.655142	0.61905	0	.	.	5.77	1.77	0.23848	1.354000	0.33660	1.330000	0.25662	0.594000	0.32500	0.001000	0.13787	0.001000	0.17328	0.719000	0.34739	0.1283:0.6585:0.0:0.2132	6.318	0.20409	914	0.21048	EGF-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	0.02381	989.98	40	chr14	52042883	.	C	T	989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.090e-01;DP=869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.61;ReadPosRankSum=1.42;SOR=0.660	GT:AD:DP:GQ:PL	0/1:57,46:103:99:1004,0,1417	20	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.0	B	0.001	B	0.000	D	1.000	D	0.805	L	-3.44	D	0.114	D	0.666	D	0.186	0.389	6.113	5.8	2.219	4.529	9.930	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	2608.12	67	chr14	58213644	.	T	C	2608.12	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-2.303e+00;DP=1500;ExcessHet=54.0936;FS=246.126;InbreedingCoeff=-0.9696;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=1.77;ReadPosRankSum=0.737;SOR=12.205	GT:AD:DP:GQ:PL	0/1:42,13:55:38:38,0,813	0	0	21	0
chr14	60116008	60116008	G	A	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon5:c.G824A:p.S275N	.	.	439	1069	14	0	0	14	0.00650558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.001	B	0.001	B	.	.	1.000	N	-0.02	N	1.92	T	-0.948	T	0.019	T	0.071	-1.341	0.030	-5.49	-1.202	-0.223	12.470	0.012	.	0.0036	0.00359425	0.0050	0.0011	0.0024	0	0.0007	0.0041	0.0025	0.0178	0.0042949	664	154602	rs137987112	0.0046	0.0047	0.0043	0.0050	0.0150	0.0045	0.0045	0.0143	0.0141	0.0009	0.0020	0.0034	0	0.0007	0.0059	0.0044	0.0043	0.0150	0.0031	0.0031	0.0029	0.0032	0.0157	0.0028	0.0028	0.0129	0.0119	0.0009	0	0.0029	0.0029	0	0.0011	0.0068	0.0041	0.0024	0.0157	0.963	0.02847	T	0.699	0.05747	T	0.0	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.025	0.05070	N	1.89	0.23688	T	0.36	0.05217	N	0.176	0.19190	-0.9481	0.41296	T	0.019	0.07753	T	9	0.0031654537	0.00053	T	.	.	.	0.012	0.01476	.	.	0.0551355673512	0.04727	0.23817201030084395	0.23731	0.0121123823965	0.01151	0.349533617496	0.17854	T	0.002009	0.02778	T	-0.689319	0.00042	T	-0.749962	0.03487	T	0.00166663557928363	0.00017	T	0.553945	0.19167	T	0.030974612	0.02854	0.055417635	0.09718	0.030974612	0.02853	0.055417635	0.09718	-3.771	0.20372	T	.	.	0.073	0.05360	B	.;.;.	.;.;.	-0.497068	0.01876	0.153	0.29833776849009291	0.01602	0.02840	0.07590	N	AEFBI	0.064173	0.12445	N	-1.52845522687434	0.01665	0.0728274	-1.54804971732925	0.01989	0.0908814	0.999993698266177	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.76	-5.49	0.02381	-0.226000	0.09144	-0.998000	0.06656	-0.106000	0.15538	0.000000	0.06391	0.000000	0.08366	0.172000	0.21044	0.633:0.0866:0.2804:0.0	12.470	0.55118	603	0.67726	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	328.98	34	chr14	60116008	.	G	A	328.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=721;ExcessHet=0.0000;FS=1.427;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.65;ReadPosRankSum=0.493;SOR=1.112	GT:AD:DP:GQ:PL	0/1:29,14:43:99:343,0,817	20	0	1	0
chr14	64070795	64070795	C	G	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon52:c.C10582G:p.L3528V	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	0	1516	6	0	0	6	0.00197498	.	.	338268	Emery-Dreifuss_muscular_dystrophy_5,_autosomal_dominant|not_provided	MONDO:MONDO:0013072,MedGen:C2751805,OMIM:612999,Orphanet:261|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.05	D	0.998	D	0.916	D	0.015	N	0.670	D	0.975	L	3.49	T	-0.321	T	0.298	T	0.32	0.435	6.363	3.39	1.292	0.638	9.241	0.079	0.102848735282	8.3e-05	0.000998403	0.0010	0	0	0.0002	0	7.493e-05	0	0.0071	0.0008344	129	154602	rs374649578	0.0004	0.0004	0.0002	0.0007	0.0065	0.0004	0.0004	0.0060	0.0059	0	0	0	2.519e-05	0	0.0016	3.237e-05	0.0003	0.0065	0.0002	0.0002	0.0001	0.0003	0.0033	0.0001	0.0001	0.0021	0.0017	2.406e-05	0	0	0	0	0	0	0.0001	0.0009	0.0033	0.003	0.72154	D	0.045	0.92824	D	0.998	0.73220	D	0.916	0.65201	D	0.015460	0.28243	N	0.167242	0.669785	0.33131	D	2.71	0.79292	M	0.09	0.69287	T	-2.41	0.52938	N	0.412	0.51851	-0.3213	0.74385	T	0.298	0.66896	T	10	0.006443143	0.00146	T	0.102849	0.77655	D	0.079	0.23065	.	.	0.602320007227	0.59914	0.23320068063062413	0.23235	0.325746393183	0.34721	0.380660325289	0.22349	T	0.032	0.51760	T	-0.354174	0.04470	T	-0.277937	0.47015	T	0.0520117384178765	0.05849	T	0.90141	0.65732	D	0.1355319	0.31452	0.19977151	0.43875	0.13400768	0.31150	0.21683747	0.46324	-4.436	0.30042	T	.	.	0.206	0.43241	B	.;.;.;.;.	.;.;.;.;.	1.802338	0.22907	15.81	0.9726075194931455	0.33089	0.27140	0.23193	N	AEFGBI	0.081914	0.16580	N	-0.0820432313283548	0.38180	2.232241	-0.210684408082149	0.31150	1.760288	0.702175986192822	0.22714	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.47	3.39	0.37919	0.662000	0.24721	1.078000	0.23865	0.599000	0.40250	0.280000	0.25141	0.557000	0.25500	0.158000	0.20581	0.0:0.74:0.0:0.26	9.241	0.36656	614	0.66605	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	776.98	33	chr14	64070795	.	C	G	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.299;DP=763;ExcessHet=0.0000;FS=0.825;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.25;ReadPosRankSum=-3.330e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:50,34:84:99:791,0,1255	20	0	1	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.021	B	0.012	B	0.041	N	1.000	D	1.7	L	1.39	T	-1.084	T	0.073	T	0.364	1.006	9.108	3.35	0.508	0.640	7.200	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.35	4406.61	113	chr14	64158707	.	T	C	4406.61	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-3.043e+00;DP=2681;ExcessHet=14.4320;FS=209.673;InbreedingCoeff=-0.5275;MLEAC=14;MLEAF=0.350;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.08;SOR=12.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:77,41:118:99:.:.:309,0,1594	6	0	14	1
chr14	69573090	69573092	GCG	-	exonic	CCDC177	.	nonframeshift deletion	CCDC177:NM_001271507:exon2:c.531_533del:p.A180del,	.	.	481	42	22	831	146	1830	0.952489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9524	15285.35	10	chr14	69573086	.	CGCGGCG	C,CGCG	15285.35	.	AC=40,2;AF=0.952,0.048;AN=42;DP=467;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=40,2;MLEAF=0.952,0.048;MQ=60.00;QD=30.04;SOR=1.246	GT:AD:DP:GQ:PL	1/2:0,6,8:14:99:579,329,318,252,0,228	0	19	0	0
chr14	70962282	70962282	T	C	exonic	PCNX1	.	nonsynonymous SNV	PCNX1:NM_001308160:exon3:c.T419C:p.V140A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.984	D	0.956	D	0.000	D	1.000	D	1.59	L	1.02	T	-0.913	T	0.185	T	0.754	3.459	17.72	5.29	2.137	6.335	15.515	0.104	0.025782610251	.	.	8.239e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs759109869	4.105e-06	4.104e-06	4.085e-06	4.126e-06	0.0003	1.48e-06	9.7e-07	6.098e-05	2.523e-05	0	0	0	0	0	0.0003	8.996e-07	3.313e-05	1.159e-05	6.572e-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	0.04	0.42199	D	0.011	0.64786	D	0.984	0.60733	D	0.956	0.69739	D	0.000000	0.84330	D	0.000000	0.999952	0.52396	D	1.93	0.51437	L	1.02	0.40749	T	-2.25	0.50830	N	0.737	0.74553	-0.9133	0.46441	T	0.185	0.53436	T	10	0.4951467	0.61222	T	0.025783	0.48731	D	0.104	0.29647	0.257	0.19845	0.043077524339	0.03247	0.39557960259714	0.39472	0.569230917406	0.53109	0.730319619179	0.71552	T	0.126431	0.45281	T	0.00832018	0.52795	T	-0.128971	0.61058	T	0.853155076503754	0.50440	D	0.919408	0.73215	D	0.2606926	0.49126	0.2352703	0.48766	0.2606926	0.49126	0.2352703	0.48765	-3.078	0.11045	T	.	.	0.356	0.70828	A	.;.	.;.	4.579112	0.72322	25.8	0.99465519671233305	0.66049	0.94730	0.62132	D	AEFBI	0.615509	0.60242	D	0.466940970310215	0.65172	4.789022	0.498437025024803	0.67887	5.144473	0.99999638477482	0.74766	0.736574	0.97449	0	0.653731	0.59785	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.29	5.29	0.74430	6.153000	0.71612	7.798000	0.69068	0.607000	0.46521	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.515	0.75552	768	0.49510	.;.	.	.	.	.	.	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	0.02381	1377.98	36	chr14	70962282	.	T	C	1377.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=790;ExcessHet=0.0000;FS=2.563;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.51;ReadPosRankSum=-1.143e+00;SOR=0.544	GT:AD:DP:GQ:PL	0/1:45,57:102:99:1392,0,883	20	0	1	0
chr14	74670102	74670102	C	T	exonic	AREL1	.	nonsynonymous SNV	AREL1:NM_001039479:exon14:c.G1633A:p.A545T,	.	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.001	B	0.003	B	0.019	N	0.999	N	0.855	L	0.4	T	-1.060	T	0.036	T	0.255	1.521	11.04	-3.13	-0.558	0.081	4.066	0.029	.	0.0046	0.00698882	0.0018	0.0164	0.0014	0	0	0.0004	0.0023	0.0008	0.0017658	273	154602	rs77043880	0.0007	0.0007	0.0008	0.0007	0.0169	0.0007	0.0007	0.0157	0.0153	0.0169	0.0013	0.0021	2.521e-05	0	0.0056	0.0002	0.0018	0.0009	0.0045	0.0045	0.0047	0.0043	0.0148	0.0043	0.0041	0.0138	0.0134	0.0148	0	0.0022	0.0040	0	0	0	0.0002	0.0043	0.0012	0.508	0.08188	T	0.526	0.10245	T	0.001	0.07471	B	0.003	0.08700	B	0.019088	0.27335	N	0.458944	0.999074	0.21650	N	1.49	0.37298	L	0.4	0.57261	T	-0.61	0.18042	N	0.037	0.01135	-1.0596	0.11855	T	0.036	0.15378	T	10	0.0026145577	0.00040	T	.	.	.	0.029	0.06676	.	.	0.0806252709748	0.07271	0.260344381072286	0.25948	0.333611242029	0.35398	0.302442848682	0.10765	T	0.018722	0.15043	T	-0.482266	0.00717	T	-0.451238	0.27561	T	0.001915548709041	0.00020	T	0.755524	0.38496	T	0.12125713	0.28518	0.084641665	0.19487	0.12125713	0.28518	0.084641665	0.19486	-6.549	0.50663	T	.	.	0.064	0.02091	B	.;.	.;.	1.282514	0.16827	12.79	0.92494229896230895	0.21928	0.08272	0.14223	N	AEFGBI	0.048033	0.08154	N	-1.24935672695812	0.04308	0.1941853	-1.2183749551346	0.05615	0.2680238	0.99996934475226	0.48965	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	6.02	-3.13	0.04944	0.104000	0.15148	-0.058000	0.12460	-0.800000	0.03169	0.014000	0.18986	0.000000	0.08366	0.917000	0.45243	0.08:0.1926:0.3645:0.3629	4.066	0.09339	447	0.79583	HECT domain|HECT domain|HECT domain|HECT domain;HECT domain|HECT domain|HECT domain|HECT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1227.98	40	chr14	74670102	.	C	T	1227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.186e+00;DP=790;ExcessHet=0.0000;FS=2.961;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.45;ReadPosRankSum=1.31;SOR=0.434	GT:AD:DP:GQ:PL	0/1:34,51:85:99:1242,0,785	20	0	1	0
chr14	74673098	74673098	G	A	exonic	AREL1	.	nonsynonymous SNV	AREL1:NM_001039479:exon10:c.C1279T:p.R427C,	.	.	422	1082	18	0	0	18	0.00824931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.893	P	0.000	N	1.000	D	1.59	L	0.68	T	-0.657	T	0.229	T	0.64	4.549	24.6	5.29	1.632	7.657	15.627	0.371	0.0523300725133	0.0007	0.000998403	0.0015	0.0001	0.0004	0	0.0002	0.0009	0.0022	0.0067	0.0014036	217	154602	rs202071581	0.0013	0.0013	0.0011	0.0015	0.0073	0.0013	0.0012	0.0068	0.0066	0.0005	0.0006	0.0002	0.0003	0.0001	0.0040	0.0010	0.0011	0.0073	0.0008	0.0008	0.0008	0.0008	0.0064	0.0007	0.0007	0.0047	0.0040	0.0003	0.0011	0.0005	0.0003	0.0002	0	0	0.0010	0.0005	0.0064	0.006	0.61437	D	0.018	0.59732	D	1.0	0.90584	D	0.893	0.63340	P	0.000000	0.84330	N	0.044578	1	0.81001	D	1.59	0.40313	L	0.68	0.51952	T	-3.98	0.73788	D	0.573	0.59563	-0.6571	0.62404	T	0.229	0.59484	T	10	0.011578888	0.00252	T	0.05233	0.65029	D	0.371	0.69016	.	.	0.434934176536	0.43114	0.8021690508504536	0.80170	1.10997116667	0.78028	0.862391114235	0.91464	D	0.25013	0.62019	T	-0.274268	0.11285	T	-0.163436	0.58041	T	0.0702039408352876	0.08680	T	0.928707	0.73770	D	0.31272128	0.54020	0.20806251	0.45092	0.31272128	0.54020	0.20806251	0.45091	-5.643	0.43183	T	.	.	0.184	0.53936	B	.;.	.;.	4.532196	0.71161	25.6	0.99896860065188642	0.96971	0.98810	0.87149	D	AEFGBI	0.928694	0.91330	D	0.248108139380359	0.53545	3.522949	0.350449988346633	0.58533	4.024555	0.999999999951632	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.735409	0.98432	0	.	.	6.17	5.29	0.74430	7.777000	0.84262	10.028000	0.83159	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.796000	0.37562	0.0653:0.0:0.9346:0.0	15.627	0.76621	512	0.75040	.;.	.	.	.	.	.	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	0.02381	1836.98	36	chr14	74673098	.	G	A	1836.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.13;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.57;ReadPosRankSum=0.590;SOR=0.784	GT:AD:DP:GQ:PL	0/1:57,61:118:99:1851,0,1566	20	0	1	0
chr14	74778559	74778559	C	A	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon2:c.C986A:p.P329Q,	.	.	431	1088	3	0	0	3	0.00137678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.027	B	0.017	B	0.006	N	0.649	N	-0.205	N	1.96	T	-1.055	T	0.009	T	0.184	1.158	9.715	4.53	2.567	2.106	11.233	0.016	.	0.0042	0.00698882	0.0029	0.0230	0.0031	0	0	0.0007	0.0036	0.0019	0.0017529	271	154602	rs77448538	0.0008	0.0008	0.0008	0.0008	0.0179	0.0008	0.0008	0.0167	0.0163	0.0179	0.0014	0.0022	5.069e-05	0	0.0061	0.0002	0.0020	0.0013	0.0047	0.0047	0.0049	0.0045	0.0151	0.0044	0.0043	0.0142	0.0138	0.0151	0	0.0023	0.0040	0	0	0	0.0003	0.0043	0.0017	0.292	0.14894	T	0.404	0.14818	T	.	.	.	.	.	.	0.005740	0.32555	N	0.220858	0.64941	0.32950	D	0.895	0.22405	L	1.96	0.22270	T	-0.75	0.36189	N	0.205	0.22742	-1.0550	0.13040	T	0.009	0.03271	T	10	0.0023353398	0.00034	T	.	.	.	0.016	0.02506	.	.	0.043077524339	0.03247	0.07371866101587875	0.07308	0.103469901482	0.11702	0.348592877388	0.17715	T	0.003348	0.11328	T	-0.549354	0.00294	T	-0.547605	0.17555	T	0.00589988807870542	0.00065	T	0.667233	0.27634	T	0.34153277	0.56401	0.16663404	0.38486	0.34153277	0.56401	0.16663404	0.38485	-4.746	0.33956	T	.	.	0.103	0.18331	B	.;.	.;.	2.094197	0.26643	17.19	0.83035251510643904	0.14507	0.70115	0.34458	D	AEFDBHCI	0.069202	0.13687	N	-0.28429631854584	0.29754	1.652876	-0.0769875725394079	0.36344	2.11386	0.997926675061541	0.36199	0.719381	0.83141	0	0.723133	0.82719	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.48	4.53	0.55009	2.139000	0.41773	2.600000	0.33516	0.549000	0.26987	0.991000	0.37257	0.983000	0.30585	0.937000	0.47636	0.2866:0.7134:0.0:0.0	11.233	0.48153	590	0.68897	.;.	.	.	.	.	.	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	0.02381	1104.98	34	chr14	74778559	.	C	A	1104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.010;DP=785;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-1.240e+00;SOR=0.716	GT:AD:DP:GQ:PL	0/1:38,43:81:99:1119,0,991	20	0	1	0
chr14	74781778	74781778	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1735G:p.P579A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.997	D	0.921	D	.	.	1.000	D	1.59	L	.	.	-0.638	T	0.351	T	0.312	3.040	16.14	5.9	2.793	6.121	19.866	0.176	0.0198110276327	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.751e-06	0.0002	4.108e-06	1.382e-06	3.62e-06	6.4e-07	4.3e-07	8.5e-07	5.7e-07	0	0	0	0	0	0	3.62e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.19710	T	0.078	0.50514	T	.	.	.	.	.	.	.	.	.	.	0.999918	0.81001	D	.	.	.	.	.	.	-1.59	0.38345	N	0.4	0.45237	-0.6378	0.63239	T	0.351	0.71462	T	8	0.25861296	0.43289	T	0.019811	0.42265	T	0.176	0.44373	0.315	0.29096	0.110392049598	0.10638	0.3113116681727129	0.31044	0.108738436801	0.12267	0.763889551163	0.76510	T	0.017928	0.14543	T	-0.0710243	0.41164	T	-0.339798	0.40367	T	0.417973161023554	0.29615	T	0.806719	0.45571	T	0.11252477	0.26582	0.244229	0.49884	0.11252477	0.26582	0.244229	0.49883	-8.122	0.61899	D	.	.	0.158	0.34840	B	.;.	.;.	2.502066	0.32303	19.00	0.9838911524607169	0.40936	0.99479	0.96535	D	AEFGBI	0.614150	0.60158	D	0.618526765893469	0.74345	6.117236	0.650981732843165	0.78684	6.925852	0.999999999999985	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	1.669000	0.37108	5.846000	0.50293	0.549000	0.26987	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	19.866	0.96800	598	0.68232	.;.	.	.	.	.	.	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	0.1667	98.44	106	chr14	74781778	.	C	G	98.44	.	AC=2;AF=0.167;AN=12;BaseQRankSum=-3.319e+00;DP=2287;ExcessHet=0.1072;FS=281.393;InbreedingCoeff=-0.2810;MLEAC=3;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=0.871;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,23:128:99:0|1:74781778_C_G:101,0,3356:74781778	4	0	2	15
chr14	74781779	74781779	C	G	exonic	YLPM1	.	nonsynonymous SNV	YLPM1:NM_019589:exon4:c.C1736G:p.P579R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.984	D	.	.	1.000	D	1.59	L	.	.	-0.578	T	0.312	T	0.376	2.451	14.16	5.9	2.793	3.408	14.092	0.121	0.026397561712	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.011	0.72224	D	.	.	.	.	.	.	.	.	.	.	0.999775	0.81001	D	.	.	.	.	.	.	-1.73	0.48523	N	0.652	0.66272	-0.5780	0.65696	T	0.312	0.68229	T	8	0.4610075	0.59284	T	0.026398	0.49309	D	0.121	0.33580	0.39	0.41279	0.123314135267	0.11883	0.4474048113735965	0.44658	0.119333337301	0.13438	0.809758782387	0.83456	D	0.018243	0.14740	T	-0.00786362	0.50564	T	-0.249072	0.49907	T	0.577931891752913	0.35539	D	0.787421	0.42665	T	0.25242773	0.48258	0.32784796	0.58679	0.25242773	0.48258	0.32784796	0.58678	-11.157	0.80512	D	.	.	0.528	0.65841	A	.;.	.;.	2.926139	0.38864	20.8	0.98555870954543157	0.42909	0.98429	0.82685	D	AEFGBI	0.446319	0.50243	N	0.636817590709346	0.75517	6.320194	0.648738560687963	0.78515	6.892166	0.99999999807232	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	3.660000	0.54234	5.848000	0.50311	0.549000	0.26987	0.994000	0.38300	1.000000	0.68203	0.954000	0.50415	0.0:0.9277:0.0:0.0723	14.092	0.64522	598	0.68232	.;.	.	.	.	.	.	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	0.04167	91.22	74	chr14	74781779	.	C	G	91.22	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-3.211e+00;DP=2040;ExcessHet=0.0000;FS=184.772;InbreedingCoeff=-0.1530;MLEAC=2;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=0.71;ReadPosRankSum=0.869;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,23:128:99:0|1:74781778_C_G:101,0,3356:74781778	11	0	1	9
chr14	74881964	74881964	G	A	exonic	DLST	.	nonsynonymous SNV	DLST:NM_001244883:exon1:c.G11A:p.R4Q	.	.	.	.	.	.	.	.	.	.	.	2810557	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.96	D	0.151	B	0.000	D	1.000	D	0.695	N	2.41	T	-1.051	T	0.022	T	0.463	2.216	13.37	3.52	2.298	2.903	11.875	0.109	0.170103746395	.	.	0.0001	0	0.0004	0	0	6.765e-05	0.0035	0.0001	3.88e-05	6	154602	rs774943636	0.0001	0.0001	0.0001	0.0001	0.0005	9.575e-05	9.022e-05	0.0001	0.0001	0	0	3.937e-05	0	0	0.0005	0.0001	6.805e-05	6.094e-05	0.0001	0.0001	0.0001	9.414e-05	0.0002	6.511e-05	5.323e-05	7.91e-05	5.995e-05	2.412e-05	0	0.0001	0.0003	0	0	0	0.0001	0.0005	0.0002	0.015	0.52492	D	0.324	0.52060	T	0.645	0.40526	P	0.113	0.31689	B	0.000042	0.53742	D	0.130582	0.727868	0.81001	D	0.49	0.13296	N	2.41	0.15492	T	-0.05	0.07736	N	0.385	0.42639	-1.0509	0.14147	T	0.022	0.09513	T	10	0.14427224	0.27380	T	0.170104	0.84775	D	0.109	0.30843	0.229	0.15556	0.325139982731	0.32122	0.612237910704922	0.61155	0.233500073682	0.25879	0.735725998878	0.72343	T	0.199131	0.55632	T	-0.120812	0.32989	T	-0.411314	0.32073	T	0.225286912269736	0.21725	T	0.943406	0.78638	D	0.15123951	0.34392	0.22316433	0.47186	0.15123951	0.34391	0.22316433	0.47185	-5.767	0.44286	T	.	.	0.116	0.45847	B	.;.	.;.	3.829937	0.55357	23.6	0.99535088311035613	0.70150	0.94231	0.60513	D	ALL	0.105284	0.21042	N	-0.10705211047509	0.37084	2.152576	-0.0464839909164363	0.37642	2.206801	0.99999999999994	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.46	3.52	0.39415	2.596000	0.45870	6.339000	0.55473	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.044000	0.14658	0.0:0.1753:0.8247:0.0	11.875	0.51822	663	0.61610	.;.	.	.	.	.	.	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	0.02381	919.98	34	chr14	74881964	.	G	A	919.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.351e+00;DP=763;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=-4.620e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/1:23,41:64:99:934,0,480	20	0	1	0
chr14	77027445	77027445	C	0	exonic	IRF2BPL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6562	12393.38	37	chr14	77027445	.	C	T,*	12393.38	.	AC=20,1;AF=0.625,0.031;AN=32;BaseQRankSum=0.947;DP=915;ExcessHet=1.6165;FS=2.187;InbreedingCoeff=-0.1019;MLEAC=23,1;MLEAF=0.719,0.031;MQ=59.99;MQRankSum=0.00;QD=28.23;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,15:40:99:0|1:77027444_GC_G:555,630,1657,0,1027,981:77027444	1	6	8	5
chr14	77027447	77027454	GCTGTTGC	-	exonic	IRF2BPL	.	frameshift deletion	IRF2BPL:NM_024496:exon1:c.339_346del:p.Q114Afs*16,	.	.	601	913	4	1	3	9	0.00327511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0148	0	0	0	0	0.0033	0	0.0213	3.84e-05	1	26028	rs761663166	0.0016	0.0057	0.0012	0.0019	0.0102	0.0015	0.0015	0.0095	0.0093	0.0006	0.0013	0.0005	0.0004	0.0014	0.0015	0.0010	0.0017	0.0102	0.0010	0.0009	0.0009	0.0010	0.0087	0.0008	0.0008	0.0063	0.0055	0.0004	0	0.0006	0	0	0.0008	0.0093	0.0010	0.0018	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	540.94	51	chr14	77027446	.	TGCTGTTGC	T	540.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=875;ExcessHet=0.0000;FS=8.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=2.69;SOR=1.673	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,15:40:99:0|1:77027444_GC_G:555,0,981:77027444	20	0	1	0
chr14	77027448	77027451	CTGT	0	exonic	IRF2BPL	.	.	.	.	.	513	390	392	223	4	842	0.517923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	12349.48	37	chr14	77027448	.	CTGT	C,*	12349.48	.	AC=20,1;AF=0.476,0.024;AN=42;BaseQRankSum=1.24;DP=882;ExcessHet=0.5132;FS=2.187;InbreedingCoeff=0.1429;MLEAC=20,1;MLEAF=0.476,0.024;MQ=59.99;MQRankSum=0.00;QD=28.00;ReadPosRankSum=-4.090e-01;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:25,0,15:40:99:0|1:77027444_GC_G:555,630,1657,0,1027,981:77027444	6	6	8	0
chr14	77407535	77407535	C	T	exonic	NOXRED1	.	nonsynonymous SNV	NOXRED1:NM_001113475:exon3:c.G460A:p.V154I,	.	.	435	1048	39	0	0	39	0.018267	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.005	B	0.001	B	0.633	N	1.000	N	0.945	L	0.99	T	-1.055	T	0.034	T	0.126	1.001	9.090	-11.5	-2.365	-1.600	0.813	0.038	.	0.0083	0.00419329	0.0066	0.0019	0.0041	0	0.0026	0.0097	0.0055	0.0043	0.0069663	1077	154602	rs141189280	0.0087	0.0088	0.0087	0.0088	0.0333	0.0086	0.0086	0.0294	0.0280	0.0016	0.0061	0.0110	0.0001	0.0020	0.0333	0.0098	0.0086	0.0053	0.0067	0.0067	0.0072	0.0061	0.0103	0.0063	0.0062	0.0096	0.0094	0.0018	0.0132	0.0076	0.0121	0.0002	0.0018	0.0476	0.0103	0.0099	0.0041	0.602	0.08787	T	0.248	0.23845	T	0.001	0.07471	B	0.001	0.04355	B	0.633464	0.05826	N	1.202330	1	0.08975	N	0.075	0.08292	N	0.99	0.41750	T	0.01	0.07736	N	0.111	0.09772	-1.0550	0.13040	T	0.034	0.14639	T	10	0.0045294464	0.00094	T	.	.	.	0.038	0.09825	.	.	0.21737058555	0.21362	0.2516836260169324	0.25082	0.118053165635	0.13290	0.226650893688	0.01729	T	0.020134	0.15906	T	-0.672006	0.00053	T	-0.727679	0.04433	T	0.00575182871688739	0.00063	T	0.424358	0.11346	T	0.030284833	0.02666	0.027110701	0.00840	0.030284833	0.02666	0.027110701	0.00840	-3.256	0.13176	T	.	.	0.081	0.08465	B	.;.	.;.	-1.197009	0.00533	0.012	0.77288193910196079	0.11814	0.03348	0.08433	N	AEFBHCI	0.028639	0.02560	N	-1.78900436564519	0.00572	0.02466229	-1.91754234181815	0.00452	0.01999623	0.999999999943413	0.74766	0.516011	0.20929	0	0.624146	0.53433	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.77	-11.5	0.00057	-1.268000	0.02944	-3.258000	0.02929	-0.854000	0.02687	0.000000	0.06391	0.000000	0.08366	0.769000	0.36481	0.26:0.2926:0.1298:0.3176	0.813	0.01027	923	0.18507	Pyrroline-5-carboxylate reductase, catalytic, N-terminal;Pyrroline-5-carboxylate reductase, catalytic, 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	0.07143	6248.68	141	chr14	77407535	.	C	T	6248.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=1.15;DP=1112;ExcessHet=0.3300;FS=0.527;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.411;SOR=0.748	GT:AD:DP:GQ:PL	0/1:73,88:161:99:2190,0,1642	18	0	3	0
chr14	78297852	78297852	G	A	exonic	NRXN3	.	nonsynonymous SNV	NRXN3:NM_001330195:exon4:c.G749A:p.S250N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	-0.457	T	0.373	T	0.265	1.329	10.36	6.02	2.865	5.815	17.697	0.077	.	.	.	7.053e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs746873335	3.613e-06	4.788e-06	1.426e-06	5.857e-06	5.049e-05	1.06e-06	7.7e-07	1.679e-05	9.94e-06	0	0	0	0	0	0	0	1.724e-05	5.049e-05	6.574e-06	6.568e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.693	0.05863	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436	0.47487	-0.4570	0.70168	T	0.373	0.73190	T	4	0.2170158	0.38302	T	.	.	.	.	.	.	.	.	.	0.58544048292484	0.58473	.	.	.	.	.	0.003487	0.02889	T	.	.	.	.	.	.	.	.	.	0.762324	0.62461	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.40618	B	.;.	.;.	3.614068	0.51109	23.0	0.90763606675286401	0.20013	0.96897	0.71537	D	AEFBI	0.600580	0.59316	D	0.471952315503581	0.65458	4.825172	0.577232011699918	0.73311	5.949721	0.999999782056204	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	6.02	6.02	0.97559	5.916000	0.69712	7.632000	0.62779	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.697	0.88190	743	0.52768	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	1084.5	165	chr14	78297852	.	G	A	1084.5	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-4.121e+00;DP=3392;ExcessHet=20.9642;FS=253.512;InbreedingCoeff=-0.6055;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.45;ReadPosRankSum=-1.140e-01;SOR=12.494	GT:AD:DP:GQ:PL	0/1:100,40:157:33:33,0,1385	5	0	16	0
chr14	80916514	80916514	G	-	exonic	CEP128	.	frameshift deletion	CEP128:NM_152446:exon3:c.34delC:p.R12Afs*6,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.475e-05	0	0	0	0	0	0	0.0002	1.94e-05	3	154602	rs762242586	1.026e-05	1.026e-05	0	2.063e-05	0.0002	6.16e-06	4.89e-06	0.0001	8.647e-05	0	0	0	0	0	0	0	0	0.0002	6.571e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1443.94	35	chr14	80916513	.	CG	C	1443.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.410e-01;DP=826;ExcessHet=0.0000;FS=2.495;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.56;ReadPosRankSum=-8.340e-01;SOR=0.973	GT:AD:DP:GQ:PL	0/1:66,49:115:99:1458,0,2120	20	0	1	0
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	YES	.	.	.	.	.	.	.	1.0000	0.804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	1.317	10.32	3.66	2.343	1.628	8.987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	935.62	37	chr14	87947880	.	T	G	935.62	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-1.210e+00;DP=599;ExcessHet=6.5132;FS=356.125;InbreedingCoeff=-0.3595;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.47;ReadPosRankSum=1.35;SOR=9.869	GT:AD:DP:GQ:PL	0/1:14,9:23:99:100,0,280	9	0	10	2
chr14	91199818	91199818	G	A	exonic	DGLUCY	.	nonsynonymous SNV	DGLUCY:NM_001102368:exon11:c.G1357A:p.A453T	.	.	427	1080	15	0	0	15	0.00689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.92	P	0.453	P	0.001	N	1.000	N	1.43	L	2.23	T	-1.061	T	0.009	T	0.306	1.106	9.512	-0.083	-0.328	2.621	4.371	0.072	.	0.0004	0.0205671	0.0111	0.0006	0.0006	0.0769	0	8.99e-05	0.0077	0.0394	0.009974	1542	154602	rs114411077	0.0049	0.0049	0.0038	0.0060	0.0798	0.0048	0.0048	0.0775	0.0766	0.0005	0.0002	0	0.0798	0	0.0019	6.475e-05	0.0074	0.0401	0.0045	0.0046	0.0033	0.0058	0.0781	0.0042	0.0041	0.0718	0.0693	0.0009	0	0.0018	0	0.0781	0	0	7.351e-05	0.0052	0.0427	0.124	0.27426	T	0.738	0.07105	T	0.084	0.25884	B	0.028	0.24832	B	0.000714	0.42254	N	0.270289	1	0.08975	N	.	.	.	2.23	0.18083	T	-1.74	0.41809	N	0.279	0.34012	-1.0614	0.11410	T	0.009	0.03183	T	10	0.0037378073	0.00069	T	.	.	.	0.072	0.21020	.	.	.	.	0.8095712159820677	0.80912	0.130808477754	0.14758	.	.	.	0.028224	0.20494	T	-0.564384	0.00239	T	-0.514056	0.20900	T	0.015212250864031	0.00334	T	0.826617	0.54490	T	0.0244838	0.01285	0.049020838	0.07404	0.0244838	0.01285	0.049020838	0.07403	-6.721	0.73588	T	.	.	0.275	0.57695	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.918439	0.24368	16.37	0.97925090518359759	0.36914	0.73035	0.35731	D	AEFDBI	0.090541	0.18345	N	-0.562280617518052	0.20100	1.057143	-0.659601785264983	0.17974	0.9581703	0.473240990626478	0.20725	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.05	-0.0833	0.13029	2.877000	0.48205	0.125000	0.14969	-0.159000	0.11634	0.979000	0.35152	0.000000	0.08366	0.004000	0.06068	0.214:0.0:0.5156:0.2704	4.371	0.10683	905	0.23532	.;.;.;.;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;Domain of unknown function DUF4392;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1463.98	37	chr14	91199818	.	G	A	1463.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.372e+00;DP=804;ExcessHet=0.0000;FS=1.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=1.03;SOR=0.976	GT:AD:DP:GQ:PL	0/1:37,53:90:99:1478,0,972	20	0	1	0
chr14	93245991	93245991	G	C	exonic	BTBD7	.	nonsynonymous SNV	BTBD7:NM_001289133:exon8:c.C1364G:p.T455R	.	.	429	1078	15	0	0	15	0.00690926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.996	D	0.918	D	0.000	D	1.000	D	0.55	N	1.06	T	-0.868	T	0.140	T	0.621	4.862	27.8	5.75	2.716	7.372	19.95	0.181	0.0185222511437	0.0012	0.000399361	0.0019	0.0003	0.0023	0	0.0002	0.0027	0.0077	0.0006	0.0017658	273	154602	rs146853662	0.0018	0.0018	0.0017	0.0018	0.0161	0.0017	0.0017	0.0135	0.0125	0.0006	0.0020	0.0109	0	0.0001	0.0161	0.0017	0.0025	0.0006	0.0015	0.0015	0.0015	0.0014	0.0021	0.0013	0.0012	0.0018	0.0017	0.0004	0	0.0008	0.0089	0	0.0003	0.0170	0.0021	0.0038	0.0006	0.002	0.72154	D	0.013	0.63109	D	0.38	0.38659	B	0.064	0.43514	B	0.000000	0.84330	D	0.089972	0.999884	0.53665	D	0.695	0.17993	N	1.06	0.51228	T	-0.24	0.11366	N	0.705	0.70878	-0.8681	0.50672	T	0.140	0.45960	T	10	0.0063017607	0.00142	T	0.018522	0.40611	T	0.181	0.45247	.	.	0.29966067498	0.29572	0.39545749483455384	0.39460	0.228845249753	0.25439	0.455926537514	0.32754	T	0.016366	0.13540	T	-0.298001	0.08849	T	-0.207002	0.53981	T	0.0370415484473272	0.03163	T	.	.	.	0.36523506	0.58231	0.46023786	0.68649	0.36523506	0.58232	0.46023786	0.68650	-4.059	0.24683	T	.	.	0.120	0.45714	B	.;.;.	.;.;.	3.835431	0.55468	23.6	0.99541946073988119	0.70586	0.99126	0.91608	D	AEFBI	0.874595	0.79756	D	0.398461655940948	0.61338	4.333608	0.533030940411368	0.70228	5.474097	0.999999999999968	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.75	5.75	0.90390	7.496000	0.80367	8.605000	0.77744	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.95	0.97196	797	0.45241	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1488.98	36	chr14	93245991	.	G	C	1488.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.700e-02;DP=863;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-1.302e+00;SOR=0.650	GT:AD:DP:GQ:PL	0/1:70,58:128:99:1503,0,1867	20	0	1	0
chr14	94003260	94003260	G	T	exonic	CCDC197	.	nonsynonymous SNV	CCDC197:NM_001351596:exon5:c.G404T:p.C135F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000599042	0.0003	0	0	0.0036	0	0	0	0	0.0002199	34	154602	rs190613093	0.0006	0.0006	0.0007	0.0006	0.0112	0.0006	0.0006	0.0103	0.0099	0	0	0	0.0112	0	0	0	3.022e-05	1.433e-05	0.0001	0.0001	8.995e-05	0.0002	0.0041	9.144e-05	7.7e-05	0.0027	0.0023	0	0	0	0	0.0041	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0055502653	0.00123	T	.	.	.	.	.	.	.	.	.	0.055218033621319634	0.05462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49905	0.15565	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.243	0.47827	B	.;.	.;.	2.302678	0.29470	18.13	0.63356739121865335	0.07202	0.69225	0.34104	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.94522430182799	0.27650	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.062806	0.01542	0	0.148404	0.27265	3.6	1.75	0.23707	0.290000	0.18731	0.618000	0.20101	-0.130000	0.13190	0.000000	0.06391	0.131000	0.23000	0.107000	0.18608	0.2425:0.0:0.7575:0.0	5.913	0.18279	448	0.79501	.;.	.	.	.	.	.	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	0.03125	30.33	4	chr14	94003260	.	G	T	30.33	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-9.670e-01;DP=68;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1323;MLEAC=2;MLEAF=0.063;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-9.670e-01;SOR=0.223	GT:AD:DP:GQ:PL	0/1:1,2:3:34:40,0,34	15	0	1	5
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.66	T	0.011	B	0.017	B	0.252	N	1.000	N	0.05	N	-2.05	D	-0.896	T	0.266	T	0.154	-1.272	0.044	2.69	0.689	0.019	3.621	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	13250.74	134	chr14	94497802	.	C	T	13250.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-9.980e-01;DP=3035;ExcessHet=54.0936;FS=263.453;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=4.70;ReadPosRankSum=-4.390e-01;SOR=12.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,26:117:99:0|1:94497802_C_T:263,0,3002:94497802	0	0	21	0
chr14	94497803	94497803	C	G	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G595C:p.G199R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.172	B	0.115	B	0.252	N	1.000	N	0.73	N	-2.28	D	-0.740	T	0.386	T	0.255	0.918	8.739	2.68	0.699	-0.025	6.189	0.145	0.0338676746747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.857e-07	6.84e-07	1.364e-06	0	2.267e-05	0	0	.	.	0	2.267e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.54	0.09760	T	0.172	0.28767	B	0.115	0.31843	B	0.251813	0.15493	N	0.613802	1	0.08975	N	1.43	0.35840	L	-2.28	0.87512	D	-2.7	0.57599	D	0.145	0.14622	-0.7398	0.58463	T	0.386	0.74150	T	10	0.071498126	0.10548	T	0.033868	0.55283	D	0.145	0.38592	0.491	0.57732	0.296329037015	0.29243	0.6547714582531228	0.65413	0.17525157231	0.19731	0.369718432426	0.20792	T	0.047171	0.27643	T	-0.126477	0.32067	T	-0.336586	0.40731	T	0.715756177902222	0.41485	D	0.756024	0.37907	T	0.38583905	0.59736	0.29259723	0.55287	0.38583905	0.59736	0.29259723	0.55286	-2.678	0.07120	T	.	.	0.263	0.53064	B	.;.	.;.	2.036488	0.25887	16.92	0.96925687929522253	0.31636	0.12320	0.17196	N	AEFCI	0.146063	0.26942	N	-0.75468411629497	0.14505	0.7231708	-0.729290243828485	0.16234	0.8577662	0.0138235968800036	0.12515	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.68	0.30839	-0.429000	0.07051	0.818000	0.21820	0.599000	0.40250	0.000000	0.06391	0.002000	0.18203	0.780000	0.36908	0.0:0.5781:0.133:0.2889	6.189	0.19728	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1176.97	38	chr14	94497803	.	C	G	1176.97	.	AC=3;AF=0.100;AN=30;BaseQRankSum=-4.971e+00;DP=1771;ExcessHet=0.3300;FS=355.698;InbreedingCoeff=-0.1667;MLEAC=3;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=3.52;ReadPosRankSum=-5.900e-02;SOR=9.087	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,26:117:99:0|1:94497802_C_T:263,0,3002:94497802	12	0	3	6
chr14	95107916	95107916	C	T	exonic	DICER1	.	nonsynonymous SNV	DICER1:NM_001195573:exon15:c.G2614A:p.A872T	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors, Autosomal dominant;Pleuropulmonary blastoma, Autosomal dominant;Rhabdomyosarcoma, embryonal, 2	.	0	1519	3	0	0	3	0.000986518	.	.	137706	Hereditary_cancer-predisposing_syndrome|DICER1-related_tumor_predisposition|Pleuropulmonary_blastoma|DICER1-related_disorder|not_specified|not_provided	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0100216,MedGen:C3839822,Orphanet:284343|Human_Phenotype_Ontology:HP:0100528,MONDO:MONDO:0011014,MedGen:C1266144,OMIM:601200,Orphanet:64742|.|MedGen:CN169374|MedGen:C3661900	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.53	T	0.999	D	0.805	P	0.000	D	1.000	D	0.97	L	-2.39	D	0.100	D	0.675	D	0.78	4.427	23.5	5.86	2.937	7.744	20.563	0.488	0.0759512384247	0.0008	0.000998403	0.0008	0.0003	0.0016	0	0.0003	0.0011	0.0022	0.0004	0.0008861	137	154602	rs149242330	0.0009	0.0009	0.0010	0.0009	0.0016	0.0009	0.0009	0.0010	0.0010	0.0004	0.0010	0	0	0.0005	0.0016	0.0011	0.0009	0.0005	0.0007	0.0007	0.0008	0.0007	0.0011	0.0006	0.0006	0.0009	0.0008	0.0006	0	0.0007	0	0	0.0002	0	0.0011	0.0014	0	0.444	0.09155	T	0.752	0.05863	T	0.999	0.77913	D	0.805	0.58399	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.075	0.57047	M	-2.39	0.88377	D	-0.81	0.22294	N	0.525	0.66358	0.100	0.84176	D	0.675	0.88766	D	10	0.051948845	0.05154	T	0.075951	0.72413	D	0.488	0.77592	.	.	0.897151340255	0.89613	0.7628593713252855	0.76233	1.3263232929	0.83567	0.722635746002	0.70431	T	0.259869	0.63119	T	-0.0379579	0.46252	T	0.127148	0.78706	D	0.0562141425907612	0.06559	T	0.949705	0.80662	D	0.23219512	0.46003	0.17144088	0.39326	0.20360532	0.42443	0.1911789	0.42561	-3.806	0.23383	T	0.28022124188800623	0.37540	0.613	0.69415	P	.;.;.;.;.	.;.;.;.;.	4.931907	0.81324	27.5	0.99902186121725178	0.97350	0.95548	0.65160	D	AEFGBHCI	0.849257	0.76608	D	0.593482043823757	0.72766	5.857799	0.667119279123837	0.79890	7.179249	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.86	5.86	0.93936	7.811000	0.84631	7.735000	0.67855	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:1.0:0.0:0.0	20.563	0.99337	970	0.06235	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1555.98	36	chr14	95107916	.	C	T	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.000e-02;DP=856;ExcessHet=0.0000;FS=4.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-1.501e+00;SOR=0.409	GT:AD:DP:GQ:PL	0/1:77,65:142:99:1570,0,1908	20	0	1	0
chr14	104707532	104707537	CCCCAC	-	exonic	INF2	.	nonframeshift deletion	INF2:NM_001031714:exon8:c.1265_1270del:p.P427_P428del	Charcot-Marie-Tooth disease, dominant intermediate E, Autosomal dominant;Glomerulosclerosis, focal segmental, 5	.	83	1105	145	104	85	438	0.137729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	15742.8	47	chr14	104707525	.	ACCCCACCCCCAC	A,ACCCCAC	15742.8	.	AC=10,4;AF=0.238,0.095;AN=42;BaseQRankSum=0.324;DP=1468;ExcessHet=0.0509;FS=2.176;InbreedingCoeff=0.3577;MLEAC=10,4;MLEAF=0.238,0.095;MQ=60.00;MQRankSum=0.00;QD=30.55;ReadPosRankSum=1.57;SOR=0.392	GT:AD:DP:GQ:PL	0/1:4,38,0:42:48:1566,0,48,1578,168,1746	11	3	4	0
chr14	104946204	104946204	C	0	exonic	AHNAK2	.	.	.	.	.	438	157	442	479	6	1406	0.816803	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6429	106384.42	204	chr14	104946204	.	C	T,*	106384.42	.	AC=27,1;AF=0.643,0.024;AN=42;BaseQRankSum=-9.490e-01;DP=5401;ExcessHet=6.1794;FS=4.082;InbreedingCoeff=-0.2857;MLEAC=27,1;MLEAF=0.643,0.024;MQ=52.30;MQRankSum=-1.434e+01;QD=21.17;ReadPosRankSum=-1.256e+00;SOR=0.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,83,0:263:99:0|1:104946204_C_T:2787,0,7241,3329,7491,10820:104946204	1	7	12	0
chr14	104950782	104950782	C	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4369T:p.V1457L	.	.	438	1083	0	1	0	2	0.000922509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.013	B	0.01	B	.	.	1.000	N	1.7	L	4.89	T	-0.930	T	0.005	T	0.148	0.128	4.687	-4.04	-0.380	-0.949	3.424	0.019	0.00599650578612	.	.	0.0003	0.0024	0.0002	0	0	3.073e-05	0	0.0003	3.84e-05	1	26028	rs765125112	6.876e-05	0.0002	8.848e-05	4.884e-05	0.0013	5.756e-05	5.341e-05	0.0010	0.0009	0.0013	0.0003	0	0	0	0.0005	1.186e-05	0.0003	0.0001	0.0003	0.0010	0.0003	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	0.0010	0	0.0004	0	0	0	0	0	0	0	0.213	0.19430	T	0.746	0.04877	T	0.013	0.16609	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	4.89	0.01430	T	-0.73	0.20576	N	0.156	0.16168	-0.9302	0.44109	T	0.005	0.01578	T	9	0.01160872	0.00253	T	0.005997	0.15668	T	0.019	0.03383	0.179	0.08626	0.0297737177859	0.01360	0.0033154729442826975	0.00309	.	.	0.234129279852	0.02287	T	0.022236	0.17180	T	-0.463763	0.00931	T	-0.678238	0.07092	T	0.00186729727061535	0.00019	T	0.443756	0.12347	T	0.057052992	0.11304	0.04389729	0.05564	0.057052992	0.11304	0.04389729	0.05564	-5.07	0.37590	T	.	.	0.201	0.42563	B	.	.	-0.614637	0.01532	0.099	0.34288307491979214	0.02089	0.04094	0.09557	N	AEFBI	.	.	.	-1.2769790861655	0.03954	0.1775906	-1.39233997716938	0.03333	0.15526	0.00154432415775928	0.08631	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.16	-4.04	0.03741	-0.689000	0.05245	-12.458000	0.00523	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2216:0.2264:0.4411:0.1109	3.424	0.06976	982	0.03397	.	.	.	.	.	.	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	1	0	0	0	0.025	112.33	249	chr14	104950782	.	C	A	112.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.14;DP=5573;ExcessHet=0.0000;FS=55.079;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.15;MQRankSum=-1.121e+01;QD=0.35;ReadPosRankSum=-5.434e+00;SOR=5.991	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,24:317:99:0|1:104950782_C_A:126,0,12093:104950782	19	0	1	1
chr14	104950797	104950797	C	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4354C:p.V1452L	.	.	440	1079	2	1	0	4	0.00185014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.005	B	0.011	B	.	.	1.000	N	1.05	L	5.84	T	-0.952	T	0.002	T	0.07	1.161	9.726	-4.26	-1.659	-6.043	6.846	0.038	0.00500321622365	.	.	0.0002	0.0016	8.991e-05	0.0001	0	1.537e-05	0	0.0002	3.84e-05	1	26028	rs755412080	6.042e-05	0.0002	6.36e-05	5.722e-05	0.0006	4.957e-05	4.631e-05	0.0004	0.0003	0.0006	0.0001	0	2.546e-05	0	0	3.283e-05	0.0002	0.0002	0.0003	0.0008	0.0003	0.0003	0.0009	0.0002	0.0002	0.0006	0.0005	0.0009	0	0.0003	0	0	0	0	0	0	0	0.793	0.03175	T	0.33	0.18560	T	0.005	0.12996	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	1.23	0.30720	L	5.84	0.00647	T	-0.88	0.23808	N	0.101	0.08366	-0.9518	0.40660	T	0.002	0.00707	T	9	0.014578909	0.00306	T	0.005003	0.12629	T	0.038	0.09825	.	.	0.0138822411134	0.00435	0.0022869556933215966	0.00211	.	.	0.228116363287	0.01831	T	0.018645	0.14992	T	-0.38514	0.02890	T	-0.791004	0.02137	T	0.0148416917073506	0.00313	T	0.441356	0.12220	T	0.048643593	0.08512	0.037463795	0.03404	0.048643593	0.08512	0.037463795	0.03404	-6.197	0.47898	T	.	.	0.160	0.35352	B	.	.	-0.943408	0.00855	0.030	0.80317507789157849	0.13146	0.01476	0.04917	N	AEFBI	.	.	.	-1.44449474492981	0.02260	0.09962229	-1.56300307372266	0.01887	0.08607274	7.31560349694965E-4	0.07723	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.89	-4.26	0.03497	-4.768000	0.00218	-20.000000	0.00162	0.548000	0.25860	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.3983:0.3824:0.2193	6.846	0.23169	982	0.03397	.	.	.	.	.	.	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	1	0	0	0	0.025	693.33	249	chr14	104950797	.	C	G	693.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=9.98;DP=5619;ExcessHet=0.0000;FS=77.877;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.92;MQRankSum=-1.214e+01;QD=1.91;ReadPosRankSum=-3.658e+00;SOR=5.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:323,40:363:99:0|1:104950782_C_A:707,0,13422:104950782	19	0	1	1
chr14	104950809	104950809	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G4342A:p.A1448T	.	.	438	1080	3	1	0	5	0.00230947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.22	B	0.042	B	.	.	1.000	N	1.9	L	5.55	T	-0.952	T	0.003	T	0.155	2.989	15.97	-2.84	-0.793	-1.677	3.989	0.040	0.00408643637438	8.3e-05	0.000399361	0.0003	0.0010	0	0	0	0.0002	0	0.0007	0.0002264	35	154602	rs369187097	0.0001	0.0002	9.541e-05	0.0001	0.0008	9.751e-05	9.223e-05	0.0006	0.0006	0.0005	6.989e-05	0	2.545e-05	0	0	5.838e-05	0.0002	0.0008	0.0003	0.0009	0.0003	0.0003	0.0013	0.0002	0.0002	0.0006	0.0004	0.0007	0	0.0002	0	0	0	0	6.112e-05	0	0.0013	0.031	0.45039	D	0.287	0.21210	T	0.22	0.30288	B	0.042	0.24114	B	.	.	.	.	1	0.08975	N	0.785	0.19527	N	5.55	0.00874	T	-1.15	0.29525	N	0.184	0.19995	-0.9517	0.40678	T	0.003	0.01092	T	9	0.010934979	0.00241	T	0.004086	0.09744	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.002252569420266716	0.00209	.	.	0.199688360095	0.00448	T	0.02156	0.16767	T	-0.550204	0.00291	T	-0.620881	0.11116	T	0.0233194312746534	0.01062	T	0.454055	0.12934	T	0.037713554	0.04888	0.058374852	0.10776	0.037713554	0.04887	0.058374852	0.10776	-4.615	0.32360	T	.	.	0.074	0.05060	B	.	.	0.314484	0.06893	3.431	0.98842132617429923	0.47135	0.02121	0.06267	N	AEFBI	.	.	.	-1.20475174661264	0.04930	0.2235698	-1.34082630770981	0.03915	0.1836057	2.27063481867866E-4	0.06048	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	4.16	-2.84	0.05408	0.916000	0.28273	-3.073000	0.03085	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2547:0.4426:0.0:0.3027	3.989	0.09020	982	0.03397	.	.	.	.	.	.	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	1	0	0	0	0.025	1083.33	249	chr14	104950809	.	C	T	1083.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.87;DP=5639;ExcessHet=0.0000;FS=91.774;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=55.67;MQRankSum=-1.175e+01;QD=2.83;ReadPosRankSum=-3.066e+00;SOR=5.245	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:333,50:383:99:0|1:104950782_C_A:1097,0,13832:104950782	19	0	1	1
chr14	104950928	104950928	G	A	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.C4223T:p.P1408L	.	.	445	1068	9	0	0	9	0.0041958	.	.	2330184	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.24	T	0.763	P	0.472	P	.	.	1.000	N	2.945	M	4.24	T	-1.033	T	0.018	T	0.188	2.613	14.70	0.793	0.175	1.622	3.247	0.054	0.00329416831355	.	0.000199681	0.0002	0.0002	0.0011	0	0	1.557e-05	0	0.0006	0.0001746	27	154602	rs562346413	0.0001	0.0001	9.751e-05	0.0002	0.0009	0.0001	0.0001	0.0008	0.0007	0.0002	0.0008	0	2.544e-05	0	0.0007	4.415e-05	0.0002	0.0009	0.0002	0.0002	7.797e-05	0.0002	0.0025	9.906e-05	8.268e-05	0.0013	0.0010	0.0001	0	0	0	0.0002	0	0	9.559e-05	0	0.0025	0.02	0.49613	D	0.062	0.45318	T	0.763	0.43659	P	0.472	0.46817	P	.	.	.	.	1	0.08975	N	2.78	0.81115	M	4.24	0.02590	T	-3.95	0.73477	D	0.147	0.14905	-1.0329	0.19522	T	0.018	0.07470	T	9	0.019607812	0.00440	T	0.003294	0.07298	T	0.054	0.15330	0.284	0.24121	0.21279746466	0.20884	0.0068849801613100415	0.00655	.	.	0.211679160595	0.00884	T	0.174188	0.52332	T	-0.491415	0.00638	T	-0.578361	0.14692	T	0.0719501301072508	0.08922	T	0.79652	0.44001	T	0.047306694	0.08065	0.061023034	0.11717	0.047306694	0.08065	0.061023034	0.11716	-9.594	0.71443	D	.	.	0.114	0.22537	B	.	.	1.564129	0.20031	14.56	0.99657071837221078	0.77694	0.05276	0.11117	N	AEFBI	.	.	.	-0.374875070273658	0.26367	1.438487	-0.601829260752575	0.19445	1.043354	1.01345154810707E-4	0.05123	0.651	0.46895	0	0.573888	0.26702	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	4.16	0.793	0.17776	0.977000	0.29072	-1.240000	0.05935	-0.178000	0.10482	0.017000	0.19353	0.000000	0.08366	0.001000	0.02609	0.1214:0.4835:0.2308:0.1643	3.247	0.06398	982	0.03397	.	.	.	.	.	.	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	1	0	0	0	0.025	10178.33	69	chr14	104950928	.	G	A	10178.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.37;DP=3358;ExcessHet=0.0000;FS=4.125;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=57.60;MQRankSum=-1.759e+00;QD=15.33;ReadPosRankSum=1.56;SOR=0.930	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:390,274:664:99:0|1:104950927_T_A:10192,0,15412:104950927	19	0	1	1
chr14	104951334	104951334	T	C	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.A3817G:p.T1273A	.	.	828	686	8	0	0	8	0.0057971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.039	B	0.062	B	.	.	1.000	N	0.655	N	4.11	T	-0.903	T	0.005	T	0.049	-0.848	0.555	-3.98	-0.627	0.026	11.807	0.037	.	0.0042	0.0255591	0.0004	0.0032	0.0002	0	0	2.429e-05	0	0.0003	0.0012484	193	154602	rs200299044	0.0002	0.0012	0.0003	0.0002	0.0034	0.0002	0.0002	0.0029	0.0027	0.0034	0.0001	7.08e-05	2.576e-05	7.749e-05	0.0011	8.89e-05	0.0004	0.0007	0.0006	0.0022	0.0006	0.0006	0.0016	0.0005	0.0005	0.0012	0.0011	0.0016	0	0.0004	0	0	0	0	7.789e-05	0.0008	0.0007	0.488	0.08042	T	1.0	0.01155	T	0.039	0.21116	B	0.062	0.26930	B	.	.	.	.	1	0.08975	N	0.84	0.21119	L	4.11	0.02916	T	-0.35	0.12847	N	0.042	0.01498	-0.9033	0.47639	T	0.005	0.01506	T	9	0.0034236312	0.00060	T	.	.	.	0.037	0.09474	.	.	0.0138822411134	0.00435	0.007938354129477415	0.00758	.	.	0.236660003662	0.02498	T	0.01717	0.14057	T	-0.415667	0.01824	T	-0.834853	0.01179	T	0.00430580012968233	0.00046	T	0.39886	0.10126	T	0.029561564	0.02471	0.050798908	0.08046	0.029561564	0.02471	0.050798908	0.08045	-5.451	0.41407	T	.	.	0.081	0.08081	B	.	.	-0.450256	0.02032	0.183	0.1912137036683241	0.00631	0.00374	0.01900	N	AEFBI	.	.	.	-1.51229937310867	0.01768	0.07745686	-1.57065436800545	0.01837	0.08371356	6.06370415769246E-4	0.07437	0.475973	0.10046	0	0.573888	0.26702	0	0.547309	0.15389	0	0.528226	0.09195	0	.	.	4.18	-3.98	0.03810	-1.531000	0.02323	-4.890000	0.01939	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5377:0.0:0.4623	11.807	0.51436	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04167	1839.41	1974	chr14	104951334	.	T	C	1839.41	.	AC=1;AF=0.042;AN=24;BaseQRankSum=3.14;DP=1974;ExcessHet=0.0000;FS=4.448;InbreedingCoeff=-0.0435;MLEAC=2;MLEAF=0.083;MQ=58.12;MQRankSum=-1.095e+01;QD=6.11;ReadPosRankSum=-2.440e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/1:218,83:301:99:1849,0,6244	11	0	1	9
chr15	21652117	21652117	A	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.A234C:p.L78F,	.	.	465	768	265	24	0	313	0.169281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.738e-06	0.0002	4.777e-06	8.48e-06	8.749e-05	1.79e-06	5e-07	.	.	8.749e-05	0	7.657e-05	0	0	0	3.89e-06	0	0	8.705e-06	0.0001	0	1.8e-05	3.488e-05	0	0	.	.	3.488e-05	0	0	0	0	0	0	0	0	0	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	0.000108	0.50451	N	0.000000	0.99988	0.19925	P	.	.	.	.	.	.	.	.	.	0.182	0.19728	-1.0434	0.16294	T	0.000	0.00011	T	9	0.0018065572	0.00024	T	.	.	.	.	.	0.381	0.39807	.	.	0.040043207446890695	0.03950	.	.	0.311506986618	0.12134	T	.	.	.	-0.674746	0.00051	T	-0.598182	0.12964	T	0.00326191471079691	0.00034	T	0.287271	0.05164	T	.	.	.	.	.	.	.	.	-0.124	0.00396	T	.	.	0.073	0.04599	B	.;.	.;.	0.850845	0.12232	8.774	0.66924304402247636	0.08201	0.00687	0.02939	N	AEI	.	.	.	-1.62473285776486	0.01146	0.04979641	-1.44264627457213	0.02837	0.1312614	5.3174549639366E-4	0.07248	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.24	2.28	0.27583	-1.083000	0.03507	-0.079000	0.12201	-0.781000	0.03322	0.002000	0.15269	0.160000	0.23254	0.175000	0.21139	0.3717:0.6283:0.0:0.0	9.685	0.39261	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	7981.03	35	chr15	21652117	.	A	C	7981.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.67;DP=1245;ExcessHet=1.7912;FS=1.131;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=28.20;MQRankSum=-5.080e-01;QD=11.27;ReadPosRankSum=0.254;SOR=0.597	GT:AD:DP:GQ:PL	0/1:80,77:157:99:1820,0,1913	15	0	6	0
chr15	21652190	21652190	C	T	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C307T:p.L103F,	.	.	442	748	311	21	0	353	0.190914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.129e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.389e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.283	0.21478	T	.	.	.	.	.	.	0.261126	0.15312	N	0.485335	0.999366	0.21303	P	.	.	.	.	.	.	.	.	.	0.103	0.08646	-0.9711	0.36967	T	0.000	0.00011	T	9	0.0015220642	0.00017	T	.	.	.	.	.	.	.	.	.	0.030007910357616414	0.02949	.	.	0.290178626776	0.08949	T	.	.	.	-0.66378	0.00060	T	-0.582431	0.14328	T	0.000522953042824942	0.00004	T	0.540346	0.18307	T	.	.	.	.	.	.	.	.	-5.352	0.40455	T	.	.	0.093	0.14062	B	.;.	.;.	1.025571	0.14055	10.62	0.93500601886041435	0.23307	0.07624	0.13632	N	AEFCI	.	.	.	-0.844437362999696	0.12186	0.5925257	-0.887036193530605	0.12400	0.6376486	3.35547801273524E-4	0.06583	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	0.085	0.13749	-0.579000	0.05927	-1.581000	0.05125	0.268000	0.18485	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.0:0.3722:0.2141:0.4137	3.269	0.06470	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	13026.03	35	chr15	21652190	.	C	T	13026.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=4.04;DP=1982;ExcessHet=1.7912;FS=3.181;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.24;MQRankSum=-2.000e-03;QD=11.47;ReadPosRankSum=0.342;SOR=0.777	GT:AD:DP:GQ:PL	0/1:149,146:295:99:3525,0,3630	15	0	6	0
chr15	21652283	21652283	G	C	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.G400C:p.V134L,	.	.	444	742	317	19	0	355	0.19304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277263862	0.0001	0.0001	8.806e-05	0.0001	0.0006	8.456e-05	7.79e-05	0.0003	0.0002	0.0006	0.0002	0	0	0	0	9.504e-05	0.0002	9.725e-05	0.0003	0.0003	0.0003	0.0003	0.0008	0.0002	0.0002	0.0005	0.0004	0.0008	0	0.0003	0	0	0	0	6.04e-05	0.0020	0	.	.	.	0.136	0.34009	T	.	.	.	.	.	.	0.000469	0.44119	D	0.000000	1	0.08975	P	.	.	.	.	.	.	.	.	.	0.218	0.24385	-0.8916	0.48793	T	0.000	0.00011	T	9	0.001629144	0.00019	T	.	.	.	.	.	0.312	0.28612	.	.	0.07580462846120836	0.07516	.	.	0.250244468451	0.03793	T	.	.	.	-0.532543	0.00371	T	-0.393918	0.34092	T	0.031530545555236	0.02231	T	0.857714	0.54741	D	.	.	.	.	.	.	.	.	-5.754	0.44172	T	.	.	0.162	0.35767	B	.;.	.;.	2.487917	0.32091	18.94	0.99194466592430841	0.55083	0.14978	0.18683	N	AEFHCI	.	.	.	-0.187369143140256	0.33660	1.91217	-0.318033235840288	0.27516	1.527408	0.00464552456930878	0.10654	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	2.26	0.27418	2.575000	0.45689	1.571000	0.27417	0.299000	0.18918	0.133000	0.23395	0.004000	0.18990	0.984000	0.60418	0.2721:0.0:0.7279:0.0	5.367	0.15423	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18653.03	35	chr15	21652283	.	G	C	18653.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.441;DP=1829;ExcessHet=1.7912;FS=3.282;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.90;MQRankSum=-5.490e-01;QD=18.62;ReadPosRankSum=0.182;SOR=0.487	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:141,139:280:99:0|1:21652283_G_C:5293,0,5448:21652283	15	0	6	0
chr15	21652290	21652290	C	A	exonic	OR4N4C	.	nonsynonymous SNV	OR4N4C:NM_001365389:exon2:c.C407A:p.A136D,	.	.	445	758	303	16	0	335	0.180983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325108497	7.359e-05	0.0001	5.407e-05	9.171e-05	0.0002	5.914e-05	5.388e-05	9.719e-05	7.073e-05	4.42e-05	0.0002	0	0	0	0	7.582e-05	0.0001	6.801e-05	8.658e-05	0.0002	7.449e-05	9.95e-05	0.0003	4.464e-05	3.34e-05	7.618e-05	4.051e-05	7.641e-05	0	0.0003	0	0	0	0	2.089e-05	0.0021	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	0.000167	0.48594	D	0.000000	0.0199557	0.39625	P	.	.	.	.	.	.	.	.	.	0.631	0.64478	-0.9692	0.37366	T	0.000	0.00114	T	9	0.002110511	0.00030	T	.	.	.	.	.	.	.	.	.	0.4398908667552438	0.43906	.	.	0.395352125168	0.24421	T	.	.	.	-0.179371	0.23830	T	0.113389	0.77796	D	0.0805372903841944	0.10055	T	0.976052	0.91638	D	.	.	.	.	.	.	.	.	-13.572	0.91582	D	.	.	0.411	0.60193	A	.;.	.;.	4.705929	0.75548	26.4	0.99729135027837246	0.82619	0.93345	0.57969	D	AEFHCI	.	.	.	0.668177313905204	0.77549	6.696248	0.481736136598001	0.66782	4.996887	0.99991764154766	0.45857	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	3.2	3.2	0.35826	4.696000	0.61460	5.281000	0.48180	0.268000	0.18485	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	12.276	0.54051	.	.	GPCR, rhodopsin-like, 7TM;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	18491.03	35	chr15	21652290	.	C	A	18491.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-6.300e-01;DP=1815;ExcessHet=1.7912;FS=3.262;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=32.87;MQRankSum=-4.920e-01;QD=18.57;ReadPosRankSum=0.519;SOR=0.502	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,138:280:99:0|1:21652283_G_C:5260,0,5462:21652283	15	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	N	1.000	P	-3.045	N	8.91	T	-0.972	T	0.000	T	0.111	-2.796	0	0.487	-0.314	-1.168	6.210	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	.	.	.	.	.	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	0.875	49876.32	41	chr15	22081297	.	T	C	49876.32	.	AC=35;AF=0.875;AN=40;BaseQRankSum=9.54;DP=2745;ExcessHet=0.0454;FS=83.218;InbreedingCoeff=0.3143;MLEAC=36;MLEAF=0.900;MQ=39.56;MQRankSum=-1.124e+01;QD=20.13;ReadPosRankSum=0.928;SOR=4.411	GT:AD:DP:GQ:PL	0/1:206,87:293:99:1994,0,5665	1	16	3	1
chr15	23361304	23361304	G	A	exonic	GOLGA8H;GOLGA8S	.	nonsynonymous SNV	GOLGA8S:NM_001355465:exon11:c.G319A:p.G107R,	.	.	428	1089	5	0	0	5	0.00229043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00439297	0.0034	0.0004	0	0	0	9.848e-05	0.0036	0.0234	0.0009989	26	26028	rs546433515	0.0015	0.0014	0.0007	0.0024	0.0223	0.0015	0.0015	0.0214	0.0211	3.431e-05	0	0	0	0	0.0012	2.641e-05	0.0010	0.0223	0.0008	0.0008	0.0003	0.0013	0.0241	0.0007	0.0006	0.0205	0.0191	2.455e-05	0	0	0	0	9.509e-05	0	4.451e-05	0	0.0241	0.07	0.35349	T	0.35	0.17478	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.55	0.89561	D	-4.34	0.76822	D	0.192	0.21056	.	.	.	.	.	.	.	0.0061352253	0.00138	T	.	.	.	.	.	.	.	0.925817630216	0.92506	0.19431389580278977	0.19349	1.71108777163	0.90440	.	.	.	.	.	.	-0.167173	0.25664	T	-0.290098	0.45763	T	.	.	.	0.686731	0.29555	T	0.19442175	0.41191	0.2157385	0.46174	0.19442175	0.41191	0.2157385	0.46173	-4.343	0.28775	T	.	.	0.262	0.49654	B	.	.	1.726841	0.21980	15.43	0.96498416706865209	0.30034	0.18815	0.20414	N	AEFI	0.055452	0.10170	N	.	.	.	.	.	.	1.96434856265206E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.83	0.83	0.17990	3.904000	0.56038	2.430000	0.32726	0.328000	0.19510	0.992000	0.37556	0.056000	0.21938	0.001000	0.02609	0.0:0.0:1.0:0.0	7.631	0.27410	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	817.98	51	chr15	23361304	.	G	A	817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=1086;ExcessHet=0.0000;FS=4.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=56.26;MQRankSum=-7.900e-02;QD=10.49;ReadPosRankSum=0.899;SOR=1.296	GT:AD:DP:GQ:PL	0/1:47,31:78:99:832,0,1215	20	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	47381.92	167	chr15	23440492	.	C	*,T	47381.92	.	AC=19,19;AF=0.452,0.452;AN=42;BaseQRankSum=1.77;DP=3542;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=19,19;MLEAF=0.452,0.452;MQ=58.25;MQRankSum=-4.110e-01;QD=13.88;ReadPosRankSum=0.477;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,80,38:178:99:.:.:1859,0,2922,766,668,2489	0	0	2	0
chr15	23644873	23644873	C	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.G2870T:p.G957V,	Schaaf-Yang syndrome, Autosomal dominant	.	0	1521	1	0	0	1	0.000328623	.	.	2201803	Inborn_genetic_diseases|MAGEL2-related_disorder	MeSH:D030342,MedGen:C0950123|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.980	D	1.59	L	.	.	-0.762	T	0.227	T	.	3.300	17.09	3.94	2.488	1.087	11.802	0.064	0.112360362121	.	.	0.0002	0.0001	0	0	0	0	0	0.0012	0.0001294	20	154602	rs560259716	7.327e-05	7.319e-05	5.587e-05	9.084e-05	0.0012	6.187e-05	5.747e-05	0.0010	0.0009	2.987e-05	0	0	0	0	0.0002	8.994e-07	6.627e-05	0.0012	3.29e-05	3.942e-05	3.858e-05	2.695e-05	0.0004	1.262e-05	7.99e-06	7.324e-05	3.041e-05	7.248e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.979627	0.39581	D	.	.	.	.	.	.	.	.	.	0.156	0.16168	.	.	.	.	.	.	.	0.07565829	0.11721	T	0.11236	0.79047	D	.	.	.	.	0.0675242888579	0.06100	0.22546224060845058	0.22461	0.408297782924	0.41673	0.551594436169	0.46082	T	0.247894	0.61761	T	-0.283336	0.10317	T	-0.23021	0.51752	T	0.498588442802429	0.32578	T	0.626037	0.24205	T	0.11875234	0.27973	0.28026363	0.54001	0.11875234	0.27972	0.28026363	0.54000	-5.21	0.39043	T	.	.	0.336	0.55665	B	.;.	.;.	2.982878	0.39797	21.0	0.99749466454631963	0.84152	0.86521	0.45818	D	AEFDBI	0.294042	0.40451	N	0.203495627692455	0.51367	3.318652	0.237822625838703	0.51958	3.374191	0.999084454274947	0.38397	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	3.94	3.94	0.44807	0.179000	0.16653	2.825000	0.34987	0.599000	0.40250	0.001000	0.13787	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	11.802	0.51407	988	0.01987	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2967.98	38	chr15	23644873	.	C	A	2967.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.165e+00;DP=1010;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-7.050e-01;SOR=0.716	GT:AD:DP:GQ:PL	0/1:88,106:194:99:2982,0,2682	20	0	1	0
chr15	28387622	28387622	G	A	exonic	GOLGA8F;GOLGA8G	.	nonsynonymous SNV	GOLGA8G:NM_001368078:exon14:c.G694A:p.D232N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00145506652939	.	.	3.132e-05	0	0	0	0	0	0	0.0003	.	.	.	rs772661040	5.131e-06	6.566e-06	5.466e-06	4.834e-06	5.578e-05	1.2e-06	8.1e-07	1.902e-05	1.077e-05	0	0	0	0	0	0	0	0	5.578e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.28958	T	0.99	0.63424	D	0.827	0.59428	P	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.113	0.10056	.	.	.	.	.	.	.	0.110694885	0.20700	T	0.001455	0.02189	T	.	.	.	.	0.110392049598	0.10638	0.16042624436375658	0.15963	1.66514184945	0.89766	.	.	.	0.018441	0.14866	T	-0.466229	0.00898	T	-0.713173	0.05133	T	.	.	.	0.684232	0.29780	T	0.14547484	0.33345	0.13871856	0.33119	0.14547484	0.33345	0.13871856	0.33119	-5.952	0.45876	T	.	.	0.152	0.34094	B	.;.	.;.	1.748897	0.22250	15.54	0.9943436558955433	0.64423	0.18180	0.20153	N	AEFI	0.099358	0.20002	N	.	.	.	.	.	.	4.41246437135869E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.628	0.628	0.16854	1.608000	0.36458	2.555000	0.33284	0.167000	0.17740	0.850000	0.30445	0.129000	0.22981	0.111000	0.18785	1.0E-4:0.0:0.9999:0.0	7.078	0.24392	405	0.82444	.;.	.	.	.	.	.	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	0.02381	235.15	31	chr15	28387622	.	G	A	235.15	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.00;DP=722;ExcessHet=0.0000;FS=1.536;InbreedingCoeff=-0.0296;MLEAC=1;MLEAF=0.024;MQ=37.43;MQRankSum=-4.190e-01;QD=8.11;ReadPosRankSum=1.17;SOR=1.270	GT:AD:DP:GQ:PL	0/1:18,11:29:99:249,0,459	20	0	1	0
chr15	30089711	30089711	C	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon12:c.C886G:p.P296A,	.	.	480	1006	35	1	0	37	0.0180576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	.	.	.	.	.	.	1.000	N	.	.	2.05	T	-0.963	T	0.029	T	0.117	0.376	6.043	-2.95	-0.930	-0.712	10.425	0.041	0.0027425824986	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879887589	0.0003	0.0020	0.0002	0.0003	0.0017	0.0002	0.0002	0.0015	0.0014	6.978e-05	9.133e-05	0.0004	5.099e-05	0.0004	0.0003	0.0002	0.0002	0.0017	0.0003	0.0016	0.0003	0.0002	0.0006	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0.0002	0.0003	0	0.0003	0.0006	0.0006	0.227	0.18498	T	0.496	0.11335	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.93	0.51437	L	2.05	0.20664	T	-3.58	0.69118	D	0.106	0.09066	-0.9630	0.38606	T	0.029	0.12541	T	6	0.094885945	0.16906	T	0.002743	0.05665	T	.	.	.	.	0.0716867268079	0.06686	0.11248298003423093	0.11177	1.31169626058	0.83235	.	.	.	0.030108	0.21421	T	-0.314437	0.07363	T	-0.689443	0.06421	T	0.199820421397174	0.20406	T	.	.	.	0.048880808	0.08589	0.08423339	0.19361	0.048880808	0.08589	0.08423339	0.19361	-6.842	0.52871	T	.	.	0.087	0.11076	B	.	.	-0.105049	0.03612	0.711	0.83777591716518451	0.14914	0.00215	0.01220	N	AEFI	0.019229	0.00649	N	-1.00919157480949	0.08412	0.3943451	-1.25831076326989	0.05009	0.2376793	7.76039442725622E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	1.48	-2.95	0.05229	-0.155000	0.10101	-2.034000	0.04313	0.283000	0.18654	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2959:0.7041:0.0	10.425	0.43559	483	0.77230	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	75.22	39	chr15	30089711	.	C	G	75.22	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.009e+00;DP=684;ExcessHet=0.1072;FS=3.745;InbreedingCoeff=-0.0536;MLEAC=2;MLEAF=0.048;MQ=35.09;MQRankSum=-1.332e+00;QD=0.70;ReadPosRankSum=2.45;SOR=0.513	GT:AD:DP:GQ:PL	0/1:61,10:71:34:34,0,1737	19	0	2	0
chr15	30608689	30608689	A	C	exonic	GOLGA8H;GOLGA8N;GOLGA8T	.	nonsynonymous SNV	GOLGA8H:NM_001282490:exon8:c.A524C:p.Q175P	.	.	441	1072	9	0	0	9	0.00418021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0048349028054	.	0.000599042	0.0004	0	0	0	0	3.137e-05	0	0.0021	0.0001153	3	26028	rs528697991	0.0002	0.0002	8.336e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	2.286e-05	0	0	0	0.0007	8.49e-06	0.0001	0.0022	6.796e-05	7.237e-05	3.983e-05	9.748e-05	0.0017	3.63e-05	2.799e-05	0.0009	0.0006	0	0	6.713e-05	0	0	0	0.0035	0	0	0.0017	0.001	0.78490	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.999976	0.18612	N	3.375	0.91388	M	1.58	0.29085	T	-4.37	0.77061	D	0.359	0.40063	.	.	.	.	.	.	.	0.019641727	0.00441	T	0.004835	0.12098	T	.	.	.	.	0.0716867268079	0.06686	0.4793366454140128	0.47853	0.0943749820084	0.10650	.	.	.	0.311943	0.68380	T	-0.455482	0.01048	T	-0.451672	0.27513	T	.	.	.	0.823318	0.48387	T	0.29349217	0.52315	0.3471876	0.60377	0.29349217	0.52315	0.3471876	0.60376	-8.634	0.65313	D	.	.	0.367	0.57640	A	.	.	2.104746	0.26779	17.24	0.9615815482293687	0.28890	0.00181	0.01060	N	AEFI	0.072525	0.14477	N	.	.	.	.	.	.	1.72060249256143E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	.	.	.	0.883000	0.27838	3.870000	0.40183	0.140000	0.17674	0.071000	0.22100	1.000000	0.68203	0.012000	0.09680	0.9995:0.0:5.0E-4:0.0	4.575	0.11623	976	0.04745	.	.	.	.	.	.	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	0.02381	1333.98	93	chr15	30608689	.	A	C	1333.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.833e+00;DP=1665;ExcessHet=0.0000;FS=19.154;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.06;MQRankSum=-7.355e+00;QD=12.02;ReadPosRankSum=0.718;SOR=2.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,38:111:99:0|1:30608689_A_C:1348,0,2916:30608689	20	0	1	0
chr15	31229304	31229304	G	-	exonic	LOC283710	.	frameshift deletion	LOC283710:NM_001243538:exon2:c.75delC:p.R26Gfs*101,	.	.	454	9	11	367	681	1426	0.976409	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7857	53256.77	60	chr15	31229302	.	CGG	C,CG	53256.77	.	AC=29,13;AF=0.690,0.310;AN=42;BaseQRankSum=1.54;DP=1738;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=30,12;MLEAF=0.714,0.286;MQ=60.00;MQRankSum=0.00;QD=28.91;ReadPosRankSum=-3.970e-01;SOR=0.473	GT:AD:DP:GQ:PL	1/1:0,60,0:62:99:2435,186,0,2243,185,2133	0	10	0	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.974	D	0.014	N	0.997	N	.	.	0.86	T	-0.312	T	0.279	T	0.74	2.736	15.11	5.96	2.285	2.823	11.519	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	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	0.3333	2973.31	80	chr15	33066576	.	A	G	2973.31	.	AC=8;AF=0.333;AN=24;BaseQRankSum=-3.410e-01;DP=1903;ExcessHet=3.5521;FS=152.585;InbreedingCoeff=-0.4238;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=3.75;ReadPosRankSum=0.714;SOR=10.260	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,9:85:66:.:.:66,0,2669	4	0	8	9
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.986	D	0.799	P	0.001	D	.	.	.	.	0.34	T	-0.655	T	0.195	T	0.183	2.701	14.99	3.06	0.846	0.241	5.341	0.121	0.0297600126912	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.862e-07	0.0001	0	1.379e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.31834	T	0.298	0.32355	T	0.859	0.61523	P	0.569	0.58136	P	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.34	0.59717	T	-1.06	0.27669	N	0.523	0.55280	-0.6555	0.62473	T	0.195	0.54913	T	8	0.3596483	0.52628	T	0.02976	0.52206	D	0.121	0.33580	0.179	0.08626	0.723881056707	0.72144	.	.	0.0215900956345	0.02143	.	.	.	.	.	.	-0.156676	0.27274	T	-0.46283	0.26291	T	0.960661649703979	0.65867	D	.	.	.	.	.	.	.	.	.	.	.	-8.241	0.62700	D	.	.	0.231	0.54353	B	.;.	.;.	0.926501	0.13016	9.521	0.9948329941711106	0.67014	0.72494	0.35481	D	AEFBCI	0.313711	0.41879	N	0.240855582260182	0.53189	3.48888	0.245955025105221	0.52420	3.416909	0.999871332870031	0.44625	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	3.06	0.34374	0.207000	0.17194	0.009000	0.13411	0.599000	0.40250	0.983000	0.35670	0.800000	0.26941	0.903000	0.43903	0.1331:0.5968:0.0:0.2702	5.341	0.15286	718	0.55760	.;.	.	.	.	.	.	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	0.375	3066.26	80	chr15	33066577	.	C	G	3066.26	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-6.420e-01;DP=1917;ExcessHet=4.7172;FS=160.684;InbreedingCoeff=-0.4737;MLEAC=12;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=3.55;ReadPosRankSum=0.903;SOR=10.441	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:73,9:84:70:.:.:70,0,2609	3	0	9	9
chr15	40265939	40265939	G	A	exonic	BUB1B-PAK6;PAK6	.	nonsynonymous SNV	PAK6:NM_001276717:exon3:c.G302A:p.R101H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	2.095	M	-2.54	D	0.823	D	0.830	D	0.738	4.365	23.0	5.38	2.539	9.810	17.311	0.671	0.155564087686	.	.	3.362e-05	0	0	0	0	6.025e-05	0	0	1.94e-05	3	154602	rs763340659	1.513e-05	1.573e-05	2.324e-05	6.918e-06	3.001e-05	9.9e-06	8.46e-06	1.096e-05	8.83e-06	3.001e-05	2.262e-05	0	0	0	0	1.713e-05	1.668e-05	0	1.969e-05	1.968e-05	2.569e-05	1.342e-05	4.81e-05	5.24e-06	2.45e-06	7.97e-06	2.98e-06	4.81e-05	0	0	0	0	0	0.0034	0	0	0	0.0	0.91255	D	0.003	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000004	0.62929	D	0.061048	1	0.81001	D	0.975	0.24501	L	-2.54	0.91192	D	-4.25	0.81595	D	0.589	0.73195	0.823	0.94690	D	0.830	0.94288	D	10	0.8555777	0.84753	D	0.155564	0.83648	D	0.671	0.87820	.	.	0.956424727649	0.95596	0.49776984982383954	0.49697	0.706135060893	0.61435	0.707015514374	0.68160	T	0.715841	0.91930	D	0.158385	0.70051	D	0.178183	0.81890	D	0.968309998512268	0.68198	D	0.963604	0.88824	D	0.6249458	0.74028	0.49886546	0.71025	0.6249458	0.74029	0.49886546	0.71025	-5.85	0.45008	T	.	.	0.456	0.73190	A	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.161803	0.86488	28.9	0.99952707921374606	0.99957	0.99426	0.95879	D	AEFBI	0.908950	0.86493	D	0.761970754659504	0.83683	8.081793	0.706572114101071	0.82877	7.877458	0.999999999999902	0.74766	0.646311	0.45356	0	0.588015	0.36545	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.38	5.38	0.77279	9.970000	0.99128	11.850000	0.98050	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.943000	0.48514	0.0:0.0:1.0:0.0	17.311	0.87096	604	0.67577	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1578.98	34	chr15	40265939	.	G	A	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=1031;ExcessHet=0.0000;FS=10.077;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.16;ReadPosRankSum=1.61;SOR=1.294	GT:AD:DP:GQ:PL	0/1:60,60:120:99:1593,0,1327	20	0	1	0
chr15	41696841	41696841	C	G	exonic	MGA	.	nonsynonymous SNV	MGA:NM_001080541:exon3:c.C1831G:p.P611A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.274	B	0.065	B	0.591	N	1.000	N	0.695	N	1.12	T	-0.931	T	0.093	T	0.251	0.895	8.636	2.32	0.172	-0.075	15.375	0.066	0.00976687293165	.	.	.	.	.	.	.	.	.	.	.	.	.	rs982272047	1.52e-05	1.505e-05	9.606e-06	2.088e-05	0.0003	9.95e-06	8.5e-06	6.101e-05	2.525e-05	0	2.394e-05	0	0	0	0.0003	1.358e-05	6.674e-05	0	1.316e-05	1.314e-05	2.572e-05	0	2.941e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.002	0.72154	D	0.342	0.40110	T	.	.	.	.	.	.	0.590640	0.05590	N	1.180690	1	0.08975	N	1.995	0.54099	M	1.12	0.38718	T	-3.85	0.72353	D	0.283	0.32701	-0.9313	0.43948	T	0.093	0.35336	T	10	0.090085536	0.15664	T	0.009767	0.25495	T	0.066	0.19193	0.183	0.09131	0.102598925029	0.09809	0.19665192826293576	0.19582	0.0918249006289	0.10363	0.257526487112	0.04601	T	0.176339	0.52624	T	-0.146454	0.28869	T	-0.448148	0.27902	T	0.306380420923233	0.25265	T	0.772023	0.40277	T	.	.	.	.	.	.	.	.	-5.314	0.40081	T	.	.	0.068	0.02702	B	.;.;.;.;.;.	.;.;.;.;.;.	1.270261	0.16691	12.70	0.93486399034606837	0.23286	0.12801	0.17488	N	AEFBI	0.072604	0.14496	N	-0.721962192372811	0.15406	0.7760847	-0.706377475019728	0.16802	0.8905389	0.999660521991418	0.41534	0.719381	0.83141	0	0.653731	0.59785	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.45	2.32	0.27895	-0.057000	0.11726	0.383000	0.17802	0.599000	0.40250	0.004000	0.16614	0.019000	0.20708	0.942000	0.48361	0.6515:0.3485:0.0:0.0	15.375	0.74312	127	0.94899	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	979.98	37	chr15	41696841	.	C	G	979.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.64;DP=865;ExcessHet=0.0000;FS=7.063;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-1.881e+00;SOR=1.211	GT:AD:DP:GQ:PL	0/1:51,37:88:99:994,0,1312	20	0	1	0
chr15	41869906	41869906	G	A	exonic	SPTBN5	.	stopgain	SPTBN5:NM_016642:exon32:c.C5788T:p.R1930X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	.	.	.	.	0.735	N	1.000	A	.	.	.	.	.	.	.	.	.	10.671	44	1.74	0.086	-0.012	4.286	.	.	.	.	3.355e-05	0	0	0	0	6.575e-05	0	0	1.29e-05	2	154602	rs771424817	3.577e-05	4.652e-05	3.247e-05	3.917e-05	3.975e-05	2.752e-05	2.483e-05	2.994e-05	2.661e-05	0	2.73e-05	0	0	0	0	3.975e-05	6.93e-05	2.506e-05	6.569e-05	6.566e-05	7.706e-05	5.379e-05	0.0001	3.516e-05	2.615e-05	6.803e-05	5.087e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.734746	0.09825	N	0.858517	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.19	0.20793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205319	0.74389	D	0.251459	0.85690	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.378814	0.95112	34	0.99123019540656121	0.53037	0.02017	0.06061	N	AEFDGBI	0.042099	0.06488	N	0.0248349423591004	0.42985	2.600536	-0.334283832393814	0.26999	1.495169	0.999741869904498	0.42466	0.562547	0.31514	0	0.610034	0.51514	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	4.7	1.74	0.23636	-0.019000	0.12487	1.555000	0.27319	0.675000	0.71128	0.000000	0.06391	0.287000	0.24143	0.017000	0.10941	0.2834:0.1697:0.5468:0.0	4.286	0.10302	197	0.92378	.	.	.	.	.	.	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	0.02381	2315.98	36	chr15	41869906	.	G	A	2315.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.720e-01;DP=857;ExcessHet=0.0000;FS=1.241;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.38;ReadPosRankSum=-8.310e-01;SOR=0.590	GT:AD:DP:GQ:PL	0/1:76,85:161:99:2330,0,1998	20	0	1	0
chr15	41892953	41892953	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon3:c.C325T:p.R109C,	.	.	425	1051	42	4	0	50	0.0232342	.	.	703181	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.022	N	0.780	N	2.725	M	-3.64	D	0.588	D	0.852	D	0.577	3.240	16.86	4.23	1.177	1.401	7.083	0.518	.	0.0047	0.00519169	0.0067	0.0008	0.0023	0.0001	0.0109	0.0055	0.0115	0.0190	0.0059896	926	154602	rs62002144	0.0059	0.0059	0.0054	0.0065	0.0194	0.0058	0.0058	0.0187	0.0184	0.0009	0.0018	0.0069	0.0001	0.0098	0.0123	0.0052	0.0054	0.0194	0.0045	0.0045	0.0042	0.0049	0.0168	0.0042	0.0041	0.0138	0.0127	0.0008	0	0.0010	0.0084	0.0002	0.0130	0.0068	0.0056	0.0033	0.0168	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.022126	0.26695	N	0.254865	0.780432	0.29339	N	2.725	0.79712	M	-3.64	0.95145	D	-6.07	0.89871	D	0.402	0.44283	0.588	0.91738	D	0.852	0.95059	D	10	0.01108104	0.00244	T	.	.	.	0.518	0.79461	.	.	0.909062185264	0.90815	0.3414786615204494	0.34060	.	.	0.387197256088	0.23273	T	0.715572	0.91920	D	-0.151643	0.28054	T	0.0236792	0.71869	D	0.0439313884945464	0.04408	T	0.805019	0.45286	T	0.15299022	0.34701	0.18223727	0.41137	0.15299022	0.34701	0.18223727	0.41137	-7.991	0.61009	D	.	.	0.105	0.19438	B	.	.	4.133912	0.61886	24.4	0.99926306310736157	0.99103	0.63426	0.32086	D	AEFDGBCI	0.172957	0.30001	N	0.465640810230071	0.65096	4.779666	0.353059705884213	0.58690	4.041311	0.999998565111531	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.578056	0.29568	0	0.664235	0.64389	0	.	.	5.15	4.23	0.49319	1.457000	0.34822	5.313000	0.48269	0.676000	0.76740	0.802000	0.29747	1.000000	0.68203	0.271000	0.23793	0.0854:0.0:0.6319:0.2827	7.083	0.24420	151	0.94052	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology 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	0.04762	1621.11	40	chr15	41892953	.	G	A	1621.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.71;DP=816;ExcessHet=0.1072;FS=0.658;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=0.319;SOR=0.794	GT:AD:DP:GQ:PL	0/1:29,28:57:99:863,0,699	19	0	2	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*,	.	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	78588.79	38	chr15	42685478	.	G	A,GTGAGCTCCAA	78588.79	.	AC=13,1;AF=0.310,0.024;AN=42;BaseQRankSum=-2.021e+00;DP=5578;ExcessHet=2.0984;FS=0.534;InbreedingCoeff=-0.0714;MLEAC=13,1;MLEAF=0.310,0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-9.180e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:194,264,0:458:99:.:.:6184,0,5227,6766,5978,12744	9	2	9	0
chr15	42840406	42840406	C	G	exonic	TTBK2	.	nonsynonymous SNV	TTBK2:NM_173500:exon4:c.G245C:p.G82A,	Spinocerebellar ataxia 11, Autosomal dominant	.	2	1514	6	0	0	6	0.00197759	.	.	441741	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.902	P	0.902	P	0.000	D	1.000	D	0.75	N	1.93	T	-1.019	T	0.107	T	0.889	3.021	16.08	5.31	2.648	6.988	18.935	0.420	0.14805088156	0.0003	0.000399361	0.0003	0	0	0	0	0.0005	0	0.0002	0.0002523	39	154602	rs200821440	0.0003	0.0003	0.0003	0.0003	0.0045	0.0002	0.0002	0.0032	0.0027	0.0006	0.0001	0	0	0	0.0045	0.0003	0.0004	0.0003	0.0003	0.0003	0.0002	0.0004	0.0004	0.0002	0.0002	0.0003	0.0003	0.0002	0	0.0001	0	0	0	0.0102	0.0004	0.0009	0.0002	0.036	0.43393	D	0.04	0.59732	D	0.597	0.49745	P	0.678	0.64047	P	0.000000	0.84330	D	0.044251	1	0.81001	D	0.505	0.13445	N	1.93	0.22881	T	-5.71	0.89401	D	0.93	0.94196	-1.0190	0.24041	T	0.107	0.38955	T	10	0.42749122	0.57271	T	0.148051	0.83001	D	0.420	0.72930	.	.	0.476521225925	0.47281	0.7631474613662579	0.76262	0.903865718972	0.70756	0.779498100281	0.78851	T	0.354751	0.72186	T	-0.192418	0.21904	T	-0.155591	0.58746	T	0.26270267367363	0.23432	T	0.980302	0.94694	D	0.87693137	0.89417	0.81012625	0.88908	0.9195968	0.93209	0.79001737	0.87647	-9.112	0.68414	D	.	.	0.864	0.80551	P	.;.;.;.;.	.;.;.;.;.	4.838636	0.78981	27.0	0.95334170494985193	0.26697	0.97518	0.75271	D	AEFBI	0.883216	0.81195	D	0.472593576090897	0.65496	4.829807	0.560772000652274	0.72148	5.764658	0.999999037759939	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.31	5.31	0.75063	7.211000	0.77438	7.578000	0.60885	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.935	0.92554	99	0.95913	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|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	0	0	0	0	1	0	0	0	0	0	0	0.04762	1582.11	39	chr15	42840406	.	C	G	1582.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.03;DP=866;ExcessHet=0.1072;FS=1.913;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.04;ReadPosRankSum=-3.840e-01;SOR=0.554	GT:AD:DP:GQ:PL	0/1:35,34:69:99:766,0,931	19	0	2	0
chr15	49367607	49367607	G	A	exonic	FAM227B	.	nonsynonymous SNV	FAM227B:NM_152647:exon13:c.C1112T:p.S371L,	.	.	448	1066	8	0	0	8	0.00373832	0.9765	0.864	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.42	M	.	.	-0.052	T	0.457	T	0.849	4.545	24.6	5.16	2.699	3.809	17.595	0.503	.	.	0.00179712	0.0022	9.841e-05	0.0006	0.0002	0	4.566e-05	0.0034	0.0152	0.001824	282	154602	rs200898126	0.0009	0.0010	0.0005	0.0013	0.0153	0.0008	0.0008	0.0146	0.0143	3.457e-05	0.0003	4.15e-05	5.595e-05	0	0.0011	5.402e-05	0.0007	0.0153	0.0004	0.0004	0.0002	0.0007	0.0118	0.0003	0.0003	0.0094	0.0085	2.407e-05	0	0.0001	0	0.0002	0	0	2.942e-05	0	0.0118	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000163	0.48594	D	0.000000	0.986868	0.40498	D	2.33	0.66821	M	.	.	.	-3.58	0.69118	D	0.787	0.78356	-0.0517	0.81170	T	0.457	0.78843	T	9	0.009779274	0.00220	T	.	.	.	0.503	0.78538	0.424	0.46857	0.185906805712	0.18197	0.4293047696005406	0.42847	0.185966617838	0.20903	0.41606926918	0.27295	T	0.216017	0.57806	T	-0.027462	0.47785	T	0.20075	0.83169	D	0.0990580898032136	0.12254	T	0.659534	0.26859	T	0.49715778	0.66927	0.43086883	0.66723	0.49715778	0.66928	0.43086883	0.66723	-2.429	0.05314	T	.	.	0.620	0.69682	P	.	.	4.355123	0.66921	25.0	0.99885858538852168	0.96126	0.90997	0.52660	D	AEFI	0.676142	0.64128	D	0.620921492295187	0.74499	6.143173	0.531288507135814	0.70108	5.456708	0.969142100567708	0.29106	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.16	5.16	0.70563	4.458000	0.59832	7.296000	0.58072	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.084000	0.17470	0.0:0.0:1.0:0.0	17.595	0.87907	409	0.82198	.	.	.	.	.	.	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	0.04762	1210.11	21	chr15	49367607	.	G	A	1210.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.20;DP=696;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=0.209;SOR=0.787	GT:AD:DP:GQ:PL	0/1:22,26:48:99:733,0,522	19	0	2	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.995	M	-2.06	D	0.483	D	0.707	D	0.844	3.820	19.40	5.77	2.729	6.766	13.230	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	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3824	1772.96	148	chr15	51480616	.	G	C	1772.96	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-4.061e+00;DP=2481;ExcessHet=11.8493;FS=476.218;InbreedingCoeff=-0.5815;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=1.03;ReadPosRankSum=0.533;SOR=13.073	GT:AD:DP:GQ:PL	0/1:103,45:160:93:93,0,2373	4	0	13	4
chr15	58665172	58665172	C	G	exonic	ADAM10	.	nonsynonymous SNV	ADAM10:NM_001110:exon5:c.G510C:p.Q170H	Reticulate acropigmentation of Kitamura, Autosomal dominant	.	421	1099	2	0	0	2	0.000909091	.	.	97566	not_specified|not_provided|Alzheimer_disease_18	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014265,MedGen:C3810041,OMIM:615590	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.004	B	0.000	D	1.000	D	0.755	N	1.82	T	-0.813	T	0.242	T	0.784	2.594	14.63	2.68	0.835	0.640	8.606	0.234	0.0426733317075	0.0004	0.00119808	0.0010	0.0003	0.0020	0.0001	0.0002	0.0012	0.0011	0.0005	0.0009573	148	154602	rs61751103	0.0011	0.0011	0.0011	0.0011	0.0036	0.0010	0.0010	0.0032	0.0030	0.0002	0.0036	0	2.522e-05	0.0001	0.0016	0.0011	0.0010	0.0005	0.0015	0.0015	0.0015	0.0015	0.0067	0.0013	0.0013	0.0057	0.0053	0.0002	0	0.0067	0	0	0	0.0068	0.0015	0.0028	0.0008	0.187	0.65419	T	0.136	0.34009	T	0.001	0.07471	B	0.004	0.10090	B	0.000041	0.55875	D	0.159589	0.991262	0.81001	D	2.015	0.55033	M	1.82	0.78645	T	-0.51	0.15986	N	0.575	0.59732	-0.8134	0.54344	T	0.242	0.61083	T	10	0.01071474	0.00237	T	0.042673	0.60588	D	0.234	0.53644	0.685	0.82271	0.98118260784	0.98097	0.5022992532270973	0.50151	0.286700371962	0.31060	0.415363311768	0.27198	T	0.185215	0.53812	T	-0.133292	0.30963	T	0.0380936	0.72803	D	0.0234099628154045	0.01073	T	0.918808	0.70803	D	0.052908406	0.09936	0.07324593	0.15895	0.0761019	0.17190	0.06596576	0.13444	-2.914	0.09284	T	0.07189721746765113	0.02902	0.155	0.42141	B	.;.	.;.	2.114889	0.26916	17.28	0.99141149560674846	0.53546	0.89520	0.50037	D	AEFBI	0.309714	0.41594	N	-0.325285946502501	0.28192	1.552883	-0.158108847104476	0.33098	1.889731	0.862612383619347	0.25255	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.6	2.68	0.30839	0.639000	0.24378	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.6984:0.0:0.3016	8.606	0.32933	946	0.12043	.;.	.	.	.	.	.	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	0.02381	642.98	35	chr15	58665172	.	C	G	642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.611e+00;DP=748;ExcessHet=0.0000;FS=0.998;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.90;ReadPosRankSum=-9.330e-01;SOR=0.896	GT:AD:DP:GQ:PL	0/1:29,30:59:99:657,0,714	20	0	1	0
chr15	62702857	62702857	G	A	exonic	TLN2	.	nonsynonymous SNV	TLN2:NM_015059:exon16:c.G1997A:p.R666Q,	.	.	429	1087	5	1	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.007	B	0.002	B	0.000	N	1.000	D	0.58	N	-0.26	T	-0.922	T	0.184	T	0.171	2.224	13.39	5.65	2.824	5.510	20.096	0.063	0.00434354207226	0.0025	0.00179712	0.0024	0.0008	0.0004	0.0003	0.0009	0.0034	0.0011	0.0028	0.0025355	392	154602	rs144036109	0.0037	0.0037	0.0037	0.0037	0.0041	0.0036	0.0036	0.0040	0.0040	0.0007	0.0006	0.0087	2.519e-05	0.0016	0.0009	0.0041	0.0028	0.0030	0.0022	0.0022	0.0026	0.0018	0.0032	0.0020	0.0019	0.0028	0.0027	0.0011	0	0.0010	0.0104	0.0002	0.0009	0	0.0032	0.0024	0.0019	0.37	0.11550	T	0.446	0.13103	T	0.007	0.14184	B	0.002	0.06944	B	0.000121	0.49741	N	0.161294	0.999311	0.46639	D	0.18	0.09070	N	-0.26	0.67187	T	-0.47	0.15178	N	0.345	0.38643	-0.9220	0.45279	T	0.184	0.53255	T	10	0.00924021	0.00209	T	0.004344	0.10561	T	.	.	.	.	0.412176505671	0.40830	0.24955817701579644	0.24869	0.25343202571	0.27911	0.59320807457	0.51947	T	0.113814	0.43114	T	-0.445526	0.01200	T	-0.407617	0.32499	T	0.015177593802826	0.00331	T	0.888611	0.61875	D	0.098439634	0.23219	0.10136602	0.24263	0.098439634	0.23219	0.10136602	0.24262	-7.756	0.59396	D	.	.	0.075	0.05711	B	.	.	4.495014	0.70253	25.5	0.99475372763801351	0.66579	0.94924	0.62804	D	AEFDBI	0.554974	0.56560	D	-0.0701388921925627	0.38706	2.271198	0.151102332121979	0.47200	2.953881	0.99325067964115	0.33144	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.65	5.65	0.86881	4.816000	0.62333	6.004000	0.52535	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.241000	0.23027	0.0:0.0:1.0:0.0	20.096	0.97848	916	0.20744	I/LWEQ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1132.98	33	chr15	62702857	.	G	A	1132.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.510;DP=863;ExcessHet=0.0000;FS=2.569;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.199;SOR=1.038	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1147,0,1333	20	0	1	0
chr15	65375359	65375359	A	C	exonic	IGDCC3	.	nonsynonymous SNV	IGDCC3:NM_004884:exon2:c.T147G:p.S49R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.922	P	0.724	P	0.000	D	0.677	D	1.165	L	-0.23	T	-0.523	T	0.228	T	0.179	1.411	10.65	-6.89	-1.449	-0.882	17.974	0.242	0.0307965821773	.	.	2.501e-05	0	0	0	0	4.539e-05	0	0	1.94e-05	3	154602	rs971761313	7.552e-06	8.209e-06	9.547e-06	5.53e-06	0.0002	4.05e-06	2.96e-06	3.11e-06	2.25e-06	0	2.241e-05	0	0	0	0.0002	7.222e-06	1.663e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	4.41e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0	0.247	0.17296	T	0.013	0.63109	D	0.922	0.51142	P	0.724	0.55036	P	0.000098	0.51296	D	0.173956	0.677326	0.33200	D	0.965	0.23975	L	-0.23	0.66652	T	-1.49	0.36385	N	0.389	0.43029	-0.5233	0.67792	T	0.228	0.59296	T	10	0.19900832	0.35893	T	0.030797	0.53030	D	0.242	0.54781	0.345	0.33950	0.375861065471	0.37200	0.6680216033378564	0.66740	0.595986134547	0.54857	0.560665726662	0.47363	T	0.122205	0.44571	T	-0.242733	0.15003	T	-0.478788	0.24574	T	0.215583115816116	0.21241	T	0.762724	0.38847	T	0.14398085	0.33069	0.13174501	0.31628	0.14398085	0.33068	0.13174501	0.31627	-6.716	0.51931	T	.	.	0.241	0.47513	B	.	.	0.370218	0.07427	4.056	0.96767874632756978	0.31023	0.11964	0.16974	N	AEFGBI	0.127394	0.24473	N	-0.977155342316528	0.09093	0.4289608	-1.21052520601847	0.05740	0.2743493	0.999999701159576	0.74766	0.740716	0.97744	0	0.563428	0.19063	0	0.0	0.00061	3	0.530356	0.10902	0	.	.	5.63	-6.89	0.01501	-1.124000	0.03372	-3.505000	0.02736	-0.137000	0.12594	0.001000	0.13787	0.000000	0.08366	0.019000	0.11356	0.7256:0.0:0.2744:0.0	17.974	0.89042	457	0.78953	Immunoglobulin-like domain|Immunoglobulin subtype	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1194.98	38	chr15	65375359	.	A	C	1194.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.530e-01;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-1.005e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/1:61,49:110:99:1209,0,1684	20	0	1	0
chr15	66564803	66564803	G	A	exonic	LCTL	.	nonsynonymous SNV	LCTL:NM_207338:exon3:c.C155T:p.T52M,	.	.	420	1073	27	2	0	31	0.0142398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.968	D	0.000	N	1.000	D	1.915	M	1.48	T	-0.990	T	0.107	T	0.528	3.601	18.34	3.67	0.712	4.595	8.255	0.239	0.0355688345853	0.0048	0.00299521	0.0053	0.0011	0.0027	0.0001	0.0041	0.0064	0.0089	0.0084	0.0049999	773	154602	rs141474589	0.0044	0.0044	0.0042	0.0046	0.0153	0.0043	0.0042	0.0127	0.0117	0.0011	0.0030	0.0072	2.519e-05	0.0027	0.0153	0.0044	0.0047	0.0070	0.0035	0.0035	0.0038	0.0033	0.0068	0.0033	0.0032	0.0050	0.0046	0.0011	0	0.0029	0.0055	0.0002	0.0018	0.0170	0.0052	0.0071	0.0068	0.003	0.68238	D	0.008	0.67890	D	1.0	0.90584	D	0.968	0.71741	D	0.000024	0.55875	N	0.154862	0.988993	0.81001	D	1.715	0.44382	L	1.48	0.31731	T	-0.53	0.16393	N	0.778	0.77507	-0.9904	0.32500	T	0.107	0.38979	T	10	0.02867639	0.00998	T	0.035569	0.56429	D	0.239	0.54358	.	.	0.692761960973	0.69012	0.48820413123872963	0.48740	0.831366708963	0.67633	0.648484647274	0.59770	T	0.03445	0.23326	T	-0.401514	0.02263	T	-0.344678	0.39814	T	0.0219578331197526	0.00903	T	0.873913	0.58386	D	0.37251082	0.58770	0.32506245	0.58425	0.37251082	0.58770	0.32506245	0.58424	-5.302	0.39963	T	.	.	0.091	0.13268	B	.	.	4.548931	0.71574	25.7	0.99884995108647867	0.96049	0.91953	0.54621	D	AEFDBI	0.281037	0.39471	N	0.436369099550584	0.63436	4.577046	0.365866373287378	0.59470	4.12502	0.999954569944967	0.48110	0.50284	0.20314	0	0.624306	0.53593	0	0.338622	0.05889	2	0.613276	0.41899	0	.	.	5.55	3.67	0.41236	4.005000	0.56787	9.531000	0.80947	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.138000	0.19872	0.2446:0.0:0.7554:0.0	8.255	0.30912	688	0.59122	Glycosyl hydrolases family 1, N-terminal conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1755.98	35	chr15	66564803	.	G	A	1755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.37;DP=887;ExcessHet=0.0000;FS=3.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=-2.079e+00;SOR=0.986	GT:AD:DP:GQ:PL	0/1:87,64:151:99:1770,0,2047	20	0	1	0
chr15	68214373	68214373	C	G	exonic	CLN6	.	nonsynonymous SNV	CLN6:NM_017882:exon3:c.G214C:p.E72Q,	Ceroid lipofuscinosis, neuronal, 6, Autosomal recessive;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, Autosomal recessive	YES	2	1512	8	0	0	8	0.00263852	.	.	193642	not_specified|Inborn_genetic_diseases|not_provided|Ceroid_lipofuscinosis,_neuronal,_6B_(Kufs_type)|Neuronal_ceroid_lipofuscinosis	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008768,MedGen:C5561927,OMIM:204300|MONDO:MONDO:0016295,MedGen:C0027877,OMIM:PS256730,Orphanet:216,Orphanet:79263	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.099	B	0.066	B	0.000	N	1.000	D	1.67	L	-3.48	D	0.393	D	0.761	D	0.692	3.095	16.34	4.44	1.263	3.735	15.012	0.607	.	0.0012	0.00579073	0.0029	0.0039	0.0005	0	0	0.0002	0.0055	0.0173	0.0025485	394	154602	rs104894483	0.0012	0.0012	0.0008	0.0017	0.0163	0.0012	0.0012	0.0156	0.0153	0.0045	0.0002	0.0003	7.558e-05	0	0.0061	8.276e-05	0.0017	0.0163	0.0016	0.0016	0.0013	0.0019	0.0129	0.0015	0.0014	0.0103	0.0094	0.0041	0	0.0003	0	0	0	0	0.0001	0.0009	0.0129	0.197	0.27426	T	0.059	0.49120	T	0.003	0.11197	B	0.028	0.21332	B	0.000122	0.49741	N	0.172007	0.99281	0.81001	D	1.955	0.52871	M	-3.48	0.94584	D	-1.39	0.35194	N	0.327	0.40063	0.393	0.88985	D	0.761	0.91869	D	10	0.013344973	0.00283	T	.	.	.	0.607	0.84559	.	.	0.945954242979	0.94538	0.779437328201181	0.77894	0.851204937113	0.68538	0.369264423847	0.20726	T	0.704847	0.91532	D	-0.0894408	0.38169	T	0.113028	0.77773	D	0.0370855303537192	0.03170	T	0.90181	0.65830	D	0.07654831	0.17318	0.07454623	0.16320	0.09027843	0.21119	0.07138643	0.15281	-5.557	0.42398	T	0.3812480700580007	0.47564	0.102	0.46285	B	.;.;.;.	.;.;.;.	3.491926	0.48808	22.7	0.99111463123207033	0.52750	0.87751	0.47397	D	AEFGBCI	0.556453	0.56648	D	-0.09129572497973	0.37774	2.20251	0.0476089026384635	0.41957	2.529481	0.99999999476799	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.36	4.44	0.53164	3.882000	0.55873	4.126000	0.42002	0.597000	0.34315	0.999000	0.42656	1.000000	0.68203	0.678000	0.33484	0.0:0.8268:0.1732:0.0	15.012	0.71219	705	0.57330	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1128.98	36	chr15	68214373	.	C	G	1128.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.52;ReadPosRankSum=-1.312e+00;SOR=0.752	GT:AD:DP:GQ:PL	0/1:53,45:98:99:1143,0,1285	20	0	1	0
chr15	70833019	70833019	G	A	exonic	LARP6	.	nonsynonymous SNV	LARP6:NM_018357:exon3:c.C509T:p.T170I,	.	.	424	1095	3	0	0	3	0.00136799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.003	B	0.000	D	1.000	D	-0.125	N	1.02	T	-1.082	T	0.039	T	0.128	2.462	14.19	2.03	1.236	3.289	2.259	0.077	0.00663301832547	0.0022	0.00119808	0.0027	0.0007	0.0004	0	0.0012	0.0034	0.0011	0.0050	0.0027425	424	154602	rs139275643	0.0037	0.0037	0.0037	0.0038	0.0045	0.0037	0.0036	0.0042	0.0041	0.0005	0.0007	0.0016	5.039e-05	0.0011	0.0012	0.0043	0.0031	0.0045	0.0020	0.0020	0.0022	0.0018	0.0039	0.0018	0.0018	0.0030	0.0029	0.0005	0.0088	0.0009	0.0006	0.0002	0.0012	0	0.0034	0	0.0039	0.139	0.25768	T	0.179	0.29540	T	0.001	0.07471	B	0.003	0.08700	B	0.000080	0.52346	D	0.168551	0.618694	0.32685	D	-0.16	0.04340	N	1.02	0.40749	T	0.04	0.06488	N	0.129	0.12341	-1.0824	0.06890	T	0.039	0.16978	T	10	0.0061320066	0.00138	T	0.006633	0.17501	T	0.077	0.22490	.	.	0.0934897674506	0.08844	0.40286894164339615	0.40202	0.505573314302	0.48791	0.489132374525	0.37318	T	0.021892	0.16970	T	-0.553311	0.00279	T	-0.566478	0.15774	T	0.0168105729382757	0.00435	T	0.831017	0.49766	T	0.021235604	0.00716	0.03707758	0.03284	0.021235604	0.00716	0.03707758	0.03284	-3.567	0.17381	T	.	.	0.090	0.12512	B	.	.	2.772199	0.36392	20.2	0.99176555690485957	0.54556	0.84450	0.43532	D	AEFGBI	0.231205	0.35447	N	-0.366084545845896	0.26686	1.458286	-0.163993262476276	0.32872	1.874617	0.999958574653744	0.48110	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.43	2.03	0.25714	3.318000	0.51686	5.657000	0.49204	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1011:0.1668:0.4053:0.3268	2.259	0.03814	900	0.24599	La-type HTH domain|La-type HTH domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	6322.08	33	chr15	70833019	.	G	A	6322.08	.	AC=2;AF=0.048;AN=42;DP=1056;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.27;SOR=0.826	GT:AD:DP:GQ:PL	1/1:0,190:190:99:6350,570,0	20	1	0	0
chr15	75689462	75689462	G	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.C1603T:p.R535W,	.	.	426	1082	14	0	0	14	0.00642792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.359	B	0.048	B	0.005	N	0.944	D	1.995	M	0.84	T	-0.909	T	0.120	T	0.519	1.149	9.680	4.28	1.152	3.099	11.758	0.101	.	.	.	0.0182	0.1443	0.0161	0.0009	0.0030	0.0083	0.0115	0.0025	3.84e-05	1	26028	rs745996000	0.0005	0.0030	0.0005	0.0005	0.0012	0.0005	0.0005	0.0009	0.0008	0.0012	0.0008	3.839e-05	0	0.0002	0.0002	0.0006	0.0005	0.0001	0.0011	0.0089	0.0012	0.0010	0.0015	0.0010	0.0009	0.0012	0.0011	0.0010	0	0.0013	0	0	0.0003	0.0036	0.0015	0.0029	0	0.098	0.30800	T	0.148	0.32675	T	0.359	0.33845	B	0.048	0.24975	B	0.004928	0.33255	N	0.197448	0.943647	0.37418	D	1.83	0.48079	L	0.84	0.47477	T	-4.03	0.74348	D	0.241	0.27197	-0.9095	0.46916	T	0.120	0.41950	T	10	0.0055229664	0.00122	T	.	.	.	0.101	0.28911	.	.	.	.	0.5942112410034864	0.59351	0.414727290251	0.42141	0.420476049185	0.27901	T	0.179246	0.53016	T	-0.0768624	0.40222	T	-0.348184	0.39413	T	0.0232633917681905	0.01055	T	0.848915	0.53103	T	0.19802327	0.41690	0.11960068	0.28866	0.19802327	0.41689	0.11960068	0.28866	-5.477	0.41653	T	.	.	0.109	0.20780	B	.	.	2.737894	0.35852	20.1	0.99660942033087574	0.77947	0.94482	0.61308	D	AEFGBI	0.547532	0.56119	D	-0.123978638809798	0.36349	2.099944	-0.0872515613291245	0.35916	2.083678	0.998336080510221	0.36777	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.21	4.28	0.50183	3.428000	0.52560	4.450000	0.43419	0.590000	0.31872	0.974000	0.34632	0.994000	0.32194	0.281000	0.24041	0.0:0.0:0.6801:0.3199	11.758	0.51157	162	0.93704	.	.	.	.	.	.	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	0.02381	77.98	40	chr15	75689462	.	G	A	77.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.87;DP=719;ExcessHet=0.0000;FS=10.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.21;MQRankSum=-7.586e+00;QD=1.32;ReadPosRankSum=-1.819e+00;SOR=2.980	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,6:59:92:0|1:75689462_G_A:92,0,2207:75689462	20	0	1	0
chr15	75689475	75689475	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1590A:p.M530I,	.	.	424	1081	17	0	0	17	0.00780174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.0	B	0.001	B	0.063	N	1.000	N	-0.345	N	0.95	T	-1.058	T	0.038	T	0.107	-2.232	0.005	1.85	0.470	0.407	3.403	0.023	.	.	.	0.0174	0.1466	0.0138	0.0011	0.0026	0.0075	0.0128	0.0024	0.0001617	25	154602	rs111241892	6.957e-05	0.0017	7.541e-05	6.367e-05	0.0023	5.82e-05	5.429e-05	0.0018	0.0017	0.0023	0.0001	0.0001	2.522e-05	5.741e-05	0.0002	1.174e-05	1.668e-05	4.644e-05	0.0006	0.0089	0.0007	0.0005	0.0023	0.0005	0.0005	0.0019	0.0017	0.0023	0	0.0001	0	0	0	0.0036	1.482e-05	0.0005	0	0.6	0.05635	T	0.822	0.03806	T	0.0	0.02946	B	0.001	0.04355	B	0.063178	0.22045	N	0.404516	1	0.08975	N	-0.14	0.04484	N	0.95	0.43279	T	0.29	0.04161	N	0.085	0.06190	-1.0584	0.12159	T	0.038	0.16376	T	10	0.006351322	0.00143	T	.	.	.	0.023	0.04649	0.388	0.40951	.	.	0.20265331753997656	0.20182	0.367565022576	0.38318	0.307521432638	0.11533	T	0.031651	0.22138	T	-0.30488	0.08207	T	-0.675716	0.07247	T	0.00399998134396657	0.00042	T	0.641436	0.25361	T	0.092039354	0.21582	0.06114747	0.11762	0.092039354	0.21581	0.06114747	0.11762	-4.344	0.28789	T	.	.	0.162	0.35746	B	.	.	0.851256	0.12232	8.778	0.32394098162709423	0.01875	0.72709	0.35580	D	AEFGBI	0.131795	0.25087	N	-0.683284506569927	0.16498	0.8410988	-0.540082985921979	0.21069	1.138083	0.949165715942953	0.27833	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.530356	0.10902	0	.	.	5.04	1.85	0.24418	0.571000	0.23372	1.535000	0.27187	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.040000	0.14268	0.2812:0.365:0.274:0.0797	3.403	0.06906	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	0.02381	74.98	40	chr15	75689475	.	C	T	74.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.138e+00;DP=747;ExcessHet=0.0000;FS=13.735;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.05;MQRankSum=-7.718e+00;QD=1.23;ReadPosRankSum=-1.788e+00;SOR=3.469	GT:AD:DP:GQ:PL	0/1:54,7:61:89:89,0,1766	20	0	1	0
chr15	75690325	75690325	C	A	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G740T:p.R247L,	.	.	242	1239	41	0	0	41	0.0162763	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.579	P	0.155	B	0.964	N	1.000	N	1.04	L	-1.15	T	-0.845	T	0.136	T	0.268	2.263	13.53	-7.51	-1.409	-0.268	12.053	0.336	.	.	.	0.0072	0.0221	0.0051	0.0002	0.0016	0.0082	0.0106	0.0026	4.53e-05	7	154602	rs150241616	0.0023	0.0075	0.0022	0.0023	0.0104	0.0022	0.0022	0.0083	0.0075	0.0076	0.0012	0.0014	0	0.0013	0.0104	0.0024	0.0019	0.0007	0.0003	0.0038	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	0.0006	0	0.0003	0	0	9.443e-05	0.0035	0.0003	0.0010	0	0.027	0.46513	D	0.073	0.43159	T	0.579	0.38789	P	0.155	0.34417	B	0.963717	0.07733	N	1.017680	0.999987	0.18198	N	1.59	0.40313	L	-1.15	0.77964	T	-2.52	0.54702	D	0.26	0.29429	-0.8451	0.52304	T	0.136	0.45164	T	10	0.0137501955	0.00291	T	.	.	.	0.336	0.65816	.	.	0.456089687795	0.45231	0.5956843285600265	0.59498	0.526958073932	0.50312	0.209487393498	0.00790	T	0.353228	0.72055	T	-0.0896309	0.38139	T	-0.366525	0.37296	T	0.0229721219108999	0.01020	T	0.69823	0.30825	T	0.0856866	0.19887	0.17583492	0.40076	0.0856866	0.19887	0.17583492	0.40075	-4.458	0.30335	T	.	.	0.087	0.11414	B	.	.	0.218507	0.06011	2.453	0.95054651626861075	0.26075	0.16596	0.19462	N	AEFBI	0.241601	0.36319	N	-1.19395214962389	0.05091	0.2312774	-1.31445633219564	0.04242	0.1997009	0.999317597206819	0.39113	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.21	-7.51	0.01203	0.200000	0.17055	-6.465000	0.01391	-1.914000	0.00512	0.003000	0.16062	0.000000	0.08366	0.346000	0.25568	0.0:0.1131:0.1092:0.7777	12.053	0.52813	162	0.93704	Laminin G domain|Laminin G domain|Laminin 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	1	0	0	0	0.02381	709.98	38	chr15	75690325	.	C	A	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.34;DP=868;ExcessHet=0.0000;FS=8.780;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=47.84;MQRankSum=-5.609e+00;QD=8.16;ReadPosRankSum=-2.013e+00;SOR=1.807	GT:AD:DP:GQ:PL	0/1:59,28:87:99:724,0,1559	20	0	1	0
chr15	77470925	77470925	G	C	exonic	HMG20A	.	nonsynonymous SNV	HMG20A:NM_001304504:exon5:c.G466C:p.A156P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	4.01	H	-3.87	D	1.083	D	0.959	D	0.978	5.239	33	5.88	2.780	9.476	20.219	0.926	0.36457501465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0017	0.0063	0.0018	0.0016	0.0020	0.0016	0.0016	0.0019	0.0019	0.0015	7.544e-05	0.0004	0.0003	1.886e-05	0.0013	0.0020	0.0012	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	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	4.49	0.98946	H	-3.87	0.95922	D	-4.76	0.80340	D	0.951	0.95956	1.083	0.98998	D	0.959	0.98660	D	10	0.8971046	0.90150	D	0.364575	0.92596	D	0.926	0.98192	0.642	0.77903	0.968703745723	0.96836	0.8872671032323289	0.88695	1.50727079688	0.87154	0.880620002747	0.94044	D	0.900783	0.98052	D	0.576488	0.96944	D	0.590309	0.96894	D	0.999476850032806	0.97549	D	0.962604	0.86052	D	0.9461271	0.95872	0.9591841	0.98928	0.9461271	0.95872	0.9591841	0.98928	-15.627	0.97148	D	.	.	1.000	0.99585	P	.;.;.;.	.;.;.;.	6.308495	0.94988	34	0.99786623120083784	0.87308	0.99689	0.98687	D	AEFGBI	0.951203	0.96554	D	1.13537706431312	0.98738	19.20727	1.06046795470621	0.99493	23.16804	0.9999999999968	0.74766	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	9.602000	0.97623	11.852000	0.98107	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.219	0.98314	0	0.99858	High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain;High mobility group box domain|High mobility group box domain|High mobility group box domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.09524	176.52	30	chr15	77470925	.	G	C	176.52	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.775e+00;DP=955;ExcessHet=0.6776;FS=359.107;InbreedingCoeff=-0.1149;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.80;ReadPosRankSum=0.794;SOR=10.021	GT:AD:DP:GQ:PL	0/1:25,10:35:17:17,0,631	17	0	4	0
chr15	80979281	80979281	C	T	exonic	MESD	.	nonsynonymous SNV	MESD:NM_015154:exon3:c.G643A:p.D215N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.003	B	0.005	B	0.735	N	1.000	N	0.205	N	.	.	-1.012	T	0.063	T	0.022	2.518	14.38	1.12	0.198	0.633	7.887	0.043	0.00374647076671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.375e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.23007	T	0.033	0.53072	D	0.003	0.11197	B	0.005	0.11217	B	0.735015	0.06393	N	1.113020	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.65	0.18877	N	0.07	0.04307	-1.0125	0.26133	T	0.063	0.26172	T	9	0.06306937	0.08161	T	0.003746	0.08682	T	0.043	0.11576	0.339	0.32979	0.128874641272	0.12493	0.09925729230670419	0.09856	0.150817111893	0.17009	0.336606562138	0.15930	T	0.174057	0.52315	T	-0.302098	0.08464	T	-0.671719	0.07498	T	0.096747561527059	0.11995	T	0.676232	0.28483	T	0.095348746	0.22439	0.046599172	0.06530	0.095348746	0.22438	0.046599172	0.06530	-3.729	0.19747	T	.	.	0.065	0.01884	B	.;.	.;.	1.688363	0.21515	15.23	0.98883705611896733	0.47877	0.35702	0.25363	N	AEFBI	0.116050	0.22792	N	-0.886794806833915	0.11156	0.5368538	-0.856471271489746	0.13132	0.6795677	0.996541291354058	0.34819	0.722319	0.85440	0	0.702456	0.74545	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.07	1.12	0.19700	0.657000	0.24647	-0.506000	0.08774	0.599000	0.40250	0.228000	0.24622	0.000000	0.08366	0.237000	0.22922	0.0:0.6053:0.0:0.3947	7.887	0.28822	958	0.09170	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	35.98	38	chr15	80979281	.	C	T	35.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.182e+00;DP=1037;ExcessHet=0.0000;FS=73.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=3.15;SOR=6.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,13:86:50:0|1:80979279_A_G:50,0,2372:80979279	20	0	1	0
chr15	83008519	83008519	-	A	exonic	C15orf40	.	frameshift insertion	C15orf40:NM_001160113:exon3:c.394dupT:p.L132Ffs*69,	.	.	452	773	160	3	134	300	0.0969626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4025.8	36	chr15	83008518	.	CA	C,CAA	4025.8	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-3.980e-01;DP=1512;ExcessHet=11.8493;FS=0.573;InbreedingCoeff=-0.4535;MLEAC=5,8;MLEAF=0.119,0.190;MQ=59.99;MQRankSum=0.00;QD=4.26;ReadPosRankSum=0.964;SOR=0.734	GT:AD:DP:GQ:PL	0/2:35,5,24:70:99:483,558,1625,0,681,744	8	0	5	0
chr15	84240004	84240004	A	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.A650T:p.E217V,	.	.	987	531	4	0	0	4	0.00375235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	.	.	1.000	N	.	.	1.7	T	-0.998	T	0.055	T	0.228	0.554	6.995	.	-0.313	-6.428	4.012	0.020	0.00234282258124	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1315445023	0.0002	0.0005	0.0001	0.0002	0.0014	0.0001	0.0001	0.0008	0.0007	0.0014	0.0002	0.0003	4.747e-05	0.0002	0	0.0001	0.0002	9.369e-05	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.007	0.59928	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.7	0.26885	T	-3.98	0.73788	D	0.096	0.07673	-0.9975	0.30618	T	0.055	0.23224	T	5	0.121462464	0.23025	T	0.002343	0.04535	T	0.020	0.03691	0.376	0.38994	0.0482279557977	0.04254	0.026193457750590204	0.02569	2.12773366393	0.95105	.	.	.	0.046325	0.27389	T	-0.251195	0.13953	T	-0.5986	0.12930	T	0.227035511211192	0.21809	T	0.629237	0.24427	T	0.20441715	0.42551	0.16998494	0.39073	0.20441715	0.42551	0.16998494	0.39073	-9.711	0.72163	D	.	.	0.207	0.43297	B	.	.	1.425485	0.18429	13.73	0.89710833754392194	0.19034	0.00215	0.01220	N	AEFI	0.058936	0.11093	N	-1.007917083291	0.08438	0.3956685	-1.27565754807782	0.04762	0.2253782	1.4212593479489E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	.	.	.	-4.550000	0.00250	-1.695000	0.04899	0.195000	0.17883	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.7158:0.0:0.2842:0.0	4.012	0.09115	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1111	38.26	7	chr15	84240004	.	A	T	38.26	.	AC=2;AF=0.111;AN=18;DP=173;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3531;MLEAC=2;MLEAF=0.111;MQ=32.98;QD=19.13;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:4:1|1:84240004_A_T:48,4,0:84240004	8	1	0	12
chr15	84240189	84240189	C	T	exonic	GOLGA6L4	.	nonsynonymous SNV	GOLGA6L4:NM_001267536:exon6:c.C835T:p.R279C,	.	.	753	753	16	0	0	16	0.0105125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	.	.	0.994	N	.	.	2.4	T	-1.009	T	0.036	T	0.204	0.413	6.242	0.762	0.748	-0.343	4.972	0.024	0.000722496831276	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171360296	0.0010	0.0077	0.0011	0.0009	0.0021	0.0009	0.0009	0.0012	0.0011	0.0002	0.0003	0.0006	0.0003	0.0008	0.0021	0.0013	0.0014	0.0002	0.0002	0.0006	0.0002	0.0003	0.0004	0.0002	0.0001	0.0001	0.0001	0.0001	0	0.0004	0.0004	0	0.0007	0	0.0002	0.0006	0	0.1	0.30515	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.23639	N	.	.	.	2.4	0.15608	T	-2.26	0.50502	N	0.099	0.08088	-1.0086	0.27354	T	0.036	0.15334	T	6	0.15234295	0.28778	T	7.22E-4	0.00472	T	0.024	0.04979	0.426	0.47185	0.0716867268079	0.06686	0.02407774487081985	0.02358	2.36362769044	0.96864	.	.	.	0.079796	0.36213	T	-0.314989	0.07317	T	-0.690236	0.06375	T	0.0766820126804913	0.09557	T	0.456254	0.13085	T	0.057518452	0.11456	0.05492262	0.09536	0.057518452	0.11456	0.05492262	0.09536	-3.926	0.22693	T	.	.	0.170	0.37445	B	.	.	1.326514	0.17311	13.09	0.57909294928781596	0.05873	0.00472	0.02260	N	AEFI	0.035008	0.04434	N	-0.663721429905769	0.17061	0.8747681	-0.894485716978703	0.12224	0.6275393	6.87443934965625E-6	0.01202	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	0.762	0.762	0.17600	-6.096000	0.00099	-10.050000	0.00745	-1.170000	0.01400	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:1.0:0.0:0.0	4.972	0.13469	778	0.48011	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.125	792.36	32	chr15	84240189	.	C	T	792.36	.	AC=5;AF=0.125;AN=40;BaseQRankSum=0.769;DP=806;ExcessHet=1.1607;FS=14.484;InbreedingCoeff=-0.1535;MLEAC=5;MLEAF=0.125;MQ=35.38;MQRankSum=-2.890e-01;QD=4.48;ReadPosRankSum=0.367;SOR=1.471	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,7:25:99:0|1:84240169_A_G:200,0,735:84240169	15	0	5	1
chr15	84512452	84512452	C	0	exonic	GOLGA6L4	.	.	.	.	.	671	744	60	0	47	107	0.0387597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	4524.06	139	chr15	84512452	.	C	T,*	4524.06	.	AC=5,8;AF=0.119,0.190;AN=42;BaseQRankSum=-4.670e-01;DP=3555;ExcessHet=11.8493;FS=1.281;InbreedingCoeff=-0.4584;MLEAC=5,8;MLEAF=0.119,0.190;MQ=45.57;MQRankSum=1.25;QD=1.92;ReadPosRankSum=0.576;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:161,0,34:195:99:0|1:84512435_GCCTCTCCTCCTGTT_G:661,1125,7669,0,6072,5815:84512435	8	0	5	0
chr15	85580602	85580602	T	G	exonic	AKAP13	.	nonsynonymous SNV	AKAP13:NM_006738:exon7:c.T2534G:p.V845G	.	.	432	110	446	510	24	1490	0.869514	.	.	2814437	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.0	B	0.002	B	.	.	1.000	P	0.345	N	2.55	T	-0.957	T	0.017	T	0.404	1.720	11.71	0.070	-0.113	-1.248	6.569	0.179	0.00506693407359	.	0.000599042	0.0032	0.0007	0.0032	0	0.0002	0.0039	0.0088	0.0048	0.0001153	3	26028	rs4075256	0.0025	0.0025	0.0024	0.0027	0.0151	0.0025	0.0024	0.0125	0.0116	0.0004	0.0025	0.0292	2.519e-05	0.0001	0.0151	0.0018	0.0045	0.0047	0.0023	0.0023	0.0022	0.0024	0.0048	0.0021	0.0020	0.0033	0.0028	0.0003	0	0.0016	0.0297	0	9.45e-05	0.0171	0.0025	0.0038	0.0048	0.423	0.10659	T	0.027	0.63918	D	0.0	0.02946	B	0.001	0.06944	B	.	.	.	.	1	0.08975	P	1.245	0.31408	L	2.55	0.13795	T	-1.02	0.26843	N	0.078	0.06720	-0.9574	0.39662	T	0.017	0.06998	T	8	0.0039428473	0.00076	T	0.005067	0.12846	T	0.179	0.44899	.	.	0.422182357427	0.41838	0.1432355315383818	0.14246	0.0440664064185	0.04745	0.228416800499	0.01853	T	0.010925	0.27888	T	-0.552168	0.00283	T	-0.564974	0.15912	T	0.00203509816072437	0.00021	T	0.324768	0.06643	T	0.1311308	0.30576	0.06462619	0.12981	0.1311308	0.30576	0.06462619	0.12981	-3.647	0.18539	T	.	.	0.065	0.06069	B	.;.;.	.;.;.	0.426331	0.07970	4.681	0.95987591324156307	0.28377	0.04720	0.10414	N	AEFDBHCI	.	.	.	-1.3770577569871	0.02854	0.1266311	-1.35682337870166	0.03726	0.1743996	0.999998904741782	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.65145	0.50148	0	0.678554	0.66404	0	.	.	5.68	0.070	0.13688	-1.139000	0.03324	-0.569000	0.08436	-0.832000	0.02862	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4775:0.1299:0.3926	6.569	0.21723	714	0.56256	.;.;.	.	.	.	.	.	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	0.7619	59865.85	115	chr15	85580602	.	T	C,G	59865.85	.	AC=32,1;AF=0.762,0.024;AN=42;BaseQRankSum=1.83;DP=2553;ExcessHet=4.7172;FS=0.631;InbreedingCoeff=-0.2727;MLEAC=32,1;MLEAF=0.762,0.024;MQ=60.00;MQRankSum=0.00;QD=23.83;ReadPosRankSum=0.419;SOR=0.578	GT:AD:DP:GQ:PL	0/1:68,68,0:136:99:1823,0,1759,2027,1963,3989	0	11	9	0
chr15	88530840	88530840	T	C	exonic	DET1	.	nonsynonymous SNV	DET1:NM_001144074:exon2:c.A866G:p.D289G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.505	P	0.383	B	0.000	D	1.000	D	1.175	L	.	.	-0.761	T	0.199	T	0.564	3.915	19.91	6.17	2.371	7.297	16.003	0.318	0.00613817741382	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.51853	D	0.009	0.66756	D	0.505	0.37231	P	0.27	0.39872	B	0.000016	0.62929	D	0.152324	0.999966	0.81001	D	1.385	0.34509	L	.	.	.	-3.25	0.65283	D	0.479	0.51672	-0.7606	0.57373	T	0.199	0.55428	T	9	0.52906257	0.63078	D	0.006138	0.16082	T	0.318	0.64008	0.456	0.52102	0.0675242888579	0.06100	0.595297197239194	0.59459	0.736621479123	0.63016	0.657280743122	0.61021	T	0.425961	0.77591	T	0.0656937	0.60321	T	-0.143412	0.59821	T	0.961599886417389	0.66126	D	0.915108	0.69728	D	0.35442662	0.57409	0.35527286	0.61058	0.35442662	0.57409	0.35527286	0.61057	-3.559	0.17871	T	.	.	0.422	0.62236	A	.;.;.;.	.;.;.;.	3.993478	0.58790	24.0	0.9968250448962318	0.79373	0.98529	0.83755	D	AEFBI	0.844511	0.76147	D	0.374329023459271	0.60035	4.188161	0.514087085182772	0.68935	5.28951	0.999999999890716	0.74766	0.651	0.46895	0	0.546412	0.12157	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	7.279000	0.77969	7.849000	0.70877	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.003	0.80122	882	0.29131	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	499.17	33	chr15	88530840	.	T	C	499.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.938e+00;DP=1723;ExcessHet=1.1607;FS=140.205;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.604;SOR=10.408	GT:AD:DP:GQ:PL	0/1:83,22:105:99:107,0,1926	15	0	5	1
chr15	89333605	89333605	-	TGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCA:p.Q55_P56insQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	1/2:2,26,27,0:55:99:1977,1017,1022,912,0,1289,2023,1121,1198,2280	8	0	10	0
chr15	89333597	89333605	TGCTGCTGC	-	exonic	POLG	.	nonframeshift deletion	POLG:NM_001126131:exon2:c.150_158del:p.Q53_Q55del	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203057	Inborn_genetic_diseases|not_specified|Hereditary_spastic_paraplegia|POLG-related_disorder|Progressive_sclerosing_poliodystrophy|not_provided|Mitochondrial_DNA_depletion_syndrome_4b|Sensory_ataxic_neuropathy,_dysarthria,_and_ophthalmoparesis|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_dominant_1|Progressive_external_ophthalmoplegia_with_mitochondrial_DNA_deletions,_autosomal_recessive_1|Mitochondrial_DNA_depletion_syndrome_1	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:CN180166|MONDO:MONDO:0008758,MedGen:C0205710,OMIM:203700,Orphanet:726|MedGen:C3661900|MONDO:MONDO:0013350,MedGen:C3150914,OMIM:613662,Orphanet:298|MONDO:MONDO:0011835,MedGen:C1843851,OMIM:607459,Orphanet:70595|MONDO:MONDO:0024528,MedGen:C1834846,OMIM:157640|MONDO:MONDO:0009783,MedGen:C4225153,OMIM:258450,Orphanet:254886|MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0022	0.0012	0.0025	0.0006	0.0027	0.0018	0.0033	0.0014683	227	154602	rs756833779	0.0024	0.0024	0.0024	0.0024	0.0035	0.0024	0.0023	0.0026	0.0025	0.0014	0.0014	7.735e-05	0.0020	0.0003	0.0035	0.0026	0.0027	0.0024	0.0021	0.0021	0.0021	0.0021	0.0031	0.0019	0.0019	0.0024	0.0023	0.0015	0	0.0022	0.0003	0.0031	0.0002	0.0034	0.0027	0.0024	0.0031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	1/2:2,26,27,0:55:99:1977,1017,1022,912,0,1289,2023,1121,1198,2280	8	0	10	0
chr15	89333605	89333605	-	TGCTGC	exonic	POLG	.	nonframeshift insertion	POLG:NM_001126131:exon2:c.149_150insGCAGCA:p.Q55_P56insQQ	Mitochondrial DNA depletion syndrome 4A (Alpers type), Autosomal recessive;Mitochondrial DNA depletion syndrome 4B (MNGIE type), Autosomal recessive;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), Autosomal recessive;Progressive external ophthalmoplegia, autosomal dominant 1, Autosomal dominant;Progressive external ophthalmoplegia, autosomal recessive 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	16448.55	79	chr15	89333596	.	TTGCTGCTGC	TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC	16448.55	.	AC=11,1,2;AF=0.262,0.024,0.048;AN=42;BaseQRankSum=0.208;DP=1777;ExcessHet=6.1794;FS=1.163;InbreedingCoeff=-0.2857;MLEAC=11,1,2;MLEAF=0.262,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=18.34;ReadPosRankSum=0.585;SOR=0.826	GT:AD:DP:GQ:PL	1/2:2,26,27,0:55:99:1977,1017,1022,912,0,1289,2023,1121,1198,2280	8	0	10	0
chr15	89648308	89648308	T	C	exonic	KIF7	.	nonsynonymous SNV	KIF7:NM_198525:exon5:c.A1390G:p.I464V,	Acrocallosal syndrome, Autosomal recessive;Joubert syndrome 12, Autosomal recessive	.	7	1506	9	0	0	9	0.00297915	.	.	341485	Acrocallosal_syndrome	MONDO:MONDO:0008708,MedGen:C0796147,OMIM:200990,Orphanet:36	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.043	B	0.021	B	0.000	U	0.998	D	2.005	M	-0.62	T	-0.783	T	0.264	T	0.155	2.998	16.00	3.26	0.541	5.409	9.551	0.139	0.153396277549	.	0.000399361	0.0015	0	0	0	0	0	0	0.0024	0.0001229	19	154602	rs570856269	0.0003	0.0003	0.0002	0.0004	0.0024	0.0003	0.0003	0.0021	0.0020	3.294e-05	0.0001	0	0	0	0.0023	0.0002	0.0004	0.0024	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	8.723e-05	0.0008	0.0006	4.813e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0017	0.313	0.13879	T	0.597	0.08025	T	0.043	0.21573	B	0.021	0.19346	B	0.000004	0.62929	U	0.000000	0.997687	0.44098	D	2.485	0.72352	M	-0.62	0.71895	T	-0.16	0.09460	N	0.203	0.22486	-0.7827	0.56149	T	0.264	0.63534	T	10	0.007978946	0.00181	T	0.153396	0.83467	D	0.139	0.37390	0.12	0.02719	0.682399439722	0.67969	0.24251828648780865	0.24165	0.0606905089599	0.06755	0.889000177383	0.95135	D	0.091074	0.38721	T	-0.383569	0.02957	T	-0.328985	0.41583	T	0.0542463964984042	0.06230	T	0.860314	0.55333	D	0.051097695	0.09334	0.05417529	0.09269	0.051097695	0.09334	0.05417529	0.09268	-1.877	0.02749	T	0.2586999643734568	0.34951	0.242	0.47578	B	.	.	2.701580	0.35291	19.86	0.9945232932422543	0.65325	0.97220	0.73400	D	AEFDBI	0.654661	0.62727	D	-0.243260025261783	0.31372	1.758486	-0.178331256621388	0.32335	1.838589	0.999997242732638	0.74766	0.696267	0.57585	0	0.547309	0.14657	0	0.691665	0.62940	0	0.604944	0.38103	0	.	.	4.39	3.26	0.36471	5.530000	0.66854	1.092000	0.23989	0.643000	0.52288	1.000000	0.71638	1.000000	0.68203	0.857000	0.40602	0.0:0.0853:0.0:0.9147	9.551	0.38475	843	0.36859	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	428.98	36	chr15	89648308	.	T	C	428.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.250e-01;DP=827;ExcessHet=0.0000;FS=3.997;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.53;ReadPosRankSum=1.13;SOR=0.279	GT:AD:DP:GQ:PL	0/1:36,21:57:99:443,0,973	20	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	.	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6667	31349.59	49	chr15	89776903	.	AGGGCAGGGGCAG	*,A	31349.59	.	AC=14,28;AF=0.333,0.667;AN=42;BaseQRankSum=0.794;DP=1383;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=14,28;MLEAF=0.333,0.667;MQ=60.00;MQRankSum=0.00;QD=27.92;ReadPosRankSum=0.595;SOR=0.828	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,56:56:99:1|1:89776888_G_A:2400,2400,2400,169,169,0:89776888	0	0	0	0
chr15	90876318	90876318	C	T	exonic	FURIN	.	nonsynonymous SNV	FURIN:NM_001289823:exon3:c.C241T:p.R81C	.	.	364	1140	17	1	0	19	0.00826446	.	.	2814491	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.989	D	0.586	P	0.051	N	1.000	D	2.785	M	1.45	T	-0.937	T	0.094	T	0.383	3.104	16.37	3.67	1.170	1.792	11.108	0.144	.	0.0023	0.00199681	0.0027	0.0002	0.0043	0	0	0.0040	0.0022	0.0005	0.0025226	390	154602	rs148110342	0.0019	0.0019	0.0018	0.0020	0.0187	0.0018	0.0018	0.0159	0.0148	0.0006	0.0041	0.0440	0.0003	1.883e-05	0.0187	0.0009	0.0046	0.0005	0.0023	0.0023	0.0022	0.0023	0.0059	0.0021	0.0020	0.0050	0.0046	0.0004	0	0.0059	0.0409	0.0002	0	0	0.0011	0.0076	0.0006	0.07	0.46513	T	0.174	0.70582	T	0.989	0.62824	D	0.586	0.50343	P	0.050699	0.23048	N	0.447962	0.999957	0.52396	D	2.535	0.73915	M	1.45	0.32482	T	-2.77	0.85921	D	0.398	0.43899	-0.9372	0.43057	T	0.094	0.35604	T	10	0.00404045	0.00079	T	.	.	.	0.144	0.38394	.	.	0.561097471998	0.55770	0.6000992533537909	0.59940	1.53222317347	0.87605	0.355705976486	0.18759	T	0.548407	0.84664	D	-0.417001	0.01788	T	-0.373875	0.36436	T	0.0450712634716505	0.04615	T	0.756024	0.48387	T	0.397754	0.60576	0.2696546	0.52848	0.397754	0.60577	0.2696546	0.52847	-9.266	0.69394	D	.	.	0.235	0.49078	B	.;.;.;.	.;.;.;.	5.478016	0.91348	32	0.99817111299830841	0.90061	0.81348	0.40770	D	AEFDGBCI	0.461300	0.51112	N	0.12144743292192	0.47464	2.971798	0.0456702509744604	0.41862	2.522201	0.999963247579836	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.58	3.67	0.41236	1.852000	0.38988	3.185000	0.36675	0.599000	0.40250	0.897000	0.31356	1.000000	0.68203	0.996000	0.76049	0.0:0.9142:0.0:0.0858	11.108	0.47436	702	0.57624	Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain;Peptidase S8, pro-domain	.	.	.	.	.	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	0.04762	2059.11	35	chr15	90876318	.	C	T	2059.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.29;DP=824;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.30;ReadPosRankSum=0.765;SOR=0.689	GT:AD:DP:GQ:PL	0/1:34,37:71:99:929,0,901	19	0	2	0
chr15	90889374	90889374	G	A	exonic	FES	.	nonsynonymous SNV	FES:NM_001143783:exon4:c.G563A:p.R188Q	.	.	8	1502	12	0	0	12	0.00397878	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.006	B	0.006	B	0.041	N	0.942	D	1.15	L	0.86	T	-1.081	T	0.074	T	0.139	0.822	8.312	-2.82	-1.000	0.070	7.016	0.030	0.0122615444331	.	0.000399361	0.0003	0	8.663e-05	0	0	0.0003	0.0011	0.0010	0.0002717	42	154602	rs34573430	0.0003	0.0003	0.0002	0.0003	0.0026	0.0002	0.0002	0.0016	0.0013	5.974e-05	0.0004	0	0	0	0.0026	0.0002	0.0004	0.0011	0.0002	0.0002	0.0002	0.0002	0.0007	0.0001	0.0001	0.0004	0.0003	0	0	0.0007	0	0.0002	0	0	0.0002	0.0009	0.0006	0.422	0.11334	T	0.589	0.08245	T	0.006	0.13644	B	0.003	0.12133	B	0.041486	0.23944	N	0.418487	0.840099	0.37354	D	0.125	0.08623	N	0.86	0.46777	T	-0.88	0.24460	N	0.184	0.20925	-1.0806	0.07233	T	0.074	0.29928	T	10	0.017479002	0.00373	T	0.012262	0.30673	T	0.030	0.07022	.	.	0.49741755877	0.49376	0.13702887122163093	0.13626	0.372278190048	0.38720	0.208515256643	0.00750	T	0.131451	0.46095	T	-0.53989	0.00335	T	-0.604639	0.12424	T	0.0154119841968866	0.00345	T	0.831417	0.53103	T	0.077290595	0.17533	0.047511037	0.06858	0.077290595	0.17533	0.047511037	0.06858	-4.651	0.36840	T	.	.	0.055	0.02765	B	.;.;.;.;.	.;.;.;.;.	0.844836	0.12165	8.715	0.83692518797843596	0.14866	0.47475	0.27991	N	AEFGBI	0.162468	0.28864	N	-0.929115688596873	0.10165	0.4844879	-0.88367058828063	0.12480	0.6422223	0.999978248444354	0.50053	0.736574	0.97449	0	0.633656	0.55848	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	4.71	-2.82	0.05442	0.080000	0.14657	-0.065000	0.12373	-0.131000	0.13161	0.951000	0.33123	0.127000	0.22962	0.775000	0.36711	0.5498:0.0:0.3287:0.1215	7.016	0.24066	684	0.59539	F-BAR domain;.;F-BAR domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1358.98	33	chr15	90889374	.	G	A	1358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.39;DP=801;ExcessHet=0.0000;FS=7.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.44;ReadPosRankSum=2.24;SOR=1.596	GT:AD:DP:GQ:PL	0/1:45,43:88:99:1373,0,1103	20	0	1	0
chr16	275869	275974	GCGCCCGGGGGCGGCCGGGGGGCGGCGCGGGGCCGGCGGCCATGGCTGCGGGGCGAGGCCGGCGGGGATGACCGACGTCCCGCCCGGCCCCGCCCCGCGCCGCGCC	-	exonic	RGS11	.	startloss	RGS11:NM_001286485:exon1:c.1_43del:p.M1?	.	.	551	968	3	0	0	3	0.00154719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0006	0.0001	0.0001	0.0006	0.0001	0.0001	0.0003	0.0002	0	0.0003	0.0002	0.0006	0.0016	0	0.0001	0.0001	0.0001	0	6.614e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	59.03	8	chr16	275868	.	TGCGCCCGGGGGCGGCCGGGGGGCGGCGCGGGGCCGGCGGCCATGGCTGCGGGGCGAGGCCGGCGGGGATGACCGACGTCCCGCCCGGCCCCGCCCCGCGCCGCGCC	T	59.03	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=180;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0477;MLEAC=1;MLEAF=0.026;MQ=60.00;MQRankSum=0.00;QD=9.84;ReadPosRankSum=1.04;SOR=0.693	GT:AD:DP:GQ:PL	0/1:4,2:6:72:72,0,162	18	0	1	2
chr16	1211262	1211262	T	G	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon22:c.T4318G:p.F1440V	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	1.9	M	-4.76	D	1.080	D	0.948	D	0.777	4.504	24.2	4.35	1.953	7.607	13.137	0.888	0.314113881904	.	0.000199681	2.499e-05	0.0001	0	0	0	1.513e-05	0	6.057e-05	2.59e-05	4	154602	rs545262024	1.643e-05	1.642e-05	1.771e-05	1.514e-05	2.987e-05	1.111e-05	9.34e-06	1.378e-05	1.151e-05	2.987e-05	0	0	0	0	0	2.069e-05	0	0	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	0	0	0.0002	0.022	0.48642	D	0.0	0.92824	D	0.855	0.47121	P	0.866	0.61580	P	0.000000	0.84330	D	0.000000	0.99998	0.54805	D	1.66	0.42513	L	-4.76	0.98111	D	-6.66	0.92302	D	0.724	0.80083	1.080	0.98868	D	0.948	0.98304	D	10	0.90611583	0.89976	D	0.314114	0.91276	D	0.888	0.96762	.	.	0.959118551356	0.95868	0.8658086642005681	0.86545	.	.	0.893494367599	0.95688	D	0.800465	0.94906	D	0.204162	0.74280	D	0.292156	0.87806	D	0.911507189273834	0.56709	D	0.992501	0.97571	D	0.7517604	0.80970	0.62907887	0.78367	0.7517604	0.80972	0.62907887	0.78368	-16.72	0.98655	D	0.7690140817957412	0.85017	0.840	0.81771	P	.;.;.;.	.;.;.;.	4.306110	0.65784	24.9	0.99115933435182302	0.52854	0.94260	0.60603	D	AEFBHCI	0.915598	0.88061	D	0.509909459228806	0.67673	5.113234	0.48550234536948	0.67029	5.029632	0.998775082659284	0.37645	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.35	4.35	0.51454	7.760000	0.84095	7.871000	0.71963	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.670000	0.33251	0.0:0.0:0.0:1.0	13.137	0.58835	934	0.15400	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1822.98	98	chr16	1211262	.	T	G	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.388e+00;DP=2292;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.429e+00;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,50:131:99:0|1:1211262_T_G:1837,0,3251:1211262	20	0	1	0
chr16	1211263	1211263	T	C	exonic	CACNA1H	.	nonsynonymous SNV	CACNA1H:NM_001005407:exon22:c.T4319C:p.F1440S	Hyperaldosteronism, familial, type IV, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.175	M	-5.04	D	1.085	D	0.973	D	0.885	4.431	23.6	4.35	1.953	7.607	13.137	0.974	0.231500646135	.	0.000199681	2.499e-05	0.0001	0	0	0	1.513e-05	0	6.057e-05	2.59e-05	4	154602	rs559236007	1.643e-05	1.642e-05	1.771e-05	1.514e-05	2.987e-05	1.111e-05	9.34e-06	1.378e-05	1.151e-05	2.987e-05	0	0	0	0	0	2.069e-05	0	0	1.313e-05	1.312e-05	2.569e-05	0	0.0002	2.18e-06	8.2e-07	.	.	2.404e-05	0	0	0	0	0	0	0	0	0.0002	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999974	0.53665	D	3.29	0.90338	M	-5.04	0.98594	D	-7.61	0.95366	D	0.809	0.89465	1.085	0.99049	D	0.973	0.99139	D	10	0.9565741	0.95024	D	0.231501	0.88279	D	0.974	0.99740	.	.	0.982926418448	0.98273	0.9302957194694857	0.93008	.	.	0.897963047028	0.96211	D	0.893473	0.97854	D	0.381863	0.88827	D	0.547412	0.95586	D	0.995326995849609	0.87221	D	0.990738	0.97157	D	0.9695337	0.98217	0.91282314	0.95889	0.9695337	0.98217	0.91282314	0.95890	-19.389	0.99887	D	0.8271413217512921	0.89882	0.973	0.90020	P	.;.;.;.	.;.;.;.	4.674399	0.74743	26.2	0.99863446373677556	0.94184	0.93446	0.58239	D	AEFBHCI	0.916963	0.88391	D	0.75728140112125	0.83379	8.001886	0.650115453188006	0.78620	6.912865	0.998775082659284	0.37645	0.695654	0.57023	0	0.588066	0.40923	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.35	4.35	0.51454	7.760000	0.84095	7.871000	0.71963	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.673000	0.33338	0.0:0.0:0.0:1.0	13.137	0.58835	934	0.15400	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1822.98	98	chr16	1211263	.	T	C	1822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.288e+00;DP=2291;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-1.519e+00;SOR=0.698	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,50:131:99:0|1:1211262_T_G:1837,0,3251:1211262	20	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7188	9454.15	31	chr16	1397277	.	A	*,G	9454.15	.	AC=19,8;AF=0.594,0.250;AN=32;BaseQRankSum=1.91;DP=1633;ExcessHet=0.0731;FS=2.741;InbreedingCoeff=0.3875;MLEAC=24,10;MLEAF=0.750,0.313;MQ=59.56;MQRankSum=-2.830e-01;QD=10.82;ReadPosRankSum=1.63;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,28,0:71:99:.:.:750,0,1444,879,1534,2413	1	6	3	5
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	0/1:43,28,0:71:99:750,0,1444,879,1534,2413	8	6	2	4
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	664.37	55	chr16	1397281	.	G	*,GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	664.37	.	AC=15,1;AF=0.441,0.029;AN=34;DP=1272;ExcessHet=0.0000;FS=6.118;InbreedingCoeff=0.6818;MLEAC=18,1;MLEAF=0.529,0.029;MQ=59.20;QD=1.28;SOR=0.304	GT:AD:DP:GQ:PL	0/1:43,28,0:71:99:750,0,1444,879,1534,2413	8	6	2	4
chr16	1787990	1787990	C	T	exonic	NUBP2	.	nonsynonymous SNV	NUBP2:NM_001284502:exon4:c.C116T:p.T39M	.	.	418	1070	31	3	0	37	0.0169959	.	.	703532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.13	T	0.954	P	0.641	P	0.000	D	1.000	D	-0.04	N	1.57	T	-1.113	T	0.035	T	0.687	1.315	10.31	1.6	0.409	1.551	8.767	0.219	.	0.0051	0.00479233	0.0070	0.0006	0.0030	0	0.0119	0.0098	0.0090	0.0040	0.0065782	1017	154602	rs111886912	0.0063	0.0063	0.0062	0.0064	0.0200	0.0062	0.0061	0.0171	0.0159	0.0009	0.0035	0.0297	5.045e-05	0.0119	0.0200	0.0060	0.0075	0.0040	0.0058	0.0058	0.0059	0.0057	0.0074	0.0055	0.0053	0.0069	0.0067	0.0010	0.0219	0.0038	0.0285	0	0.0109	0.0238	0.0074	0.0085	0.0039	0.119	0.36509	T	0.165	0.38891	T	0.954	0.54400	P	0.641	0.52117	P	0.000107	0.50451	D	0.205980	0.999818	0.49394	D	1.23	0.30720	L	1.57	0.29342	T	-3.38	0.73378	D	0.365	0.40665	-1.1131	0.02817	T	0.035	0.15160	T	10	0.008056521	0.00183	T	.	.	.	0.219	0.51417	.	.	0.374255764437	0.37033	0.6427888404934955	0.64213	0.255294500027	0.28121	0.460974365473	0.33443	T	0.269597	0.64181	T	-0.348624	0.04814	T	-0.265589	0.48265	T	0.0335245615151962	0.02558	T	0.789921	0.54842	T	0.12877081	0.30095	0.18379685	0.41392	0.12877081	0.30095	0.18379685	0.41391	-6.099	0.47100	T	.	.	0.121	0.30397	B	.;.;.;.;.;.	.;.;.;.;.;.	3.459331	0.48208	22.6	0.94265788090476677	0.24550	0.21684	0.21488	N	AEFBCI	0.210690	0.33656	N	-0.417561109504798	0.24853	1.344939	-0.518398049858351	0.21654	1.172412	0.999942891112	0.47345	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.77	1.6	0.22686	1.699000	0.37423	0.847000	0.22099	0.599000	0.40250	0.846000	0.30379	0.304000	0.24236	0.562000	0.30459	0.0:0.7307:0.0:0.2693	8.767	0.33870	565	0.70868	.;.;.;.;.;.	.	.	.	.	rs111886912	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1162.98	41	chr16	1787990	.	C	T	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=1088;ExcessHet=0.0000;FS=3.504;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.29;ReadPosRankSum=-9.590e-01;SOR=1.047	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1177,0,1656	20	0	1	0
chr16	1791852	1791852	G	A	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.C680T:p.A227V	Acid-labile subunit, deficiency of	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.029	B	0.012	B	0.361	N	1.000	N	1.69	L	0.79	T	-0.999	T	0.117	T	0.053	-1.007	0.250	-0.125	0.098	1.455	8.691	0.045	0.0314436652616	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs781119629	1.356e-05	1.505e-05	1.41e-05	1.301e-05	9.4e-05	8.67e-06	6.99e-06	2.49e-05	1.29e-05	9.4e-05	2.735e-05	0	2.769e-05	2.211e-05	0	1.201e-05	0	0	3.285e-05	3.283e-05	5.137e-05	1.345e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.853	0.04685	T	0.572	0.08746	T	0.006	0.13644	B	0.009	0.14300	B	0.361326	0.13665	N	0.658970	1	0.08975	N	0.895	0.22405	L	0.79	0.57100	T	-0.34	0.12661	N	0.051	0.05037	-0.9989	0.30227	T	0.117	0.41142	T	10	0.13679406	0.26025	T	0.031444	0.53528	D	0.045	0.12272	0.619	0.75347	0.665809984262	0.66299	0.3727656668721213	0.37190	0.0521217480594	0.05734	0.470262736082	0.34717	T	0.07172	0.34278	T	-0.315014	0.07313	T	-0.570292	0.15422	T	0.057908358054238	0.06836	T	0.616838	0.23989	T	0.025318872	0.01457	0.040007286	0.04227	0.025318872	0.01457	0.040007286	0.04226	-3.048	0.13164	T	0.16646551966381534	0.20699	0.084	0.14155	B	.;.	.;.	0.216547	0.05992	2.435	0.78141882119553341	0.12173	0.08736	0.14622	N	AEFDBCI	0.130658	0.24930	N	-1.06275298525367	0.07339	0.340627	-1.10890657690106	0.07530	0.3665977	0.996118614039231	0.34533	0.403107	0.06075	0	0.379588	0.06130	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.09	-0.125	0.12859	1.474000	0.35006	1.156000	0.24517	-0.124000	0.13482	0.019000	0.19563	0.000000	0.08366	0.009000	0.08673	0.7845:0.0:0.2155:0.0	8.691	0.33426	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1575.98	34	chr16	1791852	.	G	A	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.78;DP=1044;ExcessHet=0.0000;FS=1.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.08;ReadPosRankSum=-6.570e-01;SOR=0.504	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1590,0,993	20	0	1	0
chr16	1917934	1917934	G	C	exonic	HS3ST6	.	stopgain	HS3ST6:NM_001009606:exon1:c.C390G:p.Y130X,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	D	.	.	.	.	.	.	.	.	.	3.153	16.54	1.64	0.051	0.811	6.269	.	.	0.0002	.	0.0009	0.0015	0	0	0	0.0016	0	0	0.0001552	24	154602	rs200310444	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	3.542e-05	0	0	0	0.0002	0.0002	0.0002	0.0001	0	0.0001	0.0001	0.0001	0.0002	0.0002	9.745e-05	8.259e-05	0.0001	7.896e-05	9.648e-05	0	0.0002	0	0	0.0002	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.202	0.22357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.285985	0.81824	D	0.491094	0.94428	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive|Recessive	Low|High	7.397251	0.96474	36	0.99043578199574722	0.51073	0.84598	0.43681	D	AEFDBCI	0.326640	0.42785	N	0.169124783955715	0.49720	3.169275	-0.0255666206049844	0.38564	2.273822	0.992931240813881	0.33023	0.59774	0.34471	0	0.78372	0.99691	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.93	1.64	0.22949	0.557000	0.23159	0.263000	0.16568	-0.206000	0.08541	0.984000	0.35821	0.940000	0.28757	0.953000	0.50222	0.4511:0.0:0.5489:0.0	6.269	0.20150	631	0.64944	Sulfotransferase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	513.98	36	chr16	1917934	.	G	C	513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.18;ReadPosRankSum=0.505;SOR=0.582	GT:AD:DP:GQ:PL	0/1:32,24:56:99:528,0,696	20	0	1	0
chr16	1974619	1974619	A	G	exonic	TBL3	.	nonsynonymous SNV	TBL3:NM_006453:exon5:c.A319G:p.I107V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.004	B	0.006	B	0.867	N	0.680	D	-0.55	N	.	.	-1.021	T	0.037	T	0.18	0.320	5.734	1.43	0.252	0.768	6.987	0.015	0.0140557278898	0.0005	0.000798722	0.0005	0.0011	0.0003	0.0002	0	0.0002	0.0012	0.0016	0.0004075	63	154602	rs201339393	0.0003	0.0003	0.0002	0.0003	0.0018	0.0003	0.0002	0.0016	0.0015	0.0011	0.0004	3.833e-05	0.0002	0	0.0003	0.0001	0.0002	0.0018	0.0004	0.0004	0.0004	0.0005	0.0014	0.0003	0.0003	0.0007	0.0005	0.0008	0	6.533e-05	0	0.0004	0	0	0.0003	0	0.0014	0.436	0.09374	T	0.471	0.12211	T	0.004	0.12183	B	0.006	0.12133	B	0.866905	0.08853	N	0.946466	0.680201	0.33226	D	0.345	0.11182	N	0.16	0.60610	T	-0.36	0.13035	N	0.264	0.29889	-1.0212	0.23324	T	0.037	0.15986	T	9	0.01903519	0.00420	T	0.014056	0.33919	T	.	.	.	.	0.228597637076	0.22478	0.23548485457498414	0.23463	0.115312825706	0.13006	0.37448912859	0.21473	T	0.009979	0.09046	T	-0.471619	0.00830	T	-0.474852	0.24996	T	0.000412385038613711	0.00003	T	0.710329	0.32115	T	0.015279679	0.00131	0.021277322	0.00185	0.015279679	0.00131	0.021277322	0.00185	-1.648	0.02097	T	.	.	0.068	0.02765	B	.	.	0.612044	0.09802	6.570	0.78420310926716463	0.12293	0.12719	0.17439	N	AEFBI	0.093857	0.18985	N	-0.908816281933772	0.10635	0.5091508	-0.804046066239606	0.14397	0.7520729	0.989824819355817	0.31946	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.97	1.43	0.21585	1.058000	0.30114	-0.098000	0.11976	-0.045000	0.17359	0.348000	0.25742	0.000000	0.08366	0.504000	0.29107	0.4915:0.0:0.5085:0.0	6.987	0.23915	707	0.57054	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1518.98	91	chr16	1974619	.	A	G	1518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.960e-01;DP=1352;ExcessHet=0.0000;FS=1.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=0.509;SOR=0.949	GT:AD:DP:GQ:PL	0/1:51,51:102:99:1533,0,1483	20	0	1	0
chr16	1978378	1978378	G	A	exonic	TBL3	.	nonsynonymous SNV	TBL3:NM_006453:exon21:c.G2200A:p.V734M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.996	D	0.000	D	1.000	D	2.7	M	.	.	0.169	D	0.534	D	0.628	4.254	22.2	5.13	2.376	4.921	17.550	0.664	0.0989280023845	0.0002	.	5.082e-05	0.0001	0	0	0	7.75e-05	0	0	5.82e-05	9	154602	rs368909625	2.878e-05	2.942e-05	3.41e-05	2.342e-05	4.48e-05	2.155e-05	1.911e-05	2.118e-05	1.863e-05	2.991e-05	4.48e-05	0	2.522e-05	0	0	2.97e-05	4.974e-05	2.321e-05	3.941e-05	3.939e-05	5.137e-05	2.689e-05	7.236e-05	1.715e-05	1.129e-05	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	4.41e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000004	0.62929	D	0.061397	1	0.81001	D	2.45	0.71042	M	-0.28	0.67543	T	-2.5	0.54382	D	0.364	0.40565	0.169	0.85375	D	0.534	0.82738	D	9	0.44130212	0.58118	T	0.098928	0.77023	D	.	.	.	.	0.682271003597	0.67956	0.7128913380275852	0.71231	0.577109580305	0.53651	0.799692034721	0.81916	T	0.251465	0.62172	T	-0.0125651	0.49905	T	-0.0736785	0.65362	T	0.430440098047256	0.30077	T	0.933407	0.75038	D	0.6478878	0.75251	0.6444669	0.79217	0.6478878	0.75252	0.6444669	0.79218	-7.171	0.55273	T	.	.	0.283	0.51600	B	.	.	5.057571	0.84280	28.3	0.99890601363800702	0.96513	0.98658	0.85234	D	AEFDBI	0.734914	0.68090	D	0.69566313470986	0.79348	7.058778	0.609479545699865	0.75628	6.344203	0.999999999995402	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	6.015000	0.70444	8.433000	0.77176	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.582000	0.30943	0.0:0.0:1.0:0.0	17.550	0.87771	730	0.54327	Small-subunit processome, Utp13	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2063.98	34	chr16	1978378	.	G	A	2063.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.15;DP=924;ExcessHet=0.0000;FS=7.113;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.79;ReadPosRankSum=1.27;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,56:116:99:0|1:1978378_G_A:2078,0,2077:1978378	20	0	1	0
chr16	1999881	1999881	G	0	exonic	ZNF598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	12579.4	40	chr16	1999881	.	G	GTCC,*	12579.4	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=0.849;DP=1110;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.7375;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=32.09;ReadPosRankSum=0.776;SOR=0.718	GT:AD:DP:GQ:PL	0/1:25,29,0:54:99:1142,0,950,1218,1038,2255	15	3	2	0
chr16	3256323	3256323	C	T	exonic	MEFV	.	nonsynonymous SNV	MEFV:NM_000243:exon1:c.G265A:p.A89T	Familial Mediterranean fever, AD, Autosomal dominant;Familial Mediterranean fever, AR, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	103405	Familial_Mediterranean_fever|Familial_Mediterranean_fever,_autosomal_dominant|Acute_febrile_neutrophilic_dermatosis|not_specified	MONDO:MONDO:0018088,MedGen:C0031069,OMIM:249100,Orphanet:342|MONDO:MONDO:0007601,MedGen:C1851347,OMIM:134610,Orphanet:342|MONDO:MONDO:0011959,MedGen:C0085077,OMIM:608068,Orphanet:3243|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.995	D	0.862	P	0.462	N	1.000	N	2.095	M	0.38	T	-0.838	T	0.260	T	0.728	3.683	18.71	4.03	0.861	0.952	7.667	0.327	0.04338119536	.	.	.	.	.	.	.	.	.	.	1.29e-05	2	154602	rs104895124	9.579e-06	9.577e-06	1.089e-05	8.253e-06	8.963e-05	5.56e-06	4.35e-06	2.985e-05	1.804e-05	8.963e-05	8.946e-05	0	0	0	0	5.396e-06	1.656e-05	0	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	2.412e-05	0	0.0001	0	0	0	0	0	0	0	0.004	0.65419	D	0.01	0.65728	D	0.995	0.67487	D	0.862	0.61339	P	0.462479	0.12374	N	0.718553	1	0.08975	N	1.83	0.48079	L	0.38	0.57575	T	-1.99	0.46673	N	0.135	0.13198	-0.8378	0.52793	T	0.260	0.63055	T	10	0.24416816	0.41643	T	0.043381	0.60956	D	0.327	0.64926	0.716	0.85141	0.776258990654	0.77419	0.25332777736357565	0.25246	0.209460660438	0.23414	0.275433540344	0.06864	T	0.332551	0.70250	T	-0.0862495	0.38694	T	-0.1789	0.56625	T	0.119044836646206	0.14336	T	0.853215	0.53849	D	0.12759422	0.29854	0.13456117	0.32240	0.119756326	0.28191	0.13795117	0.32959	-7.669	0.59906	D	.	.	0.121	0.39168	B	.;.;.;.	.;.;.;.	2.592526	0.33630	19.40	0.99839871169604388	0.92057	0.06162	0.12144	N	AEFDGBI	0.119344	0.23296	N	-0.0448386388082951	0.39833	2.355527	-0.228680098778615	0.30512	1.718682	0.999994666492279	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.98	4.03	0.46115	0.556000	0.23144	.	.	0.549000	0.26987	0.001000	0.13787	0.829000	0.27196	0.088000	0.17685	0.1625:0.7553:0.0:0.0821	7.667	0.27603	769	0.49307	DAPIN domain;DAPIN domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	786.98	33	chr16	3256323	.	C	T	786.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.577e+00;DP=756;ExcessHet=0.0000;FS=1.332;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.13;ReadPosRankSum=-1.139e+00;SOR=0.477	GT:AD:DP:GQ:PL	0/1:24,28:52:99:801,0,748	20	0	1	0
chr16	3767747	3767747	T	C	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon15:c.A3109G:p.T1037A	Rubinstein-Taybi syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1916696	Rubinstein-Taybi_syndrome	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.59	T	0.0	B	0.002	B	0.000	N	1.000	D	0.895	L	2.22	T	-1.062	T	0.028	T	0.157	1.364	10.49	4.47	1.007	0.597	10.787	0.141	0.00191989998525	.	.	1.647e-05	0	0	0	0	1.498e-05	0	6.056e-05	1.29e-05	2	154602	rs774615320	8.893e-06	8.893e-06	4.084e-06	1.375e-05	0.0002	4.96e-06	3.82e-06	4.55e-06	3.32e-06	0	2.236e-05	0	0	0	0.0002	8.993e-06	0	1.159e-05	1.97e-05	1.97e-05	2.568e-05	1.344e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.659	0.04817	T	0.829	0.04930	T	0.0	0.02946	B	0.002	0.06944	B	0.000016	0.62929	N	0.069968	0.999804	0.49283	D	0.69	0.16971	N	2.22	0.18248	T	-1.27	0.31981	N	0.123	0.12484	-1.0623	0.11190	T	0.028	0.12190	T	10	0.062888086	0.08110	T	0.00192	0.03404	T	0.141	0.37795	0.113	0.02240	0.255117706274	0.25116	0.19473161259116528	0.19391	0.0526653030617	0.05800	0.423468589783	0.28314	T	0.47238	0.80468	T	-0.315157	0.07302	T	-0.593624	0.13354	T	0.025541351612379	0.01344	T	0.70443	0.33902	T	0.052435014	0.09778	0.06417583	0.12823	0.052435014	0.09777	0.06417583	0.12823	-3.239	0.12963	T	0.1432735765854394	0.16274	0.067	0.02548	B	.;.;.	.;.;.	1.739475	0.22138	15.50	0.7866595757555136	0.12399	0.67026	0.33284	D	AEFDGBI	0.107708	0.21451	N	-0.572302807897003	0.19789	1.038482	-0.436983399686465	0.23919	1.307052	0.9999992570971	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.61	4.47	0.53770	1.067000	0.30227	.	.	0.665000	0.62972	0.820000	0.29989	0.713000	0.26304	0.555000	0.30293	0.0:0.0808:0.0:0.9192	10.787	0.45614	675	0.60470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	951.98	34	chr16	3767747	.	T	C	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=768;ExcessHet=0.0000;FS=2.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.206;SOR=1.006	GT:AD:DP:GQ:PL	0/1:42,37:79:99:966,0,1066	20	0	1	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I	Rubinstein-Taybi syndrome 1, Autosomal dominant	YES	1	1445	71	5	0	81	0.0272635	.	.	100926	Inborn_genetic_diseases|not_specified|Rubinstein-Taybi_syndrome|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.17	T	0.604	P	0.369	B	0.000	D	1.000	D	1.28	L	-1.75	D	-0.226	T	0.400	T	0.54	2.237	13.44	5.49	2.578	5.707	19.361	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	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	0.119	9875.44	33	chr16	3781229	.	G	T	9875.44	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-6.200e-01;DP=1574;ExcessHet=1.1607;FS=1.168;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=0.238;SOR=0.839	GT:AD:DP:GQ:PL	0/1:102,67:169:99:1707,0,2657	16	0	5	0
chr16	4580090	4580090	G	A	exonic	C16orf96	.	nonsynonymous SNV	C16orf96:NM_001145011:exon7:c.G2317A:p.V773M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.99	D	0.891	P	.	.	1.000	N	0.695	N	.	.	-1.026	T	0.087	T	0.131	1.075	9.390	-2.01	-0.105	0.648	3.443	0.110	0.0177319553493	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312248447	8.623e-06	1.231e-05	1.276e-05	4.373e-06	2.87e-05	4.6e-06	3.63e-06	5.49e-06	4.01e-06	0	2.87e-05	0	0	0	0	1.023e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.005	0.72224	D	0.99	0.63424	D	0.891	0.63213	P	.	.	.	.	1	0.08975	N	1.39	0.34934	L	.	.	.	-2.13	0.48354	N	0.241	0.27197	-1.0257	0.21853	T	0.087	0.33857	T	8	0.24020585	0.41175	T	0.017732	0.39542	T	0.110	0.31079	0.445	0.50302	0.0884992946249	0.08302	0.05358933337534417	0.05300	.	.	.	.	.	0.007919	0.07293	T	-0.183166	0.23265	T	-0.500882	0.22255	T	0.402477952723891	0.29035	T	0.569643	0.20265	T	0.12915812	0.30174	0.19129515	0.42580	0.12915812	0.30174	0.19129515	0.42579	-4.732	0.33789	T	.	.	0.214	0.44345	B	.	.	2.252787	0.28777	17.91	0.99509103460907877	0.68499	0.08783	0.14661	N	AEFDBCI	0.038940	0.05584	N	-0.448151957618866	0.23802	1.280839	-0.669254449793727	0.17731	0.9441196	0.360255180288532	0.19770	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.09	-2.01	0.07003	0.779000	0.26407	1.456000	0.26643	0.676000	0.76740	0.622000	0.27931	0.875000	0.27637	0.029000	0.12982	0.4328:0.0:0.3871:0.1801	3.443	0.07041	527	0.73864	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	731.98	34	chr16	4580090	.	G	A	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.263;DP=746;ExcessHet=0.0000;FS=3.855;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-5.180e-01;SOR=0.699	GT:AD:DP:GQ:PL	0/1:24,29:53:99:746,0,594	20	0	1	0
chr16	5056092	5056092	C	T	exonic	C16orf89	.	nonsynonymous SNV	C16orf89:NM_001098514:exon5:c.G724A:p.G242R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.952	P	0.207	B	0.103	N	1.000	N	2.395	M	1.62	T	-0.978	T	0.073	T	0.327	1.197	9.863	3.59	0.648	0.824	8.474	0.086	0.015771741154	.	.	8.312e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs762467164	1.107e-05	1.368e-05	8.214e-06	1.399e-05	0.0003	6.55e-06	5.3e-06	7.316e-05	5.183e-05	3.011e-05	0.0002	0	0	1.877e-05	0.0003	2.732e-06	1.68e-05	1.164e-05	2.635e-05	2.628e-05	5.147e-05	0	4.84e-05	8.16e-06	5.15e-06	8.02e-06	3e-06	4.84e-05	0	0	0	0	0	0	2.942e-05	0	0	0.085	0.34095	T	0.0	0.92824	D	0.952	0.54136	P	0.207	0.37187	B	0.103236	0.19757	N	0.508539	0.999996	0.08975	N	1.42	0.35681	L	1.62	0.28189	T	-1.91	0.67359	N	0.536	0.56403	-0.9783	0.35390	T	0.073	0.29707	T	10	0.17174757	0.31910	T	0.015772	0.36685	T	0.086	0.25016	0.572	0.69564	0.168933306366	0.16529	0.49247198138442577	0.49168	0.0166539451348	0.01611	.	.	.	0.108895	0.42231	T	-0.353127	0.04534	T	-0.489973	0.23395	T	0.0508599542081356	0.05651	T	0.721228	0.33447	T	0.082004786	0.18871	0.123254605	0.29723	0.082004786	0.18870	0.123254605	0.29722	-3.027	0.26534	T	.	.	0.183	0.45347	B	.;.;.	.;.;.	1.533671	0.19678	14.38	0.98234700063615343	0.39423	0.11048	0.16372	N	AEFBCI	0.083730	0.16964	N	-0.271563095568715	0.30250	1.685019	-0.402897007390751	0.24911	1.366893	0.00245837160389125	0.09445	0.656854	0.48797	0	0.615948	0.52940	0	0.67347	0.61138	0	0.620846	0.47308	0	.	.	5.72	3.59	0.40253	0.781000	0.26435	0.014000	0.13486	0.549000	0.26987	0.053000	0.21524	0.000000	0.08366	0.006000	0.07323	0.0:0.8072:0.0:0.1928	8.474	0.32162	856	0.34373	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1288.98	44	chr16	5056092	.	C	T	1288.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.46;DP=1135;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.41;ReadPosRankSum=-2.310e-01;SOR=0.613	GT:AD:DP:GQ:PL	0/1:26,44:70:99:1303,0,618	20	0	1	0
chr16	11915680	11915682	CCG	-	exonic	GSPT1	.	nonframeshift deletion	GSPT1:NM_001130006:exon1:c.39_41del:p.G16del	.	.	8	113	9	2	94	107	0.0543933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/3:23,0,0,9,0:32:99:277,346,1281,346,1281,1281,0,934,934,906,346,1281,1281,934,1281	7	0	1	0
chr16	11915682	11915682	-	CCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGG:p.G16_S17insG	.	.	296	676	315	99	136	649	0.275067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/3:23,0,0,9,0:32:99:277,346,1281,346,1281,1281,0,934,934,906,346,1281,1281,934,1281	7	0	1	0
chr16	11915682	11915682	-	CCGCCGCCGCCG	exonic	GSPT1	.	nonframeshift insertion	GSPT1:NM_001130006:exon1:c.38_39insCGGCGGCGGCGG:p.G16_S17insGGGG	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	4985.65	21	chr16	11915673	.	CCCGCCGCCG	CCCGCCG,CCCGCCGCCGCCG,C,CCCGCCGCCGCCGCCGCCGCCG	4985.65	.	AC=1,12,2,1;AF=0.024,0.286,0.048,0.024;AN=42;BaseQRankSum=0.336;DP=705;ExcessHet=4.5793;FS=0.826;InbreedingCoeff=-0.2115;MLEAC=1,12,2,1;MLEAF=0.024,0.286,0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=13.97;ReadPosRankSum=0.494;SOR=0.743	GT:AD:DP:GQ:PL	0/3:23,0,0,9,0:32:99:277,346,1281,346,1281,1281,0,934,934,906,346,1281,1281,934,1281	7	0	1	0
chr16	11927475	11927475	G	0	exonic	NPIPB2	.	.	.	.	.	1	10	87	120	8	335	0.942363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	95489.43	192	chr16	11927475	.	G	A,*	95489.43	.	AC=30,4;AF=0.714,0.095;AN=42;BaseQRankSum=1.26;DP=4093;ExcessHet=0.0303;FS=0.000;InbreedingCoeff=0.3824;MLEAC=30,4;MLEAF=0.714,0.095;MQ=59.99;MQRankSum=0.00;QD=24.53;ReadPosRankSum=0.415;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,235,0:235:99:.:.:7215,704,0,7215,704,7215	2	11	4	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.275	M	1.91	T	-0.639	T	0.257	T	0.982	2.967	15.89	0.019	-0.196	0.232	11.520	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	.;.;.;.	.	.	.	.	.	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	0.4762	4257.38	166	chr16	14582206	.	G	C	4257.38	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-2.582e+00;DP=3785;ExcessHet=43.6797;FS=424.104;InbreedingCoeff=-0.9074;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=1.35;ReadPosRankSum=1.10;SOR=14.488	GT:AD:DP:GQ:PL	0/1:113,87:200:99:411,0,1710	1	0	20	0
chr16	14997798	14997798	G	C	exonic	PDXDC1	.	nonsynonymous SNV	PDXDC1:NM_001285444:exon2:c.G67C:p.A23P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.935	M	1.55	T	-0.523	T	0.255	T	0.973	5.075	31	5.33	2.641	8.353	18.361	0.354	0.067963485199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.63226	D	0.008	0.92824	D	1.0	0.90584	D	0.996	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.16	0.60381	M	1.04	0.60361	T	-1.88	0.82341	N	0.935	0.97426	-0.5232	0.67796	T	0.255	0.62530	T	10	0.64544713	0.69299	D	0.067963	0.70316	D	0.354	0.67510	0.34	0.33141	0.865500260314	0.86419	0.6519858534018849	0.65134	0.57903224905	0.53792	0.687091588974	0.65288	T	0.065263	0.34349	T	0.322682	0.84662	D	0.225734	0.84462	D	0.897844910621643	0.54983	D	0.979842	0.93127	D	0.6403191	0.74848	0.678287	0.81103	0.6403191	0.74849	0.678287	0.81104	-17.098	0.98992	D	.	.	0.952	0.88246	P	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.375527	0.90107	31	0.99782828988776839	0.86955	0.98925	0.88709	D	AEFDBI	0.958152	0.97777	D	0.834563800086936	0.88211	9.494324	0.819355199910117	0.91107	10.721	0.999998829870302	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.33	5.33	0.75683	8.479000	0.90273	11.801000	0.96654	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	18.361	0.90320	675	0.60470	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	172.98	44	chr16	14997798	.	G	C	172.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.855e+00;DP=1460;ExcessHet=0.0000;FS=73.791;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.53;MQRankSum=-1.091e+00;QD=1.54;ReadPosRankSum=1.52;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,24:112:99:0|1:14997798_G_C:187,0,2767:14997798	20	0	1	0
chr16	15715019	15715019	C	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon40:c.G5676C:p.E1892D	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	0	1497	25	0	0	25	0.00828089	.	.	142061	Aortic_aneurysm,_familial_thoracic_4|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|not_provided|not_specified	MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.884	P	0.766	P	0.000	D	1.000	D	3.18	M	-1.21	T	0.037	D	0.494	T	0.479	3.803	19.31	1.09	0.401	2.567	9.194	0.562	.	0.0052	0.00339457	0.0051	0.0013	0.0079	0	0.0062	0.0065	0.0055	0.0025	0.0051681	799	154602	rs113964173	0.0057	0.0057	0.0057	0.0057	0.0163	0.0056	0.0055	0.0136	0.0126	0.0021	0.0069	0.0054	2.519e-05	0.0059	0.0163	0.0061	0.0068	0.0027	0.0050	0.0050	0.0051	0.0049	0.0079	0.0047	0.0046	0.0068	0.0063	0.0024	0.0011	0.0079	0.0061	0.0002	0.0061	0.0306	0.0061	0.0090	0.0017	0.002	0.72154	D	0.035	0.52389	D	0.884	0.48618	P	0.766	0.56676	P	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	3.245	0.89746	M	-1.21	0.78645	T	-2.65	0.57110	D	0.656	0.67564	0.037	0.82994	D	0.494	0.80811	T	10	0.013423175	0.00285	T	.	.	.	0.562	0.82061	0.385	0.40460	0.836330520374	0.83477	0.3254021080093631	0.32453	0.679322545901	0.59932	0.713986098766	0.69171	T	0.700237	0.91362	D	-0.229723	0.16685	T	-0.0970664	0.63625	T	0.0381361471002338	0.03355	T	0.948505	0.80194	D	0.6787482	0.76902	0.6146772	0.77573	0.69713414	0.77901	0.551593	0.74072	-7.906	0.60428	D	.	.	0.372	0.62152	A	.;.;.;.	.;.;.;.	3.755913	0.53860	23.4	0.99839129645069391	0.91972	0.91549	0.53762	D	AEFDBCI	0.719763	0.67054	D	0.380813121273696	0.60382	4.226598	0.274670842489353	0.54065	3.572653	0.280145057627384	0.18980	0.700653	0.57754	0	0.572659	0.20510	0	0.717052	0.78885	0	0.613276	0.41899	0	.	.	4.76	1.09	0.19517	2.622000	0.46092	0.203000	0.15874	0.587000	0.30956	1.000000	0.71638	0.970000	0.29701	0.995000	0.73285	0.0:0.6481:0.0:0.3519	9.194	0.36379	308	0.87611	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	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	0.04762	3905.11	33	chr16	15715019	.	C	G	3905.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-4.010e-01;DP=989;ExcessHet=0.1072;FS=0.404;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=1.99;SOR=0.744	GT:AD:DP:GQ:PL	0/1:77,87:164:99:2212,0,1909	19	0	2	0
chr16	15735567	15735567	T	G	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon26:c.A3305C:p.E1102A	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.854	P	0.85	P	0.000	D	1.000	D	2.77	M	-1.71	D	0.576	D	0.713	D	0.863	4.352	22.9	5.51	2.096	7.920	14.811	0.893	0.554615026186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.854	0.47077	P	0.85	0.60657	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.615	0.93875	H	-1.71	0.83157	D	-5.26	0.84105	D	0.879	0.90251	0.576	0.91584	D	0.713	0.90152	D	10	0.96654606	0.96149	D	0.554615	0.95908	D	0.893	0.96947	0.748	0.87905	0.935783518842	0.93511	0.5909038103433304	0.59020	0.30277208736	0.32603	0.629984378815	0.57143	T	0.771245	0.93879	D	0.387949	0.89205	D	0.319485	0.89069	D	0.993772685527802	0.84717	D	0.986551	0.95418	D	0.6890625	0.77461	0.68235976	0.81330	0.6890625	0.77462	0.68235976	0.81331	-12.212	0.89289	D	.	.	0.584	0.68231	P	.;.;.;.	.;.;.;.	4.614248	0.73203	26.0	0.99565648882211744	0.72075	0.98108	0.79665	D	AEFDBI	0.903394	0.85242	D	0.649877963238467	0.76361	6.47226	0.600348291796797	0.74966	6.22779	0.999998792885949	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	7.891000	0.85843	7.803000	0.69204	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:0.0:0.0:1.0	14.811	0.69624	330	0.86467	.;.;Myosin tail;Myosin tail	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1053.98	37	chr16	15735567	.	T	G	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=784;ExcessHet=0.0000;FS=0.889;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.34;ReadPosRankSum=1.31;SOR=0.560	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1068,0,1009	20	0	1	0
chr16	19517123	19517123	A	T	exonic	GDE1	.	nonsynonymous SNV	GDE1:NM_001324067:exon2:c.T328A:p.L110I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.997	D	0.936	D	0.000	D	1.000	D	1.615	L	2.74	T	-1.010	T	0.046	T	0.59	4.128	21.3	-1.43	-0.170	2.547	5.955	0.164	0.0107725703373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	0.17940	T	0.394	0.16134	T	0.997	0.70673	D	0.936	0.67150	D	0.000023	0.55875	D	0.072360	0.999967	0.52935	D	1.795	0.47270	L	2.74	0.11730	T	-0.82	0.22508	N	0.65	0.66101	-1.0103	0.26823	T	0.046	0.19599	T	10	0.2042628	0.36611	T	0.010773	0.27684	T	0.164	0.42212	0.423	0.46693	0.243398259712	0.23965	0.5995511248690478	0.59886	0.576595669061	0.53609	0.588236689568	0.51246	T	0.046361	0.27401	T	-0.116669	0.33668	T	-0.405363	0.32762	T	0.73680567741394	0.42567	D	0.993001	0.97720	D	0.07589895	0.17130	0.08683221	0.20142	0.07589895	0.17130	0.08683221	0.20142	-5.912	0.45537	T	.	.	0.162	0.42022	B	.;.	.;.	2.610663	0.33905	19.48	0.99279897941227757	0.57869	0.87761	0.47411	D	AEGBI	0.122306	0.23738	N	0.0990174825626285	0.46416	2.882328	0.0325277652112002	0.41236	2.473956	0.999940314522624	0.47345	0.706548	0.73137	0	0.581341	0.33841	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	-1.43	0.08418	2.592000	0.45836	0.643000	0.20338	0.756000	0.94297	1.000000	0.71638	0.911000	0.28135	0.998000	0.85391	0.3679:0.0:0.4891:0.143	5.955	0.18506	464	0.78488	Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase domain;Glycerophosphodiester phosphodiesterase domain|Glycerophosphodiester phosphodiesterase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2267.98	33	chr16	19517123	.	A	T	2267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=913;ExcessHet=0.0000;FS=2.380;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.70;ReadPosRankSum=-7.070e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/1:121,91:212:99:2282,0,2942	20	0	1	0
chr16	21800816	21800816	C	A	exonic	RRN3	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.581e-06	3.689e-06	3.504e-06	1.69e-06	2.546e-05	6.9e-07	1.9e-07	4.23e-06	1.58e-06	0	0	0	0	0	0	1.185e-06	0	2.546e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	191.33	34	chr16	21800816	.	C	A	191.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.030e+00;DP=654;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=59.09;MQRankSum=0.965;QD=8.32;ReadPosRankSum=-8.070e-01;SOR=0.917	GT:AD:DP:GQ:PL	0/1:13,10:23:99:205,0,364	19	0	1	1
chr16	28111909	28111909	T	C	exonic	XPO6	.	nonsynonymous SNV	XPO6:NM_015171:exon17:c.A2249G:p.N750S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.006	B	0.003	B	0.000	D	0.996	D	0.55	N	-0.21	T	-0.988	T	0.148	T	0.01	2.195	13.30	4.68	1.032	3.157	9.826	0.113	0.010587599031	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.447	0.09101	T	0.381	0.15939	T	0.006	0.13644	B	0.003	0.08700	B	0.000005	0.62929	D	0.141686	0.995897	0.42910	D	-0.235	0.03917	N	-0.21	0.66294	T	-1.08	0.28084	N	0.102	0.08506	-0.9884	0.33002	T	0.148	0.47344	T	10	0.16549525	0.30931	T	0.010588	0.27302	T	0.113	0.31778	0.214	0.13354	0.082315109003	0.07666	0.25527248153738064	0.25441	0.515292743488	0.49441	0.464087545872	0.33871	T	0.031936	0.22263	T	-0.236662	0.15778	T	-0.577725	0.14748	T	0.528940320014954	0.33695	D	0.879712	0.59601	D	0.051574606	0.09493	0.06739872	0.13937	0.051574606	0.09492	0.06739872	0.13936	-2.074	0.03580	T	.	.	0.068	0.02861	B	.;.	.;.	2.276367	0.29103	18.01	0.98644919289228383	0.44110	0.95001	0.63078	D	AEFBI	0.251710	0.37153	N	-0.278291162022386	0.29989	1.667992	-0.0683140560240101	0.36708	2.13976	0.993497943498532	0.33238	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.77	4.68	0.58319	3.152000	0.50375	2.786000	0.34766	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0806:0.0:0.9194	9.826	0.40078	530	0.73653	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1664.98	39	chr16	28111909	.	T	C	1664.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=857;ExcessHet=0.0000;FS=3.534;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.00;ReadPosRankSum=-3.680e-01;SOR=1.031	GT:AD:DP:GQ:PL	0/1:49,62:111:99:1679,0,1005	20	0	1	0
chr16	29485007	29485007	A	G	exonic	NPIPB12	.	nonsynonymous SNV	NPIPB12:NM_001355401:exon8:c.T1469C:p.L490P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	.	.	.	.	.	.	1.000	N	.	.	2.02	T	-1.018	T	0.046	T	0.418	-1.092	0.151	.	.	.	.	0.122	0.0257258266066	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs200181489	0.0129	0.0041	0.0122	0.0136	0.0205	0.0124	0.0122	0.0146	0.0143	0.0018	0.0062	0.0144	0.0007	0.0169	0.0205	0.0152	0.0135	0.0123	0.0047	0.0059	0.0088	0	0.0086	0	0	.	.	0	0	0	0	0	0	.	0.0086	0	.	0.142	0.25457	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	2.02	0.21119	T	1.23	0.01037	N	.	.	-1.0179	0.24398	T	0.046	0.19640	T	3	0.18567869	0.33999	T	0.025726	0.48684	D	0.122	0.33800	0.597	0.72739	0.520373764981	0.51680	.	.	.	.	.	.	.	.	.	.	-0.211249	0.19203	T	-0.541221	0.18177	T	0.0386150503690589	0.03441	T	0.512749	0.16428	T	.	.	.	.	.	.	.	.	2.421	0.00035	T	.	.	0.064	0.01600	B	.	.	0.386430	0.07583	4.238	0.2718372158264844	0.01337	0.00110	0.00700	N	AEFI	0.066009	0.12904	N	-0.19305386976	0.33423	1.896032	-0.322771506560789	0.27365	1.51793	1.09648973830877E-6	0.01202	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	.	.	.	-1.504000	0.02379	-12.010000	0.00557	-1.386000	0.01155	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	749	0.51929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	140.71	31	chr16	29485007	.	A	G	140.71	.	AC=1;AF=0.050;AN=20;BaseQRankSum=-1.981e+00;DP=31;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1922;MLEAC=2;MLEAF=0.100;MQ=39.21;MQRankSum=-7.120e-01;QD=20.10;ReadPosRankSum=-1.068e+00;SOR=1.609	GT:AD:DP:GQ:PL	0/1:2,5:7:62:145,0,62	9	0	1	11
chr16	30585446	30585446	C	T	exonic	ZNF785	.	nonsynonymous SNV	ZNF785:NM_152458:exon1:c.G166A:p.D56N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.975	D	0.84	P	.	.	1.000	N	2.215	M	4.27	T	-0.999	T	0.124	T	0.179	2.088	12.94	3.54	1.116	0.145	8.258	0.049	0.00696360609539	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226183413	6.899e-07	6.84e-07	0	1.389e-06	9.035e-07	0	0	.	.	0	0	0	0	0	0	9.035e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.49613	D	0.007	0.79402	D	0.969	0.58077	D	0.752	0.60170	P	.	.	.	.	1	0.08975	N	1.77	0.45869	L	4.27	0.02513	T	-3.45	0.70553	D	0.363	0.40465	-0.9989	0.30227	T	0.124	0.42673	T	9	0.2841559	0.45997	T	0.006964	0.18430	T	0.049	0.13647	0.692	0.82938	0.104622674875	0.10061	0.30478236628952116	0.30391	1.26348763198	0.82096	0.516074180603	0.41074	T	0.034928	0.23517	T	-0.238221	0.15576	T	-0.579964	0.14547	T	0.951933145523071	0.63675	D	0.553645	0.54589	T	0.24069755	0.46976	0.3105039	0.57060	0.24069755	0.46976	0.3105039	0.57060	-8.573	0.64911	D	.	.	0.771	0.76474	P	.;.;.	.;.;.	2.629479	0.34189	19.56	0.99433937094283142	0.64423	0.04824	0.10550	N	ALL	0.053132	0.09546	N	-0.571316381076025	0.19820	1.04033	-0.625030346454832	0.18851	1.008863	0.999999435330717	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.48	3.54	0.39650	-0.000000	0.12910	0.143000	0.15197	0.545000	0.25583	0.000000	0.06391	0.000000	0.08366	0.099000	0.18236	0.0:0.8925:0.0:0.1075	8.258	0.30931	175	0.93230	.;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2388.98	33	chr16	30585446	.	C	T	2388.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=894;ExcessHet=0.0000;FS=4.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.100e-01;SOR=0.808	GT:AD:DP:GQ:PL	0/1:89,97:186:99:2403,0,2111	20	0	1	0
chr16	50104942	50104942	C	A	exonic	HEATR3	.	nonsynonymous SNV	HEATR3:NM_001329731:exon14:c.C1231A:p.R411S	.	.	430	1086	5	1	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.99	D	0.839	P	0.000	D	1.000	D	2.075	M	0.51	T	-0.541	T	0.276	T	0.918	3.953	20.2	4.91	1.442	2.909	14.673	0.379	0.037376444487	.	0.000599042	0.0016	0.0005	0.0041	0	0	0.0020	0.0022	0.0002	0.0014101	218	154602	rs141326733	0.0012	0.0012	0.0012	0.0012	0.0094	0.0012	0.0011	0.0073	0.0066	0.0009	0.0028	0.0131	0	7.545e-05	0.0094	0.0009	0.0028	0.0006	0.0010	0.0010	0.0011	0.0009	0.0020	0.0009	0.0008	0.0014	0.0012	0.0003	0.0033	0.0020	0.0138	0	0	0.0068	0.0009	0.0019	0.0002	0.007	0.59928	D	0.008	0.67890	D	0.989	0.62824	D	0.628	0.51677	P	0.000003	0.62929	D	0.063337	0.999997	0.58761	D	2.515	0.73286	M	0.51	0.55439	T	-3.74	0.71042	D	0.805	0.80083	-0.5413	0.67114	T	0.276	0.64794	T	10	0.02362606	0.00624	T	0.037376	0.57578	D	0.379	0.69696	.	.	0.784680639128	0.78268	0.5182827558583151	0.51751	0.458982957277	0.45497	0.462295114994	0.33625	T	0.209527	0.56977	T	-0.055587	0.43593	T	0.14245	0.79703	D	0.039831722697667	0.03660	T	0.90351	0.66162	D	0.5611216	0.70572	0.4589754	0.68568	0.5611216	0.70573	0.4589754	0.68569	-7.734	0.59244	D	.	.	0.825	0.78481	P	.	.	3.749657	0.53743	23.4	0.99685069755893041	0.79507	0.94391	0.61016	D	AEFBI	0.463643	0.51247	N	0.48137126087024	0.66002	4.894179	0.468544706869694	0.65915	4.884658	0.997566039799412	0.35763	0.706548	0.73137	0	0.708844	0.79440	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.88	4.91	0.63897	2.988000	0.49074	1.681000	0.28012	0.596000	0.33519	0.992000	0.37556	0.999000	0.35428	0.966000	0.53164	0.2642:0.7358:0.0:0.0	14.673	0.68567	562	0.71143	.	.	.	.	.	.	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	0.04762	2117.11	33	chr16	50104942	.	C	A	2117.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.01;DP=776;ExcessHet=0.1072;FS=0.693;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=17.50;ReadPosRankSum=0.547;SOR=0.798	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,25:54:99:0|1:50104941_A_T:962,0,1136:50104941	19	0	2	0
chr16	55529844	55529844	G	A	exonic	LPCAT2	.	nonsynonymous SNV	LPCAT2:NM_017839:exon4:c.G539A:p.R180Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.989	D	0.782	P	0.000	N	0.999	D	1.97	M	-4.56	D	0.963	D	0.918	D	0.243	4.392	23.2	4.33	1.366	5.969	13.067	0.637	0.215954478278	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1263512562	6.867e-06	8.209e-06	8.196e-06	5.524e-06	2.525e-05	3.47e-06	2.53e-06	3.1e-06	2.24e-06	0	0	0	2.525e-05	0	0	7.212e-06	0	1.174e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.166	0.30828	T	0.989	0.62824	D	0.782	0.57384	P	0.000003	0.62929	N	0.104854	0.999054	0.45965	D	2.085	0.57729	M	-4.56	0.97772	D	-1.22	0.30964	N	0.52	0.55019	0.963	0.96588	D	0.918	0.97298	D	10	0.74290794	0.75084	D	0.215954	0.87534	D	0.637	0.86130	0.741	0.87317	0.874144960931	0.87291	0.598303703254258	0.59761	0.82754777831	0.67484	0.415819913149	0.27261	T	0.345423	0.71381	T	0.0179946	0.54110	T	-0.0394707	0.67737	D	0.646360039710999	0.38307	D	0.808619	0.45852	T	0.21536659	0.43967	0.15381515	0.36127	0.21536659	0.43967	0.15381515	0.36126	-7.446	0.57229	T	.	.	0.083	0.09433	B	.	.	3.988717	0.58685	24.0	0.99927349548176991	0.99163	0.98010	0.78847	D	AEFBI	0.524610	0.54772	D	0.548438754183465	0.69988	5.435819	0.53074002283444	0.70068	5.451269	0.999889196745424	0.44867	0.722319	0.85440	0	0.573888	0.26702	0	0.618467	0.43123	0	0.735409	0.98432	0	.	.	5.29	4.33	0.51083	5.155000	0.64745	2.316000	0.32105	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0778:0.0:0.9222:0.0	13.067	0.58449	802	0.44336	Phospholipid/glycerol acyltransferase|Phospholipid/glycerol acyltransferase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	726.98	33	chr16	55529844	.	G	A	726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.160e-01;DP=738;ExcessHet=0.0000;FS=1.099;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-1.055e+00;SOR=1.022	GT:AD:DP:GQ:PL	0/1:24,29:53:99:741,0,628	20	0	1	0
chr16	55852892	55852892	C	G	exonic	CES5A	.	nonsynonymous SNV	CES5A:NM_001143685:exon10:c.G1262C:p.R421P	.	.	437	1068	15	1	1	18	0.00789596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.896	P	0.631	P	0.978	N	1.000	N	3.4	M	3.06	T	-0.938	T	0.064	T	0.67	1.882	12.25	-6.11	-1.205	-0.420	15.763	0.229	0.00758740576736	0.0007	0.000798722	0.0013	0.0004	0.0025	0	0	0.0015	0.0022	0.0018	0.0012613	195	154602	rs147727760	0.0010	0.0010	0.0010	0.0011	0.0353	0.0010	0.0010	0.0312	0.0297	0.0007	0.0039	0.0041	5.04e-05	3.746e-05	0.0353	0.0007	0.0024	0.0013	0.0011	0.0011	0.0010	0.0013	0.0019	0.0010	0.0009	0.0014	0.0012	0.0003	0	0.0019	0.0043	0	0	0.0685	0.0011	0.0057	0.0010	0.003	0.72154	D	0.008	0.67890	D	0.077	0.49324	B	0.076	0.51788	B	0.978265	0.08111	N	0.985983	0.999995	0.08975	N	3.99	0.96693	H	3.06	0.08634	T	-3.49	0.68056	D	0.468	0.50418	-0.9376	0.42994	T	0.064	0.26597	T	10	0.012463182	0.00268	T	0.007587	0.20139	T	0.229	0.52916	.	.	0.0401082797425	0.02173	0.7536031567397384	0.75307	0.243668225337	0.26869	0.228653237224	0.01870	T	0.444027	0.84784	T	-0.381525	0.03048	T	-0.322284	0.42324	T	0.130970427890295	0.15472	T	0.880912	0.66351	D	0.85855764	0.87977	0.8964487	0.94724	0.85855764	0.87978	0.8964487	0.94725	-11.884	0.84488	D	.	.	0.853	0.84963	P	.;.;.;.;.;.	.;.;.;.;.;.	1.864301	0.23680	16.11	0.95851265854640877	0.27992	0.07361	0.13381	N	AEFBI	0.219557	0.34443	N	-0.833271946106346	0.12465	0.6078047	-1.08622805862246	0.07971	0.3899093	0.00125429439532242	0.08381	0.487112	0.14033	0	0.55458	0.17659	0	0.023989	0.00149	3	0.564101	0.26826	0	.	.	5.41	-6.11	0.01950	-0.441000	0.06951	-2.593000	0.03570	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.258000	0.23468	0.0:0.7253:0.0:0.2747	15.763	0.77871	929	0.16858	.;.;.;Carboxylesterase, type B;Carboxylesterase, type B;Carboxylesterase, type B	.	.	.	.	.	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	0.04762	2357.11	40	chr16	55852892	.	C	G	2357.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.36;DP=896;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.39;ReadPosRankSum=-3.370e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1133,0,1031	19	0	2	0
chr16	57061497	57061497	G	A	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001384958:exon29:c.G3862A:p.G1288S	.	.	417	1085	19	1	0	21	0.00958466	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.043	B	0.008	B	.	.	1.000	N	0.805	L	5.52	T	-1.011	T	0.031	T	0.346	0.786	8.146	-6.84	-0.983	-0.494	2.167	0.009	.	0.0006	0.00519169	0.0024	0.0002	0.0008	0	0.0002	0.0013	0.0022	0.0114	0.0022251	344	154602	rs140644178	0.0014	0.0014	0.0010	0.0017	0.0097	0.0013	0.0013	0.0092	0.0090	0.0003	0.0013	0.0013	2.519e-05	0	0.0043	0.0008	0.0019	0.0097	0.0012	0.0012	0.0011	0.0014	0.0149	0.0011	0.0010	0.0121	0.0111	0.0001	0	0.0024	0.0006	0	0	0.0034	0.0009	0.0038	0.0149	0.581	0.09430	T	0.763	0.14961	T	0.009	0.15093	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	0.59	0.53943	T	-0.55	0.16799	N	0.108	0.09349	-1.0114	0.26478	T	0.031	0.13418	T	9	0.0045095086	0.00093	T	.	.	.	0.027	0.05988	.	.	0.178374595973	0.17440	0.1994328234203873	0.19860	0.244945792748	0.27014	0.247742697597	0.03533	T	0.002731	0.11287	T	-0.495399	0.00607	T	-0.476421	0.24828	T	0.00213010454997645	0.00022	T	0.740526	0.36808	T	0.032330096	0.03238	0.03416993	0.02437	0.032330096	0.03238	0.03416993	0.02437	-4.083	0.25039	T	.	.	0.091	0.16275	B	.;.;.;.;.	.;.;.;.;.	0.390010	0.07614	4.278	0.93016140442936501	0.22612	0.03277	0.08320	N	ALL	0.039478	0.05739	N	-0.919301168992132	0.10392	0.4963277	-1.11312710605194	0.07449	0.362362	0.999999999999988	0.74766	0.740787	0.97801	0	0.697927	0.68747	0	0.767554	0.98243	0	0.669	0.65921	0	.	.	4.55	-6.84	0.01527	-0.443000	0.06935	-0.487000	0.08883	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.3196:0.3866:0.1737:0.1202	2.167	0.03605	824	0.40336	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2337.11	36	chr16	57061497	.	G	A	2337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.47;DP=842;ExcessHet=0.1072;FS=0.569;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=0.022;SOR=0.636	GT:AD:DP:GQ:PL	0/1:37,43:80:99:1214,0,868	19	0	2	0
chr16	57884336	57884336	G	C	exonic	CNGB1	.	nonsynonymous SNV	CNGB1:NM_001286130:exon33:c.C3566G:p.S1189C	Retinitis pigmentosa 45, Autosomal recessive	.	22	1486	14	0	0	14	0.00468855	.	.	325986	not_provided|Retinitis_pigmentosa_45|not_specified|Retinitis_pigmentosa	MedGen:C3661900|MONDO:MONDO:0013413,MedGen:C3151066,OMIM:613767,Orphanet:791|MedGen:CN169374|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	.	.	.	.	.	.	.	.	0.02	D	0.991	D	0.892	P	0.005	N	1.000	N	1.04	L	-4.15	D	0.339	D	0.839	D	0.234	1.700	11.64	0.709	0.682	1.118	.	0.315	.	0.0005	0.00319489	0.0020	0.0001	8.983e-05	0.0001	0.0002	0.0009	0	0.0103	0.0016623	257	154602	rs201186180	0.0013	0.0013	0.0010	0.0016	0.0122	0.0013	0.0012	0.0116	0.0113	9.209e-05	0.0005	0.0019	2.623e-05	0	0.0025	0.0006	0.0014	0.0122	0.0012	0.0024	0.0011	0.0012	0.0162	0.0010	0.0009	0.0128	0.0116	0.0001	0	0.0007	0.0025	0	0	0	0.0010	0.0029	0.0162	0.008	0.58626	D	0.013	0.63109	D	0.991	0.64070	D	0.892	0.63276	P	0.004813	0.33369	N	0.210965	1	0.08975	N	1.1	0.28011	L	-4.15	0.96826	D	-1.7	0.40468	N	0.149	0.16447	0.339	0.88171	D	0.839	0.94631	D	9	0.0062243044	0.00140	T	.	.	.	0.315	0.63694	.	.	0.370608029945	0.36667	0.22524337755772522	0.22439	0.226183651891	0.25174	0.569940984249	0.48669	T	0.116772	0.43635	T	-0.263442	0.12500	T	-0.141798	0.59963	T	0.0158235121349162	0.00370	T	0.253475	0.03884	T	0.22752666	0.45455	0.19974965	0.43872	0.21010414	0.43297	0.23260987	0.48425	-6.538	0.50579	T	.	.	0.090	0.12560	B	.;.	.;.	2.575790	0.33383	19.32	0.98159399513066947	0.38755	0.18044	0.20096	N	AEFDBI	0.053342	0.09602	N	-0.623392752778048	0.18242	0.9455637	-0.845205716663947	0.13403	0.6950866	0.999657027149526	0.41424	0.59774	0.34471	0	0.59043	0.45803	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	0.709	0.709	0.17307	1.519000	0.35495	0.592000	0.19832	0.347000	0.19874	0.075000	0.22209	0.035000	0.21413	0.011000	0.09372	.	.	.	888	0.27761	.;.	.	.	.	.	.	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	0.02381	609.98	40	chr16	57884336	.	G	C	609.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.437e+00;DP=723;ExcessHet=0.0000;FS=3.366;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=-9.960e-01;SOR=0.238	GT:AD:DP:GQ:PL	0/1:11,24:35:99:624,0,311	20	0	1	0
chr16	67230718	67230718	C	T	exonic	FHOD1	.	nonsynonymous SNV	FHOD1:NM_013241:exon18:c.G2741A:p.R914Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.231	B	0.163	B	0.000	N	0.686	D	1.385	L	2.32	T	-1.048	T	0.036	T	0.125	2.623	14.73	2.14	0.728	4.002	7.360	0.073	0.018654897352	0.0008	0.000199681	0.0011	0.0003	0.0008	0	0.0035	0.0014	0.0022	0.0003	0.0010349	160	154602	rs147506405	0.0008	0.0008	0.0008	0.0008	0.0008	0.0007	0.0007	0.0008	0.0007	8.963e-05	0.0004	3.832e-05	0	0.0031	0.0007	0.0008	0.0007	0.0002	0.0007	0.0007	0.0007	0.0006	0.0011	0.0006	0.0005	0.0009	0.0008	9.619e-05	0	6.534e-05	0	0	0.0016	0	0.0011	0	0.0006	0.029	0.45756	D	0.045	0.49390	D	0.231	0.30614	B	0.163	0.34892	B	0.000055	0.53742	N	0.155895	0.685845	0.33278	D	0.895	0.22405	L	2.32	0.16640	T	-1.14	0.29323	N	0.229	0.25745	-1.0477	0.15045	T	0.036	0.15509	T	10	0.0077819526	0.00177	T	0.018655	0.40796	T	0.073	0.21317	.	.	0.475971816791	0.47228	0.11375642890415644	0.11303	0.560730151765	0.52593	0.390138864517	0.23689	T	0.057824	0.30673	T	-0.556146	0.00268	T	-0.596269	0.13126	T	0.0356543849253602	0.02920	T	0.793521	0.43550	T	0.092549145	0.21715	0.08704327	0.20207	0.092549145	0.21715	0.08704327	0.20207	-8.424	0.63924	D	.	.	0.08	0.07793	B	.	.	3.822274	0.55193	23.6	0.99825657502451826	0.90764	0.70939	0.34800	D	AEFBHCI	0.101827	0.20442	N	-0.209869850961255	0.32729	1.849038	-0.164427293882947	0.32856	1.873527	0.943405903924337	0.27567	0.67177	0.52595	0	0.697927	0.68747	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.61	2.14	0.26518	4.049000	0.57110	1.746000	0.28438	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.754000	0.35928	0.0:0.5857:0.0:0.4143	7.360	0.25915	25	0.98345	Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	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	0.04762	5529.08	33	chr16	67230718	.	C	T	5529.08	.	AC=2;AF=0.048;AN=42;DP=886;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.72;SOR=0.912	GT:AD:DP:GQ:PL	1/1:0,169:169:99:5557,507,0	20	1	0	0
chr16	67270751	67270751	G	A	exonic	SLC9A5	.	nonsynonymous SNV	SLC9A5:NM_001323971:exon13:c.G1856A:p.C619Y,	.	.	429	1056	36	1	0	38	0.0176744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.00638978	0.0115	0.0021	0.0024	0.0003	0.0062	0.0102	0.0185	0.0424	0.0083117	1285	154602	rs143000650	0.0093	0.0093	0.0087	0.0099	0.0264	0.0092	0.0091	0.0255	0.0251	0.0010	0.0023	0.0050	7.591e-05	0.0045	0.0118	0.0092	0.0088	0.0264	0.0056	0.0056	0.0055	0.0056	0.0243	0.0053	0.0051	0.0207	0.0194	0.0014	0.0033	0.0027	0.0035	0.0004	0.0024	0	0.0086	0.0024	0.0243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	2365.08	33	chr16	67270751	.	G	A	2365.08	.	AC=2;AF=0.048;AN=42;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=32.85;SOR=2.115	GT:AD:DP:GQ:PL	1/1:0,72:72:99:2393,215,0	20	1	0	0
chr16	67304454	67304454	A	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon3:c.T418A:p.S140T,	.	.	424	1061	36	1	0	38	0.0175926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.985	D	0.542	P	0.001	N	0.922	N	0.55	N	0.14	T	-0.898	T	0.114	T	0.282	4.200	21.8	5.87	2.233	3.244	13.629	0.182	.	0.0071	0.00658946	0.0087	0.0015	0.0018	0.0002	0.0047	0.0079	0.0144	0.0270	0.0084216	1302	154602	rs143573730	0.0094	0.0094	0.0087	0.0100	0.0266	0.0092	0.0092	0.0257	0.0253	0.0010	0.0023	0.0050	7.557e-05	0.0046	0.0123	0.0092	0.0088	0.0266	0.0056	0.0056	0.0056	0.0056	0.0245	0.0053	0.0052	0.0209	0.0195	0.0014	0.0033	0.0027	0.0035	0.0004	0.0023	0	0.0087	0.0024	0.0245	0.007	0.59928	D	0.111	0.37173	T	0.985	0.61118	D	0.542	0.48916	P	0.001385	0.39175	N	0.116318	0.921889	0.27273	N	0.895	0.22405	L	0.14	0.60854	T	-0.65	0.18877	N	0.375	0.41656	-0.8979	0.48205	T	0.114	0.40513	T	10	0.006156385	0.00139	T	.	.	.	0.182	0.45420	.	.	0.78800085046	0.78603	0.7784897433197607	0.77798	0.837338821554	0.67864	0.76940703392	0.77336	T	0.019758	0.15682	T	-0.426939	0.01547	T	-0.365095	0.37462	T	0.0246198427217777	0.01224	T	0.688231	0.29741	T	0.16197774	0.36243	0.16115986	0.37501	0.15422364	0.34918	0.16115986	0.37500	-3.83	0.21253	T	.	.	0.108	0.20313	B	.	.	3.664333	0.52068	23.2	0.99360921978537375	0.60987	0.93602	0.58667	D	AEFBI	0.485667	0.52516	N	0.31610546893752	0.56975	3.863271	0.390190990393839	0.60959	4.289605	0.999997023525818	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.87	5.87	0.94266	2.614000	0.46024	11.312000	0.92460	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	1.0:0.0:0.0:0.0	13.629	0.61651	34	0.98095	.	PLEKHG4|PLEKHG4|SLC7A6	Brain_Cerebellum|Brain_Cortex|Thyroid	.	.	.	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	0.04762	3271.08	33	chr16	67304454	.	A	T	3271.08	.	AC=2;AF=0.048;AN=42;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.86;SOR=1.085	GT:AD:DP:GQ:PL	1/1:0,106:106:99:3299,318,0	20	1	0	0
chr16	69119798	69119798	G	C	exonic	DERPC	.	nonsynonymous SNV	DERPC:NM_001366603:exon2:c.C631G:p.P211A	.	.	426	1078	17	1	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.001	B	0.003	B	0.042	N	1.000	N	.	.	1.92	T	-1.052	T	0.028	T	0.092	0.982	9.008	-0.357	0.248	1.343	2.114	0.028	.	.	0.00419329	0.0115	0.0018	0.0053	0	0.125	0.0056	0.0076	0.0153	0.0015394	238	154602	rs185866245	0.0043	0.0038	0.0035	0.0050	0.0134	0.0042	0.0041	0.0127	0.0124	0.0005	0.0021	0.0028	0	0.0063	0.0043	0.0034	0.0034	0.0134	0.0027	0.0027	0.0025	0.0029	0.0124	0.0025	0.0024	0.0099	0.0090	0.0004	0	0.0038	0.0032	0	0.0041	0.0035	0.0032	0.0019	0.0124	0.0	0.91255	D	0.373	0.16328	T	0.001	0.07471	B	0.003	0.08700	B	0.041520	0.23942	N	0.299706	0.999993	0.58761	D	.	.	.	1.92	0.23082	T	0.14	0.05405	N	0.246	0.27792	-1.0519	0.13872	T	0.028	0.12147	T	9	0.0026232302	0.00040	T	.	.	.	0.028	0.06331	.	.	0.247872288689	0.24386	0.0850487383074622	0.08438	.	.	0.483097851276	0.36483	T	0.015917	0.13255	T	-0.581976	0.00187	T	-0.597068	0.13057	T	0.0214830953862535	0.00852	T	0.445855	0.12478	T	0.050773207	0.09225	0.05342995	0.08997	0.050773207	0.09224	0.05342995	0.08996	-5.831	0.44844	T	.	.	0.079	0.07177	B	.	.	2.220679	0.28336	17.76	0.90590718042576435	0.19844	0.32714	0.24653	N	AEFDBCI	0.080978	0.16379	N	-0.463881499344363	0.23272	1.248528	-0.392717760883038	0.25212	1.385206	0.0372603808181577	0.14287	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-0.357	0.11953	1.121000	0.30897	2.798000	0.34835	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.974000	0.55675	0.1664:0.2872:0.3989:0.1476	2.114	0.03483	202	0.92131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	6341.9	34	chr16	69119798	.	G	C	6341.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.610e-01;DP=981;ExcessHet=0.0082;FS=0.920;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=59.96;MQRankSum=0.00;QD=19.45;ReadPosRankSum=0.900;SOR=0.637	GT:AD:DP:GQ:PL	1/1:0,112:112:99:3475,335,0	18	1	2	0
chr16	77212327	77212327	A	C	exonic	SYCE1L	.	nonsynonymous SNV	SYCE1L:NM_001348924:exon7:c.A416C:p.H139P	.	.	390	1116	14	2	0	18	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	0.608	U	1.000	N	0	N	0.92	T	-1.031	T	0.053	T	0.081	0.671	7.591	0.55	-0.104	0.028	5.215	0.010	.	.	0.00259585	0.0034	0	0	0	0	0.0020	0	0.0052	0.0008068	21	26028	rs563915036	0.0008	0.0008	0.0006	0.0010	0.0065	0.0008	0.0007	0.0060	0.0058	0.0007	0.0007	0.0071	2.847e-05	4.254e-05	0.0041	0.0003	0.0014	0.0065	0.0007	0.0007	0.0006	0.0008	0.0069	0.0006	0.0005	0.0050	0.0044	4.821e-05	0.0022	0.0010	0.0058	0.0004	0	0.0103	0.0003	0.0024	0.0069	0.284	0.15303	T	0.317	0.19304	T	0.0	0.02946	B	0.0	0.01387	B	0.608157	0.05685	U	1.615030	1	0.08975	N	0	0.06538	N	0.92	0.44461	T	-0.34	0.12661	N	0.068	0.04072	-1.0308	0.20195	T	0.053	0.22539	T	10	0.003554076	0.00064	T	.	.	.	0.010	0.01040	.	.	0.0297737177859	0.01360	0.07145139790183969	0.07082	2.51436962822E-4	0.00014	0.398789763451	0.24900	T	5.55E-4	0.00219	T	-0.559405	0.00256	T	-0.576057	0.14898	T	0.00948043332231999	0.00122	T	0.144286	0.01174	T	0.10560573	0.24970	0.11362108	0.27423	0.10560573	0.24970	0.11362108	0.27422	-3.397	0.15016	T	.	.	0.081	0.08129	B	.	.	0.939460	0.13151	9.652	0.6522926523551581	0.07714	0.04932	0.10689	N	ALL	0.066917	0.13127	N	-1.34394922683636	0.03188	0.1419939	-1.37463106260825	0.03524	0.1645718	0.999999999986809	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.47417	0.07244	0	0.372554	0.06265	0	.	.	2.61	0.55	0.16408	-0.064000	0.11593	0.003000	0.13321	-0.193000	0.09282	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.4696:0.0:0.5304:0.0	5.215	0.14658	859	0.33891	.	.	.	.	.	.	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	0.02381	42.98	20	chr16	77212327	.	A	C	42.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.324;DP=573;ExcessHet=0.0000;FS=2.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.53;ReadPosRankSum=0.820;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:14,3:17:57:1|0:77212321_G_A:57,0,579:77212321	20	0	1	0
chr16	81117404	81117404	C	G	exonic	PKD1L2	.	unknown	UNKNOWN,	.	.	428	1056	37	1	0	39	0.0181311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0022	0	0.0003	0	0.0003	0.0008	0.0067	0.0121	0.0018176	281	154602	rs201624580	0.0012	0.0012	0.0008	0.0017	0.0126	0.0012	0.0012	0.0119	0.0117	0.0002	0.0002	7.66e-05	5.039e-05	0.0003	0.0045	0.0005	0.0014	0.0126	0.0007	0.0007	0.0006	0.0008	0.0087	0.0006	0.0005	0.0066	0.0059	0.0001	0	0.0002	0	0.0008	0	0	0.0007	0.0014	0.0087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	1770.11	35	chr16	81117404	.	C	G	1770.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.344;DP=851;ExcessHet=0.1072;FS=3.952;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=0.275;SOR=0.425	GT:AD:DP:GQ:PL	0/1:39,37:76:99:891,0,904	19	0	2	0
chr16	84191362	84191367	GCCCGC	-	exonic	ADAD2	.	nonframeshift deletion	ADAD2:NM_001145400:exon1:c.132_137del:p.P49_A50del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0.0008	0	0	0.0002	0	0.0017	0.0003363	52	154602	rs745979380	0.0002	0.0002	0.0002	0.0002	0.0017	0.0002	0.0002	0.0012	0.0011	0	0.0007	0	5.229e-05	0	0.0017	0.0001	0.0004	0.0014	0.0003	0.0003	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	0	0	0.0006	0	0.0002	0	0	0.0003	0	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	9312.79	48	chr16	84191361	.	GGCCCGC	AGCCCGC,G	9312.79	.	AC=12,1;AF=0.286,0.024;AN=42;BaseQRankSum=0.595;DP=904;ExcessHet=0.2231;FS=3.336;InbreedingCoeff=0.2202;MLEAC=12,1;MLEAF=0.286,0.024;MQ=60.00;MQRankSum=0.00;QD=18.12;ReadPosRankSum=-4.400e-02;SOR=0.756	GT:AD:DP:GQ:PL	1/1:0,38,0:38:99:1238,114,0,1238,114,1238	11	2	7	0
chr16	88436039	88436039	G	C	exonic	ZNF469	.	nonsynonymous SNV	ZNF469:NM_001367624:exon3:c.G8569C:p.V2857L,	Brittle cornea syndrome 1, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.005	B	0.006	B	.	.	1.000	N	0.55	N	0.93	T	-1.033	T	0.051	T	0.09	-0.010	3.964	-3.42	-0.624	-0.269	1.749	0.047	0.290819134338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	0.15930	T	0.198	0.27767	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.88	0.23808	N	0.098	0.07949	-1.0330	0.19490	T	0.051	0.21572	T	9	0.033857733	0.01574	T	0.290819	0.90557	D	0.047	0.12962	0.062	0.00241	0.0482279557977	0.04254	0.05778466525355656	0.05719	.	.	0.34829890728	0.17672	T	0.013528	0.11682	T	-0.315388	0.07282	T	-0.69081	0.06343	T	0.0342345647513866	0.02677	T	0.49795	0.15494	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.38480	B	.;.	.;.	-0.302853	0.02606	0.323	0.36900263803691985	0.02400	0.09517	0.15255	N	AEFDBI	0.090526	0.18343	N	-1.38570647527791	0.02771	0.1228472	-1.41714451955664	0.03080	0.1429999	0.813156251799272	0.24391	0.646311	0.45356	0	0.547309	0.14657	0	0.578056	0.29568	0	0.699875	0.68795	0	.	.	5.28	-3.42	0.04521	-0.197000	0.09519	-0.427000	0.09246	-0.673000	0.04287	0.000000	0.06391	0.000000	0.08366	0.162000	0.20715	0.4266:0.2183:0.232:0.1232	1.749	0.02789	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	851.14	104	chr16	88436039	.	G	C	851.14	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.850e+00;DP=2947;ExcessHet=1.7912;FS=169.057;InbreedingCoeff=-0.1947;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=1.04;SOR=12.397	GT:AD:DP:GQ:PL	0/1:99,31:130:39:39,0,1784	14	0	6	1
chr16	89284161	89284161	A	G	exonic	ANKRD11	.	nonsynonymous SNV	ANKRD11:NM_001256183:exon9:c.T2381C:p.I794T	KBG syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.473	N	1.000	N	-0.69	N	1.34	T	-1.005	T	0.024	T	0.026	-1.923	0.008	-1.61	-0.189	0.562	1.593	0.018	0.00727015055541	.	.	8.591e-06	0	8.868e-05	0	0	0	0	0	6.5e-06	1	154602	rs759272573	1.377e-06	3.42e-06	1.369e-06	1.386e-06	4.661e-05	2.3e-07	9e-08	7.73e-06	2.89e-06	0	4.661e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.52	0.10465	T	0.0	0.02946	B	0.0	0.01387	B	0.473085	0.12254	N	0.748708	1	0.08975	N	-1.085	0.01025	N	1.34	0.34841	T	1.27	0.00985	N	0.046	0.02088	-1.0048	0.28517	T	0.024	0.10194	T	10	0.016104728	0.00339	T	0.00727	0.19280	T	0.018	0.03083	0.218	0.13932	0.102598925029	0.09809	3.480766670945786E-4	0.00031	0.108005847181	0.12179	0.323267638683	0.13916	T	0.061263	0.31607	T	-0.50949	0.00505	T	-0.78994	0.02166	T	0.0337778290875112	0.02601	T	0.126787	0.01303	T	0.020807045	0.00653	0.037021473	0.03266	0.020807045	0.00653	0.037021473	0.03266	-3.569	0.17410	T	0.0408067304843778	0.00374	0.07	0.06024	B	.;.;.;.	.;.;.;.	-0.089938	0.03702	0.755	0.29245769297825269	0.01541	0.12818	0.17497	N	AEDBI	0.048489	0.08280	N	-1.30269010940199	0.03644	0.1631694	-1.23211650683061	0.05401	0.257258	0.785011936865866	0.23914	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.43	-1.61	0.07951	0.642000	0.24426	0.839000	0.22025	-0.752000	0.03574	0.196000	0.24261	0.001000	0.17328	0.524000	0.29567	0.2653:0.2317:0.3836:0.1193	1.593	0.02498	819	0.41190	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.3529	1077.74	147	chr16	89284161	.	A	G	1077.74	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.922e+00;DP=2410;ExcessHet=9.6308;FS=135.155;InbreedingCoeff=-0.4981;MLEAC=14;MLEAF=0.412;MQ=60.00;MQRankSum=0.00;QD=0.73;ReadPosRankSum=0.835;SOR=11.622	GT:AD:DP:GQ:PL	0/1:90,26:116:80:80,0,1973	5	0	12	4
chr16	89556070	89556070	G	T	exonic	SPG7	.	nonsynonymous SNV	SPG7:NM_001363850:exon17:c.G2374T:p.G792W,	Spastic paraplegia 7, autosomal recessive, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09213868	0.16198	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268673	0.04486	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.56586	B	.;.;.	.;.;.	-0.595125	0.01585	0.106	0.44471141885104803	0.03421	0.00757	0.03139	N	AEFBI	.	.	.	.	.	.	.	.	.	0.997794644441177	0.36039	0.115753	0.02995	0	0.12628	0.03447	0	0.12342	0.03364	0	0.117559	0.03655	0	0.0509052	0.10014	0.953	-1.91	0.07225	-0.705000	0.05154	-1.107000	0.06310	-1.595000	0.00900	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3544:0.0:0.6456:0.0	6.496	0.21339	771	0.49057	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	37.89	2	chr16	89556070	.	G	T	37.89	.	AC=2;AF=0.091;AN=22;DP=59;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2813;MLEAC=2;MLEAF=0.091;MQ=60.00;QD=18.94;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	10	1	0	10
chr16	89767168	89767168	G	C	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon27:c.C2574G:p.S858R	Fanconi anemia, complementation group A, Autosomal recessive	.	3	1387	124	8	0	140	0.0480439	.	.	137995	Fanconi_anemia_complementation_group_A|not_specified|not_provided|Fanconi_anemia|FANCA-related_disorder	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.19	T	0.468	P	0.143	B	0.179	N	1.000	N	1.61	L	-1.88	D	-0.709	T	0.315	T	0.357	-0.052	3.749	1.56	0.073	1.381	4.561	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	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	1	0	0	1	0	1	0	0.119	4261.42	36	chr16	89767168	.	G	C	4261.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.680e-01;DP=861;ExcessHet=0.0409;FS=2.815;InbreedingCoeff=0.3189;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=16.39;ReadPosRankSum=0.895;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,59:59:99:1777,177,0	17	1	3	0
chr17	413815	413815	C	0	exonic	C17orf97	.	.	.	.	.	492	947	19	0	64	83	0.00993204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2918.97	43	chr17	413815	.	C	T,*	2918.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-9.170e-01;DP=995;ExcessHet=1.0444;FS=2.763;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=51.80;MQRankSum=-3.755e+00;QD=7.60;ReadPosRankSum=-9.580e-01;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,13:40:99:.:.:277,359,1459,0,1100,1054	10	0	5	3
chr17	413822	413822	C	0	exonic	C17orf97	.	.	.	.	.	509	931	17	0	65	82	0.00904737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3137.97	43	chr17	413822	.	C	A,*	3137.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=-1.168e+00;DP=1002;ExcessHet=1.0444;FS=2.178;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.17;MQRankSum=-3.592e+00;QD=7.94;ReadPosRankSum=-4.250e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,13:40:99:.:.:277,359,1459,0,1100,1054	10	0	5	3
chr17	413824	413824	C	0	exonic	C17orf97	.	.	.	.	.	487	954	61	4	16	85	0.0349014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3065.97	43	chr17	413824	.	C	T,*	3065.97	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.335;DP=1012;ExcessHet=1.0444;FS=2.500;InbreedingCoeff=-0.0264;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.20;MQRankSum=-3.428e+00;QD=7.59;ReadPosRankSum=-6.710e-01;SOR=0.530	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,13:40:99:.:.:277,359,1459,0,1100,1054	10	0	5	3
chr17	413831	413831	A	0	exonic	C17orf97	.	.	.	.	.	725	697	61	4	35	104	0.0471634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3197.3	43	chr17	413831	.	A	G,*	3197.3	.	AC=5,4;AF=0.139,0.111;AN=36;BaseQRankSum=0.140;DP=1043;ExcessHet=1.1637;FS=2.534;InbreedingCoeff=0.0221;MLEAC=6,4;MLEAF=0.167,0.111;MQ=52.56;MQRankSum=-3.559e+00;QD=7.69;ReadPosRankSum=-1.155e+00;SOR=0.480	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:27,0,13:40:99:.:.:277,359,1459,0,1100,1054	10	0	5	3
chr17	4543119	4543119	G	A	exonic	MYBBP1A	.	nonsynonymous SNV	MYBBP1A:NM_001105538:exon20:c.C2686T:p.R896C	.	.	.	.	.	.	.	.	.	.	.	3316038	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.022	B	0.004	B	0.064	N	1.000	N	0.255	N	-0.31	T	-0.965	T	0.129	T	0.461	2.330	13.75	-7.59	-1.782	-0.781	7.040	0.214	0.0280449155429	.	.	0.0001	0	0.0003	0	0	4.817e-05	0	0.0006	9.7e-05	15	154602	rs767507272	5.412e-05	5.404e-05	3.953e-05	6.887e-05	0.0003	4.417e-05	4.089e-05	0.0002	0.0002	0	0.0003	0	5.042e-05	0	0.0003	3.329e-05	4.973e-05	0.0003	3.94e-05	3.937e-05	5.14e-05	2.685e-05	0.0004	1.714e-05	1.129e-05	7.287e-05	3.028e-05	0	0	0.0001	0	0	0	0	2.941e-05	0	0.0004	0.183	0.21884	T	0.178	0.29639	T	0.022	0.18677	B	0.004	0.10090	B	0.063947	0.02172	N	1.909800	1	0.08975	N	0.785	0.19527	N	-0.31	0.68030	T	-0.73	0.20576	N	0.154	0.15888	-0.9652	0.38171	T	0.129	0.43726	T	10	0.052520275	0.05299	T	0.028045	0.50780	D	0.214	0.50650	0.452	0.51448	0.546000776237	0.54254	0.2255264411711185	0.22467	.	.	0.274867087603	0.06787	T	0.064117	0.32352	T	-0.301077	0.08558	T	-0.354096	0.38735	T	0.0173977334052324	0.00477	T	0.677032	0.28590	T	0.055301618	0.10729	0.03301203	0.02128	0.055301618	0.10729	0.03301203	0.02128	-7.002	0.54187	T	.	.	0.105	0.19276	B	.;.	.;.	1.354241	0.17625	13.27	0.9383797012298003	0.23829	0.12329	0.17202	N	AEFDBCI	0.062226	0.11948	N	-1.31507577748599	0.03502	0.156539	-1.40514710758318	0.03200	0.148791	0.907501409508204	0.26261	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.91	-7.59	0.01167	-0.377000	0.07513	0.485000	0.18844	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4685:0.2369:0.2946:0.0	7.040	0.24192	779	0.47767	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	913.98	37	chr17	4543119	.	G	A	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.420e-01;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.44;ReadPosRankSum=0.092;SOR=0.693	GT:AD:DP:GQ:PL	0/1:34,34:68:99:928,0,885	20	0	1	0
chr17	4555303	4555303	G	A	exonic	MYBBP1A	.	stopgain	MYBBP1A:NM_001105538:exon1:c.C22T:p.Q8X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	.	.	.	.	0.022	N	0.000	P	.	.	.	.	.	.	.	.	.	8.483	40	4.08	1.325	0.812	13.597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021789	0.26762	N	0.340848	1.08505e-31	0.81001	P	.	.	.	.	.	.	.	.	.	0.584	0.60495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.399883	0.89908	D	0.336628	0.89781	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	6.359783	0.95079	34	0.99709785534523143	0.81213	0.14346	0.18354	N	AEFGBHCIJ	0.025419	0.01737	N	0.141900574364266	0.48429	3.055294	-0.202917210802255	0.31431	1.778749	0.999999999999997	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.08	4.08	0.46880	0.383000	0.20381	1.287000	0.25388	-2.041000	0.00424	0.000000	0.06391	0.002000	0.18203	0.000000	0.00833	0.0:0.842:0.158:0.0	13.597	0.61460	744	0.52588	.;.	.	.	.	.	.	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	0.2143	13068.37	44	chr17	4555303	.	G	C,A	13068.37	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=-5.810e-01;DP=1414;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=16.27;ReadPosRankSum=0.432;SOR=0.738	GT:AD:DP:GQ:PL	1/1:0,102,0:102:99:2783,305,0,2783,305,2783	14	2	4	0
chr17	4632014	4632014	G	A	exonic	ALOX15	.	nonsynonymous SNV	ALOX15:NM_001140:exon13:c.C1684T:p.R562W,	.	.	419	1101	2	0	0	2	0.000907441	.	.	2342363	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.789	P	0.000	D	0.904	D	3.47	M	-1.68	D	0.563	D	0.693	D	0.765	3.180	16.64	3.32	0.992	0.191	9.133	0.688	0.0149698923733	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	0.00011	17	154602	rs770448397	5.68e-05	5.883e-05	4.766e-05	6.604e-05	0.0003	4.678e-05	4.303e-05	0.0002	0.0002	5.974e-05	8.955e-05	0	2.519e-05	1.881e-05	0	3.598e-05	0.0001	0.0003	0.0001	0.0001	7.709e-05	0.0001	0.0014	7.085e-05	5.743e-05	0.0007	0.0005	7.214e-05	0	0	0	0	0	0	0.0001	0	0.0014	0.015	0.52492	D	0.0	0.92824	D	0.995	0.67487	D	0.789	0.57669	P	0.000001	0.84330	D	0.000000	0.903643	0.36232	D	3.595	0.93690	H	-1.68	0.82897	D	-5.38	0.84954	D	0.618	0.65673	0.563	0.91410	D	0.693	0.89407	D	10	0.8264797	0.81825	D	0.01497	0.35426	T	0.688	0.88632	.	.	0.951619582754	0.95110	0.711132460192828	0.71055	0.284244868856	0.30848	0.589431762695	0.51413	T	0.818279	0.95529	D	0.00341832	0.52125	T	0.0592825	0.74198	D	0.792050778865814	0.45824	D	0.880212	0.59782	D	0.6476789	0.75240	0.61833197	0.77775	0.6476789	0.75241	0.61833197	0.77776	-8.238	0.62680	D	.	.	0.230	0.46261	B	.;.;.	.;.;.	2.948208	0.39226	20.9	0.99901445091141872	0.97350	0.78263	0.38586	D	AEFBI	0.665009	0.63398	D	0.463702798779968	0.64986	4.765844	0.356945296808621	0.58928	4.066504	0.0123904273684382	0.12320	0.51972	0.21558	0	0.588066	0.40923	0	0.735289	0.94003	0	0.542086	0.14980	0	.	.	4.33	3.32	0.37134	0.101000	0.15088	-2.235000	0.04018	0.590000	0.31872	0.884000	0.31069	0.000000	0.08366	0.962000	0.52141	0.0:0.0:0.782:0.218	9.133	0.36018	789	0.46346	Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;Lipoxygenase, C-terminal|Lipoxygenase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1783.98	38	chr17	4632014	.	G	A	1783.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.947e+00;DP=1168;ExcessHet=0.0000;FS=4.410;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.39;ReadPosRankSum=-5.310e-01;SOR=0.384	GT:AD:DP:GQ:PL	0/1:55,69:124:99:1798,0,1544	20	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	36673.09	217	chr17	4933907	.	ACCACCCCAGAGCCCAC	A,*	36673.09	.	AC=11,22;AF=0.262,0.524;AN=42;BaseQRankSum=-2.218e+00;DP=3857;ExcessHet=0.9430;FS=0.000;InbreedingCoeff=0.0101;MLEAC=11,22;MLEAF=0.262,0.524;MQ=59.64;MQRankSum=0.207;QD=13.33;ReadPosRankSum=0.579;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	2/2:0,0,95:95:99:.:.:3563,3563,3563,307,307,0	1	2	3	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	3830.01	217	chr17	4933915	.	A	*,G	3830.01	.	AC=30,4;AF=0.750,0.100;AN=40;BaseQRankSum=1.91;DP=3710;ExcessHet=0.5418;FS=1.062;InbreedingCoeff=-0.0551;MLEAC=31,4;MLEAF=0.775,0.100;MQ=59.65;MQRankSum=0.00;QD=1.56;ReadPosRankSum=0.309;SOR=0.941	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,95,0:95:99:.:.:3563,307,0,3563,307,3563	0	10	6	1
chr17	5007041	5007041	C	T	exonic	KIF1C	.	nonsynonymous SNV	KIF1C:NM_006612:exon14:c.C1292T:p.T431M,	Spastic ataxia 2, autosomal recessive, Autosomal recessive	.	429	1087	6	0	0	6	0.00275229	.	.	1336094	Hereditary_spastic_paraplegia|not_provided|Spastic_ataxia_2	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350,Orphanet:685|MedGen:C3661900|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302,Orphanet:397946	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.24	T	0.298	B	0.029	B	.	.	1.000	N	0.69	N	-0.71	T	-0.973	T	0.168	T	0.068	0.702	7.745	4.12	1.472	0.900	7.693	0.059	0.0224008324204	7.7e-05	.	0.0001	0	0.0003	0	0	9.08e-05	0.0011	0.0003	9.7e-05	15	154602	rs139663513	0.0001	0.0001	0.0001	0.0001	0.0033	0.0001	9.945e-05	0.0022	0.0018	0	0.0001	0	2.523e-05	0	0.0033	9.819e-05	0.0001	0.0004	9.197e-05	9.187e-05	0.0001	8.062e-05	0.0002	5.526e-05	4.364e-05	9.049e-05	7.013e-05	2.407e-05	0	0	0	0	0	0.0068	0.0002	0	0	0.118	0.28148	T	0.196	0.27943	T	0.298	0.32505	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-0.71	0.72889	T	-0.4	0.13805	N	0.205	0.22742	-0.9730	0.36562	T	0.168	0.50745	T	9	0.08874324	0.15309	T	0.022401	0.45285	T	0.059	0.16972	.	.	0.5866629029	0.58340	0.5779352966844059	0.57722	0.343638259999	0.36290	0.39686447382	0.24632	T	0.10157	0.40846	T	-0.39753	0.02403	T	-0.511242	0.21188	T	0.0226478130366397	0.00981	T	0.783522	0.42019	T	0.022773465	0.00963	0.047048837	0.06690	0.022773465	0.00963	0.047048837	0.06690	-5.492	0.41793	T	0.10897373016393204	0.09046	0.073	0.04517	B	.	.	1.561029	0.19993	14.54	0.96197771557419443	0.29013	0.31848	0.24440	N	AEFGBI	0.142894	0.26546	N	-0.663219848835384	0.17076	0.8756368	-0.664153934951135	0.17860	0.9515361	0.027707098982685	0.13789	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.09	4.12	0.47504	0.879000	0.27783	2.652000	0.33822	0.599000	0.40250	0.001000	0.13787	0.028000	0.21151	0.049000	0.15107	0.0:0.7441:0.1659:0.09	7.693	0.27747	580	0.69689	Kinesin-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	822.98	35	chr17	5007041	.	C	T	822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.672e+00;DP=758;ExcessHet=0.0000;FS=1.936;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.546;SOR=0.468	GT:AD:DP:GQ:PL	0/1:37,37:74:99:837,0,932	20	0	1	0
chr17	6707135	6707135	T	C	exonic	SLC13A5	.	nonsynonymous SNV	SLC13A5:NM_001143838:exon2:c.A124G:p.I42V	Epileptic encephalopathy, early infantile, 25, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.329	B	0.437	B	0.000	N	1.000	D	0.835	L	4.04	T	-0.852	T	0.013	T	0.366	1.608	11.33	3.15	0.437	2.350	6.904	0.134	0.0115125430183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.21304	T	0.31	0.25210	T	0.329	0.33227	B	0.437	0.45591	B	0.000000	0.84330	N	0.085895	0.998017	0.81001	D	1.19	0.30124	L	4.04	0.03121	T	-0.62	0.18248	N	0.321	0.38848	-0.8519	0.51837	T	0.013	0.04985	T	10	0.15944508	0.29958	T	0.011513	0.29207	T	0.134	0.36365	0.522	0.62518	0.313210971179	0.30940	0.42086618264418346	0.42002	0.2501032942	0.27591	0.424964904785	0.28520	T	0.109445	0.42332	T	-0.169951	0.25242	T	-0.4819	0.24244	T	0.407440274953842	0.29222	T	0.816518	0.47426	T	0.09399844	0.22091	0.11753781	0.28373	0.09399844	0.22091	0.11753781	0.28372	-4.2	0.28414	T	0.18332288541525327	0.23726	0.096	0.31532	B	.;.;.	.;.;.	2.352183	0.30154	18.35	0.94365882124775891	0.24726	0.80044	0.39789	D	AEFDBCI	0.369692	0.45633	N	-0.322972037126395	0.28278	1.558384	-0.194155532616306	0.31751	1.799816	0.215747925061085	0.18295	0.615465	0.37627	0	0.627178	0.54094	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.4	3.15	0.35301	2.593000	0.45845	0.594000	0.19852	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0801:0.151:0.769	6.904	0.23478	812	0.42537	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	290.11	40	chr17	6707135	.	T	C	290.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.262e+00;DP=1270;ExcessHet=0.1072;FS=202.956;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.744;SOR=8.468	GT:AD:DP:GQ:PL	0/1:133,31:164:99:231,0,4538	19	0	2	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.554	P	0.802	P	0.001	D	0.604	N	2.585	M	3.56	T	-1.117	T	0.046	T	0.639	4.235	22.0	2.75	0.471	1.653	10.030	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,28,0:119:99:.:.:261,0,2802,533,2883,3416	6	0	10	4
chr17	6800775	6800775	C	T	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021A:p.V341I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.112	B	0.341	B	0.001	N	0.837	N	1.89	L	3.53	T	-1.084	T	0.031	T	0.091	3.174	16.62	2.75	0.471	1.653	10.030	0.067	0.00715835594955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.081	0.41742	T	0.112	0.26290	B	0.341	0.42432	B	0.000902	0.41128	N	0.246339	0.836835	0.28685	N	2.085	0.57729	M	3.53	0.04852	T	-0.93	0.24898	N	0.185	0.20129	-1.0839	0.06609	T	0.031	0.13199	T	10	0.22078857	0.38785	T	0.007158	0.18979	T	0.067	0.19503	0.712	0.84781	0.148003135375	0.14442	0.3112784524375874	0.31040	0.154972287805	0.17502	0.400090247393	0.25082	T	0.025988	0.19322	T	-0.29632	0.09012	T	-0.663419	0.08038	T	0.66377192735672	0.39061	D	0.726327	0.34071	T	0.10866317	0.25691	0.13250326	0.31794	0.10866317	0.25691	0.13250326	0.31794	-5.762	0.44242	T	.	.	0.090	0.12512	B	.	.	2.315459	0.29642	18.19	0.99362639271959785	0.61071	0.80189	0.39893	D	AEFDBHCI	0.113020	0.22317	N	-0.0799309812297689	0.38272	2.239086	-0.0159644293184332	0.38992	2.305383	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3330.64	69	chr17	6800775	.	C	G,T	3330.64	.	AC=10,1;AF=0.294,0.029;AN=34;BaseQRankSum=-2.445e+00;DP=2964;ExcessHet=7.7275;FS=201.373;InbreedingCoeff=-0.4528;MLEAC=11,1;MLEAF=0.324,0.029;MQ=60.00;MQRankSum=0.00;QD=2.01;ReadPosRankSum=1.28;SOR=12.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,28,0:119:99:.:.:261,0,2802,533,2883,3416	6	0	10	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	0.994	D	3.515	H	2.96	T	-0.982	T	0.107	T	0.857	4.089	21.0	2.8	0.492	1.521	8.074	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	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	0.1944	1543.06	69	chr17	6800776	.	C	G,T	1543.06	.	AC=4,3;AF=0.111,0.083;AN=36;BaseQRankSum=-3.449e+00;DP=2429;ExcessHet=2.5830;FS=177.172;InbreedingCoeff=-0.2591;MLEAC=4,3;MLEAF=0.111,0.083;MQ=60.00;MQRankSum=0.00;QD=1.70;ReadPosRankSum=0.492;SOR=11.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:91,9,19:119:83:.:.:158,83,2929,0,2779,2807	11	0	4	3
chr17	7393828	7393828	G	A	exonic	PLSCR3	.	nonsynonymous SNV	PLSCR3:NM_001201576:exon3:c.C16T:p.P6S	.	.	416	1100	6	0	0	6	0.00271985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.003	B	0.002	B	0.485	N	0.900	N	0.895	L	2.21	T	-0.975	T	0.025	T	0.166	2.361	13.85	1.84	0.492	0.034	4.490	0.011	0.00765103217098	.	.	0.0005	0	0	0	0	0.0003	0	0.0006	4.53e-05	7	154602	rs776033551	0.0002	0.0002	0.0001	0.0002	0.0018	0.0001	0.0001	0.0009	0.0007	6.787e-05	0	0	0	2.955e-05	0.0018	0.0001	0.0003	0.0007	9.198e-05	9.193e-05	0.0001	8.069e-05	0.0008	5.527e-05	4.364e-05	0.0003	0.0002	0	0	0	0	0	0	0	0.0001	0	0.0008	0.203	0.20154	T	0.088	0.59159	T	0.003	0.11197	B	0.001	0.04355	B	0.484922	0.12123	N	0.755604	0.899664	0.27725	N	0.695	0.17993	N	2.21	0.18414	T	-0.01	0.07155	N	0.248	0.33360	-0.9754	0.36037	T	0.025	0.10509	T	10	0.020850748	0.00488	T	0.007651	0.20299	T	0.011	0.01250	0.241	0.17371	0.0920862733494	0.08535	0.19638091430469784	0.19555	0.543937145229	0.51462	0.510311841965	0.40267	T	0.105286	0.41562	T	-0.489248	0.00656	T	-0.614606	0.11615	T	0.0117068244508373	0.00179	T	.	.	.	0.038526773	0.05150	0.033484872	0.02253	0.038526773	0.05150	0.033484872	0.02252	-5.354	0.40474	T	.	.	0.096	0.17657	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.495202	0.19227	14.16	0.95932447410484756	0.28219	0.13424	0.17848	N	AEFDBCI	0.105097	0.21010	N	-0.839203197824919	0.12316	0.5996221	-0.723520046043165	0.16376	0.8659786	0.999994654760734	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.851219	0.99655	0	0.621717	0.48901	0	.	.	4.94	1.84	0.24348	-0.314000	0.08132	2.142000	0.30851	-0.257000	0.07002	0.002000	0.15269	0.992000	0.31684	0.962000	0.52141	0.1999:0.1861:0.6139:0.0	4.490	0.11222	193	0.92507	.;.;.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	703.98	36	chr17	7393828	.	G	A	703.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.205;DP=787;ExcessHet=0.0000;FS=4.168;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-9.400e-02;SOR=0.955	GT:AD:DP:GQ:PL	0/1:21,27:48:99:718,0,494	20	0	1	0
chr17	7846865	7846865	-	ACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACC:p.P264_L265insPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/5:0,35,0,4,0,23:62:99:2600,974,854,2478,963,2465,2245,805,2231,2169,2478,963,2465,2231,2465,1484,0,1473,1235,1473,1409	0	14	0	0
chr17	7846865	7846865	-	ACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACC:p.P264_L265insPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/5:0,35,0,4,0,23:62:99:2600,974,854,2478,963,2465,2245,805,2231,2169,2478,963,2465,2231,2465,1484,0,1473,1235,1473,1409	0	14	0	0
chr17	7846865	7846865	-	ACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACC:p.P264_L265insP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/5:0,35,0,4,0,23:62:99:2600,974,854,2478,963,2465,2245,805,2231,2169,2478,963,2465,2231,2465,1484,0,1473,1235,1473,1409	0	14	0	0
chr17	7846865	7846865	-	ACCACCACCACC	exonic	KDM6B	.	nonframeshift insertion	KDM6B:NM_001080424:exon9:c.758_759insACCACCACCACC:p.P264_L265insPPPP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	52625.89	54	chr17	7846859	.	TACCACC	TACCACCACCACC,TACCACCACCACCACC,TACCACCACC,T,TACCACCACCACCACCACC	52625.89	.	AC=34,4,2,1,1;AF=0.810,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=1.36;DP=1924;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=NaN;MLEAC=35,4,1,1,1;MLEAF=0.833,0.095,0.024,0.024,0.024;MQ=59.90;MQRankSum=0.00;QD=26.75;ReadPosRankSum=0.709;SOR=0.555	GT:AD:DP:GQ:PL	1/5:0,35,0,4,0,23:62:99:2600,974,854,2478,963,2465,2245,805,2231,2169,2478,963,2465,2231,2465,1484,0,1473,1235,1473,1409	0	14	0	0
chr17	8797460	8797460	G	A	exonic	MFSD6L	.	nonsynonymous SNV	MFSD6L:NM_152599:exon1:c.C1661T:p.S554L,	.	.	423	1078	19	2	0	23	0.0105553	.	.	1222401	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.99	D	0.000	D	0.000	P	2.045	M	-3.67	D	-0.400	T	0.210	T	0.598	3.468	17.76	5.03	2.614	8.692	17.306	0.776	.	0.0027	0.0353435	0.0166	0.0013	0.0014	0.0853	0.0003	0.0030	0.0167	0.0643	0.0151874	2348	154602	rs74899363	0.0093	0.0093	0.0076	0.0110	0.0960	0.0092	0.0091	0.0935	0.0925	0.0008	0.0013	0.0119	0.0960	0.0001	0.0055	0.0028	0.0120	0.0642	0.0074	0.0074	0.0062	0.0086	0.0910	0.0070	0.0069	0.0842	0.0816	0.0010	0	0.0024	0.0133	0.0910	0	0.0034	0.0027	0.0057	0.0684	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.99	0.78936	D	0.000005	0.62929	D	0.000000	8.77062e-07	0.58761	P	2.865	0.83145	M	-3.67	0.95247	D	-3.46	0.67705	D	0.206	0.22870	-0.4002	0.72020	T	0.210	0.56973	T	9	0.008387089	0.00190	T	.	.	.	0.776	0.92501	.	.	.	.	0.33468370261142605	0.33381	0.433029098723	0.43471	0.449397563934	0.31862	T	0.193194	0.54858	T	-0.114371	0.34047	T	0.14979	0.80171	D	0.0235531200911232	0.01090	T	0.69643	0.30590	T	0.6479231	0.75253	0.55815005	0.74439	0.6479231	0.75254	0.55815005	0.74440	-8.647	0.65398	D	.	.	0.176	0.38516	B	.	.	4.447680	0.69110	25.3	0.99906706232731657	0.97726	0.96231	0.68139	D	AEFDBCI	0.896745	0.83813	D	0.680308490086659	0.78343	6.852232	0.612556857862348	0.75850	6.384225	0.999994391301051	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.49644	0.08281	0	0.542086	0.14980	0	.	.	5.03	5.03	0.67015	8.876000	0.92010	6.301000	0.55413	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.615000	0.31768	0.0:0.0:1.0:0.0	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	0.07143	7131.68	34	chr17	8797460	.	G	A	7131.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.978;DP=1155;ExcessHet=0.3300;FS=1.731;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-4.510e-01;SOR=0.644	GT:AD:DP:GQ:PL	0/1:80,84:164:99:2024,0,1909	18	0	3	0
chr17	11558120	11558120	G	A	exonic	SHISA6	.	nonsynonymous SNV	SHISA6:NM_001173461:exon4:c.G1319A:p.R440H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.94	T	0.116	B	0.011	B	0.000	D	0.535	N	0.27	N	.	.	-1.012	T	0.054	T	0.096	0.177	4.955	3.4	1.425	6.129	9.792	0.073	0.00308231130303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs938069258	5.004e-06	4.788e-06	7.053e-06	2.898e-06	0.0004	2.08e-06	1.34e-06	6.161e-05	2.547e-05	0	0	0	0	0	0.0004	4.634e-06	0	0	6.569e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.939	0.04629	T	0.729	0.09795	T	0.116	0.26475	B	0.011	0.15521	B	0.000130	0.49741	D	0.158890	0.535187	0.31458	N	0.525	0.13617	N	.	.	.	-0.52	0.20358	N	0.104	0.08786	-1.0123	0.26196	T	0.054	0.22921	T	9	0.04048109	0.02620	T	0.003082	0.06666	T	0.073	0.21317	0.332	0.31843	0.0611884634855	0.05136	0.4014277891157765	0.40057	.	.	0.383614450693	0.22768	T	0.002214	0.01614	T	-0.260345	0.12860	T	-0.506458	0.21679	T	0.232525557279587	0.22071	T	0.949005	0.81197	D	0.0679768	0.14768	0.049403634	0.07543	0.0679768	0.14768	0.049403634	0.07542	-4.218	0.28051	T	.	.	0.157	0.34775	B	.;.;.	.;.;.	4.446652	0.69084	25.3	0.81834874427927295	0.13883	0.85633	0.44787	D	AEFDBI	0.155605	0.28082	N	-0.313629126650938	0.28629	1.580722	-0.0868065151208946	0.35934	2.084982	5.84743122524078E-5	0.04171	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.72	3.4	0.38031	6.198000	0.72031	8.552000	0.77532	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2466:0.0:0.7534:0.0	9.792	0.39875	657	0.62240	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2038.98	35	chr17	11558120	.	G	A	2038.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.243;DP=963;ExcessHet=0.0000;FS=5.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-1.990e-01;SOR=0.433	GT:AD:DP:GQ:PL	0/1:100,86:186:99:2053,0,2405	20	0	1	0
chr17	11769290	11769290	G	A	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_001372:exon38:c.G7513A:p.V2505M,	.	.	.	.	.	.	.	.	.	.	.	1881216	not_provided|Ciliary_dyskinesia,_primary,_40	MedGen:CN517202|MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.983	D	0.000	D	1.000	D	1.885	L	0.76	T	-0.585	T	0.256	T	0.585	4.219	21.9	4.42	2.696	6.624	15.044	0.258	0.0218419782163	.	.	.	.	.	.	.	.	.	.	.	.	.	rs61744697	2.532e-05	2.668e-05	2.587e-05	2.476e-05	3.058e-05	1.868e-05	1.631e-05	2.201e-05	1.942e-05	0	2.238e-05	0	0	0	0	3.058e-05	3.312e-05	0	1.973e-05	1.97e-05	1.285e-05	2.693e-05	4.413e-05	5.25e-06	2.46e-06	1.172e-05	6.25e-06	0	0	0	0	0	0	0	4.413e-05	0	0	0.001	0.78490	D	.	.	.	1.0	0.90584	D	0.983	0.75793	D	0.000045	0.53742	D	0.072443	0.999383	0.46865	D	2.25	0.63811	M	0.76	0.49919	T	-2.67	0.57599	D	0.769	0.76666	-0.5845	0.65439	T	0.256	0.62654	T	10	0.7352324	0.74574	D	0.021842	0.44662	T	0.258	0.56959	.	.	0.774474433012	0.77239	0.3179891463867298	0.31711	0.347852433776	0.36664	0.746689200401	0.73958	T	0.075061	0.35088	T	-0.0657462	0.42004	T	-0.249351	0.49880	T	0.984724402427673	0.75940	D	0.962504	0.85970	D	0.5966305	0.72510	0.6325674	0.78560	0.5966305	0.72511	0.6325674	0.78561	-8.182	0.62303	D	.	.	0.431	0.61224	A	.;.	.;.	4.649747	0.74108	26.1	0.99897938953681575	0.97048	0.98265	0.81073	D	AEFBI	0.792719	0.72093	D	0.755908847488631	0.83290	7.978672	0.73215705160511	0.84821	8.399915	0.028323419212433	0.13824	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.41	4.42	0.52775	6.844000	0.75184	5.773000	0.49755	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.905000	0.44082	0.0722:0.0:0.9278:0.0	15.044	0.71475	837	0.37933	AAA+ ATPase domain;AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.07143	8001.18	33	chr17	11769290	.	G	A,T	8001.18	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.81;DP=1102;ExcessHet=0.0082;FS=1.185;InbreedingCoeff=0.4474;MLEAC=1,3;MLEAF=0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=17.43;ReadPosRankSum=0.478;SOR=0.568	GT:AD:DP:GQ:PL	1/2:0,102,69:171:99:4744,1889,1583,2855,0,2648	18	0	0	0
chr17	11937502	11937502	G	T	exonic	DNAH9	.	nonsynonymous SNV	DNAH9:NM_004662:exon12:c.G1576T:p.G526C	.	.	419	1079	23	1	0	25	0.0114521	.	.	1587214	not_provided|DNAH9-related_disorder|Ciliary_dyskinesia,_primary,_40	MedGen:C3661900|.|MONDO:MONDO:0032664,MedGen:C4749028,OMIM:618300	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.974	D	0.928	D	0.005	N	1.000	N	4.465	H	2.92	T	-0.700	T	0.155	T	0.349	3.275	16.99	3.9	1.411	6.408	13.420	0.261	0.0493137105476	0.0021	0.00179712	0.0024	0.0005	0.0013	0	0	0.0020	0	0.0083	0.0023027	356	154602	rs144547132	0.0030	0.0030	0.0027	0.0032	0.0114	0.0029	0.0028	0.0092	0.0084	0.0004	0.0013	0.0051	0	1.873e-05	0.0114	0.0029	0.0036	0.0073	0.0020	0.0020	0.0018	0.0021	0.0056	0.0018	0.0017	0.0040	0.0034	0.0007	0	0.0037	0.0040	0	9.42e-05	0.0068	0.0024	0.0052	0.0056	0.002	0.72154	D	0.004	0.74150	D	0.974	0.57829	D	0.928	0.66279	D	0.005051	0.33144	N	0.339387	0.999994	0.08975	N	4.065	0.97128	H	2.92	0.09915	T	-6.01	0.90294	D	0.423	0.52740	-0.6995	0.60462	T	0.155	0.48636	T	10	0.008069009	0.00183	T	0.049314	0.63758	D	0.261	0.57352	.	.	0.650291552413	0.64738	0.514094447207679	0.51332	0.474755460642	0.46659	0.38987326622	0.23652	T	0.241888	0.61051	T	-0.444042	0.01224	T	-0.406607	0.32617	T	0.080413546205679	0.10040	T	0.839916	0.51465	T	0.73322076	0.79906	0.60312414	0.76936	0.745528	0.80611	0.58592963	0.75987	-11.073	0.80057	D	.	.	0.188	0.41783	B	.;.;.	.;.;.	3.387178	0.46878	22.4	0.98877539749797216	0.47754	0.95261	0.64038	D	AEFBI	0.746746	0.68902	D	0.555324367897323	0.70405	5.496964	0.309500935692871	0.56098	3.772689	0.0107041285811074	0.12068	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.564101	0.26826	0	.	.	4.87	3.9	0.44240	5.486000	0.66578	3.807000	0.39893	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.020000	0.11549	0.0759:0.0:0.9241:0.0	13.420	0.60438	635	0.64580	Dynein heavy chain domain;Dynein heavy chain domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1681.98	37	chr17	11937502	.	G	T	1681.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.237;DP=894;ExcessHet=0.0000;FS=6.973;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.960;SOR=0.314	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1696,0,1721	20	0	1	0
chr17	15651512	15651532	TCTGGGCTGGGTGACCCAGAG	-	exonic	TRIM16	.	nonframeshift deletion	TRIM16:NM_006470:exon4:c.78_98del:p.P30_S36del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.678e-05	0.0002	0	0	0	0	0	0	3.84e-05	1	26028	rs762333020	3.423e-06	3.42e-06	2.724e-06	4.129e-06	2.989e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.989e-05	0	0	0	0	0	2.699e-06	0	1.161e-05	4.6e-05	4.597e-05	3.855e-05	5.38e-05	0.0002	2.109e-05	1.527e-05	7.892e-05	5.588e-05	0.0002	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	948.94	41	chr17	15651511	.	ATCTGGGCTGGGTGACCCAGAG	A	948.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=850;ExcessHet=0.0000;FS=0.986;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.424;SOR=0.867	GT:AD:DP:GQ:PL	0/1:53,27:80:99:963,0,2100	20	0	1	0
chr17	17164314	17164314	A	G	exonic	MPRIP	.	nonsynonymous SNV	MPRIP:NM_001364716:exon16:c.A2723G:p.N908S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.992	N	.	.	.	.	-1.028	T	0.083	T	.	-2.504	0.003	3.56	0.427	4.018	6.284	0.091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1436068537	3.908e-05	3.078e-05	3.408e-05	4.428e-05	0.0006	2.979e-05	2.659e-05	0.0003	0.0002	4.095e-05	3.537e-05	0	0.0006	0	0.0002	3.475e-05	4.806e-05	0	3.938e-05	3.937e-05	5.138e-05	2.684e-05	0.0010	1.714e-05	1.128e-05	0.0004	0.0002	0	0	0	0	0.0010	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1058.98	43	chr17	17164314	.	A	G	1058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.729e+00;DP=810;ExcessHet=0.0000;FS=2.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.15;ReadPosRankSum=0.473;SOR=0.413	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1073,0,1394	20	0	1	0
chr17	18038979	18038979	C	T	exonic	ATPAF2	.	nonsynonymous SNV	ATPAF2:NM_145691:exon1:c.G35A:p.G12E,	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, Autosomal recessive	.	1	1514	6	1	0	8	0.00263505	.	.	140172	not_specified|not_provided|Mitochondrial_complex_V_(ATP_synthase)_deficiency,_nuclear_type_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011421,MedGen:C3276276,OMIM:604273,Orphanet:254913	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.27	T	0.866	P	0.578	P	0.000	D	1.000	N	0	N	-1.04	T	-0.885	T	0.090	T	0.497	2.345	13.80	4.69	2.606	1.449	14.822	0.284	.	0.0002	0.00898562	0.0046	0.0001	0.0004	0.0365	0.0105	0.0019	0.0176	0.0024	0.0033764	522	154602	rs149036879	0.0016	0.0016	0.0015	0.0017	0.0266	0.0016	0.0015	0.0253	0.0247	8.969e-05	0.0003	0.0016	0.0266	0.0081	0.0019	0.0004	0.0030	0.0022	0.0022	0.0022	0.0018	0.0026	0.0310	0.0020	0.0019	0.0271	0.0256	9.619e-05	0	0.0014	0.0006	0.0310	0.0084	0.0034	0.0005	0.0033	0.0027	0.379	0.11227	T	0.054	0.47097	T	0.866	0.47610	P	0.578	0.50118	P	0.000218	0.47681	D	0.137680	1	0.08975	N	1.59	0.40313	L	-1.04	0.76819	T	-0.45	0.14782	N	0.281	0.31814	-0.8848	0.49373	T	0.090	0.34573	T	10	0.004758656	0.00101	T	.	.	.	0.284	0.60219	.	.	0.843161948481	0.84166	0.5168452113417248	0.51607	0.439867171488	0.44003	0.626670956612	0.56673	T	0.047755	0.27818	T	-0.348607	0.04816	T	-0.251896	0.49631	T	0.0206251289044633	0.00762	T	0.651335	0.26216	T	0.08036305	0.18411	0.21912912	0.46640	0.07788069	0.17704	0.26778662	0.52640	-9.248	0.69280	D	.	.	0.261	0.49538	B	.;.;.	.;.;.	1.875559	0.23824	16.16	0.8661229084574823	0.16653	0.05393	0.11259	N	ALL	0.102838	0.20619	N	-0.365251241504125	0.26716	1.460164	-0.408930956501561	0.24735	1.35617	0.999999999999912	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	4.69	4.69	0.58546	0.968000	0.28955	1.990000	0.30074	-0.269000	0.06763	0.001000	0.13787	0.005000	0.19230	0.055000	0.15596	0.0:1.0:0.0:0.0	14.822	0.69712	438	0.80235	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	706.98	33	chr17	18038979	.	C	T	706.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.00;DP=743;ExcessHet=0.0000;FS=1.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.67;ReadPosRankSum=-1.560e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:14,26:40:99:721,0,319	20	0	1	0
chr17	18122159	18122159	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon2:c.G3359A:p.R1120H,	Deafness, autosomal recessive 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1038509	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.0	B	.	.	1.000	N	0.55	N	-2.45	D	-0.659	T	0.445	T	0.09	2.621	14.72	-4.38	-0.636	-0.808	12.590	0.167	0.0831248354272	0.0011	0.000599042	0.0003	0.0027	0	0.0002	0	9.127e-05	0	6.058e-05	0.0002458	38	154602	rs200738532	0.0001	0.0001	0.0001	0.0001	0.0015	0.0001	9.641e-05	0.0012	0.0010	0.0015	4.472e-05	0	0.0001	0	0.0002	9.263e-05	0.0001	3.478e-05	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0014	0.0013	0.0017	0	0	0	0.0002	0	0	7.35e-05	0	0	0.003	0.68238	D	0.009	0.66756	D	0.001	0.07471	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.115	0.08564	N	-2.45	0.88847	D	-0.45	0.14782	N	0.131	0.12627	-0.6595	0.62298	T	0.445	0.78142	T	9	0.005762905	0.00128	T	0.083125	0.74047	D	0.167	0.42761	.	.	0.298403945805	0.29456	0.3154629327406427	0.31459	.	.	0.260507017374	0.04951	T	0.006798	0.36652	T	-0.405488	0.02130	T	-0.361708	0.37855	T	0.0516243169796395	0.05782	T	0.765923	0.39354	T	0.054836914	0.10576	0.14627701	0.34660	0.054836914	0.10575	0.14627701	0.34659	-5.067	0.37558	T	0.1151130751147732	0.10263	0.105	0.19235	B	.;.;.	.;.;.	0.936484	0.13117	9.622	0.9783853851932699	0.36312	0.00587	0.02638	N	AEFDBI	0.026133	0.01909	N	-1.34491322087551	0.03178	0.141529	-1.35611090417878	0.03734	0.1747996	0.00100731403297148	0.08115	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	5.08	-4.38	0.03371	-0.497000	0.06509	-0.541000	0.08582	-0.724000	0.03774	0.032000	0.20554	0.000000	0.08366	0.523000	0.29544	0.4805:0.0:0.5194:0.0	12.590	0.55793	248	0.90287	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2965.98	36	chr17	18122159	.	G	A	2965.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.065;DP=1006;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-3.540e-01;SOR=0.724	GT:AD:DP:GQ:PL	0/1:131,122:253:99:2980,0,3293	20	0	1	0
chr17	18155154	18155154	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon45:c.G8269A:p.V2757M,	Deafness, autosomal recessive 3, Autosomal recessive	.	0	1482	37	3	0	43	0.0143	.	.	176616	Autosomal_recessive_nonsyndromic_hearing_loss_3|MYO15A-related_disorder|not_provided|not_specified	MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.242	B	0.105	B	.	.	0.964	D	2.165	M	-2.73	D	-0.124	T	0.531	D	0.157	0.082	4.445	-0.241	0.104	1.276	6.741	0.276	0.258361269117	0.0014	0.00219649	0.0023	0.0004	0.0028	0.0001	0.0005	0.0021	0.0046	0.0058	0.0022186	343	154602	rs140140417	0.0019	0.0019	0.0017	0.0021	0.0147	0.0018	0.0018	0.0122	0.0113	0.0005	0.0024	0.0061	2.519e-05	0.0002	0.0147	0.0016	0.0030	0.0053	0.0016	0.0016	0.0016	0.0015	0.0043	0.0014	0.0014	0.0029	0.0024	0.0004	0	0.0025	0.0046	0.0006	0.0007	0.0136	0.0018	0.0057	0.0043	0.048	0.40068	D	0.134	0.52389	T	0.149	0.27956	B	0.01	0.14941	B	.	.	.	.	0.763895	0.29510	N	1.47	0.36993	L	-2.73	0.90679	D	-2.18	0.49187	N	0.275	0.31140	-0.1236	0.79550	T	0.531	0.82612	D	9	0.0064539015	0.00146	T	0.258361	0.89405	D	0.276	0.59253	.	.	0.600825740518	0.59764	0.4457462142118012	0.44492	.	.	0.419347465038	0.27747	T	0.046696	0.65209	T	-0.342059	0.05246	T	-0.26234	0.48590	T	0.00478396346384637	0.00051	T	0.716728	0.33194	T	0.07735013	0.17550	0.13745384	0.32854	0.06249197	0.13057	0.119086966	0.28744	-6.928	0.53507	T	0.41057589769316	0.50096	0.088	0.11893	B	.;.;.;.;.	.;.;.;.;.	2.035020	0.25866	16.92	0.83213195503592097	0.14603	0.66823	0.33213	D	AEFBI	0.174771	0.30192	N	-0.460585179935102	0.23382	1.255274	-0.505606052839797	0.22000	1.192848	0.996699927236294	0.34934	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.2	-0.241	0.12399	1.130000	0.31007	1.255000	0.25194	0.676000	0.76740	0.834000	0.30193	0.645000	0.25934	0.690000	0.33838	0.2809:0.0:0.5946:0.1245	6.741	0.22626	163	0.93656	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.02381	1642.98	33	chr17	18155154	.	G	A	1642.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.47;DP=844;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.614;SOR=0.713	GT:AD:DP:GQ:PL	0/1:71,62:133:99:1657,0,1769	20	0	1	0
chr17	18971142	18971142	A	G	exonic	SLC5A10	.	nonsynonymous SNV	SLC5A10:NM_001270648:exon7:c.A689G:p.H230R	.	.	422	1096	4	0	0	4	0.00182149	.	.	2347212	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.0	B	0.0	B	0.413	N	1.000	N	0.205	N	-2.27	D	-0.738	T	0.377	T	0.123	2.333	13.76	-3.07	-0.114	0.521	10.167	0.270	0.0128372705209	0.0002	0.000199681	0.0002	0.0002	0	0	0	0.0003	0	0	0.0001423	22	154602	rs199714461	0.0001	0.0001	0.0001	0.0001	0.0054	0.0001	0.0001	0.0039	0.0034	2.987e-05	0.0002	0.0034	0	0	0.0054	2.608e-05	0.0004	2.319e-05	0.0001	0.0001	0.0002	5.372e-05	7.352e-05	8.165e-05	6.722e-05	2.847e-05	1.859e-05	2.406e-05	0	6.533e-05	0.0029	0	0	0.0068	7.352e-05	0	0	0.21	0.31987	T	0.269	0.22828	T	0.0	0.02946	B	0.0	0.01387	B	0.412649	0.04601	N	1.330460	0.999939	0.19363	N	0.345	0.11182	N	-2.27	0.87433	D	-1.07	0.28084	N	0.252	0.31814	-0.7375	0.58581	T	0.377	0.73475	T	10	0.012058705	0.00261	T	0.012837	0.31760	T	0.270	0.58507	.	.	0.195762928549	0.19159	0.640252271029492	0.63960	0.251914101704	0.27763	0.259052067995	0.04779	T	0.029091	0.20925	T	-0.294888	0.09152	T	-0.392063	0.34309	T	0.00414321207235039	0.00044	T	0.658334	0.33361	T	0.051676396	0.09526	0.06651834	0.13637	0.051676396	0.09525	0.06651834	0.13636	-0.236	0.03304	T	.	.	0.056	0.01252	B	.;.;.;.;.	.;.;.;.;.	1.558434	0.19968	14.52	0.90782149240298504	0.20031	0.20243	0.20968	N	AEFGBCI	0.240913	0.36262	N	-0.974804308140899	0.09144	0.4315642	-0.939672995062582	0.11163	0.5670469	0.984000026302463	0.30648	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	5.97	-3.07	0.05038	0.507000	0.22383	0.155000	0.15338	0.749000	0.86810	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.2208:0.5339:0.0:0.2453	10.167	0.42064	819	0.41190	.;.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1546.98	35	chr17	18971142	.	A	G	1546.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.250e-01;DP=852;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.45;ReadPosRankSum=0.322;SOR=0.623	GT:AD:DP:GQ:PL	0/1:81,67:148:99:1561,0,2050	20	0	1	0
chr17	19651620	19651620	C	T	exonic	ALDH3A2	.	nonsynonymous SNV	ALDH3A2:NM_000382:exon2:c.C227T:p.P76L	Sjogren-Larsson syndrome, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.692	P	0.244	B	0.150	N	0.999	N	2.235	M	-0.95	T	-0.541	T	0.367	T	0.299	2.413	14.03	4.55	1.550	0.692	14.926	0.251	0.0401028175033	.	.	2.472e-05	0	0	0	0	1.499e-05	0	0.0001	1.94e-05	3	154602	rs754120524	4.104e-06	4.104e-06	0	8.25e-06	4.637e-05	1.48e-06	9.7e-07	1.583e-05	9.3e-06	0	0	0	0	0	0	1.799e-06	0	4.637e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.40832	D	0.104	0.47097	T	0.49	0.41662	P	0.214	0.38795	B	0.150281	0.17991	N	0.614295	0.999749	0.20516	N	2.535	0.73915	M	-0.95	0.75438	T	-3.96	0.75935	D	0.509	0.54059	-0.5414	0.67110	T	0.367	0.72689	T	10	0.30176142	0.47716	T	0.040103	0.59190	D	0.251	0.56024	0.445	0.50302	0.895981450604	0.89494	0.5835450515123446	0.58283	0.314409667768	0.33727	0.353762984276	0.18475	T	0.310866	0.86968	T	-0.163852	0.26168	T	-0.29161	0.45605	T	0.477710396051407	0.31814	T	0.907509	0.67839	D	0.32434392	0.55004	0.22945112	0.48017	0.32434392	0.55004	0.22945112	0.48016	-6.928	0.53507	T	0.6872018912622236	0.76442	0.137	0.31330	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.173300	0.43041	21.7	0.97139307091369897	0.32534	0.42228	0.26832	N	AEFDBI	0.504303	0.53592	D	-0.00855080460601408	0.41468	2.480873	-0.00275976420071415	0.39591	2.34976	0.999998905047347	0.74766	0.643511	0.44296	0	0.662677	0.63036	0	0.723109	0.80598	0	0.631631	0.49550	0	.	.	5.53	4.55	0.55429	0.617000	0.24053	1.778000	0.28692	0.580000	0.29708	0.000000	0.06391	0.005000	0.19230	0.995000	0.73285	0.144:0.8559:0.0:0.0	14.926	0.70524	735	0.53711	Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain;Aldehyde dehydrogenase domain;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1784.98	35	chr17	19651620	.	C	T	1784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.789;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=-2.300e-02;SOR=0.718	GT:AD:DP:GQ:PL	0/1:69,70:139:99:1799,0,1715	20	0	1	0
chr17	19781088	19781088	C	T	exonic	ULK2	.	nonsynonymous SNV	ULK2:NM_001142610:exon24:c.G2656A:p.V886M	.	.	437	1054	29	2	0	33	0.0154134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.952	D	0.000	D	0.998	D	2.66	M	0.12	T	-0.159	T	0.389	T	0.729	4.525	24.4	4.59	1.346	5.628	13.261	0.347	.	0.0004	0.00479233	0.0025	0.0001	0.0004	0.0001	0	0.0006	0.0023	0.0153	0.0021474	332	154602	rs144113406	0.0013	0.0014	0.0009	0.0018	0.0156	0.0013	0.0013	0.0149	0.0146	0.0001	0.0004	0.0020	7.559e-05	0	0.0080	0.0003	0.0020	0.0156	0.0009	0.0009	0.0007	0.0011	0.0133	0.0007	0.0007	0.0107	0.0097	9.63e-05	0	0.0010	0.0037	0	0	0.0034	0.0005	0.0009	0.0133	0.001	0.78490	D	0.002	0.79402	D	0.997	0.70673	D	0.952	0.69102	D	0.000001	0.62929	D	0.056890	0.997719	0.44125	D	2.84	0.82582	M	0.12	0.61089	T	-2.43	0.53258	N	0.816	0.81162	-0.1587	0.78703	T	0.389	0.74349	T	10	0.013559639	0.00287	T	.	.	.	0.347	0.66863	.	.	0.706734743634	0.70418	0.5337172624296187	0.53296	0.236486782114	0.26189	0.718232274055	0.69789	T	0.545477	0.84513	D	-0.182455	0.23372	T	-0.0231847	0.68819	D	0.0731839727523938	0.09091	T	0.978052	0.92224	D	0.4584746	0.64576	0.49385887	0.70726	0.47474658	0.65581	0.4857415	0.70235	-10.638	0.77636	D	0.6258194583218957	0.69467	0.679	0.72087	P	.;.	.;.	4.457085	0.69330	25.4	0.99887131665444384	0.96204	0.95362	0.64424	D	AEFDBIJ	0.458072	0.50925	N	0.705483667367468	0.79992	7.19652	0.651905145771825	0.78754	6.940084	0.969231725537818	0.29113	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.56	4.59	0.56297	5.748000	0.68333	5.896000	0.50824	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9241:0.0:0.0759	13.261	0.59537	574	0.70151	Serine/threonine-protein kinase, C-terminal;Serine/threonine-protein kinase, 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	0.02381	866.98	35	chr17	19781088	.	C	T	866.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=763;ExcessHet=0.0000;FS=3.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=-3.800e-01;SOR=1.220	GT:AD:DP:GQ:PL	0/1:40,34:74:99:881,0,1021	20	0	1	0
chr17	27647035	27647035	G	T	exonic	LGALS9	.	nonsynonymous SNV	LGALS9:NM_001330163:exon8:c.G579T:p.M193I	.	.	434	1034	53	1	0	55	0.0259067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.001	B	0.006	B	0.706	N	1.000	N	0.55	N	3.85	T	-0.938	T	0.014	T	0.246	0.040	4.220	-2.32	-0.205	-0.270	3.724	0.025	.	0.0028	0.00858626	0.0070	0.0003	0.0029	0.0001	0.0024	0.0043	0.0077	0.0308	0.00641	991	154602	rs61736863	0.0047	0.0047	0.0036	0.0057	0.0307	0.0046	0.0045	0.0298	0.0294	0.0006	0.0030	0.0015	5.038e-05	0.0026	0.0243	0.0030	0.0052	0.0307	0.0037	0.0037	0.0032	0.0042	0.0338	0.0035	0.0034	0.0296	0.0280	0.0006	0	0.0033	0.0014	0	0.0028	0.0204	0.0041	0.0057	0.0338	1.0	0.03787	T	0.515	0.10643	T	0.0	0.02946	B	0.0	0.01387	B	0.705616	0.10057	N	0.874683	1	0.08975	N	0.805	0.20218	L	2.88	0.10291	T	-0.92	0.30555	N	0.087	0.10198	-0.9379	0.42947	T	0.014	0.05561	T	10	0.007870913	0.00179	T	.	.	.	0.025	0.05312	0.396	0.42262	0.117506650769	0.11410	0.21356275858387824	0.21272	0.428623133953	0.43178	0.377718806267	0.21933	T	0.057428	0.30565	T	-0.608484	0.00129	T	-0.623824	0.10888	T	0.00143451320405818	0.00014	T	0.717128	0.38135	T	0.24168785	0.47088	0.09407839	0.22253	0.24168785	0.47088	0.09407839	0.22252	-3.734	0.19821	T	.	.	0.213	0.49903	B	.;.;.;.;.	.;.;.;.;.	0.027789	0.04477	1.192	0.7052755038938161	0.09325	0.04884	0.10627	N	AEFDBI	0.042672	0.06650	N	-1.07995783123573	0.07013	0.324544	-1.1025804986439	0.07651	0.3729923	0.189229202955983	0.17978	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.683762	0.67416	0	.	.	4.31	-2.32	0.06360	-0.410000	0.07214	-2.454000	0.03734	0.612000	0.49041	0.191000	0.24200	0.000000	0.08366	0.026000	0.12556	0.5182:0.0:0.299:0.1828	3.724	0.07996	253	0.90069	Galectin, carbohydrate recognition domain;Galectin, carbohydrate recognition 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	0.07143	11075.68	35	chr17	27647035	.	G	T	11075.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.540e-01;DP=1598;ExcessHet=0.3300;FS=0.524;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.99;MQRankSum=0.00;QD=11.71;ReadPosRankSum=0.147;SOR=0.745	GT:AD:DP:GQ:PL	0/1:159,136:295:99:3699,0,4169	18	0	3	0
chr17	28573806	28573806	C	A	exonic	ALDOC	.	nonsynonymous SNV	ALDOC:NM_005165:exon8:c.G928T:p.A310S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.835	P	0.612	P	0.000	D	1.000	D	2.375	M	-2.08	D	0.573	D	0.719	D	0.565	4.828	27.4	5.46	2.573	7.818	18.081	0.707	0.124753547716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.045	0.49390	D	0.835	0.46254	P	0.612	0.51145	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.525	0.93020	H	-2.08	0.86010	D	-1.52	0.40468	N	0.636	0.66873	0.573	0.91540	D	0.719	0.90368	D	10	0.6705802	0.70688	D	0.124754	0.80616	D	0.707	0.89514	0.687	0.82462	0.834950330142	0.83337	0.6543212693654827	0.65368	1.13268092877	0.78672	0.735446333885	0.72303	T	0.343928	0.94791	T	0.182694	0.72290	D	0.0246509	0.71931	D	0.964805245399475	0.67070	D	0.946505	0.79612	D	0.8404499	0.86640	0.7774078	0.86870	0.8404499	0.86641	0.7774078	0.86871	-7.603	0.58332	D	.	.	0.26	0.49470	B	.;.;.	.;.;.	3.981378	0.58534	24.0	0.99735477746767009	0.83119	0.99028	0.90173	D	AEFBI	0.962194	0.98371	D	0.511578215888401	0.67774	5.126629	0.583718578075741	0.73772	6.025599	0.999999999999972	0.74766	0.706298	0.61202	0	0.697927	0.68747	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.46	5.46	0.80021	7.905000	0.86479	7.722000	0.67351	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	18.081	0.89370	267	0.89517	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1229.98	41	chr17	28573806	.	C	A	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.019e+00;DP=802;ExcessHet=0.0000;FS=1.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-9.960e-01;SOR=0.527	GT:AD:DP:GQ:PL	0/1:42,50:92:99:1244,0,1222	20	0	1	0
chr17	28628319	28628319	G	A	exonic	KIAA0100	.	nonsynonymous SNV	KIAA0100:NM_001363826:exon23:c.C4111T:p.P1371S	.	.	419	1090	12	1	0	14	0.00638104	.	.	2811169	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.164	B	0.04	B	0.000	D	1.000	D	1.39	L	1.95	T	-1.094	T	0.032	T	0.183	2.064	12.86	5.41	2.549	3.582	15.084	0.043	0.00893461352932	0.0055	0.00119808	0.0047	0.0009	0.0013	0	0.0006	0.0078	0.0022	0.0011	0.0049482	765	154602	rs61743603	0.0067	0.0067	0.0067	0.0066	0.0078	0.0066	0.0065	0.0077	0.0076	0.0011	0.0021	0.0173	0	0.0011	0.0064	0.0078	0.0057	0.0007	0.0054	0.0054	0.0058	0.0051	0.0080	0.0051	0.0050	0.0075	0.0073	0.0011	0.1261	0.0029	0.0153	0	0.0008	0.0068	0.0080	0.0038	0.0004	0.091	0.33091	T	0.326	0.18789	T	0.164	0.28467	B	0.04	0.23831	B	0.000047	0.53742	D	0.168027	0.999713	0.51042	D	0.49	0.13296	N	1.95	0.22474	T	-1.21	0.30762	N	0.194	0.21319	-1.0944	0.04839	T	0.032	0.13679	T	10	0.0030865073	0.00051	T	0.008935	0.23535	T	0.043	0.11576	.	.	0.441324992753	0.43756	0.4061274438181041	0.40528	0.210862529731	0.23587	0.336153447628	0.15861	T	0.003711	0.06413	T	-0.551691	0.00285	T	-0.554211	0.16924	T	0.0223315727085183	0.00946	T	0.79922	0.44465	T	0.040861025	0.05912	0.06266524	0.12295	0.040861025	0.05912	0.06266524	0.12294	-2.988	0.10052	T	.	.	0.063	0.01408	B	.;.;.	.;.;.	2.193887	0.27977	17.64	0.99046071937428815	0.51140	0.98362	0.82008	D	AEFDBI	0.588541	0.58577	D	-0.118278019372548	0.36596	2.11754	0.0271024737614044	0.40977	2.454268	0.999997316058365	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	1.400000	0.34186	1.487000	0.26862	0.672000	0.70159	0.974000	0.34632	0.981000	0.30433	0.699000	0.34110	0.0:0.1831:0.8169:0.0	15.084	0.71805	225	0.91282	.;.;.	.	.	.	.	.	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	0.02381	1253.98	41	chr17	28628319	.	G	A	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.658e+00;DP=817;ExcessHet=0.0000;FS=9.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.17;ReadPosRankSum=1.19;SOR=0.455	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1268,0,1338	20	0	1	0
chr17	28683349	28683349	C	A	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon16:c.C1960A:p.L654I	.	.	427	1079	15	1	0	17	0.00781609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.988	D	0.695	P	0.000	D	1.000	D	1.735	L	-0.17	T	-0.518	T	0.307	T	0.79	3.283	17.02	5.21	2.708	2.759	18.934	0.254	0.0168656344412	0.0004	0.000798722	0.0007	0.0002	0.0003	0	0	0.0006	0.0011	0.0027	0.0006986	108	154602	rs141330818	0.0005	0.0005	0.0004	0.0006	0.0057	0.0005	0.0005	0.0042	0.0037	8.961e-05	8.944e-05	0.0003	0	5.616e-05	0.0057	0.0003	0.0010	0.0029	0.0006	0.0007	0.0006	0.0007	0.0033	0.0005	0.0005	0.0021	0.0017	9.625e-05	0.0307	0.0003	0.0003	0	0	0	0.0006	0.0009	0.0033	0.218	0.19090	T	0.246	0.23984	T	0.988	0.62325	D	0.695	0.53983	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.455	0.71248	M	-0.17	0.65563	T	-1.42	0.34992	N	0.85	0.84609	-0.5180	0.67989	T	0.307	0.67795	T	10	0.024487287	0.00675	T	0.016866	0.38326	T	0.254	0.56428	.	.	0.518009022472	0.51444	0.5230107651206027	0.52224	1.61380097712	0.88956	0.765939176083	0.76815	T	0.353115	0.72045	T	-0.172335	0.24881	T	-0.0236881	0.68787	D	0.127058178186417	0.15108	T	0.90061	0.65471	D	0.2382516	0.46701	0.21226041	0.45688	0.2382516	0.46701	0.21226041	0.45687	-10.15	0.74805	D	.	.	0.291	0.52227	B	.;.	.;.	3.760351	0.53956	23.4	0.99350505468094485	0.60574	0.93490	0.58359	D	AEFBCI	0.602556	0.59437	D	0.519913176184342	0.68268	5.193882	0.528584493479893	0.69923	5.429898	0.934179830466613	0.27159	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.21	5.21	0.72005	2.791000	0.47520	5.996000	0.52409	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	18.934	0.92551	252	0.90114	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1384.98	43	chr17	28683349	.	C	A	1384.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.170e-01;DP=1122;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=-9.200e-01;SOR=0.702	GT:AD:DP:GQ:PL	0/1:60,56:116:99:1399,0,1539	20	0	1	0
chr17	28695437	28695437	T	C	exonic	SUPT6H	.	nonsynonymous SNV	SUPT6H:NM_003170:exon29:c.T3860C:p.M1287T	.	.	.	.	.	.	.	.	.	.	.	2757554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.006	B	0.006	B	0.000	D	1.000	D	1.245	L	.	.	-0.901	T	0.183	T	0.793	1.216	9.935	5.8	2.209	3.807	16.144	0.300	0.00274179428195	.	.	4.14e-05	0	0	0	0	6.021e-05	0	6.082e-05	3.88e-05	6	154602	rs765884890	6.088e-05	6.088e-05	5.309e-05	6.875e-05	0.0009	5.028e-05	4.671e-05	0.0003	0.0002	2.987e-05	0	3.826e-05	0	0	0.0009	6.745e-05	3.311e-05	5.797e-05	6.573e-05	6.568e-05	7.71e-05	5.382e-05	0.0001	3.518e-05	2.617e-05	7.908e-05	5.994e-05	0	0	0	0	0	0	0	0.0001	0	0	0.577	0.06049	T	0.493	0.11443	T	0.006	0.13644	B	0.006	0.12133	B	0.000000	0.84330	D	0.109676	0.999993	0.58761	D	1.355	0.33814	L	.	.	.	-1.31	0.32791	N	0.609	0.62611	-0.9011	0.47878	T	0.183	0.53179	T	9	0.16812873	0.31347	T	0.002742	0.05665	T	0.300	0.62068	0.445	0.50302	0.337947466952	0.33407	0.6474518780151852	0.64680	1.00554430503	0.74571	0.882410049438	0.94283	D	0.127029	0.45380	T	-0.0150727	0.49552	T	0.0098724	0.70974	D	0.0602771352881724	0.07212	T	0.931307	0.74459	D	0.35671076	0.57585	0.32667407	0.58572	0.35671076	0.57585	0.32667407	0.58571	-7.724	0.59174	D	.	.	0.152	0.34004	B	.;.	.;.	2.886515	0.38214	20.7	0.82695063175861272	0.14326	0.90586	0.51885	D	AEFGBCI	0.545784	0.56016	D	-0.0660358931565085	0.38889	2.284709	0.139567390774084	0.46592	2.902705	0.999914244526547	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.8	5.8	0.92081	3.793000	0.55188	7.939000	0.75402	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.144	0.81367	198	0.92335	.;.	.	.	.	.	.	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	0.02381	1628.98	33	chr17	28695437	.	T	C	1628.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.278e+00;DP=861;ExcessHet=0.0000;FS=1.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.51;ReadPosRankSum=-6.820e-01;SOR=0.591	GT:AD:DP:GQ:PL	0/1:86,69:155:99:1643,0,2276	20	0	1	0
chr17	35193947	35193947	C	T	exonic	SLC35G3	.	nonsynonymous SNV	SLC35G3:NM_152462:exon1:c.G361A:p.A121T,	.	.	421	1085	16	0	0	16	0.0073193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.955	P	0.698	P	0.000	D	0.545	D	0.805	L	-1.1	T	-0.539	T	0.290	T	0.131	2.418	14.04	.	0.064	2.497	2.836	0.308	.	7.7e-05	0.00139776	0.0017	9.612e-05	0.0002	0.0001	0.0003	0.0004	0.0055	0.0105	0.0013907	215	154602	rs369083234	0.0009	0.0009	0.0005	0.0013	0.0114	0.0008	0.0008	0.0108	0.0106	5.975e-05	4.473e-05	0.0001	5.038e-05	0.0002	0.0035	0.0002	0.0011	0.0114	0.0005	0.0005	0.0002	0.0007	0.0093	0.0004	0.0003	0.0072	0.0064	0	0	0.0001	0	0.0002	0	0	0.0003	0.0005	0.0093	0.007	0.59928	D	0.023	0.57104	D	0.955	0.54515	P	0.698	0.54098	P	0.000229	0.47286	D	0.000000	0.544808	0.32084	D	1.79	0.46772	L	-1.1	0.77336	T	-1.54	0.37375	N	0.116	0.10483	-0.5393	0.67189	T	0.290	0.66201	T	9	0.011025786	0.00243	T	.	.	.	0.308	0.62947	.	.	0.671645247499	0.66887	0.5510402047279102	0.55030	0.44787081449	0.44639	0.494213670492	0.38024	T	0.037995	0.24681	T	-0.442901	0.01243	T	-0.399578	0.33432	T	0.0881991596123175	0.11002	T	0.79482	0.43725	T	0.0939453	0.22076	0.11235517	0.27110	0.0939453	0.22075	0.11235517	0.27109	-7.82	0.59837	D	.	.	0.131	0.28116	B	.	.	2.891714	0.38301	20.7	0.987620623018863	0.45831	0.08612	0.14517	N	AEFI	0.080430	0.16261	N	-0.404565427932355	0.25309	1.372915	-0.602053304007781	0.19440	1.043019	1.87457985573571E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	.	.	.	2.233000	0.42672	4.864000	0.45499	0.088000	0.17592	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.4983:0.5012:2.0E-4:3.0E-4	2.836	0.05174	919	0.19497	EamA 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	0.04762	6968.11	36	chr17	35193947	.	C	T	6968.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.440e-01;DP=1303;ExcessHet=0.1072;FS=1.097;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.25;MQRankSum=0.621;QD=11.97;ReadPosRankSum=0.442;SOR=0.811	GT:AD:DP:GQ:PL	0/1:214,210:424:99:5207,0,5525	19	0	2	0
chr17	36510746	36510746	C	T	exonic	MYO19	.	nonsynonymous SNV	MYO19:NM_001163735:exon13:c.G1157A:p.R386Q	.	.	.	.	.	.	.	.	.	1.0000	0.996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.993	D	0.69	P	0.002	N	1.000	D	2.145	M	-2.49	D	0.217	D	0.671	D	0.214	4.074	20.9	3.9	0.830	2.257	6.516	0.468	0.0319522017652	.	0.000199681	3.153e-05	0	0	0.0002	0	2.801e-05	0	0	2.59e-05	4	154602	rs562420156	9.669e-06	1.368e-05	5.481e-06	1.392e-05	5.109e-05	5.61e-06	4.39e-06	8.47e-06	3.17e-06	0	0	0	5.109e-05	0	0	7.247e-06	3.348e-05	2.378e-05	1.313e-05	1.312e-05	0	2.687e-05	0.0002	2.18e-06	8.2e-07	.	.	2.406e-05	0	0	0	0.0002	0	0	0	0	0	.	.	.	0.185	0.55341	T	0.993	0.65571	D	0.69	0.53781	P	0.001598	0.38554	N	0.000000	0.997984	0.44386	D	1.79	0.46772	L	.	.	.	.	.	.	0.319	0.35938	0.217	0.86200	D	0.671	0.88613	D	9	0.3066099	0.48170	T	0.031952	0.53903	D	.	.	0.729	0.86286	0.34854441366	0.34469	0.22149928116577206	0.22064	.	.	0.25506824255	0.04321	T	0.31161	0.68348	T	-0.114133	0.34087	T	-0.40172	0.33183	T	0.26005956530571	0.23317	T	.	.	.	0.06740259	0.14594	0.12351603	0.29782	0.06740259	0.14594	0.12351603	0.29781	-6.724	0.51991	T	.	.	0.074	0.15654	B	.;.	.;.	4.251762	0.64538	24.7	0.99871800792254484	0.94902	0.63825	0.32210	D	AEFDBHCI	0.181974	0.30929	N	0.090172139576721	0.46004	2.847712	-0.015606891363096	0.39009	2.306569	0.0402072300491118	0.14429	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.88	3.9	0.44240	2.355000	0.43761	1.449000	0.26590	0.599000	0.40250	1.000000	0.71638	0.872000	0.27604	0.107000	0.18608	0.1371:0.6591:0.1321:0.0717	6.516	0.21443	581	0.69614	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XIX myosin, motor domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1286.98	35	chr17	36510746	.	C	T	1286.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.340;DP=859;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=1.10;SOR=0.718	GT:AD:DP:GQ:PL	0/1:36,52:88:99:1301,0,793	20	0	1	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.796	P	0.741	P	0.000	D	1.000	D	1.91	M	-1.57	D	0.107	D	0.637	D	0.898	4.574	24.8	5.93	2.826	7.818	19.342	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;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	12960.74	97	chr17	37257713	.	C	T	12960.74	.	AC=21;AF=0.500;AN=42;BaseQRankSum=0.586;DP=2083;ExcessHet=54.0936;FS=453.130;InbreedingCoeff=-1.0000;MLEAC=21;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=6.37;ReadPosRankSum=-7.710e-01;SOR=14.039	GT:AD:DP:GQ:PL	0/1:38,44:82:99:437,0,356	0	0	21	0
chr17	38343162	38343162	C	T	exonic	GPR179	.	nonsynonymous SNV	GPR179:NM_001004334:exon1:c.G628A:p.G210S,	Night blindness, congenital stationary (complete), 1E, autosomal recessive, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	877386	Congenital_stationary_night_blindness_1E|not_provided	MONDO:MONDO:0013807,MedGen:C3281215,OMIM:614565,Orphanet:215|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.04	D	0.487	P	0.015	B	0.259	N	1.000	N	1.5	L	0.79	T	-1.074	T	0.055	T	0.059	2.244	13.46	-0.816	-0.138	2.255	6.409	0.098	.	0.0040	0.0061901	0.0013	0.0154	0.0007	0	0	0	0	0	0.0014036	217	154602	rs148060036	0.0004	0.0004	0.0005	0.0004	0.0147	0.0004	0.0004	0.0137	0.0132	0.0147	0.0009	0	2.519e-05	0	0.0003	2.158e-05	0.0008	8.115e-05	0.0043	0.0043	0.0044	0.0042	0.0153	0.0040	0.0039	0.0143	0.0139	0.0153	0	0.0008	0	0	0	0	2.941e-05	0.0033	0	.	.	.	0.255	0.23365	T	.	.	.	.	.	.	0.259234	0.15348	N	0.634365	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.273	0.30914	-1.0736	0.08639	T	0.055	0.23072	T	10	0.006880194	0.00156	T	.	.	.	.	.	.	.	0.0551355673512	0.04727	0.39266084561367626	0.39181	.	.	0.279662907124	0.07445	T	.	.	.	-0.60399	0.00138	T	-0.627393	0.10614	T	0.0213549353818406	0.00838	T	0.757524	0.38090	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21049	B	.;.	.;.	1.535168	0.19691	14.39	0.98099204983286037	0.38254	0.90591	0.51894	D	AEFGBI	0.337949	0.43558	N	-0.381474848933441	0.26130	1.423691	-0.407906605021664	0.24765	1.357992	0.00310497744140878	0.09929	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.95	-0.816	0.10292	2.332000	0.43561	0.240000	0.16296	0.599000	0.40250	0.939000	0.32602	0.000000	0.08366	0.752000	0.35857	0.0:0.5484:0.2483:0.2032	6.409	0.20883	177	0.93145	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2500.98	34	chr17	38343162	.	C	T	2500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=1037;ExcessHet=0.0000;FS=1.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.67;ReadPosRankSum=0.076;SOR=0.846	GT:AD:DP:GQ:PL	0/1:90,93:185:99:2515,0,2268	20	0	1	0
chr17	38674288	38674288	G	C	exonic	EPOP	.	nonsynonymous SNV	EPOP:NM_001130677:exon1:c.C208G:p.L70V,	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.906	P	0.418	B	.	.	0.997	N	0.695	N	.	.	-1.066	T	0.046	T	0.181	3.896	19.81	1.32	0.090	0.777	4.931	0.039	.	.	0.00299521	.	.	.	.	.	.	.	.	0.0008452	22	26028	rs541031175	0.0002	0.0002	0.0002	0.0002	0.0080	0.0002	0.0002	0.0072	0.0069	0.0080	0.0002	0	0	0	0.0005	5.607e-06	0.0005	1.305e-05	0.0024	0.0024	0.0027	0.0021	0.0084	0.0022	0.0021	0.0077	0.0074	0.0084	0	0.0002	0	0	0	0	1.473e-05	0.0028	0	.	.	.	0.598	0.07999	T	0.906	0.49993	P	0.418	0.45020	B	.	.	.	.	0.996875	0.22872	N	.	.	.	.	.	.	.	.	.	0.059	0.03069	-1.0658	0.10362	T	0.046	0.19599	T	8	0.003448844	0.00061	T	.	.	.	.	.	.	.	0.104622674875	0.10061	0.05701012719120225	0.05642	.	.	.	.	.	0.009157	0.08356	T	-0.480247	0.00737	T	-0.456079	0.27028	T	0.0218783184136125	0.00896	T	.	.	.	0.03270835	0.03348	0.08338729	0.19106	0.03270835	0.03348	0.08338729	0.19106	-4.982	0.36644	T	.	.	0.109	0.20780	B	.	.	2.350663	0.30139	18.34	0.99602608146133431	0.74278	0.41794	0.26736	N	AEFDGBHCI	0.062972	0.12139	N	-0.346921747503724	0.27386	1.502083	-0.411483002497527	0.24660	1.351642	0.999933886900258	0.46732	0.652421	0.48094	0	0.748881	0.99253	0	0.619478	0.44681	0	0.56751	0.32155	0	.	.	3.48	1.32	0.20897	0.944000	0.28641	3.299000	0.37367	0.566000	0.28629	0.612000	0.27847	1.000000	0.68203	0.580000	0.30894	0.1296:0.2173:0.6531:0.0	4.931	0.13271	538	0.73119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	527.98	34	chr17	38674288	.	G	C	527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.099e+00;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.54;ReadPosRankSum=-4.820e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:17,22:39:99:542,0,466	20	0	1	0
chr17	39744611	39744611	C	T	exonic	GRB7	.	nonsynonymous SNV	GRB7:NM_001030002:exon8:c.C860T:p.T287M	.	.	.	.	.	.	.	.	.	.	.	727139	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	1.0	D	0.999	D	0.000	D	0.997	D	1.955	M	-1.05	T	-0.218	T	0.347	T	0.567	3.160	16.57	5.5	2.575	3.674	18.985	0.323	.	0.0065	0.0101837	0.0027	0.0289	0.0023	0	0	4.12e-05	0	0.0002	0.0020504	317	154602	rs79432284	0.0007	0.0007	0.0008	0.0006	0.0232	0.0007	0.0007	0.0218	0.0213	0.0232	0.0017	0	5.058e-05	0	0.0005	9.361e-05	0.0016	5.826e-05	0.0067	0.0067	0.0070	0.0064	0.0227	0.0064	0.0062	0.0215	0.0210	0.0227	0	0.0039	0	0	0	0	0.0001	0.0028	0.0004	0.193	0.28148	T	0.047	0.52727	D	0.998	0.90584	D	0.96	0.92359	D	0.000054	0.53742	D	0.169567	0.997458	0.43901	D	2.045	0.56016	M	-1.05	0.76690	T	0.25	0.04456	N	0.473	0.53620	-0.2181	0.77201	T	0.347	0.71186	T	10	0.008646578	0.00196	T	.	.	.	0.323	0.64522	.	.	0.932822406839	0.93213	0.276350330489679	0.27548	0.662654156328	0.58988	0.55078125	0.45967	T	0.321665	0.69274	T	-0.279198	0.10753	T	-0.156239	0.58688	T	0.0284050449120883	0.01747	T	0.79772	0.45944	T	0.035942208	0.04325	0.0768962	0.17078	0.035942208	0.04325	0.0768962	0.17078	-7.401	0.56912	T	.	.	0.088	0.12276	B	.;.;.;.;.	.;.;.;.;.	4.338359	0.66532	25.0	0.99830153211514017	0.91198	0.90388	0.51524	D	AEFGBHI	0.485236	0.52491	N	0.56537200918401	0.71023	5.588301	0.535529810861277	0.70396	5.499252	0.999997909407312	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.550183	0.17644	0	.	.	5.5	5.5	0.81386	3.764000	0.54977	5.975000	0.52067	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.798000	0.37648	0.0:1.0:0.0:0.0	18.985	0.92742	596	0.68392	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain|APBB1IP, PH 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	0.02381	1858.98	38	chr17	39744611	.	C	T	1858.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=907;ExcessHet=0.0000;FS=4.320;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.10;ReadPosRankSum=1.38;SOR=0.455	GT:AD:DP:GQ:PL	0/1:107,77:184:99:1873,0,2567	20	0	1	0
chr17	40751280	40751280	T	G	exonic	KRT25	.	nonsynonymous SNV	KRT25:NM_181534:exon4:c.A716C:p.E239A,	Woolly hair, autosomal recessive 3, Autosomal recessive	.	422	1044	55	1	0	57	0.0265734	.	.	727159	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	0.994	D	0.856	P	0.000	D	1.000	D	3.5	M	-3.07	D	0.857	D	0.856	D	0.9	4.759	26.7	5.69	2.166	7.670	15.951	0.915	.	0.0024	0.00678914	0.0065	0.0005	0.0022	0	0.0002	0.0039	0.0155	0.0299	0.0058408	903	154602	rs140952603	0.0041	0.0041	0.0032	0.0050	0.0281	0.0040	0.0040	0.0271	0.0268	0.0006	0.0027	0.0212	2.519e-05	0.0002	0.0160	0.0022	0.0067	0.0281	0.0032	0.0032	0.0032	0.0033	0.0259	0.0030	0.0029	0.0222	0.0208	0.0007	0	0.0032	0.0210	0.0002	9.416e-05	0.0136	0.0029	0.0052	0.0259	0.009	0.57480	D	0.01	0.65728	D	0.994	0.66517	D	0.856	0.61001	P	0.000003	0.62929	D	0.000000	0.999986	0.54805	D	3.185	0.88900	M	-3.07	0.92508	D	-4.74	0.80172	D	0.778	0.77507	0.857	0.95118	D	0.856	0.95207	D	10	0.014849842	0.00312	T	.	.	.	0.915	0.97776	.	.	0.907232427097	0.90630	0.5908904248978321	0.59019	0.357179526398	0.37446	0.766265451908	0.76864	T	0.855056	0.96735	D	0.106668	0.65005	D	0.402757	0.92200	D	0.0278956772931231	0.01672	T	0.939106	0.77081	D	0.72704566	0.79557	0.685939	0.81532	0.71058583	0.78641	0.685939	0.81533	-9.103	0.68356	D	0.4875176608797725	0.56501	0.343	0.56131	A	.	.	5.055516	0.84232	28.3	0.99725033447456402	0.82336	0.99646	0.98304	D	AEFDBI	0.906088	0.85842	D	0.894473073577859	0.91486	10.90823	0.836516895162688	0.92204	11.29381	0.99995466475536	0.48110	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.69	5.69	0.88346	7.601000	0.82027	7.848000	0.70832	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0:0.0:1.0	15.951	0.79619	60	0.97424	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2116.98	37	chr17	40751280	.	T	G	2116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=932;ExcessHet=0.0000;FS=0.535;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-1.109e+00;SOR=0.748	GT:AD:DP:GQ:PL	0/1:112,87:199:99:2131,0,2976	20	0	1	0
chr17	41041286	41041286	G	0	exonic	KRTAP1-1	.	.	.	.	.	423	643	441	0	15	456	0.255356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3885.87	242	chr17	41041286	.	G	T,*	3885.87	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=2.73;DP=3812;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=59.30;MQRankSum=-1.165e+01;QD=1.29;ReadPosRankSum=4.68;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:249,25,0:274:99:0|1:41041286_G_T:300,0,10016,1050,10091,11141:41041286	10	0	10	0
chr17	41041297	41041297	G	0	exonic	KRTAP1-1	.	.	.	.	.	0	91	122	0	13	135	0.401316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2306.36	255	chr17	41041297	.	G	*,C	2306.36	.	AC=1,9;AF=0.025,0.225;AN=40;BaseQRankSum=2.19;DP=3862;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3496;MLEAC=1,10;MLEAF=0.025,0.250;MQ=59.29;MQRankSum=-1.141e+01;QD=0.84;ReadPosRankSum=4.87;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:248,0,25:273:99:0|1:41041286_G_T:304,1050,11052,0,10002,9927:41041286	10	0	1	1
chr17	41041341	41041341	G	0	exonic	KRTAP1-1;KRTAP9-7	.	.	.	.	.	423	805	280	0	14	294	0.148148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	2496.32	253	chr17	41041341	.	G	T,*	2496.32	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.535;DP=3198;ExcessHet=3.5521;FS=0.766;InbreedingCoeff=-0.2364;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.31;MQRankSum=-1.146e+01;QD=1.14;ReadPosRankSum=-1.843e+00;SOR=0.561	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:254,24,0:278:99:0|1:41041341_G_T:125,0,9962,889,10034,10923:41041341	13	0	7	0
chr17	41255418	41255418	-	ACATGCTGCAGGACC	exonic	KRTAP9-9	.	nonframeshift insertion	KRTAP9-9:NM_030975:exon1:c.33_34insACATGCTGCAGGACC:p.C18_W19insCRTTC,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0.0003	0.0004	0	0.0002	0	0.0016	.	.	.	.	0.0001	0.0001	0.0001	0.0002	0.0006	0.0001	0.0001	0.0005	0.0004	0	9.887e-05	0	0.0006	0	0.0003	9.047e-05	0.0002	0.0006	0.0003	0.0002	0.0002	0.0004	0.0009	0.0002	0.0002	0.0003	0.0003	9.301e-05	0	0	0	0	0	0	0.0006	0	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	31242.72	98	chr17	41255418	.	T	TACCTGCTGCAGGACC,TACATGCTGCAGGACC	31242.72	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.14;DP=2539;ExcessHet=0.0001;FS=5.599;InbreedingCoeff=0.7311;MLEAC=26,1;MLEAF=0.619,0.024;MQ=52.57;MQRankSum=-1.273e+00;QD=33.81;ReadPosRankSum=-3.744e+00;SOR=1.018	GT:AD:DP:GQ:PL	1/1:0,48,0:48:99:2115,139,0,2120,144,2126	6	11	3	0
chr17	41382308	41382308	A	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.T65C:p.L22P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.976	D	0.556	P	.	.	0.999	D	0	N	.	.	-1.043	T	0.078	T	0.65	0.858	8.471	5.17	2.241	1.916	5.942	0.134	0.018428726593	.	.	8.238e-06	0	0	0	0	0	0.0011	0	7.76e-05	12	154602	rs756013781	5.481e-06	0.0003	8.182e-06	2.754e-06	2.236e-05	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	2.236e-05	0	0	0	0	5.403e-06	1.659e-05	0	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	.	.	.	0.003	0.76473	D	0.976	0.58310	D	0.556	0.49411	P	.	.	.	.	0.999455	0.47118	D	1.245	0.31408	L	-1.89	0.84557	D	.	.	.	0.669	0.67736	-1.0427	0.16503	T	0.078	0.31042	T	8	0.66327584	0.70279	D	0.018429	0.40491	T	.	.	0.428	0.47515	0.761221526906	0.75905	0.03657958571385173	0.03604	0.342438391368	0.36184	0.435077399015	0.29903	T	0.021796	0.16915	T	0.121469	0.66520	D	-0.0632948	0.66101	T	0.91840136051178	0.57665	D	0.333767	0.07077	T	0.1847125	0.39799	0.32490122	0.58410	0.1847125	0.39799	0.32490122	0.58410	-3.974	0.23413	T	.	.	0.079	0.07130	B	.	.	1.715876	0.21849	15.37	0.98901740872576172	0.48199	0.67040	0.33290	D	AEFDBCI	0.211856	0.33761	N	0.136755772330337	0.48185	3.034055	0.188891208117852	0.49238	3.129369	0.733449985707655	0.23090	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	5.17	0.70848	1.869000	0.39156	2.221000	0.31450	0.660000	0.55035	0.999000	0.42656	1.000000	0.68203	0.332000	0.25247	0.7462:0.1678:0.086:0.0	5.942	0.18435	167	0.93508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	515.5	33	chr17	41382308	.	A	G	515.5	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.707e+00;DP=1692;ExcessHet=2.5830;FS=114.231;InbreedingCoeff=-0.1984;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.52;ReadPosRankSum=0.774;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:136,24:160:25:0|1:41382308_A_G:25,0,5002:41382308	14	0	7	0
chr17	41382311	41382311	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62C:p.R21T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.049	B	0.026	B	.	.	0.998	N	0	N	.	.	-1.026	T	0.039	T	0.473	0.716	7.813	-0.174	0.122	-0.215	4.436	0.084	0.00843288255634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.114e-05	0.0014	3.86e-05	2.362e-05	3.828e-05	2.374e-05	2.119e-05	2.866e-05	2.541e-05	0	0	3.836e-05	2.523e-05	0	0	3.828e-05	0	1.165e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.28764	T	0.049	0.22227	B	0.026	0.20792	B	.	.	.	.	0.997716	0.22540	N	0.755	0.19153	N	-1.61	0.82254	D	.	.	.	0.508	0.53972	-1.0258	0.21821	T	0.039	0.16892	T	8	0.18996203	0.34618	T	0.008433	0.22307	T	.	.	0.37	0.38013	0.612421581757	0.60929	0.08565298375764323	0.08499	0.0546681382285	0.06050	0.306222051382	0.11336	T	0.02167	0.16835	T	-0.00440713	0.51045	T	-0.244107	0.50396	T	0.0275842688571556	0.01628	T	0.50295	0.15803	T	0.07200823	0.15984	0.06444694	0.12916	0.07200823	0.15984	0.06444694	0.12916	-3.403	0.15097	T	.	.	0.119	0.24294	B	.	.	1.042832	0.14237	10.81	0.88324392343806579	0.17887	0.65189	0.32654	D	AEFDBCI	0.111491	0.22072	N	-0.660458155333548	0.17157	0.8804225	-0.554068222297903	0.20697	1.116332	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,23,0:160:15:0|1:41382308_A_G:15,0,5027,426,5094,5521:41382308	14	0	5	0
chr17	41382311	41382311	C	T	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G62A:p.R21K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.001	B	.	.	1.000	N	0	N	.	.	-1.031	T	0.039	T	0.176	1.278	10.17	-0.174	0.122	-0.215	4.436	0.072	0.00559261676492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999663	0.20745	N	1.1	0.28011	L	-1.55	0.81727	D	.	.	.	0.199	0.21969	-1.0308	0.20195	T	0.039	0.16935	T	8	0.08334431	0.13855	T	0.005593	0.14439	T	.	.	0.293	0.25560	0.657325010897	0.65446	0.07906609140832596	0.07841	0.0402348126993	0.04305	0.306056171656	0.11311	T	0.021002	0.16432	T	-0.119232	0.33249	T	-0.409045	0.32335	T	0.0497427848752955	0.05455	T	0.382662	0.09313	T	0.069265865	0.15160	0.074363045	0.16259	0.069265865	0.15160	0.074363045	0.16259	-2.912	0.09264	T	.	.	0.091	0.13080	B	.	.	1.087164	0.14705	11.26	0.93968684478021924	0.24041	0.45317	0.27512	N	AEFDBCI	0.063292	0.12223	N	-0.668850020287515	0.16912	0.8658866	-0.557939429380533	0.20595	1.110326	0.0465120987434442	0.14694	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	-0.174	0.12665	0.036000	0.13706	-0.541000	0.08582	0.596000	0.33519	0.869000	0.30776	0.000000	0.08366	0.387000	0.26492	0.1565:0.3623:0.0:0.4812	4.436	0.10975	167	0.93508	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	438.29	101	chr17	41382311	.	C	G,T	438.29	.	AC=5,2;AF=0.119,0.048;AN=42;BaseQRankSum=-4.980e+00;DP=1764;ExcessHet=2.5830;FS=106.599;InbreedingCoeff=-0.1982;MLEAC=5,2;MLEAF=0.119,0.048;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.860;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,23,0:160:15:0|1:41382308_A_G:15,0,5027,426,5094,5521:41382308	14	0	5	0
chr17	43209576	43209576	C	T	exonic	NBR1	.	nonsynonymous SNV	NBR1:NM_001291571:exon21:c.C2747T:p.S916L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	N	.	.	.	.	-1.001	T	0.077	T	.	0.422	6.290	0.668	0.179	-0.690	6.907	0.099	0.00247799293091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.892e-06	2.736e-06	0	5.862e-06	5.049e-05	6.8e-07	4.6e-07	1.678e-05	9.94e-06	0	0	0	0	0	0	0	0	5.049e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	0.89	0.45636	T	.	.	.	0.231	0.25989	-1.0011	0.29602	T	0.077	0.30828	T	7	0.083803385	0.13980	T	0.002478	0.04925	T	.	.	0.34	0.33141	0.177238962908	0.17366	.	.	.	.	.	.	.	.	.	.	-0.208605	0.19577	T	-0.537423	0.18551	T	0.0225476848085301	0.00970	T	0.474053	0.14146	T	.	.	.	.	.	.	.	.	-2.953	0.09684	T	.	.	0.104	0.18705	B	.	.	0.197311	0.05827	2.267	0.68196843098406135	0.08585	0.03259	0.08291	N	AEFBI	0.040444	0.06017	N	-0.901074322236357	0.10816	0.5188141	-0.995857017767948	0.09878	0.4940473	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	505	0.75648	.	.	.	.	.	.	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	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,18,0:64:99:0|1:43209576_C_T:155,0,1342,291,1392,1683:43209576	2	0	4	13
chr17	43209576	43209576	C	G	exonic	NBR1	.	stopgain	NBR1:NM_001291571:exon21:c.C2747G:p.S916X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.966	N	.	.	.	.	.	.	.	.	.	0.298	5.615	0.668	0.179	-0.690	6.907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.983113	0.39974	D	.	.	.	.	.	.	.	.	.	0.119	0.10911	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.411962	0.01929	T	-0.829532	0.01270	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115114	0.05136	1.662	0.67607967295508664	0.08405	0.08425	0.14356	N	AEFBI	0.032893	0.03801	N	-0.577608091250192	0.19625	1.028636	-0.768591458878559	0.15266	0.8020448	4.44860287574638E-4	0.07004	0.475973	0.10046	0	0.601575	0.49859	0	0.463624	0.06942	0	0.221012	0.04332	2	.	.	3.12	0.668	0.17081	-0.683000	0.05280	-0.427000	0.09246	0.530000	0.24713	0.000000	0.06391	0.000000	0.08366	0.146000	0.20164	0.0:0.7932:0.0:0.2068	6.907	0.23497	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	0.375	945.77	54	chr17	43209576	.	C	T,G	945.77	.	AC=4,2;AF=0.250,0.125;AN=16;BaseQRankSum=-2.204e+00;DP=843;ExcessHet=1.7912;FS=369.161;InbreedingCoeff=-0.4233;MLEAC=7,3;MLEAF=0.438,0.188;MQ=60.00;MQRankSum=0.00;QD=2.89;ReadPosRankSum=0.771;SOR=8.977	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:46,18,0:64:99:0|1:43209576_C_T:155,0,1342,291,1392,1683:43209576	2	0	4	13
chr17	44353825	44353825	G	C	exonic	FAM171A2	.	nonsynonymous SNV	FAM171A2:NM_198475:exon8:c.C2389G:p.L797V,	.	.	.	.	.	.	.	.	.	.	.	3260014	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.56	T	0.494	P	0.182	B	0.120	U	1.000	N	1.245	L	1.47	T	-1.059	T	0.055	T	0.058	1.100	9.489	3.36	0.814	0.483	11.055	0.073	0.217233787327	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452193327	5.742e-05	5.336e-05	5.745e-05	5.739e-05	7.15e-05	4.667e-05	4.293e-05	5.81e-05	5.344e-05	0	0	0	0	0	0	7.15e-05	0	0	1.987e-05	1.971e-05	2.591e-05	1.355e-05	4.443e-05	5.28e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.443e-05	0	0	0.634	0.05091	T	0.406	0.14725	T	0.494	0.37037	P	0.182	0.35926	B	0.120303	0.19040	U	0.347083	0.999999	0.08975	N	1.735	0.44892	L	1.47	0.31987	T	-0.32	0.12283	N	0.061	0.03283	-1.0592	0.11956	T	0.055	0.23072	T	10	0.074153125	0.11297	T	0.217234	0.87598	D	0.073	0.21317	0.493	0.58048	0.0138822411134	0.00435	0.037629819886161466	0.03708	.	.	0.847066164017	0.89171	D	0.002462	0.01855	T	-0.30064	0.08600	T	-0.669625	0.07632	T	0.244010731577873	0.22602	T	0.50435	0.15896	T	0.07523495	0.16936	0.0526414	0.08714	0.07523495	0.16935	0.0526414	0.08714	-4.065	0.24772	T	.	.	0.090	0.12702	B	.	.	2.188074	0.27896	17.62	0.93205997567186827	0.22877	0.09746	0.15432	N	AEFDBCIJ	0.176349	0.30355	N	-0.631185679634715	0.18012	0.9317564	-0.600037786882085	0.19491	1.046032	0.999999992079075	0.74766	0.72623	0.87236	0	0.519925	0.08708	0	0.594344	0.31042	0	0.508809	0.08732	0	.	.	4.33	3.36	0.37579	0.684000	0.25043	4.817000	0.45088	-0.246000	0.07238	0.055000	0.21596	1.000000	0.68203	0.932000	0.46971	0.0949:0.0:0.9051:0.0	11.055	0.47127	501	0.75956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	464.98	40	chr17	44353825	.	G	C	464.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.010e-01;DP=733;ExcessHet=0.0000;FS=4.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=0.908;SOR=0.450	GT:AD:DP:GQ:PL	0/1:19,21:40:99:479,0,411	20	0	1	0
chr17	45264641	45264641	G	T	exonic	MAP3K14	.	nonsynonymous SNV	MAP3K14:NM_003954:exon16:c.C2839A:p.P947T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.729	N	0.695	N	.	.	-0.480	T	0.270	T	0.641	3.672	18.66	5.71	2.700	5.425	16.999	0.165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.015e-07	1.368e-06	0	1.417e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.986	0.76916	D	0.000044	0.53742	D	0.122569	.	.	.	1.245	0.31408	L	.	.	.	.	.	.	0.318	0.36254	-0.4800	0.69366	T	0.270	0.64204	T	8	0.59294987	0.66483	D	.	.	.	0.165	0.42395	0.256	0.19689	0.39619538035	0.39233	0.40891390247347886	0.40807	.	.	0.665855526924	0.62247	T	0.405392	0.76158	T	0.225748	0.76319	D	0.0864944	0.76011	D	0.84839916229248	0.50027	D	0.821518	0.48098	T	0.2647325	0.49540	0.4353966	0.67027	0.2647325	0.49540	0.4353966	0.67027	-3.878	0.21973	T	.	.	0.135	0.29311	B	.;.;.	.;.;.	3.499378	0.48948	22.7	0.99793160212069032	0.87839	0.87140	0.46590	D	AEFGBHCI	.	.	.	0.571905817759109	0.71424	5.649009	0.603844214618808	0.75218	6.271953	0.99999999212628	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.121787	0.03316	0	0.221052	0.04502	0	0.978197	0.82212	5.71	5.71	0.89031	3.184000	0.50627	3.958000	0.40726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.666000	0.33137	0.0:0.0:1.0:0.0	16.999	0.86250	514	0.74853	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	767.98	35	chr17	45264641	.	G	T	767.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.302e+00;DP=773;ExcessHet=0.0000;FS=7.603;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=0.115;SOR=0.186	GT:AD:DP:GQ:PL	0/1:30,31:61:99:782,0,798	20	0	1	0
chr17	47698706	47698706	C	G	exonic	TBKBP1	.	nonsynonymous SNV	TBKBP1:NM_014726:exon4:c.C565G:p.P189A,	.	.	408	1090	22	2	0	26	0.011786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.3	B	0.098	B	0.070	N	1.000	N	0.69	N	1.14	T	-1.047	T	0.040	T	0.277	-0.044	3.792	2.58	0.744	0.172	8.545	0.019	.	0.0022	0.00978435	0.0138	0.0015	0.0104	0.0064	0.0065	0.0071	0.0214	0.0583	0.0084152	1301	154602	rs201538952	0.0057	0.0057	0.0049	0.0065	0.0377	0.0056	0.0055	0.0366	0.0361	0.0006	0.0056	0.0012	0.0104	0.0045	0.0047	0.0033	0.0066	0.0377	0.0038	0.0039	0.0034	0.0043	0.0307	0.0036	0.0035	0.0267	0.0251	0.0011	0	0.0048	0.0009	0.0031	0.0038	0	0.0036	0.0052	0.0307	0.011	0.55530	D	0.0	0.92824	D	0.3	0.32550	B	0.098	0.30479	B	0.069642	0.21592	N	0.389782	0.999754	0.20482	N	1.7	0.43825	L	1.14	0.38397	T	-2.28	0.50830	N	0.351	0.39254	-1.0472	0.15188	T	0.040	0.17020	T	10	0.0030738413	0.00051	T	.	.	.	0.019	0.03383	.	.	0.386721274199	0.38283	0.1723021641483622	0.17150	0.387575456566	0.40033	0.486798673868	0.36995	T	0.01481	0.22531	T	-0.511324	0.00493	T	-0.477982	0.24662	T	0.0128848568433227	0.00221	T	0.587441	0.37371	T	0.061280027	0.12672	0.05814486	0.10695	0.061280027	0.12671	0.05814486	0.10695	-4.375	0.29216	T	.	.	0.053	0.00368	B	.;.;.	.;.;.	0.658856	0.10271	7.007	0.50192985401815715	0.04341	0.16935	0.19615	N	AEFDGBCI	0.054115	0.09811	N	-0.667588484422364	0.16949	0.8680645	-0.684250225387856	0.17354	0.9224066	0.933293736583335	0.27123	0.631981	0.41245	0	0.858003	0.99906	0	0.779548	0.98927	0	0.683535	0.66460	0	.	.	5.61	2.58	0.30011	0.788000	0.26533	1.686000	0.28041	0.587000	0.30956	0.583000	0.27610	0.954000	0.29108	0.009000	0.08673	0.0:0.7496:0.0:0.2504	8.545	0.32576	399	0.82780	.;.;.	.	.	.	.	.	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	0.02381	1010.98	33	chr17	47698706	.	C	G	1010.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.73;DP=780;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.04;ReadPosRankSum=-8.600e-01;SOR=0.775	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1025,0,796	20	0	1	0
chr17	49578668	49578668	C	G	exonic	NXPH3	.	nonsynonymous SNV	NXPH3:NM_007225:exon2:c.C127G:p.R43G,	.	.	429	1089	4	0	0	4	0.00183318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.037	B	0.016	B	0.002	N	0.725	N	0	N	.	.	-1.055	T	0.051	T	0.53	1.988	12.60	4.69	2.435	1.652	9.973	0.134	0.00297666885769	0.0032	0.000199681	0.0030	0.0014	0.0014	0	0.0015	0.0047	0.0012	0.0002	0.0031047	480	154602	rs147028083	0.0049	0.0049	0.0050	0.0048	0.0062	0.0048	0.0048	0.0060	0.0060	0.0005	0.0017	0.0015	0	0.0015	0.0005	0.0062	0.0024	9.324e-05	0.0031	0.0031	0.0034	0.0027	0.0054	0.0028	0.0027	0.0049	0.0048	0.0010	0.0143	0.0014	0.0023	0	0.0008	0	0.0054	0.0014	0	0.064	0.53172	T	0.361	0.46406	T	0.001	0.20876	B	0.001	0.17743	B	0.001744	0.38106	N	0.151513	0.725468	0.29881	N	0.805	0.20218	L	.	.	.	-0.44	0.14588	N	0.084	0.17691	-1.0549	0.13066	T	0.051	0.21611	T	9	0.0032102168	0.00054	T	0.002977	0.06369	T	0.134	0.36365	.	.	0.043077524339	0.03247	0.5380374425062754	0.53728	0.411987167301	0.41947	0.550511360168	0.45929	T	0.153335	0.49413	T	-0.370618	0.03563	T	-0.295748	0.45171	T	0.0180753720466314	0.00530	T	0.794021	0.44558	T	0.12601724	0.29527	0.09061094	0.21259	0.12601724	0.29527	0.09061094	0.21258	-3.583	0.17611	T	.	.	0.113	0.28664	B	.;.	.;.	4.174311	0.62793	24.5	0.9951296899144596	0.68739	0.91792	0.54272	D	AEFDGBI	0.300498	0.40927	N	-0.314539512972346	0.28595	1.57852	-0.0990234223696222	0.35432	2.049772	0.999854983581166	0.44174	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.69	4.69	0.58546	-0.046000	0.11937	7.656000	0.63963	0.597000	0.34315	0.000000	0.06391	1.000000	0.68203	0.963000	0.52385	0.1518:0.7008:0.1474:0.0	9.973	0.40934	868	0.31772	.;.	.	.	.	.	.	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	0.02381	618.98	34	chr17	49578668	.	C	G	618.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.140;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=-1.656e+00;SOR=0.674	GT:AD:DP:GQ:PL	0/1:39,29:68:99:633,0,924	20	0	1	0
chr17	49707012	49707012	G	C	exonic	SLC35B1	.	nonsynonymous SNV	SLC35B1:NM_005827:exon2:c.C161G:p.T54S,	.	.	431	1058	33	0	0	33	0.015356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	T	0.002	B	0.004	B	0.000	D	0.993	D	-0.245	N	1.55	T	-1.070	T	0.023	T	0.719	0.599	7.228	4.48	2.294	7.292	13.851	0.254	.	0.0062	0.00539137	0.0109	0.0018	0.0041	0.0001	0.0290	0.0117	0.0121	0.0165	0.0101422	1568	154602	rs142518431	0.0097	0.0098	0.0093	0.0101	0.0177	0.0096	0.0095	0.0169	0.0166	0.0011	0.0048	0.0199	5.038e-05	0.0252	0.0132	0.0089	0.0099	0.0177	0.0084	0.0084	0.0077	0.0092	0.0149	0.0080	0.0079	0.0121	0.0111	0.0017	0	0.0063	0.0225	0.0002	0.0246	0.0136	0.0100	0.0081	0.0149	0.603	0.05584	T	0.759	0.04652	T	0.0	0.02946	B	0.004	0.10090	B	0.000009	0.62929	D	0.109197	0.993073	0.41828	D	-0.44	0.02835	N	1.55	0.29866	T	0.42	0.03352	N	.	.	-1.0703	0.09348	T	0.023	0.09696	T	10	0.0074454844	0.00169	T	.	.	.	0.254	0.56428	0.478	0.55663	.	.	0.513224448334425	0.51244	0.253413253526	0.27906	0.680591702461	0.64353	T	0.01522	0.12811	T	-0.344412	0.05088	T	-0.254526	0.49370	T	0.0135447190752144	0.00249	T	0.829117	0.55914	T	0.13029192	0.30405	0.15126616	0.35639	0.13029192	0.30405	0.15126616	0.35638	-5.308	0.40022	T	.	.	0.136	0.40666	B	.;.;.;.;.	.;.;.;.;.	3.131060	0.42311	21.5	0.86187237248678539	0.16370	0.97835	0.77484	D	AEFB	0.932008	0.92170	D	-0.276935970065927	0.30041	1.671435	-0.031856219340626	0.38284	2.25339	0.999999996993668	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.48	4.48	0.53973	7.140000	0.76912	11.869000	0.98523	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.1541:0.8459:0.0	13.851	0.62994	761	0.50382	.;.;.;.;.	.	.	XYLT2	Esophagus_Muscularis	.	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	0.04762	4208.11	33	chr17	49707012	.	G	C	4208.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.18;DP=999;ExcessHet=0.1072;FS=1.271;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.27;ReadPosRankSum=0.415;SOR=0.639	GT:AD:DP:GQ:PL	0/1:79,80:159:99:2049,0,1887	19	0	2	0
chr17	50699856	50699858	GTT	-	exonic	ANKRD40	.	nonframeshift deletion	ANKRD40:NM_052855:exon3:c.319_321del:p.N107del,	.	.	426	1093	2	1	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.324e-07	6.841e-07	1.436e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1546.94	34	chr17	50699855	.	GGTT	G	1546.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.916;DP=765;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.80;ReadPosRankSum=0.456;SOR=0.748	GT:AD:DP:GQ:PL	0/1:24,41:65:99:1561,0,874	20	0	1	0
chr17	57849289	57849289	C	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.G166A:p.A56T,	.	.	431	1082	9	0	0	9	0.00414174	.	.	2907307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.711	P	0.264	B	0.001	D	0.513	D	1.175	L	.	.	-0.885	T	0.093	T	0.142	4.496	24.1	4.89	1.482	2.526	9.168	0.027	0.00589887765943	0.0002	.	0.0007	0	0	0	0	0.0007	0.0022	0.0020	0.0005886	91	154602	rs149290593	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0016	0.0015	0	0.0001	0.0043	0	0	0.0012	0.0004	0.0007	0.0018	0.0004	0.0004	0.0003	0.0004	0.0008	0.0003	0.0003	0.0003	0.0003	2.405e-05	0	0.0001	0.0040	0	0	0.0034	0.0005	0.0005	0.0008	0.188	0.21304	T	0.425	0.13912	T	0.711	0.42090	P	0.264	0.39629	B	0.000639	0.42799	D	0.265315	0.512619	0.31831	D	2.175	0.60977	M	.	.	.	-0.82	0.22508	N	0.198	0.22098	-0.8851	0.49349	T	0.093	0.35363	T	9	0.009046525	0.00205	T	0.005899	0.15371	T	0.027	0.05988	.	.	0.42538462244	0.42159	0.4361992380045958	0.43536	0.194094060147	0.21745	0.412172347307	0.26758	T	0.020394	0.16063	T	-0.458487	0.01005	T	-0.450376	0.27656	T	0.0235781740017808	0.01093	T	0.687931	0.30167	T	0.07098471	0.15680	0.07776562	0.17356	0.08269517	0.19061	0.07897474	0.17737	-3.181	0.12250	T	.	.	0.102	0.18206	B	.;.	.;.	2.916566	0.38706	20.8	0.99894193891930172	0.96742	0.62965	0.31943	D	AEFDGBHCI	0.072144	0.14389	N	0.147367657306187	0.48689	3.077984	0.245644909185354	0.52402	3.41525	0.999999999999146	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	4.89	0.63387	1.904000	0.39498	2.610000	0.33572	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.8358:0.0:0.1641	9.168	0.36227	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2321.98	33	chr17	57849289	.	C	T	2321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.980e-01;DP=868;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.88;ReadPosRankSum=-1.210e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/1:62,94:156:99:2336,0,1388	20	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	YES	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.639	25.4	5.44	2.535	7.487	19.245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	576.98	48	chr17	61968034	.	C	G	576.98	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-9.620e-01;DP=1240;ExcessHet=7.7275;FS=188.533;InbreedingCoeff=-0.4183;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.939;SOR=11.843	GT:AD:DP:GQ:PL	0/1:31,18:49:40:40,0,497	8	0	11	2
chr17	63545170	63545170	C	A	exonic	KCNH6	.	nonsynonymous SNV	KCNH6:NM_001278919:exon12:c.C2489A:p.A830D	.	.	419	1087	16	0	0	16	0.00730594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.381	B	0.143	B	0.013	N	0.991	N	1.39	L	-5.94	D	0.734	D	0.915	D	0.251	1.261	10.11	2.36	0.389	1.657	7.214	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	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1210.11	35	chr17	63545170	.	C	A	1210.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.207;DP=784;ExcessHet=0.1072;FS=6.023;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.496;SOR=0.896	GT:AD:DP:GQ:PL	0/1:36,29:65:99:732,0,929	19	0	2	0
chr17	63880507	63880507	A	G	exonic	GH2	.	nonsynonymous SNV	GH2:NM_022557:exon4:c.T721C:p.W241R	.	.	0	1506	15	1	0	17	0.00561241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.003	B	.	.	1.000	N	.	.	-2.46	D	-0.778	T	0.326	T	0.2	-0.523	1.613	-1.33	-0.491	-1.816	8.059	0.255	0.0264370591706	0.0015	0.00119808	0.0032	0	0.0005	0	0.0095	0.0030	0.0044	0.0070	0.0028913	447	154602	rs61764020	0.0023	0.0023	0.0020	0.0026	0.0071	0.0022	0.0022	0.0067	0.0065	0.0002	0.0002	0.0016	0	0.0122	0.0043	0.0017	0.0019	0.0071	0.0027	0.0027	0.0021	0.0033	0.0044	0.0025	0.0024	0.0029	0.0026	0.0002	0	0.0006	0.0006	0	0.0145	0.0068	0.0031	0.0028	0.0044	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.46	0.88924	D	-0.18	0.09796	N	0.144	0.14480	-0.7783	0.56398	T	0.326	0.69470	T	8	0.004633844	0.00097	T	0.026437	0.49346	D	0.255	0.56562	0.417	0.45709	0.337868961071	0.33390	0.232146659423837	0.23129	0.102394651726	0.11590	0.369934737682	0.20822	T	.	.	.	-0.480942	0.00730	T	-0.460726	0.26521	T	0.00783980622075071	0.00092	T	0.155684	0.01361	T	.	.	.	.	.	.	.	.	-2.153	0.03818	T	.	.	0.159	0.35140	B	.	.	-0.867574	0.00981	0.039	0.69038374815443504	0.08845	0.02320	0.06650	N	AEFDBI	0.019037	0.00627	N	-1.06781481658037	0.07243	0.3358606	-1.07281189044129	0.08238	0.4041939	1.20928768109436E-4	0.05269	0.653281	0.48532	0	0.59043	0.45803	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	2.74	-1.33	0.08693	-2.120000	0.01410	-8.864000	0.00902	-1.374000	0.01167	0.002000	0.15269	0.000000	0.08366	0.015000	0.10482	0.5473:0.0:0.4527:0.0	8.059	0.29784	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	0	0	0	1	0	0	0	0.02381	2496.98	36	chr17	63880507	.	A	G	2496.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.436e+00;DP=928;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.69;MQRankSum=-1.777e+00;QD=12.06;ReadPosRankSum=0.430;SOR=0.686	GT:AD:DP:GQ:PL	0/1:106,101:207:99:2511,0,2888	20	0	1	0
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N,	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	D	0.996	D	0.918	D	0.001	N	0.981	D	3.07	M	-4.04	D	1.043	D	0.927	D	0.189	3.234	16.84	3.89	2.180	0.319	9.244	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	416.88	220	chr17	63941038	.	C	G	416.88	.	AC=6;AF=0.214;AN=28;BaseQRankSum=-5.194e+00;DP=3372;ExcessHet=1.7912;FS=313.201;InbreedingCoeff=-0.3107;MLEAC=8;MLEAF=0.286;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=0.282;SOR=13.047	GT:AD:DP:GQ:PL	0/1:125,47:192:13:13,0,2600	8	0	6	7
chr17	67959642	67959642	-	CCTCCAGCCCCTCCAGCCCCTCCAGCC	exonic	BPTF	.	nonframeshift insertion	BPTF:NM_182641:exon24:c.8028_8029insCCTCCAGCCCCTCCAGCCCCTCCAGCC:p.P2684_P2685insAPPAPPAPP	.	.	428	734	271	57	32	417	0.207771	.	.	1264390	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	9.484e-05	0	0	0.0005	0	0.0003	0.0001153	3	26028	.	0.0022	0.0024	0.0023	0.0022	0.0074	0.0022	0.0021	0.0056	0.0049	0.0006	0.0003	0.0030	0	0.0008	0.0074	0.0025	0.0026	0.0008	0.0019	0.0021	0.0020	0.0018	0.0029	0.0017	0.0016	0.0026	0.0024	0.0007	0	0.0018	0.0026	0	0.0006	0.0145	0.0029	0.0025	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	13627.31	45	chr17	67959642	.	T	TCCTCCAGCC,TCCTCCAGCCCCTCCAGCCCCTCCAGCC	13627.31	.	AC=8,1;AF=0.190,0.024;AN=42;BaseQRankSum=0.749;DP=1382;ExcessHet=0.0874;FS=0.000;InbreedingCoeff=0.2929;MLEAC=8,1;MLEAF=0.190,0.024;MQ=60.00;MQRankSum=0.00;QD=23.25;ReadPosRankSum=-6.930e-01;SOR=0.654	GT:AD:DP:GQ:PL	0/1:61,37,0:98:99:1342,0,2401,1528,2513,4041	14	1	5	0
chr17	68903472	68903472	G	A	exonic	ABCA8	.	nonsynonymous SNV	ABCA8:NM_001375771:exon18:c.C2243T:p.A748V	.	.	437	1049	35	1	0	37	0.0173302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.003	B	0.005	B	0.441	N	1.000	N	0.84	L	-0.97	T	-1.002	T	0.193	T	0.028	1.003	9.097	-4.32	-0.846	-0.967	3.460	0.052	.	0.0003	0.00199681	0.0017	0	0	0	0	0.0004	0.0044	0.0107	0.0014683	227	154602	rs184161214	0.0010	0.0010	0.0007	0.0014	0.0115	0.0010	0.0010	0.0109	0.0107	2.987e-05	0.0005	0.0002	0	0	0.0066	0.0003	0.0016	0.0115	0.0008	0.0008	0.0006	0.0010	0.0148	0.0007	0.0006	0.0120	0.0110	4.822e-05	0	0.0003	0.0003	0.0002	0	0	0.0005	0.0014	0.0148	0.568	0.06381	T	0.491	0.14412	T	0.002	0.09854	B	0.002	0.06944	B	0.440630	0.04758	N	1.409270	1	0.08975	N	0.695	0.17993	N	-0.97	0.75670	T	0.58	0.03041	N	0.069	0.04188	-1.0025	0.29197	T	0.193	0.54667	T	10	0.0037364364	0.00069	T	.	.	.	0.052	0.14661	.	.	0.469578130381	0.46583	0.14823423802511468	0.14745	0.0573251470501	0.06345	0.262227773666	0.05158	T	0.037209	0.37060	T	-0.61317	0.00121	T	-0.644158	0.09368	T	0.00532305861954774	0.00058	T	0.275172	0.06971	T	0.019498836	0.00482	0.031217244	0.01680	0.019498836	0.00482	0.031217244	0.01680	.	.	.	.	.	0.067	0.03266	B	.;.;.	.;.;.	-0.368211	0.02333	0.251	0.70904960446772303	0.09450	0.05502	0.11389	N	AEFBHCI	0.136810	0.25760	N	-1.48736639363359	0.01938	0.08510498	-1.53869890657539	0.02055	0.09393695	9.66251316486085E-5	0.04910	0.554377	0.28877	0	0.573888	0.26702	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	5.43	-4.32	0.03433	-0.756000	0.04882	-6.269000	0.01447	-0.546000	0.04920	0.000000	0.06391	0.000000	0.08366	0.103000	0.18424	0.1687:0.2995:0.4231:0.1087	3.460	0.07097	964	0.07719	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5514.92	34	chr17	68903472	.	G	A	5514.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.740e-01;DP=1042;ExcessHet=0.6776;FS=0.547;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=12.48;ReadPosRankSum=0.198;SOR=0.762	GT:AD:DP:GQ:PL	0/1:59,48:107:99:1165,0,1602	17	0	4	0
chr17	69194391	69194391	T	G	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon12:c.A1339C:p.T447P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.134	U	0.773	D	3.115	M	-3.44	D	0.986	D	0.905	D	0.506	3.427	17.59	-0.080	-0.265	-0.468	10.925	0.526	0.0706512358573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.991	0.79672	D	0.134411	0.18517	U	0.279124	1	0.08975	N	2.905	0.84014	M	-3.44	0.94428	D	-5.19	0.83625	D	0.316	0.35620	0.986	0.96957	D	0.905	0.96836	D	10	0.6209373	0.67973	D	0.070651	0.71060	D	0.526	0.79947	0.631	0.76699	0.699037688466	0.69643	0.5532918652599023	0.55255	0.243943641455	0.26902	0.252976089716	0.04087	T	0.533151	0.83880	D	0.135842	0.67927	D	-0.0426483	0.67523	D	0.895191133022308	0.54670	D	0.914809	0.69637	D	0.6011463	0.72753	0.5017864	0.71199	0.6011463	0.72754	0.5017864	0.71199	-11.463	0.82137	D	.	.	0.239	0.47261	B	.	.	1.737620	0.22111	15.49	0.99165558929957254	0.54241	0.13345	0.17803	N	AEFBIJ	0.286709	0.39903	N	-0.111038399058478	0.36910	2.140095	-0.406183954240203	0.24816	1.361035	7.03656766406363E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	3.8	-0.0796	0.13044	-0.113000	0.10745	-5.355000	0.01750	0.587000	0.30956	0.003000	0.16062	0.000000	0.08366	0.207000	0.22098	0.7412:0.0:0.0:0.2588	10.925	0.46398	910	0.22284	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1429	217.3	33	chr17	69194391	.	T	G	217.3	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-4.822e+00;DP=1966;ExcessHet=1.7912;FS=271.712;InbreedingCoeff=-0.1603;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.25;ReadPosRankSum=0.097;SOR=11.722	GT:AD:DP:GQ:PL	0/1:121,43:164:7:7,0,2441	15	0	6	0
chr17	69306944	69306944	T	C	exonic	ABCA5	.	nonsynonymous SNV	ABCA5:NM_018672:exon5:c.A569G:p.N190S	.	.	441	1071	10	0	0	10	0.00464684	.	.	971089	Gingival_fibromatosis-hypertrichosis_syndrome	MONDO:MONDO:0007610,MedGen:C1851120,OMIM:135400,Orphanet:2026	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.991	D	0.932	D	0.009	N	0.989	D	2.86	M	-2.23	D	0.768	D	0.794	D	0.061	3.916	19.92	5.22	1.948	3.952	15.107	0.463	0.0667926131942	0.0010	0.000199681	0.0006	0.0003	0.0004	0.0001	0.0002	0.0008	0.0022	0.0004	0.0006209	96	154602	rs139696278	0.0010	0.0010	0.0009	0.0010	0.0092	0.0009	0.0009	0.0072	0.0065	0.0010	0.0006	0.0035	5.41e-05	1.952e-05	0.0092	0.0010	0.0013	0.0004	0.0008	0.0008	0.0008	0.0007	0.0009	0.0006	0.0006	0.0007	0.0007	0.0007	0	0.0002	0.0035	0.0004	9.43e-05	0.0102	0.0009	0.0014	0.0002	0.003	0.68238	D	0.031	0.53788	D	0.991	0.64070	D	0.932	0.66722	D	0.009140	0.30503	N	0.275860	0.989334	0.40932	D	2.91	0.84121	M	-2.23	0.87116	D	-4.32	0.76655	D	0.286	0.44952	0.768	0.94011	D	0.794	0.93032	D	9	0.121088594	0.22948	T	0.066793	0.69979	D	0.463	0.75956	.	.	0.948350954613	0.94780	0.409673485192406	0.40883	0.290506961512	0.31456	0.414972186089	0.27145	T	0.466385	0.84767	T	-0.327766	0.06283	T	-0.284123	0.46381	T	0.0583625470161074	0.06908	T	0.931907	0.74605	D	0.44946644	0.64007	0.48845968	0.70399	0.44946644	0.64008	0.48845968	0.70400	-8.358	0.63485	D	.	.	0.092	0.13783	B	.;.;.	.;.;.	3.876731	0.56323	23.7	0.99888516142203843	0.96281	0.96007	0.67112	D	AEFBI	0.556772	0.56667	D	0.652844709627384	0.76553	6.507811	0.606795483393868	0.75430	6.309534	0.0859597177483523	0.15996	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.22	5.22	0.72285	4.150000	0.57871	4.999000	0.46583	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.107	0.72000	977	0.04225	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	2031.98	33	chr17	69306944	.	T	C	2031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.674e+00;DP=862;ExcessHet=0.0000;FS=7.600;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=1.02;SOR=0.319	GT:AD:DP:GQ:PL	0/1:73,83:156:99:2046,0,2028	20	0	1	0
chr17	74592287	74592287	G	A	exonic	C17orf77	.	nonsynonymous SNV	C17orf77:NM_001302809:exon3:c.G241A:p.A81T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.838	P	0.069	B	.	.	1.000	N	0	N	0.56	T	-1.018	T	0.043	T	0.155	0.173	4.932	-3.88	-0.867	-0.449	3.833	0.061	0.00119982776173	.	.	9.893e-05	0	0	0	0	5.999e-05	0	0.0005	7.76e-05	12	154602	rs770857613	5.065e-05	5.062e-05	3.95e-05	6.191e-05	0.0002	4.127e-05	3.78e-05	0.0001	8.647e-05	0	0	0	2.52e-05	0	0.0002	4.678e-05	8.286e-05	0.0002	3.286e-05	3.284e-05	2.57e-05	4.037e-05	7.349e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	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	0.02381	2538.98	71	chr17	74592287	.	G	A	2538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=1333;ExcessHet=0.0000;FS=1.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=-5.750e-01;SOR=0.811	GT:AD:DP:GQ:PL	0/1:93,92:185:99:2553,0,2364	20	0	1	0
chr17	74949291	74949291	G	A	exonic	OTOP3	.	nonsynonymous SNV	OTOP3:NM_001272005:exon7:c.G1612A:p.G538R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.4	L	2.03	T	-1.025	T	0.107	T	0.813	3.891	19.78	4.28	1.946	6.254	16.709	0.415	0.0829754440851	.	.	8.245e-05	0	8.637e-05	0.0010	0	0	0	0	6.47e-05	10	154602	rs753881983	1.368e-05	1.368e-05	1.77e-05	9.626e-06	0.0002	8.94e-06	7.26e-06	0.0001	8.775e-05	2.987e-05	2.237e-05	3.828e-05	0.0002	0	0.0002	5.396e-06	1.656e-05	0	3.284e-05	3.281e-05	3.855e-05	2.686e-05	0.0006	1.26e-05	7.98e-06	0.0002	8.407e-05	0	0	0	0	0.0006	0	0	2.94e-05	0	0	.	.	.	.	.	.	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.999928	0.51308	D	2.045	0.56016	M	.	.	.	.	.	.	.	.	-1.0250	0.22083	T	0.107	0.38931	T	10	0.397427	0.55327	T	0.082975	0.74015	D	0.415	0.72555	0.426	0.47185	0.395289904662	0.39143	0.6213336101127647	0.62066	0.234523316295	0.25995	0.665301680565	0.62167	T	0.035215	0.23632	T	-0.137139	0.30345	T	-0.0515499	0.66917	D	0.686145782470703	0.40070	D	0.877812	0.59215	D	0.58453304	0.71855	0.6945843	0.82020	0.58453304	0.71856	0.6945843	0.82021	-8.968	0.67491	D	.	.	0.384	0.58668	A	.;.	.;.	5.090406	0.85006	28.5	0.99916714949982066	0.98449	0.88686	0.48732	D	AEFBCI	0.789423	0.71861	D	0.500582648084197	0.67125	5.040048	0.463966500965075	0.65618	4.846667	0.935673772302897	0.27223	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.28	4.28	0.50183	7.663000	0.82798	9.784000	0.81612	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0:0.0:1.0:0.0	16.709	0.85240	929	0.16858	.;.	.	.	.	.	.	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	0.02381	2852.98	33	chr17	74949291	.	G	A	2852.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.35;DP=980;ExcessHet=0.0000;FS=0.468;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=0.321;SOR=0.732	GT:AD:DP:GQ:PL	0/1:126,114:240:99:2867,0,2930	20	0	1	0
chr17	75563152	75563152	G	A	exonic	LLGL2	.	nonsynonymous SNV	LLGL2:NM_001015002:exon7:c.G667A:p.V223M	.	.	433	1072	16	1	0	18	0.00832562	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.985	D	0.742	P	0.303	N	1.000	N	2.325	M	1.51	T	-0.593	T	0.355	T	0.281	1.583	11.25	4.05	2.510	5.152	15.316	0.135	0.0248507445817	0.0029	0.00139776	0.0042	0.0012	0.0057	0	0.0035	0.0049	0.0058	0.0049	0.0040168	621	154602	rs143338056	0.0043	0.0043	0.0042	0.0044	0.0114	0.0042	0.0042	0.0092	0.0084	0.0006	0.0043	0.0117	0	0.0024	0.0114	0.0044	0.0050	0.0042	0.0032	0.0032	0.0032	0.0032	0.0041	0.0030	0.0029	0.0037	0.0036	0.0009	0.0066	0.0031	0.0133	0	0.0033	0.0136	0.0041	0.0085	0.0037	0.073	0.36113	T	0.202	0.38742	T	0.633	0.40250	P	0.355	0.42984	B	0.303216	0.14561	N	0.704763	1	0.08975	N	1.79	0.46772	L	1.51	0.64630	T	-1.03	0.27052	N	0.564	0.58883	-0.5931	0.65097	T	0.355	0.71796	T	10	0.0087815225	0.00199	T	0.024851	0.47835	T	0.135	0.36572	.	.	0.594227467544	0.59100	0.32140087886191104	0.32053	0.335818286482	0.35586	0.415488272905	0.27214	T	0.109955	0.42425	T	-0.396935	0.02425	T	-0.342405	0.40071	T	0.0330578776078582	0.02482	T	0.882012	0.60217	D	0.095066406	0.22365	0.0792426	0.17822	0.095066406	0.22365	0.0792426	0.17821	-6.796	0.53129	T	.	.	0.183	0.45507	B	.;.;.;.;.	.;.;.;.;.	3.699903	0.52758	23.3	0.9319612477105117	0.22863	0.77718	0.38245	D	AEFDBCI	0.624119	0.60781	D	0.283122283442948	0.55290	3.693388	0.271751003823107	0.53896	3.556514	0.894630970354174	0.25935	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.604944	0.38103	0	.	.	5.09	4.05	0.46415	4.484000	0.60002	4.429000	0.43344	0.672000	0.70159	0.934000	0.32416	1.000000	0.68203	0.950000	0.49671	0.0:0.1401:0.8598:0.0	15.316	0.73789	982	0.03397	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1573.98	41	chr17	75563152	.	G	A	1573.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.836;DP=829;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=1.12;SOR=0.713	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1588,0,1441	20	0	1	0
chr17	75628217	75628217	C	T	splicing	RECQL5	NM_004259:exon18:c.2805+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.447	23.7	5.38	2.513	6.646	18.110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	1.362e-06	0	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.396905	0.89735	D	0.33235	0.89606	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	6.286587	0.94947	34	0.99565480950987217	0.72075	0.94209	0.60445	D	AEFDGBHCI	.	.	.	1.12531270778575	0.98576	18.68256	0.973792048475384	0.98052	17.321	0.999999999999964	0.74766	0.184171	0.03992	0	0.221468	0.04790	0	0.129117	0.03641	0	0.082385	0.02281	0	0.983234	0.89903	5.38	5.38	0.77279	6.503000	0.73611	7.630000	0.62690	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.940000	0.48062	0.0:1.0:0.0:0.0	18.110	0.89462	976	0.04745	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1253.98	36	chr17	75628217	.	C	T	1253.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.390e-01;DP=884;ExcessHet=0.0000;FS=2.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.84;ReadPosRankSum=-2.230e-01;SOR=1.000	GT:AD:DP:GQ:PL	0/1:103,57:160:99:1268,0,2710	20	0	1	0
chr17	75749023	75749030	CACCATCA	-	exonic	ITGB4	.	frameshift deletion	ITGB4:NM_001005619:exon26:c.3294_3301del:p.T1099Hfs*6	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	148.94	38	chr17	75749022	.	CCACCATCA	C	148.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.812e+00;DP=820;ExcessHet=0.0000;FS=59.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=1.49;SOR=5.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,15:112:99:0|1:75749022_CCACCATCA_C:163,0,3886:75749022	20	0	1	0
chr17	75749023	75749023	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	718.03	79	chr17	75749023	.	C	T,*	718.03	.	AC=1,1;AF=0.031,0.031;AN=32;BaseQRankSum=-5.624e+00;DP=1348;ExcessHet=0.1072;FS=217.263;InbreedingCoeff=-0.1201;MLEAC=1,1;MLEAF=0.031,0.031;MQ=60.00;MQRankSum=0.00;QD=2.92;ReadPosRankSum=4.14;SOR=7.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,15:112:99:0|1:75749022_CCACCATCA_C:163,454,4384,0,3931,3886:75749022	14	0	1	5
chr17	75749025	75749025	C	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.C3296G:p.T1099S	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	D	0.967	D	0.763	P	0.000	D	0.998	D	0.975	L	1.41	T	-1.056	T	0.091	T	0.272	0.604	7.256	4.26	1.192	2.964	10.148	0.068	0.0303834520516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.424e-05	0.0015	9.185e-05	7.66e-05	9.909e-05	7.176e-05	6.712e-05	8.354e-05	7.787e-05	9.227e-05	0	0	0	0	0	9.909e-05	8.496e-05	5.863e-05	3.31e-05	6.589e-05	1.294e-05	5.42e-05	0.0002	1.268e-05	8.03e-06	4.91e-06	1.84e-06	2.421e-05	0	0	0	0	9.634e-05	0	2.956e-05	0	0.0002	0.002	0.72154	D	0.01	0.66756	D	0.902	0.56408	P	0.585	0.56556	P	0.000127	0.49741	D	0.135690	0.99842	0.44899	D	1.7	0.43825	L	1.41	0.33412	T	-1.84	0.43149	N	0.548	0.57433	-1.0563	0.12698	T	0.091	0.34820	T	10	0.48247474	0.60513	T	0.030383	0.52709	D	0.068	0.19811	0.275	0.22687	0.769952734743	0.76784	0.5578496369941545	0.55711	0.292936544315	0.31716	0.440746605396	0.30679	T	0.17119	0.51922	T	-0.14281	0.29444	T	-0.442913	0.28482	T	0.830028891563416	0.48532	D	0.711829	0.32778	T	0.48351398	0.66113	0.23997939	0.49361	0.48351398	0.66113	0.23997939	0.49360	-5.715	0.44338	T	0.5097648672697275	0.58368	0.123	0.25882	B	.;.;.;.	.;.;.;.	3.029679	0.40581	21.2	0.38500852697330945	0.02600	0.97196	0.73256	D	AEFBI	0.571759	0.57561	D	0.0815504541283303	0.45603	2.814062	0.0276339862330141	0.41003	2.45617	0.997117847965658	0.35288	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	4.26	0.49832	3.022000	0.49342	5.871000	0.50535	0.596000	0.33519	0.993000	0.37899	1.000000	0.68203	0.026000	0.12556	0.0:0.7874:0.1385:0.0741	10.148	0.41952	970	0.06235	.;.;.;.	.	.	.	.	.	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	0.1875	1195.72	80	chr17	75749025	.	C	G,*	1195.72	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-3.858e+00;DP=1686;ExcessHet=0.3300;FS=363.745;InbreedingCoeff=-0.2923;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.49;ReadPosRankSum=3.95;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,15:112:99:0|1:75749022_CCACCATCA_C:163,454,4384,0,3931,3886:75749022	5	0	2	13
chr17	75749025	75749025	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1195.72	80	chr17	75749025	.	C	G,*	1195.72	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-3.858e+00;DP=1686;ExcessHet=0.3300;FS=363.745;InbreedingCoeff=-0.2923;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.49;ReadPosRankSum=3.95;SOR=8.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,15:112:99:0|1:75749022_CCACCATCA_C:163,454,4384,0,3931,3886:75749022	5	0	2	13
chr17	75749026	75749026	C	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1267.21	80	chr17	75749026	.	C	G,*	1267.21	.	AC=2,1;AF=0.111,0.056;AN=18;BaseQRankSum=-3.986e+00;DP=1663;ExcessHet=0.3300;FS=369.875;InbreedingCoeff=-0.2730;MLEAC=3,2;MLEAF=0.167,0.111;MQ=60.00;MQRankSum=0.00;QD=3.60;ReadPosRankSum=4.10;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,15:112:99:0|1:75749022_CCACCATCA_C:163,454,4384,0,3931,3886:75749022	6	0	2	12
chr17	75749027	75749027	A	G	exonic	ITGB4	.	nonsynonymous SNV	ITGB4:NM_001005619:exon26:c.A3298G:p.I1100V	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.001	B	0.005	B	0.065	N	1.000	N	-0.255	N	1.86	T	-0.961	T	0.021	T	0.111	-0.309	2.530	-1.46	-0.019	0.434	10.078	0.009	0.0093230332651	.	.	8.858e-06	0	0	0	0	0	0	6.332e-05	6.5e-06	1	154602	rs754732749	7.125e-06	0.0003	8.531e-06	5.712e-06	3.103e-05	3.6e-06	2.63e-06	3.9e-06	1.76e-06	3.103e-05	0	0	0	0	0	6.562e-06	0	2.349e-05	0	6.661e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.849	0.02746	T	0.809	0.04181	T	0.0	0.07471	B	0.002	0.11217	B	0.065166	0.21900	N	0.445414	0.999584	0.20930	N	-1.15	0.00907	N	1.86	0.24285	T	-0.03	0.07444	N	0.247	0.30233	-0.9613	0.38936	T	0.021	0.08824	T	10	0.033866435	0.01575	T	0.009323	0.24459	T	0.009	0.00846	0.347	0.34274	0.238705975628	0.23479	0.35367653431977275	0.35281	0.239067160317	0.26460	0.284727245569	0.08161	T	0.053934	0.29583	T	-0.388524	0.02750	T	-0.695234	0.06090	T	0.0165865860176989	0.00419	T	0.564644	0.19916	T	0.041757572	0.06208	0.027220517	0.00859	0.041757572	0.06208	0.027220517	0.00859	-3.025	0.10719	T	0.07366712146606559	0.03127	0.061	0.02285	B	.;.;.;.	.;.;.;.	-0.703055	0.01314	0.071	0.21339881658324758	0.00809	0.01218	0.04323	N	AEFBI	0.107465	0.21410	N	-1.52727890269447	0.01672	0.07316043	-1.46805690100194	0.02610	0.1203548	0.806248547502662	0.24275	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	5.24	-1.46	0.08338	0.466000	0.21731	-0.520000	0.08695	-1.306000	0.01239	0.111000	0.23011	0.000000	0.08366	0.026000	0.12556	0.5122:0.0:0.4878:0.0	10.078	0.41546	970	0.06235	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1875	1272.43	80	chr17	75749027	.	A	G,*	1272.43	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-2.281e+00;DP=1730;ExcessHet=0.3300;FS=368.723;InbreedingCoeff=-0.3049;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=3.98;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,15:112:99:0|1:75749022_CCACCATCA_C:163,454,4384,0,3931,3886:75749022	5	0	2	13
chr17	75749027	75749027	A	0	exonic	ITGB4	.	.	.	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	1272.43	80	chr17	75749027	.	A	G,*	1272.43	.	AC=2,1;AF=0.125,0.063;AN=16;BaseQRankSum=-2.281e+00;DP=1730;ExcessHet=0.3300;FS=368.723;InbreedingCoeff=-0.3049;MLEAC=4,2;MLEAF=0.250,0.125;MQ=60.00;MQRankSum=0.00;QD=3.63;ReadPosRankSum=3.98;SOR=8.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:97,0,15:112:99:0|1:75749022_CCACCATCA_C:163,454,4384,0,3931,3886:75749022	5	0	2	13
chr17	75749030	75749030	-	TGGGGTTG	exonic	ITGB4	.	frameshift insertion	ITGB4:NM_001005619:exon26:c.3301_3302insTGGGGTTG:p.I1101Mfs*62	Epidermolysis bullosa of hands and feet, Autosomal dominant;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epidermolysis bullosa, junctional, with pyloric atresia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	157.94	41	chr17	75749030	.	A	ATGGGGTTG	157.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.129e+00;DP=903;ExcessHet=0.0000;FS=61.307;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.45;ReadPosRankSum=2.02;SOR=5.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,15:109:99:0|1:75749022_CCACCATCA_C:172,0,3760:75749022	20	0	1	0
chr17	76008257	76008257	C	-	exonic	EVPL	.	frameshift deletion	EVPL:NM_001320747:exon22:c.5014delG:p.D1672Tfs*17	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1248634402	2.738e-06	2.736e-06	2.724e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1346.94	61	chr17	76008256	.	TC	T	1346.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=843;ExcessHet=0.0000;FS=0.750;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=1.75;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,38:116:99:0|1:76008256_TC_T:1361,0,3113:76008256	20	0	1	0
chr17	76008259	76008259	-	ACGAGA	exonic	EVPL	.	stopgain	EVPL:NM_001320747:exon22:c.5011_5012insTCTCGT:p.K1671_R2055delinsIS	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1191445935	2.738e-06	2.736e-06	2.724e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1388.94	61	chr17	76008259	.	T	TACGAGA	1388.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=841;ExcessHet=0.0000;FS=0.738;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=1.35;SOR=0.591	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,39:117:99:0|1:76008256_TC_T:1403,0,3109:76008256	20	0	1	0
chr17	76008263	76008264	CG	-	exonic	EVPL	.	frameshift deletion	EVPL:NM_001320747:exon22:c.5007_5008del:p.K1671Gfs*73	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396678033	2.739e-06	2.736e-06	2.725e-06	2.752e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1268.94	61	chr17	76008262	.	TCG	T	1268.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.157;DP=835;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=1.40;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,36:112:99:0|1:76008256_TC_T:1283,0,3083:76008256	20	0	1	0
chr17	76008265	76008265	C	A	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.G5006T:p.R1669L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.072	B	0.017	B	0.769	N	1.000	N	1.61	L	-0.33	T	-0.885	T	0.185	T	0.232	0.490	6.658	-6.45	-0.975	0.018	7.788	0.119	0.0198530066722	.	.	.	.	.	.	.	.	.	.	.	.	.	rs780354838	2.739e-06	3.42e-06	2.725e-06	2.753e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.993e-07	1.656e-05	0	1.314e-05	1.313e-05	0	2.69e-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	0.07	0.35349	T	0.285	0.21343	T	0.016	0.17332	B	0.006	0.12133	B	0.769018	0.06586	N	1.116310	1	0.08975	N	2.015	0.55033	M	-0.33	0.68329	T	-3.67	0.70191	D	0.394	0.43514	-0.8855	0.49315	T	0.185	0.53466	T	10	0.10699695	0.19853	T	0.019853	0.42315	T	0.119	0.33137	0.229	0.15556	0.421674004627	0.41782	0.29626835537740853	0.29539	0.242101679886	0.26724	0.187229797244	0.00180	T	0.473962	0.80561	T	-0.140588	0.29797	T	-0.439721	0.28839	T	0.0563036989126868	0.06573	T	0.907909	0.67446	D	0.08864954	0.20687	0.20226793	0.44247	0.08864954	0.20686	0.20226793	0.44246	-5.211	0.39054	T	.	.	0.105	0.19276	B	.;.	.;.	-0.080958	0.03754	0.782	0.89964039397446238	0.19259	0.21420	0.21395	N	AEFDBI	0.428652	0.49209	N	-1.2176641859853	0.04744	0.2147439	-1.32173130607864	0.04150	0.1951475	0.988377905542845	0.31495	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.05	-6.45	0.01743	0.029000	0.13555	-2.135000	0.04161	-0.834000	0.02848	0.000000	0.06391	0.000000	0.08366	0.677000	0.33454	0.0:0.2639:0.1902:0.5459	7.788	0.28268	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1274.98	61	chr17	76008265	.	C	A	1274.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=1.29;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,36:110:99:0|1:76008256_TC_T:1289,0,2999:76008256	20	0	1	0
chr17	76008268	76008268	A	C	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon22:c.T5003G:p.L1668R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.992	D	0.000	D	1.000	D	2.135	M	-0.53	T	-0.111	T	0.494	T	0.844	3.105	16.37	5.05	1.899	9.300	14.793	0.525	0.0522802970551	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455456117	3.424e-06	3.42e-06	2.726e-06	4.129e-06	0.0003	1e-06	7.3e-07	6.096e-05	2.522e-05	0	2.236e-05	0	0	0	0.0003	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.112	0.37037	T	1.0	0.90584	D	0.992	0.80445	D	0.000002	0.62929	D	0.000000	0.999996	0.58761	D	2.93	0.84523	M	-0.53	0.70833	T	-3.03	0.62747	D	0.713	0.71587	-0.1111	0.79842	T	0.494	0.80830	T	10	0.7508799	0.75628	D	0.05228	0.65009	D	0.525	0.79886	0.24	0.17218	0.945249901596	0.94467	0.7434843245554097	0.74294	0.844234834031	0.68210	0.595748364925	0.52304	T	0.650612	0.89394	D	0.276847	0.81044	D	0.159895	0.80800	D	0.966147899627686	0.67490	D	0.962404	0.85901	D	0.58096594	0.71661	0.54128563	0.73488	0.58096594	0.71662	0.54128563	0.73489	-1.217	0.01275	T	.	.	0.183	0.40473	B	.;.	.;.	3.973498	0.58361	24.0	0.9971379931277734	0.81563	0.99789	0.99477	D	AEFDBI	0.955059	0.97263	D	0.644753546995303	0.76028	6.411798	0.5977739232578	0.74781	6.195606	0.999999993578554	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	5.05	5.05	0.67566	9.325000	0.96006	8.148000	0.76703	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.785000	0.37106	1.0:0.0:0.0:0.0	14.793	0.69482	706	0.57215	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1280.98	61	chr17	76008268	.	A	C	1280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.480e-01;DP=831;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.933;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,36:108:99:0|1:76008256_TC_T:1295,0,2915:76008256	20	0	1	0
chr17	76872805	76872805	C	T	exonic	MGAT5B	.	nonsynonymous SNV	MGAT5B:NM_198955:exon1:c.C56T:p.T19M,	.	.	410	1085	27	0	0	27	0.0122895	.	.	2808430	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.005	B	0.003	B	.	.	1.000	N	0	N	0.91	T	-1.032	T	0.036	T	0.034	1.473	10.87	-1.48	-0.174	-0.731	7.368	0.012	0.0889855898824	0.0059	0.00159744	0.0046	0.0019	0.0037	0	0.0021	0.0066	0.0073	0.0019	0.0043014	665	154602	rs191831149	0.0052	0.0052	0.0052	0.0052	0.0092	0.0051	0.0051	0.0072	0.0065	0.0016	0.0027	0.0233	2.519e-05	0.0022	0.0092	0.0055	0.0061	0.0020	0.0043	0.0043	0.0050	0.0035	0.0062	0.0040	0.0039	0.0057	0.0055	0.0015	0.0055	0.0011	0.0256	0	0.0024	0.0170	0.0062	0.0057	0.0017	0.01	0.56456	D	0.025	0.56192	D	0.005	0.12996	B	0.003	0.08700	B	.	.	.	.	1	0.18198	N	.	.	.	0.91	0.44856	T	-0.11	0.08653	N	0.078	0.05287	-1.0316	0.19937	T	0.036	0.15509	T	9	0.0034640431	0.00061	T	0.088986	0.75240	D	0.012	0.01476	.	.	0.0762999501168	0.06990	0.27722707716982	0.27635	0.348775011373	0.36740	.	.	.	.	.	.	-0.699134	0.00037	T	-0.773029	0.02670	T	0.00700139624634681	0.00080	T	0.425557	0.11413	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.179	0.38941	B	.	.	0.268398	0.06464	2.937	0.9569627691559579	0.27582	0.00731	0.03065	N	ALL	0.027653	0.02297	N	-1.28791693912018	0.03820	0.1713302	-1.33540545033923	0.03980	0.1868265	0.999999999904632	0.74766	0.517182	0.21443	0	0.578056	0.33634	0	0.478664	0.07449	1	0.648885	0.59868	0	.	.	3.46	-1.48	0.08286	-0.100000	0.10959	.	.	-0.847000	0.02749	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5778:0.0:0.4222	7.368	0.25959	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	0.02381	1449.98	36	chr17	76872805	.	C	T	1449.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.543e+00;DP=810;ExcessHet=0.0000;FS=0.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-1.059e+00;SOR=0.574	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1464,0,1264	20	0	1	0
chr17	78117304	78117304	T	C	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001374593:exon17:c.A2062G:p.K688E	Epidermodysplasia verruciformis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.197	B	0.111	B	0.024	N	1.000	D	1.825	L	-0.16	T	-0.858	T	0.221	T	0.131	2.272	13.55	-0.773	-0.552	1.435	6.291	0.077	0.0611557229221	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866334709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.079	0.42086	T	0.008	0.29559	B	0.028	0.31539	B	0.024118	0.26321	N	0.394418	0.680245	0.81001	D	2.11	0.58565	M	-0.16	0.70717	T	-1.96	0.45404	N	0.335	0.39356	-0.8581	0.51398	T	0.221	0.58447	T	10	0.17524296	0.32446	T	0.061156	0.68238	D	0.077	0.22490	0.519	0.62066	0.308904156042	0.30501	0.45247322683678265	0.45165	0.257828214708	0.28344	0.377936661243	0.21962	T	0.022538	0.17359	T	-0.128937	0.31666	T	-0.422986	0.30734	T	0.232320442795753	0.22061	T	0.643236	0.27494	T	0.13025652	0.30399	0.09998845	0.23892	0.13025652	0.30398	0.09998845	0.23892	-8.628	0.65274	D	.	.	0.137	0.32202	B	.;.;.;.	.;.;.;.	2.290488	0.29297	18.08	0.97895055103656137	0.36697	0.94379	0.60978	D	AEFDGBHCI	0.271250	0.38714	N	-0.619368829890338	0.18363	0.9527557	-0.640789080927716	0.18449	0.9856243	0.999781861616834	0.43007	0.743674	0.98306	0	0.702456	0.74545	0	0.643519	0.47002	0	0.584449	0.35598	0	.	.	4.4	-0.773	0.10440	1.585000	0.36210	1.080000	0.23883	0.651000	0.53179	0.530000	0.27189	0.864000	0.27519	0.670000	0.33251	0.0:0.1481:0.3872:0.4648	6.291	0.20267	835	0.38313	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1678.98	33	chr17	78117304	.	T	C	1678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.735e+00;DP=833;ExcessHet=0.0000;FS=3.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=-2.900e-01;SOR=1.002	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1693,0,1565	20	0	1	0
chr17	80090222	80090346	GGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	-	exonic	CCDC40	.	frameshift deletion	CCDC40:NM_001243342:exon18:c.2916_3040del:p.T982Qfs*70,	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.074e-05	8.547e-05	4.897e-05	7.234e-05	0.0004	4.629e-05	4.131e-05	0.0002	0.0002	5.962e-05	0.0001	0.0001	0.0004	7.497e-05	0	3.796e-05	8.809e-05	7.133e-05	3.551e-05	7.568e-05	4.149e-05	2.919e-05	0.0002	1.338e-05	8.54e-06	1.231e-05	6.41e-06	2.656e-05	0	0	0	0.0002	0	0	4.637e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	147.03	72	chr17	80090221	.	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	147.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.09;DP=2574;ExcessHet=0.1072;FS=3.869;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.31;MQRankSum=1.33;QD=0.47;ReadPosRankSum=-8.297e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:105,56,0:161:99:161,0,4195,474,4287,4761	19	0	1	0
chr17	80090221	80090346	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	147.03	72	chr17	80090221	.	CGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	147.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.09;DP=2574;ExcessHet=0.1072;FS=3.869;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.31;MQRankSum=1.33;QD=0.47;ReadPosRankSum=-8.297e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:105,56,0:161:99:161,0,4195,474,4287,4761	19	0	1	0
chr17	80090233	80090233	A	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3576.28	72	chr17	80090233	.	A	G,*	3576.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-1.180e+00;DP=2625;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.83;MQRankSum=6.42;QD=7.12;ReadPosRankSum=0.826;SOR=0.661	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:105,0,56:161:99:.:.:161,474,4761,0,4287,4195	18	0	2	0
chr17	80090253	80090346	CGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	2	1467	32	5	16	58	0.0141129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1241.03	72	chr17	80090253	.	CGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAA	C,*	1241.03	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=0.596;DP=2514;ExcessHet=0.1072;FS=2.643;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.62;MQRankSum=0.303;QD=4.07;ReadPosRankSum=-3.371e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/2:105,0,56:161:99:161,474,4761,0,4287,4195	19	0	1	0
chr17	80090265	80090265	G	0	exonic	CCDC40	.	.	.	Ciliary dyskinesia, primary, 15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	34612.98	75	chr17	80090265	.	G	A,*	34612.98	.	AC=18,2;AF=0.643,0.071;AN=28;BaseQRankSum=2.00;DP=2590;ExcessHet=0.6050;FS=1.909;InbreedingCoeff=0.1309;MLEAC=24,3;MLEAF=0.857,0.107;MQ=52.75;MQRankSum=-4.152e+00;QD=21.84;ReadPosRankSum=0.657;SOR=0.582	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:105,0,56:161:99:.:.:161,474,4761,0,4287,4195	1	7	4	7
chr17	80383801	80383801	A	C	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon59:c.A14195C:p.K4732T,	.	.	0	1519	3	0	0	3	0.000986518	.	.	206598	See_cases|not_provided|Moyamoya_disease_2	.|MedGen:C3661900|MONDO:MONDO:0011784,MedGen:C1846689,OMIM:607151,Orphanet:2573	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.514	P	0.113	B	0.928	N	1.000	N	1.61	L	0.67	T	-1.026	T	0.087	T	0.303	0.312	5.689	-3.21	-0.493	1.356	6.212	0.065	0.0197892173359	0.0004	0.00119808	0.0009	0	0.0003	0	0	0.0004	0	0.0053	0.0008344	129	154602	rs148776624	0.0004	0.0004	0.0004	0.0005	0.0036	0.0004	0.0004	0.0033	0.0031	5.974e-05	0.0003	0.0011	2.519e-05	0	0.0019	0.0002	0.0008	0.0036	0.0003	0.0003	0.0002	0.0004	0.0046	0.0002	0.0002	0.0031	0.0026	0	0	0.0002	0.0006	0	0	0	0.0003	0.0009	0.0046	0.071	0.35165	T	0.094	0.39645	T	.	.	.	.	.	.	0.927962	0.07517	N	1.032410	1	0.08975	N	.	.	.	0.67	0.52187	T	-2.07	0.47344	N	0.189	0.20793	-1.0259	0.21788	T	0.087	0.33857	T	10	0.0052307546	0.00114	T	0.019789	0.42241	T	0.065	0.18881	.	.	0.232513804876	0.22884	.	.	0.185846097654	0.20895	0.265518128872	0.05566	T	0.031759	0.22187	T	-0.465662	0.00906	T	-0.442506	0.28528	T	0.0244913458475225	0.01207	T	0.564843	0.19943	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.13362	B	.;.	.;.	0.087563	0.04920	1.497	0.83730463766838881	0.14888	0.28534	0.23580	N	AEFBCI	0.128930	0.24690	N	-0.953154114446409	0.09622	0.4562016	-1.08026220582413	0.08089	0.3962324	0.196319604012112	0.18064	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.16	-3.21	0.04823	1.377000	0.33923	-0.673000	0.07925	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.679000	0.33513	0.4449:0.3448:0.2102:0.0	6.212	0.19848	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	1	0	0	1	0	0	0	0.02381	1235.98	37	chr17	80383801	.	A	C	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.088e+00;DP=852;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.04;ReadPosRankSum=-2.378e+00;SOR=0.697	GT:AD:DP:GQ:PL	0/1:59,53:112:99:1250,0,1542	20	0	1	0
chr17	81445621	81445621	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001291324:exon10:c.G3103A:p.A1035T	.	.	418	1089	14	1	0	16	0.00729262	.	.	2818087	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.73	T	0.005	B	0.003	B	0.503	N	1.000	N	-0.345	N	2.73	T	-0.973	T	0.012	T	0.184	-0.060	3.707	-3.93	-1.100	-0.772	4.382	0.013	.	0.0003	0.000399361	0.0038	0	0.0014	0	0	0.0011	0.0105	0.0084	0.0007568	117	154602	rs368906845	0.0013	0.0013	0.0008	0.0017	0.0077	0.0012	0.0012	0.0071	0.0069	0.0002	0.0005	0.0015	9.043e-05	4.137e-05	0.0068	0.0004	0.0009	0.0077	0.0005	0.0005	0.0004	0.0006	0.0070	0.0004	0.0004	0.0052	0.0045	0	0	0.0003	0.0003	0	0	0.0136	0.0004	0	0.0070	1.0	0.00964	T	0.644	0.09931	T	0.002	0.12996	B	0.001	0.08700	B	0.503324	0.05105	N	1.424980	1	0.08975	N	0.46	0.12951	N	2.73	0.11839	T	-0.01	0.07155	N	0.075	0.04913	-0.9727	0.36627	T	0.012	0.04700	T	10	0.004210353	0.00084	T	.	.	.	0.013	0.01715	.	.	0.0138822411134	0.00435	0.09676238022195217	0.09608	0.0816453080078	0.09195	0.281145811081	0.07652	T	0.083094	0.36976	T	-0.656311	0.00066	T	-0.710113	0.05289	T	0.00888549965512409	0.00110	T	0.433057	0.11799	T	0.016313279	0.00190	0.03705782	0.03278	0.016313279	0.00189	0.03705782	0.03278	-4.257	0.27570	T	.	.	0.070	0.03588	B	.;.	.;.	-0.581170	0.01623	0.112	0.89772947412604487	0.19088	0.06100	0.12076	N	AEFBCI	0.058839	0.11068	N	-1.6186443953941	0.01174	0.05104111	-1.63677612583827	0.01446	0.06539116	0.130293067513638	0.17077	0.646311	0.45356	0	0.547309	0.14657	0	0.600433	0.31921	0	0.699875	0.68795	0	.	.	4.39	-3.93	0.03868	-2.317000	0.01203	-1.550000	0.05191	-0.272000	0.06708	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2954:0.0:0.4448:0.2598	4.382	0.10729	.	.	.;.	.	.	.	.	.	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	0.02381	665.98	34	chr17	81445621	.	G	A	665.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.642;DP=794;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.380;SOR=0.765	GT:AD:DP:GQ:PL	0/1:24,25:49:99:680,0,603	20	0	1	0
chr17	82253179	82253179	G	C	exonic	CSNK1D	.	nonsynonymous SNV	CSNK1D:NM_001363749:exon4:c.C402G:p.F134L	Advanced sleep-phase syndrome, familial, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.345	M	0.05	T	-0.291	T	0.378	T	0.868	1.497	10.95	-2.31	-0.428	1.091	14.272	0.585	0.294920260008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.976	0.74843	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.075	0.57047	M	0.05	0.61923	T	-5.77	0.87911	D	0.856	0.86191	-0.2906	0.75249	T	0.378	0.73572	T	10	0.8558959	0.84786	D	0.29492	0.90689	D	0.585	0.83360	0.713	0.84872	0.794112205518	0.79219	0.8391474319513283	0.83874	2.45932965126	0.97411	0.943554639816	0.99578	D	0.463857	0.79964	T	0.245163	0.78146	D	0.114383	0.77862	D	0.996541440486908	0.89565	D	0.972453	0.90829	D	0.9611103	0.97392	0.90685	0.95464	0.9611103	0.97392	0.90685	0.95465	-13.686	0.91992	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.476840	0.48528	22.6	0.94285568772606809	0.24584	0.90166	0.51131	D	AEFDGBHCI	0.511037	0.53983	D	-0.0133870369408241	0.41248	2.46393	-0.161674069915806	0.32961	1.880536	0.999992497670314	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.55	-2.31	0.06380	1.140000	0.31128	1.624000	0.27703	-0.244000	0.07312	1.000000	0.71638	1.000000	0.68203	0.797000	0.37605	0.285:0.0:0.715:0.0	14.272	0.65705	.	.	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	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1818	417.46	117	chr17	82253179	.	G	C	417.46	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-4.148e+00;DP=3037;ExcessHet=0.6776;FS=215.249;InbreedingCoeff=-0.2728;MLEAC=6;MLEAF=0.273;MQ=60.00;MQRankSum=0.00;QD=0.50;ReadPosRankSum=1.94;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:145,59:204:91:.:.:91,0,2519	7	0	4	10
chr17	82586200	82586200	G	A	exonic	FOXK2	.	nonsynonymous SNV	FOXK2:NM_004514:exon7:c.G1576A:p.V526M,	.	.	.	.	.	.	.	.	.	1.0000	0.976	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.941	P	0.771	P	0.000	D	1.000	D	1.525	L	-3.35	D	0.599	D	0.808	D	0.702	2.972	15.91	5.12	2.648	6.853	18.728	0.601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	0.45393	D	0.149	0.32568	T	0.941	0.52883	P	0.595	0.50587	P	0.000004	0.62929	D	0.061410	1	0.81001	D	2.19	0.61577	M	-3.35	0.94022	D	-1.42	0.34992	N	0.673	0.68082	0.599	0.91890	D	0.808	0.93533	D	10	0.78622496	0.78270	D	0.160029	0.84011	D	0.601	0.84237	0.353	0.35246	0.844835477414	0.84335	0.45515417182609946	0.45433	0.158246879957	0.17873	0.646238565445	0.59451	T	0.243245	0.61214	T	0.264364	0.79931	D	0.141964	0.79673	D	0.971274137496948	0.69256	D	0.963704	0.86510	D	0.18364947	0.39642	0.1284259	0.30897	0.18364947	0.39642	0.1284259	0.30896	-8.086	0.61655	D	.	.	0.299	0.52889	B	.	.	5.573957	0.92244	32	0.99809682586807391	0.89353	0.97752	0.76876	D	AEFDGBCIJ	0.868439	0.78856	D	0.338164635219055	0.58117	3.982265	0.296496544479542	0.55335	3.696615	0.999999902859379	0.74766	0.751926	0.98777	0	0.702456	0.74545	0	0.639134	0.45391	0	0.711	0.71501	0	.	.	5.12	5.12	0.69459	5.403000	0.66083	11.633000	0.93719	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.180000	0.21296	0.0:0.0:1.0:0.0	18.728	0.91687	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1350.98	33	chr17	82586200	.	G	A	1350.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.61;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.37;MQRankSum=-3.470e-01;QD=14.68;ReadPosRankSum=0.217;SOR=0.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,39:92:99:0|1:82586200_G_A:1365,0,1763:82586200	20	0	1	0
chr18	2732448	2732448	G	A	exonic	SMCHD1	.	nonsynonymous SNV	SMCHD1:NM_015295:exon25:c.G3232A:p.E1078K,	Bosma arhinia microphthalmia syndrome, Autosomal dominant;Fascioscapulohumeral muscular dystrophy 2, digenic	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.919	P	0.395	B	0.000	D	0.960	D	1.155	L	1.86	T	-1.106	T	0.063	T	0.774	3.215	16.77	5.27	2.437	5.163	18.885	0.179	0.0252814111583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.229	0.18371	T	0.046	0.49120	D	0.919	0.50927	P	0.395	0.44317	B	0.000043	0.53742	D	0.122583	0.960458	0.38181	D	1.175	0.29870	L	1.86	0.24285	T	-1.2	0.30555	N	0.386	0.42737	-1.1062	0.03417	T	0.063	0.26244	T	10	0.31736785	0.49147	T	0.025281	0.48255	D	0.179	0.44899	0.395	0.42099	0.171220215726	0.16700	0.5070269732976612	0.50624	0.249247192868	0.27497	0.647655010223	0.59653	T	0.118561	0.43946	T	0.0465045	0.57891	T	-0.170976	0.57354	T	0.877296686172485	0.52719	D	0.840116	0.51512	T	0.23279612	0.46073	0.16777822	0.38688	0.23279612	0.46073	0.16777822	0.38688	-6.096	0.47076	T	0.16198928617406946	0.19868	0.217	0.44720	B	.	.	3.509325	0.49139	22.7	0.99874730886920349	0.95160	0.90737	0.52166	D	AEFGBI	0.383586	0.46503	N	0.400945318371357	0.61476	4.349073	0.476679891659967	0.66448	4.953359	0.999639206483282	0.41205	0.732398	0.92422	0	0.724815	0.89359	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.27	5.27	0.73797	5.240000	0.65201	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.885	0.92343	561	0.71236	.	.	.	.	.	.	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	0.07895	153.77	59	chr18	2732448	.	G	A	153.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.508e+00;DP=1240;ExcessHet=0.3300;FS=224.230;InbreedingCoeff=-0.1187;MLEAC=3;MLEAF=0.079;MQ=60.00;MQRankSum=0.00;QD=0.55;ReadPosRankSum=2.56;SOR=8.885	GT:AD:DP:GQ:PL	0/1:73,31:104:54:54,0,1150	16	0	3	2
chr18	2937701	2937701	T	C	exonic	LPIN2	.	nonsynonymous SNV	LPIN2:NM_001375808:exon7:c.A1159G:p.K387E	Majeed syndrome	.	0	1479	38	5	0	48	0.0159681	.	.	103705	not_specified|not_provided|Autoinflammatory_syndrome|Psoriasis|Majeed_syndrome	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MONDO:MONDO:0005083,MedGen:C0033860,OMIM:PS177900|MONDO:MONDO:0012316,MedGen:C1864997,OMIM:609628,Orphanet:77297	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.45	T	0.469	P	0.169	B	0.000	D	1.000	D	2.175	M	-1.46	T	-0.324	T	0.429	T	0.883	3.639	18.51	5.74	2.193	5.006	14.621	0.525	.	0.0006	0.00678914	0.0043	0.0001	0.0009	0	0	0.0012	0.0056	0.0257	0.003771	583	154602	rs104895501	0.0023	0.0023	0.0016	0.0031	0.0260	0.0023	0.0022	0.0251	0.0247	0.0003	0.0013	0.0002	5.038e-05	9.37e-05	0.0095	0.0008	0.0025	0.0260	0.0017	0.0017	0.0012	0.0023	0.0295	0.0016	0.0015	0.0255	0.0240	0.0001	0	0.0016	0.0003	0	9.423e-05	0.0034	0.0012	0.0033	0.0295	0.106	0.29688	T	0.365	0.16717	T	0.469	0.36524	P	0.169	0.35248	B	0.000000	0.84330	D	0.042032	0.999997	0.58761	D	2.455	0.71248	M	-1.46	0.80983	T	-2.09	0.47683	N	0.513	0.54409	-0.3239	0.74313	T	0.429	0.77147	T	10	0.008249849	0.00187	T	.	.	.	0.525	0.79886	.	.	0.655422639558	0.65255	0.4558067673782812	0.45498	0.476885664701	0.46806	0.49358445406	0.37935	T	0.096917	0.39921	T	-0.00843234	0.50486	T	0.234708	0.84894	D	0.0146289846892014	0.00302	T	0.927307	0.73215	D	0.23034674	0.45788	0.22966772	0.48045	0.23515597	0.46347	0.27323538	0.53240	-5.471	0.41596	T	0.3718643203656596	0.46728	0.601	0.68900	P	.	.	3.146632	0.42582	21.6	0.99700605470064441	0.80591	0.99098	0.91196	D	AEFBI	0.605472	0.59617	D	0.21220550750028	0.51791	3.357567	0.319439671550726	0.56681	3.831987	0.999999995646822	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	5.225000	0.65124	6.120000	0.53774	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0:0.0:0.0:1.0	14.621	0.68184	741	0.52966	.	.	.	.	.	.	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	0.04762	1479.11	36	chr18	2937701	.	T	C	1479.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.46;DP=775;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=0.379;SOR=0.754	GT:AD:DP:GQ:PL	0/1:32,26:58:99:692,0,902	19	0	2	0
chr18	6032198	6032198	T	C	exonic	L3MBTL4	.	nonsynonymous SNV	L3MBTL4:NM_001365767:exon17:c.A1522G:p.K508E,	.	.	576	945	1	0	0	1	0.000528821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	2.97	T	-0.991	T	0.025	T	0.037	-1.349	0.029	-0.245	-1.193	-0.918	.	0.025	.	.	.	0.02	0	.	0	.	0	.	0.0312	7.12e-05	11	154602	rs757189036	0.0004	0.0003	0.0003	0.0006	0.0046	0.0004	0.0003	0.0035	0.0032	0	0	0	0	0	0.0013	0.0002	0.0007	0.0046	0.0003	0.0003	0.0002	0.0003	0.0033	0.0002	0.0002	0.0021	0.0017	9.687e-05	0	0.0002	0	0	9.506e-05	0	0.0002	0.0024	0.0033	0.024	0.47745	D	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.97	0.09450	T	-0.42	0.14193	N	0.05	0.02179	-0.9907	0.32424	T	0.025	0.10553	T	5	0.004698217	0.00099	T	.	.	.	0.025	0.05312	0.319	0.29741	0.101711395817	0.09552	.	.	.	.	.	.	.	.	.	.	-0.743923	0.00019	T	-0.843476	0.01048	T	0.0155994012005026	0.00356	T	0.379762	0.09155	T	.	.	.	.	.	.	.	.	-3.344	0.14311	T	.	.	0.117	0.23709	B	.	.	0.188871	0.05752	2.197	0.19178078910746202	0.00636	0.00109	0.00694	N	AEFI	0.031167	0.03277	N	-1.12984368217638	0.06118	0.2807782	-1.37626770303332	0.03506	0.1637023	2.45960160297604E-4	0.06141	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.122	-0.245	0.12384	-0.699000	0.05188	-0.839000	0.07224	-0.572000	0.04779	0.129000	0.23328	0.019000	0.20708	0.188000	0.21541	.	.	.	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	96.37	24	chr18	6032198	.	T	C	96.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.383e+00;DP=365;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0281;MLEAC=1;MLEAF=0.025;MQ=59.08;MQRankSum=0.674;QD=9.64;ReadPosRankSum=0.601;SOR=0.250	GT:AD:DP:GQ:PL	0/1:5,5:10:99:110,0,144	19	0	1	1
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	89848.01	520	chr18	9887397	.	C	T,*	89848.01	.	AC=14,15;AF=0.333,0.357;AN=42;BaseQRankSum=1.52;DP=12043;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=14,15;MLEAF=0.333,0.357;MQ=59.66;MQRankSum=-1.550e-01;QD=11.05;ReadPosRankSum=-6.600e-02;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:322,243,0:565:99:.:.:6265,0,8759,7705,10023,20534	3	2	4	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.455	P	0.137	B	.	.	1.000	N	1.495	L	1.38	T	-1.046	T	0.060	T	0.15	-1.338	0.030	-0.976	-0.290	0.960	4.177	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.2857	6662.91	35	chr18	14513679	.	T	G	6662.91	.	AC=12;AF=0.286;AN=42;BaseQRankSum=4.54;DP=3722;ExcessHet=9.6308;FS=15.336;InbreedingCoeff=-0.4158;MLEAC=12;MLEAF=0.286;MQ=50.97;MQRankSum=-9.346e+00;QD=2.29;ReadPosRankSum=-3.404e+00;SOR=2.155	GT:AD:DP:GQ:PL	0/1:160,51:211:99:1063,0,4399	9	0	12	0
chr18	31388386	31388386	C	T	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon4:c.C236T:p.S79L	Hypotrichosis 6, Autosomal recessive	.	1	1486	35	0	0	35	0.0116395	.	.	715937	not_provided|DSG4-related_disorder|Hypotrichosis_6	MedGen:C3661900|.|MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.054	B	0.046	B	0.727	N	1.000	N	1.28	L	0.74	T	-0.961	T	0.073	T	0.083	-0.082	3.600	-1.72	-0.177	-0.768	6.536	0.010	.	0.0048	0.00439297	0.0042	0.0046	0.0027	0	0	0.0051	0.0044	0.0053	0.0040297	623	154602	rs36040686	0.0032	0.0032	0.0030	0.0033	0.0191	0.0031	0.0031	0.0162	0.0151	0.0050	0.0033	0.0436	0	0.0003	0.0191	0.0020	0.0065	0.0048	0.0038	0.0038	0.0039	0.0037	0.0060	0.0035	0.0034	0.0043	0.0037	0.0031	0	0.0042	0.0542	0	0.0004	0.0340	0.0021	0.0057	0.0060	0.264	0.16358	T	0.155	0.31936	T	0.054	0.22658	B	0.046	0.24676	B	0.727362	0.06349	N	1.212930	0.999999	0.08975	N	0.915	0.23335	L	0.74	0.50459	T	-1.75	0.41428	N	0.107	0.10340	-0.9614	0.38916	T	0.073	0.29675	T	10	0.0033466518	0.00058	T	.	.	.	0.010	0.01040	.	.	0.276898752692	0.27294	0.13389012196261588	0.13313	0.029762402894	0.03065	0.298493921757	0.10177	T	0.108723	0.42200	T	-0.647278	0.00075	T	-0.698542	0.05906	T	0.00208938657306135	0.00022	T	0.162684	0.01721	T	0.038331885	0.05086	0.049947403	0.07739	0.03988346	0.05589	0.039548468	0.04072	-2.372	0.04964	T	.	.	0.072	0.07224	B	.;.	.;.	-0.453279	0.02022	0.181	0.92623994699646028	0.22094	0.01138	0.04130	N	AEFI	0.026801	0.02075	N	-1.0116172173723	0.08362	0.3917972	-1.0389198890453	0.08939	0.4420613	0.00372337501722856	0.10253	0.487112	0.14033	0	0.573888	0.26702	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.73	-1.72	0.07671	-1.225000	0.03066	-3.198000	0.02978	-0.850000	0.02721	0.000000	0.06391	0.000000	0.08366	0.025000	0.12405	0.1368:0.358:0.0:0.5052	6.536	0.21550	643	0.63827	Cadherin-like|Cadherin-like;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	2049.11	39	chr18	31388386	.	C	T	2049.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.76;DP=888;ExcessHet=0.1072;FS=4.314;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=1.23;SOR=1.023	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1175,0,1782	19	0	2	0
chr18	31399464	31399464	G	A	exonic	DSG4	.	nonsynonymous SNV	DSG4:NM_001134453:exon9:c.G1198A:p.G400R	Hypotrichosis 6, Autosomal recessive	.	0	1484	38	0	0	38	0.0126414	.	.	576181	Hypotrichosis_6|not_provided|DSG4-related_disorder	MONDO:MONDO:0011932,MedGen:C1842839,OMIM:607903,Orphanet:55654|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.52	T	1.0	D	0.992	D	0.077	N	0.940	D	1.06	L	0.35	T	-0.826	T	0.188	T	0.848	1.657	11.50	5.33	2.649	3.133	12.717	0.179	.	0.0050	0.00439297	0.0043	0.0046	0.0027	0	0	0.0052	0.0044	0.0058	0.0040685	629	154602	rs35378785	0.0033	0.0033	0.0031	0.0034	0.0203	0.0032	0.0032	0.0173	0.0162	0.0051	0.0033	0.0435	0	0.0003	0.0203	0.0021	0.0067	0.0055	0.0039	0.0039	0.0039	0.0039	0.0068	0.0036	0.0035	0.0050	0.0044	0.0031	0	0.0042	0.0541	0	0.0004	0.0408	0.0022	0.0057	0.0068	0.74	0.03696	T	0.19	0.28860	T	0.531	0.90584	P	0.247	0.80445	B	0.077327	0.21110	N	0.246143	0.939708	0.37270	D	0.495	0.13372	N	0.35	0.59037	T	-0.51	0.15986	N	0.689	0.69474	-0.8261	0.53550	T	0.188	0.53827	T	10	0.0041315258	0.00081	T	.	.	.	0.179	0.44899	0.414	0.45216	0.800236202846	0.79837	0.3010113199831233	0.30014	0.252222878455	0.27793	0.465308904648	0.34037	T	0.102842	0.41094	T	-0.180223	0.23702	T	-0.0276499	0.68524	D	0.0494035485741406	0.05395	T	0.692831	0.31596	T	0.10689115	0.25275	0.13068023	0.31396	0.097276576	0.22927	0.090244345	0.21151	-7.606	0.58353	D	.	.	0.346	0.56311	A	.;.	.;.	2.539861	0.32855	19.17	0.9951036776297365	0.68618	0.73441	0.35924	D	AEFDGBCI	0.203974	0.33044	N	0.267983728041288	0.54534	3.618692	0.339373258754207	0.57870	3.954535	0.999999994021206	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.33	5.33	0.75683	3.309000	0.51613	2.699000	0.34147	0.676000	0.76740	0.291000	0.25242	1.000000	0.68203	0.979000	0.57723	0.0758:0.0:0.9242:0.0	12.717	0.56492	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	4946.11	33	chr18	31399464	.	G	A	4946.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.050e-01;DP=1063;ExcessHet=0.1072;FS=2.654;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-1.356e+00;SOR=0.837	GT:AD:DP:GQ:PL	0/1:82,98:180:99:2600,0,2238	19	0	2	0
chr18	31541297	31541297	G	A	exonic	DSG2	.	nonsynonymous SNV	DSG2:NM_001943:exon13:c.G1984A:p.A662T,	Arrhythmogenic right ventricular dysplasia 10, Autosomal dominant;Cardiomyopathy, dilated, 1BB	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.85	M	-0.92	T	0.372	D	0.658	D	0.592	5.198	33	5.86	2.937	6.565	20.563	0.426	0.0891150511824	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186896680	1.368e-06	1.368e-06	2.723e-06	0	2.236e-05	2.3e-07	9e-08	.	.	0	2.236e-05	0	0	0	0	8.995e-07	0	0	6.575e-06	6.568e-06	1.285e-05	0	6.549e-05	0	0	.	.	0	0	6.549e-05	0	0	0	0	0	0	0	0.0	0.91255	D	0.021	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000006	0.62929	D	0.000000	0.999817	0.49394	D	3.05	0.86762	M	-0.92	0.75108	T	-3.52	0.68412	D	0.56	0.58458	0.372	0.88677	D	0.658	0.88122	D	10	0.69900656	0.72324	D	0.089115	0.75265	D	0.426	0.73372	0.21	0.12781	0.956247277456	0.95578	0.9288824395156199	0.92866	0.414509619234	0.42131	0.434575915337	0.29834	T	0.621993	0.88164	D	0.0720377	0.61095	D	-0.051434	0.66924	D	0.993339002132416	0.84094	D	0.858914	0.54988	D	0.6406292	0.74865	0.679	0.81137	0.6406292	0.74866	0.679	0.81138	-8.715	0.65844	D	0.8609242873125713	0.92441	0.562	0.67302	A	.	.	4.707566	0.75589	26.4	0.99913393119932348	0.98238	0.99258	0.93561	D	AEFBI	0.734853	0.68086	D	0.925276561188041	0.92941	11.723	0.887186071652214	0.94988	13.21417	0.999999990424555	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	6.638000	0.74166	11.800000	0.96626	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:1.0:0.0	20.563	0.99337	702	0.57624	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.4762	4225.93	56	chr18	31541297	.	G	A	4225.93	.	AC=20;AF=0.476;AN=42;BaseQRankSum=-4.940e-01;DP=1248;ExcessHet=43.6797;FS=377.368;InbreedingCoeff=-0.9302;MLEAC=20;MLEAF=0.476;MQ=60.00;MQRankSum=0.00;QD=3.76;ReadPosRankSum=0.537;SOR=12.605	GT:AD:DP:GQ:PL	0/1:29,25:54:99:193,0,407	1	0	20	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.958	D	0.563	P	0.066	N	1.000	N	1.525	L	0.96	T	-1.043	T	0.086	T	0.141	-0.215	2.958	0.957	-0.051	1.229	2.399	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-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	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	2337.79	46	chr18	37067196	.	T	C	2337.79	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-6.944e+00;DP=2815;ExcessHet=3.5521;FS=193.128;InbreedingCoeff=-0.2495;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=1.16;ReadPosRankSum=1.87;SOR=12.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:206,61:267:99:.:.:425,0,4730	13	0	8	0
chr18	49097484	49097484	T	C	exonic	DYM	.	nonsynonymous SNV	DYM:NM_001374444:exon10:c.A1025G:p.Q342R	Dyggve-Melchior-Clausen disease, Autosomal recessive;Smith-McCort dysplasia, Autosomal recessive	.	0	1509	12	1	0	14	0.00461741	.	.	268448	DYM-related_disorder|Dyggve-Melchior-Clausen_syndrome|not_provided|Smith-McCort_dysplasia	.|MONDO:MONDO:0009130,MedGen:C0265286,OMIM:223800,Orphanet:239|MedGen:C3661900|MONDO:MONDO:0015799,MedGen:C1846431,OMIM:PS607326,Orphanet:178355	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.53	T	0.985	D	0.982	D	0.000	D	1.000	D	1.575	L	-1.63	D	0.035	D	0.619	D	0.71	2.555	14.50	5.61	2.254	7.142	15.776	0.601	0.0749595431289	0.0007	0.000199681	0.0008	0	0.0011	0	0	0.0011	0.0022	0.0005	0.000718	111	154602	rs146000214	0.0005	0.0005	0.0005	0.0005	0.0099	0.0005	0.0005	0.0078	0.0071	0.0004	0.0011	0.0057	0	0	0.0099	0.0003	0.0011	0.0005	0.0006	0.0006	0.0006	0.0007	0.0013	0.0005	0.0005	0.0009	0.0007	4.808e-05	0	0.0013	0.0081	0	0	0.0068	0.0006	0.0019	0.0002	0.311	0.13971	T	0.088	0.42086	T	0.985	0.61118	D	0.982	0.75477	D	0.000000	0.84330	D	0.053248	0.999992	0.58761	D	1.26	0.31868	L	-1.63	0.82440	D	-1.85	0.43334	N	0.649	0.68429	0.035	0.82948	D	0.619	0.86551	D	10	0.032930166	0.01456	T	0.07496	0.72171	D	0.601	0.84237	.	.	0.905006261136	0.90405	0.16255333211799364	0.16175	0.137182170411	0.15472	0.622119307518	0.56028	T	0.504	0.82327	D	-0.110243	0.34727	T	0.0184262	0.71528	D	0.0761773277633959	0.09491	T	0.914509	0.74459	D	0.2621259	0.49273	0.2897443	0.54995	0.30464163	0.53318	0.2941475	0.55443	-5.322	0.42269	T	0.15562819880542814	0.18669	0.102	0.17827	B	.;.	.;.	3.798489	0.54714	23.5	0.91724628571322353	0.21021	0.96733	0.70648	D	AEFI	0.853291	0.77024	D	0.457735142517006	0.64645	4.723594	0.447166928782765	0.64534	4.71088	0.999999993021079	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.61	5.61	0.85347	6.803000	0.74969	7.904000	0.73702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	15.776	0.77985	933	0.16026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1509.98	36	chr18	49097484	.	T	C	1509.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.670e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.50;ReadPosRankSum=0.318;SOR=0.699	GT:AD:DP:GQ:PL	0/1:90,69:159:99:1524,0,2202	20	0	1	0
chr18	51177112	51177112	A	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.T1219C:p.F407L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.997	D	0.97	D	0.000	D	1.000	D	2.14	M	1.12	T	-0.636	T	0.251	T	0.859	4.345	22.9	5.97	2.288	9.339	15.443	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.15	998.11	35	chr18	51177112	.	A	G	998.11	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-2.966e+00;DP=1568;ExcessHet=1.7912;FS=106.025;InbreedingCoeff=-0.1831;MLEAC=6;MLEAF=0.150;MQ=60.00;MQRankSum=0.00;QD=1.17;ReadPosRankSum=0.704;SOR=9.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,26:184:99:0|1:51177112_A_G:248,0,6370:51177112	14	0	6	1
chr18	51177115	51177115	C	T	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216A:p.D406N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.14	M	0.8	T	-0.471	T	0.319	T	0.142	4.835	27.5	5.97	2.836	7.818	19.210	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,13,9:174:99:.:.:182,0,4020,174,4206,6593	16	0	3	1
chr18	51177115	51177115	C	G	exonic	MEX3C	.	nonsynonymous SNV	MEX3C:NM_016626:exon2:c.G1216C:p.D406H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.000	D	1.000	D	2.14	M	0.75	T	-0.482	T	0.319	T	0.948	4.171	21.6	5.97	2.836	7.818	19.210	0.484	0.0331809939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.81	0.81869	M	0.75	0.50192	T	-6.75	0.92692	D	0.812	0.80767	-0.4817	0.69305	T	0.319	0.68822	T	10	0.7835201	0.78052	D	0.033181	0.54798	D	0.484	0.77335	0.424	0.46857	0.840214349164	0.83868	.	.	1.91785441749	0.92971	0.830285191536	0.86606	D	0.50707	0.82498	D	0.312169	0.83907	D	0.210633	0.83698	D	0.990333229866762	0.80552	D	0.973803	0.91457	D	0.8829649	0.89912	0.8398288	0.90827	0.8829649	0.89914	0.8398288	0.90828	-12.355	0.86537	D	.	.	0.996	0.96051	P	.;.	.;.	5.487575	0.91449	32	0.99644427409600334	0.76881	0.99289	0.94010	D	AEFBI	0.907600	0.86183	D	0.896449868337804	0.91583	10.95824	0.895090889778716	0.95356	13.54367	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	1330.19	111	chr18	51177115	.	C	T,G	1330.19	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=-4.762e+00;DP=2221;ExcessHet=0.6776;FS=112.002;InbreedingCoeff=-0.1305;MLEAC=3,1;MLEAF=0.075,0.025;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.366;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:152,13,9:174:99:.:.:182,0,4020,174,4206,6593	16	0	3	1
chr18	63318540	63318540	C	T	exonic	BCL2	.	nonsynonymous SNV	BCL2:NM_000633:exon2:c.G127A:p.A43T	Leukemia/lymphoma, B-cell	.	0	1490	31	1	0	33	0.0109525	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.994	D	0.664	P	0.585	U	0.999	N	0.55	N	3.66	T	-0.983	T	0.001	T	0.099	0.282	5.526	1.57	0.127	0.209	7.734	0.064	.	0.0007	0.0397364	0.0190	0.0015	0.0005	0.0904	0	0.0003	0.0099	0.0917	0.0160153	2476	154602	rs1800477	0.0071	0.0073	0.0050	0.0093	0.0790	0.0070	0.0070	0.0774	0.0768	0.0004	0.0006	0	0.0681	2.097e-05	0.0032	0.0002	0.0128	0.0790	0.0068	0.0068	0.0052	0.0085	0.0896	0.0064	0.0063	0.0828	0.0802	0.0015	0	0.0029	0	0.0896	0.0002	0	0.0002	0.0128	0.0868	0.686	0.04353	T	0.672	0.07766	T	0.994	0.66517	D	0.664	0.52930	P	0.584839	0.05557	U	1.321060	0.999483	0.21117	N	0.975	0.24501	L	3.66	0.04228	T	-0.28	0.11547	N	0.018	0.00407	-0.9828	0.34351	T	0.001	0.00318	T	10	0.0017367601	0.00022	T	.	.	.	0.064	0.18567	.	.	.	.	0.3542840710471905	0.35342	0.850350720984	0.68505	0.56729799509	0.48295	T	0.372533	0.73670	T	-0.710834	0.00032	T	-0.716363	0.04974	T	0.0035515613756084	0.00038	T	0.49985	0.15613	T	0.028242368	0.02132	0.052725133	0.08743	0.028242368	0.02131	0.052725133	0.08742	-4.715	0.33585	T	.	.	0.067	0.03266	B	.;.;.	.;.;.	0.909965	0.12842	9.357	0.98120820459476421	0.38432	0.02731	0.07400	N	AEFDBHCI	0.062385	0.11989	N	-0.851366503132075	0.12016	0.5832008	-0.916413075350327	0.11707	0.5980686	0.999999744067704	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.606884	0.38211	0	0.554799	0.18163	0	.	.	4.33	1.57	0.22490	-0.025000	0.12361	-0.771000	0.07495	-0.254000	0.07082	0.009000	0.18154	0.013000	0.20296	0.002000	0.04165	0.0:0.6723:0.0:0.3277	7.734	0.27969	874	0.30607	.;.;.	.	.	.	.	.	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	0.04762	3534.11	35	chr18	63318540	.	C	T	3534.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.567;DP=919;ExcessHet=0.1072;FS=3.812;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=-1.050e-01;SOR=0.474	GT:AD:DP:GQ:PL	0/1:34,55:89:99:1441,0,740	19	0	2	0
chr18	63917505	63917505	A	-	exonic	SERPINB10	.	frameshift deletion	SERPINB10:NM_005024:exon3:c.218delA:p.R76Gfs*7,	.	.	505	1000	17	0	0	17	0.00842836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0293	.	0.0081	0.0051	0.0100	0.0086	0.0055	0.0092	0.0093	0.0057	0.0002305	6	26028	rs779494900	0.0011	0.0039	0.0011	0.0011	0.0016	0.0011	0.0010	0.0013	0.0012	0.0007	0.0016	0.0005	0.0004	0.0002	0.0010	0.0012	0.0009	0.0009	0.0003	0.0003	0.0004	0.0002	0.0006	0.0003	0.0002	0.0005	0.0004	0.0002	0	6.724e-05	0	0	0	0	0.0006	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	34.55	31	chr18	63917504	.	GA	G	34.55	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-6.170e-01;DP=508;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.0944;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.197;SOR=0.822	GT:AD:DP:GQ:PL	0/1:11,2:13:21:21,0,262	17	0	4	0
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.073	N	0.983	D	-3.46	N	1.84	T	-0.904	T	0.008	T	0.124	-0.621	1.242	3.76	1.045	2.422	13.494	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	4590.35	69	chr18	65824683	.	C	G	4590.35	.	AC=20;AF=0.500;AN=40;BaseQRankSum=0.297;DP=1960;ExcessHet=43.6797;FS=200.513;InbreedingCoeff=-0.9189;MLEAC=20;MLEAF=0.500;MQ=60.00;MQRankSum=0.00;QD=2.74;ReadPosRankSum=1.02;SOR=12.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:53,25:78:99:.:.:283,0,1330	0	0	20	1
chr18	78993756	78993756	G	A	exonic	SALL3	.	nonsynonymous SNV	SALL3:NM_171999:exon2:c.G1765A:p.G589S,	.	.	424	1091	7	0	0	7	0.00319781	.	.	2289656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.86	T	0.031	B	0.005	B	0.534	N	1.000	N	0.42	N	3.13	T	-0.918	T	0.010	T	0.036	0.043	4.236	-5.06	-1.018	0.185	9.551	0.041	0.00406883928449	0.0003	.	0.0004	0.0003	0.0003	0	0	0.0004	0.0028	0.0006	0.0002781	43	154602	rs201685558	0.0003	0.0004	0.0003	0.0004	0.0101	0.0003	0.0003	0.0080	0.0073	0.0002	0.0003	0.0061	0	2.821e-05	0.0101	0.0002	0.0006	0.0003	0.0003	0.0003	0.0004	0.0003	0.0004	0.0003	0.0002	0.0003	0.0002	4.813e-05	0	0	0.0055	0	0	0.0069	0.0004	0.0009	0	0.214	0.19361	T	0.245	0.24054	T	0.031	0.20130	B	0.005	0.11217	B	0.533783	0.11610	N	0.763765	0.999999	0.08975	N	-1.2	0.00838	N	3.41	0.08014	T	-0.87	0.23590	N	0.103	0.08646	-0.9183	0.45783	T	0.010	0.03811	T	10	0.0055042505	0.00121	T	0.004069	0.09712	T	0.041	0.10877	.	.	0.159798565429	0.15598	0.2314740132454767	0.23062	0.396343119788	0.40747	0.301038324833	0.10556	T	0.009611	0.31775	T	-0.626802	0.00100	T	-0.820061	0.01451	T	0.00850617734607194	0.00103	T	0.534247	0.18433	T	0.03047809	0.02717	0.03903203	0.03904	0.03047809	0.02717	0.03903203	0.03904	-3.553	0.17281	T	.	.	0.069	0.03811	B	.;.;.;.	.;.;.;.	-0.939943	0.00860	0.030	0.7060978654425375	0.09352	0.07657	0.13664	N	AEFDBCI	0.099006	0.19938	N	-1.36177989733513	0.03004	0.1335407	-1.41320992036218	0.03119	0.1448856	0.997570755561613	0.35775	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	5.2	-5.06	0.02725	0.355000	0.19902	-5.307000	0.01768	-0.693000	0.04107	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.6146:0.0975:0.2878:0.0	9.551	0.38473	.	.	.;.;.;.	.	.	.	.	.	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	0.04762	3025.11	87	chr18	78993756	.	G	A	3025.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.84;DP=2189;ExcessHet=0.1072;FS=4.891;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=-6.140e-01;SOR=0.886	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1524,0,1248	19	0	2	0
chr18	80045896	80045896	G	T	exonic	RBFA	.	nonsynonymous SNV	RBFA:NM_001171967:exon6:c.G688T:p.G230C	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.959	D	0.556	P	0.092	N	1.000	N	.	.	1.78	T	-1.089	T	0.039	T	0.416	2.575	14.57	3.89	2.361	1.060	8.042	0.118	0.0103879545022	0.0031	0.00139776	0.0022	0.0004	0.0017	0	0.0006	0.0034	0.0011	0.0004	0.0022186	343	154602	rs146546640	0.0025	0.0025	0.0026	0.0025	0.0077	0.0025	0.0024	0.0059	0.0052	0.0007	0.0025	0.0038	2.521e-05	0.0004	0.0077	0.0029	0.0033	0.0002	0.0023	0.0023	0.0025	0.0021	0.0040	0.0021	0.0020	0.0033	0.0031	0.0005	0	0.0040	0.0014	0	0.0008	0.0102	0.0037	0.0014	0.0002	0.003	0.68238	D	0.044	0.49663	D	0.959	0.55135	D	0.556	0.49411	P	0.091953	0.20299	N	0.477385	0.999999	0.08975	N	.	.	.	1.78	0.25678	T	-2.61	0.56144	D	0.315	0.35514	-1.0895	0.05616	T	0.039	0.16978	T	9	0.004610032	0.00096	T	0.010388	0.26871	T	0.118	0.32913	.	.	0.382761230579	0.37889	0.11111175681961595	0.11040	0.803011801004	0.66336	0.267464339733	0.05813	T	0.021326	0.16629	T	-0.435043	0.01383	T	-0.399159	0.33482	T	0.023375148767641	0.01068	T	0.521748	0.17009	T	0.18848088	0.40349	0.1354497	0.32429	0.18848088	0.40349	0.1354497	0.32428	-4.055	0.24624	T	.	.	0.117	0.23709	B	.	.	1.732306	0.22045	15.46	0.98658077252863763	0.44289	0.18637	0.20342	N	AEFDBCI	0.095111	0.19220	N	-0.151032493658111	0.35190	2.018202	-0.280986694605362	0.28725	1.603809	0.848811751896699	0.25005	0.67177	0.52595	0	0.702456	0.74545	0	0.554053	0.18673	1	0.635551	0.53088	0	.	.	4.78	3.89	0.44098	0.894000	0.27983	3.059000	0.36152	0.676000	0.76740	0.050000	0.21411	0.999000	0.35428	0.006000	0.07323	0.1755:0.0:0.8245:0.0	8.042	0.29686	.	.	.	.	.	.	.	.	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	0.02381	2478.98	44	chr18	80045896	.	G	T	2478.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.778e+00;DP=1190;ExcessHet=0.0000;FS=1.207;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=-1.220e+00;SOR=0.794	GT:AD:DP:GQ:PL	0/1:72,96:168:99:2493,0,1861	20	0	1	0
chr19	501743	501743	-	CCCGACACCACCTCCCAGGAGC	exonic	MADCAM1	.	frameshift insertion	MADCAM1:NM_130760:exon4:c.742_743insCCCGACACCACCTCCCAGGAGC:p.P249Rfs*53,	.	.	978	231	47	127	139	440	0.394495	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0007	0.0002	0.0008	0	0.0002	0	0	6.5e-06	1	154602	.	0.0056	0.0059	0.0048	0.0063	0.0110	0.0054	0.0054	0.0102	0.0099	0.0025	0.0092	0.0049	0.0104	0.0032	0.0024	0.0048	0.0059	0.0110	0.0062	0.0070	0.0061	0.0063	0.0266	0.0057	0.0055	0.0217	0.0198	0.0045	0.0050	0.0046	0.0039	0.0266	0.0078	0.0165	0.0058	0.0090	0.0049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7143	46021.53	35	chr19	501743	.	T	TCTCCCGACACCACCTCCCAGGAGCCTCCCGACACCACCTCCCAGGAGC,C,TCCCGACACCACCTCCCAGGAGC	46021.53	.	AC=29,4,1;AF=0.690,0.095,0.024;AN=42;BaseQRankSum=-6.390e-01;DP=1856;ExcessHet=0.5418;FS=0.000;InbreedingCoeff=0.0735;MLEAC=29,4,1;MLEAF=0.690,0.095,0.024;MQ=58.52;MQRankSum=-7.810e-01;QD=29.75;ReadPosRankSum=-1.790e+00;SOR=0.644	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,65,0,0:65:99:.:.:2707,188,0,2713,194,2719,2713,194,2719,2719	1	10	5	0
chr19	1555744	1555744	G	C	exonic	MEX3D	.	nonsynonymous SNV	MEX3D:NM_001174118:exon2:c.C1775G:p.S592W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.973	D	0.677	P	0.392	U	1.000	N	0	N	0.75	T	-1.049	T	0.083	T	0.145	-0.466	1.846	0.696	0.111	0.805	4.864	0.122	0.229218331913	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200047801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.581e-06	6.567e-06	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.006	0.61437	D	0.014	0.63109	D	0.973	0.57599	D	0.677	0.53365	P	0.392049	0.13242	U	0.641285	0.999753	0.20482	N	0	0.06538	N	0.75	0.50192	T	-2.05	0.47008	N	0.22	0.24634	-1.0490	0.14677	T	0.083	0.32642	T	10	0.23183018	0.40165	T	0.229218	0.88174	D	0.122	0.33800	0.42	0.46200	0.292423486923	0.28857	0.3269928552843577	0.32612	.	.	0.804985880852	0.82723	D	0.019299	0.17626	T	-0.224856	0.17336	T	-0.560766	0.16305	T	0.207538772880184	0.20824	T	0.523348	0.17107	T	0.06739785	0.14591	0.059465036	0.11164	0.06739785	0.14591	0.059465036	0.11163	-7.24	0.55768	T	.	.	0.219	0.44923	B	.;.	.;.	2.418848	0.31099	18.64	0.90615342813376942	0.19868	0.18973	0.20477	N	AEFBCI	0.111681	0.22103	N	-0.570331957311996	0.19850	1.042151	-0.700171049901826	0.16956	0.8994216	6.70111711240566E-5	0.04366	0.706298	0.61202	0	0.588066	0.40923	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	2.98	0.696	0.17237	0.407000	0.20770	0.000000	0.13247	-0.290000	0.06302	0.754000	0.29177	0.322000	0.24328	0.012000	0.09680	0.3286:0.0:0.6714:0.0	4.864	0.12962	976	0.04745	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	461.98	35	chr19	1555744	.	G	C	461.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=761;ExcessHet=0.0000;FS=3.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.68;MQRankSum=-7.700e-01;QD=15.93;ReadPosRankSum=-1.108e+00;SOR=0.434	GT:AD:DP:GQ:PL	0/1:12,17:29:99:476,0,257	20	0	1	0
chr19	1622125	1622125	G	A	exonic	TCF3	.	nonsynonymous SNV	TCF3:NM_001136139:exon10:c.C751T:p.P251S	Agammaglobulinemia 8, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.996	D	0.906	P	0.313	N	1.000	N	1.445	L	0.92	T	-0.924	T	0.145	T	0.435	0.577	7.115	-0.744	-0.035	-0.143	10.802	0.106	0.0064243823886	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.918e-07	2.736e-06	1.374e-06	0	1.19e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.19e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.211	0.19927	T	0.126	0.35330	T	0.657	0.43786	P	0.197	0.43123	B	0.313241	0.14397	N	0.673920	1	0.08975	N	1.79	0.46772	L	0.92	0.44461	T	-1.72	0.40850	N	0.257	0.33687	-0.9245	0.44929	T	0.145	0.46914	T	10	0.11969426	0.22656	T	0.006424	0.16899	T	0.106	0.30130	0.158	0.06178	0.416328079214	0.41249	0.2695647496551251	0.26869	0.0590315638115	0.06553	0.492661207914	0.37808	T	0.378093	0.74114	T	-0.160972	0.26612	T	-0.469001	0.25623	T	0.300578236579895	0.25028	T	0.905309	0.66640	D	0.039250337	0.05385	0.04033735	0.04336	0.039250337	0.05385	0.04033735	0.04335	-3.003	0.14272	T	.	.	0.056	0.00693	B	.;.;.;.;.;.	.;.;.;.;.;.	0.297331	0.06730	3.243	0.91223097330368952	0.20480	0.21049	0.21263	N	AEFDBCI	0.119456	0.23315	N	-0.901176730309306	0.10814	0.5186848	-1.0891207009001	0.07913	0.3868823	0.0117418506128431	0.12230	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	2.91	-0.744	0.10542	-0.069000	0.11501	0.698000	0.20823	-0.337000	0.05733	0.000000	0.06391	0.216000	0.23679	0.005000	0.06747	0.0:0.627:0.373:0.0	10.802	0.45697	976	0.04745	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	720.98	40	chr19	1622125	.	G	A	720.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.170e-01;DP=836;ExcessHet=0.0000;FS=3.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.609;SOR=0.926	GT:AD:DP:GQ:PL	0/1:39,26:65:99:735,0,1157	20	0	1	0
chr19	1788976	1788976	A	G	exonic	ATP8B3	.	nonsynonymous SNV	ATP8B3:NM_001178002:exon24:c.T2879C:p.L960P	.	.	406	1115	1	0	0	1	0.000448229	.	.	2366972	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.998	D	0.909	D	0.000	D	1.000	D	3.22	M	-2.58	D	0.880	D	0.832	D	0.865	4.296	22.5	4.89	1.845	9.209	13.687	0.946	0.671069959694	7.7e-05	.	0.0001	0	0.0003	0	0	8.639e-05	0	0.0005	7.76e-05	12	154602	rs199969503	7.065e-05	7.046e-05	6.548e-05	7.587e-05	0.0005	5.929e-05	5.537e-05	0.0001	7.544e-05	0	0.0001	0	0	0	0.0005	7.383e-05	6.636e-05	9.356e-05	3.286e-05	3.283e-05	2.57e-05	4.035e-05	0.0002	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.979	0.59044	D	0.733	0.55393	P	0.000006	0.62929	D	0.000000	1	0.81001	D	3.55	0.93268	H	-2.58	0.89757	D	-5.79	0.88065	D	0.928	0.94786	0.880	0.95410	D	0.832	0.94383	D	10	0.9754473	0.97294	D	0.67107	0.97256	D	0.946	0.98921	.	.	0.937676003806	0.93702	0.8667276466434082	0.86637	0.536669056901	0.50994	0.693215966225	0.66168	T	0.435168	0.78200	T	0.248987	0.78507	D	0.412025	0.92497	D	0.957715272903442	0.65082	D	0.874313	0.62461	D	0.968352	0.98105	0.96162593	0.99058	0.968352	0.98105	0.96162593	0.99059	-13.531	0.91432	D	.	.	0.932	0.85185	P	.;.	.;.	5.307507	0.89104	29.9	0.99902277430695008	0.97350	0.99859	0.99866	D	ALL	0.974845	0.99584	D	0.797267556377505	0.85935	8.72707	0.72447372112397	0.84235	8.236423	0.99999999999773	0.74766	0.72623	0.87236	0	0.858003	0.99906	0	0.594344	0.31042	0	0.296957	0.05502	2	.	.	4.89	4.89	0.63387	9.196000	0.94104	11.200000	0.88996	0.724000	0.85401	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	1.0:0.0:0.0:0.0	13.687	0.61999	982	0.03397	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	1425.98	33	chr19	1788976	.	A	G	1425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.900e-02;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.55;ReadPosRankSum=3.47;SOR=0.785	GT:AD:DP:GQ:PL	0/1:39,59:98:99:1440,0,834	20	0	1	0
chr19	5831660	5831660	C	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.G908A:p.R303Q	Fucosyltransferase 6 deficiency	.	2	1511	9	0	0	9	0.00296932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87	T	0.002	B	0.013	B	0.469	N	1.000	N	-0.39	N	1.83	T	-1.000	T	0.026	T	0.061	-1.919	0.008	-0.68	-0.386	-0.734	8.405	0.012	.	0.0004	0.0117812	0.0062	0.0014	0.0005	0.0004	0	0.0006	0.0011	0.0411	0.0053363	825	154602	rs142915411	0.0026	0.0026	0.0015	0.0037	0.0392	0.0025	0.0025	0.0381	0.0376	0.0012	0.0004	0	0.0001	5.629e-05	0.0012	0.0002	0.0025	0.0392	0.0017	0.0017	0.0011	0.0023	0.0396	0.0015	0.0015	0.0350	0.0332	0.0011	0	0.0004	0	0.0006	0	0	0.0001	0.0019	0.0396	1.0	0.00964	T	0.715	0.05434	T	0.001	0.07471	B	0.007	0.12992	B	0.469400	0.04917	N	1.347070	1	0.08975	N	-0.795	0.01629	N	1.83	0.24841	T	1.3	0.00948	N	0.042	0.06587	-1.0002	0.29860	T	0.026	0.10954	T	10	0.0040806234	0.00080	T	.	.	.	0.012	0.01476	.	.	0.20549828249	0.20151	0.09742670869549662	0.09673	0.428187793213	0.43146	0.231095299125	0.02050	T	0.004503	0.03907	T	-0.726083	0.00025	T	-0.787176	0.02243	T	0.00192946281526445	0.00020	T	0.358964	0.08219	T	0.024834944	0.01355	0.057459738	0.10448	0.024834944	0.01355	0.057459738	0.10447	-3.798	0.20775	T	.	.	0.067	0.02829	B	.;.;.;.;.	.;.;.;.;.	-0.545540	0.01726	0.128	0.92113000809616796	0.21466	0.00262	0.01432	N	AEFBI	0.043866	0.06987	N	-1.76084425124885	0.00648	0.02796577	-1.74759821198303	0.00942	0.04218284	2.84235596300132E-6	0.01202	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.613276	0.41899	0	.	.	3.11	-0.68	0.10775	-0.999000	0.03808	-6.726000	0.01322	-0.988000	0.01860	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.0:0.2199:0.0:0.7801	8.405	0.31769	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	0.02381	2058.98	33	chr19	5831660	.	C	T	2058.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.36;DP=1009;ExcessHet=0.0000;FS=2.829;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.64;MQRankSum=2.12;QD=13.03;ReadPosRankSum=-4.510e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:89,69:158:99:2073,0,2354	20	0	1	0
chr19	5831880	5831880	G	T	exonic	FUT6	.	nonsynonymous SNV	FUT6:NM_001040701:exon2:c.C688A:p.Q230K	Fucosyltransferase 6 deficiency	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.001	U	1.000	N	-0.89	N	1.97	T	-0.993	T	0.014	T	0.117	-1.368	0.026	-3.46	-0.237	-3.750	1.455	0.044	0.00414949827601	0.0002	0.000199681	5.767e-05	9.614e-05	0	0	0	8.993e-05	0	0	6.5e-06	1	154602	rs364637	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	2.988e-05	4.474e-05	0	2.519e-05	0	0	0.0002	0.0001	4.646e-05	0.0002	0.0003	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	7.222e-05	0	0.0003	0	0	0	0	0.0003	0	0.0004	1.0	0.00964	T	1.0	0.02465	T	0.0	0.02946	B	0.0	0.01387	B	0.001117	0.00740	U	20.777600	1	0.08975	N	-0.195	0.04202	N	1.97	0.22067	T	-0.11	0.08653	N	0.09	0.08925	-0.9931	0.31801	T	0.014	0.05369	T	10	0.018610537	0.00406	T	0.004149	0.09963	T	0.044	0.11924	.	.	0.154104182512	0.14974	0.12465332453566207	0.12391	0.468396034955	0.46186	0.255060464144	0.04320	T	0.004427	0.03837	T	-0.482824	0.00712	T	-0.705618	0.05524	T	0.0564654188896758	0.06600	T	0.163384	0.01486	T	0.0842828	0.19500	0.053717174	0.09100	0.0842828	0.19500	0.053717174	0.09100	-2.94	0.09569	T	.	.	0.069	0.03698	B	.;.;.;.;.	.;.;.;.;.	-1.423199	0.00344	0.006	0.76963715891198137	0.11681	0.00541	0.02492	N	AEFBI	0.069158	0.13675	N	-1.98287398099833	0.00230	0.009867805	-1.97699288533305	0.00342	0.01511721	6.48873158677104E-6	0.01202	0.422189	0.06491	0	0.59043	0.45803	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	3.07	-3.46	0.04465	-4.738000	0.00222	-5.157000	0.01826	-1.258000	0.01295	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1217:0.3101:0.2549:0.3134	1.455	0.02239	970	0.06235	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1192.98	33	chr19	5831880	.	G	T	1192.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.35;DP=2060;ExcessHet=0.0000;FS=14.649;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.56;MQRankSum=-8.334e+00;QD=3.48;ReadPosRankSum=-2.821e+00;SOR=1.453	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,52:343:99:0|1:5831875_T_C:1207,0,11765:5831875	20	0	1	0
chr19	5867080	5867080	C	T	exonic	FUT5	.	nonsynonymous SNV	FUT5:NM_002034:exon2:c.G646A:p.D216N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.0	B	0.006	B	0.599	N	1.000	N	0.59	N	1.94	T	-0.948	T	0.023	T	0.031	-0.972	0.304	-3.3	-0.890	-1.389	6.600	0.001	0.00123414128392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.475e-06	1.436e-05	0	1.101e-05	9.279e-05	2.36e-06	1.7e-06	4.58e-05	3.273e-05	0	0	0	0	0	0	0	0	9.279e-05	1.314e-05	1.969e-05	1.286e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.987	0.01979	T	0.733	0.05109	T	.	.	.	.	.	.	0.598887	0.10978	N	0.787374	1	0.08975	N	.	.	.	1.94	0.22678	T	0.6	0.02518	N	0.065	0.03726	-0.9482	0.41279	T	0.023	0.09787	T	10	0.050031364	0.04678	T	0.001234	0.01633	T	0.001	0.00016	0.371	0.38176	0.171388866994	0.16791	0.12992962753510628	0.12917	0.506698625975	0.48868	0.36787173152	0.20526	T	.	.	.	-0.416805	0.01793	T	-0.836488	0.01153	T	0.0508287188640249	0.05645	T	0.0429957	0.00302	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08705	B	.;.	.;.	-0.888587	0.00945	0.036	0.53178945119111554	0.04889	0.03640	0.08888	N	AEFBI	0.044233	0.07091	N	-1.60895166671726	0.01220	0.05306925	-1.6928570057843	0.01169	0.05260727	2.87556436707656E-4	0.06355	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	2.13	-3.3	0.04692	-0.967000	0.03931	-3.260000	0.02927	-2.170000	0.00366	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.4661:0.0:0.5339	6.600	0.21887	946	0.12043	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	56.98	60	chr19	5867080	.	C	T	56.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.37;DP=1718;ExcessHet=0.0000;FS=3.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.26;MQRankSum=-3.245e+00;QD=0.59;ReadPosRankSum=-3.275e+00;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,9:96:71:0|1:5867075_C_G:71,0,3606:5867075	20	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	.	.	.	.	.	.	0.996	N	0	N	.	.	-0.998	T	0.035	T	0.085	0.963	8.927	0.534	0.295	1.986	5.982	0.014	0.00631720991641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0061	0.0002	0.0002	0.0004	0.0002	0.0002	0.0002	0.0002	0.0003	0	8.002e-05	2.812e-05	0	0.0004	0.0003	0.0003	6.372e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	0.27943	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.125	0.11769	-0.9982	0.30423	T	0.035	0.15291	T	6	0.06605524	0.09003	T	0.006317	0.16610	T	.	.	.	.	0.0401082797425	0.02173	0.04024571050867364	0.03970	.	.	0.37946036458	0.22180	T	0.013956	0.11972	T	-0.255113	0.13478	T	-0.604228	0.12458	T	0.0270435322631717	0.01550	T	0.30037	0.05618	T	0.023964053	0.01182	0.025669742	0.00620	0.023964053	0.01182	0.025669742	0.00619	-5.088	0.37780	T	.	.	0.367	0.57658	A	.	.	1.113604	0.14988	11.50	0.53643305433940836	0.04980	0.10200	0.15772	N	ALL	.	.	.	-0.794969245513708	0.13441	0.6621338	-0.886495899590302	0.12413	0.638379	0.999999999661444	0.74766	0.730579	0.87903	0	0.607795	0.50457	0	0.749866	0.98131	0	0.603991	0.37454	0	.	.	4.05	0.534	0.16320	0.450000	0.21475	0.712000	0.20944	0.606000	0.46413	0.025000	0.20085	0.000000	0.08366	0.014000	0.10232	0.353:0.0:0.647:0.0	5.982	0.18645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.25	769.34	89	chr19	7871678	.	G	C	769.34	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-3.686e+00;DP=1708;ExcessHet=6.1002;FS=184.238;InbreedingCoeff=-0.3275;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=0.814;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:75,20:95:83:.:.:83,0,1784	10	0	10	1
chr19	8888076	8888076	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.C40831T:p.P13611S,	.	.	418	1044	60	0	0	60	0.027933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.992	D	0.979	D	.	.	.	.	.	.	4.69	T	-1.012	T	0.008	T	0.059	-1.220	0.063	0.949	-0.089	-0.973	3.025	0.062	0.00233003514531	.	.	3.616e-05	0	0.0003	0	0	3.289e-05	0	0	1.29e-05	2	154602	rs746956602	7.602e-06	9.577e-06	5.489e-06	9.747e-06	4.683e-05	4.08e-06	2.98e-06	7.76e-06	2.9e-06	0	4.683e-05	0	0	0	0	8.147e-06	0	0	1.999e-05	6.604e-05	1.302e-05	2.729e-05	4.444e-05	5.31e-06	2.47e-06	1.18e-05	6.27e-06	0	0	0	0	0	0	0	4.444e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.69	0.01694	T	0.77	0.01949	N	0.055	0.02658	-1.0125	0.26133	T	0.008	0.02720	T	7	0.042926937	0.03089	T	0.00233	0.04507	T	0.062	0.17934	.	.	0.0551355673512	0.04727	0.1259688714579419	0.12522	.	.	0.296296924353	0.09851	T	.	.	.	-0.398369	0.02373	T	-0.810006	0.01665	T	0.015891833190803	0.00374	T	0.249275	0.03729	T	.	.	.	.	.	.	.	.	-1.842	0.02637	T	.	.	0.054	0.00321	B	.	.	0.192461	0.05785	2.226	0.4151298757620755	0.03000	0.00011	0.00159	N	AEFBI	0.010308	0.00072	N	-1.14269125215029	0.05901	0.2702541	-1.32095895774873	0.04160	0.1956212	9.77839227391231E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	0.949	0.18691	-0.098000	0.10993	.	.	-0.176000	0.10722	0.001000	0.13787	0.001000	0.17328	0.004000	0.06068	0.7048:0.0:0.2952:0.0	3.025	0.05719	952	0.10565	.	.	.	.	.	.	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	1	0	0	0	0.1562	122.45	92	chr19	8888076	.	G	A	122.45	.	AC=5;AF=0.156;AN=32;BaseQRankSum=3.74;DP=1860;ExcessHet=1.1607;FS=1.103;InbreedingCoeff=-0.2118;MLEAC=5;MLEAF=0.156;MQ=59.49;MQRankSum=-7.474e+00;QD=0.28;ReadPosRankSum=-6.410e-01;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:86,8:94:71:.:.:71,0,3587	11	0	5	5
chr19	8888087	8888087	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon58:c.T40820C:p.I13607T,	.	.	417	1041	64	0	0	64	0.0298229	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.831	P	0.824	P	.	.	.	.	.	.	4.62	T	-1.022	T	0.007	T	0.058	0.123	4.662	-0.566	-0.690	-0.913	4.301	0.040	.	8.4e-05	.	1.843e-05	0.0002	0	0	0	0	0	0	6.5e-06	1	154602	rs375722672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	1.51	0.00728	N	0.064	0.03613	-1.0221	0.23031	T	0.007	0.02244	T	7	0.046363264	0.03818	T	0.003776	0.08775	T	0.053	0.14996	.	.	0.0806252709748	0.07271	0.08113719990746966	0.08048	.	.	0.292725682259	0.09321	T	.	.	.	-0.410319	0.01978	T	-0.827171	0.01313	T	0.0205199335667818	0.00752	T	0.121488	0.00940	T	.	.	.	.	.	.	.	.	0.215	0.00281	T	.	.	0.092	0.13503	B	.	.	0.530896	0.08997	5.778	0.92029181334311316	0.21368	0.00015	0.00188	N	AEFBI	0.020964	0.00883	N	-0.812734170393172	0.12984	0.636566	-1.13990611673498	0.06950	0.3363392	1.26604863044529E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.949	-0.566	0.11178	-0.613000	0.05705	.	.	-0.251000	0.07141	0.002000	0.15269	0.000000	0.08366	0.069000	0.16583	0.5985:0.0:0.4015:0.0	4.301	0.10367	952	0.10565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	240.03	93	chr19	8888087	.	A	G	240.03	.	AC=3;AF=0.100;AN=30;BaseQRankSum=3.33;DP=1799;ExcessHet=0.3300;FS=3.998;InbreedingCoeff=-0.1687;MLEAC=4;MLEAF=0.133;MQ=59.66;MQRankSum=-4.196e+00;QD=0.85;ReadPosRankSum=-3.330e-01;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,9:92:99:0|1:8888087_A_G:128,0,3378:8888087	12	0	3	6
chr19	8888822	8888826	GCTTT	0	exonic	MUC16	.	.	.	.	.	412	698	370	1	41	413	0.210407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	23587.18	358	chr19	8888822	.	GCTTT	G,*,TCTTT	23587.18	.	AC=17,3,1;AF=0.405,0.071,0.024;AN=42;BaseQRankSum=1.15;DP=9724;ExcessHet=54.0936;FS=9.916;InbreedingCoeff=-1.0000;MLEAC=17,3,1;MLEAF=0.405,0.071,0.024;MQ=57.12;MQRankSum=-1.109e+01;QD=2.75;ReadPosRankSum=0.578;SOR=1.311	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:256,73,55,0:397:99:.:.:3050,0,10723,767,8699,11547,3845,11056,11823,14901	0	0	17	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	1541.22	352	chr19	8888826	.	T	*,TCCGA	1541.22	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=2.89;DP=8436;ExcessHet=43.6797;FS=10.909;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.52;MQRankSum=-9.389e+00;QD=0.19;ReadPosRankSum=0.933;SOR=1.413	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:269,66,55:390:99:.:.:2015,0,11084,515,9039,11645	1	0	19	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	D	0.998	D	0.982	D	.	.	.	.	1.825	L	4.5	T	-1.049	T	0.019	T	0.119	0.149	4.800	1.42	1.067	0.380	6.239	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1667	1286.53	209	chr19	8908637	.	C	G	1286.53	.	AC=6;AF=0.167;AN=36;BaseQRankSum=2.54;DP=3325;ExcessHet=1.7912;FS=9.333;InbreedingCoeff=-0.2165;MLEAC=7;MLEAF=0.194;MQ=58.51;MQRankSum=-1.077e+01;QD=1.08;ReadPosRankSum=0.914;SOR=1.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:203,19:222:99:.:.:187,0,8426	12	0	6	3
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	D	0.553	P	0.146	B	.	.	.	.	1.115	L	4.53	T	-0.965	T	0.005	T	0.122	-0.518	1.634	-2.84	-0.932	-2.451	2.526	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1579	1251.42	202	chr19	8908644	.	C	G	1251.42	.	AC=6;AF=0.158;AN=38;BaseQRankSum=2.54;DP=3367;ExcessHet=1.7912;FS=9.055;InbreedingCoeff=-0.2014;MLEAC=6;MLEAF=0.158;MQ=58.24;MQRankSum=-1.070e+01;QD=1.05;ReadPosRankSum=1.39;SOR=1.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:200,17:217:99:.:.:112,0,8338	13	0	6	2
chr19	9160906	9160906	C	T	exonic	ZNF317	.	nonsynonymous SNV	ZNF317:NM_001190791:exon6:c.C1165T:p.R389W	.	.	.	.	.	.	.	.	.	.	.	3360865	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.988	D	0.567	P	0.030	N	1.000	N	1.295	L	3.14	T	-1.038	T	0.020	T	0.281	2.117	13.04	-3.11	-0.616	-2.355	6.752	0.042	0.00267444377818	.	.	.	.	.	.	.	.	.	.	.	.	.	rs980263384	5.472e-06	5.472e-06	5.445e-06	5.5e-06	0.0002	2.35e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.396e-06	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.78490	D	0.001	0.92824	D	0.974	0.62325	D	0.567	0.49782	P	0.029970	0.25377	N	0.192110	1	0.08975	N	1.995	0.54099	M	3.14	0.07920	T	-3.75	0.74821	D	0.322	0.38541	-1.0384	0.17802	T	0.020	0.08313	T	10	0.19494867	0.35326	T	0.002674	0.05463	T	0.042	0.11227	0.47	0.54376	0.633445606056	0.63044	0.3141320999701086	0.31326	1.15604357529	0.79368	0.46437972784	0.33910	T	0.268478	0.64060	T	-0.243154	0.14949	T	-0.571564	0.15306	T	0.867505490779877	0.51752	D	0.490951	0.15096	T	0.19032948	0.40613	0.21513683	0.46090	0.19032948	0.40613	0.21513683	0.46089	-8.575	0.64924	D	.	.	0.216	0.44834	B	.;.	.;.	2.965764	0.39511	21.0	0.99757848097266577	0.84772	0.12075	0.17044	N	AEFDBCI	0.061278	0.11703	N	-0.633673900616203	0.17940	0.9273975	-0.858644572904326	0.13080	0.6765706	0.0144285726218926	0.12594	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	2.92	-3.11	0.04975	-2.551000	0.01004	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.3104:0.5626:0.0:0.127	6.752	0.22677	976	0.04745	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	3354.98	34	chr19	9160906	.	C	T	3354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.82;DP=943;ExcessHet=0.0000;FS=0.999;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.98;ReadPosRankSum=-4.060e-01;SOR=0.602	GT:AD:DP:GQ:PL	0/1:121,119:240:99:3369,0,3063	20	0	1	0
chr19	10350910	10350910	T	C	exonic	TYK2	.	nonsynonymous SNV	TYK2:NM_001385197:exon24:c.A3377G:p.E1126G	Immunodeficiency 35, Autosomal recessive	.	1	1402	108	11	0	130	0.0443081	.	.	468200	not_specified|Immunodeficiency_35	MedGen:CN169374|MONDO:MONDO:0012682,MedGen:C1969086,OMIM:611521,Orphanet:331226	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.006	B	0.540	N	1.000	N	0.565	N	-1.71	D	-1.009	T	0.090	T	0.297	1.773	11.89	5.68	2.161	2.310	13.877	0.031	.	0.0026	0.00658946	0.0067	0.0008	0.0019	0.0001	0.0017	0.0038	0.0088	0.0311	0.0060025	928	154602	rs55886939	0.0039	0.0039	0.0030	0.0049	0.0306	0.0039	0.0038	0.0296	0.0292	0.0004	0.0016	0.0039	2.519e-05	0.0019	0.0248	0.0022	0.0052	0.0306	0.0032	0.0032	0.0029	0.0036	0.0294	0.0030	0.0029	0.0255	0.0240	0.0005	0	0.0036	0.0043	0.0002	0.0021	0.0272	0.0032	0.0047	0.0294	0.02	0.49613	D	0.213	0.26714	T	0.0	0.02946	B	0.006	0.12133	B	0.540135	0.11545	N	0.744173	0.999403	0.21520	N	0.65	0.16133	N	-1.71	0.83157	D	-1.88	0.43906	N	0.15	0.16028	-1.0092	0.27167	T	0.090	0.34683	T	10	0.0062526166	0.00141	T	.	.	.	0.224	0.52174	.	.	0.832625569796	0.83103	0.2781677214498707	0.27729	0.262748586861	0.28834	0.308513373137	0.11682	T	0.356059	0.72297	T	-0.352291	0.04585	T	-0.255821	0.49241	T	0.020755482438709	0.00775	T	0.19768	0.06085	T	0.27860284	0.50913	0.22806673	0.47836	0.33965775	0.56252	0.24295966	0.49728	-4.006	0.23893	T	.	.	0.081	0.08320	B	.;.;.	.;.;.	2.704222	0.35333	19.87	0.99295829267216951	0.58433	0.92413	0.55654	D	AEFBHI	0.307691	0.41449	N	0.0419748116485306	0.43773	2.663794	0.128050775842209	0.45991	2.852466	0.0473693968275403	0.14727	0.706548	0.73137	0	0.702456	0.74545	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.68	5.68	0.88021	1.646000	0.36865	4.984000	0.46482	0.588000	0.31329	0.974000	0.34632	1.000000	0.68203	0.388000	0.26514	0.0:0.0:0.0:1.0	13.877	0.63158	773	0.48803	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	9296.9	33	chr19	10350910	.	T	C	9296.9	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.500e-02;DP=1162;ExcessHet=0.0082;FS=0.543;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=18.41;ReadPosRankSum=0.327;SOR=0.647	GT:AD:DP:GQ:PL	0/1:84,80:164:99:2141,0,2239	18	1	2	0
chr19	10486665	10486665	T	G	exonic	KEAP1	.	nonsynonymous SNV	KEAP1:NM_012289:exon6:c.A1862C:p.N621T	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.02	B	0.012	B	0.015	N	0.841	N	0	N	-0.47	T	-0.947	T	0.144	T	0.14	2.396	13.97	4.88	1.075	0.650	6.17	0.064	0.00998049131201	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1015079556	4.105e-06	4.104e-06	5.445e-06	2.75e-06	0.0010	1.48e-06	9.7e-07	0.0005	0.0003	0	0	0	0	0	0.0010	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.224	0.25591	T	0.02	0.18235	B	0.012	0.16012	B	0.015478	0.28237	N	0.414798	0.840775	0.28633	N	0	0.06538	N	-0.47	0.70133	T	-0.68	0.19509	N	0.103	0.15046	-0.9466	0.41549	T	0.144	0.46587	T	10	0.11851123	0.22408	T	0.00998	0.25968	T	0.064	0.18567	0.205	0.12076	0.597456354548	0.59425	0.2878392153506933	0.28696	0.995633623574	0.74220	0.623597443104	0.56237	T	0.156576	0.49881	T	-0.128081	0.31806	T	-0.421756	0.30875	T	0.226959211275741	0.21806	T	0.713029	0.32487	T	0.049584664	0.08826	0.059231717	0.11083	0.049584664	0.08825	0.059231717	0.11082	-3.411	0.15204	T	.	.	0.080	0.08512	B	.;.	.;.	2.359504	0.30260	18.38	0.98675925125548281	0.44539	0.31110	0.24254	N	AEFBHCI	0.174936	0.30209	N	-0.34701626894559	0.27382	1.501867	-0.125516829185347	0.34365	1.975918	0.999529288087875	0.40175	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.9	4.88	0.63131	1.123000	0.30922	3.399000	0.38117	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0818:0.1625:0.7556	6.17	0.19627	711	0.56613	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1363.98	33	chr19	10486665	.	T	G	1363.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.210e-01;DP=806;ExcessHet=0.0000;FS=0.793;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.21;ReadPosRankSum=0.572;SOR=0.565	GT:AD:DP:GQ:PL	0/1:40,56:96:99:1378,0,953	20	0	1	0
chr19	11213294	11213294	A	G	exonic	DOCK6	.	nonsynonymous SNV	DOCK6:NM_020812:exon35:c.T4373C:p.L1458P	Adams-Oliver syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.91	P	0.707	P	0.000	D	1.000	D	2.64	M	-0.31	T	-0.227	T	0.413	T	0.924	3.650	18.56	5.35	2.024	2.555	14.303	0.599	0.104392099139	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1026744494	2.054e-06	2.052e-06	1.363e-06	2.753e-06	1.16e-05	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0	0	3.317e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18626	T	0.158	0.31629	T	0.91	0.50240	P	0.707	0.54387	P	0.000001	0.84330	D	0.000000	1	0.81001	D	2.79	0.81396	M	-0.31	0.68030	T	-3.53	0.68532	D	0.846	0.84194	-0.2267	0.76974	T	0.413	0.76081	T	10	0.8389175	0.83045	D	0.104392	0.77895	D	0.599	0.84128	0.645	0.78224	0.875342433612	0.87412	0.8514106896222834	0.85103	0.711249349536	0.61720	0.712542772293	0.68962	T	0.201032	0.55880	T	0.29526	0.82585	D	0.186344	0.82360	D	0.981356143951416	0.73864	D	0.933807	0.75196	D	0.7948435	0.83578	0.7622288	0.85952	0.7948435	0.83580	0.7622288	0.85953	-10.821	0.78667	D	.	.	0.790	0.76833	P	.	.	4.681252	0.74909	26.2	0.99826081126936284	0.90852	0.95012	0.63118	D	AEFBI	0.773005	0.70715	D	0.506116957751963	0.67451	5.083377	0.497736128864179	0.67840	5.138169	0.999221090441726	0.38808	0.706298	0.61202	0	0.709663	0.81188	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	2.013000	0.40561	.	.	0.754000	0.88378	0.997000	0.40164	0.886000	0.27767	0.986000	0.61781	1.0:0.0:0.0:0.0	14.303	0.65916	819	0.41190	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1724.98	34	chr19	11213294	.	A	G	1724.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.217e+00;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.43;ReadPosRankSum=-4.250e-01;SOR=0.675	GT:AD:DP:GQ:PL	0/1:105,78:183:99:1739,0,2779	20	0	1	0
chr19	11447529	11447531	GAG	-	exonic	PRKCSH	.	nonframeshift deletion	PRKCSH:NM_001289102:exon10:c.940_942del:p.E325del	Polycystic liver disease 1, Autosomal dominant	.	0	61	87	26	52	191	0.532567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	61194.9	119	chr19	11447525	.	AGAGGAG	A,AGAG	61194.9	.	AC=5,21;AF=0.119,0.500;AN=42;BaseQRankSum=-4.730e-01;DP=3206;ExcessHet=4.5793;FS=1.171;InbreedingCoeff=-0.2115;MLEAC=5,21;MLEAF=0.119,0.500;MQ=60.00;MQRankSum=0.00;QD=26.39;ReadPosRankSum=0.563;SOR=0.619	GT:AD:DP:GQ:PL	0/1:57,54,4:117:99:2048,0,2274,2055,2150,4321	2	0	2	0
chr19	12430730	12430730	A	0	exonic	ZNF443	.	.	.	.	.	412	412	423	155	120	853	0.470777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	57518.43	140	chr19	12430730	.	A	C,*	57518.43	.	AC=18,3;AF=0.429,0.071;AN=42;BaseQRankSum=-2.194e+00;DP=3284;ExcessHet=2.0051;FS=0.000;InbreedingCoeff=-0.0476;MLEAC=18,3;MLEAF=0.429,0.071;MQ=58.31;MQRankSum=-5.036e+00;QD=22.67;ReadPosRankSum=-5.040e-01;SOR=0.687	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,65,0:156:99:0|1:12430718_C_A:2435,0,3625,2709,3821,6530:12430718	5	4	10	0
chr19	12694862	12694862	C	T	exonic	FBXW9	.	stopgain	FBXW9:NM_032301:exon2:c.G486A:p.W162X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	.	.	.	.	0.743	N	1.000	N	.	.	.	.	.	.	.	.	.	2.731	15.09	1.17	1.047	0.076	5.949	.	.	.	.	1.684e-05	0	0	0	0	3.056e-05	0	0	1.29e-05	2	154602	rs760764416	9.578e-06	9.577e-06	1.089e-05	8.251e-06	0.0003	5.56e-06	4.35e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	5.396e-06	3.312e-05	4.637e-05	1.314e-05	1.313e-05	2.568e-05	0	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	0.743343	0.06441	N	1.130820	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.208	0.23125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286266	0.81846	D	0.270279	0.86589	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.874510	0.93907	33	0.98678860696510096	0.44581	0.06307	0.12302	N	AEFDBI	0.062574	0.12037	N	0.35664967727876	0.59092	4.085848	0.0523957595476831	0.42188	2.547422	0.998092947190459	0.36419	0.634777	0.41761	0	0.694456	0.67091	0	0.643519	0.47002	0	0.669	0.65921	0	.	.	4.91	1.17	0.19998	-0.079000	0.11321	.	.	0.595000	0.32841	0.000000	0.06391	0.005000	0.19230	0.261000	0.23543	0.2187:0.6112:0.0:0.1701	5.949	0.18470	716	0.55970	.;.	.	.	.	.	.	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	0.02381	803.98	41	chr19	12694862	.	C	T	803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=818;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.80;ReadPosRankSum=-4.990e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/1:50,32:82:99:818,0,1426	20	0	1	0
chr19	12825879	12825879	C	T	exonic	RTBDN	.	nonsynonymous SNV	RTBDN:NM_001080997:exon6:c.G517A:p.V173M	.	.	423	1064	35	0	0	35	0.0161812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.984	D	0.326	N	1.000	N	2.14	M	-1.23	T	-0.527	T	0.449	T	0.163	3.205	16.73	1.89	0.404	0.110	5.851	0.333	.	0.0062	0.00379393	0.0059	0.0014	0.0060	0.0001	0.0031	0.0086	0.0098	0.0019	0.0056079	867	154602	rs148952767	0.0055	0.0055	0.0054	0.0055	0.0194	0.0054	0.0053	0.0165	0.0154	0.0011	0.0065	0.0414	0	0.0032	0.0194	0.0051	0.0080	0.0018	0.0052	0.0052	0.0055	0.0050	0.0081	0.0049	0.0048	0.0069	0.0065	0.0014	0.0033	0.0081	0.0372	0.0002	0.0014	0.0204	0.0064	0.0080	0.0021	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.984	0.76113	D	0.326316	0.14188	N	0.581337	1	0.18612	N	2.3	0.65703	M	-1.23	0.78860	T	-2.23	0.50012	N	0.142	0.19728	-0.5274	0.67639	T	0.449	0.78378	T	10	0.008632958	0.00196	T	.	.	.	0.333	0.65522	.	.	0.679993856582	0.67727	0.6243524136616043	0.62368	0.959251436941	0.72940	0.519055008888	0.41493	T	0.110779	0.45160	T	-0.395984	0.02460	T	-0.338552	0.40509	T	0.018487128007871	0.00564	T	0.833717	0.50261	T	0.13471617	0.31290	0.15347806	0.36063	0.13471617	0.31290	0.15347806	0.36062	-5.047	0.37346	T	.	.	0.269	0.55285	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.305741	0.29507	18.15	0.99645482826696152	0.76943	0.05403	0.11271	N	ALL	0.110435	0.21899	N	-0.147440916189132	0.35344	2.028895	-0.396753268390047	0.25093	1.377961	0.999999999977259	0.74766	0.525926	0.21836	0	0.615948	0.52940	0	0.52208	0.10781	0	0.636	0.56748	0	.	.	4.36	1.89	0.24700	0.114000	0.15353	.	.	0.549000	0.26987	0.043000	0.21118	0.008000	0.19753	0.176000	0.21171	0.0:0.7037:0.0:0.2963	5.851	0.17945	495	0.76383	Folate receptor-like;.;.;Folate receptor-like;Folate receptor-like;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	0.02381	1206.98	40	chr19	12825879	.	C	T	1206.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.067;DP=832;ExcessHet=0.0000;FS=9.622;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.19;ReadPosRankSum=-9.240e-01;SOR=0.854	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1221,0,1195	20	0	1	0
chr19	13207871	13207876	CTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6963del:p.Q2324_Q2325del,	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	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,25,0,16,0,0,0:41:99:.:.:1701,667,591,1709,672,1753,1037,0,1089,1085,1709,672,1753,1089,1753,1709,672,1753,1089,1753,1753,1709,672,1753,1089,1753,1753,1753	2	3	6	0
chr19	13207874	13207876	CTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6960del:p.Q2325del,	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	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,25,0,16,0,0,0:41:99:.:.:1701,667,591,1709,672,1753,1037,0,1089,1085,1709,672,1753,1089,1753,1709,672,1753,1089,1753,1753,1709,672,1753,1089,1753,1753,1753	2	3	6	0
chr19	13207876	13207876	-	CTG	exonic	CACNA1A	.	nonframeshift insertion	CACNA1A:NM_001127222:exon47:c.6957_6958insCAG:p.Q2325_A2326insQ,	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	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,25,0,16,0,0,0:41:99:.:.:1701,667,591,1709,672,1753,1037,0,1089,1085,1709,672,1753,1089,1753,1709,672,1753,1089,1753,1753,1709,672,1753,1089,1753,1753,1753	2	3	6	0
chr19	13207868	13207876	CTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6966del:p.Q2323_Q2325del,	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	.	212	414	236	221	439	1117	0.450199	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,25,0,16,0,0,0:41:99:.:.:1701,667,591,1709,672,1753,1037,0,1089,1085,1709,672,1753,1089,1753,1709,672,1753,1089,1753,1753,1709,672,1753,1089,1753,1753,1753	2	3	6	0
chr19	13207862	13207876	CTGCTGCTGCTGCTG	-	exonic	CACNA1A	.	nonframeshift deletion	CACNA1A:NM_001127222:exon47:c.6958_6972del:p.Q2321_Q2325del,	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	19269.49	27	chr19	13207858	.	CCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTG,CCTGCTGCTGCTGCTG,C,CCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTG,CCTG	19269.49	.	AC=17,5,4,1,1,1;AF=0.405,0.119,0.095,0.024,0.024,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=833;ExcessHet=1.3217;FS=4.403;InbreedingCoeff=-0.0027;MLEAC=17,5,4,1,1,1;MLEAF=0.405,0.119,0.095,0.024,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=33.17;ReadPosRankSum=0.136;SOR=0.391	GT:AD:DP:GQ:PGT:PID:PL:PS	1/3:0,25,0,16,0,0,0:41:99:.:.:1701,667,591,1709,672,1753,1037,0,1089,1085,1709,672,1753,1089,1753,1709,672,1753,1089,1753,1753,1709,672,1753,1089,1753,1753,1753	2	3	6	0
chr19	13804938	13804938	G	T	exonic	ZSWIM4	.	nonsynonymous SNV	ZSWIM4:NM_001367834:exon3:c.G502T:p.V168L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.855	P	0.000	D	1.000	D	3.08	M	0.37	T	-0.249	T	0.342	T	0.671	5.524	35	3.74	0.981	7.688	11.933	0.299	0.0463001204723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.988	0.62325	D	0.855	0.60933	P	0.000095	0.51296	D	0.000000	0.97169	0.38890	D	2.66	0.77858	M	0.37	0.57729	T	-2.25	0.50337	N	0.774	0.77132	-0.2488	0.76392	T	0.342	0.70778	T	10	0.7546444	0.75891	D	0.046	0.62391	D	0.299	0.61955	0.321	0.30064	0.627732777632	0.62470	0.7777995666145286	0.77729	0.870047324024	0.69367	0.855787158012	0.90484	D	0.195438	0.55152	T	0.120661	0.66437	D	-0.0644548	0.66019	T	0.950073480606079	0.63255	D	0.995575	0.98446	D	0.25217912	0.48231	0.39918843	0.64488	0.25217912	0.48231	0.39918843	0.64488	-13.506	0.91339	D	.	.	0.927	0.84779	P	.	.	4.713552	0.75742	26.4	0.99670223588111606	0.78523	0.91719	0.54118	D	ALL	0.861806	0.77995	D	0.696124732373011	0.79377	7.065099	0.610946353012804	0.75734	6.36311	0.999999999884143	0.74766	0.77792	0.99625	0	0.643519	0.57511	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	4.81	3.74	0.42108	7.813000	0.84661	9.631000	0.81127	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.0:0.8246:0.1753	11.933	0.52142	958	0.09170	Zinc finger, SWIM-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2514.98	39	chr19	13804938	.	G	T	2514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=922;ExcessHet=0.0000;FS=2.578;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.82;ReadPosRankSum=-6.750e-01;SOR=0.919	GT:AD:DP:GQ:PL	0/1:87,95:182:99:2529,0,2102	20	0	1	0
chr19	13959894	13959894	-	GGTGGGCCCAGGGCAGGCAG	exonic	DCAF15	.	frameshift insertion	DCAF15:NM_138353:exon9:c.1439_1440insGGTGGGCCCAGGGCAGGCAG:p.C482Gfs*59,	.	.	429	927	68	95	3	261	0.122159	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0015	0.0165	0.0004	0	0	3.429e-05	0	0	0.0002305	6	26028	.	0.0004	0.0004	0.0005	0.0003	0.0154	0.0004	0.0004	0.0142	0.0138	0.0154	0.0009	0	0	0	0.0008	1.26e-05	0.0008	9.603e-05	0.0040	0.0039	0.0038	0.0042	0.0139	0.0037	0.0036	0.0129	0.0125	0.0139	0	0.0015	0	0	0	0	1.518e-05	0.0035	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	8404.5	34	chr19	13959894	.	A	AGGTGGGCCCAGGGCGGGCAG,AGGTGGGCCCAGGGCAGGCAG	8404.5	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=0.536;DP=1417;ExcessHet=0.3152;FS=5.121;InbreedingCoeff=0.1923;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=-9.810e-01;SOR=1.052	GT:AD:DP:GQ:PL	0/1:61,11,0:72:99:271,0,2526,462,2559,3021	9	4	7	0
chr19	13965683	13965683	C	T	exonic	RFX1	.	nonsynonymous SNV	RFX1:NM_002918:exon15:c.G2056A:p.V686M,	.	.	.	.	.	.	.	.	.	.	.	2756607	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.403	B	0.047	B	0.294	N	0.901	N	0.145	N	3.16	T	-0.953	T	0.010	T	0.259	1.944	12.46	0.501	0.881	0.264	7.204	0.035	0.0119528270205	.	0.000199681	1.664e-05	0	0	0	0	3.041e-05	0	0	2.59e-05	4	154602	rs201598179	1.847e-05	1.847e-05	2.451e-05	1.238e-05	0.0003	1.265e-05	1.084e-05	6.092e-05	2.521e-05	2.987e-05	0	0	0	0	0.0003	1.529e-05	8.279e-05	2.319e-05	3.283e-05	3.281e-05	2.57e-05	4.03e-05	0.0002	1.26e-05	7.98e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0.0002	0.087	0.32453	T	0.283	0.21478	T	0.403	0.34918	B	0.047	0.24832	B	0.293957	0.14717	N	0.644850	0.90139	0.27693	N	0.895	0.22405	L	3.16	0.07711	T	-0.5	0.15782	N	0.18	0.19459	-0.9525	0.40538	T	0.010	0.03492	T	10	0.13218251	0.25157	T	0.011953	0.30076	T	0.035	0.08770	.	.	0.082315109003	0.07666	0.2374690540756299	0.23661	0.915003175193	0.71199	0.59637337923	0.52392	T	0.157614	0.50029	T	-0.240693	0.15260	T	-0.56803	0.15631	T	0.190015081542556	0.19845	T	0.907009	0.67171	D	0.032572072	0.03308	0.048140135	0.07087	0.032572072	0.03307	0.048140135	0.07087	-7.727	0.59195	D	.	.	0.074	0.05145	B	.	.	3.015166	0.40338	21.1	0.98574285962681119	0.43154	0.72118	0.35312	D	AEFGBI	0.165001	0.29144	N	-0.44031533299563	0.24069	1.297073	-0.335796540637583	0.26951	1.492232	0.0168063464076846	0.12875	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.09	0.501	0.16130	0.230000	0.17632	2.148000	0.30891	0.599000	0.40250	0.991000	0.37257	0.976000	0.30059	0.996000	0.76049	0.2582:0.3187:0.4232:0.0	7.204	0.25073	940	0.13648	.	.	.	.	.	.	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	1	0	0	0	0.02381	993.98	37	chr19	13965683	.	C	T	993.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.443;DP=760;ExcessHet=0.0000;FS=2.056;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.29;ReadPosRankSum=0.844;SOR=0.968	GT:AD:DP:GQ:PL	0/1:26,39:65:99:1008,0,600	20	0	1	0
chr19	14715459	14715459	G	A	exonic	ZNF333	.	nonsynonymous SNV	ZNF333:NM_001300912:exon8:c.G589A:p.A197T	.	.	.	.	.	.	.	.	.	.	.	2427520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.61	T	0.001	B	0.001	B	.	.	1.000	N	-0.205	N	5.62	T	-0.934	T	0.002	T	0.051	0.202	5.087	-1.28	-0.203	-2.094	3.954	0.001	0.00126775141501	0.0002	0.000199681	0.0001	9.95e-05	0	0	0	0.0001	0	0.0004	0.0001164	18	154602	rs140185448	0.0001	0.0001	0.0001	0.0001	0.0005	0.0001	0.0001	0.0004	0.0003	8.964e-05	4.474e-05	0	7.559e-05	0	0	0.0001	0.0001	0.0005	5.909e-05	5.905e-05	3.855e-05	8.055e-05	0.0002	3.075e-05	2.208e-05	3.762e-05	2.575e-05	4.81e-05	0	0	0	0	0	0	8.821e-05	0	0.0002	0.877	0.05002	T	0.761	0.04619	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.46	0.02758	N	5.62	0.00808	T	-1.12	0.28906	N	0.036	0.05414	-0.9341	0.43530	T	0.002	0.00526	T	9	0.030930966	0.01223	T	0.001268	0.01733	T	0.001	0.00016	.	.	0.0611884634855	0.05136	0.03608896506902745	0.03555	0.113894653225	0.12851	0.261178344488	0.05032	T	0.002995	0.02391	T	-0.685735	0.00044	T	-0.873356	0.00711	T	0.00437662833735498	0.00047	T	0.0164983	0.00091	T	0.024560615	0.01299	0.044042632	0.05617	0.024560615	0.01299	0.044042632	0.05616	-4.728	0.39705	T	.	.	0.088	0.20469	B	.;.	.;.	-0.911046	0.00907	0.034	0.42784697006350147	0.03177	0.00178	0.01045	N	AEFBI	0.010635	0.00079	N	-1.4435899518402	0.02268	0.09995377	-1.43888716637866	0.02872	0.132928	1.14750157863797E-5	0.02871	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.38	-1.28	0.08834	-1.302000	0.02854	.	.	-1.607000	0.00885	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3724:0.2186:0.409:0.0	3.954	0.08876	964	0.07719	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	793.98	39	chr19	14715459	.	G	A	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.564e+00;DP=769;ExcessHet=0.0000;FS=3.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.88;ReadPosRankSum=0.215;SOR=0.328	GT:AD:DP:GQ:PL	0/1:38,35:73:99:808,0,1110	20	0	1	0
chr19	15238869	15238869	-	TGC	exonic	BRD4	.	nonframeshift insertion	BRD4:NM_001379291:exon19:c.3893_3894insGCA:p.Q1300_A1301insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.258e-05	0	0	0	0	0	0	0.0004	3.84e-05	1	26028	rs780701875	2.072e-05	2.052e-05	1.372e-05	2.78e-05	0.0002	1.47e-05	1.276e-05	0.0001	0.0001	0	0	0	0	0	0	9.944e-06	1.676e-05	0.0002	2.628e-05	2.627e-05	1.284e-05	4.035e-05	0.0002	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	963.94	37	chr19	15238869	.	T	TTGC	963.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.424;DP=767;ExcessHet=0.0000;FS=1.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.67;ReadPosRankSum=0.301;SOR=0.906	GT:AD:DP:GQ:PL	0/1:23,26:49:99:978,0,868	20	0	1	0
chr19	17211769	17211769	C	T	exonic	MYO9B	.	nonsynonymous SNV	MYO9B:NM_001130065:exon39:c.C6053T:p.S2018L	.	.	367	1108	46	1	0	48	0.0212014	.	.	704845	MYO9B-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.13	T	0.271	B	0.034	B	0.412	N	1.000	N	0.69	N	-1.96	D	-0.771	T	0.282	T	0.041	1.778	11.90	0.090	-0.107	2.935	5.497	0.190	.	0.0050	0.00319489	0.0060	0.0005	0.0026	0	0.0085	0.0070	0.0070	0.0097	0.0055627	860	154602	rs199695802	0.0056	0.0056	0.0054	0.0059	0.0210	0.0055	0.0055	0.0180	0.0168	0.0008	0.0030	0.0151	2.519e-05	0.0091	0.0210	0.0051	0.0073	0.0104	0.0044	0.0044	0.0042	0.0047	0.0104	0.0042	0.0041	0.0081	0.0073	0.0011	0	0.0043	0.0141	0	0.0082	0.0102	0.0053	0.0057	0.0104	0.076	0.34269	T	0.025	0.56192	D	.	.	.	.	.	.	0.412285	0.04598	N	1.514930	1	0.08975	N	1.78	0.46185	L	-1.96	0.85091	D	-2.12	0.48184	N	0.183	0.22998	-0.7710	0.56803	T	0.282	0.65399	T	10	0.0070744455	0.00161	T	.	.	.	0.190	0.46781	.	.	0.479185464739	0.47547	0.39954179086188857	0.39869	0.291571434391	0.31565	0.432612478733	0.29566	T	0.022428	0.18153	T	-0.478053	0.00759	T	-0.451505	0.27530	T	0.0266004429926373	0.01488	T	0.727427	0.39899	T	.	.	.	.	.	.	.	.	-3.639	0.18422	T	.	.	0.062	0.08224	B	.;.;.;.;.;.	.;.;.;.;.;.	1.720961	0.21908	15.40	0.98264130253596449	0.39694	0.46924	0.27868	N	AEFBI	0.280645	0.39441	N	-0.973295880863492	0.09177	0.433247	-0.968848972364462	0.10489	0.5286096	0.0025240548006917	0.09503	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.93	0.090	0.13772	2.996000	0.49137	-0.581000	0.08376	-0.781000	0.03322	0.027000	0.20232	0.000000	0.08366	0.856000	0.40543	0.0:0.6136:0.1429:0.2435	5.497	0.16099	917	0.20147	.;.;.;.;.;.	.	.	.	.	.	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	2336.68	33	chr19	17211769	.	C	T	2336.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.790;DP=870;ExcessHet=0.3300;FS=1.673;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=-1.148e+00;SOR=0.826	GT:AD:DP:GQ:PL	0/1:45,31:76:99:818,0,966	18	0	3	0
chr19	17286678	17286692	GTGTGTGTGTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	559	741	214	4	4	226	0.130282	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4004.43	34	chr19	17286678	.	GTGTGTGTGTGTGTT	*,G	4004.43	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=0.870;DP=1077;ExcessHet=0.9430;FS=6.169;InbreedingCoeff=-0.0269;MLEAC=1,8;MLEAF=0.025,0.200;MQ=59.96;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.98;SOR=0.455	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,0,8:24:99:.:.:274,332,1146,0,668,817	12	0	0	1
chr19	17286684	17286684	G	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	4780.38	36	chr19	17286684	.	G	T,*	4780.38	.	AC=7,9;AF=0.175,0.225;AN=40;BaseQRankSum=-8.400e-01;DP=1119;ExcessHet=4.5793;FS=8.883;InbreedingCoeff=-0.2478;MLEAC=7,9;MLEAF=0.175,0.225;MQ=59.96;MQRankSum=0.00;QD=8.55;ReadPosRankSum=0.894;SOR=0.329	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:16,0,8:24:99:.:.:274,348,1163,0,769,817	6	0	6	1
chr19	17286686	17286692	GTGTGTT	0	exonic	ANKLE1	.	.	.	.	.	513	567	132	0	310	442	0.104265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	1476.26	36	chr19	17286686	.	GTGTGTT	*,G,TTGTGTT	1476.26	.	AC=9,2,4;AF=0.214,0.048,0.095;AN=42;BaseQRankSum=0.195;DP=1111;ExcessHet=3.1640;FS=2.719;InbreedingCoeff=-0.1486;MLEAC=9,2,4;MLEAF=0.214,0.048,0.095;MQ=60.00;MQRankSum=0.00;QD=2.88;ReadPosRankSum=0.928;SOR=0.500	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:12,8,0,0:20:99:.:.:290,0,633,356,507,1116,366,603,1002,1056	8	1	7	0
chr19	17286688	17286692	GTGTT	0	exonic	ANKLE1	.	.	.	.	.	525	471	333	8	185	534	0.270333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	4769.66	36	chr19	17286688	.	GTGTT	*,G,TTGTT	4769.66	.	AC=11,10,1;AF=0.262,0.238,0.024;AN=42;BaseQRankSum=0.035;DP=1122;ExcessHet=8.0185;FS=14.083;InbreedingCoeff=-0.3339;MLEAC=11,10,1;MLEAF=0.262,0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=7.34;ReadPosRankSum=0.733;SOR=0.210	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:10,8,0,0:18:99:.:.:367,0,440,350,297,752,390,406,719,814	3	1	6	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	2703.98	18	chr19	17286690	.	GTT	*,G	2703.98	.	AC=19,8;AF=0.452,0.190;AN=42;BaseQRankSum=-1.400e-01;DP=1116;ExcessHet=3.1640;FS=12.346;InbreedingCoeff=-0.0816;MLEAC=19,7;MLEAF=0.452,0.167;MQ=59.97;MQRankSum=0.00;QD=4.53;ReadPosRankSum=0.510;SOR=0.209	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:1,10,8:19:99:.:.:772,168,163,378,0,618	2	3	9	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7619	2556.62	16	chr19	17286692	.	T	*,G	2556.62	.	AC=29,9;AF=0.690,0.214;AN=42;BaseQRankSum=-3.190e-01;DP=1109;ExcessHet=0.6776;FS=2.075;InbreedingCoeff=-0.1052;MLEAC=29,9;MLEAF=0.690,0.214;MQ=59.98;MQRankSum=0.00;QD=3.57;ReadPosRankSum=1.19;SOR=0.451	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,23,0:24:69:.:.:1398,69,0,981,85,972	0	10	3	0
chr19	18257739	18257739	T	C	exonic	IQCN	.	nonsynonymous SNV	IQCN:NM_001145304:exon4:c.A3545G:p.H1182R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.62	T	0.736	P	0.177	B	.	.	1.000	N	1.845	L	4.04	T	-0.956	T	0.011	T	0.241	0.886	8.598	2.04	0.051	-0.381	8.317	0.045	0.000624627015836	.	0.000199681	2.639e-05	0	0	0.0004	0	0	0	0	2.59e-05	4	154602	rs564811766	8.912e-06	8.893e-06	8.182e-06	9.65e-06	0.0003	4.97e-06	3.83e-06	0.0002	0.0001	0	0	0	0.0003	0	0	9.002e-07	0	0	2.627e-05	2.625e-05	1.285e-05	4.028e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.346	0.12469	T	0.29	0.21011	T	0.736	0.42845	P	0.125	0.32635	B	.	.	.	.	1	0.08975	N	.	.	.	4.03	0.03382	T	-0.65	0.18877	N	0.148	0.36359	-0.9557	0.39970	T	0.011	0.03996	T	9	0.047321826	0.04035	T	6.25E-4	0.00303	T	0.045	0.12272	0.353	0.35246	0.128392430309	0.12331	0.07961227817720969	0.07896	0.218737072753	0.24414	0.329412460327	0.14845	T	0.011073	0.09929	T	-0.478753	0.00752	T	-0.656172	0.08527	T	0.0851912498474121	0.10637	T	0.392661	0.09777	T	0.03537944	0.04153	0.049243607	0.07486	0.03537944	0.04153	0.049243607	0.07485	-1.191	0.01238	T	.	.	0.081	0.13737	B	.;.;.;.	.;.;.;.	-0.405807	0.02192	0.217	0.66338721340669626	0.08030	0.07517	0.13531	N	AEFDBHCI	0.049349	0.08517	N	-0.759440954406714	0.14377	0.7157375	-0.885078363346077	0.12447	0.6403047	1.98261750998865E-5	0.02871	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	4.26	2.04	0.25787	-0.393000	0.07366	0.309000	0.17063	-0.364000	0.05486	0.011000	0.18532	0.001000	0.17328	0.001000	0.02609	0.0:0.0:0.395:0.605	8.317	0.31269	871	0.31377	IQ motif, EF-hand binding site;IQ motif, EF-hand binding site;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1448.98	33	chr19	18257739	.	T	C	1448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.624e+00;DP=922;ExcessHet=0.0000;FS=1.502;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-8.300e-01;SOR=0.510	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1463,0,1729	20	0	1	0
chr19	20624371	20624371	G	0	exonic	ZNF626	.	.	.	.	.	798	89	186	378	71	1013	0.841071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18756.49	70	chr19	20624371	.	G	GA,*	18756.49	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=0.690;DP=1784;ExcessHet=0.5115;FS=0.701;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.42;MQRankSum=-3.529e+00;QD=16.03;ReadPosRankSum=1.59;SOR=0.593	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,82:84:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1895,1836,2268,167,245,0:20624327	0	4	3	7
chr19	20624379	20624379	C	0	exonic	ZNF626	.	.	.	.	.	805	84	185	376	72	1009	0.847964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8929	18081.55	70	chr19	20624379	.	C	T,*	18081.55	.	AC=11,14;AF=0.393,0.500;AN=28;BaseQRankSum=-4.660e-01;DP=1782;ExcessHet=0.5115;FS=0.686;InbreedingCoeff=0.3000;MLEAC=15,19;MLEAF=0.536,0.679;MQ=58.41;MQRankSum=-3.245e+00;QD=15.23;ReadPosRankSum=-4.350e-01;SOR=0.597	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,82:84:99:1|1:20624327_GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCTCTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTTCACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGGTTAGAGGAGCACTTAAAA_G:1895,1836,2268,167,245,0:20624327	0	4	3	7
chr19	20805922	20805922	C	T	exonic	ZNF66	.	nonsynonymous SNV	ZNF66:NM_001355197:exon4:c.C322T:p.H108Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000876972273125	.	.	1.862e-05	0	8.87e-05	0	0	0	0	0.0001	1.29e-05	2	154602	rs778251510	4.779e-05	3.748e-05	5.348e-05	4.285e-05	0.0024	3.278e-05	2.77e-05	0.0013	0.0010	0	3.852e-05	0	0	0	0.0024	2.607e-05	0.0001	8.527e-05	1.972e-05	1.97e-05	2.572e-05	1.345e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	0	0	0	0	0.0034	0	0.0005	0.0002	.	.	.	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.55	0.04746	T	.	.	.	0.104	0.08786	.	.	.	.	.	.	.	0.062149644	0.07903	T	8.77E-4	0.00800	T	.	.	.	.	0.0611884634855	0.05136	0.003773538863635719	0.00353	.	.	.	.	.	0.058776	0.30933	T	-0.534399	0.00362	T	-0.8195	0.01463	T	.	.	.	0.218178	0.02774	T	0.02568107	0.01533	0.051763605	0.08396	0.02568107	0.01533	0.051763605	0.08396	-7.416	0.57017	T	.	.	0.068	0.02861	B	.	.	-0.434738	0.02086	0.194	0.37619129559734937	0.02490	0.00806	0.03275	N	AEFBCI	0.016429	0.00369	N	.	.	.	.	.	.	0.00282644406745973	0.09733	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.620846	0.47308	0	.	.	1.06	-2.12	0.06766	-3.027000	0.00703	.	.	-1.734000	0.00710	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2717:0.0:0.7283	4.974	0.13479	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2170.98	129	chr19	20805922	.	C	T	2170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.539e+00;DP=1883;ExcessHet=0.0000;FS=11.161;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.390e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/1:91,92:183:99:2185,0,2405	20	0	1	0
chr19	21971708	21971708	C	A	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3326T:p.G1109V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.976	D	.	.	0.996	D	.	.	1.9	T	-0.948	T	0.117	T	0.156	2.275	13.56	-1.92	-0.328	1.164	5.139	0.074	0.00310008928599	.	.	8.39e-05	0	8.743e-05	0	0	0.0001	0	0	3.84e-05	1	26028	rs540259312	1.098e-05	0.0011	8.195e-06	1.38e-05	2.24e-05	6.5e-06	5.26e-06	7.34e-06	5.74e-06	0	2.24e-05	0	0	0	0	1.264e-05	1.659e-05	0	6.597e-06	0.0003	1.291e-05	0	1.476e-05	0	0	.	.	0	0	0	0	0	0	0	1.476e-05	0	0	0.049	0.39820	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	0.996444	0.43208	D	2.73	0.79844	M	1.9	0.23486	T	-5.71	0.87457	D	0.212	0.23632	-0.9475	0.41397	T	0.117	0.41165	T	8	0.19219097	0.34937	T	0.003	0.06726	T	0.074	0.21613	.	.	0.124217242631	0.12060	0.007946423955672913	0.00759	0.0269784543744	0.02755	0.414667844772	0.27102	T	0.08162	0.36641	T	-0.227463	0.16986	T	-0.564512	0.15957	T	0.987075865268707	0.77644	D	0.558744	0.19484	T	0.1069769	0.25296	0.1439092	0.34185	0.1069769	0.25296	0.1439092	0.34184	-9.451	0.70554	D	.	.	0.513	0.65181	A	.;.	.;.	1.092122	0.14757	11.30	0.97102117148538769	0.32370	0.21921	0.21570	N	AEFBHCI	0.069946	0.13866	N	-0.427654316107312	0.24503	1.323548	-0.725449524877662	0.16328	0.8632396	5.43145566571937E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.59	-1.92	0.07203	0.909000	0.28180	.	.	-1.957000	0.00479	0.025000	0.20085	0.000000	0.08366	0.000000	0.00833	0.0:0.61:0.1654:0.2246	5.139	0.14281	988	0.01987	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	245.98	39	chr19	21971708	.	C	A	245.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.835e+00;DP=1761;ExcessHet=0.0000;FS=0.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.06;MQRankSum=-4.752e+00;QD=0.92;ReadPosRankSum=-4.794e+00;SOR=0.817	GT:AD:DP:GQ:PL	0/1:238,28:266:99:260,0,9590	20	0	1	0
chr19	32644432	32644432	C	A	exonic	ANKRD27	.	nonsynonymous SNV	ANKRD27:NM_032139:exon5:c.G418T:p.D140Y,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.001	D	1.000	D	2.095	M	1.53	T	-0.772	T	0.200	T	0.869	4.429	23.5	5.61	2.651	6.723	19.694	0.482	0.0439310047385	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1239207753	2.052e-06	2.052e-06	2.723e-06	1.375e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.982	0.75477	D	0.000682	0.42383	D	0.104603	0.999979	0.53665	D	2.36	0.67893	M	1.53	0.30401	T	-5.24	0.83967	D	0.846	0.87699	-0.7723	0.56731	T	0.200	0.55640	T	10	0.6688464	0.70590	D	0.043931	0.61237	D	0.482	0.77206	0.375	0.38830	0.55342899667	0.55001	0.7369671687246147	0.73641	0.488518040385	0.47651	0.676247656345	0.63731	T	0.300204	0.67271	T	0.211019	0.74924	D	0.0653377	0.74598	D	0.99201363325119	0.82399	D	0.953705	0.82322	D	0.69099164	0.77565	0.66618043	0.80425	0.69099164	0.77566	0.66618043	0.80426	-13.131	0.89895	D	.	.	0.480	0.72254	A	.;.;.	.;.;.	5.312492	0.89180	29.9	0.99501679787668351	0.68089	0.98437	0.82768	D	AEFBI	0.711421	0.66487	D	0.759233195113225	0.83506	8.035	0.740506670175947	0.85446	8.583097	0.999999858676109	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	6.645000	0.74198	7.676000	0.65050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:1.0:0.0:0.0	19.694	0.96012	905	0.23532	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	567.98	33	chr19	32644432	.	C	A	567.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.740e-01;DP=757;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.11;ReadPosRankSum=-4.800e-01;SOR=0.465	GT:AD:DP:GQ:PL	0/1:44,26:70:99:582,0,1135	20	0	1	0
chr19	32976669	32976669	C	T	exonic	FAAP24	.	nonsynonymous SNV	FAAP24:NM_001300978:exon3:c.C350T:p.T117M	.	.	428	1082	10	2	0	14	0.00642792	.	.	1289153	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.954	D	0.000	D	0.937	D	1.99	M	.	.	-0.218	T	0.302	T	0.484	2.403	14.00	4.17	1.315	2.698	15.048	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	0	0	0	0	0	0	0	0	0	0	0	0.02381	370.98	39	chr19	32976669	.	C	T	370.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.801;DP=1063;ExcessHet=0.0000;FS=1.015;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.27;ReadPosRankSum=2.03;SOR=0.495	GT:AD:DP:GQ:PL	0/1:34,17:51:99:385,0,903	20	0	1	0
chr19	33175450	33175450	A	G	exonic	WDR88	.	nonsynonymous SNV	WDR88:NM_173479:exon11:c.A1297G:p.M433V,	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	0	N	0.58	T	-0.970	T	0.051	T	0.007	-2.936	0.001	-7.44	-1.922	-1.587	0.988	0.030	0.00499212099781	.	0.000399361	0.0004	9.61e-05	0	0	0	1.498e-05	0	0.0026	0.000304	47	154602	rs570267559	0.0001	0.0001	5.445e-05	0.0002	0.0022	0.0001	0.0001	0.0020	0.0019	0	0	0	0	0	0	1.799e-06	9.935e-05	0.0022	9.193e-05	9.186e-05	2.57e-05	0.0002	0.0029	5.524e-05	4.362e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000258	0.00537	N	5.701970	1	0.08975	N	-0.895	0.01383	N	0.58	0.54149	T	0.26	0.04380	N	0.053	0.02462	-0.9699	0.37220	T	0.051	0.21533	T	10	0.003631413	0.00066	T	0.004992	0.12598	T	0.030	0.07022	0.31	0.28289	0.0297737177859	0.01360	0.08069294633568334	0.08004	0.262815720836	0.28845	0.2794739604	0.07419	T	4.53E-4	0.00158	T	-0.684347	0.00045	T	-0.761342	0.03064	T	0.0246239187072634	0.01224	T	0.262274	0.04237	T	0.028625006	0.02230	0.035288226	0.02752	0.028625006	0.02229	0.035288226	0.02752	-3.628	0.18263	T	.	.	0.065	0.01884	B	.	.	-1.117354	0.00620	0.016	0.35583050103085295	0.02241	0.02894	0.07684	N	AEFBCI	0.035329	0.04528	N	-2.01386941791635	0.00198	0.008463155	-2.05393521844094	0.00234	0.01033676	0.999999938337841	0.74766	0.660377	0.49826	0	0.694456	0.67091	0	0.658983	0.55881	0	0.638833	0.57524	0	.	.	4.92	-7.44	0.01234	-1.584000	0.02217	-1.472000	0.05362	-0.058000	0.16670	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.2819:0.2197:0.3053:0.1931	0.988	0.01359	702	0.57624	.	.	.	.	.	.	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	1	0	0	0	0.02381	2119.98	36	chr19	33175450	.	A	G	2119.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.187e+00;DP=875;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=0.576;SOR=0.697	GT:AD:DP:GQ:PL	0/1:90,86:176:99:2134,0,2352	20	0	1	0
chr19	34944059	34944059	A	G	exonic	ZNF30	.	nonsynonymous SNV	ZNF30:NM_001099437:exon5:c.A1096G:p.I366V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.453	P	0.212	B	.	.	1.000	N	0.905	L	2.39	T	-1.018	T	0.028	T	0.104	1.282	10.19	2.07	0.958	-0.031	3.822	0.015	0.00140903308642	.	.	8.262e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763987647	4.104e-06	4.104e-06	1.361e-06	6.875e-06	0.0007	1.48e-06	9.7e-07	0.0002	0.0001	0	0	0	0	0	0.0007	0	0	2.319e-05	6.575e-06	6.568e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.1	0.30515	T	0.066	0.44501	T	0.453	0.36131	P	0.212	0.37394	B	.	.	.	.	0.999736	0.21065	N	1.29	0.32370	L	2.39	0.15724	T	-0.48	0.15379	N	0.071	0.04426	-1.0179	0.24398	T	0.028	0.12058	T	9	0.08120075	0.13267	T	0.001409	0.02088	T	0.015	0.02232	0.437	0.48993	0.326345978581	0.32251	0.007285345446261801	0.00694	0.0366474967107	0.03882	0.489442437887	0.37360	T	0.016334	0.13521	T	-0.38329	0.02970	T	-0.691492	0.06303	T	0.057941896160595	0.06841	T	0.369163	0.08660	T	0.05360015	0.10168	0.046629887	0.06541	0.05360015	0.10167	0.046629887	0.06541	-4.967	0.36479	T	.	.	0.247	0.50527	B	.;.;.	.;.;.	0.254201	0.06330	2.793	0.89114671426111347	0.18523	0.11018	0.16351	N	AEFDGBHCI	0.096785	0.19532	N	-0.817057712034015	0.12874	0.6304317	-0.918604993923066	0.11656	0.5951203	0.204816848841402	0.18168	0.615465	0.37627	0	0.633656	0.55848	0	0.575934	0.27490	0	0.636168	0.56350	0	.	.	2.07	2.07	0.26004	0.385000	0.20413	-7.611000	0.01121	0.592000	0.32167	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.8068:0.0:0.1932:0.0	3.822	0.08355	302	0.87871	.;.;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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1873.98	101	chr19	34944059	.	A	G	1873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.152e+00;DP=1520;ExcessHet=0.0000;FS=4.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=0.387;SOR=0.450	GT:AD:DP:GQ:PL	0/1:105,76:181:99:1888,0,2937	20	0	1	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K,	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	.	0	1023	424	67	8	566	0.214286	.	.	142703	not_specified|Brugada_syndrome_5|not_provided	MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.001	B	0.005	B	.	.	1.000	N	.	.	-2.5	D	-0.696	T	0.422	T	0.055	1.698	11.64	1.84	0.750	0.862	5.129	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	895	0.25842	.;.	.	.	.	.	.	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	0.1429	11159.49	111	chr19	35034040	.	G	C,A	11159.49	.	AC=4,2;AF=0.095,0.048;AN=42;BaseQRankSum=-5.360e-01;DP=1237;ExcessHet=1.7912;FS=0.520;InbreedingCoeff=-0.1667;MLEAC=4,2;MLEAF=0.095,0.048;MQ=60.00;MQRankSum=0.00;QD=16.46;ReadPosRankSum=-2.200e-02;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,47,0:123:99:0|1:35034035_C_A:1704,0,3009,1933,3151,5084:35034035	15	0	4	0
chr19	35502862	35502862	G	A	exonic	DMKN	.	stopgain	DMKN:NM_001308383:exon5:c.C247T:p.R83X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.001	N	1.000	D	.	.	.	.	.	.	.	.	.	6.811	38	4.76	2.779	1.388	11.431	0.299	.	.	0.000399361	7.495e-05	9.909e-05	8.666e-05	0.0002	0	6.044e-05	0	6.095e-05	7.76e-05	12	154602	rs199854660	1.847e-05	1.847e-05	2.178e-05	1.513e-05	5.974e-05	1.265e-05	1.084e-05	2.194e-05	1.43e-05	5.974e-05	0	0	2.519e-05	0	0	1.709e-05	0	5.797e-05	1.971e-05	1.969e-05	1.286e-05	2.688e-05	0.0002	5.24e-06	2.45e-06	.	.	0	0	6.545e-05	0	0.0002	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.001272	0.39594	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.416	0.46368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213709	0.75178	D	0.294904	0.87958	D	0.568016794078599	0.35159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.;.;.;.;.;.;.;.;.;.	.;High;.;.;.;.;.;.;.;.;.;.	9.734012	0.99263	43	0.99649236990925139	0.77192	0.20758	0.21158	N	AEFDBCI	0.170772	0.29770	N	0.450130570971087	0.64211	4.670532	0.236160704530872	0.51866	3.365542	0.99232533345616	0.32799	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	5.85	4.76	0.60189	1.434000	0.34567	2.835000	0.35045	-0.171000	0.11205	0.241000	0.24758	0.999000	0.35428	0.351000	0.25682	0.0:0.0:0.8203:0.1797	11.431	0.49284	829	0.39537	.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	637.98	34	chr19	35502862	.	G	A	637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=780;ExcessHet=0.0000;FS=1.003;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.63;ReadPosRankSum=0.255;SOR=0.632	GT:AD:DP:GQ:PL	0/1:35,25:60:99:652,0,825	20	0	1	0
chr19	36720655	36720655	T	C	exonic	ZNF567	.	nonsynonymous SNV	ZNF567:NM_001322911:exon5:c.T1838C:p.I613T	.	.	432	1002	84	4	0	92	0.0438931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.037	B	0.014	B	0.002	N	1.000	D	-0.06	N	3.2	T	-1.004	T	0.013	T	0.183	0.998	9.075	4.88	2.185	1.152	11.057	0.116	.	0.0050	0.014377	0.0132	0.0005	0.0045	0.0002	0.0015	0.0067	0.0208	0.0880	0.012917	1997	154602	rs140175549	0.0096	0.0100	0.0077	0.0115	0.0796	0.0095	0.0094	0.0779	0.0772	0.0008	0.0052	0.0101	0.0002	0.0015	0.0211	0.0059	0.0114	0.0796	0.0070	0.0070	0.0062	0.0077	0.0728	0.0066	0.0065	0.0665	0.0641	0.0009	0.0022	0.0060	0.0086	0.0002	0.0009	0.0272	0.0075	0.0100	0.0728	0.025	0.47745	D	0.035	0.52389	D	0.037	0.20876	B	0.014	0.16862	B	0.001837	0.00831	N	3.122940	1	0.81001	D	-0.26	0.03792	N	3.2	0.08283	T	0.06	0.06253	N	0.052	0.02366	-1.0035	0.28903	T	0.013	0.05177	T	10	0.0017394125	0.00022	T	.	.	.	0.116	0.32463	.	.	.	.	0.02467897446445342	0.02418	0.341437195331	0.36074	0.370252728462	0.20868	T	0.012319	0.10847	T	-0.63367	0.00091	T	-0.622987	0.10953	T	0.00912857202348307	0.00115	T	0.367963	0.08605	T	0.09304879	0.21845	0.085792944	0.19833	0.09304879	0.21844	0.085792944	0.19832	-2.883	0.09406	T	.	.	0.052	0.00742	B	.;.;.	.;.;.	0.981068	0.13585	10.11	0.97326509846944032	0.33403	0.00094	0.00618	N	AEFGBHCI	0.087069	0.17654	N	-0.628539992432899	0.18090	0.9364359	-0.538686525464082	0.21106	1.140228	0.999444655585273	0.39736	0.615465	0.37627	0	0.633656	0.55848	0	0.670488	0.60580	0	0.528226	0.09195	0	.	.	4.88	4.88	0.63131	0.655000	0.24618	.	.	0.497000	0.22564	0.002000	0.15269	0.000000	0.08366	0.780000	0.36908	0.0:0.0:0.0:1.0	11.057	0.47145	604	0.67577	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	0.04762	2149.11	43	chr19	36720655	.	T	C	2149.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.600e-02;DP=898;ExcessHet=0.1072;FS=4.980;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=0.485;SOR=0.401	GT:AD:DP:GQ:PL	0/1:23,30:53:99:805,0,639	19	0	2	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.001	B	.	.	1.000	N	0.55	N	-0.28	T	-0.989	T	0.121	T	0.114	1.268	10.14	-4.52	-1.174	-2.695	8.886	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3438	3239.79	87	chr19	37887093	.	A	G	3239.79	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-3.813e+00;DP=2213;ExcessHet=7.7275;FS=216.184;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.406;MQ=60.00;MQRankSum=0.00;QD=2.67;ReadPosRankSum=1.38;SOR=11.319	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,18:120:69:0|1:37887093_A_G:69,0,3805:37887093	5	0	11	5
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	0	N	1.1	T	-1.038	T	0.044	T	0.146	0.505	6.738	0.383	0.403	-0.759	2.678	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	6132.23	64	chr19	37887095	.	C	T	6132.23	.	AC=15;AF=0.500;AN=30;BaseQRankSum=-4.055e+00;DP=2145;ExcessHet=17.4423;FS=296.629;InbreedingCoeff=-0.7500;MLEAC=18;MLEAF=0.600;MQ=60.00;MQRankSum=0.00;QD=3.74;ReadPosRankSum=1.29;SOR=12.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,18:120:69:0|1:37887093_A_G:69,0,3805:37887093	0	0	15	6
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.213	B	0.033	B	.	.	1.000	N	0	N	1.06	T	-1.038	T	0.045	T	0.239	-0.012	3.951	2.35	0.269	1.921	5.276	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	5559.48	64	chr19	37887096	.	A	G	5559.48	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.174e+00;DP=2173;ExcessHet=17.4423;FS=266.005;InbreedingCoeff=-0.7148;MLEAC=18;MLEAF=0.563;MQ=60.00;MQRankSum=0.00;QD=3.41;ReadPosRankSum=1.27;SOR=11.998	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:101,18:119:72:0|1:37887093_A_G:72,0,3771:37887093	1	0	15	5
chr19	38496415	38496415	C	T	exonic	RYR1	.	nonsynonymous SNV	RYR1:NM_000540:exon41:c.C6670T:p.R2224C	Central core disease, Autosomal recessive, Autosomal dominant;King-Denborough syndrome, Autosomal dominant;Minicore myopathy with external ophthalmoplegia, Autosomal recessive;Neuromuscular disease, congenital, with uniform type 1 fiber, Autosomal recessive, Autosomal dominant	.	0	1520	2	0	0	2	0.000657462	.	.	226124	Malignant_hyperthermia,_susceptibility_to,_1|not_specified|not_provided|RYR1-related_disorder	MONDO:MONDO:0007783,MedGen:C2930980,OMIM:145600,Orphanet:423|MedGen:CN169374|MedGen:C3661900|MedGen:CN239331	reviewed_by_expert_panel	Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.926	D	0.000	U	0.999	D	0	N	-3.76	D	0.770	D	0.797	D	0.855	2.870	15.56	4.59	2.367	1.526	14.067	0.728	0.177865866187	.	0.000199681	0.0002	0	8.661e-05	0	0	6.049e-05	0	0.0010	0.0001552	24	154602	rs199870223	0.0002	0.0002	0.0001	0.0002	0.0011	0.0002	0.0001	0.0009	0.0008	2.987e-05	2.236e-05	0	0	0	0.0002	0.0001	8.279e-05	0.0011	9.19e-05	9.185e-05	0.0001	8.055e-05	0.0008	5.523e-05	4.361e-05	0.0003	0.0002	4.811e-05	0	0	0	0	0	0	0.0001	0.0005	0.0008	0.054	0.38633	T	.	.	.	0.999	0.77913	D	0.878	0.66095	P	0.000007	0.62929	U	0.000000	0.998995	0.45836	D	0	0.06538	N	-3.76	0.95561	D	-2.71	0.57762	D	0.866	0.86297	0.770	0.94045	D	0.797	0.93110	D	10	0.5114082	0.62118	D	0.177866	0.85318	D	0.728	0.90457	0.642	0.77903	0.981263459425	0.98105	0.7600790132381781	0.75955	1.04060265432	0.75784	0.759246170521	0.75817	T	0.829046	0.95898	D	0.0937527	0.63609	D	0.297138	0.88067	D	0.254625449383263	0.23078	T	0.974503	0.90930	D	0.21979313	0.44520	0.1410191	0.33596	0.21979313	0.44519	0.1410191	0.33595	-6.451	0.49907	T	0.14990110138184404	0.17566	0.171	0.37558	B	.;.	.;.	4.341733	0.66608	25.0	0.99849121000446905	0.92838	0.91441	0.53540	D	AEFBI	0.572004	0.57576	D	0.322533712253234	0.57306	3.897537	0.363242676711484	0.59310	4.10768	0.868912116348219	0.25375	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	4.59	4.59	0.56297	1.246000	0.32405	3.335000	0.37659	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.8481:0.1519:0.0	14.067	0.64357	752	0.51611	.;RIH domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1175.98	38	chr19	38496415	.	C	T	1175.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.25;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.53;ReadPosRankSum=-9.630e-01;SOR=0.741	GT:AD:DP:GQ:PL	0/1:62,40:102:99:1190,0,1596	20	0	1	0
chr19	39840647	39840647	C	T	exonic	FBL	.	nonsynonymous SNV	FBL:NM_001436:exon2:c.G151A:p.G51S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.385	B	0.041	B	0.689	N	1.000	N	0.345	N	-1.74	D	-0.860	T	0.243	T	0.413	2.058	12.84	-5.95	-1.463	-0.267	8.071	0.291	0.00761614061848	.	.	1.02e-05	0	0.0001	0	0	0	0	0	6.5e-06	1	154602	rs759805326	6.849e-06	6.84e-06	6.814e-06	6.884e-06	8.999e-06	3.46e-06	2.53e-06	4.55e-06	3.32e-06	0	0	0	0	0	0	8.999e-06	0	0	1.315e-05	1.313e-05	2.57e-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	0.009	0.57480	D	0.049	0.51737	D	0.296	0.32457	B	0.008	0.13708	B	0.689014	0.06135	N	1.173890	0.999883	0.19853	N	0.925	0.23481	L	-1.74	0.83413	D	-1.15	0.29525	N	0.25	0.28264	-0.8598	0.51277	T	0.243	0.61189	T	10	0.10994753	0.20531	T	0.007616	0.20219	T	0.291	0.61040	0.365	0.37199	0.811544811333	0.80977	0.5809700608621885	0.58026	0.475146259266	0.46692	0.624365270138	0.56346	T	0.16091	0.50494	T	0.0331471	0.56141	T	-0.190163	0.55576	T	0.0761367165473496	0.09485	T	.	.	.	0.066166654	0.14211	0.056036472	0.09939	0.066166654	0.14210	0.056036472	0.09939	-7.502	0.57624	D	.	.	0.125	0.29670	B	.;.;.	.;.;.	1.070525	0.14528	11.10	0.89314492851366412	0.18691	0.07695	0.13699	N	AEFBCI	0.056261	0.10386	N	-1.31387174306462	0.03515	0.1571715	-1.46400204133827	0.02646	0.1220568	0.999966815685408	0.48965	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	2.97	-5.95	0.02054	1.542000	0.35742	.	.	0.599000	0.40250	0.070000	0.22072	0.973000	0.29867	0.002000	0.04165	0.0:0.1619:0.6043:0.2338	8.071	0.29850	592	0.68746	.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	892.98	33	chr19	39840647	.	C	T	892.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.31;DP=752;ExcessHet=0.0000;FS=3.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.17;ReadPosRankSum=0.014;SOR=1.292	GT:AD:DP:GQ:PL	0/1:31,32:63:99:907,0,760	20	0	1	0
chr19	39918623	39918623	C	T	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon4:c.G1673A:p.R558H,	.	.	.	.	.	.	.	.	.	.	.	2387907	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	1.0	D	0.98	D	0.004	U	1.000	N	1.45	L	0.22	T	-0.850	T	0.242	T	0.358	1.343	10.41	0.91	0.355	-0.111	8.878	0.224	0.010784759308	0.0005	0.000399361	0.0011	0.0011	0.0009	0	0.0022	0.0012	0	0.0009	0.0005886	91	154602	rs149431494	0.0008	0.0006	0.0008	0.0008	0.0009	0.0007	0.0007	0.0007	0.0007	0.0002	0.0008	0	0	0.0009	0.0005	0.0008	0.0009	0.0009	0.0008	0.0008	0.0007	0.0009	0.0025	0.0007	0.0006	0.0019	0.0017	0.0002	0	0.0025	0	0	0.0013	0	0.0008	0.0019	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.003665	0.34636	U	0.180937	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.8496	0.51996	T	0.242	0.61071	T	10	0.025146395	0.00718	T	0.010785	0.27705	T	.	.	.	.	.	.	.	.	.	.	0.365833759308	0.20233	T	.	.	.	-0.363046	0.03961	T	-0.3348	0.40931	T	0.0867125019431114	0.10824	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.914363	0.24313	16.35	0.99633947727522709	0.76203	0.05494	0.11380	N	AEFDBI	0.074858	0.15018	N	-0.149753217490821	0.35246	2.02199	-0.306154878960445	0.27899	1.551469	0.0042518072846399	0.10476	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.67	0.91	0.18466	-0.543000	0.06174	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.152000	0.20376	0.2976:0.558:0.1444:0.0	8.878	0.34517	606	0.67383	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	549.98	34	chr19	39918623	.	C	T	549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.34;DP=668;ExcessHet=0.0000;FS=1.831;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.09;ReadPosRankSum=2.36;SOR=0.346	GT:AD:DP:GQ:PL	0/1:22,20:42:99:564,0,573	20	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	778.0	37	chr19	40667990	.	CTGT	*,C	778.0	.	AC=25,1;AF=0.595,0.024;AN=42;DP=1037;ExcessHet=0.3152;FS=2.665;InbreedingCoeff=0.2195;MLEAC=25,1;MLEAF=0.595,0.024;MQ=60.00;QD=0.91;SOR=0.513	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,30,0:55:99:0|1:40667975_C_T:1098,0,931,1174,1021,2195:40667975	4	8	8	0
chr19	41094406	41094406	A	C	exonic	CYP2A13	.	nonsynonymous SNV	CYP2A13:NM_000766:exon7:c.A1135C:p.K379Q,	.	.	4	1496	20	2	0	24	0.00795756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.006	B	0.008	B	0.004	N	1.000	N	0.52	N	-0.46	T	-1.047	T	0.093	T	0.2	0.623	7.352	2.18	0.193	-0.232	4.193	0.031	.	0.0050	0.0165735	0.0106	0.0042	0.0013	0.0038	0.0085	0.0061	0.0099	0.0437	0.0097541	1508	154602	rs115698903	0.0070	0.0070	0.0057	0.0083	0.0436	0.0069	0.0069	0.0425	0.0420	0.0051	0.0010	0.0032	0.0024	0.0099	0.0038	0.0046	0.0074	0.0436	0.0067	0.0067	0.0062	0.0073	0.0467	0.0064	0.0062	0.0417	0.0398	0.0051	0	0.0014	0.0035	0.0054	0.0067	0.0068	0.0065	0.0038	0.0467	0.316	0.13744	T	0.497	0.11299	T	0.006	0.13644	B	0.008	0.13708	B	0.003790	0.34487	N	0.237828	0.99961	0.20887	N	0.825	0.20901	L	-0.46	0.70014	T	0.23	0.04613	N	0.113	0.10056	-1.0471	0.15217	T	0.093	0.35498	T	10	0.003399998	0.00059	T	.	.	.	0.031	0.07369	.	.	.	.	0.19978786823092032	0.19895	0.29519374901	0.31926	0.280077129602	0.07503	T	0.015972	0.13294	T	-0.53402	0.00364	T	-0.509159	0.21401	T	0.00563211252623027	0.00061	T	0.680232	0.28883	T	0.32489017	0.55049	0.050949696	0.08100	0.32489017	0.55049	0.050949696	0.08099	-4.741	0.33896	T	.	.	0.102	0.18206	B	.	.	0.413715	0.07843	4.542	0.90298985252586006	0.19566	0.19985	0.20871	N	AEFDBI	0.115772	0.22749	N	-0.845328163276663	0.12164	0.5913215	-0.789467181940793	0.14753	0.7725204	2.1801934581752E-4	0.05997	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.36	2.18	0.26813	-1.125000	0.03368	-3.325000	0.02875	0.632000	0.51917	0.000000	0.06391	0.000000	0.08366	0.665000	0.33109	0.6726:0.0:0.1762:0.1512	4.193	0.09891	716	0.55970	.	.	.	.	.	rs115698903	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	0.02381	3758.98	36	chr19	41094406	.	A	C	3758.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.077;DP=1012;ExcessHet=0.0000;FS=4.957;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-4.710e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/1:135,145:280:99:3773,0,3661	20	0	1	0
chr19	41579527	41579527	C	T	exonic	CEACAM21	.	nonsynonymous SNV	CEACAM21:NM_001098506:exon3:c.C599T:p.T200I	.	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.988	D	0.838	P	.	.	1.000	N	1.915	M	2.77	T	-1.052	T	0.039	T	0.236	1.545	11.12	-3.53	-0.535	-0.215	2.908	0.035	0.00154109281056	0.0014	0.000599042	0.0012	0	0.0005	0	0	0.0019	0.0026	0.0009	0.0009573	148	154602	rs139036367	0.0009	0.0009	0.0008	0.0009	0.0043	0.0008	0.0008	0.0030	0.0026	0.0001	0.0005	0.0017	0	1.873e-05	0.0043	0.0009	0.0014	0.0008	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0008	0.0006	0	9.42e-05	0	0.0014	0.0019	0.0004	0.053	0.38863	T	0.291	0.28482	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.77	0.11407	T	-4.72	0.79998	D	0.09	0.06990	-1.0516	0.13954	T	0.039	0.16978	T	9	0.015399635	0.00323	T	0.001541	0.02420	T	0.035	0.08770	.	.	0.0482279557977	0.04254	0.3101955809135996	0.30932	0.13162313656	0.14841	.	.	.	.	.	.	-0.569624	0.00222	T	-0.615629	0.11532	T	0.136128589510918	0.15938	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.52385	B	.;.;.	.;.;.	0.156737	0.05477	1.946	0.98514453608873587	0.42386	0.00329	0.01719	N	AEFBI	0.026900	0.02103	N	-0.824227230968977	0.12692	0.6203225	-1.10763120710169	0.07553	0.3678649	4.07064757860546E-4	0.06860	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	3.34	-3.53	0.04369	-0.306000	0.08217	-10.165000	0.00732	-1.699000	0.00759	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1495:0.3703:0.3662:0.114	2.908	0.05377	849	0.35778	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|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	0	0	0	0	0	0	0	1	0	0	0	0.04762	3758.11	39	chr19	41579527	.	C	T	3758.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.76;DP=1194;ExcessHet=0.1072;FS=0.385;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-4.280e-01;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:110,76:186:99:1|0:41579520_G_A:1877,0,4304:41579520	19	0	2	0
chr19	41756758	41756758	G	A	exonic	CEACAM6	.	nonsynonymous SNV	CEACAM6:NM_002483:exon2:c.G223A:p.G75S,	.	.	10	1510	2	0	0	2	0.000661813	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.007	B	0.049	B	.	.	1.000	N	-0.18	N	-0.19	T	-1.046	T	0.084	T	0.084	-1.171	0.088	-4.29	-2.455	-6.127	5.079	0.032	0.00649169048978	.	0.00139776	0.0012	0	0	0	0	0	0	0.0087	0.0009767	151	154602	rs199857146	0.0006	0.0006	0.0003	0.0008	0.0091	0.0005	0.0005	0.0086	0.0084	0	2.236e-05	0	2.519e-05	0	0.0002	4.496e-06	0.0007	0.0091	0.0002	0.0002	9e-05	0.0003	0.0066	0.0002	0.0001	0.0048	0.0042	0	0	0	0	0	0	0	0	0	0.0066	0.76	0.03481	T	0.731	0.05146	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.19	0.65931	T	1.07	0.01280	N	0.052	0.02366	-1.0457	0.15621	T	0.084	0.32814	T	9	0.0057451725	0.00128	T	0.006492	0.17100	T	0.032	0.07718	0.317	0.29419	0.349204839081	0.34528	0.1259997598882431	0.12525	0.158427851703	0.17892	0.224263802171	0.01571	T	.	.	.	-0.613823	0.00120	T	-0.648093	0.09087	T	0.0282232896935353	0.01721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.11076	B	.	.	-1.904799	0.00125	0.002	0.53588798938699067	0.04969	0.00088	0.00587	N	AEFGBI	0.024339	0.01490	N	-1.92911001878979	0.00299	0.01282971	-2.03114082680488	0.00263	0.01160249	0.0179510922401284	0.13007	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	2.15	-4.29	0.03465	-6.357000	0.00085	-20.000000	0.00162	-0.453000	0.05137	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2745:0.3399:0.3855:0.0	5.079	0.13982	585	0.69300	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	4498.98	64	chr19	41756758	.	G	A	4498.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.707e+00;DP=1826;ExcessHet=0.0000;FS=0.376;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.043;SOR=0.716	GT:AD:DP:GQ:PL	0/1:201,170:371:99:4513,0,5610	20	0	1	0
chr19	41884481	41884481	C	A	exonic	ARHGEF1	.	nonsynonymous SNV	ARHGEF1:NM_199002:exon1:c.C14A:p.S5Y,	.	.	417	1103	2	0	0	2	0.000905797	.	.	1158556	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	0.104	B	0.056	B	.	.	1.000	N	.	.	-0.03	T	-0.898	T	0.172	T	0.041	2.667	14.88	1.02	0.371	0.394	4.537	0.029	.	.	0.00259585	0.0018	0	0.0004	0	0	0	0.0039	0.0127	0.0015006	232	154602	rs555585297	0.0007	0.0007	0.0004	0.0009	0.0103	0.0006	0.0006	0.0098	0.0096	2.987e-05	8.951e-05	0	0	0	0.0009	5.396e-06	0.0007	0.0103	0.0003	0.0003	0.0002	0.0003	0.0085	0.0002	0.0002	0.0064	0.0057	2.406e-05	0	0	0	0	0	0	0	0.0005	0.0085	0.001	0.78490	D	0.007	0.69154	D	0.073	0.24078	B	0.056	0.26147	B	.	.	.	.	1	0.08975	N	.	.	.	-0.36	0.68754	T	-0.02	0.07299	N	0.183	0.23632	-0.8976	0.48234	T	0.172	0.51452	T	8	0.0035879016	0.00065	T	.	.	.	0.029	0.06676	0.27	0.21893	0.386522206555	0.38262	0.15391246243640502	0.15313	0.620174703938	0.56340	0.472509145737	0.35026	T	.	.	.	-0.524938	0.00411	T	-0.516425	0.20658	T	0.103818287617442	0.12772	T	0.433257	0.11819	T	.	.	.	.	.	.	.	.	-6.092	0.47043	T	.	.	0.162	0.35788	B	.;.	.;.	1.629651	0.20810	14.92	0.98943139586690321	0.48978	0.06961	0.12987	N	ALL	0.030572	0.03103	N	-0.697077908979031	0.16104	0.8175887	-0.756983240759069	0.15551	0.8184219	0.99999999999101	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.24	1.02	0.19102	0.556000	0.23144	0.743000	0.21176	0.599000	0.40250	0.005000	0.17040	0.024000	0.20971	0.811000	0.38219	0.0:0.6409:0.2296:0.1295	4.537	0.11438	724	0.55085	.;.	.	.	.	.	.	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	0.02381	943.98	37	chr19	41884481	.	C	A	943.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.734e+00;DP=767;ExcessHet=0.0000;FS=6.386;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=0.018;SOR=0.264	GT:AD:DP:GQ:PL	0/1:29,42:71:99:958,0,677	20	0	1	0
chr19	42903721	42903721	T	G	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_002782:exon6:c.A1241C:p.E414A,	.	.	1233	287	2	0	0	2	0.00347222	0.0001	0.056	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.001	B	.	.	1.000	N	0.16	N	2.43	T	-0.948	T	0.019	T	0.462	-2.523	0.003	0.362	0.400	0.486	.	0.186	.	0.0006	0.00159744	0.0063	0	0.0026	0	0	0.0005	0.0061	0.0180	0.000815	126	154602	rs374452199	0.0009	0.0009	0.0006	0.0012	0.0116	0.0008	0.0008	0.0110	0.0107	6.91e-05	0.0003	4.196e-05	2.914e-05	0.0003	0.0054	0.0002	0.0011	0.0116	0.0007	0.0006	0.0004	0.0009	0.0127	0.0006	0.0005	0.0097	0.0087	0.0002	0	0.0003	0	0	0.0005	0.0075	0.0004	0	0.0127	0.714	0.03996	T	0.336	0.18232	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.045	0.08109	N	2.43	0.15261	T	-0.54	0.16598	N	0.136	0.13341	-0.9476	0.41380	T	0.019	0.08173	T	8	0.005422771	0.00119	T	0.001146	0.01410	T	0.186	0.46104	.	.	0.0716867268079	0.06686	0.020474457306254006	0.02000	.	.	.	.	.	0.002891	0.02288	T	-0.245288	0.14682	T	-0.590116	0.13655	T	0.00688147682305339	0.00078	T	0.227177	0.03016	T	0.05552023	0.10801	0.098171026	0.23394	0.05552023	0.10800	0.098171026	0.23394	-2.547	0.06111	T	.	.	0.101	0.17360	B	.	.	-0.066632	0.03845	0.827	0.059503319257704725	0.00017	0.00626	0.02758	N	AEFI	0.033580	0.04012	N	-1.2997599944225	0.03679	0.1647695	-1.3746850570994	0.03523	0.1645432	3.54382195650187E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.362	0.362	0.15348	0.516000	0.22523	-3.059000	0.03098	0.217000	0.18040	0.001000	0.13787	0.000000	0.08366	0.011000	0.09372	.	.	.	683	0.59664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	66.34	9	chr19	42903721	.	T	G	66.34	.	AC=1;AF=0.025;AN=40;BaseQRankSum=1.17;DP=378;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0261;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=6.03;ReadPosRankSum=0.789;SOR=1.179	GT:AD:DP:GQ:PL	0/1:8,3:11:80:80,0,199	19	0	1	1
chr19	43914999	43914999	C	T	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.G437A:p.S146N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.015	B	0.004	B	0.565	N	1.000	N	1.09	L	2.35	T	-0.979	T	0.032	T	0.04	-0.063	3.694	0.91	0.407	0.746	6.594	0.040	0.00312665278992	.	.	1.661e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs763889724	2.751e-06	4.788e-06	4.099e-06	1.385e-06	9.047e-05	6.4e-07	4.3e-07	2.397e-05	1.264e-05	9.047e-05	0	0	0	0	0	9.038e-07	0	0	1.971e-05	1.97e-05	3.853e-05	0	7.236e-05	5.24e-06	2.45e-06	1.919e-05	1.032e-05	7.236e-05	0	0	0	0	0	0	0	0	0	0.572	0.06145	T	0.108	0.37589	T	0.015	0.17086	B	0.004	0.10090	B	0.565193	0.05447	N	1.329360	1	0.08975	N	0.51	0.13489	N	2.35	0.16217	T	-0.35	0.12847	N	0.034	0.01135	-0.9790	0.35231	T	0.032	0.13811	T	10	0.059865475	0.07264	T	0.003127	0.06815	T	0.040	0.10527	.	.	0.215109475489	0.21095	0.1130057698155615	0.11228	0.169148134631	0.19067	0.231817916036	0.02105	T	0.020822	0.16323	T	-0.537667	0.00346	T	-0.773429	0.02657	T	0.0105001855562884	0.00145	T	0.0842916	0.09420	T	0.027025934	0.01838	0.036350884	0.03066	0.027025934	0.01838	0.036350884	0.03065	-5.867	0.45153	T	.	.	0.083	0.14108	B	.;.;.;.	.;.;.;.	0.451688	0.08217	4.955	0.46030335872620071	0.03657	0.03672	0.08936	N	AEFBI	0.029240	0.02725	N	-1.07575094694542	0.07092	0.3284514	-1.14943610364949	0.06778	0.327421	0.00284738656738171	0.09746	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.97	0.91	0.18466	0.939000	0.28576	.	.	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.8342:0.0:0.1658	6.594	0.21856	861	0.33516	.;.;.;.	.	.	.	.	.	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	1	0	0	0	0.02381	96.98	44	chr19	43914999	.	C	T	96.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.907e+00;DP=1216;ExcessHet=0.0000;FS=112.697;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.11;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,16:104:99:0|1:43914999_C_T:111,0,3190:43914999	20	0	1	0
chr19	43915003	43915003	A	G	exonic	ZNF45	.	nonsynonymous SNV	ZNF45:NM_003425:exon10:c.T433C:p.F145L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.001	B	0.264	N	1.000	N	1.805	L	1.01	T	-0.988	T	0.090	T	0.098	0.299	5.620	1.35	0.593	-0.060	5.295	0.038	0.00769626429319	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1384583909	6.881e-07	1.368e-06	0	1.385e-06	2.274e-05	0	0	.	.	0	2.274e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.202	0.27414	T	0.0	0.02946	B	0.001	0.04355	B	0.263507	0.15267	N	0.483859	1	0.08975	N	2.275	0.64647	M	1.01	0.41058	T	-0.84	0.22944	N	0.164	0.18376	-0.9877	0.33175	T	0.090	0.34573	T	10	0.094732106	0.16866	T	0.007696	0.20431	T	0.038	0.09825	0.402	0.43245	0.235664433957	0.23186	0.12031759696109624	0.11958	0.213602836398	0.23874	0.334945380688	0.15680	T	0.035438	0.23719	T	-0.368212	0.03685	T	-0.683822	0.06753	T	0.0350863611179524	0.02822	T	0.0770923	0.09368	T	0.05302415	0.09975	0.03890542	0.03862	0.05302415	0.09975	0.03890542	0.03862	-3.275	0.13417	T	.	.	0.333	0.68334	B	.;.;.;.	.;.;.;.	0.469238	0.08386	5.142	0.45021709716704789	0.03503	0.08434	0.14363	N	AEFBI	0.031285	0.03311	N	-1.04982718632548	0.07591	0.3531383	-1.11553569626414	0.07403	0.3599641	0.00212158374293667	0.09174	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.68	1.35	0.21078	0.579000	0.23490	.	.	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5556:0.3441:0.1003:0.0	5.295	0.15059	861	0.33516	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.07143	306.68	44	chr19	43915003	.	A	G	306.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.810e+00;DP=1228;ExcessHet=0.3300;FS=119.091;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=1.28;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,16:101:99:0|1:43914999_C_T:121,0,3085:43914999	18	0	3	0
chr19	44106734	44106734	C	T	exonic	ZNF224	.	nonsynonymous SNV	ZNF224:NM_001321645:exon6:c.C574T:p.R192C	.	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.227	B	0.077	B	.	.	1.000	N	1.355	L	1.95	T	-0.988	T	0.033	T	0.125	1.992	12.62	-0.215	0.197	-2.236	0.356	0.016	0.00180476308206	7.7e-05	0.00159744	0.0009	0	0	0	0	3.039e-05	0.0034	0.0072	0.0007438	115	154602	rs370083464	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0066	0.0064	8.979e-05	4.496e-05	3.881e-05	0.0001	0	0.0017	3.514e-05	0.0004	0.0071	0.0003	0.0003	0.0001	0.0005	0.0081	0.0003	0.0002	0.0061	0.0054	0.0001	0	0	0	0.0002	0	0	2.94e-05	0.0014	0.0081	0.13	0.26740	T	0.094	0.39645	T	0.227	0.30477	B	0.077	0.28532	B	.	.	.	.	1	0.08975	N	1.79	0.46772	L	1.95	0.22474	T	-2.37	0.52289	N	0.066	0.03841	-0.9875	0.33224	T	0.033	0.14334	T	9	0.0056141615	0.00124	T	0.001805	0.03089	T	0.016	0.02506	.	.	0.203808441222	0.19973	0.027541311519720963	0.02704	0.12895111221	0.14542	0.199259132147	0.00435	T	0.016619	0.13705	T	-0.623399	0.00105	T	-0.6648	0.07946	T	0.0401297959322727	0.03714	T	0.152285	0.01295	T	0.060871076	0.12541	0.05805006	0.10660	0.060871076	0.12541	0.05805006	0.10660	-5.799	0.44566	T	.	.	0.130	0.27851	B	.	.	2.638606	0.34328	19.60	0.96285854470709042	0.29298	0.07864	0.13855	N	AEFGBCI	0.117223	0.22974	N	-0.834514853072959	0.12435	0.6060745	-0.927296939195573	0.11451	0.5834497	0.00757453496797421	0.11497	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.35	-0.215	0.12510	-1.014000	0.03752	.	.	0.544000	0.25403	0.000000	0.06391	0.000000	0.08366	0.409000	0.26983	0.3371:0.2762:0.165:0.2217	0.356	0.00331	610	0.67008	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	0.02381	3906.98	208	chr19	44106734	.	C	T	3906.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.03;DP=4625;ExcessHet=0.0000;FS=1.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.15;ReadPosRankSum=0.192;SOR=0.575	GT:AD:DP:GQ:PL	0/1:158,139:297:99:3921,0,4154	20	0	1	0
chr19	44792407	44792407	A	G	exonic	CBLC	.	nonsynonymous SNV	CBLC:NM_001130852:exon6:c.A892G:p.M298V	.	.	420	1061	37	4	0	45	0.020766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.974	D	0.969	D	0.002	N	1.000	D	2.365	M	-3.48	D	0.613	D	0.794	D	0.645	2.694	14.97	3.81	1.748	6.567	10.871	0.799	.	0.0066	0.0061901	0.0080	0.0013	0.0027	0	0.0032	0.0100	0.0077	0.0144	0.0078977	1221	154602	rs149074838	0.0083	0.0083	0.0080	0.0085	0.0208	0.0081	0.0081	0.0178	0.0167	0.0013	0.0034	0.0042	0	0.0031	0.0208	0.0089	0.0080	0.0130	0.0058	0.0058	0.0060	0.0056	0.0141	0.0055	0.0053	0.0114	0.0104	0.0016	0	0.0033	0.0052	0.0002	0.0029	0.0306	0.0090	0.0095	0.0141	0.012	0.54683	D	0.018	0.59732	D	0.889	0.57829	P	0.775	0.72001	P	0.001904	0.37691	N	0.114561	0.99944	0.51968	D	2.6	0.76081	M	-3.48	0.94584	D	-3.58	0.69118	D	0.462	0.49874	0.613	0.92069	D	0.794	0.93032	D	10	0.0088893175	0.00201	T	.	.	.	0.799	0.93425	.	.	0.929045453442	0.92831	0.3738723347436617	0.37301	0.326134606744	0.34764	0.467776715755	0.34374	T	0.726295	0.92304	D	-0.0719816	0.41010	T	0.134858	0.79210	D	0.0292411764619969	0.01874	T	0.680232	0.28883	T	0.28027663	0.51076	0.36654878	0.61982	0.28027663	0.51076	0.36654878	0.61981	-9.169	0.71653	D	.	.	0.204	0.42920	B	.;.;.	.;.;.	3.497206	0.48908	22.7	0.98907146019890746	0.48308	0.88917	0.49082	D	AEFDBHCIJ	0.855031	0.77211	D	0.605108900228125	0.73495	5.975778	0.539785417597971	0.70691	5.542364	0.999971891779467	0.50053	0.706548	0.73137	0	0.618376	0.53248	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	3.81	3.81	0.43020	5.924000	0.69776	.	.	0.738000	0.86027	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	10.871	0.46088	616	0.66398	.;.;.	.	.	CEACAM19	Esophagus_Mucosa	.	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	0.02381	1368.98	34	chr19	44792407	.	A	G	1368.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.804e+00;DP=819;ExcessHet=0.0000;FS=1.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.22;ReadPosRankSum=0.207;SOR=0.650	GT:AD:DP:GQ:PL	0/1:62,60:122:99:1383,0,1573	20	0	1	0
chr19	45408641	45408641	G	A	exonic	POLR1G	.	nonsynonymous SNV	POLR1G:NM_001297590:exon3:c.G679A:p.E227K	.	.	398	1116	7	1	0	9	0.00401606	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	1.0	D	0.985	D	0.035	N	0.784	N	2.005	M	2.5	T	-1.074	T	0.079	T	0.309	2.009	12.67	4.33	2.245	1.711	10.261	0.060	0.0136400898117	0.0019	0.000798722	0.0013	0.0005	8.67e-05	0	0.0008	0.0017	0.0045	0.0013	0.0012807	198	154602	rs113047593	0.0020	0.0020	0.0020	0.0019	0.0023	0.0019	0.0019	0.0022	0.0022	0.0002	4.472e-05	3.826e-05	0	0.0005	0.0019	0.0023	0.0014	0.0022	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0018	0.0017	0.0004	0	0	0	0	0	0	0.0020	0.0009	0.0017	0.053	0.38863	T	0.06	0.45744	T	1.0	0.90584	D	0.985	0.76457	D	0.034747	0.24730	N	0.336436	0.783742	0.29304	N	2.72	0.79541	M	2.5	0.14408	T	-1.66	0.39692	N	0.15	0.20793	-1.0743	0.08493	T	0.079	0.31435	T	10	0.009910941	0.00222	T	0.01364	0.33196	T	0.060	0.17295	.	.	0.294206760003	0.29026	0.2180586157471834	0.21721	0.600283134816	0.55121	0.332840621471	0.15362	T	0.018136	0.14670	T	-0.507029	0.00522	T	-0.494549	0.22916	T	0.0306642108923069	0.02093	T	0.60064	0.22426	T	0.099687874	0.23530	0.1127208	0.27200	0.099687874	0.23530	0.1127208	0.27199	-6.752	0.52418	T	.	.	0.096	0.15206	B	.;.	.;.	2.027335	0.25767	16.88	0.99121188166760132	0.52985	0.17794	0.19990	N	AEFBCI	.	.	.	0.0451845354351822	0.43921	2.675719	-0.153414909380274	0.33278	1.901862	0.99981760845323	0.43459	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	4.33	4.33	0.51083	1.935000	0.39802	.	.	0.676000	0.76740	0.037000	0.20830	.	.	0.013000	0.09966	0.0:0.2012:0.7987:0.0	10.261	0.42604	861	0.33516	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1549.98	50	chr19	45408641	.	G	A	1549.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.180e-01;DP=1034;ExcessHet=0.0000;FS=3.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.474;SOR=0.392	GT:AD:DP:GQ:PL	0/1:51,59:110:99:1564,0,1305	20	0	1	0
chr19	47319943	47319943	G	T	exonic	C5AR1	.	nonsynonymous SNV	C5AR1:NM_001736:exon2:c.G166T:p.A56S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.322	B	0.156	B	0.000	U	0.990	N	1.1	L	1.24	T	-1.053	T	0.064	T	0.742	2.982	15.94	2.51	0.386	1.018	8.253	0.176	0.00777939764802	.	0.000399361	0.0001	9.61e-05	8.637e-05	0	0	1.498e-05	0	0.0009	0.0001294	20	154602	rs202146387	7.935e-05	7.935e-05	7.895e-05	7.975e-05	0.0004	6.733e-05	6.267e-05	0.0003	0.0002	2.987e-05	2.236e-05	0	0	0	0.0002	6.745e-05	8.279e-05	0.0004	5.907e-05	5.905e-05	3.853e-05	8.053e-05	0.0006	3.074e-05	2.208e-05	0.0002	8.989e-05	7.213e-05	0	0	0	0	0	0	4.409e-05	0	0.0006	0.082	0.33254	T	0.157	0.31730	T	0.322	0.33059	B	0.156	0.34472	B	0.000173	0.48594	U	0.136944	0.98979	0.24254	N	1.45	0.36711	L	1.24	0.36691	T	-1.28	0.32185	N	0.069	0.04188	-1.0526	0.13682	T	0.064	0.26597	T	10	0.025001884	0.00708	T	0.007779	0.20642	T	0.176	0.44373	.	.	0.440810947182	0.43702	0.2599368686204478	0.25906	0.160703966068	0.18139	0.26132696867	0.05050	T	0.195769	0.55195	T	-0.244521	0.14778	T	-0.246283	0.50182	T	0.0451674044332445	0.04632	T	0.449255	0.12651	T	0.21735682	0.44217	0.13356599	0.32025	0.21735682	0.44217	0.13356599	0.32025	-5.001	0.36851	T	.	.	0.170	0.37312	B	.	.	1.366539	0.17758	13.35	0.9941916716097019	0.63694	0.20694	0.21134	N	AEFDBI	0.189543	0.31679	N	-0.508362375940406	0.21809	1.160109	-0.490295303506936	0.22420	1.217628	0.69981306420784	0.22685	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	4.67	2.51	0.29435	1.093000	0.30550	-0.521000	0.08690	0.606000	0.46413	0.001000	0.13787	0.000000	0.08366	0.838000	0.39538	0.0848:0.0:0.7589:0.1562	8.253	0.30897	846	0.36215	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	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	0.02381	2695.98	110	chr19	47319943	.	G	T	2695.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.741e+00;DP=2750;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=-6.640e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:99,100:199:99:2710,0,2689	20	0	1	0
chr19	48661900	48661900	A	C	exonic	NTN5	.	nonsynonymous SNV	NTN5:NM_145807:exon7:c.T1247G:p.L416R,	.	.	445	1067	10	0	0	10	0.00466418	.	.	2818542	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.996	D	0.000	D	1.000	D	2.525	M	1.76	T	-0.862	T	0.167	T	0.785	3.794	19.26	5.06	2.039	7.427	13.059	0.410	.	.	0.00359425	0.0035	0	0	0	.	0.0140	0	0.0017	0.0011837	183	154602	rs549539292	0.0092	0.0081	0.0095	0.0089	0.0104	0.0091	0.0090	0.0102	0.0101	0.0011	0.0082	0.0015	0.0100	0.0010	0.0021	0.0104	0.0074	0.0013	0.0054	0.0054	0.0060	0.0047	0.0085	0.0051	0.0049	0.0079	0.0077	0.0017	0	0.0074	0.0017	0.0046	0.0004	0.0034	0.0085	0.0057	0.0019	0.002	0.72154	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000078	0.52346	D	0.080024	0.999848	0.49770	D	2.835	0.82492	M	1.76	0.25996	T	-4.86	0.81187	D	0.661	0.67045	-0.8621	0.51111	T	0.167	0.50551	T	10	0.010433108	0.00232	T	.	.	.	0.410	0.72176	.	.	0.495506531988	0.49185	0.7480164270814224	0.74747	1.24829072966	0.81747	0.855714678764	0.90473	D	0.045124	0.27026	T	-0.218863	0.18147	T	-0.0761272	0.65186	T	0.107642182510275	0.13177	T	0.70163	0.31127	T	0.8168878	0.85010	0.7648551	0.86110	0.8168878	0.85012	0.7648551	0.86110	-8.491	0.64370	D	.	.	0.123	0.25850	B	.	.	4.738528	0.76397	26.5	0.99734213998723276	0.82975	0.98862	0.87844	D	AEFDBI	0.896644	0.83792	D	0.637419719655996	0.75555	6.32706	0.555034100713651	0.71748	5.702393	0.999998322355908	0.74766	0.580535	0.33130	0	0.491513	0.07743	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	5.06	5.06	0.67838	8.072000	0.89294	10.351000	0.83297	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.636000	0.32315	1.0:0.0:0.0:0.0	13.059	0.58410	735	0.53711	Netrin module, non-TIMP type|Netrin domain|Netrin module, non-TIMP 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	0.02381	109.98	19	chr19	48661900	.	A	C	109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.356;DP=446;ExcessHet=0.0000;FS=2.307;InbreedingCoeff=-0.0249;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=1.48;SOR=1.721	GT:AD:DP:GQ:PL	0/1:11,5:16:99:124,0,309	20	0	1	0
chr19	49154456	49154456	-	CATCAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATGATG:p.D261_V262insDD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,61,0,0:66:99:.:.:2378,111,0,2382,193,2495,2382,193,2495,2495	5	4	8	0
chr19	49154456	49154456	-	CAT	exonic	HRC	.	nonframeshift insertion	HRC:NM_002152:exon1:c.781_782insATG:p.D261_V262insD,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	20926.44	44	chr19	49154453	.	ACAT	A,ACATCATCAT,ACATCAT	20926.44	.	AC=17,1,3;AF=0.405,0.024,0.071;AN=42;BaseQRankSum=0.276;DP=1607;ExcessHet=2.0051;FS=3.406;InbreedingCoeff=-0.0476;MLEAC=17,1,3;MLEAF=0.405,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=23.81;ReadPosRankSum=0.061;SOR=0.953	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:2,61,0,0:66:99:.:.:2378,111,0,2382,193,2495,2382,193,2495,2495	5	4	8	0
chr19	50406228	50406228	A	G	exonic	POLD1	.	nonsynonymous SNV	POLD1:NM_001308632:exon10:c.A1289G:p.N430S	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Autosomal dominant	.	410	1111	1	0	0	1	0.000449843	.	.	479888	Colorectal_cancer,_susceptibility_to,_10|Hereditary_cancer-predisposing_syndrome	MONDO:MONDO:0012953,MedGen:C2675481,OMIM:612591,Orphanet:220460|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.86	T	0.002	B	0.003	B	0.270	N	0.993	N	-0.55	N	3.0	T	-0.972	T	0.007	T	0.017	0.709	7.779	-5.35	-1.022	-0.063	3.311	0.104	0.00675857508937	.	0.000199681	8.266e-06	0	0	0	0	0	0	6.067e-05	1.29e-05	2	154602	rs546554950	2.052e-06	2.736e-06	1.361e-06	2.75e-06	2.987e-05	5.5e-07	1.5e-07	.	.	2.987e-05	0	0	0	0	0	0	1.656e-05	1.159e-05	1.972e-05	1.969e-05	1.286e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	2.411e-05	0	0	0	0.0002	0	0	1.471e-05	0	0	0.853	0.02718	T	0.828	0.03739	T	0.002	0.09854	B	0.003	0.08700	B	0.270402	0.15139	N	0.656516	0.992859	0.23814	N	-0.145	0.04423	N	3.0	0.09167	T	0.61	0.02480	N	0.093	0.07398	-0.9722	0.36734	T	0.007	0.02360	T	10	0.027823776	0.00922	T	0.006759	0.17868	T	0.104	0.29647	0.471	0.54537	0.166414681773	0.16258	0.16773037350102635	0.16693	0.492194612246	0.47877	0.367228299379	0.20433	T	0.079061	0.36038	T	-0.410206	0.01981	T	-0.827009	0.01316	T	0.0129278810925486	0.00223	T	0.774123	0.41972	T	0.07863082	0.17917	0.03324038	0.02187	0.07863082	0.17916	0.03324038	0.02187	-2.234	0.04209	T	0.1029189198414818	0.07877	0.056	0.01011	B	.;.;.;.	.;.;.;.	0.744650	0.11139	7.784	0.68215701042232002	0.08590	0.15854	0.19113	N	AEFDBHI	0.114474	0.22546	N	-1.18795662059922	0.05181	0.2356033	-1.10653363423935	0.07574	0.368978	0.00151483907959098	0.08604	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	4.54	-5.35	0.02488	-0.233000	0.09056	0.085000	0.14440	0.756000	0.94297	0.001000	0.13787	0.004000	0.18990	0.991000	0.66497	0.1991:0.4831:0.1487:0.169	3.311	0.06604	784	0.47045	DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain;DNA-directed DNA polymerase, family B, exonuclease domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1026.98	35	chr19	50406228	.	A	G	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=853;ExcessHet=0.0000;FS=6.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.76;SOR=1.363	GT:AD:DP:GQ:PL	0/1:35,40:75:99:1041,0,820	20	0	1	0
chr19	50476234	50476234	A	C	exonic	FAM71E1	.	nonsynonymous SNV	FAM71E1:NM_001308429:exon1:c.T155G:p.L52R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.002	B	0.003	B	0.394	N	1.000	N	0.69	N	2.2	T	-0.996	T	0.026	T	0.238	3.465	17.74	-7.13	-1.300	-0.564	1.115	0.017	0.00826059310183	.	.	5.933e-05	0	0	0	0	0	0	0.0004	4.53e-05	7	154602	rs768601678	1.711e-05	1.71e-05	8.171e-06	2.614e-05	0.0003	1.175e-05	9.93e-06	0.0002	0.0001	0	0	0	0	0	0	0	4.969e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.45110	T	0.002	0.09854	B	0.001	0.08700	B	0.393965	0.04494	N	1.532860	1	0.08975	N	0.55	0.14455	N	.	.	.	.	.	.	0.258	0.29197	-0.9959	0.31055	T	0.026	0.11220	T	10	0.045063883	0.03535	T	0.008261	0.21878	T	.	.	0.219	0.14078	0.0716867268079	0.06686	0.45324918331568664	0.45242	0.254945854529	0.28073	0.380598366261	0.22341	T	0.007423	0.06827	T	-0.429407	0.01494	T	-0.518331	0.20465	T	0.0301392879944537	0.02012	T	0.317468	0.06331	T	0.12197901	0.28672	0.13177261	0.31635	0.12197901	0.28672	0.13177261	0.31634	-3.509	0.16940	T	.	.	0.094	0.17317	B	.;.	.;.	1.366484	0.17758	13.35	0.98158668115390146	0.38755	0.01351	0.04634	N	AEFGBHCIJ	0.078465	0.15831	N	-1.29456732158365	0.03740	0.1676196	-1.4280599892829	0.02974	0.137885	0.9999999999996	0.74766	0.652421	0.48094	0	0.606814	0.50340	0	0.64067	0.45733	0	0.603991	0.37454	0	.	.	3.98	-7.13	0.01379	-0.729000	0.05024	-4.013000	0.02394	0.750000	0.87069	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.3107:0.2029:0.0911:0.3953	1.115	0.01607	735	0.53711	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	828.98	37	chr19	50476234	.	A	C	828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.330e-01;DP=821;ExcessHet=0.0000;FS=1.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=1.89;SOR=0.476	GT:AD:DP:GQ:PL	0/1:37,34:71:99:843,0,1005	20	0	1	0
chr19	51491780	51491780	G	A	exonic	SIGLEC12	.	nonsynonymous SNV	SIGLEC12:NM_033329:exon7:c.C1295T:p.P432L	.	.	407	1085	30	0	0	30	0.0136364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.978	D	0.411	B	.	.	1.000	N	2.02	M	0.86	T	-0.993	T	0.113	T	0.197	0.839	8.389	-0.29	0.026	-0.678	3.308	0.029	.	0.0029	0.00339457	0.0065	0.0007	0.0037	0	0.0008	0.0045	0.0197	0.0294	0.0059378	918	154602	rs148583756	0.0043	0.0043	0.0036	0.0050	0.0250	0.0042	0.0042	0.0241	0.0238	0.0007	0.0032	0.0226	7.577e-05	0.0008	0.0123	0.0026	0.0055	0.0250	0.0033	0.0033	0.0030	0.0036	0.0216	0.0030	0.0029	0.0183	0.0170	0.0008	0.0011	0.0028	0.0237	0.0002	0.0003	0.0136	0.0032	0.0033	0.0216	0.039	0.42487	D	0.004	0.74150	D	0.059	0.58756	B	0.012	0.44827	B	.	.	.	.	1	0.08975	N	1.565	0.39561	L	0.86	0.46777	T	-3.03	0.62747	D	0.076	0.12627	-0.9929	0.31853	T	0.113	0.40307	T	9	0.005008042	0.00108	T	.	.	.	0.029	0.06676	.	.	0.320256813643	0.31633	0.0927146187490486	0.09203	0.0467582809392	0.05084	0.319799989462	0.13390	T	0.007289	0.06705	T	-0.585534	0.00178	T	-0.594259	0.13300	T	0.00936255406809378	0.00120	T	0.437456	0.12031	T	0.03649728	0.04500	0.053342342	0.08965	0.03649728	0.04499	0.053342342	0.08964	-4.158	0.26141	T	.	.	0.076	0.05935	B	.;.	.;.	0.360670	0.07334	3.949	0.90402295192980797	0.19663	0.00442	0.02154	N	AEFDBI	0.047985	0.08140	N	-0.746523125541995	0.14728	0.7361206	-0.955227494355757	0.10802	0.54642	8.23005530856632E-5	0.04703	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	2.08	-0.29	0.12211	-0.494000	0.06532	.	.	-0.121000	0.13915	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.174:0.276:0.5501:0.0	3.308	0.06595	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	6049.68	113	chr19	51491780	.	G	A	6049.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.498;DP=1268;ExcessHet=0.3300;FS=1.211;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=15.28;ReadPosRankSum=0.613;SOR=0.763	GT:AD:DP:GQ:PL	0/1:67,84:151:99:2271,0,1857	18	0	3	0
chr19	51824806	51824806	T	C	exonic	FPR3	.	nonsynonymous SNV	FPR3:NM_002030:exon2:c.T1058C:p.M353T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.309	B	0.026	B	0.564	N	1.000	N	1.79	L	-0.47	T	-0.798	T	0.253	T	0.321	0.799	8.204	1.82	1.090	1.715	5.672	0.098	0.0119373452934	.	0.000199681	0.0002	0	0	0	0	0	0	0.0012	0.00011	17	154602	rs560962882	5.782e-05	5.746e-05	2.462e-05	9.147e-05	0.0009	4.773e-05	4.393e-05	0.0008	0.0007	0	0	0	0	0	0	9.035e-07	6.67e-05	0.0009	1.971e-05	1.969e-05	0	4.032e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.996e-05	0	0	0	0	0	0	0	0	0	0.0006	0.009	0.57480	D	0.022	0.57587	D	0.309	0.32767	B	0.026	0.20792	B	0.564420	0.05443	N	1.274790	0.999955	0.19072	N	1.04	0.26193	L	-0.47	0.70133	T	-1.16	0.29727	N	0.294	0.34012	-0.7979	0.55268	T	0.253	0.62337	T	10	0.02584964	0.00767	T	0.011937	0.30057	T	0.098	0.28162	0.392	0.41606	0.574600906166	0.57128	0.19296135988194146	0.19214	0.369400020722	0.38465	0.425458967686	0.28588	T	0.019709	0.15652	T	-0.364005	0.03909	T	-0.346085	0.39653	T	0.0623072370660091	0.07527	T	0.380662	0.09189	T	0.39829028	0.60613	0.27785495	0.53741	0.39829028	0.60614	0.27785495	0.53740	-3.218	0.12701	T	.	.	0.164	0.37558	B	.;.	.;.	1.356797	0.17649	13.29	0.50821826516277813	0.04452	0.44454	0.27322	N	AEFDBIJ	0.066586	0.13047	N	-0.609195801976198	0.18668	0.9709869	-0.715537063651702	0.16574	0.8774163	0.990481726101559	0.32168	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	1.82	1.82	0.24209	0.810000	0.26841	.	.	0.593000	0.32247	0.271000	0.25055	0.000000	0.08366	0.029000	0.12982	0.0:0.0:0.0:1.0	5.672	0.16999	940	0.13648	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1133.98	39	chr19	51824806	.	T	C	1133.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.493e+00;DP=961;ExcessHet=0.0000;FS=4.900;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=2.02;SOR=1.349	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1148,0,1285	20	0	1	0
chr19	54633108	54633108	T	C	exonic	LILRB1	.	nonsynonymous SNV	LILRB1:NM_001081637:exon7:c.T1051C:p.W351R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.0	B	0.005	B	0.000	N	1.000	N	0.64	N	4.11	T	-0.937	T	0.006	T	0.074	-0.437	1.968	-4.16	-1.178	-4.299	2.666	0.016	0.000983764574232	.	.	3.295e-05	0	0	0	0	0	0	0.0002	2.59e-05	4	154602	rs765206177	1.262e-05	1.321e-05	1.117e-05	1.408e-05	0.0002	7.89e-06	6.51e-06	0.0001	8.812e-05	3.147e-05	0	0	0	0	0	0	3.399e-05	0.0002	2.098e-05	2.088e-05	2.735e-05	1.431e-05	0.0007	5.58e-06	2.55e-06	0.0002	9.61e-05	0	0	0	0	0	0	0	0	0	0.0007	0.426	0.09746	T	0.473	0.12281	T	0.0	0.02946	B	0.002	0.06944	B	0.000057	0.00387	N	14.826600	1	0.08975	N	.	.	.	4.11	0.02916	T	-1.47	0.45042	N	0.058	0.03175	-0.9373	0.43041	T	0.006	0.02168	T	10	0.032902986	0.01452	T	9.84E-4	0.01026	T	0.016	0.02506	0.42	0.46200	0.355658859761	0.35178	0.06504777047916012	0.06443	0.0951957454739	0.10748	0.260372936726	0.04935	T	0.003953	0.03423	T	-0.602758	0.00140	T	-0.799049	0.01926	T	0.0297089204965355	0.01945	T	0.0123321	0.00111	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.246	0.48827	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.464652	0.01982	0.173	0.27383360219759167	0.01357	0.00158	0.00946	N	AEFDBHCI	0.036166	0.04774	N	-2.07763132330582	0.00143	0.006134361	-2.16231796484525	0.00136	0.005972342	0.998419139002024	0.36924	0.645754	0.44609	0	0.696144	0.67643	0	0.578056	0.29568	0	0.564101	0.26826	0	.	.	2.25	-4.16	0.03606	-3.674000	0.00445	.	.	-1.333000	0.01212	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3566:0.2413:0.0:0.4021	2.666	0.04739	809	0.43032	Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|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	0	0	0	0	0	0	0	1	0	0	0	0.4762	75915.23	337	chr19	54633108	.	T	G,C	75915.23	.	AC=19,1;AF=0.452,0.024;AN=42;BaseQRankSum=1.38;DP=7609;ExcessHet=43.6797;FS=0.000;InbreedingCoeff=-0.9091;MLEAC=19,1;MLEAF=0.452,0.024;MQ=57.07;MQRankSum=-1.416e+01;QD=10.13;ReadPosRankSum=3.92;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,113,0:376:99:0|1:54633108_T_G:3953,0,10531,4745,10871,15616:54633108	1	0	19	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T	.	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	N	2.195	M	7.25	T	-0.797	T	0.003	T	0.159	-2.076	0.006	-0.836	-3.588	-0.374	0.314	0.067	0.000629482271791	.	.	1.26e-05	0	0	0	0	0	0	0.0002	0.0001153	3	26028	rs143258060	0.0001	0.0014	0.0001	0.0001	0.0003	0.0001	9.739e-05	0.0002	0.0002	0	0.0002	0	7.578e-05	0.0015	0.0002	4.598e-05	8.31e-05	0.0003	0.0003	0.0064	0.0002	0.0005	0.0007	0.0002	0.0002	0.0004	0.0003	9.821e-05	0	0.0007	0	0.0002	0.0010	0	0.0003	0	0.0004	0.0	0.91255	D	0.05	0.48080	T	0.039	0.21116	B	0.022	0.19653	B	.	.	.	.	1	0.08975	N	1.675	0.43121	L	7.25	0.00428	T	-2.83	0.59710	D	0.057	0.02861	-0.7967	0.55338	T	0.003	0.00929	T	9	0.04721421	0.04010	T	6.29E-4	0.00319	T	0.067	0.19503	0.275	0.22687	0.333906830038	0.33007	0.11003837353837338	0.10932	3.22852605899	0.99523	.	.	.	0.024485	0.18493	T	-0.40546	0.02131	T	-0.633654	0.10139	T	0.262085987067051	0.23406	T	.	.	.	0.08533072	0.19789	0.12122417	0.29249	0.08533072	0.19789	0.12122417	0.29248	-6.294	0.48674	T	.	.	0.091	0.13268	B	.	.	-0.337065	0.02459	0.283	0.40733743298301972	0.02894	0.00183	0.01069	N	AEFDGBI	0.020550	0.00823	N	-1.61360564278005	0.01198	0.05208234	-1.880969786367	0.00533	0.02366577	0.225960784001686	0.18410	0.487112	0.14033	0	0.563428	0.19063	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.418	-0.836	0.10225	-1.270000	0.02939	.	.	-4.224000	0.00037	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3954:0.2043:0.1975:0.2028	0.314	0.00272	964	0.07719	.	.	.	.	.	.	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	1	0	0	0	0.4	11817.48	33	chr19	54739533	.	C	A	11817.48	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.378e+00;DP=7438;ExcessHet=20.9642;FS=1.551;InbreedingCoeff=-0.6399;MLEAC=16;MLEAF=0.400;MQ=55.59;MQRankSum=1.01;QD=1.92;ReadPosRankSum=1.26;SOR=0.542	GT:AD:DP:GQ:PL	0/1:359,42:401:63:63,0,10211	4	0	16	1
chr19	54742019	54742019	C	T	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon3:c.C110T:p.P37L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.181	B	0.069	B	.	.	1.000	N	2.52	M	5.76	T	-1.016	T	0.017	T	0.347	0.259	5.400	0.507	0.253	1.801	5.886	0.076	0.00102173653182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.394e-07	7.092e-07	0	1.485e-06	2.396e-05	0	0	.	.	0	2.396e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.01	0.65728	D	0.181	0.29111	B	0.041	0.23986	B	.	.	.	.	1	0.08975	N	2.56	0.74772	M	3.95	0.03382	T	-6.54	0.91786	D	0.223	0.25006	-1.0164	0.24884	T	0.017	0.06807	T	9	0.12389034	0.23525	T	0.001022	0.01120	T	0.076	0.22200	0.37	0.38013	0.335164054921	0.33125	0.19209035572317168	0.19127	1.791941562	0.91524	.	.	.	0.020233	0.15966	T	-0.175002	0.24481	T	-0.489154	0.23479	T	0.20912588440861	0.20907	T	.	.	.	0.17275815	0.37985	0.1681736	0.38757	0.17275815	0.37985	0.1681736	0.38756	-8.822	0.66544	D	.	.	0.125	0.26514	B	.	.	1.590162	0.20337	14.70	0.57320471306848364	0.05743	0.01560	0.05104	N	AEFI	0.030433	0.03063	N	-1.06537834965913	0.07289	0.338164	-1.21954413589658	0.05596	0.2670848	1.74798417143001E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.6	0.507	0.16168	1.859000	0.39058	.	.	0.303000	0.18983	0.004000	0.16614	0.000000	0.08366	0.003000	0.05239	0.0:0.6648:0.3352:0.0	5.886	0.18127	964	0.07719	Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	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	0.3571	38391.65	39	chr19	54742019	.	C	G,T	38391.65	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-4.248e+00;DP=5023;ExcessHet=10.5502;FS=2.011;InbreedingCoeff=-0.4135;MLEAC=15,1;MLEAF=0.357,0.024;MQ=49.81;MQRankSum=0.016;QD=8.38;ReadPosRankSum=0.547;SOR=0.509	GT:AD:DP:GQ:PL	0/1:200,120,0:320:99:2833,0,6203,3434,6563,9997	6	0	14	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.953	D	.	.	1.000	N	1.66	L	7.17	T	-0.907	T	0.003	T	0.251	0.161	4.868	-1.94	-0.713	0.615	4.008	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	21150.31	340	chr19	54752378	.	A	T	21150.31	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-3.320e+00;DP=5262;ExcessHet=5.2939;FS=0.000;InbreedingCoeff=-0.2512;MLEAC=17;MLEAF=0.425;MQ=55.87;MQRankSum=-1.639e+01;QD=5.39;ReadPosRankSum=2.32;SOR=0.699	GT:AD:DP:GQ:PL	0/1:195,76:271:99:1406,0,5772	6	2	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.073	B	.	.	1.000	N	1.885	L	7.21	T	-0.958	T	0.001	T	0.079	-0.731	0.875	-2.12	-2.428	-1.068	4.380	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	.	.	.	.	.	.	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	1	0	0	0	0.4	28617.15	340	chr19	54752434	.	G	C	28617.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-1.210e+00;DP=6144;ExcessHet=5.2939;FS=7.479;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.79;MQRankSum=-1.832e+01;QD=6.00;ReadPosRankSum=1.58;SOR=1.014	GT:AD:DP:GQ:PL	0/1:283,72:355:99:1863,0,7954	6	2	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.006	B	0.003	B	.	.	1.000	N	1.1	L	7.14	T	-0.946	T	0.001	T	0.168	-0.325	2.456	-1.82	-2.219	0.300	4.091	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	33791.15	340	chr19	54752445	.	C	T	33791.15	.	AC=16;AF=0.400;AN=40;BaseQRankSum=-2.020e-01;DP=6238;ExcessHet=5.2939;FS=10.711;InbreedingCoeff=-0.2500;MLEAC=17;MLEAF=0.425;MQ=56.95;MQRankSum=-1.853e+01;QD=6.90;ReadPosRankSum=-2.400e-01;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:294,73:367:99:0|1:54752445_C_T:2180,0,12088:54752445	6	2	12	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.004	B	.	.	1.000	N	0.74	N	7.07	T	-0.942	T	0.001	T	0.034	-1.003	0.256	-0.268	-0.552	-0.743	3.096	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	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.375	17127.06	73	chr19	54752485	.	T	C	17127.06	.	AC=15;AF=0.375;AN=40;BaseQRankSum=1.81;DP=4524;ExcessHet=3.6553;FS=28.218;InbreedingCoeff=-0.1733;MLEAC=16;MLEAF=0.400;MQ=57.11;MQRankSum=-1.853e+01;QD=4.19;ReadPosRankSum=-2.676e+00;SOR=2.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:319,54:373:99:0|1:54752482_T_C:1307,0,13142:54752482	7	2	11	1
chr19	54752511	54752511	G	A	exonic	KIR2DL3	.	nonsynonymous SNV	KIR2DL3:NM_015868:exon8:c.G1018A:p.E340K,	.	.	471	887	74	90	0	254	0.125247	.	.	2330855	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.927	P	0.801	P	.	.	1.000	N	1.7	L	7.23	T	-0.964	T	0.002	T	0.108	-0.217	2.948	-1.82	-2.079	-1.122	6.337	0.023	0.00058277682123	.	.	.	.	.	.	.	.	.	.	.	.	.	rs878939548	6.015e-06	0.0002	4.476e-06	7.577e-06	2.785e-05	2.59e-06	1.87e-06	4.62e-06	1.73e-06	0	0	0	0	3.975e-05	0	3.938e-06	0	2.785e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.169	0.22920	T	0.141	0.33442	T	0.014	0.16867	B	0.053	0.25678	B	.	.	.	.	1	0.08975	N	1.56	0.39490	L	7.23	0.00430	T	-1.59	0.38345	N	0.036	0.01068	-0.9636	0.38488	T	0.002	0.00707	T	9	0.048668027	0.04349	T	5.83E-4	0.00246	T	0.023	0.04649	0.359	0.36222	0.201204373187	0.19734	0.14158577538071196	0.14081	0.485544564949	0.47430	.	.	.	0.006937	0.06364	T	-0.364647	0.03874	T	-0.761566	0.03056	T	0.472253292798996	0.31613	T	.	.	.	0.035863034	0.04304	0.048440736	0.07194	0.035863034	0.04303	0.048440736	0.07193	-4.19	0.26607	T	.	.	0.087	0.11317	B	.	.	-0.236831	0.02908	0.420	0.60687808817287325	0.06524	0.00049	0.00384	N	AEFI	0.023028	0.01229	N	-1.55887154151576	0.01484	0.06475221	-1.76960007506711	0.00862	0.03850489	6.95773214814763E-5	0.04366	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	-1.609000	0.02169	.	.	-1.067000	0.01603	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5547:0.0:0.4453:0.0	6.337	0.20509	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.275	5860.81	73	chr19	54752511	.	G	A	5860.81	.	AC=11;AF=0.275;AN=40;BaseQRankSum=4.75;DP=3070;ExcessHet=0.4926;FS=36.779;InbreedingCoeff=0.1222;MLEAC=11;MLEAF=0.275;MQ=57.65;MQRankSum=-1.666e+01;QD=2.73;ReadPosRankSum=-1.190e-01;SOR=4.105	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,34:343:99:0|1:54752511_G_A:498,0,12753:54752511	11	2	7	1
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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	10320.24	37	chr19	54760643	.	A	G	10320.24	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.066e+00;DP=4116;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4489;MLEAC=13;MLEAF=0.310;MQ=53.53;MQRankSum=-6.940e+00;QD=3.09;ReadPosRankSum=-1.857e+00;SOR=0.586	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:142,30:172:99:0|1:54760643_A_G:819,0,5685:54760643	8	0	13	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3095	11917.16	37	chr19	54760651	.	G	C	11917.16	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.207e+00;DP=4125;ExcessHet=11.8493;FS=0.785;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=54.02;MQRankSum=-7.539e+00;QD=3.52;ReadPosRankSum=-5.850e-01;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:137,33:170:99:0|1:54760643_A_G:904,0,5546:54760643	8	0	13	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	14816.48	37	chr19	54760665	.	T	C	14816.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.128e+00;DP=4120;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=54.82;MQRankSum=-8.959e+00;QD=3.99;ReadPosRankSum=1.59;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,35:163:99:0|1:54760665_T_C:1081,0,5237:54760665	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15285.48	37	chr19	54760676	.	T	A	15285.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.658e+00;DP=4024;ExcessHet=14.4320;FS=0.732;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=55.58;MQRankSum=-9.713e+00;QD=4.21;ReadPosRankSum=2.84;SOR=0.642	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:125,35:160:99:0|1:54760665_T_C:1090,0,5114:54760665	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15714.52	37	chr19	54760692	.	A	G	15714.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.369e+00;DP=3836;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.22;MQRankSum=-1.158e+01;QD=4.47;ReadPosRankSum=4.04;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,35:155:99:0|1:54760692_A_G:1108,0,4926:54760692	7	0	14	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	15927.52	37	chr19	54760695	.	T	C	15927.52	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.378e+00;DP=3798;ExcessHet=14.4320;FS=0.728;InbreedingCoeff=-0.5003;MLEAC=14;MLEAF=0.333;MQ=56.26;MQRankSum=-1.138e+01;QD=4.62;ReadPosRankSum=4.12;SOR=0.596	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:119,35:154:99:0|1:54760692_A_G:1111,0,4887:54760692	7	0	14	0
chr19	54769866	54769866	G	A	exonic	KIR2DL1;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon1:c.G16A:p.V6I	.	.	423	1018	81	0	0	81	0.0382617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.013	B	0.009	B	.	.	1.000	N	0.72	N	7.18	T	-0.961	T	0.001	T	0.161	-0.160	3.220	-1.03	-0.402	-0.324	.	0.017	0.0082991101408	.	.	4.241e-05	0.0002	8.884e-05	0	0	3.095e-05	0	0	0.0005692	88	154602	rs375195215	0.0002	0.0019	0.0002	0.0003	0.0009	0.0002	0.0002	0.0007	0.0006	0.0006	0.0009	0.0007	2.545e-05	0.0004	0.0002	0.0002	0.0002	0.0004	0.0005	0.0063	0.0005	0.0005	0.0011	0.0004	0.0004	0.0008	0.0007	0.0011	0	0.0004	0	0	0.0005	0	0.0003	0	0.0010	0.112	0.30235	T	0.681	0.10245	T	0.013	0.16609	B	0.009	0.14300	B	.	.	.	.	0.999974	0.81001	N	.	.	.	7.18	0.00438	T	-0.52	0.16393	N	0.078	0.05287	-0.9611	0.38974	T	0.001	0.00287	T	8	0.042778373	0.03059	T	0.008299	0.21979	T	0.017	0.02790	.	.	0.163833314356	0.15978	0.07523266231580931	0.07459	0.258293071172	0.28385	0.446146994829	0.31418	T	0.011846	0.10509	T	-0.454054	0.01069	T	-0.653325	0.08723	T	0.0061362524239717	0.00068	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.15564	B	.;.	.;.	0.228841	0.06102	2.548	0.76514937681009665	0.11499	0.00123	0.00769	N	AEFBI	0.020265	0.00784	N	-1.40368950837253	0.02606	0.1153194	-1.52506351735761	0.02152	0.098572	2.19688426057424E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	0.514	-1.03	0.09586	0.333000	0.19512	.	.	-1.352000	0.01191	0.021000	0.19753	0.000000	0.08366	0.002000	0.04165	.	.	.	976	0.04745	.;.	.	.	.	.	.	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	1	0	0	0	0.1053	440.06	36	chr19	54769866	.	G	A	440.06	.	AC=4;AF=0.105;AN=38;BaseQRankSum=4.52;DP=3805;ExcessHet=0.6776;FS=4.677;InbreedingCoeff=-0.1398;MLEAC=4;MLEAF=0.105;MQ=57.10;MQRankSum=-7.783e+00;QD=0.54;ReadPosRankSum=-2.840e+00;SOR=1.382	GT:AD:DP:GQ:PL	0/1:163,21:184:99:190,0,6335	15	0	4	2
chr19	54773464	54773464	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.G202C:p.D68H	.	.	425	856	241	0	0	241	0.1234	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.444	B	0.198	B	.	.	1.000	N	1.695	L	2.03	T	-1.006	T	0.041	T	0.396	0.186	5.000	-1.93	-0.374	-0.063	2.604	0.038	0.000804883088689	.	.	.	.	.	.	.	.	.	.	.	.	.	rs745536485	6.26e-06	0.0002	5.539e-06	6.987e-06	2.264e-05	2.95e-06	2.13e-06	3.15e-06	2.28e-06	0	2.264e-05	0	0	0	0	7.325e-06	0	0	0.0001	0.0024	0.0001	0.0001	0.0004	7.39e-05	6.091e-05	8.225e-05	5.802e-05	0.0002	0	0.0002	0	0	0	0	7.634e-05	0	0.0004	0.064	0.38407	T	0.247	0.23914	T	0.444	0.35956	B	0.198	0.36766	B	.	.	.	.	1	0.08975	N	.	.	.	2.03	0.20959	T	-2.52	0.54702	D	0.188	0.25130	-1.0056	0.28277	T	0.041	0.17657	T	9	0.1068652	0.19824	T	8.05E-4	0.00629	T	0.038	0.09825	0.276	0.22845	0.283761946502	0.27984	0.08192545392014942	0.08127	0.476618817085	0.46789	0.428809553385	0.29046	T	0.010046	0.09105	T	-0.210968	0.19242	T	-0.540818	0.18217	T	0.0742162314790902	0.09230	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.29833	B	.;.	.;.	0.494158	0.08635	5.403	0.86631705629094091	0.16667	0.00709	0.03002	N	AEFDBI	0.050506	0.08834	N	-0.947669841844548	0.09745	0.4625647	-1.15399594513377	0.06696	0.3231991	1.94292267281438E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	-1.93	0.07180	-0.459000	0.06805	.	.	-0.401000	0.05297	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2328:0.3114:0.4559:0.0	2.604	0.04579	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	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	0.2143	14619.01	48	chr19	54773464	.	G	C	14619.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=4.28;DP=7976;ExcessHet=4.7172;FS=6.777;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.69;MQRankSum=-1.747e+01;QD=2.88;ReadPosRankSum=-1.077e+00;SOR=1.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,85:503:99:0|1:54773456_T_C:2214,0,16811:54773456	12	0	9	0
chr19	54773510	54773510	C	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon3:c.C248G:p.A83G	.	.	428	768	326	0	0	326	0.175081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.1	B	0.33	B	.	.	1.000	N	2.97	M	2.06	T	-0.864	T	0.092	T	0.345	0.514	6.788	0.116	0.106	0.120	3.815	0.067	0.00119558056772	.	.	.	.	.	.	.	.	.	.	.	.	.	rs530076007	0.0001	0.0040	0.0002	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0005	0.0002	0	2.556e-05	1.91e-05	0	0.0002	0.0001	0.0001	4.77e-05	0.0026	2.662e-05	6.981e-05	0.0002	2.18e-05	1.572e-05	1.992e-05	1.052e-05	7.514e-05	0	0	0	0.0002	0	0	4.565e-05	0	0	0.053	0.40832	T	0.104	0.38160	T	0.1	0.25713	B	0.33	0.42079	B	.	.	.	.	1	0.08975	N	.	.	.	2.06	0.20523	T	-2.38	0.52451	N	0.208	0.23758	-0.8637	0.50995	T	0.092	0.35119	T	9	0.13614216	0.25903	T	0.001196	0.01533	T	0.067	0.19503	0.605	0.73706	0.405150804464	0.40131	0.04592118071307132	0.04536	0.346524564405	0.36559	0.357214689255	0.18980	T	0.045691	0.27199	T	-0.175925	0.24344	T	-0.490481	0.23340	T	0.2225591391325	0.21591	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.138	0.32922	B	.;.	.;.	1.122996	0.15092	11.58	0.93936832440862883	0.23989	0.00979	0.03733	N	AEFDBI	0.047211	0.07926	N	-0.935946201820849	0.10011	0.4763772	-1.14448522620441	0.06868	0.3320446	1.159795150757E-5	0.02871	0.500041	0.20204	0	0.563428	0.19063	0	0.547309	0.15389	0	0.503917	0.08554	0	.	.	1.24	0.116	0.13953	0.259000	0.18174	.	.	-0.444000	0.05162	0.004000	0.16614	0.000000	0.08366	0.001000	0.02609	0.0:0.7435:0.0:0.2565	3.815	0.08327	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	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	0.2143	25978.01	48	chr19	54773510	.	C	G	25978.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.190e+00;DP=8922;ExcessHet=4.7172;FS=3.446;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.57;MQRankSum=-2.189e+01;QD=4.42;ReadPosRankSum=1.88;SOR=1.040	GT:AD:DP:GQ:PL	0/1:432,131:563:99:3246,0,12373	12	0	9	0
chr19	54804874	54804874	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A158C:p.Y53S	.	.	418	512	448	92	52	684	0.381643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.009	B	0.008	B	.	.	1.000	N	-1.815	N	2.81	T	-0.959	T	0.005	T	0.163	-2.574	0.003	-2.83	-0.824	-0.505	4.673	0.064	0.00123731148339	.	.	.	.	.	.	.	.	.	.	.	.	.	rs618835	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.03314	T	0.009	0.15093	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-2.005	0.00192	N	2.81	0.10975	T	-0.12	0.17003	N	0.094	0.07398	-0.9592	0.39330	T	0.005	0.01688	T	9	0.038850784	0.02333	T	0.001237	0.01658	T	0.064	0.18567	.	.	0.0934897674506	0.08844	0.30959537037651635	0.30872	2.03392677507	0.94150	.	.	.	.	.	.	-0.349958	0.04730	T	-0.740467	0.03871	T	0.0372104795728204	0.03193	T	.	.	.	.	.	.	.	.	.	.	.	-4.582	0.31945	T	.	.	0.096	0.15385	B	.;.;.;.	.;.;.;.	-1.038539	0.00718	0.021	0.36897408776256096	0.02400	0.00044	0.00357	N	AEFDBI	0.024914	0.01621	N	-2.04652454016145	0.00168	0.00718835	-2.03550390589525	0.00257	0.01134907	6.47260531587824E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.100000	0.03450	.	.	-3.205000	0.00110	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2532:0.5344:0.2124:0.0	4.673	0.12084	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	0.3333	33079.42	37	chr19	54804874	.	A	G,C	33079.42	.	AC=12,3;AF=0.286,0.071;AN=42;BaseQRankSum=1.71;DP=3078;ExcessHet=3.1640;FS=0.523;InbreedingCoeff=-0.1340;MLEAC=12,3;MLEAF=0.286,0.071;MQ=59.39;MQRankSum=-3.020e+00;QD=12.12;ReadPosRankSum=0.071;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,180,2:182:99:.:.:5737,539,0,6063,473,8235	8	1	9	0
chr19	54805024	54805024	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A308G:p.H103R	.	.	423	744	354	1	0	356	0.193059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.025	B	0.014	B	0.900	U	1.000	N	1.445	L	5.78	T	-0.926	T	0.003	T	0.132	0.330	5.790	-0.942	-0.378	-0.780	4.279	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;.;.	.	.	.	.	.	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	0.2381	10370.19	37	chr19	54805024	.	A	G	10370.19	.	AC=10;AF=0.238;AN=42;BaseQRankSum=-4.070e-01;DP=4027;ExcessHet=6.1002;FS=3.749;InbreedingCoeff=-0.2989;MLEAC=9;MLEAF=0.214;MQ=59.11;MQRankSum=-1.124e+01;QD=3.60;ReadPosRankSum=0.390;SOR=1.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:250,18:268:3:0|1:54805024_A_G:3,0,10443:54805024	11	0	10	0
chr19	54805033	54805033	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C317T:p.T106I	.	.	424	690	407	1	0	409	0.228619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.004	B	0.005	B	0.591	U	1.000	N	1.77	L	2.55	T	-0.987	T	0.033	T	0.099	-0.227	2.901	-2.28	-1.442	-2.050	6.335	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;.;.	.	.	.	.	.	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	0.2857	11569.11	37	chr19	54805033	.	C	T	11569.11	.	AC=12;AF=0.286;AN=42;BaseQRankSum=-2.870e-01;DP=4523;ExcessHet=9.6308;FS=5.420;InbreedingCoeff=-0.4114;MLEAC=12;MLEAF=0.286;MQ=59.15;MQRankSum=-1.246e+01;QD=3.36;ReadPosRankSum=-4.370e-01;SOR=1.113	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:244,19:263:63:0|1:54805024_A_G:63,0,10174:54805024	9	0	12	0
chr19	54805068	54805068	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A352G:p.M118V	.	.	425	605	491	1	0	493	0.289489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.011	B	0.009	B	0.168	N	1.000	N	0.08	N	2.74	T	-1.017	T	0.015	T	0.072	-2.393	0.003	-0.275	-0.112	-0.220	3.173	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;.;.	.	.	.	.	.	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	0.3421	12807.67	37	chr19	54805068	.	A	G	12807.67	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.640e+00;DP=4275;ExcessHet=11.8493;FS=4.752;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.368;MQ=58.95;MQRankSum=-1.149e+01;QD=3.70;ReadPosRankSum=0.620;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:203,27:230:99:.:.:405,0,5801	6	0	13	2
chr19	54805957	54805957	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A368T:p.Y123F	.	.	425	734	362	1	0	364	0.19869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.198	B	0.327	B	.	.	1.000	N	2.125	M	5.76	T	-0.946	T	0.005	T	0.221	0.808	8.245	-0.172	-0.120	0.024	3.728	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	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	9084.15	108	chr19	54805957	.	A	T	9084.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.15;DP=4262;ExcessHet=11.8493;FS=0.848;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.77;MQRankSum=-1.667e+01;QD=2.69;ReadPosRankSum=1.69;SOR=0.888	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:238,43:281:99:0|1:54805940_TCTC_T:1089,0,9864:54805940	8	0	13	0
chr19	54805960	54805960	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A371G:p.E124G	.	.	423	736	362	1	0	364	0.198257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.007	B	0.006	B	.	.	1.000	N	0.675	N	5.81	T	-0.937	T	0.002	T	0.192	0.190	5.025	-1.55	-0.654	-0.494	4.324	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	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	9747.15	108	chr19	54805960	.	A	G	9747.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.407;DP=4341;ExcessHet=11.8493;FS=1.800;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.74;MQRankSum=-1.688e+01;QD=2.82;ReadPosRankSum=1.56;SOR=0.860	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:245,43:288:99:0|1:54805940_TCTC_T:1068,0,10158:54805940	8	0	13	0
chr19	54805974	54805974	A	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A385T:p.T129S	.	.	422	677	422	1	0	424	0.23847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.001	B	0.001	N	1.000	N	-2.79	N	2.73	T	-0.875	T	0.006	T	0.022	-2.303	0.004	-0.047	-0.086	0.239	3.134	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	.;.;.;.;.;.	.	.	.	.	.	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	0.3095	15353.15	108	chr19	54805974	.	A	T	15353.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=5.50;DP=4725;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.65;MQRankSum=-1.628e+01;QD=4.01;ReadPosRankSum=0.664;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:272,50:322:99:0|1:54805940_TCTC_T:1281,0,11271:54805940	8	0	13	0
chr19	54805981	54805981	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G392A:p.R131Q	.	.	421	659	441	1	0	443	0.251562	.	.	3452252	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.02	B	0.001	B	0.465	N	1.000	N	-2.62	N	2.75	T	-0.952	T	0.004	T	0.043	-2.074	0.006	-1.94	-0.822	-1.007	1.446	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	.	.	.	.	.	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	0.3095	19196.15	108	chr19	54805981	.	G	A	19196.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=2.63;DP=5055;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.67;MQRankSum=-1.608e+01;QD=4.63;ReadPosRankSum=-2.990e-01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:289,58:347:99:0|1:54805940_TCTC_T:1545,0,11918:54805940	8	0	13	0
chr19	54806034	54806034	C	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C445A:p.Q149K	.	.	416	603	500	3	0	506	0.295561	.	.	2327274	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.077	B	0.073	B	0.219	U	1.000	N	2.025	M	2.69	T	-1.014	T	0.041	T	0.15	-0.307	2.540	-2.07	-1.920	-1.601	4.213	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	.	.	.	.	.	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	0.3	25116.68	292	chr19	54806034	.	C	A	25116.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.535e+00;DP=7277;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.67;MQRankSum=-1.709e+01;QD=5.20;ReadPosRankSum=1.71;SOR=0.499	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:373,70:443:99:0|1:54806034_C_A:1800,0,15330:54806034	8	0	12	1
chr19	54806035	54806035	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A446G:p.Q149R	.	.	417	602	500	3	0	506	0.295906	.	.	2338656	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.004	B	0.02	B	0.219	N	1.000	N	-0.195	N	2.67	T	-0.982	T	0.015	T	0.086	-2.553	0.003	-1.76	-1.632	0.104	6.415	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	.	.	.	.	.	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	25188.68	292	chr19	54806035	.	A	G	25188.68	.	AC=12;AF=0.300;AN=40;BaseQRankSum=-1.795e+00;DP=7269;ExcessHet=9.6308;FS=2.369;InbreedingCoeff=-0.4237;MLEAC=12;MLEAF=0.300;MQ=57.69;MQRankSum=-1.721e+01;QD=5.19;ReadPosRankSum=1.92;SOR=0.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,70:445:99:0|1:54806034_C_A:1794,0,15414:54806034	8	0	12	1
chr19	54806051	54806051	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C462G:p.I154M	.	.	413	617	488	4	0	496	0.286705	.	.	2309998	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.022	B	0.06	B	0.022	N	1.000	N	-0.28	N	2.71	T	-0.951	T	0.016	T	0.09	-4.753	0.001	-2.09	-4.463	-0.751	4.6	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	.	.	.	.	.	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	0.3158	22542.15	292	chr19	54806051	.	C	G	22542.15	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.004e+00;DP=7737;ExcessHet=9.6308;FS=2.445;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.342;MQ=57.95;MQRankSum=-1.708e+01;QD=4.53;ReadPosRankSum=3.86;SOR=0.635	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,66:449:99:0|1:54806034_C_A:1618,0,15883:54806034	7	0	12	2
chr19	54806073	54806074	GA	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770: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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3095	24607.11	292	chr19	54806072	.	GGA	G	24607.11	.	AC=13;AF=0.310;AN=42;BaseQRankSum=0.628;DP=7660;ExcessHet=11.8493;FS=3.525;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=57.97;MQRankSum=-1.728e+01;QD=4.45;ReadPosRankSum=2.39;SOR=0.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:399,61:460:99:0|1:54806034_C_A:1360,0,16570:54806034	8	0	13	0
chr19	54806075	54806075	-	GG	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon4:c.486_487insGG:p.A163Gfs*78	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	28945.47	292	chr19	54806075	.	A	AGG	28945.47	.	AC=14;AF=0.350;AN=40;BaseQRankSum=-5.960e-01;DP=7796;ExcessHet=14.4320;FS=3.507;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=57.86;MQRankSum=-1.730e+01;QD=4.78;ReadPosRankSum=2.42;SOR=0.985	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:395,60:455:99:0|1:54806034_C_A:1330,0,16405:54806034	6	0	14	1
chr19	54806086	54806086	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T497C:p.L166P	.	.	417	638	464	3	0	470	0.269187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.024	B	0.044	B	.	.	1.000	N	0.83	L	5.72	T	-0.892	T	0.002	T	0.193	-1.464	0.019	-1.46	-2.181	-4.220	0.244	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	.	.	.	.	.	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	0.3571	29384.38	292	chr19	54806086	.	T	C	29384.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.199e+00;DP=7767;ExcessHet=17.4423;FS=4.575;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.83;MQRankSum=-1.735e+01;QD=4.51;ReadPosRankSum=0.065;SOR=1.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:393,56:449:99:0|1:54806034_C_A:1168,0,16333:54806034	6	0	15	0
chr19	54806109	54806109	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A520G:p.I174V	.	.	416	679	424	3	0	430	0.240492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.000	N	1.000	N	-1.53	N	2.72	T	-0.970	T	0.008	T	0.063	-3.538	0.001	-0.854	-3.514	-0.448	.	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	.	.	.	.	.	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	0.3571	24913.38	292	chr19	54806109	.	A	G	24913.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-1.236e+00;DP=7520;ExcessHet=17.4423;FS=7.542;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=58.03;MQRankSum=-1.656e+01;QD=3.98;ReadPosRankSum=-3.141e+00;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:383,49:432:99:0|1:54806034_C_A:905,0,15935:54806034	6	0	15	0
chr19	54808838	54808838	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.C661T:p.P221S	.	.	424	736	361	1	0	363	0.19782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.006	B	0.003	B	0.046	U	1.000	N	0.13	N	7.15	T	-0.925	T	0.001	T	0.11	-1.679	0.012	-1.7	-1.068	-0.084	2.159	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	25713.48	41	chr19	54808838	.	C	T	25713.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=3.86;DP=5771;ExcessHet=14.4320;FS=0.714;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.82;MQRankSum=-1.875e+01;QD=4.71;ReadPosRankSum=0.460;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:352,52:404:99:0|1:54808838_C_T:1124,0,14461:54808838	7	0	14	0
chr19	54808851	54808852	GG	-	exonic	KIR2DL4;LOC112268354	.	frameshift deletion	KIR2DL4:NM_001080770:exon5:c.674_675del:p.W225Sfs*5	.	.	420	753	348	1	0	350	0.188578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28348.44	41	chr19	54808850	.	TGG	T	28348.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.40;DP=6077;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=4.95;ReadPosRankSum=0.095;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:366,49:415:99:0|1:54808838_C_T:956,0,15192:54808838	7	0	14	0
chr19	54808853	54808853	-	AT	exonic	KIR2DL4;LOC112268354	.	frameshift insertion	KIR2DL4:NM_001080770:exon5:c.676_677insAT:p.P226Hfs*15	.	.	419	755	347	1	0	349	0.187735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	28654.44	41	chr19	54808853	.	C	CAT	28654.44	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.62;DP=6070;ExcessHet=14.4320;FS=0.703;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=57.95;MQRankSum=-1.810e+01;QD=5.01;ReadPosRankSum=-1.110e-01;SOR=0.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:360,49:409:99:0|1:54808838_C_T:974,0,14940:54808838	7	0	14	0
chr19	54808875	54808875	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon5:c.T698C:p.F233S	.	.	419	767	335	1	0	337	0.180118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.002	B	0.491	U	1.000	N	-1.24	N	7.38	T	-0.982	T	0.000	T	0.081	-2.864	0	-1.7	-0.659	-3.350	3.991	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	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	29056.48	41	chr19	54808875	.	T	C	29056.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=0.156;DP=6159;ExcessHet=14.4320;FS=1.502;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.16;MQRankSum=-1.759e+01;QD=5.05;ReadPosRankSum=-6.680e-01;SOR=0.766	GT:AD:DP:GQ:PL	0/1:361,46:407:99:850,0,9674	7	0	14	0
chr19	54830166	54830166	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1226C:p.R409T	.	.	489	977	43	13	0	69	0.0341078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.017	B	0.016	B	.	.	1.000	N	1.91	M	7.22	T	-0.957	T	0.001	T	0.113	-0.230	2.891	-1.44	-0.785	-0.866	.	0.014	0.00280289760826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1402897436	0	6.612e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.13e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.63226	T	0.404	0.21545	T	0.008	0.14655	B	0.016	0.17743	B	.	.	.	.	1	0.08975	N	2.205	0.62170	M	7.22	0.00442	T	-2.14	0.48523	N	0.155	0.19861	-0.9566	0.39807	T	0.001	0.00438	T	8	0.05749756	0.06613	T	0.002803	0.05840	T	0.014	0.01968	0.257	0.19845	0.0611884634855	0.05136	0.14103244144494176	0.14026	0.341241828603	0.36058	.	.	.	0.005761	0.05208	T	-0.327897	0.06272	T	-0.708778	0.05358	T	0.0654255235430696	0.07993	T	.	.	.	0.077683635	0.17647	0.09936527	0.23722	0.077683635	0.17647	0.09936527	0.23722	-8.799	0.66394	D	.	.	0.112	0.22573	B	.;.;.	.;.;.	-0.127859	0.03478	0.649	0.55859222650876794	0.05430	0.00622	0.02746	N	AEFBI	0.041929	0.06440	N	-1.14611797788255	0.05843	0.2674817	-1.32606166375958	0.04096	0.1925055	3.25109135686022E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.719	-1.44	0.08391	-0.857000	0.04394	.	.	0.254000	0.18348	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	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	0.15	3117.3	35	chr19	54830166	.	G	C	3117.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-4.161e+00;DP=4417;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.67;MQRankSum=-1.789e+01;QD=1.56;ReadPosRankSum=-1.700e-02;SOR=0.650	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,27:322:99:0|1:54830166_G_C:246,0,12306:54830166	14	0	6	1
chr19	54830177	54830177	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1237T:p.R413C	.	.	487	975	47	13	0	73	0.036085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.016	B	0.004	B	.	.	1.000	N	1.505	L	7.16	T	-0.972	T	0.001	T	0.117	-0.254	2.778	0.569	0.567	0.678	.	0.019	0.00205586965996	.	0.000199681	2.628e-05	0.0002	9.156e-05	0	0	0	0	0	3.84e-05	1	26028	rs573252093	1.446e-05	8.441e-05	1.723e-05	1.165e-05	0.0002	9.44e-06	7.68e-06	4.146e-05	2.416e-05	0.0001	9.576e-05	0	0	0	0.0002	7.555e-06	1.754e-05	2.641e-05	4.289e-05	0.0001	5.533e-05	2.959e-05	0.0002	1.84e-05	1.211e-05	6.588e-05	4.499e-05	0.0002	0	0	0	0	0	0	0	0	0	0.116	0.49117	T	0.123	0.35970	T	0.004	0.12183	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.61	0.41143	L	7.15	0.00445	T	-2.1	0.47852	N	0.103	0.14196	-0.9722	0.36734	T	0.001	0.00408	T	8	0.05926463	0.07096	T	0.002056	0.03748	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.14280557230036842	0.14203	0.306309179821	0.32927	.	.	.	0.004918	0.04343	T	-0.530801	0.00380	T	-0.694259	0.06145	T	0.0218732288632759	0.00894	T	.	.	.	0.11626438	0.27425	0.10402554	0.24975	0.11626438	0.27425	0.10402554	0.24975	-8.101	0.62445	D	.	.	0.106	0.21541	B	.;.;.	.;.;.	1.217707	0.16111	12.33	0.46755602533799501	0.03769	0.01115	0.04074	N	AEFBI	0.054109	0.09809	N	-1.01848295800702	0.08221	0.384663	-1.15555151539374	0.06668	0.3217553	2.10729526415108E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	0.650000	0.24544	.	.	0.228000	0.18124	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3228.3	35	chr19	54830177	.	C	T	3228.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.737e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.794e+01;QD=1.57;ReadPosRankSum=1.91;SOR=0.649	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:295,29:324:99:0|1:54830166_G_C:330,0,12300:54830166	14	0	6	1
chr19	54830178	54830178	G	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.G1238C:p.R413P	.	.	488	973	48	13	0	74	0.0366337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.003	B	.	.	1.000	N	0.605	N	7.24	T	-0.908	T	0.001	T	0.094	-2.412	0.003	-1.14	-1.579	-0.469	.	0.016	0.00338705456639	.	.	.	.	.	.	.	.	.	.	.	.	.	rs984592565	2.892e-06	0.0003	0	5.825e-06	1.321e-05	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	0	1.321e-05	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.075	0.38407	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	0.215	0.09537	N	7.23	0.00430	T	-0.45	0.24676	N	0.05	0.04072	-0.9082	0.47073	T	0.001	0.00255	T	8	0.05937442	0.07126	T	0.003387	0.07603	T	0.016	0.02506	0.366	0.37361	0.0401082797425	0.02173	0.09140339593159023	0.09073	0.323214894628	0.34489	.	.	.	0.001071	0.00595	T	-0.371148	0.03536	T	-0.770905	0.02738	T	0.0905973222850487	0.11288	T	.	.	.	0.09353458	0.21971	0.14968953	0.35334	0.09353458	0.21970	0.14968953	0.35333	-5.275	0.49736	T	.	.	0.093	0.14797	B	.;.;.	.;.;.	-0.439146	0.02071	0.191	0.43628759508592302	0.03298	0.00008	0.00134	N	AEFBI	0.019406	0.00671	N	-1.59627941012569	0.01283	0.05585422	-1.71860603525739	0.01058	0.04746591	9.63160874456533E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.14	0.09241	-0.491000	0.06555	.	.	-0.821000	0.02958	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3252.3	35	chr19	54830178	.	G	C	3252.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.995e+00;DP=4479;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.62;MQRankSum=-1.808e+01;QD=1.58;ReadPosRankSum=2.10;SOR=0.637	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:300,29:329:99:0|1:54830166_G_C:315,0,12510:54830166	14	0	6	1
chr19	54830217	54830217	T	C	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1277C:p.I426T	.	.	490	959	60	13	0	86	0.0429142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.002	B	0.007	B	.	.	1.000	N	0.895	L	7.02	T	-0.948	T	0.001	T	0.085	-3.212	0.001	-0.727	-0.235	-0.860	.	0.031	0.00252436282351	.	.	.	.	.	.	.	.	.	.	.	.	.	rs199822561	1.447e-06	6.26e-05	1.437e-06	1.458e-06	1.89e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.89e-06	0	0	0	8.482e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.053	0.38863	T	0.707	0.18732	T	0.001	0.07471	B	0.007	0.12992	B	.	.	.	.	1	0.08975	N	1.51	0.38214	L	7.01	0.00465	T	1.33	0.01107	N	0.136	0.15469	-0.9482	0.41279	T	0.001	0.00378	T	8	0.053025752	0.05429	T	0.002524	0.05037	T	0.031	0.07369	0.329	0.31357	0.0138822411134	0.00435	0.05436384389562955	0.05378	0.2842650222	0.30852	.	.	.	0.00346	0.02869	T	-0.377913	0.03211	T	-0.780622	0.02435	T	0.109476455881908	0.13368	T	.	.	.	0.060243543	0.12340	0.12511967	0.30151	0.060243543	0.12340	0.12511967	0.30150	-2.004	0.06104	T	.	.	0.127	0.34160	B	.;.;.	.;.;.	-0.422644	0.02129	0.203	0.1578796069653349	0.00399	0.00213	0.01210	N	AEFBI	0.035053	0.04446	N	-1.5374920893244	0.01609	0.07032718	-1.65054767699224	0.01373	0.06202174	1.82473746354949E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-0.727	0.10603	-0.855000	0.04403	.	.	-2.187000	0.00360	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3351.3	35	chr19	54830217	.	T	C	3351.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.492e+00;DP=4457;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.63;MQRankSum=-1.828e+01;QD=1.65;ReadPosRankSum=4.76;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,29:336:99:0|1:54830166_G_C:294,0,12804:54830166	14	0	6	1
chr19	54830219	54830219	T	A	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.T1279A:p.L427M	.	.	490	958	61	13	0	87	0.0434348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.015	B	0.004	B	.	.	1.000	N	0.05	N	7.16	T	-0.949	T	0.001	T	0.116	-0.161	3.214	0.569	-0.221	-0.021	.	0.033	0.00220836784564	.	.	1.752e-05	0	0	0	0	3.156e-05	0	0	1.29e-05	2	154602	rs200821495	2.17e-06	0.0009	0	4.372e-06	9.449e-07	5.8e-07	1.6e-07	.	.	0	0	0	0	0	0	9.449e-07	3.512e-05	0	7.376e-06	0.0005	1.429e-05	0	1.625e-05	0	0	.	.	0	0	0	0	0	0	0	1.625e-05	0	0	0.036	0.43708	D	0.044	0.49942	D	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-0.55	0.02420	N	7.15	0.00440	T	0.02	0.07155	N	0.097	0.09066	-0.9488	0.41177	T	0.001	0.00255	T	8	0.059903473	0.07273	T	0.002208	0.04178	T	0.033	0.08068	0.343	0.33626	0.0611884634855	0.05136	0.06365489919836881	0.06304	0.217370059748	0.24259	.	.	.	0.001032	0.00564	T	-0.359885	0.04136	T	-0.754727	0.03305	T	0.0475029693969738	0.05054	T	.	.	.	0.12672478	0.29674	0.09114859	0.21413	0.12672478	0.29673	0.09114859	0.21413	-2.726	0.11147	T	.	.	0.087	0.11027	B	.;.;.	.;.;.	-0.079285	0.03768	0.787	0.57251924956472933	0.05728	0.00098	0.00638	N	AEFBI	0.020111	0.00761	N	-1.48858900803104	0.01930	0.08470691	-1.56128690325375	0.01899	0.08661785	1.77709840166136E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	0.569	0.16525	-0.346000	0.07809	.	.	-2.056000	0.00415	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3297.3	35	chr19	54830219	.	T	A	3297.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.982e+00;DP=4460;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.66;MQRankSum=-1.825e+01;QD=1.62;ReadPosRankSum=4.19;SOR=0.699	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:306,29:335:99:0|1:54830166_G_C:297,0,12762:54830166	14	0	6	1
chr19	54830226	54830226	C	T	exonic	KIR3DL1	.	nonsynonymous SNV	KIR3DL1:NM_001322168:exon9:c.C1286T:p.T429M	.	.	491	956	62	13	0	88	0.044	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.226	B	0.042	B	.	.	1.000	N	0.66	N	7.16	T	-0.970	T	0.001	T	0.116	-0.776	0.741	-1.01	-0.398	-1.561	.	0.003	0.00266394809513	7.9e-05	.	4.38e-05	0.0004	0	0	0	1.578e-05	0	0	7.12e-05	11	154602	rs72629105	2.892e-06	0.0008	1.435e-06	4.369e-06	2.833e-06	6.8e-07	4.6e-07	7.5e-07	2.1e-07	0	0	0	0	0	0	2.833e-06	1.754e-05	0	2.894e-05	0.0005	4.202e-05	1.496e-05	7.701e-05	9.76e-06	5.56e-06	2.041e-05	1.066e-05	7.701e-05	0	0	0	0	0	0	1.605e-05	0	0	0.054	0.52492	T	0.299	0.22359	T	0.122	0.26746	B	0.025	0.20508	B	.	.	.	.	1	0.08975	N	0.95	0.23787	L	7.16	0.00445	T	0.53	0.04022	N	0.061	0.03726	-0.9699	0.37220	T	0.001	0.00287	T	8	0.04146093	0.02803	T	0.002664	0.05434	T	0.003	0.00094	.	.	0.0482279557977	0.04254	0.1972985884992638	0.19646	0.240531653146	0.26595	.	.	.	0.001518	0.00960	T	-0.551009	0.00288	T	-0.749827	0.03492	T	0.0218708623688418	0.00894	T	.	.	.	0.024346609	0.01257	0.069218	0.14554	0.024346609	0.01257	0.069218	0.14554	-2.712	0.13893	T	.	.	0.079	0.09385	B	.;.;.	.;.;.	-0.578230	0.01633	0.113	0.60277366403116528	0.06425	0.00031	0.00285	N	AEFBI	0.021009	0.00889	N	-1.21141140468678	0.04833	0.218967	-1.35673268790221	0.03727	0.1744511	2.06319095939035E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.569	-1.01	0.09650	-1.643000	0.02106	.	.	-2.138000	0.00378	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	982	0.03397	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.15	3090.3	35	chr19	54830226	.	C	T	3090.3	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-3.236e+00;DP=4472;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.69;MQRankSum=-1.825e+01;QD=1.51;ReadPosRankSum=2.95;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:307,28:335:99:0|1:54830166_G_C:252,0,12807:54830166	14	0	6	1
chr19	54830253	54830253	C	-	exonic	KIR3DL1	.	frameshift deletion	KIR3DL1:NM_001322168:exon9:c.1313delC:p.S438Ffs*6	.	.	484	969	56	13	0	82	0.0405941	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.228e-07	4.922e-05	0	1.456e-06	9.442e-07	0	0	.	.	0	0	0	0	0	0	9.442e-07	0	0	0	4.801e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	2796.99	35	chr19	54830252	.	TC	T	2796.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-2.582e+00;DP=4357;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.62;MQRankSum=-1.642e+01;QD=1.45;ReadPosRankSum=-1.343e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,28:316:99:0|1:54830166_G_C:309,0,12009:54830166	15	0	6	0
chr19	54830256	54830258	AAG	-	exonic	KIR3DL1	.	nonframeshift deletion	KIR3DL1:NM_001322168:exon9:c.1316_1318del:p.C439_T445delinsFLPISTTVRP*	.	.	491	962	56	13	0	82	0.0408774	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.446e-06	4.922e-05	1.435e-06	1.456e-06	1.888e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.888e-06	0	0	0	4.808e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	2545.27	35	chr19	54830255	.	AAAG	A	2545.27	.	AC=6;AF=0.150;AN=40;BaseQRankSum=-1.717e+00;DP=4318;ExcessHet=1.8958;FS=0.000;InbreedingCoeff=-0.0857;MLEAC=6;MLEAF=0.150;MQ=58.64;MQRankSum=-1.636e+01;QD=1.34;ReadPosRankSum=-1.346e+00;SOR=0.725	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:288,27:315:99:0|1:54830166_G_C:267,0,12012:54830166	14	0	6	1
chr19	54837828	54837828	C	T	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon3:c.C323T:p.P108L	.	.	421	1099	1	1	0	3	0.00136302	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.366e-05	0	0	0	0	0	0.0035	0.0001	3.23e-05	5	154602	rs748596446	2.272e-05	2.331e-05	7.056e-06	3.858e-05	0.0004	1.644e-05	1.407e-05	0.0003	0.0002	0	0	0	0	0	0.0002	9.274e-07	3.455e-05	0.0004	3.495e-05	3.334e-05	0	7.198e-05	0.0012	1.322e-05	8.42e-06	0.0005	0.0003	0	0	0	0	0	0	0	0	0	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04762	6908.08	39	chr19	54837828	.	C	T	6908.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.020e-01;DP=1685;ExcessHet=0.0000;FS=18.951;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.29;MQRankSum=13.98;QD=27.30;ReadPosRankSum=3.16;SOR=1.124	GT:AD:DP:GQ:PL	1/1:19,234:253:99:6936,100,0	20	1	0	0
chr19	54847203	54847203	T	0	exonic	KIR2DS1;KIR2DS2;KIR2DS3;KIR2DS4;KIR2DS5;KIR3DS1;LOC102725023;LOC112268355	.	.	.	.	.	377	455	672	5	13	695	0.428392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	15952.71	34	chr19	54847203	.	T	C,*	15952.71	.	AC=11,6;AF=0.262,0.143;AN=42;BaseQRankSum=-1.075e+00;DP=8145;ExcessHet=25.1139;FS=1.133;InbreedingCoeff=-0.6800;MLEAC=11,6;MLEAF=0.262,0.143;MQ=59.51;MQRankSum=-4.222e+00;QD=2.08;ReadPosRankSum=-1.400e-01;SOR=0.815	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:308,115,72:495:99:.:.:2166,0,9054,393,6975,14869	4	0	11	0
chr19	54855625	54855625	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A662T:p.Y221F	.	.	417	757	348	0	0	348	0.186896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.957	D	0.987	U	1.000	N	1.885	L	5.76	T	-0.914	T	0.007	T	0.13	2.147	13.14	-0.254	-0.134	-1.675	3.712	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	.;.	.	.	.	.	.	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	0.3571	20296.38	88	chr19	54855625	.	A	T	20296.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-8.030e-01;DP=5048;ExcessHet=17.4423;FS=6.158;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.76;MQRankSum=-1.439e+01;QD=4.26;ReadPosRankSum=0.340;SOR=0.588	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:332,55:387:99:0|1:54855608_TCTC_T:1310,0,13775:54855608	6	0	15	0
chr19	54855628	54855628	A	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon5:c.A665G:p.E222G	.	.	417	765	340	0	0	340	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.999	D	0.99	D	0.407	U	1.000	N	0.715	N	5.81	T	-0.864	T	0.005	T	0.109	0.702	7.744	0.993	0.705	-1.951	4.242	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	.;.	.	.	.	.	.	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	0.3571	19524.38	88	chr19	54855628	.	A	G	19524.38	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-2.458e+00;DP=5081;ExcessHet=17.4423;FS=6.361;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.357;MQ=57.81;MQRankSum=-1.448e+01;QD=4.07;ReadPosRankSum=0.351;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:336,55:391:99:0|1:54855608_TCTC_T:1298,0,13836:54855608	6	0	15	0
chr19	54855667	54855668	AG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_001242867:exon5:c.704_705del:p.Q235Rfs*10	.	.	415	977	130	0	0	130	0.06238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3948.51	88	chr19	54855666	.	CAG	C	3948.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.013e+00;DP=3294;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.18;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-6.440e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:367,34:401:99:0|1:54855666_CAG_C:293,0,15260:54855666	14	0	7	0
chr19	54855669	54855669	-	CA	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_001242867:exon5:c.706_707insCA:p.G237Qfs*5	.	.	418	973	131	0	0	131	0.0630717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3954.51	88	chr19	54855669	.	G	GCA	3954.51	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.566;DP=3235;ExcessHet=2.5830;FS=18.051;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.30;MQRankSum=-1.766e+01;QD=1.78;ReadPosRankSum=-9.070e-01;SOR=1.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:366,34:400:99:0|1:54855666_CAG_C:296,0,15220:54855666	14	0	7	0
chr19	54865810	54865810	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T955C:p.C319R	.	.	403	855	264	0	0	264	0.133739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.001	B	.	.	1.000	N	-0.69	N	7.32	T	-0.976	T	0.001	T	0.094	-0.882	0.475	-0.763	-1.126	-1.523	.	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31702.71	90	chr19	54865810	.	T	C	31702.71	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-1.293e+00;DP=3755;ExcessHet=14.4320;FS=1.258;InbreedingCoeff=-0.5016;MLEAC=14;MLEAF=0.333;MQ=58.31;MQRankSum=-9.487e+00;QD=9.30;ReadPosRankSum=1.76;SOR=0.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:160,57:217:99:0|1:54865770_G_A:1912,0,6547:54865770	7	0	14	0
chr19	54865825	54865825	G	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G970A:p.V324I	.	.	402	857	263	0	0	263	0.13303	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.259	B	0.269	B	.	.	1.000	N	0.7	N	7.31	T	-0.975	T	0.001	T	0.028	-1.590	0.014	-1.58	-0.698	-0.374	3.986	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.35	30212.51	90	chr19	54865825	.	G	A	30212.51	.	AC=14;AF=0.350;AN=40;BaseQRankSum=0.417;DP=3951;ExcessHet=14.4320;FS=0.000;InbreedingCoeff=-0.5273;MLEAC=14;MLEAF=0.350;MQ=58.36;MQRankSum=-1.018e+01;QD=8.39;ReadPosRankSum=2.06;SOR=0.640	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:171,59:230:99:0|1:54865770_G_A:1963,0,7003:54865770	6	0	14	1
chr19	54865847	54865847	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T992C:p.V331A	.	.	401	853	268	0	0	268	0.135765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.988	D	0.985	D	0.029	N	1.000	N	0.125	N	7.27	T	-0.917	T	0.002	T	0.051	-1.319	0.034	-1.58	-1.598	-0.458	5.878	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	31525.16	90	chr19	54865847	.	T	C	31525.16	.	AC=14;AF=0.333;AN=42;BaseQRankSum=2.74;DP=3983;ExcessHet=14.4320;FS=0.597;InbreedingCoeff=-0.5108;MLEAC=14;MLEAF=0.333;MQ=58.27;MQRankSum=-1.006e+01;QD=8.70;ReadPosRankSum=0.977;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,62:231:99:0|1:54865770_G_A:2095,0,6910:54865770	7	0	14	0
chr19	54865852	54865852	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T997A:p.F333I	.	.	399	856	267	0	0	267	0.134917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	0.521	N	1.000	N	-2.6	N	7.41	T	-0.951	T	0.000	T	0.186	-2.169	0.005	-0.556	-1.246	-2.075	1.833	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	.;.	.	.	.	.	.	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	1	0	0	0	0.325	28126.08	90	chr19	54865852	.	T	A	28126.08	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.146e+00;DP=3964;ExcessHet=11.8493;FS=0.602;InbreedingCoeff=-0.4757;MLEAC=13;MLEAF=0.325;MQ=58.29;MQRankSum=-1.050e+01;QD=8.38;ReadPosRankSum=0.494;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:169,58:227:99:0|1:54865770_G_A:1927,0,6922:54865770	7	0	13	1
chr19	54865864	54865864	C	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1009A:p.L337I	.	.	400	855	267	0	0	267	0.135053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.01	B	0.021	B	0.026	N	1.000	N	-0.145	N	7.01	T	-0.867	T	0.001	T	0.124	-3.306	0.001	-1.51	-3.388	-1.355	6.404	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26881.91	90	chr19	54865864	.	C	A	26881.91	.	AC=13;AF=0.325;AN=40;BaseQRankSum=-1.450e-01;DP=3884;ExcessHet=11.8493;FS=0.608;InbreedingCoeff=-0.4745;MLEAC=13;MLEAF=0.325;MQ=58.33;MQRankSum=-9.748e+00;QD=8.20;ReadPosRankSum=-7.570e-01;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,59:217:99:0|1:54865770_G_A:2002,0,6457:54865770	7	0	13	1
chr19	54865870	54865870	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1015T:p.L339F	.	.	404	855	263	0	0	263	0.1333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.999	D	0.997	D	0.959	U	1.000	N	1.445	L	6.74	T	-0.940	T	0.004	T	0.25	0.087	4.467	-1.58	-0.826	-0.444	2.405	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	26642.8	90	chr19	54865870	.	C	T	26642.8	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.75;DP=3832;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=58.31;MQRankSum=-9.500e+00;QD=8.27;ReadPosRankSum=-1.440e+00;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:158,56:214:99:0|1:54865770_G_A:1876,0,6466:54865770	7	0	13	1
chr19	54865885	54865885	T	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.T1030C:p.Y344H	.	.	413	843	266	0	0	266	0.13627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.008	B	0.001	N	1.000	N	-2.525	N	7.27	T	-0.904	T	0.000	T	0.061	-2.893	0.001	-0.356	-0.649	-0.514	4.953	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	23642.28	90	chr19	54865885	.	T	C	23642.28	.	AC=13;AF=0.325;AN=40;BaseQRankSum=3.17;DP=3617;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4940;MLEAC=14;MLEAF=0.350;MQ=58.28;MQRankSum=-9.078e+00;QD=7.87;ReadPosRankSum=-1.919e+00;SOR=0.730	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,52:204:99:0|1:54865770_G_A:1726,0,6226:54865770	7	0	13	1
chr19	54865888	54865888	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.C1033T:p.R345C	.	.	413	854	255	0	0	255	0.129903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.997	D	0.003	U	1.000	N	1.9	L	7.01	T	-0.926	T	0.005	T	0.315	0.191	5.027	0.792	0.706	-0.531	4.875	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	.;.	.	.	.	.	.	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	1	0	0	0	0.325	22402.2	90	chr19	54865888	.	C	T	22402.2	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.84;DP=3561;ExcessHet=11.8493;FS=0.626;InbreedingCoeff=-0.4886;MLEAC=14;MLEAF=0.350;MQ=58.25;MQRankSum=-9.209e+00;QD=7.57;ReadPosRankSum=-1.902e+00;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:152,50:202:99:0|1:54865770_G_A:1642,0,6208:54865770	7	0	13	1
chr19	54865893	54865893	G	C	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon6:c.G1038C:p.W346C	.	.	419	848	255	0	0	255	0.130702	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.998	D	0.005	U	1.000	N	2.56	M	7.16	T	-0.938	T	0.005	T	0.423	0.755	7.999	0.792	0.706	0.774	4.875	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.325	21734.24	90	chr19	54865893	.	G	C	21734.24	.	AC=13;AF=0.325;AN=40;BaseQRankSum=2.60;DP=3482;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4768;MLEAC=13;MLEAF=0.325;MQ=58.20;MQRankSum=-8.978e+00;QD=7.60;ReadPosRankSum=-2.084e+00;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:148,51:199:99:0|1:54865770_G_A:1662,0,5997:54865770	7	0	13	1
chr19	54866420	54866420	C	G	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon7:c.C1105G:p.Q369E	.	.	420	771	331	0	0	331	0.176722	0.0001	0.016	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.002	B	.	.	1.000	N	-1.735	N	7.23	T	-0.988	T	0.000	T	0.038	-2.832	0	-1.86	-0.450	0.343	6.644	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	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3333	15435.48	140	chr19	54866420	.	C	G	15435.48	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-3.889e+00;DP=4431;ExcessHet=14.4320;FS=9.928;InbreedingCoeff=-0.5000;MLEAC=14;MLEAF=0.333;MQ=58.11;MQRankSum=-1.691e+01;QD=3.94;ReadPosRankSum=1.08;SOR=0.395	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:241,28:269:99:0|1:54866416_T_C:450,0,10035:54866416	7	0	14	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1402.14	99	chr19	55358524	.	C	*,T	1402.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2198;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.80;SOR=0.839	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,66,0:66:99:.:.:2953,205,0,2953,205,2953	0	18	2	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	1530.14	99	chr19	55358535	.	T	*,C	1530.14	.	AC=39,1;AF=0.929,0.024;AN=42;DP=2199;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=39,1;MLEAF=0.929,0.024;MQ=60.00;QD=0.88;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,66,0:66:99:.:.:2953,205,0,2953,205,2953	0	18	2	0
chr19	55622185	55622185	C	T	exonic	ZNF784	.	nonsynonymous SNV	ZNF784:NM_203374:exon2:c.G538A:p.E180K,	.	.	326	1176	20	0	0	20	0.0084317	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.895	P	0.191	B	0.002	N	1.000	D	0.695	N	2.99	T	-0.909	T	0.014	T	0.486	2.066	12.86	3.21	2.113	0.548	10.200	0.081	.	.	0.0091853	0.0179	0.0060	0	0	0	0.0078	0	0.0236	0.0042237	653	154602	rs200843026	0.0100	0.0097	0.0098	0.0103	0.0203	0.0099	0.0098	0.0195	0.0191	0.0013	0.0027	0.0031	0	0.0110	0.0069	0.0103	0.0087	0.0203	0.0065	0.0065	0.0065	0.0064	0.0223	0.0061	0.0060	0.0189	0.0176	0.0014	0	0.0030	0.0032	0.0004	0.0059	0	0.0101	0.0038	0.0223	0.506	0.07594	T	0.83	0.03717	T	0.895	0.49247	P	0.191	0.36391	B	0.001782	0.37998	N	0.000000	1	0.81001	D	0.895	0.22405	L	2.99	0.09262	T	0.14	0.05405	N	0.075	0.04913	-0.9087	0.47013	T	0.014	0.05753	T	10	0.003662169	0.00067	T	.	.	.	0.081	0.23632	.	.	0.186928172975	0.18263	0.34875874643154625	0.34789	1.55192575573	0.87917	0.892487764359	0.95567	D	0.004066	0.03473	T	-0.509117	0.00508	T	-0.487831	0.23619	T	0.0175677526721644	0.00490	T	0.713029	0.32487	T	0.12963565	0.30272	0.116971575	0.28237	0.12963565	0.30271	0.116971575	0.28236	-4.935	0.36126	T	.	.	0.355	0.56920	A	.	.	3.237655	0.44185	21.9	0.99802079065761995	0.88639	0.31536	0.24362	N	AEFDBCI	0.097369	0.19640	N	-0.357853418025427	0.26985	1.477026	-0.387883954714795	0.25357	1.393988	0.995097536887973	0.33950	0.580535	0.33130	0	0.550933	0.16991	0	0.536957	0.11973	0	0.604944	0.38103	0	.	.	3.21	3.21	0.35933	0.983000	0.29150	2.625000	0.33658	0.522000	0.23927	0.095000	0.22689	0.858000	0.27459	0.539000	0.29915	0.0:1.0:0.0:0.0	10.200	0.42254	911	0.21964	.	ZNF784|ZNF784|CTD-2537I9.18|ZNF784	Adipose_Subcutaneous|Nerve_Tibial|Thyroid|Thyroid	.	.	.	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	0.02381	505.98	35	chr19	55622185	.	C	T	505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.97;DP=726;ExcessHet=0.0000;FS=1.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=-1.097e+00;SOR=0.874	GT:AD:DP:GQ:PL	0/1:34,18:52:99:520,0,840	20	0	1	0
chr19	57999867	57999867	C	T	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348022:exon4:c.G118A:p.V40M	.	.	383	1126	13	0	0	13	0.00573951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.001	B	0.001	B	0.496	N	1.000	N	-0.345	N	3.68	T	-0.923	T	0.008	T	0.18	-1.095	0.148	-5.24	-1.136	-1.454	5.819	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	362.98	33	chr19	57999867	.	C	T	362.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.961e+00;DP=803;ExcessHet=0.0000;FS=2.156;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.42;ReadPosRankSum=0.374;SOR=0.775	GT:AD:DP:GQ:PL	0/1:45,22:67:99:377,0,1113	20	0	1	0
chr19	58417384	58417384	G	A	exonic	ZNF584	.	nonsynonymous SNV	ZNF584:NM_001363680:exon4:c.G731A:p.R244Q	.	.	424	1085	11	2	0	15	0.00686499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	.	.	0.863	N	0.405	N	1.29	T	-0.960	T	0.028	T	0.054	-0.317	2.493	-2.29	-0.172	-0.003	8.258	0.041	.	0.0035	0.00239617	0.0055	0.0005	0.0014	0	0.0237	0.0066	0.0110	0.0025	0.0052781	816	154602	rs35111737	0.0060	0.0060	0.0061	0.0060	0.0110	0.0059	0.0059	0.0088	0.0080	0.0008	0.0017	0.0106	0	0.0254	0.0110	0.0058	0.0061	0.0021	0.0057	0.0057	0.0051	0.0062	0.0071	0.0053	0.0052	0.0066	0.0064	0.0009	0	0.0027	0.0118	0	0.0219	0.0205	0.0071	0.0057	0.0017	0.734	0.03764	T	0.784	0.04274	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	0.999995	0.08975	N	0.28	0.10031	N	1.29	0.35775	T	1.63	0.00629	N	0.058	0.03726	-0.9596	0.39255	T	0.028	0.11838	T	9	0.004229307	0.00084	T	.	.	.	0.041	0.10877	.	.	0.21279746466	0.20884	0.15045638723025195	0.14967	0.239648727722	0.26511	0.274905443192	0.06792	T	0.005071	0.04506	T	-0.68172	0.00047	T	-0.745197	0.03676	T	0.00341476257635282	0.00036	T	0.741726	0.36682	T	0.029593606	0.02479	0.053629592	0.09072	0.029593606	0.02479	0.053629592	0.09072	-0.723	0.00739	T	.	.	0.072	0.05890	B	.;.	.;.	0.162145	0.05527	1.987	0.75716381492158857	0.11183	0.04870	0.10609	N	AEFBI	.	.	.	-1.32224677869663	0.03421	0.1528141	-1.23585087168514	0.05344	0.2543848	0.0812753254984414	0.15869	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	3.78	-2.29	0.06419	-0.884000	0.04273	-2.949000	0.03201	-0.763000	0.03499	0.000000	0.06391	0.000000	0.08366	0.916000	0.45140	0.6334:0.0:0.3666:0.0	8.258	0.30929	929	0.16858	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	.	.	.	.	rs35111737	Likely benign	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	0.04762	4311.11	34	chr19	58417384	.	G	A	4311.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.11;DP=1705;ExcessHet=0.1072;FS=4.621;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.87;ReadPosRankSum=-7.710e-01;SOR=0.481	GT:AD:DP:GQ:PL	0/1:66,90:156:99:2579,0,1608	19	0	2	0
chr20	3754520	3754520	C	T	splicing	C20orf27	NM_001258429:exon5:c.302-1G>A;NM_001258430:exon5:c.302-1G>A;NM_001039140:exon5:c.377-1G>A	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.726	15.07	4.82	2.677	6.276	15.809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26167	0.79684	D	0.138094	0.79421	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.143698	0.86130	28.8	0.99485474608404345	0.67124	0.90604	0.51918	D	AEFDBCI	.	.	.	1.02435062358432	0.96444	14.70378	0.832426737834642	0.91949	11.15412	0.999999763489252	0.74766	0.322412	0.05557	0	0.31918	0.05746	0	0.283776	0.05401	0	0.24341	0.04801	0	0.978366	0.82470	4.82	4.82	0.61641	4.827000	0.62413	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.384000	0.26424	0.0:1.0:0.0:0.0	15.809	0.78318	779	0.47767	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2928.08	37	chr20	3754520	.	C	T	2928.08	.	AC=2;AF=0.048;AN=42;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.82;SOR=0.999	GT:AD:DP:GQ:PL	1/1:0,95:95:99:2956,285,0	20	1	0	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.805	M	1.81	T	-0.672	T	0.200	T	0.989	4.476	23.9	5.24	2.630	7.128	16.698	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	3189.23	101	chr20	3803192	.	G	C	3189.23	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.821e+00;DP=2547;ExcessHet=20.9642;FS=188.196;InbreedingCoeff=-0.6177;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=1.63;SOR=13.596	GT:AD:DP:GQ:PL	0/1:66,32:108:99:148,0,1182	5	0	16	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.998	D	0.000	D	1.000	D	1.935	M	1.98	T	-1.040	T	0.128	T	0.791	4.250	22.1	6.17	2.941	5.778	13.996	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	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.4524	4553.08	146	chr20	34852409	.	G	C	4553.08	.	AC=19;AF=0.452;AN=42;BaseQRankSum=-3.218e+00;DP=3222;ExcessHet=36.0830;FS=276.126;InbreedingCoeff=-0.8285;MLEAC=19;MLEAF=0.452;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.755;SOR=12.688	GT:AD:DP:GQ:PL	0/1:76,43:124:99:310,0,1170	2	0	19	0
chr20	38012612	38012612	G	A	exonic	TTI1	.	nonsynonymous SNV	TTI1:NM_001303457:exon2:c.C1205T:p.S402F	.	.	433	1084	5	0	0	5	0.00230097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.834	P	0.42	B	0.004	N	0.899	N	2.015	M	2.41	T	-1.058	T	0.051	T	0.643	0.790	8.162	4.49	2.861	3.173	8.907	0.112	0.00518472384454	0.0002	0.00139776	0.0010	0	8.639e-05	0	0	0.0006	0.0011	0.0048	0.0008603	133	154602	rs200453222	0.0006	0.0006	0.0004	0.0007	0.0049	0.0005	0.0005	0.0045	0.0044	5.974e-05	4.472e-05	0.0072	0	0	0.0016	0.0001	0.0007	0.0049	0.0004	0.0004	0.0003	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	0	0	0.0002	0.0075	0	0	0	0.0001	0.0009	0.0044	0.005	0.63226	D	0.02	0.58613	D	0.834	0.46206	P	0.42	0.45080	B	0.003794	0.34487	N	0.342317	0.899359	0.27731	N	2.48	0.72069	M	2.41	0.15492	T	-3.59	0.69236	D	0.543	0.57263	-1.0585	0.12134	T	0.051	0.21572	T	10	0.012434214	0.00267	T	0.005185	0.13187	T	0.112	0.31546	.	.	0.496891249646	0.49325	0.2327331264685259	0.23188	0.447694606286	0.44630	0.439351499081	0.30488	T	0.185292	0.53821	T	-0.366221	0.03790	T	-0.297737	0.44962	T	0.0909602871947454	0.11332	T	0.919908	0.71037	D	0.17750156	0.38719	0.18701759	0.41909	0.13837087	0.32004	0.1818927	0.41080	-5.972	0.46045	T	.	.	0.213	0.44161	B	.;.;.	.;.;.	3.663436	0.52058	23.2	0.99195756002772684	0.55112	0.78605	0.38806	D	AEFBI	.	.	.	0.353938589522648	0.58946	4.070348	0.357130589738235	0.58937	4.067715	0.652663239831108	0.22181	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	4.49	0.54177	2.879000	0.48220	8.551000	0.77529	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.779000	0.36868	0.0887:0.1665:0.7447:0.0	8.907	0.34687	746	0.52331	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	5038.08	36	chr20	38012612	.	G	A	5038.08	.	AC=2;AF=0.048;AN=42;DP=860;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=33.36;SOR=0.706	GT:AD:DP:GQ:PL	1/1:0,151:151:99:5066,453,0	20	1	0	0
chr20	43514564	43514564	A	G	exonic	L3MBTL1	.	nonsynonymous SNV	L3MBTL1:NM_001377307:exon1:c.A20G:p.H7R	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.039	B	0.01	B	0.001	N	1.000	N	0	N	2.27	T	-1.022	T	0.023	T	0.13	1.409	10.65	1.37	0.398	-0.863	4.033	0.014	0.00883585119161	.	.	5.274e-05	0	0	0	0	0	0	0.0002	1.29e-05	2	154602	rs757452025	1.248e-05	1.3e-05	1.239e-05	1.257e-05	0.0003	7.8e-06	6.44e-06	7.352e-05	5.648e-05	0	0	0	0	0	0.0003	4.536e-06	0	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.529	0.15010	T	0.039	0.21116	B	0.01	0.14941	B	0.000878	0.00701	N	3.872860	1	0.08975	N	.	.	.	2.23	0.18083	T	-0.08	0.08187	N	0.049	0.04668	-1.0221	0.23031	T	0.023	0.09650	T	10	0.07290208	0.10945	T	0.008836	0.23318	T	0.014	0.01968	0.237	0.16760	0.0138822411134	0.00435	.	.	.	.	.	.	.	0.006711	0.06137	T	-0.463862	0.00930	T	-0.634783	0.10053	T	0.417912662029266	0.29613	T	0.312769	0.06128	T	.	.	.	.	.	.	.	.	-1.469	0.01728	T	.	.	0.065	0.02200	B	.;.;.	.;.;.	0.283828	0.06604	3.098	0.63363483641327811	0.07204	0.01104	0.04047	N	ALL	0.042800	0.06686	N	-1.16229503645705	0.05580	0.254765	-1.19629817618575	0.05971	0.2860587	0.999999999997175	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	2.47	1.37	0.21200	-0.519000	0.06345	-0.224000	0.10736	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.8236:0.0:0.1764:0.0	4.033	0.09201	662	0.61715	.;.;.	.	.	.	.	.	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	1	0	0	0	0.04762	869.11	43	chr20	43514564	.	A	G	869.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.970e-01;DP=771;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=8.36;ReadPosRankSum=1.04;SOR=0.646	GT:AD:DP:GQ:PL	0/1:32,18:50:99:340,0,784	19	0	2	0
chr20	46186653	46186653	C	T	exonic	CDH22	.	nonsynonymous SNV	CDH22:NM_021248:exon10:c.G1598A:p.R533H,	.	.	430	1081	10	1	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.004	B	0.002	B	0.000	D	0.573	N	0.465	N	0.71	T	-1.011	T	0.068	T	0.184	0.593	7.196	3.43	0.844	0.903	11.322	0.095	0.0245251552206	0.0025	0.00159744	0.0022	0.0005	0.0055	0	0.0009	0.0024	0.0022	0.0018	0.0022057	341	154602	rs117065621	0.0037	0.0037	0.0040	0.0035	0.0058	0.0036	0.0036	0.0052	0.0050	0.0006	0.0058	7.653e-05	2.519e-05	0.0004	0.0022	0.0042	0.0052	0.0020	0.0031	0.0031	0.0029	0.0033	0.0118	0.0029	0.0028	0.0104	0.0098	0.0009	0	0.0118	0	0.0004	9.418e-05	0	0.0035	0.0043	0.0023	0.719	0.03937	T	0.525	0.10281	T	0.004	0.12183	B	0.002	0.06944	B	0.000472	0.44119	D	0.200609	0.573016	0.31163	N	0.18	0.09070	N	0.71	0.51228	T	-1.91	0.44471	N	0.238	0.26957	-1.0109	0.26635	T	0.068	0.27845	T	10	0.009097874	0.00206	T	0.024525	0.47518	T	0.095	0.27398	.	.	0.53177700221	0.52827	0.37455247236477	0.37369	.	.	0.478638410568	0.35869	T	0.029391	0.21072	T	-0.542079	0.00326	T	-0.549654	0.17360	T	0.0259094372600592	0.01394	T	0.89621	0.63821	D	0.073304094	0.16371	0.07105437	0.15169	0.073304094	0.16371	0.07105437	0.15168	-7.22	0.55625	T	.	.	0.078	0.06710	B	.;.	.;.	2.771842	0.36384	20.2	0.58849105272604574	0.06087	0.77047	0.37841	D	AEFBI	0.324784	0.42657	N	-0.521138146981949	0.21398	1.135251	-0.340731177658341	0.26797	1.482509	0.00331081076299654	0.10046	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.38	3.43	0.38372	0.938000	0.28562	0.623000	0.20150	0.577000	0.29297	0.993000	0.37899	0.998000	0.33993	0.990000	0.65344	0.0:0.909:0.0:0.091	11.322	0.48667	510	0.75209	Cadherin-like|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	0.02381	1278.98	33	chr20	46186653	.	C	T	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.540e-01;DP=791;ExcessHet=0.0000;FS=1.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.66;ReadPosRankSum=-1.441e+00;SOR=0.529	GT:AD:DP:GQ:PL	0/1:52,49:101:99:1293,0,1356	20	0	1	0
chr20	47238856	47238856	T	C	exonic	ZMYND8	.	nonsynonymous SNV	ZMYND8:NM_001281784:exon14:c.A2351G:p.K784R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.999	D	0.996	D	0.000	U	1.000	D	.	.	-2.12	D	0.658	D	0.783	D	0.628	3.211	16.76	5.71	2.171	5.059	15.657	0.367	0.137403765003	.	.	8.544e-06	0	0	0	0	1.571e-05	0	0	6.5e-06	1	154602	rs764584368	5.475e-06	5.472e-06	6.809e-06	4.127e-06	0.0003	2.36e-06	1.7e-06	6.092e-05	2.521e-05	0	0	3.826e-05	0	0	0.0003	3.597e-06	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	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	0.006	0.61437	D	0.022	0.57587	D	0.997	0.77913	D	0.985	0.84481	D	0.000001	0.84330	U	0.000000	1	0.81001	D	1.1	0.28011	L	-2.23	0.87830	D	-1.63	0.39119	N	0.233	0.28849	0.658	0.92648	D	0.783	0.92624	D	9	0.29241216	0.46818	T	0.137404	0.81990	D	0.367	0.68670	0.208	0.12497	0.881380982873	0.88022	0.38487671329915346	0.38402	.	.	.	.	.	0.043359	0.26478	T	0.151748	0.69431	D	-0.0198012	0.69042	D	0.676302850246429	0.39620	D	0.926207	0.74231	D	0.26471376	0.49538	0.29487088	0.55518	0.26471376	0.49538	0.29487088	0.55517	-3.366	0.14602	T	.	.	0.131	0.39681	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106680	0.61274	24.3	0.99856427080554278	0.93548	0.95541	0.65132	D	AEFBCI	0.672606	0.63895	D	0.603998518882334	0.73426	5.964376	0.604238031960578	0.75246	6.27697	0.999955992720115	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.636168	0.56350	0	.	.	5.71	5.71	0.89031	5.043000	0.64012	2.300000	0.32012	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.657	0.76905	782	0.47442	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2257.98	35	chr20	47238856	.	T	C	2257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.638e+00;DP=851;ExcessHet=0.0000;FS=1.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.90;ReadPosRankSum=0.188;SOR=0.883	GT:AD:DP:GQ:PL	0/1:59,83:142:99:2272,0,1659	20	0	1	0
chr20	49906820	49906820	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A362C:p.Y121S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.96	D	0.663	P	0.005	N	1.000	D	1.5	L	-0.03	T	-0.679	T	0.243	T	0.725	2.673	14.90	4.5	0.929	3.710	10.019	0.331	0.030845030118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.036	0.52060	D	0.96	0.55278	D	0.663	0.52893	P	0.004612	0.33568	N	0.293492	0.991121	0.81001	D	2.095	0.58118	M	-0.03	0.63077	T	-2.87	0.60348	D	0.71	0.71498	-0.6788	0.61428	T	0.243	0.61201	T	10	0.58538824	0.66081	D	0.030845	0.53068	D	0.331	0.65325	0.434	0.48500	0.362933182269	0.35899	0.6727801292125147	0.67216	0.399734681576	0.40989	0.4348269701	0.29869	T	0.055225	0.29946	T	0.101775	0.64483	D	-0.0915834	0.64042	T	0.774645328521729	0.44721	D	0.831017	0.49766	T	0.51594	0.68026	0.20415933	0.44526	0.51594	0.68027	0.20415933	0.44525	-6.65	0.51433	T	.	.	0.125	0.27313	B	.;.	.;.	3.113050	0.41995	21.5	0.98055628144904006	0.37905	0.90706	0.52107	D	AEDBHCI	0.411785	0.48212	N	0.0525829897013685	0.44261	2.703404	0.0378185106348584	0.41487	2.493255	0.789198283229838	0.23985	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	4.5	0.54382	3.720000	0.54661	2.343000	0.32266	-0.255000	0.07062	1.000000	0.71638	0.998000	0.33993	0.975000	0.56047	0.2698:0.0:0.0:0.7302	10.019	0.41205	970	0.06235	.;.	.	.	.	.	.	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	0.08333	527.98	39	chr20	49906820	.	T	G	527.98	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.444e+00;DP=1179;ExcessHet=0.3300;FS=254.639;InbreedingCoeff=-0.1201;MLEAC=3;MLEAF=0.083;MQ=60.00;MQRankSum=0.00;QD=1.96;ReadPosRankSum=1.65;SOR=8.286	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,17:89:99:0|1:49906820_T_G:125,0,2316:49906820	15	0	3	3
chr20	49906823	49906823	T	G	exonic	SPATA2	.	nonsynonymous SNV	SPATA2:NM_001135773:exon3:c.A359C:p.Y120S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	2.175	M	0.01	T	-0.116	T	0.429	T	0.96	4.105	21.1	5.61	2.126	7.505	15.802	0.740	0.129027542904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	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	2.625	0.76847	M	0.01	0.62459	T	-5.92	0.88963	D	0.947	0.95491	-0.1164	0.79718	T	0.429	0.77173	T	10	0.9058163	0.89946	D	0.129028	0.81103	D	0.740	0.90982	0.704	0.84054	0.484824406055	0.48112	0.7453351515872784	0.74479	0.963419316255	0.73082	0.746162295341	0.73880	T	0.451357	0.79211	T	0.338223	0.85713	D	0.248058	0.85525	D	0.994831421425804	0.86377	D	0.845915	0.52533	T	0.9436017	0.95614	0.89609224	0.94699	0.9436017	0.95614	0.89609224	0.94699	-5.655	0.43291	T	.	.	0.896	0.82547	P	.;.	.;.	5.048950	0.84086	28.2	0.99191121793113657	0.54994	0.95960	0.66903	D	AEDBHCI	0.878899	0.80446	D	0.701199312438925	0.79710	7.135678	0.654387342827681	0.78937	6.978046	0.99999941042468	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.61	5.61	0.85347	7.515000	0.80659	7.929000	0.74923	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.802	0.78236	970	0.06235	.;.	.	.	.	.	.	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	0.05556	280.31	39	chr20	49906823	.	T	G	280.31	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.439e+00;DP=1168;ExcessHet=0.1072;FS=219.716;InbreedingCoeff=-0.0910;MLEAC=2;MLEAF=0.056;MQ=60.00;MQRankSum=0.00;QD=1.55;ReadPosRankSum=1.44;SOR=8.015	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,17:89:99:0|1:49906820_T_G:125,0,2316:49906820	16	0	2	3
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.035	M	-0.72	T	0.381	D	0.611	D	0.955	5.001	29.4	5.25	2.455	7.813	18.871	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	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	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3182	1110.73	33	chr20	51516834	.	C	G	1110.73	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.139e+00;DP=1283;ExcessHet=2.5830;FS=294.373;InbreedingCoeff=-0.4045;MLEAC=10;MLEAF=0.455;MQ=60.00;MQRankSum=0.00;QD=2.00;ReadPosRankSum=-4.600e-02;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,32:87:99:.:.:125,0,1043	4	0	7	10
chr20	56452021	56452021	C	T	exonic	CASS4	.	nonsynonymous SNV	CASS4:NM_001164114:exon5:c.C683T:p.P228L	.	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.763	P	0.173	B	0.105	N	0.901	N	2.08	M	2.72	T	-0.844	T	0.054	T	0.118	0.522	6.826	4.99	2.462	0.739	16.816	0.116	0.00773284802539	.	0.000199681	0.0004	0	0	0.0001	0	1.499e-05	0.0011	0.0025	0.0003169	49	154602	rs199808780	0.0002	0.0002	0.0001	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	0	8.944e-05	0	5.038e-05	0	0.0010	8.993e-06	0.0004	0.0028	0.0001	0.0001	2.57e-05	0.0002	0.0031	6.506e-05	5.318e-05	0.0019	0.0015	0	0	0	0	0	0	0	1.47e-05	0	0.0031	0.321	0.13522	T	0.465	0.12421	T	0.651	0.40707	P	0.084	0.29270	B	0.105387	0.02587	N	1.855830	1	0.27692	N	2.14	0.59869	M	2.72	0.11947	T	-1.36	0.33798	N	0.119	0.10911	-0.8441	0.52372	T	0.054	0.22883	T	10	0.0059321523	0.00133	T	0.007733	0.20510	T	0.116	0.32463	0.186	0.09517	0.21737058555	0.21362	0.2770638353272919	0.27619	.	.	0.244354635477	0.03197	T	0.012599	0.11043	T	-0.623588	0.00104	T	-0.673133	0.07409	T	0.0362772715073025	0.03028	T	0.537046	0.18049	T	0.034564197	0.03903	0.049881324	0.07714	0.034564197	0.03903	0.049881324	0.07713	-1.042	0.01047	T	.	.	0.072	0.04198	B	.	.	1.297902	0.16994	12.89	0.23261144258535787	0.00975	0.28909	0.23681	N	AEFDBCI	0.162947	0.28917	N	-0.269465202340603	0.30334	1.690395	-0.355874315491979	0.26327	1.453487	0.999814827080499	0.43459	0.549168	0.22868	0	0.588066	0.40923	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.99	4.99	0.65942	1.935000	0.39802	2.525000	0.33139	-0.190000	0.09434	0.046000	0.21249	0.074000	0.22270	0.001000	0.02609	0.0:1.0:0.0:0.0	16.816	0.85597	986	0.02773	.	.	.	.	.	.	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	0.02381	1679.98	33	chr20	56452021	.	C	T	1679.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.090e-01;DP=797;ExcessHet=0.0000;FS=3.992;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.63;ReadPosRankSum=0.179;SOR=0.378	GT:AD:DP:GQ:PL	0/1:38,63:101:99:1694,0,1060	20	0	1	0
chr20	62413436	62413436	G	A	exonic	RBBP8NL	.	nonsynonymous SNV	RBBP8NL:NM_080833:exon11:c.C1640T:p.P547L,	.	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.014	B	0.007	B	0.714	U	1.000	N	1.32	L	2.07	T	-1.058	T	0.013	T	0.198	1.611	11.34	2.49	1.714	0.270	10.625	0.050	.	0.0002	0.0179712	0.0159	0.0002	0.0695	0.0658	0	0.0003	0.0023	0.0442	0.0092107	1424	154602	rs140552135	0.0037	0.0043	0.0034	0.0041	0.0624	0.0037	0.0036	0.0602	0.0593	0.0004	0.0369	0	0.0624	0.0001	0.0027	0.0002	0.0039	0.0255	0.0059	0.0060	0.0044	0.0076	0.0475	0.0056	0.0055	0.0427	0.0408	0.0004	0	0.0328	0	0.0475	0	0	0.0002	0.0052	0.0234	0.108	0.29420	T	0.006	0.70582	D	0.014	0.16867	B	0.007	0.12992	B	0.713736	0.06273	U	1.199320	1	0.08975	N	0	0.06538	N	2.07	0.20387	T	-0.56	0.17003	N	0.302	0.34120	-1.0575	0.12388	T	0.013	0.05225	T	10	0.002594471	0.00040	T	.	.	.	0.050	0.13987	.	.	.	.	0.10819837053959293	0.10748	0.0636878223407	0.07091	0.419292122126	0.27740	T	0.004053	0.03463	T	-0.642595	0.00080	T	-0.638293	0.09794	T	0.0165751981638537	0.00419	T	0.444256	0.12390	T	0.030446101	0.02709	0.043271556	0.05345	0.030446101	0.02709	0.043271556	0.05345	-6.155	0.47558	T	.	.	0.077	0.06433	B	.	.	1.295887	0.16970	12.88	0.89728895913262696	0.19049	0.03485	0.08649	N	AEFDBI	0.027950	0.02374	N	-0.849290633556143	0.12067	0.5859855	-0.913059744018854	0.11786	0.6025299	0.999991086371265	0.74766	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	2.49	2.49	0.29274	0.439000	0.21293	0.604000	0.19959	0.253000	0.18341	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.0:0.0:1.0:0.0	10.625	0.44690	824	0.40336	.	.	.	.	.	.	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	0.02381	1001.98	34	chr20	62413436	.	G	A	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.355;DP=760;ExcessHet=0.0000;FS=1.991;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.31;ReadPosRankSum=0.322;SOR=0.955	GT:AD:DP:GQ:PL	0/1:30,40:70:99:1016,0,688	20	0	1	0
chr20	62813433	62813433	G	0	exonic	OGFR	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	1104.12	25	chr20	62813433	.	G	A,*	1104.12	.	AC=5,2;AF=0.132,0.053;AN=38;BaseQRankSum=1.31;DP=480;ExcessHet=0.0090;FS=0.835;InbreedingCoeff=0.4177;MLEAC=5,2;MLEAF=0.132,0.053;MQ=52.89;MQRankSum=0.203;QD=11.27;ReadPosRankSum=1.31;SOR=0.830	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:9,6,0:15:99:.:.:173,0,260,201,278,478	14	1	3	2
chr20	62881068	62881068	C	T	exonic	DIDO1	.	nonsynonymous SNV	DIDO1:NM_001193369:exon16:c.G4888A:p.E1630K	.	.	418	1084	19	1	0	21	0.00959342	.	.	742526	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.83	T	0.006	B	0.001	B	0.567	N	1.000	N	0	N	3.15	T	-0.963	T	0.005	T	0.067	0.454	6.464	-2.67	-0.683	-0.685	2.289	0.033	.	0.0002	0.00439297	0.0033	0.0003	0.0003	0.0286	0	0.0003	0.0015	0.0059	0.0026261	406	154602	rs201746991	0.0012	0.0012	0.0010	0.0013	0.0214	0.0011	0.0011	0.0202	0.0197	0.0001	0.0005	0.0014	0.0214	2.028e-05	0.0019	0.0001	0.0040	0.0048	0.0014	0.0014	0.0013	0.0015	0.0264	0.0012	0.0012	0.0228	0.0215	0.0002	0	0.0012	0.0020	0.0264	0	0	0.0002	0.0024	0.0043	0.345	0.12511	T	0.496	0.11335	T	0.006	0.13644	B	0.001	0.04355	B	0.566787	0.05456	N	1.370700	1	0.08975	N	0.345	0.11182	N	3.15	0.07820	T	-0.69	0.19720	N	0.048	0.01999	-0.9625	0.38704	T	0.005	0.01506	T	10	0.0031928718	0.00054	T	.	.	.	0.033	0.08068	.	.	0.262679179196	0.25893	0.25062993531497235	0.24976	0.413178759555	0.42034	0.393840461969	0.24209	T	0.07762	0.35697	T	-0.742497	0.00020	T	-0.812862	0.01602	T	0.00300392465688742	0.00031	T	0.517348	0.16736	T	0.04582877	0.07568	0.03772025	0.03484	0.04582877	0.07567	0.03772025	0.03484	-3.976	0.23443	T	.	.	0.069	0.03128	B	.;.	.;.	0.279582	0.06563	3.054	0.64074853510350438	0.07394	0.11336	0.16566	N	AEFDGBCI	0.057267	0.10653	N	-1.3356885435977	0.03276	0.1460473	-1.35017390719816	0.03804	0.1781757	0.890231463533723	0.25831	0.700653	0.57754	0	0.708844	0.79440	0	0.717052	0.78885	0	0.635551	0.53088	0	.	.	5.06	-2.67	0.05703	-1.057000	0.03596	0.469000	0.18693	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.012000	0.09680	0.0969:0.2824:0.2501:0.3707	2.289	0.03881	814	0.42100	.;.	.	.	.	.	.	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	0.02381	997.98	40	chr20	62881068	.	C	T	997.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.71;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.10;ReadPosRankSum=-8.240e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:27,35:62:99:1012,0,683	20	0	1	0
chr20	63277245	63277245	C	T	exonic	ARFGAP1	.	nonsynonymous SNV	ARFGAP1:NM_001281483:exon4:c.C224T:p.S75L	.	.	419	1100	3	0	0	3	0.00136178	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.387	B	0.103	B	0.000	D	1.000	D	1.39	L	1.44	T	-0.971	T	0.087	T	0.177	3.166	16.59	5.1	2.372	3.467	16.699	0.062	.	0.0033	0.00359425	0.0046	0.0012	0.0138	0	0.0021	0.0053	0.0059	0.0004	0.0044437	687	154602	rs112090089	0.0038	0.0038	0.0038	0.0037	0.0115	0.0037	0.0036	0.0107	0.0104	0.0008	0.0115	0.0021	0	0.0025	0.0045	0.0041	0.0030	0.0004	0.0041	0.0041	0.0043	0.0039	0.0065	0.0038	0.0037	0.0055	0.0052	0.0012	0.0154	0.0065	0.0023	0	0.0031	0	0.0059	0.0090	0.0012	0.005	0.65419	D	0.094	0.69154	T	0.021	0.18474	B	0.007	0.14300	B	0.000002	0.62929	D	0.057437	0.999869	0.81001	D	2.25	0.63811	M	0.87	0.47815	T	-2.69	0.61722	D	0.2	0.25377	-0.9707	0.37052	T	0.087	0.33774	T	10	0.0073646605	0.00167	T	.	.	.	0.062	0.17934	.	.	0.507152531357	0.50353	0.30989034593472037	0.30902	0.110025136405	0.12406	0.336522698402	0.15917	T	0.18454	0.53723	T	-0.478769	0.00752	T	-0.450107	0.27685	T	0.0299985549280441	0.01990	T	0.89941	0.67839	D	0.3211507	0.54737	0.23370883	0.48567	0.3211507	0.54737	0.23370883	0.48566	-5.813	0.77254	T	.	.	0.072	0.10014	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.430975	0.47680	22.5	0.99829087005309713	0.91112	0.95439	0.64725	D	AEFGBCI	0.594256	0.58926	D	-0.0838899548376716	0.38098	2.226257	0.0306783309786777	0.41148	2.467231	0.999999999143705	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.1	5.1	0.68917	3.445000	0.52685	2.658000	0.33861	0.599000	0.40250	0.996000	0.39380	0.992000	0.31684	0.608000	0.31589	0.0:1.0:0.0:0.0	16.699	0.85201	.	.	.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	1029.98	34	chr20	63277245	.	C	T	1029.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=773;ExcessHet=0.0000;FS=5.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.44;ReadPosRankSum=-8.970e-01;SOR=1.257	GT:AD:DP:GQ:PL	0/1:50,40:90:99:1044,0,1303	20	0	1	0
chr20	63680717	63680717	C	G	exonic	RTEL1	.	nonsynonymous SNV	RTEL1:NM_001283010:exon13:c.C520G:p.Q174E	Dyskeratosis congenita, autosomal dominant 4, Autosomal recessive, Autosomal dominant;Dyskeratosis congenita, autosomal recessive 5, Autosomal recessive, Autosomal dominant;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, Autosomal dominant	.	416	1102	4	0	0	4	0.00181159	0.8031	0.558	573630	Dyskeratosis_congenita|Dyskeratosis_congenita,_autosomal_recessive_5|Pulmonary_fibrosis_and/or_bone_marrow_failure,_Telomere-related,_3	MONDO:MONDO:0015780,MedGen:C0265965,OMIM:PS127550,Orphanet:1775|MONDO:MONDO:0014076,MedGen:C3554656,OMIM:615190|MONDO:MONDO:0014613,MedGen:C4225346,OMIM:616373,Orphanet:2032	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.986	D	0.867	P	0.000	D	1.000	D	1.995	M	-1.52	D	0.249	D	0.639	D	0.518	3.083	16.30	4.82	2.199	6.658	17.501	0.426	0.211824668098	0.0005	0.000599042	0.0006	0	0.0003	0	0	0.0006	0.0022	0.0015	0.0006015	93	154602	rs150285674	0.0008	0.0008	0.0007	0.0008	0.0013	0.0007	0.0007	0.0011	0.0011	0.0001	0.0002	3.827e-05	0	7.598e-05	0.0003	0.0009	0.0006	0.0013	0.0004	0.0004	0.0004	0.0004	0.0008	0.0003	0.0003	0.0006	0.0006	0.0001	0	6.533e-05	0	0	9.409e-05	0	0.0008	0	0.0008	0.091	0.31834	T	0.212	0.32461	T	0.112	0.61523	B	0.082	0.61644	B	0.000003	0.62929	D	0.062767	0.999951	0.52396	D	2.49	0.72568	M	-1.55	0.81815	D	-1.78	0.42001	N	0.688	0.73735	0.249	0.86736	D	0.639	0.87380	D	10	0.18315339	0.33629	T	0.211825	0.87324	D	0.426	0.73372	.	.	0.74197969746	0.73966	0.7743501428180213	0.77385	.	.	0.497934222221	0.38540	T	0.140774	0.47548	T	-0.208259	0.19625	T	-0.096553	0.63663	T	0.115547396242619	0.13990	T	0.935806	0.76011	D	0.20867115	0.43111	0.22569644	0.47522	0.23128064	0.45897	0.2372059	0.49011	-13.217	0.90584	D	0.2944103503992749	0.39128	0.082	0.10256	B	.;.;.;.	.;.;.;.	3.911785	0.57055	23.8	0.98463541449045411	0.41768	0.97377	0.74364	D	AEFGBCI	0.752865	0.69323	D	0.326175396475181	0.57494	3.917089	0.398752396403318	0.61487	4.349578	0.999980381730676	0.51787	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.82	4.82	0.61641	6.831000	0.75116	5.873000	0.50556	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.777000	0.36790	0.0:1.0:0.0:0.0	17.501	0.87628	.	.	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1203.98	33	chr20	63680717	.	C	G	1203.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.440e+00;DP=776;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.33;ReadPosRankSum=-5.600e-02;SOR=0.743	GT:AD:DP:GQ:PL	0/1:31,53:84:99:1218,0,674	20	0	1	0
chr20	63873800	63873800	G	A	exonic	TPD52L2	.	nonsynonymous SNV	TPD52L2:NM_001243891:exon3:c.G223A:p.V75M	.	.	437	1059	24	2	0	28	0.0130475	.	.	717150	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.14	T	0.952	P	0.527	P	0.000	N	1.000	D	2.19	M	1.62	T	-1.061	T	0.093	T	0.332	0.828	8.338	1.56	0.079	3.970	9.849	0.163	.	0.0007	0.00459265	0.0072	0.0002	0.0024	0.0007	0	0.0016	0.0092	0.0378	0.0034993	541	154602	rs146221163	0.0021	0.0022	0.0014	0.0029	0.0269	0.0021	0.0021	0.0259	0.0255	0.0002	0.0011	0.0007	0.0001	3.837e-05	0.0076	0.0006	0.0021	0.0269	0.0016	0.0016	0.0011	0.0020	0.0280	0.0014	0.0013	0.0242	0.0227	0.0002	0	0.0018	0.0006	0	0	0	0.0009	0.0028	0.0280	0.117	0.29420	T	0.116	0.50514	T	0.538	0.37867	P	0.409	0.44752	B	0.000017	0.62929	N	0.067765	0.999073	0.50595	D	1.745	0.45235	L	1.62	0.28189	T	-2.15	0.55983	N	0.326	0.36674	-1.0613	0.11434	T	0.093	0.35363	T	10	0.005977899	0.00134	T	.	.	.	0.163	0.42028	.	.	0.110392049598	0.10638	0.525710121982997	0.52495	0.192320976914	0.21557	0.372602283955	0.21205	T	0.097271	0.39992	T	-0.466617	0.00893	T	-0.423442	0.30682	T	0.0281337036299695	0.01708	T	0.876112	0.60266	D	0.050308015	0.09069	0.11707527	0.28264	0.050308015	0.09068	0.11707527	0.28263	-4.791	0.58017	T	.	.	0.117	0.39425	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.643460	0.34402	19.62	0.97310466524508998	0.33322	0.77468	0.38093	D	ALL	0.469324	0.51575	N	-0.35025809430402	0.27263	1.494361	-0.417033629949026	0.24497	1.341769	0.999999988724354	0.74766	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	5.65	1.56	0.22423	4.167000	0.57999	2.297000	0.31994	-0.202000	0.08738	1.000000	0.71638	0.993000	0.31925	0.816000	0.38450	0.2839:0.0:0.7161:0.0	9.849	0.40212	.	.	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.02381	445.98	33	chr20	63873800	.	G	A	445.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.600;DP=746;ExcessHet=0.0000;FS=1.175;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.74;ReadPosRankSum=0.828;SOR=0.473	GT:AD:DP:GQ:PL	0/1:32,19:51:99:460,0,898	20	0	1	0
chr21	10578519	10578519	A	C	exonic	TPTE	.	nonsynonymous SNV	TPTE:NM_001290224:exon12:c.A527C:p.Q176P	.	.	514	1007	1	0	0	1	0.000496278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.23	B	0.158	B	0.000	U	1.000	N	0.955	L	-1.98	D	-0.562	T	0.388	T	0.116	0.825	8.322	2.07	1.204	2.887	8.089	0.247	0.000653193414504	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs571590085	3.632e-05	0.0001	3.955e-05	3.306e-05	0.0010	2.833e-05	2.569e-05	0.0003	0.0002	2.995e-05	0.0001	0.0003	0	0	0.0010	2.879e-05	4.986e-05	0	3.281e-05	0.0001	2.569e-05	4.025e-05	6.532e-05	1.26e-05	7.97e-06	1.171e-05	6.25e-06	0	0	6.532e-05	0.0003	0	0	0	4.41e-05	0	0	.	.	.	0.116	0.36497	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	0.58458	.	.	.	.	.	.	.	0.5808859	0.65843	D	.	.	.	.	.	.	.	.	.	0.9954557789636597	0.99542	.	.	.	.	.	0.48404	0.81152	T	.	.	.	.	.	.	.	.	.	0.872813	0.58002	D	.	.	.	.	.	.	.	.	-9.694	0.74407	D	.	.	0.637	0.74190	P	.;.;.;.	.;.;.;.	2.937792	0.39049	20.9	.	.	.	.	.	.	0.631716	0.61259	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.195000	0.58196	5.791000	0.49870	0.359000	0.20063	1.000000	0.71638	1.000000	0.68203	0.035000	0.13729	.	.	.	.	.	.;Dual specificity phosphatase, catalytic domain|Tensin-type phosphatase domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.025	282.33	34	chr21	10578519	.	A	C	282.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.052e+00;DP=962;ExcessHet=0.0000;FS=0.708;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=53.87;MQRankSum=-2.562e+00;QD=1.21;ReadPosRankSum=1.01;SOR=0.805	GT:AD:DP:GQ:PL	0/1:200,33:233:99:296,0,5651	19	0	1	1
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	1.0	D	0.937	D	.	.	1.000	N	1.445	L	1.66	T	-0.997	T	0.095	T	0.13	0.280	5.514	-0.732	-0.424	-1.528	.	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	.	.	.	.	.	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5	80837.62	225	chr21	13610565	.	G	A	80837.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=2.08;DP=4336;ExcessHet=0.5132;FS=0.571;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=53.68;MQRankSum=-8.647e+00;QD=20.17;ReadPosRankSum=-1.350e-01;SOR=0.768	GT:AD:DP:GQ:PL	1/1:0,270:270:99:8612,810,0	6	6	9	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	P	-1.67	N	0.69	T	-1.046	T	0.001	T	0.1	-2.566	0.003	-2.58	-1.089	-2.921	5.628	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	.	.	.;.	.	.	.	.	.	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	0.5	59193.62	215	chr21	13610631	.	A	G	59193.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-3.130e-01;DP=3704;ExcessHet=0.5132;FS=4.353;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=48.41;MQRankSum=-1.386e+01;QD=17.52;ReadPosRankSum=0.974;SOR=1.008	GT:AD:DP:GQ:PL	1/1:0,228:228:99:7015,684,0	6	6	9	0
chr21	13615163	13615163	G	A	exonic	POTED	.	nonsynonymous SNV	POTED:NM_174981:exon2:c.G562A:p.V188I,	.	.	443	970	99	10	0	119	0.057795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.828	P	0.277	B	0.231	N	0.996	P	0.59	N	0.02	T	-0.958	T	0.103	T	0.189	0.879	8.566	0.47	0.155	2.071	3.756	0.122	0.00376332875409	.	.	.	.	.	.	.	.	.	.	0.0017011	263	154602	rs202239184	0	2.067e-05	0	0	.	0	0	.	.	.	.	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	0.28026	T	0.345	0.34477	T	0.828	0.46021	P	0.277	0.40197	B	0.230892	0.15923	N	0.510182	0.996496	0.22997	P	0.6	0.15550	N	0.02	0.62318	T	-0.67	0.19297	N	0.111	0.12484	-0.9580	0.39552	T	0.103	0.37969	T	9	0.14735743	0.27923	T	0.003763	0.08744	T	0.122	0.33800	0.594	0.72371	0.0675242888579	0.06100	0.04725406536774047	0.04668	.	.	0.770040154457	0.77431	T	0.011295	0.10097	T	-0.177465	0.24114	T	-0.492693	0.23110	T	0.224179267883301	0.21671	T	0.772023	0.41691	T	0.041820783	0.06228	0.031511057	0.01751	0.041820783	0.06228	0.031511057	0.01751	-4.42	0.29827	T	.	.	0.083	0.19398	B	.;.	.;.	0.741717	0.11111	7.758	0.90155155682714561	0.19433	0.40751	0.26506	N	AEFI	0.040205	0.05947	N	-0.58706486722076	0.19337	1.011209	-0.717818458711297	0.16516	0.874134	1.57862715642254E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.4	0.47	0.15957	1.445000	0.34690	.	.	-1.674000	0.00795	1.000000	0.71638	0.000000	0.08366	0.012000	0.09680	0.2531:0.0:0.7469:0.0	3.756	0.08111	.	.	Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain;Ankyrin repeat-containing domain|Ankyrin repeat-containing domain|Ankyrin repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	3777.11	39	chr21	13615163	.	G	A	3777.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.61;DP=984;ExcessHet=0.1072;FS=0.414;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.10;MQRankSum=0.715;QD=12.18;ReadPosRankSum=-9.160e-01;SOR=0.725	GT:AD:DP:GQ:PL	0/1:105,95:200:99:2463,0,2731	19	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.053	B	0.007	B	.	.	1.000	N	1.335	L	2.51	T	-0.946	T	0.021	T	0.32	0.122	4.658	2.1	0.975	1.396	3.884	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.5	43117.62	207	chr21	13641414	.	A	G	43117.62	.	AC=21;AF=0.500;AN=42;BaseQRankSum=-1.110e+00;DP=2761;ExcessHet=0.5132;FS=0.565;InbreedingCoeff=0.1429;MLEAC=21;MLEAF=0.500;MQ=58.03;MQRankSum=-1.526e+00;QD=17.27;ReadPosRankSum=0.159;SOR=0.606	GT:AD:DP:GQ:PL	1/1:0,133:133:99:3896,399,0	6	6	9	0
chr21	29321470	29321470	G	A	exonic	BACH1	.	nonsynonymous SNV	BACH1:NM_001186:exon2:c.G190A:p.V64I	.	.	.	.	.	.	.	.	.	.	.	2702281	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.001	B	0.002	B	0.180	N	1.000	N	1.225	L	-0.28	T	-1.032	T	0.140	T	0.159	3.765	19.12	-1.24	-0.498	-0.173	2.630	0.056	0.0165580731146	.	0.000199681	1.65e-05	9.626e-05	0	0.0001	0	0	0	0	1.94e-05	3	154602	rs187935039	1.779e-05	1.779e-05	2.178e-05	1.375e-05	0.0002	1.237e-05	1.051e-05	9.928e-05	7.224e-05	0	0	0	0.0002	0	0	1.439e-05	1.656e-05	1.159e-05	1.313e-05	1.312e-05	0	2.685e-05	0.0004	2.18e-06	8.2e-07	6.832e-05	2.859e-05	0	0	0	0	0.0004	0	0	0	0	0	0.098	0.33923	T	0.064	0.45318	T	0.001	0.07471	B	0.002	0.06944	B	0.179546	0.17141	N	0.569174	1	0.08975	N	2.125	0.59049	M	-0.28	0.67543	T	-0.48	0.20791	N	0.129	0.13484	-1.0320	0.19809	T	0.140	0.45979	T	9	0.042164654	0.02940	T	0.016558	0.37875	T	0.056	0.15993	.	.	0.28297238246	0.27903	0.2516716039038459	0.25081	0.0733449993935	0.08227	0.270244091749	0.06172	T	0.127449	0.45448	T	-0.252633	0.13778	T	-0.419138	0.31174	T	0.0549820326268673	0.06354	T	0.738626	0.36682	T	0.060997225	0.12580	0.0625712	0.12264	0.060997225	0.12579	0.0625712	0.12263	-4.802	0.34615	T	.	.	0.071	0.05188	B	.;.;.;.;.	.;.;.;.;.	1.012523	0.13919	10.48	0.98233101743106632	0.39414	0.21900	0.21563	N	AEFGBCI	0.057381	0.10682	N	-0.908815361541958	0.10635	0.5091522	-0.922665738901022	0.11560	0.589647	0.999994045201919	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.19	-1.24	0.08948	-0.011000	0.12659	0.885000	0.22426	0.676000	0.76740	0.002000	0.15269	0.004000	0.18990	0.990000	0.65344	0.1966:0.2284:0.4572:0.1178	2.630	0.04641	969	0.06854	BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;BTB/POZ domain|BTB/POZ domain|BTB/POZ domain;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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1633.98	37	chr21	29321470	.	G	A	1633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=823;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.85;ReadPosRankSum=-7.180e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/1:50,60:110:99:1648,0,1228	20	0	1	0
chr21	30319785	30319785	G	A	exonic	KRTAP26-1	.	nonsynonymous SNV	KRTAP26-1:NM_203405:exon1:c.C251T:p.T84I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.779	P	0.397	B	0.322	N	1.000	N	0.69	N	3.85	T	-0.957	T	0.011	T	0.126	2.479	14.25	4.19	1.438	1.322	10.026	0.075	0.0114329380368	0.0013	0.000599042	0.0004	0.0040	0	0	0	1.502e-05	0	0	0.0003169	49	154602	rs144508244	7.868e-05	7.867e-05	8.169e-05	7.565e-05	0.0028	6.668e-05	6.202e-05	0.0023	0.0022	0.0028	8.951e-05	0	0	0	0	5.396e-06	0.0002	0	0.0009	0.0009	0.0010	0.0009	0.0033	0.0008	0.0008	0.0029	0.0027	0.0033	0	0.0001	0	0	0	0	0	0.0014	0	0.005	0.63226	D	0.12	0.35970	T	0.779	0.44223	P	0.397	0.44399	B	0.321798	0.14259	N	0.647778	1	0.08975	N	1.825	0.47900	L	3.85	0.03650	T	-2.69	0.57435	D	0.069	0.04188	-0.9573	0.39681	T	0.011	0.04321	T	10	0.006137103	0.00138	T	0.011433	0.29047	T	0.075	0.21907	.	.	0.498960498335	0.49530	0.06866944237473448	0.06804	0.635579275713	0.57371	0.28102633357	0.07636	T	0.005461	0.04911	T	-0.609502	0.00128	T	-0.64944	0.08993	T	0.0734905787304937	0.09133	T	0.375962	0.08979	T	0.1402113	0.32358	0.20780501	0.45055	0.1402113	0.32358	0.20780501	0.45054	-5.331	0.40249	T	.	.	0.215	0.44423	B	.	.	2.083655	0.26501	17.14	0.99821778004860384	0.90414	0.08007	0.13986	N	AEFBI	0.045922	0.07565	N	-0.301837793143523	0.29079	1.609412	-0.356723140083105	0.26302	1.451891	0.0167209429674288	0.12863	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	4.19	0.48645	1.348000	0.33592	1.760000	0.28546	0.590000	0.31872	0.003000	0.16062	0.010000	0.20010	0.644000	0.32530	0.0961:0.0:0.9039:0.0	10.026	0.41243	254	0.90023	.	.	.	.	.	.	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	0.02381	2084.98	35	chr21	30319785	.	G	A	2084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.078e+00;DP=1085;ExcessHet=0.0000;FS=1.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=-1.495e+00;SOR=0.546	GT:AD:DP:GQ:PL	0/1:76,80:156:99:2099,0,2283	20	0	1	0
chr21	34370789	34370789	A	G	exonic	KCNE2	.	nonsynonymous SNV	KCNE2:NM_172201:exon2:c.A311G:p.E104G,	Atrial fibrillation, familial, 4;Long QT syndrome 6, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.008	B	0.009	B	0.002	N	0.944	D	1.39	L	-3.06	D	-0.002	T	0.602	D	0.236	3.284	17.03	3.15	0.962	3.914	6.999	0.301	0.0695537225269	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs113659353	2.736e-06	2.736e-06	0	5.5e-06	2.987e-05	6.4e-07	4.3e-07	.	.	2.987e-05	0	0	0	0	0	0	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.034	0.52727	D	0.008	0.14655	B	0.009	0.14300	B	0.001589	0.38554	N	0.181218	0.94431	0.37444	D	2.25	0.63811	M	-3.06	0.92457	D	-2.81	0.59389	D	0.185	0.20129	-0.0024	0.82206	T	0.602	0.85847	D	10	0.22957742	0.39889	T	0.069554	0.70760	D	0.301	0.62179	0.344	0.33788	0.90077798492	0.89979	0.6816867385461418	0.68107	0.136271015109	0.15368	0.322883605957	0.13857	T	0.525079	0.83462	D	0.0537718	0.58826	T	-0.160537	0.58304	T	0.976049780845642	0.71204	D	0.553245	0.19112	T	0.1419579	0.32688	0.24137196	0.49533	0.1419579	0.32688	0.24137196	0.49532	-4.369	0.29133	T	.	.	0.083	0.09288	B	.	.	3.024659	0.40491	21.2	0.99758278504333131	0.84851	0.95802	0.66216	D	AEFBI	0.453810	0.50679	N	-0.158745613677541	0.34863	1.995441	-0.0242172263605476	0.38625	2.27825	0.999955470877274	0.48110	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.66	3.15	0.35301	3.914000	0.56114	6.801000	0.56627	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.7753:0.148:0.0767:0.0	6.999	0.23978	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	5848.98	33	chr21	34370789	.	A	G	5848.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.344e+00;DP=1192;ExcessHet=0.0000;FS=1.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-7.920e-01;SOR=0.869	GT:AD:DP:GQ:PL	0/1:244,226:470:99:5863,0,6383	20	0	1	0
chr21	36369848	36369848	G	A	exonic	MORC3	.	nonsynonymous SNV	MORC3:NM_001320445:exon14:c.G2267A:p.S756N	.	.	433	1087	2	0	0	2	0.000919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.011	B	0.014	B	0.603	N	1.000	N	0.97	L	2.59	T	-1.046	T	0.032	T	0.072	1.696	11.63	-5.34	-1.019	-0.506	24.772	0.085	0.00372032936774	.	.	7.49e-05	0	0	0	0.0002	7.534e-05	0	0.0002	6.47e-05	10	154602	rs757924042	3.012e-05	3.01e-05	2.861e-05	3.165e-05	0.0017	2.283e-05	2.034e-05	0.0009	0.0007	0	0	0	0	0	0.0017	2.248e-05	3.312e-05	8.122e-05	1.314e-05	1.313e-05	2.569e-05	0	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	0.086	0.32610	T	0.486	0.11691	T	0.011	0.15914	B	0.014	0.16862	B	0.602801	0.10942	N	0.831646	1	0.08975	N	2.045	0.56016	M	2.59	0.13317	T	-0.99	0.26200	N	0.103	0.08646	-1.0465	0.15389	T	0.032	0.13635	T	10	0.048582226	0.04327	T	0.00372	0.08620	T	0.085	0.24743	0.15	0.05339	0.286597616719	0.28274	0.05164462920153917	0.05106	0.172711031265	0.19441	0.307570368052	0.11540	T	0.121026	0.44369	T	-0.480239	0.00737	T	-0.724952	0.04560	T	0.0199817273198078	0.00699	T	0.676632	0.28519	T	0.0810129	0.18593	0.13494971	0.32325	0.0810129	0.18592	0.13494971	0.32324	-5.523	0.42082	T	.	.	0.087	0.11076	B	.	.	0.451806	0.08217	4.957	0.87602656216585228	0.17346	0.09927	0.15570	N	AEFBCI	0.039104	0.05634	N	-1.18624990215822	0.05207	0.2368408	-1.21551703312652	0.05660	0.270305	0.991820305676819	0.32621	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.56	-5.34	0.02496	-0.529000	0.06273	0.314000	0.17114	-0.148000	0.12190	0.000000	0.06391	0.015000	0.20450	0.989000	0.64315	0.0:0.7878:0.1386:0.0736	24.772	0.99992	957	0.09725	.	.	.	.	.	.	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	1	0	0	0	0.02381	2733.98	43	chr21	36369848	.	G	A	2733.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.160e-01;DP=960;ExcessHet=0.0000;FS=0.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-8.610e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/1:110,112:222:99:2748,0,2747	20	0	1	0
chr21	38818484	38818484	C	A	exonic	ETS2	.	nonsynonymous SNV	ETS2:NM_005239:exon7:c.C649A:p.L217I	.	.	421	1086	14	1	0	16	0.00731261	.	.	717205	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.79	T	0.966	D	0.505	P	0.084	N	0.994	D	2.125	M	2.48	T	-0.826	T	0.122	T	0.239	2.120	13.05	5.28	1.609	2.340	12.211	0.128	.	0.0082	0.00339457	0.0073	0.0014	0.0054	0	0.0024	0.0113	0.0088	0.0016	0.0070439	1089	154602	rs61735785	0.0095	0.0095	0.0098	0.0092	0.0128	0.0093	0.0093	0.0108	0.0107	0.0013	0.0061	0.0137	0	0.0034	0.0128	0.0109	0.0102	0.0015	0.0080	0.0080	0.0085	0.0074	0.0121	0.0076	0.0074	0.0114	0.0111	0.0017	0.0998	0.0075	0.0164	0	0.0021	0.0170	0.0121	0.0095	0.0021	0.583	0.59928	T	0.343	0.22694	T	0.908	0.56202	P	0.277	0.47795	B	0.084067	0.02385	N	2.205300	0.994471	0.42296	D	2.32	0.66415	M	2.48	0.41392	T	-0.36	0.14193	N	0.4	0.44187	-0.8262	0.53544	T	0.122	0.42336	T	10	0.005959183	0.00134	T	.	.	.	0.128	0.35103	.	.	0.469009519116	0.46530	0.5800921711861871	0.57938	0.351789939051	0.37014	0.452042520046	0.32223	T	0.377928	0.74101	T	-0.475445	0.00787	T	-0.445332	0.28213	T	0.0194060962257557	0.00645	T	0.646135	0.25753	T	0.08174536	0.18799	0.045773793	0.06232	0.08174536	0.18798	0.045773793	0.06231	-4.283	0.27938	T	.	.	0.077	0.06295	B	.;.;.	.;.;.	1.887303	0.23973	16.22	0.98906433892934353	0.48290	0.92726	0.56396	D	AEFDGBCI	0.570496	0.57485	D	0.108724464065966	0.46869	2.920821	0.120562674685189	0.45603	2.820458	0.999999997871774	0.74766	0.67177	0.52595	0	0.653731	0.59785	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	6.16	5.28	0.74118	2.587000	0.45793	4.072000	0.41672	0.599000	0.40250	0.982000	0.35529	0.999000	0.35428	0.045000	0.14751	0.1305:0.7322:0.1373:0.0	12.211	0.53688	566	0.70798	.;.;.	.	.	.	.	.	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	0.02381	2548.98	36	chr21	38818484	.	C	A	2548.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.852;DP=957;ExcessHet=0.0000;FS=2.258;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-1.860e-01;SOR=0.555	GT:AD:DP:GQ:PL	0/1:123,106:231:99:2563,0,2999	20	0	1	0
chr21	41237583	41237583	G	A	exonic	BACE2	.	nonsynonymous SNV	BACE2:NM_012105:exon3:c.G472A:p.V158I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.932	P	0.373	B	0.000	D	0.963	D	1	L	0.89	T	-1.076	T	0.078	T	0.164	2.627	14.74	3.83	0.663	2.119	9.405	0.066	0.00787183352774	.	.	0.0001	0	0.0003	0	0	1.5e-05	0	0.0007	0.00011	17	154602	rs781596817	6.977e-05	6.977e-05	4.492e-05	9.488e-05	0.0005	5.846e-05	5.457e-05	0.0004	0.0004	0	0.0002	0	0.0001	0	0.0003	3.237e-05	3.311e-05	0.0005	1.971e-05	1.97e-05	0	4.035e-05	0.0002	5.24e-06	2.45e-06	.	.	2.411e-05	0	0	0	0	0	0	1.47e-05	0	0.0002	0.1	0.36113	T	0.213	0.33000	T	0.384	0.51990	B	0.288	0.43650	B	0.000113	0.50451	D	0.133495	0.963407	0.38346	D	1.015	0.25427	L	0.89	0.45636	T	0.52	0.03191	N	0.323	0.36779	-1.0762	0.08104	T	0.078	0.31103	T	10	0.11941522	0.22597	T	0.007872	0.20877	T	0.066	0.19193	0.604	0.73586	0.361733483669	0.35779	0.43160044235867745	0.43077	0.581922307668	0.53967	0.32995352149	0.14928	T	0.132405	0.46248	T	-0.441494	0.01267	T	-0.504359	0.21897	T	0.0593664058021514	0.07068	T	0.937406	0.76468	D	0.07528531	0.16950	0.07005371	0.14837	0.07528531	0.16950	0.07005371	0.14836	-5.191	0.38850	T	.	.	0.087	0.16054	B	.;.;.	.;.;.	1.999009	0.25397	16.75	0.99403923655053084	0.62934	0.85451	0.44585	D	AEFBI	0.250585	0.37061	N	-0.227015821696744	0.32029	1.802019	-0.187119785936583	0.32008	1.816911	0.999997393082343	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.85	3.83	0.43287	2.171000	0.42080	4.358000	0.43109	0.618000	0.50648	0.979000	0.35152	1.000000	0.68203	0.117000	0.19042	0.0832:0.3823:0.5345:0.0	9.405	0.37620	970	0.06235	Peptidase family A1 domain|Peptidase family A1 domain|Memapsin-like;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	357.98	40	chr21	41237583	.	G	A	357.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.04;DP=748;ExcessHet=0.0000;FS=2.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.17;ReadPosRankSum=-1.769e+00;SOR=1.292	GT:AD:DP:GQ:PL	0/1:43,15:58:99:372,0,1019	20	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.991	D	0.635	P	0.000	D	0.999	D	2.015	M	1.75	T	-1.041	T	0.094	T	0.604	2.253	13.49	4.65	1.348	2.166	10.542	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2368	698.27	35	chr21	41918930	.	C	G	698.27	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.341e+00;DP=1542;ExcessHet=4.7172;FS=85.931;InbreedingCoeff=-0.3046;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=0.977;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,7:89:15:0|1:41918930_C_G:15,0,3189:41918930	10	0	9	2
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.026	B	0.018	B	0.000	N	0.966	N	1.01	L	1.63	T	-1.066	T	0.041	T	0.356	0.961	8.923	-3.89	-0.592	-2.108	7.143	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	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	690.28	68	chr21	41918931	.	C	G	690.28	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-2.016e+00;DP=1649;ExcessHet=4.7172;FS=94.625;InbreedingCoeff=-0.3048;MLEAC=9;MLEAF=0.237;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.977;SOR=9.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:71,7:86:15:.:.:15,0,3114	10	0	9	2
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.993	D	0.796	P	0.000	D	0.845	D	1.01	L	1.45	T	-0.894	T	0.124	T	0.464	3.123	16.44	5.53	2.607	4.539	14.966	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2143	693.88	38	chr21	41918933	.	C	G	693.88	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.962e+00;DP=1518;ExcessHet=4.7172;FS=87.197;InbreedingCoeff=-0.2683;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=0.88;ReadPosRankSum=0.980;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,7:89:15:0|1:41918930_C_G:15,0,3189:41918930	12	0	9	0
chr21	42137640	42137722	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	0	splicing	UMODL1	.	.	.	.	.	432	559	239	60	232	591	0.24306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	10995.83	42	chr21	42137640	.	AGGTGGGTGCGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAAGGTGGGTGTGGAGTGGGGTGGGAGGTGCAGGCTGACAGGAG	A,*	10995.83	.	AC=12,6;AF=0.333,0.167;AN=36;BaseQRankSum=0.289;DP=1413;ExcessHet=0.4630;FS=5.341;InbreedingCoeff=0.1091;MLEAC=13,7;MLEAF=0.361,0.194;MQ=59.77;MQRankSum=-6.950e-01;QD=17.79;ReadPosRankSum=0.619;SOR=0.413	GT:AD:DP:GQ:PL	1/2:0,15,28:43:99:1539,971,1125,598,0,1274	5	1	7	3
chr21	44539415	44539415	T	C	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.A736G:p.M246V,	.	.	376	1144	2	0	0	2	0.000873362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.98	N	5.15	T	-1.006	T	0.006	T	0.115	-1.254	0.050	2.13	1.018	-0.139	8.161	0.039	.	0.0024	0.0061901	0.0027	0.0049	0.0025	0.0188	0.0003	0.0009	0.0011	0.0013	0.0024062	372	154602	rs147442908	0.0015	0.0015	0.0015	0.0014	0.0239	0.0014	0.0014	0.0226	0.0221	0.0056	0.0027	0.0040	0.0239	0.0002	0.0005	0.0005	0.0021	0.0008	0.0030	0.0030	0.0030	0.0029	0.0181	0.0028	0.0027	0.0151	0.0140	0.0058	0	0.0031	0.0052	0.0181	9.508e-05	0.0068	0.0005	0.0048	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.775	0.00026	N	5.15	0.01198	T	2.07	0.00375	N	0.05	0.02179	-1.0060	0.28156	T	0.006	0.02055	T	9	0.004144132	0.00082	T	.	.	.	0.084	0.24469	.	.	0.117506650769	0.11410	0.029886105557788454	0.02937	0.152316728517	0.17189	0.225969851017	0.01683	T	0.001636	0.01065	T	-0.715362	0.00030	T	-0.786065	0.02275	T	0.0058953990354577	0.00065	T	0.0382962	0.00264	T	0.046574116	0.07817	0.07941723	0.17877	0.046574116	0.07817	0.07941723	0.17877	2.894	0.00023	T	.	.	0.046	0.00054	B	.	.	-1.031802	0.00727	0.022	0.28855652487680794	0.01502	0.00040	0.00335	N	AEFBI	0.017418	0.00455	N	-1.07245889153555	0.07154	0.3314993	-1.06991178548566	0.08298	0.4073496	0.00117747460650372	0.08304	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.97	2.13	0.26445	-0.586000	0.05880	-6.102000	0.01496	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7889:0.0:0.2111	8.161	0.30359	970	0.06235	.	.	.	.	.	.	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	0.04762	8478.11	92	chr21	44539415	.	T	C	8478.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.80;DP=1975;ExcessHet=0.1072;FS=8.905;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.49;MQRankSum=-8.880e-01;QD=22.79;ReadPosRankSum=0.377;SOR=0.409	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,109:197:99:0|1:44539410_A_G:4238,0,3341:44539410	19	0	2	0
chr21	44558616	44558616	T	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	99920.15	123	chr21	44558616	.	T	G,*	99920.15	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=0.718;DP=2610;ExcessHet=0.3300;FS=0.992;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.23;MQRankSum=-1.477e+00;QD=30.87;ReadPosRankSum=0.806;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,117,0:117:99:1|1:44558616_T_G:5213,352,0,5213,352,5213:44558616	0	17	3	0
chr21	44558620	44558620	G	0	exonic	KRTAP10-3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9048	97991.64	126	chr21	44558620	.	G	A,*	97991.64	.	AC=38,1;AF=0.905,0.024;AN=42;BaseQRankSum=1.53;DP=2612;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=38,1;MLEAF=0.905,0.024;MQ=59.24;MQRankSum=-8.900e-01;QD=32.40;ReadPosRankSum=0.868;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,118,0:118:99:1|1:44558616_T_G:5256,355,0,5256,355,5256:44558616	0	17	3	0
chr21	46132277	46132277	G	A	exonic	COL6A2	.	nonsynonymous SNV	COL6A2:NM_001849:exon28:c.G2785A:p.V929M,	Bethlem myopathy 1, Autosomal recessive, Autosomal dominant;Ullrich congenital muscular dystrophy 1, Autosomal recessive, Autosomal dominant	YES	0	1514	8	0	0	8	0.00263505	.	.	269955	Ullrich_congenital_muscular_dystrophy_1A|Collagen_6-related_myopathy|not_provided|Bethlem_myopathy_1A	MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.988	D	0.016	U	1.000	D	2.14	M	-1.16	T	0.061	D	0.569	D	0.664	1.506	10.98	4.18	1.891	4.938	12.418	0.473	0.251040784075	0.0002	0.000199681	0.0002	0	0.0001	0	0	0.0002	0	0.0004	0.0001552	24	154602	rs145527336	0.0002	0.0002	0.0002	0.0002	0.0036	0.0001	0.0001	0.0024	0.0021	0.0001	0.0003	0	0	0	0.0036	0.0001	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	9.696e-05	0.0002	0.0002	4.813e-05	0	0.0001	0	0	0	0	0.0003	0	0.0002	0.081	0.33418	T	0.123	0.35582	T	1.0	0.90584	D	0.988	0.77976	D	0.015856	0.28136	U	0.313934	0.999999	0.58761	D	2.32	0.66415	M	-1.16	0.78082	T	-0.41	0.14000	N	0.634	0.64733	0.061	0.83442	D	0.569	0.84381	D	10	0.5866204	0.66147	D	0.251041	0.89116	D	0.473	0.76619	.	.	0.846654732685	0.84518	0.778402159540574	0.77790	0.604138712811	0.55366	0.716341853142	0.69514	T	0.170631	0.51844	T	-0.0836815	0.39113	T	-0.0340358	0.68101	D	0.196997237944013	0.20249	T	0.784022	0.42156	T	0.06302385	0.13228	0.06363048	0.12633	0.06302385	0.13227	0.06363048	0.12633	-2.237	0.04224	T	0.4558369978791214	0.53885	0.484	0.63867	A	.	.	4.136798	0.61946	24.4	0.98036681249520852	0.37758	0.94361	0.60920	D	AEFDBCI	0.821846	0.74231	D	0.284783801192554	0.55377	3.701778	0.144463669919768	0.46849	2.924302	0.99999999989157	0.74766	0.718356	0.82227	0	0.547309	0.14657	0	0.570548	0.19454	0	0.567892	0.33627	0	.	.	4.18	4.18	0.48473	5.423000	0.66197	6.509000	0.55803	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	0.0:0.1695:0.8305:0.0	12.418	0.54839	982	0.03397	von Willebrand factor, type A|von Willebrand factor, type A|von Willebrand factor, type A	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1944.98	36	chr21	46132277	.	G	A	1944.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=1242;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.65;ReadPosRankSum=0.499;SOR=0.662	GT:AD:DP:GQ:PL	0/1:93,74:167:99:1959,0,3593	20	0	1	0
chr21	46266123	46266123	A	C	exonic	MCM3AP	.	nonsynonymous SNV	MCM3AP:NM_003906:exon11:c.T2833G:p.L945V,	.	.	419	1074	29	0	0	29	0.0133211	.	.	717271	MCM3AP-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.19	T	0.146	B	0.09	B	0.001	N	1.000	N	1.905	M	3.8	T	-1.016	T	0.010	T	0.06	0.339	5.837	-3.91	-0.998	0.750	8.573	0.034	.	0.0047	0.00279553	0.0064	0.0008	0.0122	0	0.0089	0.0079	0.0188	0.0015	0.0059443	919	154602	rs144904756	0.0062	0.0062	0.0061	0.0063	0.0259	0.0061	0.0060	0.0225	0.0212	0.0014	0.0082	0.0256	0	0.0092	0.0259	0.0060	0.0079	0.0013	0.0049	0.0049	0.0048	0.0050	0.0057	0.0046	0.0045	0.0052	0.0050	0.0014	0	0.0053	0.0265	0	0.0094	0.0136	0.0057	0.0090	0.0006	0.357	0.12032	T	0.095	0.39492	T	0.146	0.27821	B	0.09	0.29851	B	0.001426	0.39044	N	0.219769	1	0.08975	N	1.905	0.50856	L	3.8	0.03781	T	-0.6	0.17834	N	0.442	0.48780	-1.0162	0.24948	T	0.010	0.03673	T	10	0.003976971	0.00077	T	.	.	.	0.034	0.08419	.	.	0.240615537116	0.23683	0.23897188706661074	0.23811	0.241407247156	0.26664	0.35556179285	0.18738	T	0.089058	0.38292	T	-0.672393	0.00053	T	-0.733917	0.04152	T	0.00493454904149325	0.00053	T	0.715328	0.32778	T	0.02376417	0.01144	0.034527432	0.02536	0.031549335	0.03014	0.034527432	0.02535	-5.563	0.42453	T	.	.	0.081	0.08081	B	.;.	.;.	0.158927	0.05500	1.963	0.68637270778372683	0.08720	0.29821	0.23922	N	AEFDBCI	0.106285	0.21211	N	-1.07576092996927	0.07092	0.3284427	-1.17687587523784	0.06297	0.3027039	0.742497390098923	0.23234	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.67	-3.91	0.03892	0.808000	0.26813	0.308000	0.17052	-0.208000	0.08445	0.158000	0.23769	0.000000	0.08366	0.438000	0.27627	0.412:0.1217:0.4664:0.0	8.573	0.32744	952	0.10565	Proteasome component (PCI) domain;Proteasome component (PCI) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1534.98	36	chr21	46266123	.	A	C	1534.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.604;DP=887;ExcessHet=0.0000;FS=0.737;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.35;ReadPosRankSum=-1.910e-01;SOR=0.809	GT:AD:DP:GQ:PL	0/1:48,59:107:99:1549,0,1205	20	0	1	0
chr21	46287125	46287125	-	A	splicing	YBEY	NM_001314026:exon2:c.210+2->A;NM_001006114:exon2:c.210+2->A;NM_001314022:exon2:c.210+2->A;NM_001314025:exon2:c.210+2->A;NM_058181:exon2:c.210+2->A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007684	20	26028	rs530846715	0.0005	0.0032	0.0004	0.0005	0.0018	0.0004	0.0004	0.0014	0.0012	0.0018	0.0010	0.0006	0.0015	0.0004	0.0012	0.0003	0.0005	0.0012	0.0005	0.0005	0.0004	0.0005	0.0013	0.0004	0.0003	0.0010	0.0009	0.0012	0	6.661e-05	0	0.0008	0.0002	0	7.419e-05	0.0005	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	8455.27	32	chr21	46287125	.	T	TAAAAAA,TAAAAA,TA	8455.27	.	AC=7,7,1;AF=0.167,0.167,0.024;AN=42;BaseQRankSum=-1.320e+00;DP=957;ExcessHet=0.1361;FS=1.223;InbreedingCoeff=0.2741;MLEAC=7,7,1;MLEAF=0.167,0.167,0.024;MQ=60.00;MQRankSum=0.00;QD=21.35;ReadPosRankSum=-9.300e-02;SOR=0.767	GT:AD:DP:GQ:PL	0/2:24,0,17,0:43:99:635,718,1554,0,885,977,718,1554,885,1554	10	0	3	0
chr21	46334440	46334440	T	C	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_006031:exon3:c.T311C:p.L104P,	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.0	B	0.0	B	.	.	1.000	N	0.805	L	4.73	T	-0.906	T	0.004	T	0.115	0.071	4.384	-1.3	-0.339	-0.267	1.424	0.003	0.000946260008969	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.722e-06	0	8.993e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.993e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.048	0.48594	D	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999999	0.08975	N	1.355	0.33814	L	4.73	0.01620	T	-0.51	0.15986	N	0.142	0.14196	-0.9062	0.47308	T	0.004	0.01330	T	9	0.051737458	0.05101	T	9.46E-4	0.00934	T	0.003	0.00094	0.25	0.18757	0.168933306366	0.16529	0.0935148673327459	0.09283	0.440386559011	0.44048	0.441265195608	0.30750	T	0.023833	0.18124	T	-0.322477	0.06697	T	-0.700993	0.05771	T	0.0474042384630602	0.05037	T	0.274073	0.04660	T	0.06780605	0.14717	0.09035257	0.21183	0.06780605	0.14716	0.09035257	0.21183	-3.998	0.23774	T	.	.	0.078	0.06849	B	.	.	-0.121766	0.03515	0.665	0.52953166152778297	0.04846	0.00507	0.02380	N	AEFDGBCI	0.018636	0.00580	N	-1.38355956284628	0.02792	0.1237886	-1.48967170966429	0.02428	0.1116697	0.999553778650503	0.40362	0.706548	0.73137	0	0.697927	0.68747	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	1.35	-1.3	0.08777	-0.115000	0.10713	-4.971000	0.01904	-0.309000	0.06099	0.001000	0.13787	0.000000	0.08366	0.005000	0.06747	0.3281:0.2993:0.0:0.3725	1.424	0.02179	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	2586.98	36	chr21	46334440	.	T	C	2586.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.674e+00;DP=919;ExcessHet=0.0000;FS=5.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=0.296;SOR=0.411	GT:AD:DP:GQ:PL	0/1:99,99:198:99:2601,0,2730	20	0	1	0
chr22	18608148	18608148	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G3287A:p.R1096H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.003	B	0.001	B	0.311	N	0.994	N	-0.41	N	1.53	T	-0.979	T	0.026	T	0.101	-0.946	0.349	-0.716	-0.321	-0.811	7.837	0.005	0.00264991276271	.	0.000199681	0.0003	0	0	0	0	0.0003	0	0.0005	3.84e-05	1	26028	rs539354043	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	7.659e-05	0.0002	0.0002	0.0001	9.988e-05	0.0002	9.915e-05	0.0001	9.038e-05	0.0001	0.0002	6.042e-05	4.908e-05	5.883e-05	4.269e-05	2.406e-05	0	0.0002	0	0	9.413e-05	0	0.0001	0.0005	0.0002	.	.	.	0.614	0.07592	T	.	.	.	.	.	.	0.310805	0.14437	N	0.676525	0.993673	0.23669	N	-0.6	0.02229	N	.	.	.	.	.	.	0.056	0.02759	-0.9793	0.35162	T	0.026	0.11353	T	10	0.012682825	0.00272	T	0.00265	0.05406	T	.	.	.	.	0.101711395817	0.09552	0.27667976117611026	0.27580	.	.	0.515598058701	0.41007	T	0.001152	0.00660	T	-0.537961	0.00345	T	-0.707391	0.05431	T	0.00705756060779095	0.00080	T	0.333267	0.07048	T	0.027892148	0.02046	0.032174613	0.01913	0.027892148	0.02046	0.032174613	0.01913	-2.53	0.05990	T	.	.	0.083	0.09045	B	.	.	0.064385	0.04743	1.370	0.75520030019856155	0.11107	0.01666	0.05334	N	AEFDBI	0.036407	0.04845	N	-1.51202757115493	0.01770	0.07753528	-1.45510153314119	0.02724	0.1258216	1.23710789104603E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.42	-0.716	0.10647	-0.312000	0.08153	-3.610000	0.02659	-0.761000	0.03509	0.014000	0.18986	0.000000	0.08366	0.584000	0.30992	0.0:0.3554:0.0:0.6446	7.837	0.28537	866	0.32446	Fibronectin type III	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1652.98	37	chr22	18608148	.	C	T	1652.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.122e+00;DP=1969;ExcessHet=0.0000;FS=0.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=41.33;MQRankSum=0.638;QD=3.17;ReadPosRankSum=0.794;SOR=0.606	GT:AD:DP:GQ:PL	0/1:417,104:521:99:1667,0,11558	20	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R	.	.	0	170	630	722	0	2074	0.859155	.	.	1159081	Proline_dehydrogenase_deficiency	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.094	N	0.999	P	.	.	-0.92	T	-0.991	T	0.000	T	0.068	-1.216	0.065	2.88	0.250	3.683	6.438	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	1	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.6905	64105.31	193	chr22	18925165	.	A	G	64105.31	.	AC=29;AF=0.690;AN=42;BaseQRankSum=-1.553e+00;DP=3080;ExcessHet=0.2231;FS=0.000;InbreedingCoeff=0.2202;MLEAC=29;MLEAF=0.690;MQ=60.00;MQRankSum=0.00;QD=22.15;ReadPosRankSum=0.574;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,76:76:99:.:.:2231,228,0	3	11	7	0
chr22	20140702	20140702	C	T	exonic	ZDHHC8	.	nonsynonymous SNV	ZDHHC8:NM_001185024:exon6:c.C746T:p.A249V	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.999	D	0.915	D	0.015	N	1.000	D	1.665	L	1.19	T	-0.211	T	0.470	T	0.561	5.040	29.8	4.02	2.515	4.575	15.342	0.213	0.0837550572238	0.0002	.	4.921e-05	0.0002	0.0001	0	0	3.539e-05	0	0	3.23e-05	5	154602	rs138696405	3.429e-05	3.625e-05	3.275e-05	3.585e-05	0.0004	2.638e-05	2.381e-05	6.309e-05	2.602e-05	5.979e-05	4.498e-05	0	2.521e-05	0	0.0004	3.06e-05	0.0001	1.165e-05	3.284e-05	3.283e-05	3.853e-05	2.688e-05	0.0002	1.26e-05	7.98e-06	7.99e-06	2.99e-06	4.822e-05	0	0	0	0	0	0	1.47e-05	0.0005	0.0002	0.016	0.78490	D	0.039	0.69154	D	0.977	0.77913	D	0.484	0.65091	P	0.015195	0.28316	N	0.359988	0.999999	0.58761	D	2.14	0.59869	M	1.19	0.75001	T	-2.5	0.55181	D	0.535	0.72209	-0.2114	0.77377	T	0.470	0.79615	T	10	0.3344469	0.50619	T	0.083755	0.74183	D	0.213	0.50496	.	.	0.255117706274	0.25116	0.8910711311662665	0.89077	2.13696676436	0.95219	0.678158760071	0.64004	T	0.19289	0.54818	T	-0.0850515	0.38890	T	-0.111638	0.62481	T	0.288754461032604	0.24538	T	0.914708	0.76374	D	0.17976676	0.39063	0.20205595	0.44215	0.17976676	0.39063	0.20205595	0.44214	-10.97	0.79494	D	.	.	0.311	0.58114	B	.;.;.	.;.;.	5.110921	0.85445	28.6	0.99940117182342958	0.99767	0.96328	0.68601	D	AEFBI	0.608059	0.59778	D	0.524303319593881	0.68531	5.230059	0.526800815256438	0.69800	5.412255	0.999999997675314	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.11	4.02	0.45968	5.738000	0.68254	5.876000	0.50589	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.8601:0.1399:0.0	15.342	0.74018	687	0.59234	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1314.98	34	chr22	20140702	.	C	T	1314.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.02;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=0.965;SOR=0.758	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1329,0,1040	20	0	1	0
chr22	20566529	20566529	-	CAG	exonic	MED15	.	nonframeshift insertion	MED15:NM_001293236:exon6:c.540_541insCAG:p.Q191_A192insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	4877.26	33	chr22	20566526	.	ACAG	ACAGCAG,A	4877.26	.	AC=5,1;AF=0.119,0.024;AN=42;BaseQRankSum=-6.180e-01;DP=1022;ExcessHet=1.7912;FS=8.693;InbreedingCoeff=-0.1667;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.950e-01;SOR=0.415	GT:AD:DP:GQ:PL	0/1:33,27,0:60:99:947,0,1186,1047,1268,2315	15	0	5	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	738.84	17	chr22	21216084	.	C	T	738.84	.	AC=9;AF=0.250;AN=36;BaseQRankSum=2.32;DP=347;ExcessHet=5.0238;FS=1.528;InbreedingCoeff=-0.3403;MLEAC=10;MLEAF=0.278;MQ=43.88;MQRankSum=-1.754e+00;QD=5.43;ReadPosRankSum=0.080;SOR=0.771	GT:AD:DP:GQ:PL	0/1:11,6:17:99:166,0,263	9	0	9	3
chr22	21957428	21957428	C	T	exonic	TOP3B	.	nonsynonymous SNV	TOP3B:NM_001282112:exon18:c.G2275A:p.E759K	.	.	448	1073	1	0	0	1	0.000465766	.	.	2822014	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.2	T	0.223	B	0.024	B	0.000	D	1.000	D	0.975	L	1.99	T	-1.100	T	0.042	T	0.437	3.055	16.20	4.56	2.350	5.802	17.527	0.109	0.0178152853586	.	0.000599042	0.0010	0.0016	0	0	0	0.0027	0	0	0.0001153	3	26028	rs561936553	0.0013	0.0013	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	0.0002	0.0015	0.0001	2.803e-05	2.046e-05	0.0003	0.0017	0.0012	0	0.0011	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0015	0.0014	0.0002	0	0.0020	0	0	0.0001	0	0.0018	0.0010	0	0.203	0.20154	T	0.337	0.18178	T	0.223	0.30377	B	0.024	0.20255	B	0.000003	0.62929	D	0.101878	1	0.81001	D	1.79	0.46772	L	1.99	0.21666	T	-2.78	0.58896	D	0.407	0.44761	-1.1003	0.04055	T	0.042	0.18076	T	10	0.021692932	0.00524	T	0.017815	0.39666	T	0.109	0.30843	.	.	0.742707857832	0.74039	0.5077489060083656	0.50696	2.09524790985	0.94767	0.711397528648	0.68795	T	0.349259	0.71713	T	-0.405678	0.02124	T	-0.368735	0.37035	T	0.0452197007834911	0.04643	T	0.930207	0.74183	D	0.28763476	0.51773	0.253975	0.51055	0.28763476	0.51773	0.253975	0.51054	-8.642	0.65365	D	.	.	0.401	0.61669	A	.;.	.;.	3.862925	0.56034	23.7	0.99785097048754734	0.87131	0.95003	0.63085	D	AEFGI	0.730157	0.67764	D	0.011107679053147	0.42361	2.550806	0.160970468898298	0.47727	2.998563	0.999999999997056	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	4.56	4.56	0.55644	5.875000	0.69407	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:1.0:0.0:0.0	17.527	0.87700	698	0.58074	.;.	.	.	.	.	.	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	0.02381	412.98	41	chr22	21957428	.	C	T	412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.419e+00;DP=694;ExcessHet=0.0000;FS=1.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=35.45;MQRankSum=0.219;QD=11.80;ReadPosRankSum=1.00;SOR=0.357	GT:AD:DP:GQ:PL	0/1:15,20:35:99:427,0,328	20	0	1	0
chr22	22895477	22895477	C	T	exonic	IGLL5	.	nonsynonymous SNV	IGLL5:NM_001256296:exon2:c.C203T:p.P68L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.99	D	0.882	P	0.001	D	1.000	D	3.66	H	3.97	T	-1.098	T	0.049	T	0.631	2.199	13.31	2.42	1.034	3.293	8.992	0.178	0.0115912132995	7.7e-05	0.000199681	6.633e-05	0	8.685e-05	0.0002	0	7.532e-05	0	0	5.82e-05	9	154602	rs369208897	5.612e-05	5.814e-05	5.039e-05	6.191e-05	0.0045	4.612e-05	4.238e-05	0.0031	0.0027	8.964e-05	4.473e-05	3.832e-05	2.519e-05	7.488e-05	0.0045	3.418e-05	9.943e-05	2.32e-05	3.297e-05	3.288e-05	6.449e-05	0	4.418e-05	1.264e-05	8.01e-06	1.173e-05	6.25e-06	2.415e-05	0	0	0	0	0	0.0037	4.418e-05	0	0	0.012	0.54683	D	0.054	0.47097	T	0.99	0.63424	D	0.882	0.62632	P	0.000887	0.41231	D	0.109197	0.999997	0.81001	D	.	.	.	3.97	0.03326	T	-7.89	0.96166	D	0.563	0.58713	-1.0982	0.04315	T	0.049	0.20829	T	10	0.5641488	0.64955	D	0.011591	0.29367	T	0.178	0.44724	.	.	0.338834610459	0.33488	0.6843961620347288	0.68378	.	.	0.42956122756	0.29148	T	0.154698	0.69037	T	-0.209052	0.19513	T	-0.312364	0.43404	T	0.760242462158203	0.43865	D	0.780122	0.41468	T	0.20914157	0.43171	0.09844852	0.23471	0.20914157	0.43171	0.09844852	0.23470	-10.521	0.76967	D	.	.	0.845	0.79479	P	.;.	.;.	2.803943	0.36894	20.4	0.99294529298493506	0.58397	0.76838	0.37718	D	AEFBCI	0.476597	0.51994	N	0.260810716457428	0.54176	3.583831	0.052162361758481	0.42178	2.546551	0.997190921495129	0.35363	0.634777	0.41761	0	0.643519	0.57511	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	3.44	2.42	0.28720	4.369000	0.59282	0.457000	0.18579	-0.191000	0.09375	0.998000	0.41325	0.051000	0.21832	0.001000	0.02609	0.0:0.8889:0.0:0.1111	8.992	0.35194	988	0.01987	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1198.98	35	chr22	22895477	.	C	T	1198.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.58;DP=810;ExcessHet=0.0000;FS=4.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.985;SOR=1.210	GT:AD:DP:GQ:PL	0/1:46,43:89:99:1213,0,1181	20	0	1	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	.	25	583	905	9	0	923	0.441838	.	.	1196252	not_provided|Chronic_myelogenous_leukemia,_BCR-ABL1_positive	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	9572.82	36	chr22	23311788	.	T	TCCGG	9572.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.511;DP=1943;ExcessHet=20.9642;FS=19.140;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=55.14;MQRankSum=-7.359e+00;QD=5.78;ReadPosRankSum=0.550;SOR=1.916	GT:AD:DP:GQ:PL	0/1:90,12:102:99:233,0,3723	5	0	16	0
chr22	24433568	24433568	T	C	exonic	ADORA2A	.	nonsynonymous SNV	ADORA2A:NM_000675:exon2:c.T164C:p.V55A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.979	D	0.000	D	1.000	D	2.67	M	2.13	T	0.277	D	0.580	D	0.893	4.169	21.6	4.53	1.904	5.968	13.195	0.499	0.0830473752764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.013	0.69154	D	0.999	0.77913	D	0.979	0.74454	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.775	0.80997	M	-0.85	0.74371	T	-3.92	0.74051	D	0.565	0.61172	0.277	0.87179	D	0.580	0.84894	D	10	0.85088205	0.84266	D	0.083047	0.74032	D	0.499	0.78288	0.687	0.82462	0.931330789539	0.93062	0.8840421059844702	0.88372	1.59320647565	0.88566	0.751576542854	0.74678	T	0.730753	0.92462	D	0.35894	0.87170	D	0.277816	0.87003	D	0.990996360778809	0.81240	D	0.948405	0.90777	D	0.81162053	0.84660	0.65176606	0.79622	0.81162053	0.84662	0.65176606	0.79623	-12.939	0.89110	D	.	.	0.757	0.90483	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.831069	0.55380	23.6	0.99779591742384233	0.86693	0.90378	0.51506	D	AEFGBCI	0.733525	0.67993	D	0.627913971391913	0.74947	6.220061	0.529782293350568	0.70004	5.441754	0.999999999991273	0.74766	0.653281	0.48532	0	0.672317	0.65289	0	0.723109	0.80598	0	0.669	0.65921	0	.	.	4.53	4.53	0.55009	6.111000	0.71222	7.817000	0.69620	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.282000	0.24066	0.0:0.0:0.0:1.0	13.195	0.59158	484	0.77165	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2633.98	34	chr22	24433568	.	T	C	2633.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=925;ExcessHet=0.0000;FS=2.949;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=-4.430e-01;SOR=0.897	GT:AD:DP:GQ:PL	0/1:124,105:229:99:2648,0,3148	20	0	1	0
chr22	30636965	30636965	T	G	exonic	SLC35E4	.	nonsynonymous SNV	SLC35E4:NM_001001479:exon1:c.T515G:p.L172R	.	.	417	1101	4	0	0	4	0.00181324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	1.0	D	0.999	D	0.000	D	1.000	D	1.795	L	0.34	T	-0.650	T	0.225	T	0.934	4.441	23.6	5.16	1.950	5.506	14.006	0.453	0.218350224788	0.0048	0.000998403	0.0040	0.0024	0.0021	0	0.0023	0.0063	0	0.0003	0.0036739	568	154602	rs150781327	0.0073	0.0073	0.0075	0.0071	0.0089	0.0072	0.0072	0.0088	0.0087	0.0013	0.0022	0.0032	0	0.0025	0.0007	0.0089	0.0064	0.0004	0.0046	0.0046	0.0049	0.0042	0.0078	0.0043	0.0042	0.0073	0.0071	0.0019	0	0.0025	0.0055	0	0.0020	0	0.0078	0.0028	0	0.011	0.55530	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.92359	D	0.000001	0.84330	D	0.000000	0.999745	0.48716	D	2.095	0.58118	M	0.34	0.58176	T	-3.04	0.62863	D	0.795	0.82257	-0.6503	0.62701	T	0.225	0.58982	T	10	0.013860166	0.00293	T	0.21835	0.87654	D	0.453	0.75279	.	.	0.73424267475	0.73187	0.8167073798119885	0.81626	1.39044836185	0.84968	0.837078273296	0.87648	D	0.375368	0.73898	T	-0.0365948	0.46454	T	0.178523	0.81911	D	0.0190404299862504	0.00613	T	0.90031	0.67676	D	0.7465379	0.80667	0.64187783	0.79074	0.7465379	0.80669	0.64187783	0.79075	-15.272	0.96607	D	.	.	0.718	0.74773	P	.;.;.	.;.;.	5.237128	0.87916	29.4	0.99694801107744269	0.80180	0.88578	0.48571	D	AEFDGBHCI	0.715632	0.66773	D	0.598335569565165	0.73071	5.906532	0.582607069058296	0.73694	6.012482	0.999999999999996	0.74766	0.652421	0.48094	0	0.166054	0.03914	2	0.459711	0.06710	0	0.71	0.69187	0	.	.	5.16	5.16	0.70563	5.526000	0.66832	7.774000	0.68528	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:0.0:1.0	14.006	0.63979	584	0.69381	Sugar phosphate transporter domain;.;Sugar phosphate transporter 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	0.02381	2246.98	44	chr22	30636965	.	T	G	2246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.340e+00;DP=926;ExcessHet=0.0000;FS=1.898;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-8.300e-02;SOR=0.856	GT:AD:DP:GQ:PL	0/1:92,90:182:99:2261,0,2451	20	0	1	0
chr22	36141727	36141727	C	T	exonic	APOL3	.	nonsynonymous SNV	APOL3:NM_145640:exon3:c.G682A:p.A228T	.	.	420	1018	81	3	0	87	0.0409797	.	.	705913	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.38	T	0.788	P	0.397	B	0.363	N	1.000	N	-0.315	N	3.77	T	-0.885	T	0.005	T	0.277	1.181	9.803	-0.313	-0.036	-0.458	8.410	0.074	.	0.0016	0.00479233	0.0070	0.0008	0.0023	0	0.0005	0.0038	0.0133	0.0327	0.0061254	947	154602	rs142057520	0.0045	0.0045	0.0036	0.0055	0.0304	0.0044	0.0044	0.0294	0.0290	0.0005	0.0032	0.0141	7.558e-05	0.0003	0.0213	0.0026	0.0063	0.0304	0.0032	0.0032	0.0029	0.0036	0.0284	0.0030	0.0029	0.0245	0.0231	0.0005	0.0066	0.0036	0.0092	0	0.0005	0.0238	0.0031	0.0071	0.0284	0.169	0.22920	T	0.417	0.14241	T	0.788	0.44546	P	0.397	0.44399	B	0.363263	0.13638	N	0.721939	1	0.08975	N	0.565	0.15224	N	3.77	0.03863	T	-1.02	0.46503	N	0.096	0.07673	-0.8850	0.49357	T	0.005	0.01725	T	10	0.0064413548	0.00146	T	.	.	.	0.074	0.21613	.	.	0.132336055621	0.12781	0.2831281995449334	0.28225	0.165414910226	0.18654	0.269489645958	0.06074	T	0.00967	0.08788	T	-0.61773	0.00114	T	-0.637106	0.09882	T	0.00338090782887009	0.00036	T	0.429857	0.18668	T	0.05087492	0.09258	0.053812385	0.09136	0.05087492	0.09257	0.053812385	0.09136	-5.036	0.42379	T	.	.	0.093	0.24396	B	.;.;.;.;.	.;.;.;.;.	-1.301766	0.00437	0.009	0.79448850851242914	0.12746	0.01032	0.03867	N	AEFDGBI	0.058757	0.11046	N	-1.11327166648079	0.06406	0.2947806	-1.19366562473892	0.06015	0.2882774	0.926062391168158	0.26838	0.67177	0.52595	0	0.702456	0.74545	0	0.491513	0.07944	0	0.635551	0.53088	0	.	.	4.3	-0.313	0.12121	-1.049000	0.03625	-15.654000	0.00347	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6561:0.0:0.3439	8.410	0.31799	507	0.75469	.;.;.;.;.	.	.	.	.	.	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	5152.68	35	chr22	36141727	.	C	T	5152.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-9.920e-01;DP=1479;ExcessHet=0.3300;FS=2.813;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=14.72;ReadPosRankSum=0.535;SOR=0.653	GT:AD:DP:GQ:PL	0/1:68,50:118:99:1401,0,2059	18	0	3	0
chr22	37084728	37084728	G	A	exonic	TMPRSS6	.	nonsynonymous SNV	TMPRSS6:NM_001289000:exon9:c.C1085T:p.T362M	Iron-refractory iron deficiency anemia, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	0.0034	0.082	1018826	Microcytic_anemia	Human_Phenotype_Ontology:HP:0001935,MONDO:MONDO:0001245,MedGen:C5194182	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.915	P	0.132	B	0.686	N	0.589	D	0.805	L	2.2	T	-0.981	T	0.025	T	0.16	2.161	13.18	0.569	0.769	-0.088	5.887	0.088	0.00807032738359	0.0003	0.000199681	0.0003	0.0010	0.0019	0	0	0.0003	0	0.0001	7.12e-05	11	154602	rs144261072	3.482e-05	4.788e-05	3.369e-05	3.597e-05	0.0002	2.665e-05	2.401e-05	4.183e-05	2.541e-05	0.0001	8.225e-05	0	0	0	0.0002	3.414e-05	5.139e-05	1.252e-05	7.221e-05	7.217e-05	5.138e-05	9.4e-05	0.0001	3.968e-05	3.125e-05	4.727e-05	3.045e-05	0.0001	0	6.535e-05	0	0	0	0	7.351e-05	0	0	0.075	0.42487	T	0.119	0.43159	T	0.685	0.44570	P	0.036	0.28873	B	0.685954	0.10217	N	0.848102	0.589429	0.32443	D	1.35	0.33515	L	1.98	0.21865	T	-1.87	0.62008	N	0.126	0.21056	-0.9810	0.34771	T	0.025	0.10464	T	10	0.08075684	0.13143	T	0.00807	0.21393	T	0.088	0.25558	.	.	0.456275507713	0.45249	0.4659409542660365	0.46513	0.171131677844	0.19283	0.44907528162	0.31817	T	0.15633	0.49845	T	-0.229953	0.16656	T	-0.568088	0.15625	T	0.0306694317811229	0.02094	T	0.834017	0.50835	T	0.03768797	0.04878	0.09905658	0.23638	0.03768797	0.04878	0.09905658	0.23638	-6.043	0.46637	T	.	.	0.067	0.02993	B	.;.;.;.;.;.	.;.;.;.;.;.	2.956476	0.39359	20.9	0.98629597937038516	0.43893	0.71848	0.35192	D	AEFDBI	0.527613	0.54948	D	-0.189138258936906	0.33585	1.907111	-0.152963654389686	0.33294	1.903035	3.89259944329898E-4	0.06781	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.25	0.569	0.16525	-0.042000	0.12016	2.114000	0.30678	0.676000	0.76740	0.953000	0.33222	1.000000	0.68203	0.997000	0.79791	0.1758:0.0:0.6732:0.151	5.887	0.18133	951	0.11083	CUB domain|CUB domain;.;.;.;CUB domain|CUB domain;CUB domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1219.98	42	chr22	37084728	.	G	A	1219.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.314;DP=943;ExcessHet=0.0000;FS=5.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=0.731;SOR=1.298	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1234,0,1124	20	0	1	0
chr22	37128173	37128173	C	A	exonic	IL2RB	.	nonsynonymous SNV	IL2RB:NM_000878:exon10:c.G1579T:p.A527S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.001	B	0.001	B	0.320	N	1.000	N	-1.5	N	3.39	T	-0.940	T	0.005	T	0.016	-0.093	3.543	-1.03	-0.466	0.139	6.311	0.004	0.00380737240262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.111e-07	1.3e-05	1.409e-06	0	2.955e-05	0	0	.	.	0	2.955e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.04417	T	0.525	0.10281	T	0.001	0.07471	B	0.001	0.04355	B	0.319562	0.04066	N	1.356300	1	0.08975	N	-0.75	0.01730	N	3.39	0.05710	T	0.8	0.01866	N	0.016	0.00203	-0.9400	0.42616	T	0.005	0.01833	T	10	0.043905318	0.03289	T	0.003807	0.08899	T	0.004	0.00165	0.229	0.15556	0.151262610727	0.14761	0.07957584002001977	0.07892	0.0789173938134	0.08879	0.317214131355	0.12999	T	0.283103	0.65586	T	-0.435792	0.01369	T	-0.863762	0.00804	T	0.0229514520615339	0.01018	T	0.316468	0.06291	T	0.03345967	0.03570	0.0406942	0.04456	0.03345967	0.03570	0.0406942	0.04456	-2.253	0.04305	T	.	.	0.074	0.05188	B	.	.	-0.557863	0.01690	0.122	0.26232493011048824	0.01247	0.00456	0.02204	N	AEFBCI	0.029826	0.02886	N	-1.65970182507821	0.00995	0.04312738	-1.58877233017562	0.01723	0.07835199	0.982542782740176	0.30416	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.85	-1.03	0.09586	0.615000	0.24023	1.575000	0.27440	-0.089000	0.16174	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.4195:0.4619:0.1186:0.0	6.311	0.20374	944	0.12746	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	596.98	36	chr22	37128173	.	C	A	596.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.672e+00;DP=739;ExcessHet=0.0000;FS=1.145;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-5.830e-01;SOR=0.905	GT:AD:DP:GQ:PL	0/1:23,23:46:99:611,0,678	20	0	1	0
chr22	37474643	37474643	G	A	exonic	MFNG	.	nonsynonymous SNV	MFNG:NM_001166343:exon5:c.C640T:p.R214W	.	.	384	1135	3	0	0	3	0.00131984	.	.	2220335	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.993	D	0.000	D	1.000	D	2.985	M	-1.67	D	0.482	D	0.712	D	0.887	4.299	22.5	4.42	1.310	7.002	8.227	0.850	0.15104227352	0.0009	0.000199681	0.0006	0	8.661e-05	0	0	0.0010	0	0	0.0006209	96	154602	rs146856427	0.0009	0.0009	0.0010	0.0009	0.0011	0.0009	0.0009	0.0011	0.0011	0.0001	6.732e-05	7.686e-05	0	7.497e-05	0	0.0011	0.0008	3.485e-05	0.0005	0.0005	0.0006	0.0004	0.0010	0.0004	0.0004	0.0008	0.0008	0.0001	0	0	0	0	9.413e-05	0	0.0010	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000038	0.55875	D	0.071396	0.999998	0.58761	D	3.34	0.90961	M	-1.67	0.82806	D	-7.04	0.94729	D	0.737	0.73735	0.482	0.90295	D	0.712	0.90112	D	10	0.7434108	0.75118	D	0.151042	0.83265	D	0.850	0.95360	.	.	0.768827659172	0.76671	0.8967131102148493	0.89642	0.796604602703	0.66065	0.38546666503	0.23029	T	0.838677	0.96218	D	0.110274	0.65380	D	0.372395	0.91157	D	0.698012828826904	0.40625	D	0.99632	0.98684	D	0.7520747	0.80989	0.5718465	0.75205	0.7520747	0.80990	0.5718465	0.75205	-11.18	0.80636	D	.	.	0.132	0.29505	B	.;.;.	.;.;.	5.740184	0.93325	33	0.99918758518193029	0.98586	0.95879	0.66547	D	AEFDBI	0.832947	0.75123	D	0.768460056401532	0.84100	8.194715	0.690903262273453	0.81686	7.585457	0.997815291703875	0.36062	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.43	4.42	0.52775	7.618000	0.82239	9.845000	0.81950	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0806:0.0:0.764:0.1554	8.227	0.30735	900	0.24599	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	580.98	34	chr22	37474643	.	G	A	580.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.166;DP=788;ExcessHet=0.0000;FS=3.419;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.30;ReadPosRankSum=-3.340e-01;SOR=1.190	GT:AD:DP:GQ:PL	0/1:44,26:70:99:595,0,1162	20	0	1	0
chr22	37724757	37724757	C	T	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C2201T:p.S734F,	Deafness, autosomal recessive 28, Autosomal recessive	.	13	1494	13	0	2	15	0.00433189	.	.	275023	not_specified|TRIOBP-related_disorder|Autosomal_recessive_nonsyndromic_hearing_loss_28|not_provided	MedGen:CN169374|.|MONDO:MONDO:0012355,MedGen:C1853276,OMIM:609823,Orphanet:90636|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.266	B	0.049	B	.	.	1.000	D	2.015	M	1.86	T	-1.065	T	0.062	T	0.422	3.417	17.55	3.82	1.281	0.922	8.926	0.106	0.00750266136549	0.0006	0.000599042	0.0009	0.0001	0.0008	0	0	0.0013	0.0022	0.0004	0.0007374	114	154602	rs199794705	0.0007	0.0007	0.0006	0.0007	0.0154	0.0006	0.0006	0.0128	0.0119	0.0005	0.0006	0.0073	0	1.873e-05	0.0154	0.0004	0.0017	0.0005	0.0007	0.0007	0.0008	0.0007	0.0019	0.0006	0.0006	0.0014	0.0012	0.0001	0	0.0019	0.0075	0	9.498e-05	0.0243	0.0006	0.0019	0.0002	0.001	0.78490	D	0.103	0.38305	T	0.266	0.31648	B	0.049	0.25116	B	.	.	.	.	0.960368	0.26150	N	2.34	0.67151	M	1.86	0.24285	T	-1.79	0.42191	N	0.189	0.20660	-1.0651	0.10526	T	0.062	0.25887	T	9	0.00446856	0.00092	T	0.007503	0.19899	T	0.106	0.30130	.	.	0.322230723748	0.31824	0.060501318535236756	0.05990	0.479026368885	0.46955	0.287078648806	0.08499	T	0.047841	0.27841	T	-0.365772	0.03814	T	-0.388539	0.34724	T	0.0263833864879531	0.01458	T	0.464354	0.13557	T	0.11505772	0.27155	0.1436657	0.34135	0.11158889	0.26369	0.14747931	0.34898	-8.263	0.62848	D	.	.	0.238	0.47161	B	.;.	.;.	2.459228	0.31677	18.81	0.99595983285959933	0.73925	0.06528	0.12540	N	AEFBHCI	0.047250	0.07934	N	-0.616936468899709	0.18434	0.957096	-0.653946880142632	0.18116	0.9664155	0.895552273136308	0.25957	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.586402	0.36253	0	.	.	4.83	3.82	0.43153	0.947000	0.28680	-0.130000	0.11629	0.546000	0.25710	0.221000	0.24547	0.000000	0.08366	0.027000	0.12703	0.0:0.8993:0.0:0.1007	8.926	0.34804	910	0.22284	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0.02381	8726.98	583	chr22	37724757	.	C	T	8726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.732;DP=6515;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=0.738;QD=12.07;ReadPosRankSum=-9.910e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:373,350:723:99:8741,0,9612	20	0	1	0
chr22	39487401	39487401	C	G	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C54G:p.C18W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	0.975	L	.	.	-0.609	T	0.254	T	0.868	2.449	14.15	4.14	1.173	1.610	9.950	0.467	0.00928000961584	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.053e-05	0.0007	6.065e-05	4.032e-05	0.0002	4.107e-05	3.778e-05	7.907e-05	5.367e-05	0.0002	0	0	2.526e-05	1.888e-05	0	5.279e-05	8.352e-05	2.351e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.04	0.26193	L	.	.	.	-2.82	0.98918	D	0.891	0.89020	-0.6091	0.64441	T	0.254	0.62417	T	9	0.9666564	0.96163	D	0.00928	0.24366	T	0.467	0.76222	0.891	0.97367	0.427940940899	0.42412	0.9367500656120937	0.93655	2.60696827796	0.98215	0.840098500252	0.88110	D	0.721539	0.92134	D	0.344	0.86089	D	0.256068	0.85906	D	0.962799787521362	0.66471	D	0.887111	0.61484	D	0.7679175	0.81923	0.73513645	0.84346	0.7679175	0.81924	0.73513645	0.84347	-6.473	0.50078	T	.	.	0.914	0.93695	P	.;.;.	.;.;.	3.752512	0.53796	23.4	0.99322247773775674	0.59431	0.91717	0.54114	D	AEFDBCI	0.909483	0.86618	D	0.365176442442986	0.59547	4.134862	0.35561719820587	0.58846	4.057947	0.999785587597136	0.43007	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.15	4.14	0.47821	1.635000	0.36747	1.717000	0.28234	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.845:0.0:0.155	9.950	0.40802	906	0.23090	.;.;.	.	.	.	.	.	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	0.1	67.98	85	chr22	39487401	.	C	G	67.98	.	AC=1;AF=0.100;AN=10;BaseQRankSum=-1.693e+00;DP=2332;ExcessHet=0.0000;FS=215.651;InbreedingCoeff=-0.2727;MLEAC=2;MLEAF=0.200;MQ=60.00;MQRankSum=0.00;QD=0.54;ReadPosRankSum=0.348;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,24:126:66:0|1:39487401_C_G:66,0,3050:39487401	4	0	1	16
chr22	39487402	39487402	C	G	exonic	MGAT3	.	nonsynonymous SNV	MGAT3:NM_001098270:exon1:c.C55G:p.L19V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.038	B	0.018	B	0.000	D	1.000	D	0	N	.	.	-1.021	T	0.097	T	0.309	1.282	10.19	5.15	2.397	4.639	14.273	0.036	0.000747537211794	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.642e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.423	0.13925	T	1.0	0.92824	T	0.038	0.21002	B	0.018	0.18489	B	0.000129	0.49741	D	0.078023	0.989613	0.40988	D	0.11	0.08516	N	.	.	.	0.31	0.07008	N	0.192	0.21056	-1.0211	0.23357	T	0.097	0.36289	T	9	0.1536076	0.28990	T	7.48E-4	0.00529	T	0.036	0.09122	0.325	0.30711	0.17258766438	0.16869	0.6280749446135879	0.62740	1.11172862533	0.78072	0.70557820797	0.67952	T	0.122074	0.44549	T	-0.0782729	0.39996	T	-0.35021	0.39181	T	0.553379416465759	0.34604	D	0.829517	0.49484	T	0.14126308	0.32557	0.08410163	0.19323	0.14126308	0.32557	0.08410163	0.19322	-4.032	0.24281	T	.	.	0.075	0.50880	B	.;.;.	.;.;.	2.390995	0.30708	18.52	0.94777118921343506	0.25503	0.74216	0.36303	D	AEFDBCI	0.580722	0.58102	D	-0.20713993524983	0.32841	1.856578	0.0291967868770973	0.41076	2.461844	0.999999884736667	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	5.15	5.15	0.70287	4.720000	0.61636	7.504000	0.59526	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8512:0.1488:0.0	14.273	0.65712	906	0.23090	.;.;.	.	.	.	.	.	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	0.02778	53.7	90	chr22	39487402	.	C	G	53.7	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-4.304e+00;DP=1949;ExcessHet=0.0000;FS=215.651;InbreedingCoeff=-0.0704;MLEAC=1;MLEAF=0.028;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.357;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,24:126:66:0|1:39487401_C_G:66,0,3050:39487401	17	0	1	3
chr22	39649563	39649563	G	A	exonic	CACNA1I	.	nonsynonymous SNV	CACNA1I:NM_001003406:exon9:c.G1525A:p.A509T	.	.	361	1152	9	0	0	9	0.00389105	.	.	3195539	CACNA1I-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.26	T	0.903	P	0.128	B	0.000	U	0.991	N	1.1	L	-4.0	D	0.121	D	0.759	D	0.241	1.053	9.300	3.7	1.997	1.281	10.162	0.329	0.059665303737	.	0.000399361	0.0018	0	0.0043	0	0	0	0	0.0042	0.0002393	37	154602	rs538823777	0.0002	0.0002	0.0001	0.0004	0.0033	0.0002	0.0002	0.0030	0.0028	9.486e-05	5.583e-05	0	0.0001	2.073e-05	0.0007	3.243e-05	0.0006	0.0033	0.0001	0.0001	8.993e-05	0.0002	0.0031	8.163e-05	6.72e-05	0.0019	0.0015	2.405e-05	0	0	0	0	0	0	4.411e-05	0	0.0031	0.562	0.21550	T	0.64	0.10714	T	0.642	0.49795	P	0.09	0.32786	B	0.000004	0.00162	U	19.585800	0.996129	0.24095	N	1.87	0.49600	L	-4.03	0.96659	D	-0.46	0.23808	N	0.149	0.15187	0.121	0.84550	D	0.759	0.91788	D	10	0.00569275	0.00126	T	0.059665	0.67740	D	0.329	0.65126	.	.	0.766198879023	0.76406	0.1778561325156901	0.17704	0.731568185231	0.62751	0.551546216011	0.46076	T	0.013692	0.11797	T	-0.264652	0.12359	T	-0.156295	0.58682	T	0.0309884791212522	0.02145	T	0.737626	0.38228	T	0.075899445	0.17130	0.113508366	0.27393	0.075899445	0.17130	0.113508366	0.27392	-4.143	0.27584	T	.	.	0.076	0.09917	B	.;.;.;.	.;.;.;.	2.601853	0.33775	19.44	0.98842788490551303	0.47152	0.16511	0.19423	N	AEFBI	0.083319	0.16879	N	-0.333111080679934	0.27898	1.534314	-0.327769279881588	0.27205	1.507997	0.547936070423186	0.21309	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	3.7	3.7	0.41607	1.003000	0.29410	4.211000	0.42532	0.676000	0.76740	0.001000	0.13787	1.000000	0.68203	0.106000	0.18562	0.0963:0.0:0.9037:0.0	10.162	0.42036	878	0.29785	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	725.98	33	chr22	39649563	.	G	A	725.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.360e-01;DP=764;ExcessHet=0.0000;FS=2.580;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.13;ReadPosRankSum=-1.760e-01;SOR=0.924	GT:AD:DP:GQ:PL	0/1:17,28:45:99:740,0,422	20	0	1	0
chr22	40021600	40021600	G	A	exonic	FAM83F	.	nonsynonymous SNV	FAM83F:NM_138435:exon4:c.G1090A:p.G364S,	.	.	407	1112	3	0	0	3	0.0013471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.981	D	0.355	B	0.216	N	1.000	N	1.04	L	3.09	T	-0.985	T	0.013	T	0.402	1.364	10.49	4.79	2.484	2.157	13.197	0.135	0.00885635609565	0.0005	0.000599042	0.0004	0.0004	0.0005	0	0	0.0005	0	0.0005	0.0003816	59	154602	rs138973979	0.0009	0.0008	0.0008	0.0009	0.0010	0.0008	0.0008	0.0009	0.0009	0.0002	0.0005	0	0	1.934e-05	0.0005	0.0010	0.0011	0.0009	0.0005	0.0005	0.0004	0.0005	0.0007	0.0004	0.0003	0.0006	0.0005	0.0002	0	0.0007	0	0	0	0	0.0007	0	0.0006	0.156	0.24090	T	0.272	0.92824	T	0.981	0.59675	D	0.355	0.42984	B	0.216202	0.16246	N	0.626225	0.999998	0.08975	N	2.33	0.66821	M	3.09	0.08371	T	-1.16	0.29727	N	0.339	0.38027	-0.9853	0.33760	T	0.013	0.04985	T	10	0.026163965	0.00790	T	0.008856	0.23366	T	0.135	0.36572	.	.	0.367992661779	0.36405	0.25362860561142664	0.25276	0.388419964531	0.40106	0.411166846752	0.26619	T	0.019397	0.15464	T	-0.428967	0.01503	T	-0.486365	0.23774	T	0.0293189537066554	0.01886	T	0.678632	0.28733	T	0.08254297	0.19020	0.10386258	0.24930	0.08254297	0.19019	0.10386258	0.24930	-3.842	0.21433	T	.	.	0.083	0.12418	B	.;.	.;.	1.643061	0.20970	14.99	0.96196514003309386	0.29010	0.23388	0.22060	N	AEFDBI	0.150140	0.27437	N	-0.282938785524057	0.29808	1.656291	-0.354545448807719	0.26369	1.456042	0.999994797608324	0.74766	0.614807	0.35715	0	0.59043	0.45803	0	0.616094	0.41390	0	0.542086	0.14980	0	.	.	4.79	4.79	0.60909	1.952000	0.39968	3.406000	0.38159	0.676000	0.76740	0.054000	0.21560	0.999000	0.35428	0.003000	0.05239	0.0:0.0:1.0:0.0	13.197	0.59169	788	0.46569	.;.	.	.	.	.	.	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	0.02381	1966.98	45	chr22	40021600	.	G	A	1966.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=1000;ExcessHet=0.0000;FS=4.557;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.53;ReadPosRankSum=0.576;SOR=0.380	GT:AD:DP:GQ:PL	0/1:50,69:119:99:1981,0,1289	20	0	1	0
chr22	42556539	42556539	T	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.T182G:p.V61G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.986	D	0.000	D	1.000	D	3.72	H	-0.89	T	0.175	D	0.623	D	0.938	1.886	12.26	2.06	0.581	2.646	7.249	0.743	0.267525326896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.976	0.76916	D	0.000011	0.62929	D	0.066123	1	0.81001	D	.	.	.	-0.89	0.74793	T	-6.12	0.90332	D	0.734	0.75834	0.175	0.85491	D	0.623	0.86738	D	10	0.8614321	0.85365	D	0.267525	0.89750	D	0.743	0.91112	0.694	0.83126	0.92220556239	0.92142	0.9014059482551177	0.90112	2.55511015912	0.97939	0.457724839449	0.32999	T	0.174109	0.52321	T	0.379328	0.88664	D	0.307102	0.88520	D	0.998575329780579	0.94534	D	0.784422	0.44280	T	0.8310436	0.85975	0.68094337	0.81252	0.8310436	0.85976	0.68094337	0.81252	-13.965	0.92942	D	.	.	0.347	0.61633	A	.;.;.;.	.;.;.;.	3.624119	0.51305	23.1	0.99327617884541508	0.59661	0.86180	0.45412	D	AEFGI	0.196993	0.32394	N	0.400641011724702	0.61458	4.347165	0.172301099025306	0.48335	3.05082	0.518494784044137	0.21076	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.1	2.06	0.25932	2.964000	0.48885	4.015000	0.41197	0.656000	0.54149	1.000000	0.71638	1.000000	0.68203	0.159000	0.20615	0.0:0.1076:0.0:0.8924	7.249	0.25315	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	136.98	36	chr22	42556539	.	T	G	136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.762e+00;DP=873;ExcessHet=0.0000;FS=122.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.35;MQRankSum=-6.820e-01;QD=1.73;ReadPosRankSum=3.24;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:64,15:79:99:0|1:42556539_T_G:151,0,1960:42556539	20	0	1	0
chr22	42556543	42556543	T	G	exonic	SERHL2	.	nonsynonymous SNV	SERHL2:NM_001284334:exon4:c.T186G:p.D62E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.821	P	0.441	B	0.002	N	1.000	N	1.315	L	2.21	T	-0.999	T	0.032	T	0.212	-0.580	1.393	-2.85	-0.806	-1.272	13.100	0.034	0.00832094364314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.22053	T	0.309	0.27503	T	0.247	0.31125	B	0.162	0.34839	B	0.001569	0.38612	N	0.282552	1	0.81001	D	.	.	.	2.21	0.18414	T	-1.49	0.39314	N	0.24	0.29544	-0.9991	0.30171	T	0.032	0.13854	T	10	0.09874669	0.17874	T	0.008321	0.22029	T	0.034	0.08419	0.426	0.47185	0.0138822411134	0.00435	0.4609707125075393	0.46015	1.10801927807	0.77958	0.357379436493	0.19003	T	0.012546	0.11008	T	-0.274701	0.11238	T	-0.632365	0.10235	T	0.54435122013092	0.34266	D	0.765423	0.44184	T	0.054485157	0.10461	0.05899406	0.10998	0.054485157	0.10460	0.05899406	0.10998	-5.382	0.40746	T	.	.	0.151	0.43748	B	.;.;.;.	.;.;.;.	0.944701	0.13207	9.706	0.6887751483704877	0.08795	0.14419	0.18393	N	AEFGI	0.179759	0.30705	N	-1.20641032318746	0.04905	0.2224121	-1.28055921703542	0.04693	0.2219803	0.532846911749338	0.21189	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	3.1	-2.85	0.05392	-0.976000	0.03896	-3.158000	0.03012	-0.735000	0.03699	0.469000	0.26714	0.000000	0.08366	0.069000	0.16583	0.0:0.6645:0.0:0.3355	13.100	0.58628	255	0.89985	Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;Alpha/beta hydrolase fold-1|Alpha/beta hydrolase fold-1;.	.	.	.	.	.	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	0.09375	507.45	36	chr22	42556543	.	T	G	507.45	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-2.766e+00;DP=1305;ExcessHet=0.3300;FS=195.461;InbreedingCoeff=-0.1760;MLEAC=4;MLEAF=0.125;MQ=54.99;MQRankSum=-9.840e-01;QD=1.67;ReadPosRankSum=1.80;SOR=9.967	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:60,16:76:99:0|1:42556539_T_G:169,0,1885:42556539	13	0	3	5
chr22	43129255	43129255	G	C	exonic	BIK	.	nonsynonymous SNV	BIK:NM_001197:exon5:c.G433C:p.A145P,	.	.	412	1106	1	0	3	4	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.989	D	0.828	P	0.145	N	0.895	N	0.55	N	1.78	T	-0.964	T	0.093	T	0.576	2.156	13.17	3.62	1.174	-0.100	11.496	0.160	0.00627873438899	.	.	5.339e-05	0	0	0	0	9.82e-05	0	0	.	.	.	rs867355694	1.317e-05	1.374e-05	1.38e-05	1.254e-05	0.0004	8.43e-06	6.79e-06	6.371e-05	2.625e-05	0	4.507e-05	0	0	0	0.0004	1.356e-05	0	0	1.986e-05	1.982e-05	1.294e-05	2.711e-05	4.431e-05	5.28e-06	2.47e-06	1.176e-05	6.26e-06	0	0	0	0	0	0	0	4.431e-05	0	0	0.164	0.23360	T	0.102	0.38450	T	0.989	0.62824	D	0.828	0.59497	P	0.145427	0.02919	N	2.124800	0.89481	0.27815	N	0.55	0.14455	N	1.78	0.25678	T	-2.11	0.48020	N	0.305	0.34444	-0.9637	0.38468	T	0.093	0.35336	T	10	0.18232599	0.33507	T	0.006279	0.16493	T	0.160	0.41473	0.444	0.50139	0.299427821978	0.29548	0.09695279231547634	0.09627	0.0330782671808	0.03458	0.331558465958	0.15170	T	0.197199	0.55380	T	-0.168329	0.25488	T	-0.47957	0.24492	T	0.238666281104088	0.22358	T	0.259974	0.04152	T	0.1714774	0.37784	0.2841341	0.54410	0.1714774	0.37784	0.2841341	0.54409	-2.841	0.08567	T	.	.	0.213	0.44148	B	.	.	1.660314	0.21177	15.08	0.99498003056907813	0.67859	0.00871	0.03451	N	ALL	0.034677	0.04338	N	-0.129769831450848	0.36099	2.082192	-0.218660508216381	0.30868	1.741722	0.99999956995116	0.74766	0.495158	0.18159	0	0.519925	0.08708	0	0.535252	0.11790	0	0.613276	0.41899	0	.	.	4.64	3.62	0.40616	-0.152000	0.10145	0.262000	0.16556	-1.054000	0.01632	0.005000	0.17040	0.047000	0.21741	0.002000	0.04165	0.0:0.7887:0.2113:0.0	11.496	0.49657	809	0.43032	.	.	.	.	.	.	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	0.02381	1021.98	27	chr22	43129255	.	G	C	1021.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.192e+00;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.97;ReadPosRankSum=0.232;SOR=0.752	GT:AD:DP:GQ:PL	0/1:26,38:64:99:1036,0,577	20	0	1	0
chr22	44822459	44822459	G	A	exonic	ARHGAP8;PRR5-ARHGAP8	.	nonsynonymous SNV	ARHGAP8:NM_001198726:exon6:c.G475A:p.E159K	.	.	429	1081	12	0	0	12	0.00551978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.999	D	0.936	D	0.005	U	0.995	D	0.895	L	-0.01	T	-0.777	T	0.205	T	0.614	2.529	14.42	4.26	2.181	5.828	14.633	0.277	0.0450358433204	0.0058	0.00219649	0.0049	0.0016	0.0034	0	0.0014	0.0072	0.0055	0.0023	0.0050452	780	154602	rs55849456	0.0069	0.0068	0.0071	0.0068	0.0078	0.0068	0.0068	0.0076	0.0076	0.0011	0.0048	0.0200	2.811e-05	0.0008	0.0028	0.0078	0.0066	0.0019	0.0048	0.0048	0.0055	0.0039	0.0071	0.0045	0.0044	0.0066	0.0064	0.0019	0	0.0050	0.0170	0	0.0004	0	0.0071	0.0071	0.0017	0.144	0.28026	T	0.603	0.08245	T	0.782	0.77913	P	0.174	0.67150	B	0.005141	0.33053	U	0.000000	0.995347	0.42649	D	2.2	0.62015	M	-0.01	0.62762	T	-1.97	0.47683	N	0.703	0.70702	-0.7770	0.56470	T	0.205	0.56362	T	10	0.010434717	0.00232	T	0.045036	0.61784	D	0.277	0.59375	.	.	0.436025050644	0.43221	0.5785260327497784	0.57781	.	.	0.46615204215	0.34153	T	0.060243	0.31333	T	-0.290585	0.09578	T	-0.180786	0.56451	T	0.0259432779380922	0.01398	T	0.90111	0.87368	D	0.088467605	0.20639	0.1226411	0.29582	0.088467605	0.20638	0.1226411	0.29581	-10.979	0.79543	D	.	.	0.174	0.49778	B	.;.;.;.;.	.;.;.;.;.	4.671024	0.74647	26.2	0.99799208558287067	0.88372	0.88274	0.48128	D	AEFBCI	0.657230	0.62893	D	-0.0359265459700817	0.40234	2.385867	-0.0521224228508628	0.37399	2.189186	0.999838454879708	0.43792	0.732398	0.92422	0	0.547309	0.14657	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	4.26	4.26	0.49832	4.957000	0.63358	5.999000	0.52457	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.021000	0.11733	0.0:0.0:1.0:0.0	14.633	0.68272	988	0.01987	CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain;CRAL-TRIO lipid binding domain|CRAL-TRIO lipid binding domain|CRAL-TRIO lipid 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	0.02381	1118.98	40	chr22	44822459	.	G	A	1118.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.480e-01;DP=900;ExcessHet=0.0000;FS=1.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=-7.260e-01;SOR=0.963	GT:AD:DP:GQ:PL	0/1:38,48:86:99:1133,0,893	20	0	1	0
chr22	46691678	46691678	G	A	exonic	CERK	.	nonsynonymous SNV	CERK:NM_022766:exon11:c.C1226T:p.P409L,	.	.	.	.	.	.	.	.	.	.	.	2360072	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.973	D	0.000	D	1.000	D	3.135	M	1.91	T	-0.513	T	0.208	T	0.956	3.196	16.70	4.47	2.035	8.949	15.730	0.570	0.0792647604393	0.0002	.	0.0001	0.0005	0	0	0	0.0002	0	0	0.0001229	19	154602	rs200461233	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	6.708e-05	0	0	5.632e-05	0.0002	0.0001	0.0001	6.956e-05	0.0001	0.0001	0.0001	0.0001	0.0002	6.507e-05	5.319e-05	9.542e-05	6.946e-05	0.0002	0	0	0	0.0002	0	0	8.819e-05	0	0.0002	0.0	0.91255	D	0.01	0.65728	D	1.0	0.90584	D	0.973	0.72923	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.61	0.76335	M	1.91	0.23283	T	-9.31	0.98318	D	0.977	0.98750	-0.5131	0.68173	T	0.208	0.56703	T	10	0.9646555	0.95926	D	0.079265	0.73194	D	0.570	0.82516	.	.	0.467247493403	0.46351	0.8616557746505717	0.86129	0.775051705546	0.64973	0.732385277748	0.71854	T	0.764225	0.93637	D	0.0557255	0.59074	T	0.148246	0.80074	D	0.967877626419067	0.68053	D	0.989401	0.96508	D	0.7784551	0.82559	0.61422485	0.77548	0.7784551	0.82561	0.61422485	0.77549	-9.414	0.70323	D	.	.	0.441	0.61740	A	.	.	4.938119	0.81469	27.6	0.99827487279137883	0.90939	0.98916	0.88583	D	AEFBI	0.819327	0.74038	D	0.71502058844924	0.80615	7.334094	0.574832123724541	0.73141	5.922148	0.999994077426974	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.47	4.47	0.53770	8.983000	0.93040	9.585000	0.81036	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.042000	0.14466	0.0:0.0:1.0:0.0	15.730	0.77556	693	0.58582	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2047.98	43	chr22	46691678	.	G	A	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.633;DP=908;ExcessHet=0.0000;FS=7.543;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=-1.827e+00;SOR=0.532	GT:AD:DP:GQ:PL	0/1:92,86:178:99:2062,0,2135	20	0	1	0
chr22	49997398	49997398	C	T	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon13:c.G896A:p.C299Y	.	.	416	1078	27	1	0	29	0.0132723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.761	P	0.463	P	0.200	U	0.996	N	1.355	L	1.91	T	-1.083	T	0.029	T	0.345	1.025	9.188	1.34	0.326	1.348	5.122	0.041	.	0.0038	0.00978435	0.0102	0.0011	0.0203	0.0095	0.0156	0.0069	0.0097	0.0207	0.0088356	1366	154602	rs149914294	0.0072	0.0072	0.0068	0.0076	0.0203	0.0071	0.0070	0.0195	0.0192	0.0009	0.0171	0.0023	0.0115	0.0136	0.0104	0.0056	0.0062	0.0203	0.0066	0.0066	0.0062	0.0070	0.0252	0.0063	0.0061	0.0216	0.0202	0.0008	0	0.0085	0.0037	0.0099	0.0126	0.0170	0.0074	0.0057	0.0252	0.014	0.53172	D	0.057	0.46406	T	0.761	0.43566	P	0.463	0.46548	P	0.200040	0.16624	U	0.423844	0.995598	0.23251	N	1.995	0.54099	M	1.91	0.23283	T	-3.74	0.71042	D	0.384	0.42541	-1.0826	0.06852	T	0.029	0.12278	T	10	0.004169047	0.00082	T	.	.	.	0.041	0.10877	.	.	.	.	0.7003880099128312	0.69979	0.566038059239	0.52916	0.587475061417	0.51138	T	0.072536	0.34477	T	-0.515064	0.00470	T	-0.497035	0.22657	T	0.043016398541308	0.04240	T	0.473453	0.14099	T	0.16738981	0.37132	0.2157739	0.46179	0.16738981	0.37132	0.2157739	0.46178	-4.617	0.32385	T	.	.	0.353	0.57016	A	.;.	.;.	1.593040	0.20375	14.72	0.5374895596968956	0.05000	0.37034	0.25669	N	AEFDBI	0.100557	0.20218	N	-0.404946728151991	0.25295	1.372082	-0.510310680304286	0.21873	1.185335	0.1196562036741	0.16849	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.567892	0.33627	0	.	.	2.39	1.34	0.21018	-0.038000	0.12096	1.234000	0.25062	-0.204000	0.08590	0.000000	0.06391	0.874000	0.27626	0.458000	0.28074	0.0:0.8196:0.0:0.1804	5.122	0.14198	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	0	0	0	1	0	0	0	0.02381	913.98	37	chr22	49997398	.	C	T	913.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.664e+00;DP=795;ExcessHet=0.0000;FS=5.024;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.64;ReadPosRankSum=-8.220e-01;SOR=0.296	GT:AD:DP:GQ:PL	0/1:34,33:67:99:928,0,1012	20	0	1	0
chr22	49998059	49998059	G	A	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon11:c.C785T:p.P262L	.	.	353	1140	27	2	0	31	0.0134141	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.41	T	0.196	B	0.016	B	0.878	N	1.000	N	0.895	L	2.55	T	-0.961	T	0.011	T	0.12	0.584	7.154	-1.9	-0.213	0.158	7.460	0.051	.	0.0046	0.00978435	0.0109	0.0014	0.0200	0.0102	0.0142	0.0078	0.0096	0.0213	0.009353	1446	154602	rs142430606	0.0075	0.0076	0.0070	0.0081	0.0202	0.0074	0.0074	0.0194	0.0191	0.0010	0.0159	0.0026	0.0117	0.0139	0.0098	0.0062	0.0064	0.0202	0.0072	0.0072	0.0068	0.0076	0.0253	0.0068	0.0067	0.0216	0.0203	0.0009	0	0.0086	0.0046	0.0102	0.0128	0.0170	0.0086	0.0061	0.0253	0.294	0.14793	T	0.484	0.11760	T	0.196	0.29532	B	0.016	0.17743	B	0.877826	0.07216	N	1.071190	1	0.08975	N	1.4	0.35362	L	2.55	0.13795	T	-2.96	0.61722	D	0.162	0.17002	-0.9609	0.39012	T	0.011	0.03996	T	10	0.0031473637	0.00053	T	.	.	.	0.051	0.14325	.	.	.	.	0.28385682497838705	0.28298	0.23272974605	0.25809	0.401216804981	0.25237	T	0.020021	0.15839	T	-0.623332	0.00105	T	-0.652555	0.08776	T	0.0182060946116514	0.00541	T	0.50185	0.15733	T	0.055870853	0.10916	0.09897229	0.23614	0.055870853	0.10915	0.09897229	0.23613	-8.295	0.63062	D	.	.	0.097	0.15609	B	.;.	.;.	1.469939	0.18935	14.00	0.61975538515918471	0.06845	0.01983	0.05993	N	AEFDBI	0.035760	0.04655	N	-0.962792134157025	0.09407	0.4450946	-0.958087245727032	0.10736	0.5426275	0.140524573342122	0.17264	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.57	-1.9	0.07248	-0.496000	0.06517	0.036000	0.13800	-0.132000	0.13132	0.000000	0.06391	0.004000	0.18990	0.579000	0.30870	0.5351:0.0:0.4649:0.0	7.460	0.26457	946	0.12043	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, 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	0.02381	650.98	35	chr22	49998059	.	G	A	650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.85;ReadPosRankSum=0.589;SOR=0.711	GT:AD:DP:GQ:PL	0/1:34,26:60:99:665,0,805	20	0	1	0
chr22	49999850	49999850	T	C	exonic	IL17REL	.	nonsynonymous SNV	IL17REL:NM_001001694:exon7:c.A452G:p.E151G	.	.	405	1089	27	1	0	29	0.01314	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.718	P	0.295	B	0.201	U	1.000	N	2.175	M	2.34	T	-1.058	T	0.021	T	0.289	1.266	10.13	1.33	-0.103	1.341	4.135	0.037	.	0.0028	0.00938498	0.0170	0.0010	0.0291	0.0073	0.2143	0.0106	0.0217	0.0223	0.0001537	4	26028	rs200958270	0.0068	0.0067	0.0064	0.0073	0.0204	0.0067	0.0067	0.0196	0.0193	0.0009	0.0157	0.0023	0.0110	0.0117	0.0093	0.0056	0.0060	0.0204	0.0065	0.0065	0.0061	0.0069	0.0251	0.0062	0.0060	0.0214	0.0201	0.0010	0	0.0085	0.0037	0.0101	0.0108	0.0170	0.0074	0.0052	0.0251	0.006	0.61437	D	0.079	0.42086	T	0.718	0.42284	P	0.295	0.40843	B	0.200749	0.16606	U	0.547580	1	0.08975	N	2.175	0.60977	M	2.34	0.16351	T	-4.59	0.78891	D	0.32	0.36043	-1.0575	0.12388	T	0.021	0.09056	T	10	0.0023868978	0.00035	T	.	.	.	0.037	0.09474	.	.	.	.	0.4867419778835534	0.48594	0.37277209944	0.38762	0.689770460129	0.65673	T	0.052898	0.29291	T	-0.542197	0.00325	T	-0.536009	0.18690	T	0.0281239854340343	0.01706	T	0.417258	0.10990	T	0.2990288	0.52817	0.26127082	0.51902	0.2990288	0.52817	0.26127082	0.51901	-7.701	0.59015	D	.	.	0.241	0.47557	B	.;.	.;.	2.852537	0.37665	20.6	0.99089437932231228	0.52173	0.12369	0.17226	N	AEFDBHCI	0.061432	0.11743	N	-0.498912231032657	0.22116	1.178677	-0.686593851938898	0.17295	0.919027	0.990245747383054	0.32087	0.623204	0.39778	0	0.578056	0.33634	0	0.378051	0.06126	2	0.554799	0.18163	0	.	.	3.63	1.33	0.20958	0.448000	0.21443	0.412000	0.18122	0.568000	0.28809	0.001000	0.13787	0.002000	0.18203	0.085000	0.17524	0.206:0.0:0.2137:0.5803	4.135	0.09634	946	0.12043	Interleukin-17 receptor C/E, N-terminal;Interleukin-17 receptor C/E, 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	0.02381	556.98	33	chr22	49999850	.	T	C	556.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.511e+00;DP=691;ExcessHet=0.0000;FS=5.153;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.28;ReadPosRankSum=-5.630e-01;SOR=0.217	GT:AD:DP:GQ:PL	0/1:15,24:39:99:571,0,391	20	0	1	0
chrX	6533824	6533883	TCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	-	exonic	VCX3A	.	nonframeshift deletion	VCX3A:NM_016379:exon3:c.423_482del:p.V160_E179del,	.	.	45	125	45	1	10	57	0.158249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0009	0.0006	6.599e-05	0.0042	0.0004	0.0004	0.0031	0.0027	0.0003	0.0005	0.0028	0.0042	0.0009	0.0014	0.0003	0.0010	0.0004	0.0044	0.0088	0.0058	0	0.0074	0.0039	0.0038	0.0043	0.0039	0.0053	0.0028	0.0055	0.0040	0.0074	0.0053	0.0227	0.0036	0.0050	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:67,0,19,0:86:99:.:.:304,771,7215,0,2759,2495,884,6370,2745,6458	2	0	1	11
chrX	6533823	6533883	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	0	exonic	VCX3A	.	.	.	.	.	627	586	269	6	34	315	0.193393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4493.37	298	chrX	6533823	.	CTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT	C,TTCCACCTCGCTCTCCTGACTCAGTGGTTCCTCCACCTGGCTCTCCTGACTCAGTGGTTCT,*	4493.37	.	AC=1,6,1;AF=0.050,0.300,0.050;AN=20;BaseQRankSum=0.473;DP=4867;ExcessHet=4.6500;FS=6.509;InbreedingCoeff=-0.3114;MLEAC=2,9,2;MLEAF=0.100,0.450,0.100;MQ=47.84;MQRankSum=1.25;QD=4.70;ReadPosRankSum=2.24;SOR=1.298	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:67,0,19,0:86:99:.:.:304,771,7215,0,2759,2495,884,6370,2745,6458	2	0	1	11
chrX	8170097	8170097	-	GCTCTCCTGACTCAGTGGTTCCTCCACCTG	exonic	VCX2	.	nonframeshift insertion	VCX2:NM_016378:exon3:c.354_355insCAGGTGGAGGAACCACTGAGTCAGGAGAGC:p.S118_E119insQVEEPLSQES,	.	.	431	1063	15	11	2	39	0.0171059	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0037	0.0011	0.0002	0.0036	0.0030	0	0.0008	0.0025161	389	154602	rs770371411	0.0055	0.0055	0.0054	0.0055	0.0073	0.0053	0.0053	0.0065	0.0062	0.0073	0.0042	0.0029	0.0027	0.0236	0.0073	0.0048	0.0074	0.0032	0.0029	0.0054	0.0035	0.0005	0.0033	0.0026	0.0025	0.0028	0.0027	0.0026	0	0.0015	0.0025	0.0004	0.0067	0	0.0033	0.0008	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2024.94	186	chrX	8170097	.	C	CGCTCTCCTGACTCAGTGGTTCCTCCACCTG	2024.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.33;DP=3152;ExcessHet=0.0000;FS=10.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.17;MQRankSum=-2.494e+00;QD=14.46;ReadPosRankSum=0.932;SOR=1.023	GT:AD:DP:GQ:PL	0/1:83,57:140:99:2039,0,3256	20	0	1	0
chrX	9691587	9691587	G	A	exonic	TBL1X	.	nonsynonymous SNV	TBL1X:NM_001139467:exon7:c.G472A:p.A158T	.	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.003	B	0.001	B	0.951	N	1.000	N	0	N	0.6	T	-1.020	T	0.084	T	0.115	-1.451	0.019	3.31	0.535	0.862	9.927	0.044	0.0131924463556	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1035620161	1.276e-05	1.275e-05	1.497e-05	8.274e-06	1.545e-05	7.4e-06	5.79e-06	8.62e-06	6.64e-06	0	0	0	0	0	0	1.545e-05	2.171e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.04417	T	0.64	0.07127	T	0.001	0.07471	B	0.001	0.04355	B	0.950585	0.07653	N	1.028760	1	0.08975	N	0.205	0.09354	N	0.6	0.55608	T	0.03	0.06612	N	0.091	0.07811	-1.0200	0.23715	T	0.084	0.32900	T	10	0.08466551	0.14213	T	0.013192	0.32398	T	0.044	0.11924	0.317	0.29419	0.55739315534	0.55398	0.2824439719265895	0.28157	0.699425841073	0.61035	0.406365126371	0.25954	T	0.206548	0.56593	T	-0.387577	0.02789	T	-0.794504	0.02043	T	0.0284032169729471	0.01747	T	0.672833	0.28305	T	0.04051441	0.05797	0.079529166	0.17911	0.04051441	0.05797	0.079529166	0.17911	-3.537	0.19318	T	.	.	0.062	0.01600	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.444883	0.18651	13.85	0.163900942264949	0.00437	0.31793	0.24426	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.999988352852929	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.48	3.31	0.37025	1.621000	0.36597	0.902000	0.22558	-0.274000	0.06627	0.994000	0.38300	0.313000	0.24283	0.141000	0.19983	0.0:0.0:0.3404:0.6596	9.927	0.40667	962	0.08456	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	3381.98	64	chrX	9691587	.	G	A	3381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.06;DP=1184;ExcessHet=0.0000;FS=2.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-3.750e-01;SOR=0.843	GT:AD:DP:GQ:PL	0/1:126,135:261:99:3396,0,2817	20	0	1	0
chrX	11112065	11112065	G	A	exonic	HCCS	.	nonsynonymous SNV	HCCS:NM_001122608:exon2:c.G5A:p.G2D	Linear skin defects with multiple congenital anomalies 1, X-linked dominant	.	0	1520	1	1	0	3	0.000985869	.	.	134663	not_provided|Inborn_genetic_diseases|not_specified|Intellectual_disability|HCCS-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.04	D	0.001	B	0.003	B	0.000	D	0.999	D	2.485	M	-1.86	D	-0.124	T	0.543	D	0.414	2.275	13.57	4.53	1.057	4.465	9.297	0.331	0.676562575478	0.0022	.	0.0014	0.0004	0.0004	0	0.0002	0.0022	0.0016	0.0011	0.0013648	211	154602	rs144641429	0.0022	0.0022	0.0023	0.0019	0.0026	0.0021	0.0021	0.0026	0.0025	0.0002	0.0002	0	0	0.0002	0.0007	0.0026	0.0017	0.0009	0.0011	0.0011	0.0013	0.0009	0.0022	0.0010	0.0009	0.0019	0.0018	0.0003	0	9.321e-05	0	0	0.0002	0	0.0022	0	0.0007	0.026	0.46910	D	0.035	0.52389	D	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.054274	0.998941	0.45735	D	2.42	0.70002	M	-1.86	0.84341	D	-2.34	0.51811	N	0.39	0.43126	-0.1241	0.79538	T	0.543	0.83161	D	10	0.049010843	0.04429	T	0.676563	0.97313	D	0.331	0.65325	.	.	0.803966197169	0.80213	0.6634977496614873	0.66286	1.29567970477	0.82900	0.751214146614	0.74625	T	0.34696	0.71515	T	-0.282634	0.10391	T	-0.178905	0.56625	T	0.0503766115978964	0.05565	T	0.448855	0.12628	T	0.51478153	0.67958	0.34262463	0.59986	0.51478153	0.67959	0.34262463	0.59985	-8.419	0.63891	D	.	.	0.183	0.39731	B	.;.;.	.;.;.	4.207182	0.63535	24.6	0.99671850929441108	0.78652	0.82255	0.41510	D	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999999989352261	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4	4.53	0.55009	4.539000	0.60368	11.363000	0.92593	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.218000	0.22407	0.1016:0.0:0.8984:0.0	9.297	0.36983	491	0.76657	.;.;.	.	.	.	.	.	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	0.02381	1349.98	33	chrX	11112065	.	G	A	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=800;ExcessHet=0.0000;FS=1.528;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-5.600e-02;SOR=0.529	GT:AD:DP:GQ:PL	0/1:55,56:111:99:1364,0,1418	20	0	1	0
chrX	24364259	24364259	-	TGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGC:p.A543_P544insA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:52,0,0,48,0,0,0:100:99:1747,1912,4011,1912,4011,4011,0,2099,2099,1955,1912,4011,4011,2099,4011,1912,4011,4011,2099,4011,4011,1912,4011,4011,2099,4011,4011,4011	8	0	1	0
chrX	24364259	24364259	-	TGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGC:p.A543_P544insAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:52,0,0,48,0,0,0:100:99:1747,1912,4011,1912,4011,4011,0,2099,2099,1955,1912,4011,4011,2099,4011,1912,4011,4011,2099,4011,4011,1912,4011,4011,2099,4011,4011,4011	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGC:p.A543_P544insAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:52,0,0,48,0,0,0:100:99:1747,1912,4011,1912,4011,4011,0,2099,2099,1955,1912,4011,4011,2099,4011,1912,4011,4011,2099,4011,4011,1912,4011,4011,2099,4011,4011,4011	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGC:p.A543_P544insAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:52,0,0,48,0,0,0:100:99:1747,1912,4011,1912,4011,4011,0,2099,2099,1955,1912,4011,4011,2099,4011,1912,4011,4011,2099,4011,4011,1912,4011,4011,2099,4011,4011,4011	8	0	1	0
chrX	24364259	24364259	-	TGCTGCTGCTGCTGC	exonic	SUPT20HL1	.	nonframeshift insertion	SUPT20HL1:NM_001136234:exon1:c.1577_1578insTGCTGCTGCTGCTGC:p.A543_P544insAAAAA,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	21595.21	70	chrX	24364256	.	TTGC	TTGCTGC,TTGCTGCTGC,TTGCTGCTGCTGC,T,TTGCTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	21595.21	.	AC=3,2,7,4,2,1;AF=0.071,0.048,0.167,0.095,0.048,0.024;AN=42;BaseQRankSum=0.020;DP=2737;ExcessHet=0.0777;FS=0.625;InbreedingCoeff=0.3272;MLEAC=3,2,7,4,2,1;MLEAF=0.071,0.048,0.167,0.095,0.048,0.024;MQ=59.96;MQRankSum=0.00;QD=28.12;ReadPosRankSum=-2.820e-01;SOR=0.662	GT:AD:DP:GQ:PL	0/3:52,0,0,48,0,0,0:100:99:1747,1912,4011,1912,4011,4011,0,2099,2099,1955,1912,4011,4011,2099,4011,1912,4011,4011,2099,4011,4011,1912,4011,4011,2099,4011,4011,4011	8	0	1	0
chrX	27747292	27747300	GAGGAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.397_405del:p.E145_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,64,0,0,0,0,0:64:99:2703,193,0,2703,193,2703,2703,193,2703,2703,2703,193,2703,2703,2703,2703,193,2703,2703,2703,2703,2703,193,2703,2703,2703,2703,2703	7	4	1	0
chrX	27747295	27747300	GAGGAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.400_405del:p.E146_E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,64,0,0,0,0,0:64:99:2703,193,0,2703,193,2703,2703,193,2703,2703,2703,193,2703,2703,2703,2703,193,2703,2703,2703,2703,2703,193,2703,2703,2703,2703,2703	7	4	1	0
chrX	27747298	27747300	GAG	-	exonic	DCAF8L2	.	nonframeshift deletion	DCAF8L2:NM_001353450:exon5:c.403_405del:p.E147del	.	.	532	397	66	140	387	733	0.303509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,64,0,0,0,0,0:64:99:2703,193,0,2703,193,2703,2703,193,2703,2703,2703,193,2703,2703,2703,2703,193,2703,2703,2703,2703,2703,193,2703,2703,2703,2703,2703	7	4	1	0
chrX	27747300	27747300	-	GAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAG:p.E147_Q148insEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,64,0,0,0,0,0:64:99:2703,193,0,2703,193,2703,2703,193,2703,2703,2703,193,2703,2703,2703,2703,193,2703,2703,2703,2703,2703,193,2703,2703,2703,2703,2703	7	4	1	0
chrX	27747300	27747300	-	GAGGAGGAGGAGGAGGAG	exonic	DCAF8L2	.	nonframeshift insertion	DCAF8L2:NM_001353450:exon5:c.405_406insGAGGAGGAGGAGGAGGAG:p.E147_Q148insEEEEEE	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4524	18919.93	46	chrX	27747282	.	AGAGGAGGAGGAGGAGGAG	AGAGGAGGAG,AGAGGAGGAGGAG,A,AGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAG,AGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	18919.93	.	AC=13,5,1,3,1,1;AF=0.310,0.119,0.024,0.071,0.024,0.024;AN=42;BaseQRankSum=0.505;DP=1083;ExcessHet=0.0008;FS=0.759;InbreedingCoeff=0.6111;MLEAC=13,5,1,3,1,1;MLEAF=0.310,0.119,0.024,0.071,0.024,0.024;MQ=59.99;MQRankSum=0.00;QD=26.27;ReadPosRankSum=0.980;SOR=0.634	GT:AD:DP:GQ:PL	1/1:0,64,0,0,0,0,0:64:99:2703,193,0,2703,193,2703,2703,193,2703,2703,2703,193,2703,2703,2703,2703,193,2703,2703,2703,2703,2703,193,2703,2703,2703,2703,2703	7	4	1	0
chrX	45069832	45069832	C	T	exonic	KDM6A	.	nonsynonymous SNV	KDM6A:NM_001291418:exon15:c.C1940T:p.T647M	Kabuki syndrome 2, X-linked dominant	.	1	1240	187	92	2	373	0.13013	.	.	380059	not_specified|Kabuki_syndrome_2|not_provided	MedGen:CN169374|MONDO:MONDO:0010465,MedGen:C3275495,OMIM:300867,Orphanet:2322|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.1	T	0.646	P	0.097	B	0.209	N	1.000	P	0	N	0.76	T	-1.067	T	0.055	T	0.202	0.353	5.916	-2.48	-0.616	-0.793	15.541	0.062	0.153986145614	.	.	0.0002	0	0.0006	0	0	0.0002	0	0.0002	0.0001423	22	154602	rs2230018	0.0003	0.0003	0.0002	0.0003	0.0012	0.0002	0.0002	0.0005	0.0003	0	0.0003	5.159e-05	9.944e-05	0	0.0012	0.0003	0.0003	0.0005	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0002	0.0002	3.259e-05	0	9.522e-05	0	0	0	0	0.0003	0.0007	0.0008	0.139	0.25768	T	0.09	0.40267	T	0.646	0.40549	P	0.097	0.30390	B	0.208580	0.16421	N	0.640382	0.999966	0.18878	P	0.345	0.11182	N	0.76	0.49919	T	0.81	0.01839	N	0.052	0.15187	-1.0668	0.10131	T	0.055	0.23110	T	9	0.03868887	0.02304	T	0.153986	0.83517	D	0.062	0.17934	.	.	0.193917141947	0.19028	0.24952797713721842	0.24866	0.11190476299	0.12625	0.237911581993	0.02605	T	0.015006	0.34128	T	-0.617003	0.00115	T	-0.779121	0.02480	T	0.0065993512139926	0.00074	T	0.863414	0.55914	D	0.040850677	0.05909	0.09863973	0.23522	0.053731814	0.10210	0.1197753	0.28907	-5.446	0.41359	T	0.1269424636613506	0.12910	0.068	0.03093	B	.;.;.;.;.	.;.;.;.;.	-1.081137	0.00663	0.018	0.8421640515683424	0.15163	0.07799	0.13795	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.999952254868068	0.48110	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.82	-2.48	0.06052	-0.985000	0.03861	-4.604000	0.02073	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.943000	0.48514	0.0:0.7711:0.0:0.2289	15.541	0.75790	611	0.66908	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	1	0	0.2381	28040.68	33	chrX	45069832	.	C	A,T	28040.68	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=4.41;DP=1938;ExcessHet=0.0097;FS=0.544;InbreedingCoeff=0.4750;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=19.89;ReadPosRankSum=-1.040e-01;SOR=0.755	GT:AD:DP:GQ:PL	0/1:132,126,0:258:99:3604,0,3515,4000,3893,7893	14	3	3	0
chrX	53076671	53076671	C	A	exonic	GPR173	.	nonsynonymous SNV	GPR173:NM_018969:exon2:c.C50A:p.P17Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.242	B	0.055	B	0.005	N	0.982	N	1.1	L	1.24	T	-1.033	T	0.047	T	0.214	-0.999	0.262	3.25	0.760	0.537	4.225	0.019	0.00653281048377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.12	0.35970	T	0.242	0.30930	B	0.055	0.25995	B	0.004780	0.33407	N	0.293754	0.981683	0.25020	N	0	0.06538	N	1.24	0.36691	T	-1.03	0.76496	N	0.118	0.10769	-1.0331	0.19459	T	0.047	0.20235	T	10	0.06589678	0.08957	T	0.006533	0.17215	T	0.019	0.03383	0.187	0.09646	0.202312658747	0.19855	0.2062213237142474	0.20539	0.738911916138	0.63132	0.487107425928	0.37038	T	0.047174	0.27643	T	-0.349476	0.04760	T	-0.739775	0.03900	T	0.121074274703579	0.14534	T	0.613539	0.23382	T	0.06867761	0.14982	0.1008684	0.24130	0.06867761	0.14982	0.1008684	0.24130	-3.814	0.21014	T	.	.	0.070	0.03625	B	.;.	.;.	0.800198	0.11711	8.288	0.52971025873828459	0.04849	0.31022	0.24232	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999986905306499	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.12	3.25	0.36363	0.703000	0.25321	1.026000	0.23443	0.599000	0.40250	0.018000	0.19461	0.518000	0.25293	0.645000	0.32557	0.2272:0.6499:0.0:0.1229	4.225	0.10033	323	0.86843	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	181.98	33	chrX	53076671	.	C	A	181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.340e-01;DP=756;ExcessHet=0.0000;FS=31.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.64;ReadPosRankSum=1.28;SOR=5.135	GT:AD:DP:GQ:PL	0/1:57,12:69:99:196,0,1575	20	0	1	0
chrX	54198398	54198398	G	A	exonic	WNK3	.	nonsynonymous SNV	WNK3:NM_001002838:exon23:c.C5158T:p.P1720S	.	.	418	1099	4	1	0	6	0.00272232	.	.	2430674	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.883	P	0.44	B	0.001	N	0.975	D	0.895	L	1.42	T	-1.059	T	0.075	T	0.366	2.874	15.57	5.45	2.273	2.144	16.988	0.078	0.00890658219571	.	.	9.772e-05	0.0001	0	0.0002	0	6.652e-05	0	0.0004	0.0001164	18	154602	rs200621254	9.661e-05	9.652e-05	8.985e-05	0.0001	0.0027	8.145e-05	7.592e-05	0.0015	0.0012	3.79e-05	5.691e-05	0	3.313e-05	0	0.0027	6.892e-05	0.0003	0.0004	8.951e-05	9.573e-05	8.995e-05	8.85e-05	0.0004	4.816e-05	3.689e-05	4.424e-05	2.636e-05	0.0001	0	0	0	0	0	0.0046	7.523e-05	0	0.0004	0.006	0.72154	D	0.03	0.54159	D	0.867	0.48537	P	0.44	0.45726	B	0.001263	0.39594	N	0.113704	0.975062	0.39157	D	1.87	0.49600	L	1.42	0.33189	T	-3.18	0.64478	D	0.159	0.25377	-1.0587	0.12083	T	0.075	0.30210	T	10	0.06356835	0.08301	T	0.008907	0.23487	T	0.078	0.22779	0.244	0.17830	0.110392049598	0.10638	0.39051237144291767	0.38966	0.216731289724	0.24195	0.338454246521	0.16206	T	0.349114	0.71701	T	-0.408713	0.02027	T	-0.510606	0.21252	T	0.074512489535748	0.09270	T	0.662034	0.27102	T	0.23445839	0.46267	0.41903836	0.65909	0.23445839	0.46267	0.41903836	0.65909	-3.726	0.19703	T	.	.	0.087	0.13174	B	.;.;.;.	.;.;.;.	2.617259	0.34002	19.50	0.99601967378931444	0.74278	0.79782	0.39602	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999336949581421	0.39185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.45	5.45	0.79688	2.198000	0.42339	5.629000	0.49110	-0.113000	0.14837	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.988	0.86217	6	0.99319	.;.;.;.	.	.	.	.	.	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	0.02381	1053.98	36	chrX	54198398	.	G	A	1053.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.800e-01;DP=793;ExcessHet=0.0000;FS=3.555;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.76;ReadPosRankSum=-7.430e-01;SOR=1.035	GT:AD:DP:GQ:PL	0/1:62,46:108:99:1068,0,1580	20	0	1	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X	.	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	0.974	N	.	.	.	.	.	.	.	.	.	2.938	15.79	0.637	0.126	1.026	4.504	.	.	.	.	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	0.6429	358994.42	659	chrX	55146104	.	G	A	358994.42	.	AC=27;AF=0.643;AN=42;BaseQRankSum=0.384;DP=14798;ExcessHet=17.4423;FS=0.000;InbreedingCoeff=-0.5620;MLEAC=27;MLEAF=0.643;MQ=60.00;MQRankSum=0.00;QD=25.13;ReadPosRankSum=0.159;SOR=0.675	GT:AD:DP:GQ:PL	0/1:128,553:681:99:14941,0,1891	0	6	15	0
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S	.	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.137	B	0.013	B	.	.	1.000	N	0	N	1.03	T	-1.045	T	0.046	T	0.044	2.192	13.29	0.635	0.130	1.087	4.527	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.4	44724.71	464	chrX	55146173	.	G	A	44724.71	.	AC=16;AF=0.400;AN=40;BaseQRankSum=1.44;DP=14192;ExcessHet=22.9655;FS=0.657;InbreedingCoeff=-0.6471;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.95;ReadPosRankSum=0.470;SOR=0.810	GT:AD:DP:GQ:PL	0/1:605,69:674:99:461,0,19397	4	0	16	1
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X	.	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	0.067	U	1.000	D	.	.	.	.	.	.	.	.	.	1.559	11.17	1.6	1.084	1.600	6.091	.	.	.	.	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	0.4048	41330.81	464	chrX	55146197	.	G	A	41330.81	.	AC=17;AF=0.405;AN=42;BaseQRankSum=1.21;DP=12738;ExcessHet=25.1139;FS=0.664;InbreedingCoeff=-0.6768;MLEAC=17;MLEAF=0.405;MQ=60.00;MQRankSum=0.00;QD=4.19;ReadPosRankSum=-3.990e-01;SOR=0.814	GT:AD:DP:GQ:PL	0/1:517,70:587:99:817,0,17543	4	0	17	0
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N	.	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.003	B	0.001	B	0.171	N	1.000	P	-0.345	N	1.04	T	-1.045	T	0.035	T	0.025	-1.501	0.017	-1.04	-0.355	-0.019	4.225	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	279484.49	466	chrX	55146212	.	C	T	279484.49	.	AC=22;AF=0.524;AN=42;BaseQRankSum=2.82;DP=11864;ExcessHet=43.6797;FS=1.429;InbreedingCoeff=-0.9104;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=25.15;ReadPosRankSum=1.65;SOR=0.530	GT:AD:DP:GQ:PL	0/1:133,396:529:99:12526,0,2410	0	1	20	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R	.	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.991	D	0.182	U	1.000	N	1.385	L	0.49	T	-0.956	T	0.213	T	0.424	2.149	13.14	1.6	1.084	1.915	6.091	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	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	30065.86	352	chrX	55146247	.	G	C	30065.86	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.033e+00;DP=8964;ExcessHet=20.9642;FS=0.691;InbreedingCoeff=-0.6153;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.83;ReadPosRankSum=-4.230e-01;SOR=0.755	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:387,41:428:99:0|1:55146247_G_C:513,0,15961:55146247	5	0	16	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13	.	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	29505.39	352	chrX	55146252	.	A	AT,G	29505.39	.	AC=16,1;AF=0.381,0.024;AN=42;BaseQRankSum=1.83;DP=8656;ExcessHet=25.1139;FS=0.000;InbreedingCoeff=-0.6799;MLEAC=16,1;MLEAF=0.381,0.024;MQ=60.00;MQRankSum=0.00;QD=4.46;ReadPosRankSum=-5.690e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:375,40,0:415:99:0|1:55146247_G_C:510,0,15504,1639,15624,17263:55146247	4	0	16	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G	.	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.18	B	0.062	B	0.023	N	1.000	N	1.445	L	0.62	T	-1.046	T	0.083	T	0.07	1.063	9.342	-0.917	-0.353	0.231	4.198	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	144900.84	345	chrX	55146254	.	T	C	144900.84	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-1.022e+00;DP=8618;ExcessHet=43.6797;FS=5.118;InbreedingCoeff=-0.9301;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=18.14;ReadPosRankSum=-9.060e-01;SOR=0.494	GT:AD:DP:GQ:PL	0/1:170,225:395:99:6560,0,4581	0	1	20	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8	.	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	27841.82	280	chrX	55146255	.	TG	T	27841.82	.	AC=16;AF=0.381;AN=42;BaseQRankSum=0.845;DP=7945;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=4.80;ReadPosRankSum=-9.670e-01;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,38:400:99:0|1:55146247_G_C:506,0,15066:55146247	5	0	16	0
chrX	55146256	55146256	G	0	exonic	FAM104B	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,38,0:400:99:0|1:55146247_G_C:506,0,15066,1596,15180,16776:55146247	5	0	15	0
chrX	55146256	55146256	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C179A:p.A60E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.712	P	0.402	B	0.061	U	1.000	N	1.04	L	0.84	T	-1.050	T	0.077	T	0.217	0.319	5.727	-0.582	-0.288	-0.780	2.532	0.029	0.00436554593426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28271	T	0.012	0.63918	D	0.712	0.42110	P	0.116	0.44547	B	0.061012	0.22205	U	0.310110	1	0.08975	N	1.295	0.32453	L	0.84	0.47477	T	-2.3	0.51157	N	0.257	0.29313	-1.0498	0.14453	T	0.077	0.30828	T	10	0.053805858	0.05630	T	0.004366	0.10624	T	0.029	0.06676	0.355	0.35571	0.156986980423	0.15292	0.24595024861261647	0.24509	0.191270352614	0.21451	0.305318623781	0.11200	T	0.047192	0.27649	T	-0.370384	0.03574	T	-0.769807	0.02774	T	0.165286540985107	0.18253	T	0.779322	0.41328	T	0.17303388	0.38027	0.2548788	0.51160	0.17303388	0.38027	0.2548788	0.51160	-2.801	0.10719	T	.	.	0.213	0.44174	B	.;.;.;.;.	.;.;.;.;.	0.380615	0.07526	4.173	0.39602496394885089	0.02743	0.01150	0.04159	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999987547343258	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.582	0.11122	-0.412000	0.07197	-3.618000	0.02653	-0.220000	0.07995	0.000000	0.06391	0.000000	0.08366	0.900000	0.43643	0.2511:0.3045:0.4444:0.0	2.532	0.04420	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.381	408.28	280	chrX	55146256	.	G	*,T	408.28	.	AC=15,1;AF=0.357,0.024;AN=42;BaseQRankSum=-7.340e-01;DP=7936;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=15,1;MLEAF=0.357,0.024;MQ=60.00;MQRankSum=0.00;QD=0.07;ReadPosRankSum=-1.616e+00;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:362,38,0:400:99:0|1:55146247_G_C:506,0,15066,1596,15180,16776:55146247	5	0	15	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L	.	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.127	B	0.271	B	0.153	U	1.000	N	1.495	L	0.27	T	-0.863	T	0.155	T	0.217	0.481	6.608	-1.26	-0.432	0.511	4.529	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.5238	145728.82	278	chrX	55146275	.	T	G	145728.82	.	AC=22;AF=0.524;AN=42;BaseQRankSum=-5.160e-01;DP=6743;ExcessHet=43.6797;FS=12.602;InbreedingCoeff=-0.9267;MLEAC=22;MLEAF=0.524;MQ=60.00;MQRankSum=0.00;QD=23.59;ReadPosRankSum=-3.687e+00;SOR=0.530	GT:AD:DP:GQ:PL	0/1:118,204:322:99:6282,0,2610	0	1	20	0
chrX	67545334	67545334	-	GCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCA:p.Q80_E81insQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/1:3,5,0,0,0,0,0:8:40:151,0,40,158,55,213,158,55,213,213,158,55,213,213,213,158,55,213,213,213,213,158,55,213,213,213,213,213	5	3	1	1
chrX	67545326	67545334	GCAGCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.180_188del:p.Q78_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/1:3,5,0,0,0,0,0:8:40:151,0,40,158,55,213,158,55,213,213,158,55,213,213,213,158,55,213,213,213,213,158,55,213,213,213,213,213	5	3	1	1
chrX	67545332	67545334	GCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.186_188del:p.Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/1:3,5,0,0,0,0,0:8:40:151,0,40,158,55,213,158,55,213,213,158,55,213,213,213,158,55,213,213,213,213,158,55,213,213,213,213,213	5	3	1	1
chrX	67545329	67545334	GCAGCA	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.183_188del:p.Q79_Q80del	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/1:3,5,0,0,0,0,0:8:40:151,0,40,158,55,213,158,55,213,213,158,55,213,213,213,158,55,213,213,213,213,158,55,213,213,213,213,213	5	3	1	1
chrX	67545334	67545334	-	GCAGCAGCAGCA	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.188_189insGCAGCAGCAGCA:p.Q80_E81insQQQQ	Androgen insensitivity, X-linked recessive;Androgen insensitivity, partial, with or without breast cancer, X-linked recessive;Hypospadias 1, X-linked, X-linked recessive;Spinal and bulbar muscular atrophy of Kennedy, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.525	6296.79	21	chrX	67545316	.	TGCAGCAGCAGCAGCAGCA	TGCAGCAGCAGCAGCAGCAGCA,TGCAGCAGCA,TGCAGCAGCAGCAGCA,T,TGCAGCAGCAGCA,TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA	6296.79	.	AC=8,4,4,3,3,2;AF=0.200,0.100,0.100,0.075,0.075,0.050;AN=40;BaseQRankSum=-3.660e-01;DP=771;ExcessHet=0.0448;FS=2.766;InbreedingCoeff=0.3207;MLEAC=8,4,4,3,3,2;MLEAF=0.200,0.100,0.100,0.075,0.075,0.050;MQ=60.00;MQRankSum=0.00;QD=32.29;ReadPosRankSum=0.00;SOR=1.030	GT:AD:DP:GQ:PL	0/1:3,5,0,0,0,0,0:8:40:151,0,40,158,55,213,158,55,213,213,158,55,213,213,213,158,55,213,213,213,213,158,55,213,213,213,213,213	5	3	1	1
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	.	9	1217	293	0	3	296	0.107444	.	.	706313	not_provided	MedGen:CN517202	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.22	T	0.842	P	0.1	B	0.514	U	1.000	N	0	N	-1.96	D	-0.795	T	0.216	T	0.391	-2.619	0	0.088	0.675	0.068	3.724	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	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.3095	5960.15	34	chrX	74591904	.	A	G	5960.15	.	AC=13;AF=0.310;AN=42;BaseQRankSum=-3.726e+00;DP=3755;ExcessHet=11.8493;FS=3.151;InbreedingCoeff=-0.4483;MLEAC=13;MLEAF=0.310;MQ=58.85;MQRankSum=-1.351e+01;QD=1.72;ReadPosRankSum=3.78;SOR=0.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:348,34:382:99:0|1:74591902_T_A:380,0,14510:74591902	8	0	13	0
chrX	75783727	75783727	C	T	exonic	MAGEE2	.	nonsynonymous SNV	MAGEE2:NM_138703:exon1:c.G1325A:p.R442H,	.	.	426	1090	5	1	0	7	0.00320073	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.91	P	0.285	B	.	.	1.000	N	0.205	N	3.55	T	-0.922	T	0.008	T	0.219	1.071	9.374	2.49	1.518	2.076	7.697	0.050	.	9.5e-05	0.00370861	0.0020	0.0001	0.0002	0.0003	0.0002	0.0002	0	0.0160	0.0020181	312	154602	rs147432059	0.0011	0.0011	0.0008	0.0019	0.0187	0.0011	0.0011	0.0177	0.0173	0.0001	0.0005	0.0004	6.621e-05	0	0.0034	0.0002	0.0011	0.0187	0.0005	0.0006	0.0004	0.0008	0.0165	0.0004	0.0004	0.0127	0.0113	3.246e-05	0	0	0	0.0006	0	0	0.0002	0	0.0165	0.129	0.26852	T	0.129	0.34837	T	0.91	0.50240	P	0.285	0.40506	B	.	.	.	.	0.999954	0.19072	N	0.345	0.11182	N	3.55	0.04746	T	-0.43	0.14390	N	0.067	0.03956	-0.9220	0.45279	T	0.008	0.02968	T	9	0.0064502954	0.00146	T	.	.	.	0.050	0.13987	.	.	0.378322506985	0.37446	0.3358669512056169	0.33499	0.0118808950475	0.01121	0.653296172619	0.60454	T	0.006686	0.06116	T	-0.723379	0.00026	T	-0.79758	0.01964	T	0.0268665140501054	0.01525	T	0.572043	0.20399	T	0.070626624	0.15572	0.10366731	0.24878	0.070626624	0.15571	0.10366731	0.24877	-5.01	0.36948	T	.	.	0.117	0.23918	B	.	.	1.868316	0.23735	16.13	0.97111271910827279	0.32413	0.46054	0.27675	N	AEFGI	.	.	.	.	.	.	.	.	.	0.00168018110995682	0.08770	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.49	2.49	0.29274	1.120000	0.30885	1.158000	0.24531	0.452000	0.21348	1.000000	0.71638	0.950000	0.28999	0.786000	0.37147	0.0:1.0:0.0:0.0	7.697	0.27766	222	0.91398	MAGE homology domain|MAGE homology 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	0.02381	2304.98	39	chrX	75783727	.	C	T	2304.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.448;DP=908;ExcessHet=0.0000;FS=5.209;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=-8.270e-01;SOR=0.433	GT:AD:DP:GQ:PL	0/1:96,91:187:99:2319,0,2508	20	0	1	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.942	P	0.401	B	0.000	D	1.000	D	1.27	L	2.32	T	-1.121	T	0.036	T	0.413	0.787	8.148	3.28	1.107	9.240	9.143	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	0.175	871.64	124	chrX	91436668	.	G	A	871.64	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.827e+00;DP=2002;ExcessHet=2.5830;FS=160.143;InbreedingCoeff=-0.2175;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.97;ReadPosRankSum=1.19;SOR=11.189	GT:AD:DP:GQ:PL	0/1:112,48:160:99:302,0,2015	13	0	7	1
chrX	97114819	97114819	A	G	exonic	DIAPH2	.	nonsynonymous SNV	DIAPH2:NM_006729:exon21:c.A2443G:p.I815V	Premature ovarian failure	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	0.601	N	-0.9	N	2.32	T	-0.996	T	0.013	T	0.086	-0.257	2.766	4.5	0.779	6.250	10.611	0.089	0.00857642868101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.109e-07	9.105e-07	0	2.753e-06	2.841e-05	0	0	.	.	0	2.841e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000051	0.53742	N	0.114260	0.601247	0.30939	N	-0.49	0.02651	N	2.32	0.16640	T	0.13	0.05503	N	0.137	0.13484	-0.9957	0.31109	T	0.013	0.05177	T	10	0.10447028	0.19262	T	0.008576	0.22680	T	0.089	0.25827	0.526	0.63115	0.294470080753	0.29051	0.15707408538366363	0.15628	0.399511255397	0.40976	0.447099298239	0.31548	T	0.091063	0.38719	T	-0.465193	0.00912	T	-0.905994	0.00461	T	0.677904546260834	0.39693	D	0.856914	0.54589	D	0.12729147	0.29791	0.0971755	0.23119	0.12729147	0.29790	0.0971755	0.23118	-1.767	0.02412	T	.	.	0.077	0.15251	B	.;.;.;.;.	.;.;.;.;.	2.495204	0.32200	18.97	0.54593527252072027	0.05169	0.95731	0.65914	D	AEFGI	.	.	.	.	.	.	.	.	.	0.992038220073657	0.32696	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.66	4.5	0.54382	4.460000	0.59844	9.220000	0.79290	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.9242:0.0:0.0758:0.0	10.611	0.44609	949	0.11373	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;Formin, FH2 domain|Formin, FH2 domain|Formin, FH2 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1136.98	33	chrX	97114819	.	A	G	1136.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.179e+00;DP=778;ExcessHet=0.0000;FS=4.012;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.880e-01;SOR=0.392	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1151,0,1068	20	0	1	0
chrX	100863573	100863573	G	A	exonic	NOX1	.	nonsynonymous SNV	NOX1:NM_007052:exon3:c.C164T:p.A55V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	1.000	D	2.855	M	-4.1	D	1.105	D	0.979	D	0.571	3.574	18.21	2.99	0.747	4.047	7.106	0.891	0.82296792257	0.0003	.	9.304e-05	0	0	0	0	0.0001	0	0.0001	0.0001035	16	154602	rs138268462	9.568e-05	9.743e-05	9.665e-05	9.373e-05	0.0015	8.054e-05	7.53e-05	0.0006	0.0004	0	2.848e-05	0.0009	0	0	0.0015	7.009e-05	0.0002	0.0002	6.331e-05	6.097e-05	5.143e-05	9.149e-05	7.548e-05	2.926e-05	2.087e-05	2.56e-05	1.486e-05	0	0	0	0.0011	0	0	0	7.548e-05	0	0	0.001	0.78490	D	0.004	0.76473	D	1.0	0.90584	D	0.996	0.84481	D	0.000008	0.62929	D	0.063546	0.999972	0.81001	D	3.23	0.89537	M	-4.1	0.99402	D	-3.2	0.69593	D	0.655	0.69737	1.105	0.99819	D	0.979	0.99339	D	10	0.44074252	0.58085	T	0.822968	0.98624	D	0.891	0.96873	.	.	0.889865992288	0.88877	0.7894174447553607	0.78893	0.205803190957	0.23002	0.514643073082	0.40872	T	0.685304	0.90799	D	0.138116	0.68146	D	0.220297	0.84187	D	0.539278833647242	0.34077	D	0.965603	0.88706	D	0.5560948	0.70294	0.6043171	0.77002	0.5560948	0.70295	0.6043171	0.77003	-6.615	0.51168	T	.	.	0.806	0.78969	P	.;.;.	.;.;.	3.916238	0.57146	23.8	0.99907618266491738	0.97801	0.89738	0.50397	D	AEFDBHCIJ	.	.	.	.	.	.	.	.	.	0.999841950198972	0.43971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.91	2.99	0.33673	4.349000	0.59163	5.258000	0.48113	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.1862:0.6189:0.1949	7.106	0.24545	79	0.96716	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1886.98	36	chrX	100863573	.	G	A	1886.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.290e-01;DP=858;ExcessHet=0.0000;FS=1.296;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=0.627;SOR=0.547	GT:AD:DP:GQ:PL	0/1:77,77:154:99:1901,0,1895	20	0	1	0
chrX	101269209	101269209	C	T	exonic	TAF7L	.	nonsynonymous SNV	TAF7L:NM_001168474:exon13:c.G1115A:p.R372H	.	.	2	1488	22	10	0	42	0.0139165	.	.	1196264	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.462	P	0.056	B	0.158	N	1.000	N	0.345	N	2.51	T	-1.048	T	0.016	T	0.097	0.232	5.255	-8.67	-1.745	-0.476	4.451	0.019	.	0.0069	0.00476821	0.0065	0.0040	0.0023	0.0021	0.0004	0.0076	0.0191	0.0122	0.0066558	1029	154602	rs41310729	0.0090	0.0091	0.0090	0.0091	0.0518	0.0089	0.0088	0.0462	0.0440	0.0033	0.0038	0.0166	0.0013	0.0008	0.0518	0.0095	0.0105	0.0108	0.0072	0.0073	0.0073	0.0070	0.0134	0.0068	0.0067	0.0116	0.0109	0.0028	0	0.0134	0.0188	0.0028	0.0005	0.0691	0.0085	0.0125	0.0119	0.541	0.06802	T	0.57	0.09361	T	0.0	0.36386	B	0.0	0.26147	B	0.157777	0.03014	N	1.843890	1	0.08975	N	0.69	0.16971	N	2.51	0.22881	T	0.41	0.04456	N	0.017	0.00308	-1.0478	0.15016	T	0.016	0.06664	T	10	0.002762109	0.00043	T	.	.	.	0.019	0.03383	.	.	0.082315109003	0.07666	0.012499554851310974	0.01208	0.328917698921	0.35008	0.22695505619	0.01750	T	0.026244	0.19463	T	-0.840468	0.00003	T	-0.969662	0.00206	T	0.000724680391291421	0.00007	T	0.556944	0.20320	T	0.015645096	0.00150	0.031745635	0.01806	0.015645096	0.00150	0.031745635	0.01806	-3.2	0.12480	T	.	.	0.064	0.01762	B	.;.;.	.;.;.	-1.079520	0.00665	0.019	0.71253380426068835	0.09567	0.00356	0.01829	N	AEFGI	.	.	.	.	.	.	.	.	.	0.999645926751354	0.41316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.33	-8.67	0.00748	-0.483000	0.06616	-2.289000	0.03945	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0979:0.4206:0.3362:0.1452	4.451	0.11041	124	0.95048	.;.;.	.	.	.	.	.	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	0.04762	1337.11	33	chrX	101269209	.	C	T	1337.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.357;DP=757;ExcessHet=0.1072;FS=1.435;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.61;ReadPosRankSum=0.718;SOR=0.538	GT:AD:DP:GQ:PL	0/1:32,28:60:99:575,0,782	19	0	2	0
chrX	102749722	102749722	C	G	exonic	ARMCX5-GPRASP2;BHLHB9	.	nonsynonymous SNV	BHLHB9:NM_001142530:exon2:c.C727G:p.P243A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.437	B	0.079	B	0.207	N	1.000	N	0	N	2.76	T	-0.954	T	0.011	T	0.145	0.411	6.234	2.66	0.582	0.138	5.547	0.010	0.024118779609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.487e-06	0.0004	8.183e-06	0	5.965e-06	1.97e-06	1.3e-06	1.75e-06	1.27e-06	0	0	0	0	0	0	5.965e-06	2.177e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.064	0.44905	T	0.437	0.35811	B	0.079	0.28749	B	0.207240	0.16453	N	0.512028	1	0.08975	N	2.77	0.80896	M	2.76	0.11515	T	-0.53	0.16393	N	0.107	0.10340	-0.9536	0.40345	T	0.011	0.04274	T	9	0.06706047	0.09288	T	0.024119	0.47104	T	0.010	0.01040	0.178	0.08503	0.107399877778	0.10242	0.12030608437628493	0.11957	0.214031236135	0.23940	0.31852465868	0.13198	T	0.00655	0.05980	T	-0.411924	0.01930	T	-0.829477	0.01271	T	0.0871273726224899	0.10873	T	0.59504	0.22051	T	0.03550824	0.04193	0.066455446	0.13616	0.03550824	0.04193	0.066455446	0.13616	-3.285	0.13545	T	.	.	0.076	0.06024	B	.;.;.;.;.	.;.;.;.;.	0.871581	0.12444	8.978	0.92577131756413855	0.22034	0.05718	0.11642	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.00102710266264549	0.08137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5	2.66	0.30672	0.086000	0.14780	.	.	0.597000	0.34315	0.008000	0.17931	0.069000	0.22184	0.449000	0.27873	0.0:0.6932:0.1955:0.1113	5.547	0.16356	253	0.90069	.;.;.;.;.	.	.	.	.	.	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	0.03846	106.6	33	chrX	102749722	.	C	G	106.6	.	AC=1;AF=0.038;AN=26;BaseQRankSum=-2.588e+00;DP=1241;ExcessHet=0.0000;FS=177.643;InbreedingCoeff=-0.1352;MLEAC=1;MLEAF=0.038;MQ=60.00;MQRankSum=0.00;QD=0.93;ReadPosRankSum=1.27;SOR=7.568	GT:AD:DP:GQ:PL	0/1:93,22:118:99:117,0,2907	12	0	1	8
chrX	102749723	102749723	C	G	exonic	ARMCX5-GPRASP2;BHLHB9	.	nonsynonymous SNV	BHLHB9:NM_001142530:exon2:c.C728G:p.P243R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	P	0.467	P	0.207	N	1.000	N	-0.345	N	2.77	T	-1.023	T	0.011	T	0.159	-0.102	3.501	0.643	-0.016	0.853	0.974	0.071	0.0208531724619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.463e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.008	0.67890	D	0.845	0.46707	P	0.467	0.46683	P	0.207240	0.16453	N	0.512028	1	0.08975	N	2.77	0.80896	M	2.77	0.11407	T	-0.32	0.12283	N	0.204	0.22742	-1.0229	0.22769	T	0.011	0.04369	T	9	0.10330346	0.18984	T	0.020853	0.43523	T	0.071	0.20720	0.179	0.08626	0.0986583533028	0.09354	0.1323248924144818	0.13157	0.398697379634	0.40922	0.338050365448	0.16146	T	0.012816	0.11196	T	-0.347705	0.04873	T	-0.73723	0.04008	T	0.203076422214508	0.20584	T	0.569643	0.20265	T	0.060111605	0.12295	0.08432909	0.19391	0.060111605	0.12295	0.08432909	0.19391	-3.4	0.15057	T	.	.	0.098	0.16363	B	.;.;.;.;.	.;.;.;.;.	2.108049	0.26822	17.25	0.95735756095129698	0.27684	0.05020	0.10801	N	AEFDGBI	.	.	.	.	.	.	.	.	.	4.13537104595771E-4	0.06899	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5	0.643	0.16942	1.132000	0.31031	.	.	0.597000	0.34315	0.008000	0.17931	0.030000	0.21233	0.540000	0.29938	0.1862:0.4232:0.1778:0.2128	0.974	0.01332	253	0.90069	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.025	100.71	33	chrX	102749723	.	C	G	100.71	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-2.935e+00;DP=1211;ExcessHet=0.0000;FS=73.077;InbreedingCoeff=-0.0548;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=0.82;ReadPosRankSum=1.36;SOR=6.272	GT:AD:DP:GQ:PL	0/1:101,22:123:99:114,0,2932	19	0	1	1
chrX	134821493	134821493	C	T	exonic	FAM122C	.	nonsynonymous SNV	FAM122C:NM_001170782:exon4:c.C214T:p.R72W,	.	.	433	1088	0	1	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0013245	0.0013	0	0	0	0	0	0	0.0042	0.0002717	42	154602	rs769323901	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0030	0.0029	0	0.0001	0	0	0	0.0002	1.225e-06	0.0002	0.0035	6.316e-05	9.576e-05	5.143e-05	9.076e-05	0.0019	2.92e-05	2.083e-05	0.0007	0.0005	0	0	9.756e-05	0	0	0	0	1.887e-05	0	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02381	1771.98	40	chrX	134821493	.	C	T	1771.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.24;DP=972;ExcessHet=0.0000;FS=1.294;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=-9.200e-02;SOR=0.857	GT:AD:DP:GQ:PL	0/1:90,69:159:99:1786,0,2100	20	0	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.741	P	0.621	P	0.000	D	0.998	D	2.095	M	1.12	T	-0.845	T	0.185	T	0.728	2.907	15.69	4.88	2.356	4.577	16.741	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.381	903.93	74	chrX	135580144	.	G	C	903.93	.	AC=16;AF=0.381;AN=42;BaseQRankSum=-1.040e+00;DP=1536;ExcessHet=20.9642;FS=227.873;InbreedingCoeff=-0.6099;MLEAC=16;MLEAF=0.381;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=0.503;SOR=12.634	GT:AD:DP:GQ:PL	0/1:40,30:79:99:155,0,606	5	0	16	0
chrX	136878005	136878005	G	T	exonic	RBMX	.	nonsynonymous SNV	RBMX:NM_002139:exon4:c.C298A:p.P100T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.594	P	0.164	B	0.000	U	1.000	D	1.73	L	-0.81	T	-0.745	T	0.262	T	0.408	2.906	15.68	4.5	1.038	5.216	11.535	0.190	0.0513297472878	.	.	0.0005	0	0	0	0	0	0	0.0043	0.0003105	48	154602	rs758107731	0.0001	0.0002	0.0001	0.0002	0.0028	0.0001	0.0001	0.0025	0.0023	0	0	0	0	0	0.0005	1.189e-06	0.0001	0.0028	6.276e-05	9.58e-05	6.426e-05	5.93e-05	0.0026	2.904e-05	2.073e-05	0.0012	0.0009	0	0	0	0	0	0	0	0	0	0.0026	0.296	0.14694	T	0.544	0.17217	T	0.594	0.39171	P	0.164	0.34953	B	0.000044	0.53742	U	0.076410	0.999872	0.81001	D	1.525	0.38595	L	-0.81	0.73949	T	-0.19	0.14588	N	0.282	0.31925	-0.7452	0.58185	T	0.262	0.63318	T	10	0.009608328	0.00216	T	0.05133	0.64618	D	0.190	0.46781	0.303	0.27164	0.7809007154	0.77887	0.5726442724491204	0.57192	1.84610466247	0.92230	0.606217861176	0.53782	T	0.014277	0.12184	T	-0.364674	0.03873	T	-0.30122	0.44596	T	0.0572123973585771	0.06723	T	0.952605	0.81930	D	0.18985805	0.40546	0.17775841	0.40399	0.18985805	0.40546	0.17775841	0.40398	-4.751	0.34015	T	.	.	0.116	0.23430	B	.;.	.;.	3.758855	0.53924	23.4	0.99444462407844836	0.64921	0.94251	0.60575	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999996568235534	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.37	4.5	0.54382	5.201000	0.64999	6.436000	0.55643	0.670000	0.69193	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0854:0.0:0.9146:0.0	11.535	0.49885	681	0.59854	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1238.98	35	chrX	136878005	.	G	T	1238.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=877;ExcessHet=0.0000;FS=4.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.70;MQRankSum=1.79;QD=11.26;ReadPosRankSum=-2.100e-02;SOR=1.175	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1253,0,1499	20	0	1	0
chrX	141905984	141905984	C	G	exonic	MAGEC1	.	nonsynonymous SNV	MAGEC1:NM_005462:exon4:c.C580G:p.P194A,	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.012	B	0.0	B	.	.	1.000	N	0	N	4.47	T	-0.903	T	0.004	T	0.092	-2.118	0.006	.	-2.490	-3.104	0.132	0.160	0.00949479768985	.	.	0.0030	0.0004	0.0006	0.0014	0.0016	0.0047	0	0.0008	0.000461	12	26028	rs78963072	0.0023	0.0025	0.0027	0.0015	0.0032	0.0022	0.0022	0.0019	0.0016	0.0003	0.0005	0.0411	0.0011	0.0014	0.0032	0.0017	0.0041	0.0006	0.0022	0.0025	0.0025	0.0015	0.0020	0.0020	0.0019	0.0017	0.0016	0.0005	0	0.0010	0.0394	0.0011	0.0010	0	0.0020	0.0007	0.0008	0.0	0.91255	D	0.058	0.46182	T	0.012	0.16265	B	0.0	0.01387	B	.	.	.	.	1	0.20721	N	-0.255	0.03828	N	4.47	0.02084	T	-0.66	0.19085	N	0.042	0.01498	-0.9029	0.47684	T	0.004	0.01125	T	8	0.0047519505	0.00100	T	0.009495	0.24855	T	0.160	0.41473	.	.	0.0482279557977	0.04254	0.00836871272749026	0.00800	.	.	0.453550577164	0.32429	T	0.004747	0.04164	T	-0.823433	0.00005	T	-0.959885	0.00233	T	0.00732511625089024	0.00084	T	0.281272	0.04917	T	0.033229418	0.03500	0.095803946	0.22736	0.033229418	0.03499	0.095803946	0.22735	-4.336	0.28678	T	.	.	0.183	0.39714	B	.	.	0.253917	0.06330	2.790	0.43679918256768041	0.03305	0.00985	0.03747	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.00208082475822854	0.09135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.126000	0.10539	.	.	-2.719000	0.00205	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.2528:0.2473:0.2524:0.2474	0.132	0.00069	987	0.02648	.	.	.	.	.	.	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	1	0	0	0	0.07143	11182.66	622	chrX	141905984	.	C	G	11182.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.53;DP=5419;ExcessHet=0.0000;FS=2.690;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=59.70;MQRankSum=-8.200e-02;QD=20.63;ReadPosRankSum=1.52;SOR=0.646	GT:AD:DP:GQ:PL	0/1:166,155:321:99:4077,0,4335	19	1	1	0
chrX	141906385	141906385	C	0	exonic	MAGEC1	.	.	.	.	.	532	287	199	469	35	1172	0.664524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7105	95143.29	325	chrX	141906385	.	C	G,*	95143.29	.	AC=25,3;AF=0.658,0.079;AN=38;BaseQRankSum=1.37;DP=4666;ExcessHet=0.0001;FS=0.000;InbreedingCoeff=0.6889;MLEAC=27,3;MLEAF=0.711,0.079;MQ=57.01;MQRankSum=-5.940e-01;QD=25.67;ReadPosRankSum=0.391;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,283,0:283:99:.:.:8388,847,0,8388,847,8388	4	11	2	2
chrX	149715766	149715766	A	C	exonic	MAGEA11	.	nonsynonymous SNV	MAGEA11:NM_001011544:exon5:c.A193C:p.I65L	.	.	430	1075	11	6	0	23	0.0105844	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.321	B	0.06	B	.	.	1.000	N	0.55	N	4.53	T	-0.901	T	0.006	T	0.239	0.710	7.784	0.88	0.587	0.477	.	0.018	.	0.0014	0.000264901	0.0020	0.0004	0.0032	0	0	0.0020	0.0101	0.0041	0.0018952	293	154602	rs147749342	0.0022	0.0022	0.0021	0.0022	0.0106	0.0021	0.0021	0.0081	0.0072	0.0003	0.0026	0.0033	0	2.49e-05	0.0106	0.0021	0.0025	0.0047	0.0015	0.0016	0.0017	0.0012	0.0034	0.0014	0.0013	0.0021	0.0020	0.0002	0	0.0016	0.0011	0	0.0002	0.0046	0.0025	0.0026	0.0034	0.013	0.53900	D	0.381	0.38305	T	0.321	0.33029	B	0.06	0.26717	B	.	.	.	.	1	0.08975	N	0	0.06538	N	4.18	0.02743	T	-0.43	0.15379	N	0.047	0.05670	-0.9015	0.47835	T	0.006	0.02055	T	8	0.0061427653	0.00138	T	.	.	.	0.018	0.03083	.	.	0.082315109003	0.07666	0.07611475215732207	0.07547	0.260128891351	0.28580	0.457748889923	0.33001	T	0.013082	0.11383	T	-0.755777	0.00016	T	-0.859554	0.00848	T	0.00487596827098097	0.00052	T	0.443756	0.12347	T	0.16413273	0.36600	0.12596667	0.30345	0.16413273	0.36600	0.12596667	0.30344	-2.203	0.04055	T	.	.	0.152	0.35372	B	.;.;.	.;.;.	0.487042	0.08561	5.329	0.87150379569825132	0.17024	0.03665	0.08926	N	AEFDGBCI	.	.	.	.	.	.	.	.	.	0.364461467694814	0.19809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	0.88	0.18296	-0.670000	0.05357	.	.	0.561000	0.28422	0.000000	0.06391	0.000000	0.08366	0.127000	0.19450	.	.	.	681	0.59854	.;.;.	.	.	.	.	.	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	0.02381	2507.98	33	chrX	149715766	.	A	C	2507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=1074;ExcessHet=0.0000;FS=0.533;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.73;ReadPosRankSum=-1.733e+00;SOR=0.621	GT:AD:DP:GQ:PL	0/1:102,95:197:99:2522,0,2743	20	0	1	0
chrX	153398281	153398281	-	CCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	exonic	PNMA6E	.	nonframeshift insertion	PNMA6E:NM_001367770:exon2:c.568_569insCAGGAGGCGCAGGTGAGGCAGGAGCAGCAGGTGAGG:p.E189_G190insAGGAGEAGAAGE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0071	0.0018	0.0059	0.0092	0.0131	0.0066	0.0065	0.0109	0.0101	0.0013	0.0131	0.0105	0	0.0103	0.0108	0.0075	0.0103	0.0011	0.0002	0.0006	0.0003	0	0.0003	0.0001	8.951e-05	0.0001	9.153e-05	8.465e-05	0	0.0003	0	0	0.0007	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1152.72	57	chrX	153398281	.	C	CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG,G	1152.72	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=2.88;DP=852;ExcessHet=0.0000;FS=5.303;InbreedingCoeff=0.5838;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.23;MQRankSum=-2.910e+00;QD=19.21;ReadPosRankSum=-4.194e+00;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,24,0:24:66:965,66,0,971,72,978	19	1	0	0
chrX	153398281	153398281	C	G	exonic	PNMA6E	.	nonsynonymous SNV	PNMA6E:NM_001367770:exon2:c.G569C:p.G190A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001191	31	26028	rs797035894	0.0041	0.0025	0.0063	0	0.0052	0.0038	0.0036	0.0041	0.0039	0.0045	0.0052	0.0030	0.0031	0.0022	0.0028	0.0046	0.0059	0.0018	0.0021	0.0020	0.0028	0	0.0040	0.0018	0.0017	0.0023	0.0019	0.0017	0	0.0040	0.0031	0.0008	0.0034	0.0217	0.0019	0.0036	0.0039	.	.	.	0.265	0.22694	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.05799	.	.	.	.	.	.	.	0.044147044	0.03340	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001579	0.01021	T	.	.	.	.	.	.	.	.	.	0.972428	0.90037	D	0.026739683	0.01771	0.10099799	0.24165	0.026739683	0.01770	0.10099799	0.24164	2.084	0.00048	T	.	.	0.051	0.00187	B	.	.	-2.068296	0.00087	0.002	0.29728045559910354	0.01591	0.00549	0.02518	N	AEFBCI	.	.	.	.	.	.	.	.	.	0.999655255135498	0.41424	.	.	.	.	.	.	.	.	.	.	.	.	0.046323	0.05263	2.65	-5.3	0.02527	-4.426000	0.00270	.	.	-5.819000	0.00007	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2972:0.5741:0.1287	10.162	0.42031	228	0.91137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1152.72	57	chrX	153398281	.	C	CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG,G	1152.72	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=2.88;DP=852;ExcessHet=0.0000;FS=5.303;InbreedingCoeff=0.5838;MLEAC=2,1;MLEAF=0.048,0.024;MQ=57.23;MQRankSum=-2.910e+00;QD=19.21;ReadPosRankSum=-4.194e+00;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,24,0:24:66:965,66,0,971,72,978	19	1	0	0
chrX	154928659	154928659	G	T	exonic	F8	.	nonsynonymous SNV	F8:NM_000132:exon14:c.C5131A:p.Q1711K,	Hemophilia A, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.89	P	0.402	B	0.087	N	1.000	N	1.655	L	-5.19	D	0.894	D	0.891	D	0.116	3.331	17.21	3.05	0.841	1.765	8.686	0.417	0.580312381874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.184e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.015	0.61642	D	0.89	0.48942	P	0.402	0.44547	B	0.087023	0.20555	N	0.525914	0.526319	0.31527	N	2.11	0.58565	M	-5.19	0.98838	D	-2.11	0.48020	N	0.254	0.28732	0.894	0.95585	D	0.891	0.96375	D	10	0.4315882	0.57526	T	0.580312	0.96237	D	0.417	0.72705	0.325	0.30711	0.909904499923	0.90900	0.599139701443422	0.59844	0.0576120744431	0.06381	0.435637295246	0.29980	T	0.466501	0.80122	T	0.0217563	0.54619	T	-0.206525	0.54027	T	0.476094104983387	0.31754	T	0.750425	0.37198	T	0.4894178	0.66468	0.28348273	0.54341	0.4894178	0.66469	0.28348273	0.54340	-4.423	0.29867	T	0.3898220600648977	0.48314	0.111	0.21466	B	.	.	2.782803	0.36562	20.3	0.99445289241789481	0.64971	0.62169	0.31701	D	AEFBI	.	.	.	.	.	.	.	.	.	1.41832043686386E-4	0.05573	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.01	3.05	0.34272	1.386000	0.34025	5.577000	0.48958	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.587:0.413	8.686	0.33402	91	0.96221	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	104.57	35	chrX	154928659	.	G	T	104.57	.	AC=1;AF=0.071;AN=14;BaseQRankSum=-5.254e+00;DP=3685;ExcessHet=0.0000;FS=215.366;InbreedingCoeff=-0.2354;MLEAC=2;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=0.39;ReadPosRankSum=2.90;SOR=8.222	GT:AD:DP:GQ:PL	0/1:206,60:266:99:110,0,4641	6	0	1	14