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	NSWES963	WT	HH	HZ	NC
chr1	964514	964514	C	A	exonic	KLHL17	.	nonsynonymous SNV	KLHL17:NM_198317:exon11:c.C1684A:p.P562T,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.258	B	0.098	B	0.000	D	1.000	D	2.835	M	-1.25	T	0.018	D	0.491	T	0.601	1.580	11.24	4.82	2.376	4.771	18.271	0.464	0.157929298807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.13834	T	0.185	0.28958	T	0.258	0.31443	B	0.098	0.30479	B	0.000208	0.47681	D	0.186748	1	0.81001	D	3.02	0.86243	M	-1.25	0.79072	T	-0.69	0.19720	N	0.691	0.69649	0.018	0.82625	D	0.491	0.80648	T	10	0.68266016	0.71373	D	0.157929	0.83842	D	0.464	0.76023	0.489	0.57415	0.896325372	0.89529	0.2854711482643828	0.28460	.	.	0.840892612934	0.88230	D	0.258844	0.63004	T	0.0942172	0.63662	D	-0.10244	0.63209	T	0.978278815746307	0.72246	D	0.949105	0.80429	D	0.13519858	0.31385	0.09050622	0.21226	0.13519858	0.31385	0.09050622	0.21226	-6.473	0.50078	T	0.2648727734121405	0.35717	0.380	0.58416	A	.	.	2.518021	0.32531	19.07	0.93009551941875068	0.22602	0.95999	0.67077	D	AEFBI	0.594228	0.58924	D	0.133725111346278	0.48043	3.021629	0.165455885546709	0.47966	3.019133	0.999994206069141	0.74766	0.732398	0.92422	0	0.643519	0.57511	0	0.723109	0.80598	0	0.727631	0.95156	0	.	.	4.82	4.82	0.61641	3.240000	0.51066	.	.	0.597000	0.34315	0.995000	0.38783	1.000000	0.68203	0.022000	0.11911	0.0:1.0:0.0:0.0	18.271	0.90007	923	0.18507	.	.	.	.	.	.	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	1989.98	33	chr1	964514	.	C	A	1989.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.378;DP=863;ExcessHet=0.0000;FS=3.134;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.41;ReadPosRankSum=5.78;SOR=1.122	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,53:85:99:0|1:964514_C_A:2004,0,750:964514	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	1/1:1,85,0:86:99:3687,213,0,3690,255,3733	10	3	7	0
chr1	1968772	1968772	C	T	exonic	CFAP74	.	nonsynonymous SNV	CFAP74:NM_001304360:exon11:c.G1108A:p.E370K,	.	.	406	1093	23	0	0	23	0.010412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.319	B	0.067	B	0.013	N	1.000	D	1.01	L	.	.	-1.099	T	0.065	T	0.204	1.102	9.497	1.72	0.298	1.046	7.273	0.077	.	0.0042	0.00339457	0.0045	0.0006	0.0029	0	0.0014	0.0060	0.0078	0.0058	0.004379	677	154602	rs78791970	0.0050	0.0050	0.0049	0.0051	0.0208	0.0049	0.0048	0.0178	0.0166	0.0009	0.0035	0.0142	2.519e-05	0.0015	0.0208	0.0052	0.0053	0.0055	0.0039	0.0039	0.0044	0.0033	0.0056	0.0036	0.0035	0.0051	0.0050	0.0009	0.0066	0.0035	0.0159	0	0.0009	0.0170	0.0056	0.0066	0.0052	.	.	.	0.1	0.38742	T	0.037	0.20876	B	0.039	0.23607	B	0.013077	0.28961	N	0.272209	0.999422	0.21215	N	.	.	.	.	.	.	.	.	.	0.205	0.22742	-1.0989	0.04227	T	0.065	0.26737	T	9	0.003573656	0.00065	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.44038742271592174	0.43955	.	.	0.449175357819	0.31830	T	0.033186	0.22810	T	-0.537508	0.00347	T	-0.540865	0.18211	T	0.00337827463787867	0.00036	T	0.581242	0.21054	T	0.01893156	0.00418	0.04626207	0.06409	0.01893156	0.00417	0.04626207	0.06409	-5.249	0.39435	T	.	.	0.103	0.18580	B	.	.	0.668202	0.10368	7.093	0.76055038576179967	0.11315	0.40386	0.26425	N	AEFDBI	.	.	.	-1.07651452727169	0.07078	0.3277511	-1.0766580397644	0.08160	0.4000629	0.495151486832356	0.20896	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.562822	0.20929	0	0.160397	0.28115	3.67	1.72	0.23498	0.841000	0.27267	1.248000	0.25151	-1.854000	0.00568	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.7254:0.1717:0.1029	7.273	0.25441	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	0.04762	4061.11	170	chr1	1968772	.	C	T	4061.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.92;DP=2571;ExcessHet=0.1072;FS=0.847;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.46;ReadPosRankSum=2.29;SOR=0.637	GT:AD:DP:GQ:PL	0/1:81,75:156:99:1905,0,1974	19	0	2	0
chr1	7933282	7933282	T	C	exonic	TNFRSF9	.	nonsynonymous SNV	TNFRSF9:NM_001561:exon7:c.A559G:p.I187V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	0.002	B	0.001	B	0.031	N	1.000	N	0.46	N	3.34	T	-0.965	T	0.008	T	0.041	-0.002	4.003	-6.6	-1.007	-4.202	1.562	0.009	0.00270495129526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.06147	T	0.002	0.09854	B	0.001	0.04355	B	0.030551	0.01722	N	2.226600	1	0.08975	N	0.22	0.09567	N	3.34	0.38883	T	-0.08	0.08187	N	0.064	0.03613	-0.9649	0.38230	T	0.008	0.02926	T	10	0.039113462	0.02377	T	0.002705	0.05550	T	0.009	0.00846	0.276	0.22845	0.0954503805726	0.09146	0.14244755294639133	0.14167	0.0755766024316	0.08479	0.303215026855	0.10881	T	0.091535	0.38816	T	-0.396887	0.02426	T	-0.807877	0.01713	T	0.0528059709509316	0.05985	T	0.343166	0.08297	T	0.014398486	0.00092	0.024658427	0.00489	0.014398486	0.00092	0.024658427	0.00489	-3.107	0.11376	T	.	.	0.082	0.20117	B	.;.;.	.;.;.	-2.656894	0.00022	0.001	0.31864493878579497	0.01817	0.00640	0.02800	N	AEFBI	0.053752	0.09712	N	-1.55403076293908	0.01511	0.06599016	-1.62642963533454	0.01502	0.06801238	0.1723792661722	0.17755	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.43	-6.6	0.01657	-4.246000	0.00304	-7.248000	0.01198	-0.123000	0.13640	0.000000	0.06391	0.000000	0.08366	0.131000	0.19607	0.269:0.3775:0.1367:0.2167	1.562	0.02441	804	0.43891	.;.;.	.	.	.	.	.	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	0.2778	864.06	40	chr1	7933282	.	T	C	864.06	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-3.070e-01;DP=693;ExcessHet=6.5132;FS=112.254;InbreedingCoeff=-0.4232;MLEAC=12;MLEAF=0.333;MQ=60.00;MQRankSum=0.00;QD=2.69;ReadPosRankSum=0.238;SOR=9.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,5:19:51:.:.:51,0,183	8	0	10	3
chr1	9015162	9015162	G	A	exonic	SLC2A7	.	nonsynonymous SNV	SLC2A7:NM_207420:exon6:c.C670T:p.R224C,	.	.	410	1102	9	1	0	11	0.00496614	.	.	2805661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	0.994	D	3.99	H	-1.32	T	0.504	D	0.680	D	0.835	2.517	14.38	0.751	0.335	0.767	11.737	0.692	.	0.0055	0.00299521	0.0073	0.0014	0.0012	0	0.0271	0.0099	0.0041	0.0020	0.0061189	946	154602	rs35776221	0.0073	0.0073	0.0074	0.0071	0.0117	0.0071	0.0071	0.0094	0.0086	0.0016	0.0010	0.0003	0	0.0159	0.0117	0.0082	0.0054	0.0018	0.0055	0.0055	0.0050	0.0060	0.0077	0.0052	0.0051	0.0072	0.0069	0.0013	0.0154	0.0018	0.0003	0	0.0186	0.0034	0.0077	0.0052	0.0017	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	0.993909	0.42093	D	3.685	0.94485	H	-1.32	0.79761	T	-7.58	0.95276	D	0.665	0.67391	0.504	0.90607	D	0.680	0.88940	D	10	0.019767672	0.00446	T	.	.	.	0.692	0.88820	.	.	0.475034548194	0.47131	0.6635891204751514	0.66295	0.430975893944	0.43319	0.42778134346	0.28905	T	0.494518	0.81763	T	0.00615206	0.52499	T	0.242175	0.85253	D	0.0724600936524277	0.08993	T	0.935906	0.76011	D	0.93406415	0.94645	0.8137064	0.89136	0.93406415	0.94645	0.8137064	0.89137	-8.721	0.65883	D	.	.	0.336	0.55617	B	.	.	3.845254	0.55667	23.6	0.99817195681623117	0.90061	0.73502	0.35953	D	AEFDBI	0.346592	0.44136	N	0.250270834194908	0.53653	3.533174	-0.020040016026181	0.38810	2.291965	0.116909770398413	0.16789	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.32	0.751	0.17541	0.580000	0.23505	-0.190000	0.11047	0.618000	0.50648	0.071000	0.22100	0.000000	0.08366	0.979000	0.57723	0.0:0.0:0.4281:0.5719	11.737	0.51036	917	0.20147	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	935.98	37	chr1	9015162	.	G	A	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.51;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.76;ReadPosRankSum=-1.309e+00;SOR=0.804	GT:AD:DP:GQ:PL	0/1:32,36:68:99:950,0,724	20	0	1	0
chr1	11045513	11045513	C	G	exonic	MASP2	.	nonsynonymous SNV	MASP2:NM_006610:exon4:c.G439C:p.G147R	MASP2 deficiency, Autosomal recessive	.	1	1519	2	0	0	2	0.000657895	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.947	P	0.583	P	0.022	N	0.998	D	2.185	M	-1.58	D	0.301	D	0.573	D	0.375	4.305	22.6	4.23	2.052	7.493	15.729	0.518	0.203403829841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.135	0.60972	T	0.947	0.53479	P	0.583	0.50264	P	0.022426	0.26635	N	0.352416	0.998206	0.44627	D	1.115	0.28702	L	-1.58	0.81987	D	-1.54	0.57275	N	0.323	0.37613	0.301	0.87570	D	0.573	0.84554	D	10	0.39248717	0.54992	T	0.203404	0.86874	D	0.518	0.79461	0.618	0.75232	0.880728160374	0.87955	0.4564001750243396	0.45558	0.176759458968	0.19889	0.385195732117	0.22990	T	0.333397	0.70326	T	0.0315271	0.55928	T	-0.19249	0.55357	T	0.912825882434845	0.56887	D	0.757524	0.38090	T	0.39317828	0.60257	0.274312	0.53358	0.39317828	0.60257	0.274312	0.53357	-7.61	0.58381	D	.	.	0.109	0.38462	B	.;.	.;.	3.446166	0.47969	22.5	0.9986274007794983	0.94093	0.99432	0.95955	D	AEFDBI	0.930807	0.91867	D	0.186901142048641	0.50571	3.245744	0.174444271678738	0.48450	3.060825	0.999999999999967	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.459711	0.06710	0	0.613276	0.41899	0	.	.	4.23	4.23	0.49319	5.932000	0.69838	3.972000	0.40833	0.594000	0.32500	0.825000	0.30060	0.251000	0.23919	0.345000	0.25546	0.0:1.0:0.0:0.0	15.729	0.77552	799	0.44747	EGF-like calcium-binding domain|EGF-like calcium-binding, conserved site|EGF-like calcium-binding domain|EGF-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	0	0	0	0	0	0	0	0.02381	851.98	36	chr1	11045513	.	C	G	851.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.713;DP=756;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.08;ReadPosRankSum=1.38;SOR=0.559	GT:AD:DP:GQ:PL	0/1:21,32:53:99:866,0,497	20	0	1	0
chr1	11801164	11801164	C	A	exonic	MTHFR	.	stopgain	MTHFR:NM_001330358:exon3:c.G595T:p.G199X	Homocystinuria due to MTHFR deficiency, Autosomal recessive	YES	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	12.783	46	5.66	2.668	7.175	18.320	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.62929	D	0.098581	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.923	0.92667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.60412	0.97692	D	0.63	0.97656	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;Recessive;.;.;.;.	.;High;High;.;.;.;.	10.933676	0.99877	50	0.99311217065053148	0.59017	0.94183	0.60365	D	AEFGBCI	0.247806	0.36832	N	1.14629666135424	0.98903	19.81644	0.999139086605694	0.98610	18.78838	1.0	0.98316	0.566229	0.32551	0	0.615513	0.52658	0	0.554053	0.18673	1	0.636168	0.56350	0	.	.	5.66	5.66	0.87293	7.254000	0.77751	7.624000	0.62436	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.892000	0.42986	0.0:1.0:0.0:0.0	18.320	0.90175	895	0.25842	.;.;.;.;.;.;.	.	.	.	.	.	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	1641.98	37	chr1	11801164	.	C	A	1641.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.887e+00;DP=816;ExcessHet=0.0000;FS=0.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=0.659;SOR=0.793	GT:AD:DP:GQ:PL	0/1:60,61:121:99:1656,0,1772	20	0	1	0
chr1	12329888	12329888	T	G	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_015378:exon37:c.T8257G:p.S2753A	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.994	D	0.97	D	0.000	D	1.000	D	1.075	L	0.8	T	-0.931	T	0.185	T	0.619	2.287	13.61	5.76	2.323	7.285	16.379	0.138	0.00461064539889	.	.	8.245e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770734153	1.368e-06	1.368e-06	0	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.64786	D	0.002	0.09854	B	0.006	0.16460	B	0.000001	0.62929	D	0.101713	0.999997	0.58761	D	1.475	0.37068	L	.	.	.	.	.	.	0.583	0.64818	-0.9312	0.43963	T	0.185	0.53496	T	10	0.24350363	0.41565	T	0.004611	0.11409	T	.	.	0.453	0.51612	0.043077524339	0.03247	0.5333756168356184	0.53262	.	.	0.772286057472	0.77768	T	0.079745	0.36201	T	0.0960119	0.63858	D	-0.099862	0.63408	T	0.841878413810794	0.49481	D	0.856914	0.54589	D	0.14174919	0.32649	0.19423567	0.43036	0.14174919	0.32649	0.19423567	0.43035	-4.844	0.35464	T	0.6125893004765262	0.68030	0.105	0.19276	B	.;.	.;.	3.731354	0.53380	23.4	0.9687719170063096	0.31442	0.99055	0.90567	D	AEFBI	0.752490	0.69297	D	0.127517082509726	0.47749	2.996338	0.296868189892344	0.55357	3.698744	0.999999854027001	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.76	5.76	0.90726	7.212000	0.77445	7.941000	0.75483	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.379	0.83266	220	0.91454	.;.	.	.	.	.	.	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	1364.98	41	chr1	12329888	.	T	G	1364.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.020e-01;DP=830;ExcessHet=0.0000;FS=3.150;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.34;ReadPosRankSum=1.13;SOR=1.000	GT:AD:DP:GQ:PL	0/1:71,61:132:99:1379,0,1730	20	0	1	0
chr1	12363180	12363180	G	A	exonic	VPS13D	.	nonsynonymous SNV	VPS13D:NM_018156:exon51:c.G10306A:p.V3436I	.	.	434	1086	2	0	0	2	0.000919963	.	.	1931040	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.46	T	0.067	B	0.026	B	0.079	N	1.000	D	1.295	L	1.56	T	-1.084	T	0.047	T	0.101	1.617	11.36	2.17	0.457	1.096	4.798	0.011	0.00424919119436	.	0.00139776	0.0004	0	0.0002	0	0	2.997e-05	0.0055	0.0024	0.0003622	56	154602	rs535010889	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	2.987e-05	0	0	0	0	0.0005	9.892e-06	0.0003	0.0027	0.0002	0.0002	7.709e-05	0.0002	0.0044	0.0001	9.234e-05	0.0029	0.0025	2.406e-05	0	6.534e-05	0	0	0	0	1.47e-05	0	0.0044	.	.	.	0.189	0.28860	T	0.03	0.20002	B	0.015	0.17295	B	0.078755	0.21025	N	0.551716	0.992996	0.23790	N	0.895	0.22405	L	.	.	.	.	.	.	0.229	0.25745	-1.0840	0.06591	T	0.047	0.20037	T	10	0.0063723624	0.00144	T	0.004249	0.10278	T	.	.	.	.	0.043077524339	0.03247	0.1618884665741051	0.16109	.	.	0.423670649529	0.28342	T	0.098376	0.40213	T	-0.542774	0.00322	T	-0.557671	0.16595	T	0.0198916656737895	0.00690	T	0.819918	0.47811	T	0.015818689	0.00159	0.026552517	0.00751	0.015818689	0.00159	0.026552517	0.00751	-2.58	0.06352	T	0.2136695256181633	0.28695	0.069	0.03128	B	.;.	.;.	1.759436	0.22383	15.60	0.93623820283465697	0.23493	0.79581	0.39462	D	AEFBI	0.066238	0.12960	N	-0.542716436094394	0.20713	1.093917	-0.40216717585535	0.24933	1.368219	0.784747783436277	0.23909	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.06	2.17	0.26736	1.149000	0.31238	1.540000	0.27221	-0.119000	0.14319	0.867000	0.30739	0.910000	0.28117	0.888000	0.42677	0.2571:0.0:0.5168:0.2262	4.798	0.12649	165	0.93588	Vacuolar protein sorting-associated protein 13, SHR-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	1505.98	34	chr1	12363180	.	G	A	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.160;DP=832;ExcessHet=0.0000;FS=0.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=-1.220e+00;SOR=0.766	GT:AD:DP:GQ:PL	0/1:76,64:140:99:1520,0,1880	20	0	1	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|1:447,310:757:99:0|1:16564103_T_A:9064,0,14911:16564103	4	0	17	0
chr1	16564112	16564112	G	A	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	382	776	360	4	0	368	0.191667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0308	.	0.2106	0.0561	0.2861	0.0502	0.2065	0.2398	0.2097	0.2357	0.0002305	6	26028	rs200783506	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0008	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.031	0.54934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.28264	.	.	.	.	.	.	.	0.0030666888	0.00051	T	.	.	.	.	.	.	.	.	.	0.05765086588271105	0.05706	.	.	0.524779081345	0.42300	T	.	.	.	-0.62494	0.00103	T	-0.595706	0.13176	T	.	.	.	0.79772	0.47570	T	.	.	.	.	.	.	.	.	-5.516	0.42017	T	.	.	0.264	0.49845	B	.;.	.;.	0.535560	0.09040	5.825	0.31427375372166372	0.01770	0.01195	0.04267	N	AEFDBHCI	0.026313	0.01952	N	.	.	.	.	.	.	5.56753264327555E-4	0.07304	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	0.566	0.16501	-1.612000	0.02163	-12.383000	0.00529	-0.617000	0.04568	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	19191.79	994	chr1	16564112	.	G	A	19191.79	.	AC=13;AF=0.325;AN=40;BaseQRankSum=1.44;DP=16699;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=13;MLEAF=0.325;MQ=55.13;MQRankSum=4.65;QD=1.72;ReadPosRankSum=0.230;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:643,92:735:99:0|1:16564103_T_A:668,0,23796:16564103	7	0	13	1
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	0/1:349,236:585:99:6039,0,12793	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	0/1:319,262:581:99:7033,0,11484	1	0	20	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.1429	7171.99	1271	chr1	16567226	.	A	C	7171.99	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.095;DP=12314;ExcessHet=1.7912;FS=0.000;InbreedingCoeff=-0.1651;MLEAC=6;MLEAF=0.143;MQ=57.63;MQRankSum=-1.564e+00;QD=0.89;ReadPosRankSum=0.304;SOR=0.650	GT:AD:DP:GQ:PL	0/1:1198,164:1362:99:1126,0,34605	15	0	6	0
chr1	16569091	16569091	T	C	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	375	889	257	1	0	259	0.127148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0326	.	0.0814	0.0173	0.0368	0.1017	0.0981	0.0848	0.0959	0.1219	0.0584727	9040	154602	rs78194517	0.0008	0.0021	0.0007	0.0008	0.0027	0.0007	0.0007	0.0022	0.0020	0.0002	0.0004	0.0007	0.0027	0.0010	0.0006	0.0007	0.0008	0.0018	0.0002	0.0012	0.0002	0.0002	0.0006	0.0001	0.0001	0.0001	8.673e-05	0.0001	0.0016	0	0	0.0006	0.0003	0	0.0002	0.0008	0.0004	.	.	.	0.292	0.31225	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.04668	.	.	.	.	.	.	.	0.0032458305	0.00055	T	.	.	.	.	.	.	.	.	.	0.019830771613370057	0.01936	.	.	0.407212525606	0.26071	T	.	.	.	-0.874566	0.00001	T	-1.00257	0.00134	T	.	.	.	0.680232	0.28883	T	.	.	.	.	.	.	.	.	-1.717	0.02274	T	.	.	0.125	0.26263	B	.;.	.;.	-0.319513	0.02533	0.303	0.58567040118532776	0.06022	0.00752	0.03125	N	AEFBCI	0.024799	0.01593	N	.	.	.	.	.	.	6.95502039275146E-5	0.04366	0.256867	0.04430	0	0.067947	0.01809	2	0.155693	0.03940	1	0.375513	0.06772	0	.	.	0.575	0.575	0.16558	-0.193000	0.09572	-0.014000	0.13018	-0.478000	0.05075	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	467	0.78285	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	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	0.1	1480.07	652	chr1	16569091	.	T	C	1480.07	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.204e+00;DP=5353;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1301;MLEAC=4;MLEAF=0.100;MQ=43.09;MQRankSum=-2.580e+00;QD=0.65;ReadPosRankSum=-4.830e-01;SOR=0.685	GT:AD:DP:GQ:PL	0/1:466,82:548:99:673,0,12165	16	0	4	1
chr1	16576398	16576398	C	T	exonic	NBPF1	.	unknown	UNKNOWN,	.	.	374	1144	4	0	0	4	0.0017452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00460146896353	.	.	0.0001	0.0001	0	0	0	0.0002	0	0	0.0001294	20	154602	rs754233306	0.0006	0.0029	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0003	0	3.853e-05	0	3.758e-05	0.0002	0.0008	0.0004	0.0002	0.0003	0.0031	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0004	0.0001	0	0.0002	0	0	0	0	0.0005	0	0.0004	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.042095393	0.02926	T	0.004601	0.11377	T	.	.	.	.	0.0401082797425	0.02173	0.013162272113823219	0.01274	.	.	0.603292107582	0.53368	T	.	.	.	-0.591865	0.00163	T	-1.08795	0.00035	T	.	.	.	0.518348	0.16810	T	.	.	.	.	.	.	.	.	-6.813	0.52656	T	.	.	0.096	0.15430	B	.;.	.;.	-0.671314	0.01388	0.080	0.6718075843736302	0.08278	0.00051	0.00397	N	AEFDBI	0.014487	0.00233	N	.	.	.	.	.	.	2.1729480399847E-4	0.05997	0.257697	0.04554	1	0.067947	0.01809	2	0.344576	0.05992	1	0.195515	0.04268	0	.	.	0.939	-1.88	0.07294	-0.792000	0.04700	-20.000000	0.00162	0.156000	0.17708	0.000000	0.06391	0.000000	0.08366	0.040000	0.14268	0.343:0.4024:0.0:0.2546	2.040	0.03332	443	0.79878	.;.	.	.	.	.	.	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	43.1	477	chr1	16576398	.	C	T	43.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.88;DP=7780;ExcessHet=0.1072;FS=2.016;InbreedingCoeff=-0.0499;MLEAC=2;MLEAF=0.048;MQ=35.42;MQRankSum=-4.070e-01;QD=0.06;ReadPosRankSum=1.47;SOR=1.053	GT:AD:DP:GQ:PL	0/1:333,34:367:27:27,0,10766	19	0	2	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|1:56,9:65:99:0|1:16579293_A_G:209,0,2315:16579293	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|1:56,9:65:99:0|1:16579293_A_G:209,0,2315:16579293	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	0/1:53,6:59:84:.:.:84,0,1688	3	0	18	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	0/1:283,59:342:99:876,0,7760	12	0	9	0
chr1	16758987	16758987	C	T	exonic	MST1L	.	stopgain	MST1L:NM_001271733:exon10:c.G1209A:p.W403X,	.	.	331	1188	3	0	0	3	0.00126103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.757	15.18	.	-0.000	0.121	5.818	.	.	.	.	0.0030	0.0001	8.648e-05	0.0001	0	3.077e-05	0.0022	0.0213	3.84e-05	1	26028	rs751831366	0.0002	0.0005	0.0001	0.0002	0.0024	0.0001	0.0001	0.0022	0.0021	2.998e-05	2.26e-05	0	0	0	0.0002	1.802e-06	0.0004	0.0024	4.609e-05	0.0002	1.289e-05	8.08e-05	0.0015	2.113e-05	1.529e-05	0.0007	0.0005	0	0	0	0	0	0	0	0	0	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	632.02	541	chr1	16758987	.	C	T	632.02	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.507e+00;DP=10386;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0272;MLEAC=1;MLEAF=0.024;MQ=45.44;MQRankSum=1.45;QD=1.59;ReadPosRankSum=-3.800e-02;SOR=0.714	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:335,62:397:99:0|1:16758917_C_T:646,0,11327:16758917	20	0	1	0
chr1	16759590	16759590	-	C	exonic	MST1L	.	frameshift insertion	MST1L:NM_001271733:exon7:c.811dupG:p.A271Gfs*26,	.	.	687	520	144	171	0	486	0.31848	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0027	0.0007	0.0003	0	0.0010	0	0.0007	0.0097587	254	26028	rs200532237	0.0004	0.0070	0.0004	0.0004	0.0030	0.0003	0.0003	0.0023	0.0021	0.0030	0.0007	0.0005	0.0006	9.298e-05	0.0004	0.0002	0.0007	0.0008	0.0020	0.0100	0.0019	0.0021	0.0059	0.0016	0.0015	0.0045	0.0039	0.0059	0.0022	0.0010	0.0037	0.0009	0.0016	0	0.0008	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	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	1/1:0,21:21:63:722,63,0	2	7	12	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	0/1:236,25:261:60:60,0,6304	13	0	8	0
chr1	16760964	16760964	A	G	exonic	MST1L	.	nonsynonymous SNV	MST1L:NM_001271733:exon2:c.T206C:p.M69T,	.	.	338	890	294	0	0	294	0.141755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.191	B	0.089	B	0.081	N	.	.	.	.	.	.	-0.989	T	0.089	T	0.142	-0.797	0.685	.	0.000	1.701	.	0.053	.	.	.	0.1542	0.1357	0.2256	0.0314	0.1520	0.1481	0.1473	0.2082	0.121253	18746	154602	rs11576695	6.842e-07	2.599e-05	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	6.568e-06	5.909e-05	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-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	0.125	5178.17	639	chr1	16760964	.	A	G	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.286e+00;DP=13143;ExcessHet=1.1607;FS=0.760;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=56.59;MQRankSum=2.89;QD=1.46;ReadPosRankSum=0.558;SOR=0.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:523,104:627:99:0|1:16760964_A_G:1483,0,18449:16760964	15	0	5	1
chr1	17086577	17086577	C	T	exonic	PADI2	.	nonsynonymous SNV	PADI2:NM_007365:exon7:c.G778A:p.E260K,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.702	P	0.092	B	0.000	D	1.000	D	0.895	L	2.34	T	-1.037	T	0.028	T	0.335	2.946	15.82	5.08	2.359	5.290	17.044	0.129	0.00995550761828	.	0.000798722	0.0003	0	0	0	0	1.521e-05	0.0011	0.0024	0.0002975	46	154602	rs368879812	0.0002	0.0002	9.257e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	0	0	0	1.875e-05	0	2.608e-05	0.0003	0.0022	7.879e-05	7.873e-05	6.424e-05	9.399e-05	0.0023	4.493e-05	3.51e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0.0005	0.0023	0.217	0.19157	T	0.664	0.06427	T	0.702	0.41889	P	0.092	0.30031	B	0.000416	0.44736	D	0.228698	0.999699	0.81001	D	0.75	0.19020	N	2.34	0.16351	T	-0.19	0.11728	N	0.313	0.36884	-1.0372	0.18171	T	0.028	0.11882	T	10	0.015407592	0.00323	T	0.009956	0.25923	T	0.129	0.35316	0.535	0.64439	0.44307954383	0.43928	0.5418401897340078	0.54109	0.246337925955	0.27172	0.575461626053	0.49447	T	0.024309	0.18392	T	-0.489313	0.00655	T	-0.481189	0.24320	T	0.112623423899642	0.13693	T	0.720728	0.73035	T	0.3041114	0.53271	0.22109878	0.46909	0.3041114	0.53271	0.22109878	0.46908	-5.065	0.37537	T	.	.	0.079	0.13923	B	.;.	.;.	3.371448	0.46592	22.3	0.99834858821037875	0.91628	0.89571	0.50120	D	AEFGBI	0.433964	0.49521	N	0.106207246092757	0.46751	2.910804	0.236574809704722	0.51888	3.367685	0.993718641393967	0.33326	0.615465	0.37627	0	0.610034	0.51514	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	5.351000	0.65790	7.672000	0.64834	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	17.044	0.86371	830	0.39242	Protein-arginine deiminase (PAD), central 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	1554.98	42	chr1	17086577	.	C	T	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.949;DP=815;ExcessHet=0.0000;FS=1.482;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.194e+00;SOR=0.856	GT:AD:DP:GQ:PL	0/1:54,61:115:99:1569,0,1279	20	0	1	0
chr1	21983722	21983722	C	T	exonic	CELA3B	.	nonsynonymous SNV	CELA3B:NM_007352:exon5:c.C391T:p.R131C,	.	.	425	1085	12	0	0	12	0.00549954	.	.	718664	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.03	D	1.0	D	0.823	P	0.100	N	1.000	N	1.965	M	-2.51	D	-0.244	T	0.468	T	0.712	1.792	11.95	2.43	0.355	-0.466	10.963	0.532	.	0.0011	0.0173722	0.0096	0.0010	0.0008	0.0251	0.0002	0.0004	0.0133	0.0540	0.0082923	1282	154602	rs149805485	0.0042	0.0042	0.0027	0.0058	0.0533	0.0041	0.0041	0.0520	0.0514	0.0008	0.0003	0	0.0204	7.489e-05	0.0038	0.0003	0.0055	0.0533	0.0031	0.0031	0.0022	0.0041	0.0567	0.0029	0.0028	0.0512	0.0490	0.0011	0	0.0004	0	0.0247	0	0.0034	0.0002	0.0024	0.0567	0.019	0.50132	D	0.028	0.54934	D	1.0	0.90584	D	0.823	0.59197	P	0.100394	0.19889	N	0.488930	0.999999	0.08975	N	2.59	0.75718	M	-2.51	0.89293	D	-5.75	0.87760	D	0.464	0.50056	-0.2436	0.76532	T	0.468	0.79476	T	10	0.003702402	0.00068	T	.	.	.	0.532	0.80307	.	.	0.399889258716	0.39604	0.6047300115706986	0.60404	0.738108888405	0.63096	0.457349479198	0.32947	T	0.41845	0.77079	T	-0.211407	0.19182	T	-0.0369708	0.67906	D	0.0491754289312339	0.05354	T	0.918108	0.70532	D	0.19427396	0.41170	0.27008674	0.52896	0.19427396	0.41170	0.27008674	0.52895	-10.02	0.74032	D	.	.	0.415	0.60399	A	.;.	.;.	3.340982	0.46033	22.2	0.99582197117975779	0.73099	0.06319	0.12316	N	AEFBI	0.240755	0.36248	N	-0.389966078087591	0.25826	1.40482	-0.597886246141452	0.19547	1.04929	1.53145191743026E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.42	2.43	0.28797	-0.359000	0.07683	0.703000	0.20862	-1.365000	0.01177	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.3509:0.6491:0.0:0.0	10.963	0.46608	772	0.48957	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	6259.11	108	chr1	21983722	.	C	T	6259.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=3028;ExcessHet=0.1072;FS=1.754;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=49.99;MQRankSum=-3.390e-01;QD=14.10;ReadPosRankSum=-2.600e-02;SOR=0.562	GT:AD:DP:GQ:PL	0/1:105,137:242:99:3619,0,2454	19	0	2	0
chr1	24337749	24337749	C	G	exonic	GRHL3	.	nonsynonymous SNV	GRHL3:NM_001195010:exon6:c.C662G:p.A221G	Van der Woude syndrome 2, Autosomal dominant	.	426	1086	9	1	0	11	0.00503894	.	.	685680	Isolated_cleft_palate|Van_der_Woude_syndrome_2	MONDO:MONDO:0007336,MedGen:C1837218,OMIM:119540,Orphanet:2014|MONDO:MONDO:0011712,MedGen:C1847604,OMIM:606713,Orphanet:888	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.003	B	0.000	D	1.000	N	-0.685	N	2.19	T	-0.971	T	0.004	T	0.124	0.043	4.237	5.04	2.828	1.355	8.768	0.051	.	0.0075	0.0117812	0.0045	0.0263	0.0015	0.0030	0	0.0002	0.0022	0.0128	0.0041073	635	154602	rs34593559	0.0017	0.0017	0.0013	0.0020	0.0251	0.0016	0.0016	0.0237	0.0231	0.0251	0.0019	0	0.0023	0	0.0023	4.317e-05	0.0028	0.0137	0.0073	0.0073	0.0071	0.0076	0.0229	0.0069	0.0068	0.0217	0.0212	0.0229	0	0.0038	0	0.0023	0	0.0068	8.818e-05	0.0057	0.0145	1.0	0.00964	T	1.0	0.02624	T	0.0	0.02946	B	0.002	0.06944	B	0.000091	0.51296	D	0.172251	0.999529	0.21047	N	-1.345	0.00668	N	2.19	0.18724	T	1.33	0.00961	N	0.114	0.11197	-0.9714	0.36904	T	0.004	0.01435	T	10	0.0021779835	0.00031	T	.	.	.	0.051	0.14325	.	.	0.043077524339	0.03247	0.2881507299212878	0.28728	0.366772258231	0.38245	0.420930802822	0.27964	T	0.085427	0.37500	T	-0.629688	0.00096	T	-0.658355	0.08378	T	0.00889315798034069	0.00110	T	0.770023	0.39993	T	0.0995635	0.23498	0.1000692	0.23914	0.109806836	0.25960	0.07888061	0.17706	-3.493	0.16883	T	0.06528377698044167	0.02142	0.066	0.03443	B	.;.;.;.	.;.;.;.	1.930511	0.24519	16.43	0.42646602101117831	0.03158	0.32589	0.24622	N	AEFBHI	0.118829	0.23220	N	-0.472235634748299	0.22993	1.231661	-0.208493035918403	0.31229	1.765467	0.999616398754146	0.40981	0.653281	0.48532	0	0.627178	0.54094	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	5.97	5.04	0.67293	0.983000	0.29150	0.781000	0.21481	0.599000	0.40250	0.573000	0.27530	0.235000	0.23811	0.998000	0.85391	0.1284:0.6299:0.2416:0.0	8.768	0.33872	814	0.42100	.;CP2 transcription factor;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1512.98	39	chr1	24337749	.	C	G	1512.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.500e+00;DP=868;ExcessHet=0.0000;FS=0.620;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=-5.200e-01;SOR=0.796	GT:AD:DP:GQ:PL	0/1:79,67:146:99:1527,0,2121	20	0	1	0
chr1	25862859	25862859	G	C	exonic	PAQR7	.	nonsynonymous SNV	PAQR7:NM_178422:exon3:c.C981G:p.I327M,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.168	B	0.064	B	0.346	N	1.000	N	0.55	N	1.85	T	-1.040	T	0.041	T	0.118	-0.065	3.685	3.9	1.241	0.145	11.066	0.019	0.00567206754193	.	0.000199681	0.0003	0	0	0	0	0.0002	0	0.0013	0.0002458	38	154602	rs536098137	0.0001	0.0001	7.487e-05	0.0001	0.0083	8.713e-05	8.2e-05	0.0064	0.0058	2.987e-05	0	0	0	0	0.0083	2.698e-06	0.0004	0.0008	2.627e-05	2.625e-05	0	5.372e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.106	0.29688	T	0.271	0.22291	T	0.168	0.28654	B	0.064	0.27215	B	0.346029	0.13889	N	0.655337	0.999996	0.08975	N	.	.	.	1.85	0.24472	T	-0.85	0.23156	N	0.056	0.02759	-1.0404	0.17192	T	0.041	0.17573	T	10	0.020640641	0.00479	T	0.005672	0.14681	T	0.019	0.03383	0.366	0.37361	0.156986980423	0.15292	0.4532219717515872	0.45240	0.236423596909	0.26183	0.297255992889	0.09993	T	0.015873	0.13230	T	-0.555594	0.00270	T	-0.611382	0.11873	T	0.026728765206242	0.01507	T	0.216778	0.02717	T	0.0837928	0.19365	0.0751527	0.16515	0.0837928	0.19365	0.0751527	0.16515	-5.6	0.42792	T	.	.	0.083	0.09336	B	.	.	0.597798	0.09663	6.434	0.78728599614246464	0.12427	0.76686	0.37630	D	AEFBI	0.175005	0.30216	N	-0.514532200105607	0.21609	1.148075	-0.430584609654739	0.24104	1.318128	0.999943147608087	0.47345	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.81	3.9	0.44240	0.121000	0.15496	1.762000	0.28561	0.676000	0.76740	0.245000	0.24799	1.000000	0.68203	0.181000	0.21328	0.0873:0.0:0.9127:0.0	11.066	0.47195	724	0.55085	.	.	.	.	.	.	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	920.98	34	chr1	25862859	.	G	C	920.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.26;DP=788;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.81;ReadPosRankSum=-9.150e-01;SOR=0.703	GT:AD:DP:GQ:PL	0/1:43,35:78:99:935,0,1086	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|1:0,34,0:34:99:1|1:26282270_C_T:1490,102,0,1490,102,1490:26282270	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|2:20,0,14:34:99:0|1:26282270_C_T:524,585,1400,0,815,773:26282270	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|2:24,0,14:38:99:0|1:26282270_C_T:512,585,1568,0,983,941:26282270	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	1|2:0,22,14:36:99:0|1:26282270_C_T:1509,586,560,921,0,879:26282270	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|1:18,22,0:40:99:0|1:26282270_C_T:870,0,686,924,753,1676:26282270	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|2:27,0,21:48:99:0|1:26282270_C_T:801,882,1940,0,1058,995:26282270	1	1	5	4
chr1	27366450	27366450	C	A	exonic	MAP3K6	.	nonsynonymous SNV	MAP3K6:NM_001297609:exon1:c.G148T:p.V50L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.976	D	0.831	P	.	.	0.961	D	2.11	M	-0.48	T	0.024	D	0.451	T	0.313	4.217	21.9	4.69	2.418	2.616	15.530	0.228	.	.	0.00199681	0	.	.	.	.	.	.	.	0.00073	19	26028	rs374577854	0.0004	0.0004	0.0003	0.0004	0.0165	0.0003	0.0003	0.0150	0.0144	0	0	0	4.145e-05	0	0.0007	4.428e-06	0.0010	0.0165	0.0005	0.0005	0.0003	0.0007	0.0137	0.0004	0.0003	0.0110	0.0101	2.415e-05	0	0	0	0.0002	0	0	1.482e-05	0	0.0137	0.01	0.57480	D	0.055	0.46862	T	0.976	0.58310	D	0.831	0.59664	P	.	.	.	.	0.961106	0.38217	D	2.42	0.70002	M	-0.49	0.70365	T	-1.71	0.40660	N	0.123	0.12770	0.024	0.82731	D	0.451	0.78515	T	9	0.008459061	0.00192	T	.	.	.	0.228	0.52768	0.304	0.27325	0.845298154962	0.84382	0.5474738373067404	0.54673	0.430990020788	0.43319	0.96384203434	0.99944	D	0.095731	0.39681	T	-0.037313	0.46346	T	-0.291374	0.45630	T	0.920812785625458	0.58016	D	0.744226	0.36418	T	0.31781814	0.54454	0.3285908	0.58746	0.31781814	0.54454	0.3285908	0.58746	-3.999	0.25172	T	.	.	0.466	0.63004	A	.;.;.	.;.;.	3.572909	0.50333	22.9	0.9909890674360281	0.52421	0.69917	0.34379	D	AEFDBHCI	0.417000	0.48522	N	0.531786185945948	0.68982	5.292544	0.507447772168251	0.68489	5.227297	0.999999999999965	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.239995	0.05000	1	0.56214	0.19341	0	.	.	4.69	4.69	0.58546	2.303000	0.43307	5.642000	0.49152	0.495000	0.22486	0.993000	0.37899	1.000000	0.68203	0.914000	0.44937	0.0:1.0:0.0:0.0	15.530	0.75692	596	0.68392	.;.;.	.	.	.	.	.	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	154.98	20	chr1	27366450	.	C	A	154.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.437;DP=417;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.38;ReadPosRankSum=-1.594e+00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:13,8:21:99:169,0,289	20	0	1	0
chr1	33014548	33014548	G	A	exonic	AK2	.	nonsynonymous SNV	AK2:NM_001319142:exon4:c.C346T:p.P116S	Reticular dysgenesis, Autosomal recessive	.	0	1521	1	0	0	1	0.000328623	.	.	1432280	Inborn_genetic_diseases|Reticular_dysgenesis	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009973,MedGen:C0272167,OMIM:267500,Orphanet:33355	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	4.62	H	-1.83	D	1.029	D	0.879	D	0.806	4.514	24.3	5.12	2.760	7.971	19.450	0.461	0.215164007555	.	.	4.943e-05	0	0	0.0001	0	0	0	0.0003	4.53e-05	7	154602	rs552815574	4.177e-05	4.173e-05	2.861e-05	5.505e-05	0.0005	3.313e-05	3.004e-05	0.0003	0.0003	2.991e-05	2.239e-05	0	2.523e-05	0	0	1.53e-05	3.318e-05	0.0005	1.972e-05	1.97e-05	0	4.037e-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	0.008	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.985	0.99855	H	-1.83	0.84122	D	-7.76	0.95815	D	0.834	0.83781	1.029	0.97706	D	0.879	0.95999	D	10	0.859638	0.85177	D	0.215164	0.87494	D	0.788	0.92988	0.53	0.63707	0.972898452105	0.97260	0.7258217196920808	0.72526	0.7545477971	0.63944	0.502626597881	0.39194	T	0.591511	0.91718	D	-0.212194	0.19070	T	-0.242255	0.50579	T	0.834250903938309	0.48864	D	0.920308	0.71149	D	0.8997428	0.91360	0.8904933	0.94302	0.8997428	0.91361	0.8904933	0.94302	-9.264	0.69381	D	.	.	0.708	0.74367	P	.;.;.;.	.;.;.;.	5.038783	0.83855	28.2	0.99656509351751932	0.77631	0.98131	0.79864	D	AEFDGBHCI	0.896355	0.83732	D	1.11711402137943	0.98438	18.28032	0.994191616084369	0.98512	18.49108	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	8.099000	0.89378	11.799000	0.96598	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.450	0.94856	542	0.72843	.;Adenylate kinase, active site lid domain;Adenylate kinase, active site lid domain;Adenylate kinase, active site lid 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	1505.98	35	chr1	33014548	.	G	A	1505.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.710;DP=789;ExcessHet=0.0000;FS=4.798;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-1.390e-01;SOR=0.913	GT:AD:DP:GQ:PL	0/1:47,58:105:99:1520,0,1187	20	0	1	0
chr1	33602439	33602439	T	C	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon43:c.A6640G:p.I2214V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.001	B	0.004	B	0.330	N	0.524	N	-0.38	N	2.28	T	-0.981	T	0.014	T	0.104	-0.146	3.285	-0.735	-0.007	1.011	1.641	0.011	0.00318409511483	.	.	8.257e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs774426338	1.368e-06	1.368e-06	0	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.773	0.18308	T	0.48	0.14912	T	0.0	0.07471	B	0.002	0.06944	B	0.329691	0.14134	N	0.679220	0.999996	0.08975	N	-0.5	0.02616	N	2.28	0.17271	T	0.53	0.03041	N	0.203	0.24385	-0.9807	0.34840	T	0.014	0.05369	T	10	0.065809876	0.08935	T	0.003184	0.06966	T	0.011	0.01250	0.414	0.45216	0.107399877778	0.10242	0.09497976112378032	0.09429	.	.	0.236385568976	0.02474	T	0.02031	0.16015	T	-0.330793	0.06051	T	-0.697451	0.05966	T	0.0344085821633419	0.02708	T	0.166283	0.13535	T	0.034389142	0.03849	0.026020281	0.00671	0.034389142	0.03849	0.026020281	0.00671	-2.535	0.08634	T	.	.	0.058	0.01252	B	.;.;.;.;.	.;.;.;.;.	0.547989	0.09168	5.949	0.64562782086149995	0.07528	0.23386	0.22059	N	AEFBI	0.126223	0.24307	N	-0.962840348573965	0.09407	0.4450408	-0.821745047197403	0.13969	0.7274939	0.00286292696049736	0.09760	0.675385	0.55134	0	0.59043	0.45803	0	0.693117	0.63056	0	0.564101	0.26826	0	.	.	5.29	-0.735	0.10575	0.509000	0.22414	1.208000	0.24886	-0.123000	0.13640	0.003000	0.16062	0.999000	0.35428	0.954000	0.50415	0.1137:0.2742:0.2243:0.3877	1.641	0.02586	470	0.78111	.;CUB domain|CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain|CUB domain;.;CUB domain|CUB domain|CUB domain|CUB domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3158.98	34	chr1	33602439	.	T	C	3158.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.863e+00;DP=964;ExcessHet=0.0000;FS=0.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-9.700e-01;SOR=0.650	GT:AD:DP:GQ:PL	0/1:122,132:254:99:3173,0,3300	20	0	1	0
chr1	34794607	34794607	C	T	exonic	GJA4	.	nonsynonymous SNV	GJA4:NM_002060:exon2:c.C394T:p.R132C,	.	.	171	1306	40	5	0	50	0.0187829	.	.	707363	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.02	D	0.946	P	0.333	B	0.485	N	1.000	D	0.895	L	-4.47	D	0.695	D	0.764	D	0.301	2.204	13.33	4.13	2.360	1.160	11.059	0.405	.	0.0068	0.00419329	0.0095	0.0017	0.0062	0	0.0081	0.0116	0.0146	0.0134	0.0089003	1376	154602	rs61777220	0.0098	0.0098	0.0096	0.0100	0.0200	0.0097	0.0096	0.0170	0.0159	0.0013	0.0053	0.0206	2.519e-05	0.0098	0.0200	0.0099	0.0103	0.0140	0.0079	0.0079	0.0080	0.0077	0.0143	0.0075	0.0073	0.0116	0.0106	0.0018	0	0.0076	0.0248	0	0.0082	0.0238	0.0108	0.0114	0.0143	0.046	0.40832	D	0.035	0.56640	D	0.946	0.53363	P	0.333	0.42166	B	0.484983	0.12122	N	0.687923	0.769098	0.34129	D	1.39	0.34934	L	-4.47	0.97713	D	-2.02	0.46503	N	0.226	0.25377	0.695	0.93112	D	0.764	0.91963	D	10	0.007856071	0.00178	T	.	.	.	0.405	0.71791	.	.	0.970688122384	0.97037	0.5812088919128856	0.58049	0.819732499615	0.67100	0.345710337162	0.17288	T	0.728999	0.92399	D	-0.201871	0.20535	T	-0.0510736	0.66950	D	0.0201127774959818	0.00712	T	0.857914	0.57225	D	0.15551671	0.35143	0.09299633	0.21943	0.15551671	0.35143	0.09299633	0.21943	-8.933	0.67264	D	.	.	0.124	0.26607	B	.;.	.;.	3.433884	0.47740	22.5	0.99798233082737386	0.88283	0.71097	0.34867	D	AEFDBCI	0.438362	0.49778	N	0.0598603509916537	0.44597	2.730857	0.0723636387507308	0.43165	2.62392	0.907594485952564	0.26263	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.620976	0.48614	0	.	.	5.11	4.13	0.47661	3.749000	0.54867	2.695000	0.34117	0.599000	0.40250	1.000000	0.71638	0.992000	0.31684	0.659000	0.32940	0.377:0.623:0.0:0.0	11.059	0.47153	918	0.19598	Connexin, N-terminal;Connexin, N-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	3013.11	105	chr1	34794607	.	C	T	3013.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=1474;ExcessHet=0.1072;FS=1.474;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.29;ReadPosRankSum=0.734;SOR=0.604	GT:AD:DP:GQ:PL	0/1:73,67:140:99:1811,0,1935	19	0	2	0
chr1	35743140	35743140	C	T	splicing	CLSPN	NM_001330490:exon18:c.3143+1G>A;NM_001190481:exon17:c.2951+1G>A;NM_022111:exon18:c.3143+1G>A	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.938	20.1	5.44	2.715	4.013	16.356	.	.	0.0014	0.00119808	0.0003	0.0039	8.7e-05	0	0	1.518e-05	0	0	0.0003105	48	154602	rs72902906	0.0001	0.0001	0.0002	8.952e-05	0.0045	0.0001	0.0001	0.0039	0.0037	0.0045	0.0002	0	0	0	0	9.011e-07	0.0004	0	0.0011	0.0011	0.0012	0.0010	0.0039	0.0009	0.0009	0.0034	0.0032	0.0039	0	6.539e-05	0	0	0	0	1.47e-05	0.0009	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113373	0.65700	D	0.389932	0.91778	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	6.526552	0.95352	34	0.99353860084475298	0.60697	0.97659	0.76220	D	AEFBI	.	.	.	1.07819764397931	0.97709	16.614	0.92309455668669	0.96501	14.77557	0.996100935815946	0.34527	0.156188	0.03335	0	0.156173	0.03658	0	0.137589	0.03823	0	0.087121	0.02386	0	0.979263	0.83811	5.44	5.44	0.79348	4.167000	0.57999	7.590000	0.61220	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.873000	0.41610	0.0:1.0:0.0:0.0	16.356	0.83070	208	0.91895	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1229.98	33	chr1	35743140	.	C	T	1229.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.370e-01;DP=804;ExcessHet=0.0000;FS=2.637;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=1.20;SOR=0.435	GT:AD:DP:GQ:PL	0/1:51,49:100:99:1244,0,1304	20	0	1	0
chr1	39372528	39372528	A	G	exonic	MACF1	.	nonsynonymous SNV	MACF1:NM_012090:exon46:c.A6959G:p.N2320S,	.	.	435	1070	17	0	0	17	0.00788132	.	.	1666742	Lissencephaly_9_with_complex_brainstem_malformation|not_provided	MONDO:MONDO:0032677,MedGen:C5193029,OMIM:618325,Orphanet:572013|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.756	P	0.587	P	0.000	D	1.000	D	0.995	L	1.25	T	-1.014	T	0.087	T	0.066	2.678	14.91	5.87	2.258	1.768	5.090	0.078	0.0140217105871	0.0010	0.00159744	0.0025	9.707e-05	0.0017	0	0.0008	0.0018	0.0033	0.0095	0.0022768	352	154602	rs148069432	0.0018	0.0018	0.0014	0.0022	0.0112	0.0017	0.0017	0.0106	0.0103	0.0001	0.0008	0.0001	2.52e-05	0.0010	0.0073	0.0012	0.0023	0.0112	0.0012	0.0012	0.0011	0.0012	0.0106	0.0010	0.0010	0.0083	0.0074	0.0003	0	0.0006	0	0	0.0004	0.0034	0.0014	0.0024	0.0106	0.047	0.40319	D	0.198	0.27767	T	0.756	0.43409	P	0.587	0.50368	P	0.000475	0.44119	D	0.097855	0.991281	0.47641	D	.	.	.	1.25	0.36512	T	-3.48	0.68298	D	0.272	0.30800	-1.0143	0.25561	T	0.087	0.33857	T	10	0.0056358874	0.00125	T	0.014022	0.33851	T	0.078	0.22779	.	.	0.350697349064	0.34675	0.2509075869118216	0.25004	.	.	0.372067987919	0.21128	T	0.158204	0.83479	T	-0.585328	0.00179	T	-0.604164	0.12463	T	0.0798498266153988	0.09968	T	0.89891	0.65471	D	0.048631538	0.08506	0.08550179	0.19747	0.047225796	0.08038	0.08960598	0.20963	-8.263	0.67394	D	.	.	0.088	0.11701	B	.;.;.;.;.	.;.;.;.;.	1.564903	0.20044	14.56	0.99354921868190538	0.60738	0.80897	0.40420	D	AEFDBI	0.154011	0.27896	N	0.0397473736906661	0.43673	2.655599	0.197441580791304	0.49707	3.170703	0.997098033228771	0.35269	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	5.87	0.94266	2.012000	0.40551	2.292000	0.31965	0.756000	0.94297	0.915000	0.31815	0.886000	0.27767	0.995000	0.73285	0.7098:0.1813:0.1088:0.0	5.090	0.14037	593	0.68665	.;.;.;.;.	.	.	.	.	.	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	884.98	38	chr1	39372528	.	A	G	884.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.737;DP=776;ExcessHet=0.0000;FS=5.678;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-5.540e-01;SOR=1.023	GT:AD:DP:GQ:PL	0/1:46,37:83:99:899,0,1097	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	1/1:0,20,0:20:60:.:.:635,60,0,635,60,635	0	12	8	0
chr1	40292500	40292500	C	G	exonic	ZMPSTE24	.	nonsynonymous SNV	ZMPSTE24:NM_005857:exon10:c.C1259G:p.A420G,	Mandibuloacral dysplasia with type B lipodystrophy, Autosomal recessive;Restrictive dermopathy, lethal, Autosomal recessive	YES	12	1509	1	0	0	1	0.000331236	.	.	864352	Lethal_tight_skin_contracture_syndrome|Mandibuloacral_dysplasia_with_type_B_lipodystrophy|not_provided	MONDO:MONDO:0031213,MedGen:C0406585,OMIM:PS275210,Orphanet:1662|MONDO:MONDO:0012074,MedGen:C1837756,OMIM:608612,Orphanet:2457,Orphanet:90154|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.3	T	0.126	B	0.199	B	0.000	D	1.000	D	2.235	M	-0.9	T	-0.357	T	0.428	T	0.708	3.387	17.43	5.22	2.442	5.630	18.79	0.396	0.0429152660148	7.7e-05	0.000399361	2.473e-05	0	8.637e-05	0	0	2.997e-05	0	0	3.23e-05	5	154602	rs200751802	3.147e-05	3.147e-05	2.995e-05	3.3e-05	0.0021	2.412e-05	2.158e-05	0.0012	0.0009	0	6.71e-05	0.0008	0	0	0.0021	4.496e-06	8.279e-05	0	3.283e-05	3.281e-05	2.569e-05	4.028e-05	6.538e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	6.538e-05	0.0006	0	0	0	2.94e-05	0	0	0.272	0.15930	T	0.325	0.18846	T	0.126	0.26920	B	0.199	0.36804	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.43	0.70455	M	-0.9	0.74896	T	-1.87	0.43717	N	0.523	0.55280	-0.3566	0.73363	T	0.428	0.77075	T	10	0.2204943	0.38748	T	0.042915	0.60713	D	0.396	0.71084	.	.	0.826746230026	0.82510	0.704813676113477	0.70423	0.209053692149	0.23371	0.702443182468	0.67497	T	0.713146	0.91834	D	0.0862395	0.62764	D	-0.0310341	0.68300	D	0.198717176914215	0.20345	T	0.982152	0.93936	D	0.5671789	0.70905	0.42037824	0.66003	0.5671789	0.70906	0.42037824	0.66003	-7.803	0.59720	D	0.4240832665756405	0.51237	0.135	0.29255	B	.	.	3.283636	0.45002	22.0	0.99353245856092864	0.60697	0.97974	0.78556	D	AEFGBI	0.799451	0.72571	D	0.184218131016374	0.50443	3.23411	0.308766090375813	0.56053	3.768349	0.999999999997253	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.22	5.22	0.72285	4.684000	0.61374	7.640000	0.63152	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.79	0.91935	673	0.60677	Peptidase M48	.	.	.	.	.	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	711.98	39	chr1	40292500	.	C	G	711.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=779;ExcessHet=0.0000;FS=2.057;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.37;ReadPosRankSum=0.441;SOR=0.454	GT:AD:DP:GQ:PL	0/1:46,30:76:99:726,0,1268	20	0	1	0
chr1	41582203	41582203	G	T	exonic	HIVEP3	.	nonsynonymous SNV	HIVEP3:NM_001127714:exon3:c.C2595A:p.D865E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	0.000	D	0.802	D	2.305	M	1.02	T	-0.565	T	0.217	T	0.434	3.258	16.93	2.02	0.685	.	8.223	0.121	0.0182105355214	.	.	2.483e-05	0	0	0	0	4.506e-05	0	0	1.94e-05	3	154602	rs778633347	1.779e-05	1.779e-05	1.77e-05	1.788e-05	0.0002	1.237e-05	1.051e-05	1.94e-06	1.28e-06	0	0	0.0006	0	0	0.0002	5.396e-06	4.968e-05	0	6.573e-06	6.567e-06	0	1.346e-05	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.002	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.996	0.84481	D	0.000035	0.55875	D	0.000000	0.802022	0.34524	D	2.635	0.77114	M	1.02	0.40749	T	-3.11	0.63669	D	0.496	0.52918	-0.5653	0.66200	T	0.217	0.57863	T	10	0.31723675	0.49136	T	0.018211	0.40197	T	0.121	0.33580	0.257	0.19845	0.654655129132	0.65177	0.0919482193680621	0.09127	0.314679781646	0.33750	0.574180960655	0.49267	T	0.482431	0.81058	T	-0.137785	0.30243	T	-0.328038	0.41686	T	0.483133137226105	0.32012	T	0.948505	0.80194	D	0.38451982	0.59641	0.31570858	0.57555	0.38451982	0.59642	0.31570858	0.57555	-2.063	0.03428	T	.	.	0.245	0.55285	B	.;.;.	.;.;.	3.060401	0.41100	21.3	0.99562454827503433	0.71892	0.92938	0.56918	D	AEFDBI	0.361622	0.45117	N	0.352599855577195	0.58876	4.062744	0.251196661709771	0.52717	3.444714	0.976778883968443	0.29756	0.651	0.46895	0	0.708844	0.79440	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	4.95	2.02	0.25641	1.014000	0.29553	2.853000	0.35153	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.3179:0.0:0.6821:0.0	8.223	0.30714	486	0.77016	.;.;.	.	.	.	.	.	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	1281.98	47	chr1	41582203	.	G	T	1281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.395;DP=1366;ExcessHet=0.0000;FS=3.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.32;ReadPosRankSum=-5.510e-01;SOR=0.904	GT:AD:DP:GQ:PL	0/1:30,44:74:99:1296,0,846	20	0	1	0
chr1	43206915	43206915	G	A	exonic	CFAP57	.	nonsynonymous SNV	CFAP57:NM_001167965:exon10:c.G1738A:p.E580K	.	.	1	1519	1	1	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.325	B	0.315	B	0.000	D	1.000	D	2.865	M	3.58	T	-0.764	T	0.206	T	0.899	3.943	20.2	4.95	2.737	8.930	18.732	0.382	0.0656346457854	.	.	0.0001	0	8.654e-05	0	0	0.0002	0.0011	0.0001	0.00011	17	154602	rs756958967	0.0002	0.0002	0.0002	0.0002	0.0018	0.0002	0.0002	0.0010	0.0007	8.963e-05	6.708e-05	0.0023	0	0	0.0018	0.0002	0.0003	6.957e-05	9.857e-05	9.85e-05	5.139e-05	0.0001	0.0002	6.007e-05	4.88e-05	2.847e-05	1.858e-05	0	0	6.543e-05	0.0020	0	0	0	7.35e-05	0.0005	0.0002	0.01	0.59928	D	0.007	0.70582	D	0.036	0.33132	B	0.079	0.41566	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	1.03	0.40469	T	-3.32	0.68178	D	0.766	0.88577	-0.7642	0.57176	T	0.206	0.56403	T	10	0.21003342	0.37385	T	0.065635	0.69637	D	0.382	0.69946	0.571	0.69431	0.237489013734	0.23353	0.650776894286351	0.65013	0.386898477928	0.39976	0.700690150261	0.67242	T	0.197246	0.57760	T	0.055588	0.59058	T	0.0903808	0.76271	D	0.539851188659668	0.34098	D	0.956904	0.87125	D	0.6607886	0.75941	0.5324247	0.72982	0.6607886	0.75942	0.5324247	0.72982	-14.262	0.93876	D	.	.	0.929	0.86555	P	.;.;.	.;.;.	4.522052	0.70910	25.6	0.9980217530106783	0.88728	0.64962	0.32579	D	ALL	0.928609	0.91307	D	0.370015563534385	0.59804	4.162945	0.454539350582464	0.65010	4.769799	1.0	0.98316	0.493124	0.18060	0	0.587265	0.34161	0	0.687007	0.62461	0	0.56214	0.19341	0	.	.	4.95	4.95	0.64894	9.007000	0.93130	11.842000	0.97836	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0:0.0:1.0:0.0	18.732	0.91703	460	0.78750	.;.;.	.	.	.	.	.	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	875.98	39	chr1	43206915	.	G	A	875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.09;DP=786;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.68;ReadPosRankSum=-1.240e+00;SOR=0.742	GT:AD:DP:GQ:PL	0/1:41,34:75:99:890,0,1111	20	0	1	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|2:0,8,6:14:99:1|0:50419101_CCGGCGG_C:612,189,228,340,0,311:50419101	0	2	0	0
chr1	52361541	52361546	TCCTCC	-	exonic	CC2D1B	.	nonframeshift deletion	CC2D1B:NM_001330585:exon4:c.285_290del:p.E96_E97del	.	.	395	1107	16	4	0	24	0.0107239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0777	0.00698882	0.0068	0.0008	0.0058	0	0.0011	0.0074	0.0094	0.0146	0.0047641	124	26028	rs530661837	0.0077	0.0077	0.0075	0.0079	0.0137	0.0076	0.0075	0.0124	0.0121	0.0010	0.0064	0.0041	0	0.0011	0.0137	0.0082	0.0078	0.0130	0.0058	0.0058	0.0064	0.0051	0.0128	0.0055	0.0053	0.0102	0.0093	0.0015	0	0.0071	0.0064	0	0.0010	0	0.0089	0.0057	0.0128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2059.07	40	chr1	52361540	.	TTCCTCC	T	2059.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.268;DP=849;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=2.33;SOR=0.649	GT:AD:DP:GQ:PL	0/1:57,21:78:99:702,0,2309	19	0	2	0
chr1	52606945	52606945	C	T	exonic	GPX7	.	stopgain	GPX7:NM_015696:exon2:c.C400T:p.Q134X,	.	.	418	1102	2	0	0	2	0.000906618	0.0001	0.18	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	.	.	.	.	0.030	N	1.000	D	.	.	.	.	.	.	.	.	.	3.729	18.94	-4.16	-1.634	1.902	16.807	.	.	.	0.00159744	0.0005	0	8.642e-05	0.0001	0	1.504e-05	0.0022	0.0036	0.0004528	70	154602	rs201645639	0.0002	0.0002	0.0001	0.0003	0.0037	0.0002	0.0002	0.0034	0.0033	5.974e-05	0	0	0	0	0.0002	8.995e-06	0.0002	0.0037	0.0002	0.0002	0.0001	0.0002	0.0046	0.0001	9.232e-05	0.0031	0.0026	0	0	0	0	0	0	0	2.94e-05	0	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	0.029702	0.25414	N	0.448650	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.728	0.72925	.	.	.	.	.	.	.	.	.	.	0.002971	0.06339	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0476446	0.58037	T	0.293872	0.87901	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.111615	0.94587	34	0.92011612500299822	0.21348	0.60839	0.31311	D	AEFBI	0.465280	0.51342	N	0.106930697764784	0.46785	2.913692	-0.227879882738787	0.30541	1.720522	6.85012519288122E-4	0.07622	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	5.21	-4.16	0.03606	2.002000	0.40454	-0.064000	0.12386	0.549000	0.26987	0.989000	0.36753	0.000000	0.08366	0.501000	0.29039	0.0:0.5473:0.3699:0.0827	16.807	0.85572	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	0	0	0	0	0.02381	2265.98	61	chr1	52606945	.	C	T	2265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1269;ExcessHet=0.0000;FS=0.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-6.680e-01;SOR=0.756	GT:AD:DP:GQ:PL	0/1:82,85:167:99:2280,0,2024	20	0	1	0
chr1	54813813	54813813	-	A	splicing	LEXM	NM_152607:exon7:c.763-1->A;NM_001110533:exon7:c.763-1->A	.	.	.	.	425	1015	81	1	0	83	0.0392806	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0062	0.00778754	0.0106	0.0026	0.0041	0	0.0076	0.0104	0.0161	0.0281	0.0029968	78	26028	rs1308898806	0.0091	0.0091	0.0084	0.0097	0.0266	0.0089	0.0089	0.0257	0.0253	0.0012	0.0037	0.0030	2.534e-05	0.0099	0.0248	0.0085	0.0089	0.0266	0.0066	0.0066	0.0062	0.0070	0.0245	0.0063	0.0061	0.0209	0.0196	0.0016	0.0033	0.0035	0.0032	0.0002	0.0096	0.0103	0.0093	0.0081	0.0245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2413.86	34	chr1	54813813	.	G	GA	2413.86	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.14;DP=763;ExcessHet=0.0082;FS=5.683;InbreedingCoeff=0.4474;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=17.75;ReadPosRankSum=1.76;SOR=0.368	GT:AD:DP:GQ:PL	0/1:24,24:48:99:553,0,570	18	1	2	0
chr1	59904999	59904999	C	T	exonic	CYP2J2	.	nonsynonymous SNV	CYP2J2:NM_000775:exon7:c.G1063A:p.A355T,	.	.	420	1045	55	2	0	59	0.0274546	.	.	2808929	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.002	B	0.015	B	0.395	N	1.000	N	0.855	L	-0.34	T	-0.920	T	0.166	T	0.026	3.091	16.32	2.94	0.344	-0.006	5.067	0.102	0.015105775827	0.0011	0.000998403	0.0018	0.0006	0.0007	0	0.0002	0.0011	0.0055	0.0078	0.0015524	240	154602	rs144856672	0.0012	0.0012	0.0009	0.0014	0.0184	0.0011	0.0011	0.0155	0.0145	0.0007	0.0011	3.827e-05	7.56e-05	0	0.0184	0.0006	0.0017	0.0085	0.0010	0.0010	0.0009	0.0011	0.0085	0.0009	0.0008	0.0065	0.0057	0.0006	0	0.0012	0	0	0	0.0102	0.0008	0.0043	0.0085	0.024	0.47745	D	0.006	0.70582	D	0.002	0.09854	B	0.015	0.17295	B	0.395206	0.13200	N	0.748294	0.999761	0.20447	N	1.79	0.46772	L	-0.34	0.68474	T	0.11	0.05706	N	0.035	0.01004	-0.9203	0.45513	T	0.166	0.50356	T	10	0.0077751577	0.00177	T	0.015106	0.35650	T	0.102	0.29158	.	.	0.519783508757	0.51621	0.3072233096902115	0.30635	0.121399189347	0.13675	0.226801514626	0.01740	T	0.113322	0.43027	T	-0.579393	0.00194	T	-0.599907	0.12819	T	0.023003499802571	0.01024	T	0.765923	0.39354	T	0.063747086	0.13454	0.08463631	0.19484	0.063747086	0.13453	0.08463631	0.19483	-4.378	0.29257	T	.	.	0.078	0.06990	B	.	.	0.592324	0.09609	6.382	0.99512910124413778	0.68739	0.25292	0.22655	N	AEFI	0.434115	0.49529	N	-0.680728933999535	0.16572	0.8454822	-0.632723241483656	0.18655	0.9974999	0.00716124955779844	0.11400	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.95	2.94	0.33188	0.084000	0.14738	-9.174000	0.00857	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.336000	0.25340	0.1638:0.6205:0.1376:0.0781	5.067	0.13926	912	0.21483	.	.	.	.	.	.	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	1562.98	34	chr1	59904999	.	C	T	1562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.830e-01;DP=843;ExcessHet=0.0000;FS=0.660;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.58;ReadPosRankSum=-1.422e+00;SOR=0.798	GT:AD:DP:GQ:PL	0/1:68,67:135:99:1577,0,1654	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|2:27,0,8:35:51:0|1:77935995_G_A:51,132,1126,0,994,971:77935995	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|2:27,0,8:35:51:0|1:77935995_G_A:51,132,1126,0,994,971:77935995	11	0	4	2
chr1	85045302	85045302	C	T	exonic	MCOLN3	.	nonsynonymous SNV	MCOLN3:NM_001253693:exon2:c.G59A:p.C20Y	.	.	427	1092	3	0	0	3	0.00137174	.	.	2356878	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.046	N	0.998	N	1.04	L	-0.99	T	-0.958	T	0.134	T	0.062	0.858	8.473	2.29	0.707	0.009	7.638	0.132	0.0167469506246	0.0004	.	0.0007	0	0.0004	0	0.0012	0.0010	0	0.0001	0.0005886	91	154602	rs147497215	0.0004	0.0004	0.0004	0.0005	0.0005	0.0004	0.0004	0.0004	0.0004	2.987e-05	0.0004	0.0070	0	0.0010	0.0003	0.0002	0.0008	0.0005	0.0005	0.0005	0.0004	0.0006	0.0007	0.0004	0.0004	0.0004	0.0004	0	0	0.0007	0.0052	0	0.0011	0	0.0005	0.0010	0.0002	0.125	0.27310	T	0.368	0.24913	T	0.0	0.02946	B	0.0	0.01387	B	0.045689	0.23511	N	0.508271	0.999985	0.22526	N	1.14	0.29013	L	-1.72	0.83241	D	-0.88	0.33798	N	0.175	0.24634	-0.9576	0.39626	T	0.134	0.44856	T	10	0.006939471	0.00158	T	0.016747	0.38152	T	0.132	0.35948	.	.	0.848652206473	0.84720	0.26327752878676386	0.26240	0.0897466238182	0.10134	0.437514722347	0.30238	T	0.107997	0.42066	T	-0.400393	0.02302	T	-0.465742	0.25976	T	0.0112365973927711	0.00165	T	0.593841	0.21938	T	0.11929244	0.28092	0.09726131	0.23144	0.11929244	0.28091	0.09726131	0.23143	-2.738	0.08425	T	.	.	0.057	0.03266	B	.;.;.	.;.;.	0.776477	0.11468	8.070	0.73706220527889632	0.10426	0.06073	0.12045	N	AEFBI	0.087563	0.17755	N	-0.890757916165248	0.11062	0.531821	-0.818503237668552	0.14048	0.7319856	0.00916915692593096	0.11808	0.623552	0.39893	0	0.588015	0.36545	0	0.667671	0.60360	0	0.530356	0.10902	0	.	.	5.55	2.29	0.27658	0.081000	0.14677	-0.250000	0.10515	0.549000	0.26987	0.032000	0.20554	0.000000	0.08366	0.376000	0.26245	0.0:0.5593:0.0:0.4407	7.638	0.27443	649	0.63102	.;.;.	.	.	.	.	.	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	532.98	33	chr1	85045302	.	C	T	532.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.530e-01;DP=719;ExcessHet=0.0000;FS=1.075;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.69;ReadPosRankSum=0.179;SOR=0.512	GT:AD:DP:GQ:PL	0/1:32,23:55:99:547,0,847	20	0	1	0
chr1	85158755	85158755	A	G	exonic	SYDE2	.	nonsynonymous SNV	SYDE2:NM_032184:exon7:c.T3580C:p.F1194L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.089	N	0.999	N	-0.345	N	3.28	T	-0.932	T	0.002	T	0.048	2.206	13.34	2.91	0.308	0.889	1.797	0.020	0.00654077122755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.59e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.23905	T	0.034	0.52727	D	0.0	0.02946	B	0.0	0.01387	B	0.089341	0.20432	N	0.527396	0.998858	0.21853	N	0	0.06538	N	3.28	0.06523	T	1.02	0.01369	N	0.042	0.01498	-0.9316	0.43903	T	0.002	0.00615	T	10	0.023369968	0.00610	T	0.006541	0.17243	T	0.020	0.03691	0.21	0.12781	0.0551355673512	0.04727	0.06610387111215123	0.06549	0.14237696093	0.16047	0.397826164961	0.24766	T	0.004802	0.04217	T	-0.355873	0.04369	T	-0.748963	0.03526	T	0.219421803951263	0.21435	T	0.513449	0.16474	T	0.053474132	0.10124	0.045122	0.05999	0.053474132	0.10124	0.045122	0.05999	-2.743	0.07671	T	.	.	0.392	0.59120	A	.	.	2.506013	0.32358	19.02	0.99124857947199441	0.53089	0.82995	0.42152	D	AEFGBI	0.191288	0.31849	N	-0.773932366158561	0.13992	0.6934386	-0.537640718649593	0.21134	1.141888	0.0731348463355377	0.15624	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.97	2.91	0.32903	2.498000	0.45023	3.315000	0.37496	-0.114000	0.14653	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.3343:0.3872:0.1116:0.1669	1.797	0.02879	676	0.60355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	606.1	33	chr1	85158755	.	A	G	606.1	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-2.537e+00;DP=1578;ExcessHet=3.5521;FS=65.892;InbreedingCoeff=-0.2459;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.89;ReadPosRankSum=-3.190e-01;SOR=9.887	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,21:97:99:0|1:85158755_A_G:104,0,1888:85158755	13	0	8	0
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	0/1:54,11:79:51:.:.:51,0,2559	1	0	17	3
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	1/1:0,260,0,0:260:99:.:.:11016,784,0,11016,784,11016,11016,784,11016,11016	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	1/1:0,260,0,0:260:99:.:.:11016,784,0,11016,784,11016,11016,784,11016,11016	0	12	6	0
chr1	89058033	89058033	T	C	exonic	GBP1	.	nonsynonymous SNV	GBP1:NM_002053:exon6:c.A833G:p.K278R,	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.009	B	0.032	B	0.006	N	1.000	N	1.235	L	0.02	T	-1.007	T	0.063	T	0.056	1.890	12.28	0.569	-0.185	0.378	5.939	0.048	0.0247338993938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.16e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.262	0.22895	T	0.009	0.15093	B	0.032	0.22131	B	0.005948	0.32383	N	0.326005	1	0.08975	N	1.36	0.34107	L	0.02	0.62318	T	-1.92	0.44657	N	0.149	0.15187	-1.0066	0.27973	T	0.063	0.26279	T	10	0.10939723	0.20406	T	0.024734	0.47726	T	0.048	0.13305	0.5	0.59147	0.55646128548	0.55305	0.08084902724029047	0.08019	0.0702128094216	0.07864	0.329323649406	0.14831	T	0.21395	0.57540	T	-0.251867	0.13871	T	-0.599566	0.12848	T	0.12971295603827	0.15355	T	0.126587	0.00987	T	0.11423041	0.26970	0.10810957	0.26037	0.11423041	0.26969	0.10810957	0.26037	-6.172	0.47696	T	.	.	0.072	0.04238	B	.	.	1.140808	0.15283	11.73	0.97636502814722048	0.35051	0.03951	0.09352	N	AEFBI	0.063240	0.12210	N	-0.971011871634508	0.09226	0.4358135	-1.01607473714154	0.09431	0.4691991	0.0556834617070146	0.15027	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	4.48	0.569	0.16525	0.141000	0.15897	-0.203000	0.10926	0.609000	0.47794	0.000000	0.06391	0.000000	0.08366	0.290000	0.24260	0.0:0.0896:0.3148:0.5955	5.939	0.18421	751	0.51694	Guanylate-binding protein, N-terminal|GB1/RHD3-type guanine nucleotide-binding (G) 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	1746.98	33	chr1	89058033	.	T	C	1746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.900e-01;DP=829;ExcessHet=0.0000;FS=1.364;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=0.638;SOR=0.567	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1761,0,1834	20	0	1	0
chr1	92180595	92180595	A	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon6:c.A1373G:p.H458R	.	.	430	1071	21	0	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.001	B	0.533	N	1.000	N	1.245	L	3.57	T	-0.907	T	0.003	T	0.014	-2.362	0.004	-9.21	-1.962	-0.714	8.760	0.033	0.00760635437972	0.0002	0.00159744	0.0027	0	0	0	0	0.0013	0.0042	0.0058	0.0004851	75	154602	rs61741973	0.0007	0.0007	0.0005	0.0009	0.0165	0.0007	0.0007	0.0138	0.0128	6.333e-05	0.0004	0.0022	0	0	0.0165	0.0002	0.0010	0.0073	0.0005	0.0005	0.0004	0.0006	0.0081	0.0004	0.0003	0.0061	0.0054	7.218e-05	0	6.536e-05	0.0020	0.0002	0	0	0.0003	0.0009	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	0.532872	0.11619	N	0.790971	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9069	0.47227	T	0.003	0.00929	T	10	0.0044327974	0.00091	T	0.007606	0.20192	T	0.033	0.08068	.	.	0.0138822411134	0.00435	0.10000362729047764	0.09931	.	.	0.238763928413	0.02680	T	0.008553	0.07843	T	-0.776713	0.00012	T	-0.884885	0.00615	T	0.0113037481900436	0.00167	T	0.355164	0.11736	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.02458	B	.;.;.;.	.;.;.;.	-1.484470	0.00304	0.005	0.18901051738063332	0.00615	0.02180	0.06383	N	AEFGBI	0.034787	0.04369	N	-1.69319894233088	0.00866	0.03747364	-1.80467435958165	0.00744	0.03317401	0.738082412563993	0.23165	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.49	-9.21	0.00578	-0.750000	0.04913	-3.608000	0.02661	-0.549000	0.04906	0.000000	0.06391	0.000000	0.08366	0.165000	0.20815	0.2759:0.0:0.5178:0.2063	8.760	0.33829	730	0.54327	.;.;.;.	.	.	.	.	.	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	3195.11	73	chr1	92180595	.	A	G	3195.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.246e+00;DP=1501;ExcessHet=0.1072;FS=0.931;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=2.12;SOR=0.613	GT:AD:DP:GQ:PL	0/1:79,73:152:99:1628,0,2109	19	0	2	0
chr1	94189222	94189222	T	C	exonic	ARHGAP29	.	nonsynonymous SNV	ARHGAP29:NM_001328665:exon13:c.A1378G:p.I460V	.	.	438	1079	5	0	0	5	0.0023116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.52	T	0.001	B	0.001	B	0.900	N	1.000	N	0.425	N	1.98	T	-0.922	T	0.008	T	0.033	0.751	7.981	-3.47	-0.833	-0.231	7.124	0.018	0.00279206099508	.	0.000798722	0.0001	0	0.0002	0	0	0	0	0.0008	0.0001164	18	154602	rs532953220	6.382e-05	6.43e-05	3.686e-05	9.107e-05	0.0014	5.311e-05	4.926e-05	0.0007	0.0005	6.01e-05	2.282e-05	0	0	0	0.0014	1.891e-05	4.982e-05	0.0007	3.283e-05	3.281e-05	2.571e-05	4.028e-05	0.0008	1.26e-05	7.98e-06	0.0003	0.0002	2.405e-05	0	0	0	0	0	0	0	0	0.0008	0.572	0.06145	T	0.309	0.19782	T	0.001	0.07471	B	0.0	0.01387	B	0.899583	0.08629	N	0.941684	1	0.08975	N	0.455	0.12820	N	1.98	0.21865	T	-0.03	0.07444	N	0.057	0.02861	-0.9223	0.45238	T	0.008	0.02926	T	10	0.0038884878	0.00074	T	0.002792	0.05810	T	0.018	0.03083	.	.	0.110392049598	0.10638	0.17795188251831348	0.17714	0.114630433972	0.12926	0.275270462036	0.06842	T	0.023127	0.17709	T	-0.654897	0.00068	T	-0.803847	0.01808	T	0.00838637687599678	0.00101	T	0.542746	0.18485	T	0.02397662	0.01186	0.021897929	0.00227	0.02397662	0.01186	0.021897929	0.00227	-3.556	0.17225	T	.	.	0.057	0.00524	B	.	.	0.163267	0.05536	1.995	0.67327486260995439	0.08322	0.10088	0.15690	N	AEBI	0.075007	0.15051	N	-1.25079206633741	0.04289	0.1932995	-1.2239356063592	0.05527	0.263604	0.91325485819146	0.26418	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	5.76	-3.47	0.04452	-0.234000	0.09044	-2.348000	0.03868	-0.127000	0.13314	0.000000	0.06391	0.000000	0.08366	0.994000	0.71098	0.0:0.3884:0.1239:0.4877	7.124	0.24639	776	0.48302	.	.	.	.	.	.	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	0.02381	608.98	37	chr1	94189222	.	T	C	608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.650e-01;DP=767;ExcessHet=0.0000;FS=0.972;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.23;ReadPosRankSum=1.55;SOR=0.483	GT:AD:DP:GQ:PL	0/1:39,27:66:99:623,0,1032	20	0	1	0
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|1:81,26:107:99:0|1:99884396_T_C:321,0,2574:99884396	4	0	17	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.043	B	0.045	B	0.000	D	0.997	D	0	N	1.65	T	-1.054	T	0.016	T	0.371	2.784	15.27	5.8	2.216	5.903	16.134	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	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	0.3571	4473.53	34	chr1	99884400	.	T	C	4473.53	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-3.868e+00;DP=2293;ExcessHet=17.4423;FS=183.125;InbreedingCoeff=-0.5526;MLEAC=15;MLEAF=0.357;MQ=60.00;MQRankSum=0.00;QD=2.55;ReadPosRankSum=1.66;SOR=12.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,26:107:99:0|1:99884396_T_C:321,0,2604:99884396	6	0	15	0
chr1	100724743	100724743	A	C	exonic	VCAM1	.	nonsynonymous SNV	VCAM1:NM_001078:exon4:c.A781C:p.K261Q	.	.	.	.	.	.	.	.	.	.	.	2756241	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.21	T	1.0	D	0.999	D	0.024	N	0.767	N	0.19	N	2.72	T	-1.024	T	0.024	T	0.455	1.817	12.04	5.38	2.174	1.727	12.068	0.082	0.00976115925942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	0	2.752e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.29959	T	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.024166	0.26309	N	0.465669	0.767194	0.29476	N	-0.715	0.01801	N	2.72	0.11947	T	-1.18	0.32185	N	0.266	0.30118	-1.0242	0.22344	T	0.024	0.10329	T	10	0.19423825	0.35226	T	0.009761	0.25472	T	0.082	0.23913	0.487	0.57098	0.618929047576	0.61584	0.421805601302167	0.42097	0.69741224872	0.60903	0.448212206364	0.31700	T	0.087844	0.38030	T	-0.161891	0.26468	T	-0.470322	0.25481	T	0.748604893684387	0.43208	D	0.651335	0.30130	T	0.14842004	0.33885	0.096549205	0.22945	0.14842004	0.33884	0.096549205	0.22945	-1.404	0.02345	T	.	.	0.132	0.28406	B	.;.;.;.	.;.;.;.	3.130573	0.42301	21.5	0.97329705176352166	0.33418	0.66700	0.33170	D	AEFBI	0.373265	0.45860	N	0.249802363934092	0.53628	3.530942	0.330561298587937	0.57343	3.899694	0.99953422609167	0.40238	0.638212	0.43195	0	0.588066	0.40923	0	0.618467	0.43123	0	0.668105	0.65232	0	.	.	5.38	5.38	0.77279	1.681000	0.37234	2.257000	0.31732	0.752000	0.88150	0.991000	0.37257	0.904000	0.28019	0.996000	0.76049	1.0:0.0:0.0:0.0	12.068	0.52897	427	0.81056	.;.;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin-like domain|Immunoglobulin V-set 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	0.02381	1872.98	38	chr1	100724743	.	A	C	1872.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.422;DP=850;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.28;ReadPosRankSum=-1.396e+00;SOR=0.712	GT:AD:DP:GQ:PL	0/1:67,74:141:99:1887,0,1702	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	0/1:15,15,0:30:99:585,0,585,630,630,1260	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	0/1:15,15,0:30:99:585,0,585,630,630,1260	1	11	8	0
chr1	110952145	110952145	G	T	exonic	LRIF1	.	nonsynonymous SNV	LRIF1:NM_018372:exon2:c.C739A:p.Q247K,	.	.	433	1086	3	0	0	3	0.00137931	.	.	3446082	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.13	T	0.017	B	0.033	B	0.017	N	1.000	D	0.46	N	1.75	T	-1.088	T	0.022	T	0.182	3.010	16.04	4.4	2.679	4.597	13.812	0.041	0.00516938152182	7.7e-05	.	8.239e-05	0	0	0.0001	0	0.0001	0	0	6.47e-05	10	154602	rs139818648	4.31e-05	4.309e-05	2.722e-05	5.913e-05	0.0007	3.442e-05	3.129e-05	0.0003	0.0002	0.0004	0	0.0003	0	0	0.0007	2.518e-05	0.0002	0	5.911e-05	5.906e-05	8.997e-05	2.686e-05	6.544e-05	3.076e-05	2.209e-05	1.972e-05	1.125e-05	4.812e-05	0	6.544e-05	0.0003	0	0	0.0034	5.881e-05	0	0	0.092	0.31682	T	0.154	0.32040	T	0.017	0.17573	B	0.033	0.22329	B	0.016553	0.27949	N	0.357109	0.942426	0.81001	D	1.385	0.34509	L	1.75	0.26152	T	-2.03	0.46673	N	0.137	0.13484	-1.0882	0.05839	T	0.022	0.09375	T	10	0.099448025	0.18047	T	0.005169	0.13156	T	0.041	0.10877	.	.	0.218112801441	0.21410	0.2897060030115049	0.28883	0.22471395681	0.25003	0.396102845669	0.24526	T	0.063159	0.32104	T	-0.348824	0.04801	T	-0.502169	0.22123	T	0.0601496373478439	0.07193	T	0.633137	0.24745	T	0.19367136	0.41087	0.150084	0.35411	0.19367136	0.41087	0.150084	0.35410	-4.234	0.27241	T	0.34492134097300914	0.44248	0.086	0.10787	B	.	.	3.000738	0.40094	21.1	0.9908407680674246	0.52051	0.96067	0.67383	D	AEFDBI	0.567170	0.57286	D	-0.0505105069669052	0.39580	2.336334	0.156032078111303	0.47463	2.976119	0.999656564524348	0.41424	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.37	4.4	0.52402	4.695000	0.61453	9.698000	0.81294	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8467:0.1533	13.812	0.62762	625	0.65529	.	.	.	.	.	.	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	1705.98	34	chr1	110952145	.	G	T	1705.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.149e+00;DP=879;ExcessHet=0.0000;FS=2.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.22;ReadPosRankSum=-7.970e-01;SOR=0.947	GT:AD:DP:GQ:PL	0/1:96,71:167:99:1720,0,2781	20	0	1	0
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	0/1:84,39:132:99:194,0,1150	0	0	21	0
chr1	115992107	115992107	T	C	exonic	SLC22A15	.	nonsynonymous SNV	SLC22A15:NM_018420:exon2:c.T164C:p.L55P,	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.891	P	0.471	P	0.017	N	1.000	D	0.41	N	-0.53	T	-0.935	T	0.145	T	0.552	2.170	13.21	2.04	0.086	2.701	7.380	0.363	0.0277407318707	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1307233788	2.737e-06	2.736e-06	1.361e-06	4.126e-06	0.0002	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.698e-06	0	0	6.568e-06	6.566e-06	0	1.344e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.087	0.52492	T	0.353	0.25591	T	0.0	0.49025	B	0.001	0.46788	B	0.016781	0.27892	N	0.347424	0.999949	0.51968	D	1.155	0.29575	L	-1.11	0.77466	T	-0.26	0.15178	N	0.747	0.83473	-0.9350	0.43394	T	0.145	0.46786	T	10	0.59715706	0.66706	D	0.027741	0.50513	D	0.363	0.68319	0.616	0.75000	0.413891365518	0.41003	0.725072107202105	0.72451	0.650003792899	0.58294	0.516417741776	0.41122	T	0.008443	0.07749	T	0.0335501	0.56196	T	-0.189584	0.55628	T	0.426266968250275	0.29922	T	0.649735	0.26051	T	0.118760705	0.27975	0.20941064	0.45285	0.118760705	0.27975	0.20941064	0.45284	-4.237	0.27284	T	.	.	0.077	0.21201	B	.;.	.;.	2.653449	0.34557	19.66	0.98104464683972847	0.38302	0.84725	0.43812	D	AEFBI	0.498419	0.53253	N	-0.388771063360684	0.25867	1.407457	-0.26158760531793	0.29374	1.645228	0.851777390974271	0.25058	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.67	2.04	0.25787	2.129000	0.41677	2.847000	0.35116	-0.122000	0.13826	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.0:0.0697:0.2725:0.6578	7.380	0.26021	892	0.26670	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	0.02381	1897.98	33	chr1	115992107	.	T	C	1897.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.940e+00;DP=863;ExcessHet=0.0000;FS=2.877;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=-1.051e+00;SOR=0.937	GT:AD:DP:GQ:PL	0/1:77,73:150:99:1912,0,2121	20	0	1	0
chr1	116128223	116128223	G	T	exonic	MAB21L3	.	stopgain	MAB21L3:NM_152367:exon6:c.G739T:p.E247X,	.	.	432	1088	2	0	0	2	0.000918274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.528	N	1.000	A	.	.	.	.	.	.	.	.	.	4.788	27.0	1.14	-0.025	0.715	12.038	.	.	7.7e-05	.	0.0002	0	8.64e-05	0	0	0.0002	0.0011	0.0004	0.0001746	27	154602	rs149122915	0.0002	0.0002	0.0002	0.0002	0.0033	0.0002	0.0002	0.0022	0.0018	0	0.0002	0.0002	0	0	0.0033	0.0002	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	2.413e-05	0	0.0003	0.0006	0	9.418e-05	0.0063	0.0003	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.527948	0.11669	N	0.781774	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252313	0.78818	D	0.435172	0.93191	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.163065	0.96216	35	0.99532023468277342	0.69963	0.71520	0.35048	D	AEFBI	0.161709	0.28780	N	0.152972242583021	0.48953	3.101266	-0.0677785916068165	0.36731	2.141359	0.00527281036455557	0.10885	0.497415	0.19182	0	0.546412	0.12157	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.36	1.14	0.19817	0.761000	0.26154	1.480000	0.26815	-0.273000	0.06669	0.979000	0.35152	0.997000	0.33255	0.911000	0.44643	0.0659:0.4676:0.4665:0.0	12.038	0.52733	881	0.29269	Mab-21 domain|Mab-21 domain	.	.	.	.	.	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	1170.98	34	chr1	116128223	.	G	T	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.329e+00;DP=851;ExcessHet=0.0000;FS=0.754;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.20;ReadPosRankSum=-3.190e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:47,49:96:99:1185,0,1182	20	0	1	0
chr1	144435839	144435839	C	G	exonic	NBPF15	.	nonsynonymous SNV	NBPF15:NM_001385417:exon6:c.G508C:p.D170H	.	.	465	910	147	0	0	147	0.0747331	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.331e-05	8.551e-05	0	2.723e-05	4.948e-05	2.21e-06	8.3e-07	8.2e-06	3.07e-06	4.948e-05	0	0	0	0	0	0	0	0	0	.	.	.	0.027	0.55341	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	0.02839	T	.	.	.	0.126	0.11912	.	.	.	.	.	.	.	0.072508216	0.10832	T	.	.	.	.	.	.	.	.	.	0.02086796461604304	0.02039	.	.	.	.	.	0.035888	0.23893	T	.	.	.	.	.	.	.	.	.	0.874313	0.58483	D	.	.	.	.	.	.	.	.	-7.302	0.56210	T	.	.	0.149	0.32945	B	.;.;.	.;.;.	0.829778	0.12010	8.569	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.760000	0.01905	-4.297000	0.02231	-3.345000	0.00094	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	.	.	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.1	404.84	72	chr1	144435839	.	C	G	404.84	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-4.463e+00;DP=1565;ExcessHet=0.7148;FS=12.124;InbreedingCoeff=-0.1183;MLEAC=4;MLEAF=0.100;MQ=31.23;MQRankSum=-1.852e+00;QD=1.07;ReadPosRankSum=2.75;SOR=2.975	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:80,10:90:99:0|1:144435839_C_G:179,0,3321:144435839	16	0	4	1
chr1	145241985	145241985	C	T	exonic	PPIAL4D;PPIAL4E;PPIAL4F	.	nonsynonymous SNV	PPIAL4E:NM_001144032:exon1:c.G140A:p.R47H	.	.	577	942	3	0	0	3	0.00158983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.001	B	0.000	N	0.999	N	-2.185	N	1.98	T	-0.906	T	0.003	T	0.071	-0.174	3.152	-0.837	-3.236	3.681	3.663	0.127	0.192108095742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1450763932	0.0036	0.0042	0.0038	0.0035	0.0044	0.0035	0.0035	0.0042	0.0042	0.0004	0.0026	0.0004	0	0.0021	0.0019	0.0044	0.0029	0.0020	0.0019	0.0028	0.0019	0.0020	0.0031	0.0017	0.0017	0.0028	0.0026	0.0005	0	0.0022	0	0	0.0013	0	0.0031	0.0060	0.0009	0.137	0.25979	T	0.19	0.28482	T	.	.	.	.	.	.	0.000087	0.51296	N	0.128764	0.998812	0.21886	N	.	.	.	1.98	0.21865	T	0.41	0.03407	N	0.105	0.08925	-0.9058	0.47355	T	0.003	0.00800	T	10	0.084634274	0.14205	T	0.192108	0.86224	D	.	.	0.679	0.81691	0.0138822411134	0.00435	0.32766997704891854	0.32679	.	.	0.468048810959	0.34412	T	9.62E-4	0.00509	T	-0.327163	0.06329	T	-0.707723	0.05414	T	0.796152830123901	0.46095	D	0.787321	0.42620	T	0.024300369	0.01248	0.02574516	0.00631	0.024300369	0.01247	0.02574516	0.00630	-4.981	0.36633	T	.	.	0.092	0.13597	B	.	.	1.557744	0.19955	14.52	0.7721804143403922	0.11784	0.47194	0.27929	N	AEFI	0.207469	0.33364	N	-2.09208996849776	0.00133	0.005705888	-2.03517429235918	0.00258	0.01136978	2.1143370172259E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	0.419	-0.837	0.10221	2.901000	0.48393	0.079000	0.14366	-0.945000	0.02064	1.000000	0.71638	0.388000	0.24649	0.002000	0.04165	0.2247:0.5691:0.0:0.2063	3.663	0.07783	485	0.77085	Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain|Cyclophilin-type peptidyl-prolyl cis-trans isomerase domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	102.37	17	chr1	145241985	.	C	T	102.37	.	AC=1;AF=0.025;AN=40;BaseQRankSum=3.64;DP=306;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.025;MQ=24.53;MQRankSum=0.342;QD=5.12;ReadPosRankSum=0.867;SOR=0.693	GT:AD:DP:GQ:PL	0/1:14,6:20:99:116,0,348	19	0	1	1
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	0/1:105,30:135:99:.:.:279,0,3018	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	0/1:105,20:130:99:.:.:213,0,3024	6	0	14	1
chr1	146994534	146994534	C	G	exonic	NBPF12	.	nonsynonymous SNV	NBPF12:NM_001278141:exon37:c.C4333G:p.L1445V,	.	.	439	995	80	8	0	96	0.0460211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	.	.	.	.	.	.	1.000	N	1.95	M	3.87	T	-0.964	T	0.008	T	0.097	0.149	4.800	0.429	0.465	0.816	.	0.037	.	.	0.00878594	0.0133	0.0008	0.0125	0	0.0008	0.0115	0.0275	0.0385	0.0105367	1629	154602	rs200424287	0.0097	0.0097	0.0089	0.0105	0.0367	0.0096	0.0095	0.0320	0.0301	0.0017	0.0071	0.0172	0	0.0012	0.0367	0.0087	0.0129	0.0303	0.0070	0.0070	0.0067	0.0073	0.0296	0.0066	0.0065	0.0256	0.0241	0.0012	0	0.0057	0.0208	0	0.0007	0.0136	0.0098	0.0130	0.0296	.	.	.	0.04	0.53072	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.051	0.25867	-0.9640	0.38409	T	0.008	0.02968	T	6	0.0031640828	0.00053	T	.	.	.	.	.	.	.	.	.	1.2685876947599533E-4	0.00011	.	.	.	.	.	0.022672	0.17437	T	-0.596757	0.00153	T	-0.603517	0.12517	T	0.00373065755183608	0.00040	T	0.717528	0.33152	T	0.070765465	0.15614	0.07999147	0.18057	0.070765465	0.15614	0.07999147	0.18056	-3.886	0.22092	T	.	.	0.242	0.47600	B	.;.;.;.;.;.	.;.;.;.;.;.	0.664702	0.10331	7.061	0.74286934923283787	0.10639	0.12687	0.17419	N	AEFCI	0.077979	0.15723	N	-0.49473663388212	0.22253	1.186899	-0.71056478873505	0.16698	0.884545	1.28053174850038E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	0.429	0.429	0.15721	0.830000	0.27115	-4.642000	0.02055	-0.678000	0.04252	0.008000	0.17931	0.000000	0.08366	0.001000	0.02609	.	.	.	803	0.44167	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	.	.	.	.	.	Likely benign	0	0	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	3591.98	70	chr1	146994534	.	C	G	3591.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.836e+00;DP=1456;ExcessHet=0.0000;FS=27.051;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.48;MQRankSum=9.24;QD=22.17;ReadPosRankSum=1.88;SOR=0.057	GT:AD:DP:GQ:PL	0/1:34,128:162:99:3606,0,852	20	0	1	0
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	0/1:343,81:424:99:1170,0,9288	1	0	20	0
chr1	149910644	149910644	C	T	exonic	SV2A	.	nonsynonymous SNV	SV2A:NM_001328674:exon5:c.G1015A:p.V339I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.971	D	0.612	P	0.000	D	1.000	D	1.03	L	0.4	T	-1.083	T	0.101	T	0.602	4.829	27.4	5.09	2.638	7.651	16.025	0.151	0.00800191068695	.	0.000199681	9.03e-06	0	0	0	0	0	0	6.559e-05	1.29e-05	2	154602	rs587611211	9.579e-06	1.026e-05	8.169e-06	1.1e-05	7.56e-05	5.56e-06	4.35e-06	2.004e-05	1.055e-05	2.987e-05	0	0	7.56e-05	0	0	8.095e-06	0	1.16e-05	6.566e-06	6.562e-06	0	1.343e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.056	0.38185	T	0.087	0.40747	T	0.971	0.57185	D	0.612	0.51145	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.005	0.25186	L	0.4	0.57261	T	-0.36	0.13035	N	0.361	0.40264	-1.0826	0.06852	T	0.101	0.37493	T	10	0.2986086	0.47416	T	0.008002	0.21213	T	0.151	0.39764	0.582	0.70861	0.229543500084	0.22568	0.5297031435939089	0.52894	0.600742330255	0.55147	0.685168147087	0.65012	T	0.251589	0.62186	T	-0.11187	0.34459	T	-0.229342	0.51836	T	0.612486362457275	0.36900	D	0.949755	0.80719	D	0.11406418	0.26931	0.11931769	0.28801	0.11406418	0.26931	0.11931769	0.28800	-7.172	0.57322	T	.	.	0.160	0.38409	B	.;.	.;.	5.073460	0.84627	28.4	0.99879128594116051	0.95572	0.94450	0.61205	D	AEFBCI	0.902372	0.85019	D	0.497285924414361	0.66931	5.01449	0.560477541246297	0.72129	5.761474	0.999999999998644	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.724815	0.87919	0	0.579976	0.35079	0	.	.	5.09	5.09	0.68647	6.163000	0.71702	5.840000	0.50240	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:1.0:0.0:0.0	16.025	0.80337	190	0.92594	Major facilitator superfamily domain;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2123.98	38	chr1	149910644	.	C	T	2123.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=875;ExcessHet=0.0000;FS=0.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=2.21;SOR=0.786	GT:AD:DP:GQ:PL	0/1:84,86:170:99:2138,0,1981	20	0	1	0
chr1	151289853	151289853	C	A	exonic	ZNF687	.	nonsynonymous SNV	ZNF687:NM_001304764:exon6:c.C2810A:p.P937H	Paget disease of bone 6, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	789841	not_provided|Paget_disease_of_bone_6	MedGen:C3661900|MONDO:MONDO:0014792,MedGen:C4085250,OMIM:616833	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.975	D	0.742	P	0.003	N	0.993	D	0.695	N	5.88	T	-0.436	T	0.002	T	0.234	1.713	11.69	2.15	0.301	2.128	14.254	0.075	0.0168101362587	.	.	0.0004	0	0.0013	0.0008	0	0.0005	0	0.0004	0.0001488	23	154602	rs148402804	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	3.097e-05	0.0003	0	0.0001	3.992e-05	0.0002	0.0003	0.0002	0.0001	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0001	9.618e-05	0	0.0002	0.0003	0.0002	9.414e-05	0	0.0003	0.0005	0.0004	0.002	0.72154	D	0.047	0.48855	D	0.898	0.49442	P	0.557	0.49454	P	0.003447	0.34930	N	0.000000	0.992963	0.41795	D	0.695	0.17993	N	5.49	0.00930	T	0.02	0.06739	N	0.294	0.38541	-0.4361	0.70860	T	0.002	0.00615	T	10	0.044634283	0.03444	T	0.01681	0.38239	T	0.123	0.34020	.	.	0.0934897674506	0.08844	0.4975312941938317	0.49674	0.710227036587	0.61673	0.454614341259	0.32575	T	0.021003	0.16432	T	-0.429244	0.01498	T	-0.5382	0.18474	T	0.0872432457205677	0.10887	T	0.582242	0.21111	T	0.15824525	0.35612	0.11077933	0.26714	0.15824525	0.35611	0.11077933	0.26714	-6.722	0.51976	T	.	.	0.098	0.23290	B	.;.	.;.	1.548221	0.19848	14.47	0.97185248371855315	0.32740	0.92871	0.56751	D	AEFDBCI	0.207642	0.33380	N	-0.429303228378819	0.24446	1.320078	-0.436306277361276	0.23940	1.308238	0.999447711207512	0.39736	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.16	2.15	0.26590	1.815000	0.38620	1.610000	0.27630	-0.273000	0.06669	0.780000	0.29473	0.958000	0.29226	0.949000	0.49496	0.0:0.5693:0.4307:0.0	14.254	0.65588	91	0.96221	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2177.98	37	chr1	151289853	.	C	A	2177.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.740e-01;DP=849;ExcessHet=0.0000;FS=1.330;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.34;ReadPosRankSum=0.023;SOR=0.583	GT:AD:DP:GQ:PL	0/1:64,78:142:99:2192,0,1758	20	0	1	0
chr1	152109703	152109703	C	G	exonic	TCHH	.	nonsynonymous SNV	TCHH:NM_007113:exon3:c.G3514C:p.E1172Q,	.	.	417	1100	4	0	1	5	0.00181488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.999	D	0.931	D	.	.	1.000	N	0.975	L	3.2	T	-1.006	T	0.018	T	0.247	1.883	12.25	4.07	1.794	-0.140	13.705	0.096	0.00178137424608	8.1e-05	0.000599042	0.0001	0	0	0	0	0	0	0.0008	0.0001164	18	154602	rs373657816	4.664e-05	4.654e-05	3.549e-05	5.791e-05	0.0007	3.738e-05	3.421e-05	0.0005	0.0005	0	0	0	0	0	0.0003	3.604e-06	6.656e-05	0.0007	0.0001	0.0001	5.309e-05	0.0002	0.0022	6.201e-05	5.034e-05	0.0012	0.0009	0	0	6.721e-05	0	0	0	0	6e-05	0	0.0022	0.0	0.91255	D	0.28	0.21678	T	0.999	0.77913	D	0.931	0.66596	D	.	.	.	.	0.99978	0.20372	N	2.08	0.57402	M	3.2	0.07236	T	-0.84	0.22944	N	0.247	0.27910	-1.0056	0.28277	T	0.018	0.07376	T	9	0.017002046	0.00361	T	0.001781	0.03037	T	0.096	0.27654	.	.	0.464784125046	0.46103	0.014560555411158608	0.01413	0.263074763425	0.28864	0.314819097519	0.12636	T	0.001585	0.01021	T	-0.474329	0.00799	T	-0.532105	0.19077	T	0.126530603676838	0.15058	T	0.269973	0.04523	T	0.1764113	0.38553	0.15572976	0.36491	0.1764113	0.38553	0.15572976	0.36490	-7.729	0.59209	D	.	.	0.208	0.43489	B	.;.	.;.	1.076798	0.14596	11.16	0.74798980178628482	0.10831	0.01967	0.05961	N	AEFDBHCI	0.070905	0.14092	N	-0.263294981098295	0.30575	1.706192	-0.40407626496765	0.24876	1.364798	0.999998941768767	0.74766	0.582742	0.33608	0	0.563428	0.19063	0	0.61531	0.40942	0	0.554799	0.18163	0	.	.	4.07	4.07	0.46726	0.678000	0.24956	.	.	0.423000	0.20817	0.019000	0.19563	0.000000	0.08366	0.216000	0.22352	0.0:1.0:0.0:0.0	13.705	0.62113	479	0.77495	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2544.98	66	chr1	152109703	.	C	G	2544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.808;DP=1788;ExcessHet=0.0000;FS=0.523;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=-1.578e+00;SOR=0.632	GT:AD:DP:GQ:PL	0/1:109,102:211:99:2559,0,2747	20	0	1	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|2:265,0,42:307:99:0|1:152214821_T_A:939,1737,12719,0,10982,10855:152214821	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|2:265,0,42:307:99:0|1:152214821_T_A:939,1737,12719,0,10982,10855:152214821	8	0	3	0
chr1	152308312	152308312	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A6574G:p.K2192E,	Ichthyosis vulgaris, Autosomal dominant	.	0	796	719	6	1	732	0.314679	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	-1.1	N	4.69	T	-0.977	T	0.001	T	0.055	0.459	6.492	1.99	-0.043	0.245	5.49	0.020	0.00691589360876	.	.	0.0001	0	0	0	0	7.497e-05	0.0011	0.0005	3.84e-05	1	26028	rs66954353	6.506e-05	6.501e-05	5.314e-05	7.711e-05	0.0003	5.434e-05	5.047e-05	0.0002	0.0001	0	0	0	0	0	0.0003	6.12e-05	6.632e-05	0.0002	3.965e-05	3.949e-05	5.161e-05	2.709e-05	8.841e-05	1.723e-05	1.135e-05	3.769e-05	2.58e-05	0	0	0	0	0	0	0	8.841e-05	0	0	0.358	0.11994	T	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-0.41	0.02942	N	4.69	0.01694	T	0.47	0.03090	N	0.081	0.05670	-0.9769	0.35705	T	0.001	0.00188	T	9	0.027516663	0.00896	T	0.006916	0.18289	T	0.020	0.03691	0.3	0.26683	0.130388298395	0.12655	0.016309325306619656	0.01586	.	.	0.271451950073	0.06331	T	0.020219	0.15960	T	-0.62899	0.00097	T	-0.830759	0.01249	T	0.0464902013553936	0.04873	T	0.277072	0.04771	T	0.060441438	0.12404	0.05331553	0.08958	0.060441438	0.12404	0.05331553	0.08957	-3.692	0.19200	T	.	.	0.087	0.11124	B	.	.	0.351483	0.07246	3.845	0.59927330293800163	0.06340	0.00148	0.00897	N	AEFBI	0.014498	0.00233	N	-1.55397975177907	0.01512	0.06600387	-1.49818149083929	0.02359	0.1083893	1.85635635730227E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.99	1.99	0.25423	-0.351000	0.07760	.	.	-1.790000	0.00639	0.000000	0.06391	0.004000	0.18990	0.000000	0.00833	0.0:0.2239:0.546:0.2301	5.49	0.16063	563	0.71062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	79746.79	67	chr1	152308312	.	T	G,C	79746.79	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-5.400e-01;DP=8463;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.3548;MLEAC=10,1;MLEAF=0.238,0.024;MQ=58.40;MQRankSum=-1.301e+01;QD=10.85;ReadPosRankSum=2.95;SOR=0.689	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:253,409,0:662:99:0|1:152308306_A_G:16218,0,9277,16979,10509,27488:152308306	10	0	10	0
chr1	152309401	152309401	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5485C:p.Y1829H,	Ichthyosis vulgaris, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	3260887	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.91	T	0.003	B	0.005	B	.	.	1.000	N	-0.825	N	4.86	T	-0.966	T	0.001	T	0.069	-0.117	3.428	-1.43	-0.277	0.125	0.932	0.021	0.00489360673844	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs759893827	1.164e-05	0.0002	1.09e-05	1.238e-05	4.475e-05	7.09e-06	5.8e-06	7.42e-06	4.55e-06	2.99e-05	4.475e-05	0	0	0	0	1.08e-05	3.313e-05	0	6.623e-06	0.0007	1.295e-05	0	1.479e-05	0	0	.	.	0	0	0	0	0	0	0	1.479e-05	0	0	1.0	0.00964	T	.	.	.	0.003	0.11197	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	-1.44	0.00566	N	4.86	0.01459	T	1.37	0.00867	N	0.076	0.05037	-0.9664	0.37934	T	0.001	0.00188	T	9	0.029157966	0.01044	T	0.004894	0.12286	T	0.021	0.04004	0.272	0.22210	0.119812018005	0.11559	0.012340637113604397	0.01193	.	.	0.268244296312	0.05913	T	0.020386	0.16063	T	-0.457558	0.01018	T	-0.812162	0.01617	T	0.0706707157387162	0.08745	T	0.348165	0.07698	T	0.024092924	0.01207	0.03233845	0.01953	0.024092924	0.01207	0.03233845	0.01952	-0.555	0.00618	T	.	.	0.071	0.03887	B	.	.	-0.402336	0.02204	0.220	0.51086162983710293	0.04499	0.00208	0.01187	N	AEFBI	0.014728	0.00247	N	-1.58450181843118	0.01344	0.05854634	-1.57670397624381	0.01798	0.08187173	1.54626985065451E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.09	-1.43	0.08418	0.425000	0.21065	.	.	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2265:0.1768:0.4161:0.1807	0.932	0.01252	565	0.70868	.	.	.	.	.	.	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	91.98	67	chr1	152309401	.	A	G	91.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=6.95;DP=5092;ExcessHet=0.0000;FS=10.355;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.92;MQRankSum=-1.956e+01;QD=0.20;ReadPosRankSum=-5.060e+00;SOR=2.110	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:425,33:458:99:0|1:152309401_A_G:106,0,17686:152309401	20	0	1	0
chr1	152309431	152309431	A	G	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.T5455C:p.S1819P,	Ichthyosis vulgaris, Autosomal dominant	.	0	1507	15	0	0	15	0.00495213	.	.	1164060	not_provided	MedGen:C3661900	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.963	D	0.702	P	.	.	1.000	N	1.32	L	3.81	T	-0.948	T	0.009	T	0.224	1.562	11.18	2.82	0.661	0.712	6.509	0.022	0.0042655887967	.	.	1.648e-05	0	0	0	0	1.498e-05	0	6.064e-05	3.84e-05	1	26028	rs754699295	5.971e-05	0.0028	5.519e-05	6.428e-05	0.0008	4.949e-05	4.563e-05	0.0006	0.0005	2.999e-05	2.261e-05	0.0001	0.0008	3.784e-05	0	3.365e-05	3.364e-05	0.0001	0.0008	0.0057	0.0007	0.0009	0.0035	0.0007	0.0006	0.0021	0.0017	0.0002	0.0012	0.0018	0.0003	0.0029	0.0002	0	0.0008	0.0005	0.0035	0.035	0.43708	D	.	.	.	0.963	0.55692	D	0.702	0.54226	P	.	.	.	.	1	0.08975	N	1.83	0.48079	L	3.81	0.03754	T	-2.99	0.62151	D	0.181	0.19593	-0.9475	0.41397	T	0.009	0.03315	T	9	0.09409812	0.16705	T	0.004266	0.10310	T	0.022	0.04323	.	.	0.333906830038	0.33007	0.0059005026785626	0.00559	.	.	0.276070654392	0.06950	T	0.08566	0.37551	T	-0.258639	0.13059	T	-0.609294	0.12041	T	0.335630357265472	0.26450	T	0.347365	0.07649	T	0.37962916	0.59289	0.29499885	0.55531	0.37962916	0.59290	0.29499885	0.55530	-6.129	0.47346	T	.	.	0.227	0.45942	B	.	.	2.071872	0.26345	17.09	0.94045235846636877	0.24169	0.02034	0.06095	N	AEFBI	0.054419	0.09892	N	-0.360126105977561	0.26901	1.471835	-0.544381783131769	0.20954	1.131363	4.64081277013022E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.0	2.82	0.32061	0.771000	0.26294	.	.	0.361000	0.20101	0.005000	0.17040	0.000000	0.08366	0.018000	0.11154	0.8853:0.0:0.1147:0.0	6.509	0.21409	565	0.70868	.	.	.	.	.	.	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	0.04762	3233.11	67	chr1	152309431	.	A	G	3233.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.70;DP=5169;ExcessHet=0.1072;FS=2.670;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.88;MQRankSum=-1.497e+01;QD=3.44;ReadPosRankSum=-3.803e+00;SOR=1.051	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:403,79:482:99:0|1:152309431_A_G:2063,0,16438:152309431	19	0	2	0
chr1	152309635	152309635	T	C	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.A5251G:p.T1751A,	Ichthyosis vulgaris, Autosomal dominant	.	0	1484	38	0	0	38	0.0126414	.	.	2758319	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.003	B	0.008	B	.	.	1.000	N	-0.245	N	4.4	T	-0.902	T	0.001	T	0.054	0.385	6.093	-7.86	-2.869	-4.455	0.643	0.022	0.00137596557186	.	0.000199681	0.0002	9.61e-05	8.637e-05	0.0003	0	0.0002	0	6.056e-05	0.0001423	22	154602	rs577966299	0.0001	0.0073	0.0001	0.0001	0.0005	0.0001	0.0001	0.0003	0.0003	0.0002	2.264e-05	0.0001	0.0005	1.894e-05	0.0002	0.0001	3.364e-05	0.0002	0.0006	0.0096	0.0007	0.0006	0.0022	0.0005	0.0005	0.0012	0.0009	0.0001	0.0012	0.0010	0	0.0010	0.0004	0.0035	0.0008	0.0010	0.0022	0.61	0.05468	T	.	.	.	0.003	0.11197	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-0.255	0.03828	N	4.4	0.02215	T	-0.24	0.10833	N	0.043	0.01577	-0.9024	0.47739	T	0.001	0.00222	T	9	0.015293419	0.00321	T	0.001376	0.01986	T	0.022	0.04323	0.063	0.00257	0.0666544352282	0.05500	0.010453316840408004	0.01006	.	.	0.21237513423	0.00916	T	0.01836	0.14816	T	-0.437997	0.01329	T	-0.866929	0.00772	T	0.0157041039026333	0.00362	T	0.221078	0.02846	T	0.019434154	0.00474	0.02615014	0.00689	0.019434154	0.00473	0.02615014	0.00689	-1.595	0.01970	T	.	.	0.069	0.03093	B	.	.	-1.585595	0.00247	0.004	0.3324786050692059	0.01970	0.00143	0.00871	N	AEFBI	0.017329	0.00447	N	-2.16345743713501	0.00092	0.003956945	-2.24016011655303	0.00091	0.003993062	0.149966739545292	0.17423	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.93	-7.86	0.01052	-4.573000	0.00246	.	.	-0.693000	0.04107	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3589:0.1539:0.1205:0.3667	0.643	0.00761	565	0.70868	.	.	.	.	.	.	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	0.04762	4242.11	40	chr1	152309635	.	T	C	4242.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.79;DP=5481;ExcessHet=0.1072;FS=0.751;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.85;MQRankSum=-1.750e+01;QD=3.63;ReadPosRankSum=-5.168e+00;SOR=0.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:530,75:605:99:0|1:152309616_T_C:1554,0,21689:152309616	19	0	2	0
chr1	152310577	152310577	G	A	exonic	FLG	.	nonsynonymous SNV	FLG:NM_002016:exon3:c.C4309T:p.R1437C,	Ichthyosis vulgaris, Autosomal dominant	.	0	1487	32	2	1	37	0.0119601	.	.	904369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.635	P	.	.	1.000	N	2.39	M	4.65	T	-0.953	T	0.005	T	0.201	1.017	9.153	-0.934	0.063	-0.272	3.196	0.040	.	0.0043	0.00479233	0.0050	0.0008	0.0055	0.0001	0.0014	0.0062	0.0044	0.0061	0.0049353	763	154602	rs12750571	0.0060	0.0060	0.0058	0.0061	0.0248	0.0058	0.0058	0.0215	0.0202	0.0012	0.0051	0.0034	0.0001	0.0014	0.0248	0.0064	0.0063	0.0068	0.0048	0.0048	0.0049	0.0046	0.0070	0.0045	0.0044	0.0065	0.0063	0.0012	0.0264	0.0061	0.0046	0.0002	0.0014	0.0306	0.0070	0.0048	0.0064	0.014	0.53172	D	.	.	.	0.999	0.77913	D	0.635	0.51908	P	.	.	.	.	1	0.08975	N	2.86	0.83026	M	4.65	0.01779	T	-1.23	0.31170	N	0.266	0.30118	-0.9528	0.40485	T	0.005	0.01578	T	9	0.008905023	0.00202	T	.	.	.	0.040	0.10527	.	.	0.278968121808	0.27521	0.015595421109007294	0.01515	.	.	0.213625520468	0.00975	T	0.089724	0.38434	T	-0.578702	0.00196	T	-0.598915	0.12902	T	0.0278192646706579	0.01662	T	0.649435	0.26018	T	0.08136459	0.18690	0.043253686	0.05338	0.08136459	0.18690	0.043253686	0.05338	-10.485	0.76761	D	.	.	0.129	0.27553	B	.	.	1.880204	0.23884	16.19	0.97162728186922065	0.32638	0.01478	0.04921	N	AEFDBI	0.040004	0.05890	N	-0.569226267034253	0.19884	1.044184	-0.851837246202194	0.13244	0.6859478	1.30223998648331E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	2.84	-0.934	0.09897	0.417000	0.20934	.	.	-0.310000	0.06091	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.1466:0.0:0.399:0.4544	3.196	0.06240	586	0.69252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	12148.11	40	chr1	152310577	.	G	A	12148.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=7.65;DP=5026;ExcessHet=0.1072;FS=0.523;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.96;MQRankSum=0.925;QD=13.25;ReadPosRankSum=-1.053e+00;SOR=0.626	GT:AD:DP:GQ:PL	0/1:248,210:458:99:6104,0,6277	19	0	2	0
chr1	152719994	152719994	T	-	exonic	C1orf68	.	frameshift deletion	C1orf68:NM_001024679:exon1:c.473delT:p.V158Afs*23,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3587.94	35	chr1	152719993	.	GT	G	3587.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.441;DP=2757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=1.33;SOR=0.711	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,97:241:99:0|1:152719993_GT_G:3602,0,5701:152719993	20	0	1	0
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	0/1:7,19,0,0:26:99:733,0,236,756,293,1050,756,293,1050,1050	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	3/4:0,0,2,11,13,0,0:26:99:1690,1113,1059,903,859,817,590,549,466,501,558,507,307,0,463,1113,1059,859,549,507,1059,1113,1059,859,549,507,1059,1059	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	3/4:0,0,2,11,13,0,0:26:99:1690,1113,1059,903,859,817,590,549,466,501,558,507,307,0,463,1113,1059,859,549,507,1059,1113,1059,859,549,507,1059,1059	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	3/4:0,0,2,11,13,0,0:26:99:1690,1113,1059,903,859,817,590,549,466,501,558,507,307,0,463,1113,1059,859,549,507,1059,1113,1059,859,549,507,1059,1059	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	3/4:0,0,2,11,13,0,0:26:99:1690,1113,1059,903,859,817,590,549,466,501,558,507,307,0,463,1113,1059,859,549,507,1059,1113,1059,859,549,507,1059,1059	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	3/4:0,0,2,11,13,0,0:26:99:1690,1113,1059,903,859,817,590,549,466,501,558,507,307,0,463,1113,1059,859,549,507,1059,1113,1059,859,549,507,1059,1059	0	1	0	0
chr1	155178572	155178572	G	C	exonic	TRIM46	.	nonsynonymous SNV	TRIM46:NM_001282378:exon6:c.G866C:p.G289A	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.286	B	0.092	B	0.001	D	1.000	N	-1.1	N	0.96	T	-1.073	T	0.035	T	0.361	1.030	9.207	3.51	1.952	5.115	10.703	0.118	0.0318258910904	0.0005	0.000599042	0.0005	9.621e-05	0.0003	0	0.0011	0.0007	0	0.0003	0.0005433	84	154602	rs150155187	0.0007	0.0007	0.0008	0.0007	0.0010	0.0007	0.0007	0.0008	0.0008	0.0001	0.0009	0	0	0.0007	0.0010	0.0008	0.0009	0.0002	0.0004	0.0004	0.0004	0.0005	0.0007	0.0003	0.0003	0.0005	0.0004	0.0001	0	0.0007	0	0	0.0005	0	0.0006	0	0.0004	0.282	0.20002	T	0.356	0.17268	T	0.244	0.31025	B	0.092	0.30031	B	0.000890	0.41231	D	0.167836	0.602017	0.30932	N	-0.805	0.01590	N	-0.03	0.63077	T	0.33	0.03889	N	0.228	0.29774	-1.0732	0.08724	T	0.035	0.14857	T	10	0.017531991	0.00375	T	0.031826	0.53814	D	0.118	0.32913	.	.	0.496399491459	0.49275	0.3710301722538829	0.37017	0.800192881485	0.66204	0.666399896145	0.62325	T	0.003589	0.26242	T	-0.325388	0.06467	T	-0.325678	0.41950	T	0.012284731608261	0.00199	T	0.977102	0.93402	D	0.03757297	0.04843	0.080764666	0.18297	0.03757297	0.04843	0.080764666	0.18297	-3.437	0.15559	T	.	.	0.080	0.17869	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.202027	0.43554	21.8	0.93165558086065803	0.22820	0.82721	0.41910	D	AEFDGBHCI	0.404280	0.47763	N	-0.418560606670902	0.24817	1.343	-0.226746084418193	0.30582	1.723136	0.999999992900283	0.74766	0.706548	0.73137	0	0.626922	0.53725	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	3.51	3.51	0.39297	4.208000	0.58284	6.455000	0.55682	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.853000	0.40368	0.0:0.0:1.0:0.0	10.703	0.45136	70	0.97015	COS domain;COS domain;.;.;COS domain;.;COS domain;COS 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	1246.98	39	chr1	155178572	.	G	C	1246.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.25;DP=857;ExcessHet=0.0000;FS=4.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.82;ReadPosRankSum=0.898;SOR=1.111	GT:AD:DP:GQ:PL	0/1:77,50:127:99:1261,0,1847	20	0	1	0
chr1	156930528	156930528	G	C	splicing	LRRC71	NM_144702:exon12:c.1241-1G>C	.	.	.	.	423	1087	11	1	0	13	0.00594422	1.0000	0.948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.945	15.82	5.29	2.741	2.462	14.303	.	.	0.0011	0.00379393	0.0070	0.0008	0.0040	0	0	0.0032	0.0038	0.0163	0.0020957	324	154602	rs147334331	0.0028	0.0028	0.0025	0.0032	0.0153	0.0028	0.0027	0.0146	0.0143	0.0003	0.0010	0.0028	0	0.0006	0.0039	0.0023	0.0023	0.0153	0.0018	0.0018	0.0016	0.0019	0.0151	0.0016	0.0015	0.0123	0.0113	0.0003	0	0.0008	0.0043	0	0.0006	0	0.0023	0	0.0151	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.101625	0.36157	T	0.0935698	0.76483	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.960962	0.94191	33	0.9949467236067302	0.67687	0.84566	0.43649	D	AEFBCI	.	.	.	1.00135432233439	0.95784	13.96329	0.831559637646466	0.91895	11.12489	0.999999971560932	0.74766	0.080785	0.02172	0	0.109994	0.03358	0	0.059349	0.00372	0	0.10565	0.03146	0	0.973784	0.76300	5.29	5.29	0.74430	2.501000	0.45049	9.733000	0.81406	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	14.303	0.65922	432	0.80690	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1683.11	36	chr1	156930528	.	G	C	1683.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.522;DP=834;ExcessHet=0.1072;FS=0.562;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.46;ReadPosRankSum=-7.060e-01;SOR=0.608	GT:AD:DP:GQ:PL	0/1:55,43:98:99:974,0,1450	19	0	2	0
chr1	159313734	159313734	T	A	exonic	OR10J3	.	nonsynonymous SNV	OR10J3:NM_001004467:exon1:c.A926T:p.N309I,	.	.	430	1088	4	0	0	4	0.00183486	.	.	2343563	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.0	B	0.001	B	.	.	1.000	N	0	N	6.68	T	-1.072	T	0.000	T	0.062	0.998	9.077	-4.28	-0.654	-0.562	4.447	0.015	0.00177054490656	7.7e-05	.	0.0002	0	0.0002	0	0	0.0001	0	0.0009	0.0001682	26	154602	rs200936951	0.0001	0.0001	8.032e-05	0.0001	0.0014	0.0001	9.416e-05	0.0007	0.0006	0	0.0002	0.0015	0	0	0.0014	3.148e-05	0.0002	0.0008	8.572e-05	8.546e-05	0.0001	6.755e-05	0.0006	4.974e-05	3.976e-05	0.0002	9.051e-05	0	0	0	0.0009	0	0	0	8.836e-05	0.0005	0.0006	0.359	0.11957	T	0.116	0.36497	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0	0.06538	N	6.68	0.00503	T	-0.04	0.07590	N	0.105	0.08925	-1.0722	0.08936	T	0.000	0.00075	T	9	0.016811967	0.00356	T	0.001771	0.03012	T	0.015	0.02232	.	.	0.0716867268079	0.06686	.	.	0.00655855936216	0.00574	0.236597836018	0.02492	T	0.001608	0.01039	T	-0.694009	0.00040	T	-0.858827	0.00855	T	0.0194357567005365	0.00647	T	0.322368	0.06563	T	0.050711617	0.09204	0.046778753	0.06594	0.050711617	0.09204	0.046778753	0.06594	-3.108	0.11388	T	.	.	0.121	0.24967	B	.	.	0.260085	0.06385	2.852	0.7183867808870924	0.09766	0.02373	0.06750	N	AEFI	0.019182	0.00643	N	-1.76615391394601	0.00633	0.02731527	-1.76909077296711	0.00864	0.03858782	2.03711474844023E-4	0.05948	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.28	-4.28	0.03475	-0.556000	0.06082	-0.417000	0.09309	-1.437000	0.01108	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4247:0.0:0.2319:0.3434	4.447	0.11023	783	0.47268	.	.	.	.	.	.	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	2143.98	33	chr1	159313734	.	T	A	2143.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.500e-01;DP=1099;ExcessHet=0.0000;FS=4.303;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.40;ReadPosRankSum=-3.830e-01;SOR=0.454	GT:AD:DP:GQ:PL	0/1:102,86:188:99:2158,0,2757	20	0	1	0
chr1	159440212	159440212	C	T	exonic	OR10J1	.	nonsynonymous SNV	OR10J1:NM_012351:exon1:c.C421T:p.R141C	.	.	426	1094	2	0	0	2	0.000913242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.000	N	1.000	N	-2.815	N	1.37	T	-0.912	T	0.004	T	0.173	-3.108	0.001	0.683	0.040	0.160	9.597	0.099	0.00494584489593	.	0.00179712	0.0014	0.0005	0	0	0.0002	1.498e-05	0	0.0095	0.0011384	176	154602	rs139843472	0.0007	0.0007	0.0004	0.0010	0.0106	0.0006	0.0006	0.0100	0.0098	0.0002	2.236e-05	0	0	3.744e-05	0.0002	2.878e-05	0.0007	0.0106	0.0003	0.0003	0.0002	0.0005	0.0087	0.0003	0.0002	0.0066	0.0059	0.0002	0	0	0	0	0	0	1.47e-05	0	0.0087	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	0.000393	0.44960	N	0.000000	1	0.08975	N	-3.085	0.00011	N	.	.	.	.	.	.	.	.	-0.9117	0.46645	T	0.004	0.01159	T	10	0.0038127005	0.00072	T	0.004946	0.12442	T	0.099	0.28413	.	.	0.158396225186	0.15383	0.16304757454488178	0.16224	0.00575121171634	0.00504	0.186696648598	0.00172	T	8.95E-4	0.00456	T	-0.604513	0.00137	T	-0.633156	0.10177	T	0.00605756772135045	0.00067	T	0.60064	0.22426	T	0.029999483	0.02588	0.038119275	0.03613	0.029999483	0.02588	0.038119275	0.03612	4.759	0.00004	T	.	.	0.059	0.01470	B	.;.;.	.;.;.	-0.624096	0.01508	0.095	0.61012553079584919	0.06603	0.00373	0.01896	N	AEFI	0.033788	0.04074	N	-1.86803983332634	0.00399	0.017158	-1.7159170083544	0.01069	0.04797997	0.0616007159494715	0.15236	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.58	0.683	0.17162	1.196000	0.31807	0.257000	0.16498	-2.805000	0.00184	0.210000	0.24424	0.001000	0.17328	0.002000	0.04165	0.0:0.1681:0.0:0.8319	9.597	0.38745	783	0.47268	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2806.98	129	chr1	159440212	.	C	T	2806.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.17;DP=1544;ExcessHet=0.0000;FS=1.076;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.56;ReadPosRankSum=-2.149e+00;SOR=0.805	GT:AD:DP:GQ:PL	0/1:110,97:207:99:2821,0,2891	20	0	1	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	0/1:155,52:221:99:339,0,3059	5	0	16	0
chr1	161124409	161124409	C	G	exonic	DEDD	.	nonsynonymous SNV	DEDD:NM_001039711:exon2:c.G54C:p.E18D	.	.	419	1101	2	0	0	2	0.000907441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.0	B	0.001	B	0.000	D	1.000	N	-1.39	N	.	.	-0.944	T	0.007	T	0.102	0.168	4.904	2.2	0.756	0.574	4.866	0.168	0.00576375650122	.	0.000599042	0.0003	0	0	0	0	0	0	0.0022	0.0002458	38	154602	rs551657580	0.0001	0.0001	5.449e-05	0.0002	0.0018	9.884e-05	9.293e-05	0.0016	0.0015	2.988e-05	0	0	0	0	0	0	9.946e-05	0.0018	9.189e-05	9.186e-05	3.853e-05	0.0001	0.0029	5.522e-05	4.36e-05	0.0018	0.0014	0	0	0	0	0	0	0	0	0	0.0029	0.499	0.07870	T	0.575	0.09267	T	0.0	0.02946	B	0.0	0.04355	B	0.000000	0.84330	D	0.046195	0.752883	0.81001	N	-1.01	0.01154	N	.	.	.	-0.33	0.16187	N	0.118	0.11912	-0.9444	0.41911	T	0.007	0.02598	T	9	0.0052165687	0.00113	T	0.005764	0.14952	T	0.168	0.42943	0.073	0.00466	0.456980322645	0.45321	0.13628228835923714	0.13552	0.716779075615	0.62015	0.548488736153	0.45645	T	0.093235	0.39170	T	-0.591251	0.00165	T	-0.628234	0.10550	T	0.0405337411745459	0.03787	T	0.782222	0.41780	T	0.05425778	0.10385	0.058419317	0.10790	0.05425778	0.10385	0.058419317	0.10790	-3.289	0.13596	T	.	.	0.072	0.19518	B	.;.;.;.;.;.	.;.;.;.;.;.	1.961478	0.24913	16.57	0.92474154875596348	0.21904	0.83014	0.42169	D	AEFDBCI	0.302362	0.41063	N	-0.908595912057514	0.10640	0.5094226	-0.686129877944826	0.17308	0.9196992	0.998803155963326	0.37711	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.13	2.2	0.26966	0.246000	0.17935	-0.190000	0.11047	-0.187000	0.09635	0.992000	0.37556	0.265000	0.24010	0.978000	0.57271	0.0:0.5818:0.1564:0.2618	4.866	0.12967	281	0.88893	.;.;.;.;.;.	.	.	.	.	.	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	2381.98	49	chr1	161124409	.	C	G	2381.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.854e+00;DP=867;ExcessHet=0.0000;FS=1.466;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.21;ReadPosRankSum=-1.500e-02;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,62:124:99:0|1:161124400_A_G:2396,0,2393:161124400	20	0	1	0
chr1	173873492	173873492	C	A	exonic	ZBTB37	.	nonsynonymous SNV	ZBTB37:NM_001122770:exon4:c.C949A:p.P317T	.	.	427	1090	5	0	0	5	0.00228833	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.0	B	0.0	B	0.006	N	1.000	N	0	N	2.61	T	-1.036	T	0.054	T	0.028	-0.009	3.969	2.68	0.778	1.661	2.610	0.063	.	0.0073	0.00199681	0.0056	0.0015	0.0043	0	0.0029	0.0083	0.0066	0.0022	0.0058214	900	154602	rs143211330	0.0079	0.0079	0.0079	0.0078	0.0090	0.0077	0.0077	0.0089	0.0088	0.0013	0.0054	0.0118	0	0.0033	0.0049	0.0090	0.0077	0.0024	0.0061	0.0061	0.0066	0.0056	0.0095	0.0058	0.0057	0.0088	0.0086	0.0019	0.0428	0.0060	0.0092	0.0002	0.0028	0.0034	0.0095	0.0071	0.0012	0.948	0.02156	T	0.447	0.13066	T	0.0	0.02946	B	0.0	0.01387	B	0.006386	0.32067	N	0.366105	1	0.81001	D	0	0.06538	N	2.61	0.73417	T	-0.13	0.08971	N	0.181	0.22998	-1.0365	0.18388	T	0.054	0.23034	T	10	0.0036935508	0.00068	T	.	.	.	0.063	0.18251	.	.	0.287411543184	0.28351	0.402335286515874	0.40149	0.367174557742	0.38278	0.302199393511	0.10730	T	0.009073	0.08280	T	-0.566021	0.00234	T	-0.576431	0.14865	T	0.00819524164983656	0.00098	T	0.809419	0.45992	T	0.038505286	0.05144	0.04298779	0.05245	0.038505286	0.05143	0.04298779	0.05244	-3.042	0.12141	T	.	.	0.093	0.14108	B	.;.;.	.;.;.	1.444469	0.18645	13.85	0.7330960418591258	0.10281	0.76405	0.37469	D	AEFDBI	0.102015	0.20476	N	-0.461328258118561	0.23358	1.253752	-0.245513426869649	0.29926	1.680645	0.971939690587828	0.29328	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.9	2.68	0.30839	1.706000	0.37497	0.565000	0.19549	0.599000	0.40250	0.994000	0.38300	0.997000	0.33255	0.998000	0.85391	0.334:0.3351:0.2424:0.0885	2.610	0.04591	147	0.94143	.;.;.	.	.	.	.	.	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	1067.98	35	chr1	173873492	.	C	A	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.342e+00;DP=777;ExcessHet=0.0000;FS=1.017;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.95;ReadPosRankSum=1.71;SOR=0.559	GT:AD:DP:GQ:PL	0/1:20,43:63:99:1082,0,440	20	0	1	0
chr1	174394126	174394126	A	T	exonic	RABGAP1L	.	nonsynonymous SNV	RABGAP1L:NM_001366449:exon6:c.A632T:p.Y211F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	1.0	D	1.0	D	0.000	D	1.000	D	1.865	L	-0.6	T	-0.071	T	0.478	T	0.6	4.779	26.9	5.14	1.941	8.826	14.946	0.668	0.105449098092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.0	0.92824	D	0.998	0.90584	D	0.994	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	1.835	0.48228	L	-0.6	0.71662	T	-3.26	0.66665	D	0.692	0.73826	-0.0709	0.80760	T	0.478	0.79996	T	10	0.93682855	0.93012	D	0.105449	0.78056	D	0.668	0.87674	0.84	0.94602	0.713984128956	0.71147	0.6002426786777262	0.59955	0.862999872533	0.69047	0.731670439243	0.71750	T	0.222932	0.58693	T	0.0887202	0.63044	D	-0.110336	0.62584	T	0.961689293384552	0.66152	D	0.957904	0.92312	D	0.59980077	0.72681	0.27730674	0.53682	0.59980077	0.72682	0.27730674	0.53681	-4.036	0.42674	T	.	.	0.641	0.70572	P	.;.;.;.	.;.;.;.	4.766850	0.77121	26.6	0.98579426752843446	0.43219	0.98751	0.86386	D	AEFBI	0.902770	0.85105	D	0.721997497439311	0.81075	7.437914	0.704922944456869	0.82752	7.845682	0.999968946608237	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.14	5.14	0.70008	8.836000	0.91725	9.310000	0.79951	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	1.0:0.0:0.0:0.0	14.946	0.70685	210	0.91826	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;Rab-GTPase-TBC 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	826.98	35	chr1	174394126	.	A	T	826.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.00;DP=751;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.78;ReadPosRankSum=-6.450e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:32,28:60:99:841,0,898	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	0|1:29,40,0:69:99:1|0:175160788_C_CCTT:1235,0,938,1323,1058,2380:175160788	2	5	6	0
chr1	183553061	183553061	G	T	exonic	SMG7	.	nonsynonymous SNV	SMG7:NM_201569:exon23:c.G3397T:p.G1133W,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.876	P	0.237	B	0.062	N	1.000	N	0	N	2.08	T	-1.039	T	0.030	T	0.287	0.488	6.650	3.77	2.178	2.254	7.714	0.073	0.0161515713187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445e-06	2.736e-06	1.427e-06	1.464e-06	1.262e-05	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	1.726e-05	1.262e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	.	.	.	.	.	.	0.062355	0.02154	N	2.593550	1	0.08975	N	.	.	.	2.08	0.20255	T	-0.08	0.08187	N	0.38	0.42149	-1.0391	0.17587	T	0.030	0.13067	T	10	0.19296825	0.35047	T	0.016152	0.37263	T	0.073	0.21317	0.276	0.22845	0.117191471859	0.11215	0.02494300650821843	0.02445	0.158314735525	0.17880	0.314752131701	0.12625	T	.	.	.	-0.162522	0.26374	T	-0.471228	0.25383	T	0.905675649642944	0.55948	D	0.344866	0.07558	T	.	.	.	.	.	.	.	.	-4.901	0.35746	T	.	.	0.219	0.44885	B	.	.	1.163753	0.15528	11.92	0.98567413912056245	0.43063	0.59375	0.30898	D	AEFDBCI	0.211599	0.33737	N	-0.176977417997289	0.34094	1.941998	-0.175400275845768	0.32444	1.84586	0.560183876900668	0.21407	0.722319	0.85440	0	0.702456	0.74545	0	0.697927	0.64325	0	0.735409	0.98432	0	.	.	4.75	3.77	0.42499	2.480000	0.44865	4.678000	0.44308	0.676000	0.76740	0.987000	0.36337	1.000000	0.68203	0.120000	0.19168	0.0:0.2796:0.5654:0.155	7.714	0.27860	702	0.57624	.	.	.	.	.	.	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	1737.98	34	chr1	183553061	.	G	T	1737.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.830e-01;DP=828;ExcessHet=0.0000;FS=1.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=0.081;SOR=0.520	GT:AD:DP:GQ:PL	0/1:51,68:119:99:1752,0,1192	20	0	1	0
chr1	183647724	183647724	C	G	exonic	APOBEC4	.	nonsynonymous SNV	APOBEC4:NM_203454:exon2:c.G1058C:p.S353T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.455	P	0.1	B	0.320	N	1.000	N	0.46	N	2.71	T	-0.976	T	0.016	T	0.031	-1.777	0.010	1.16	0.209	1.202	9.466	0.051	0.00588775622545	.	0.000399361	0.0002	0	0	0	0	1.503e-05	0	0.0011	0.0001358	21	154602	rs200661894	8.784e-05	8.756e-05	7.501e-05	0.0001	0.0006	7.511e-05	7.057e-05	0.0005	0.0004	2.999e-05	0	0	0	0	0	6.135e-05	0.0001	0.0006	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0004	1.26e-05	7.98e-06	7.293e-05	3.03e-05	0	0	0	0	0	0	0	4.409e-05	0	0.0004	0.776	0.03326	T	0.817	0.03863	T	0.455	0.36245	P	0.1	0.30674	B	0.320243	0.14283	N	0.620429	1	0.08975	N	2.045	0.56016	M	2.71	0.12055	T	-0.62	0.18248	N	0.157	0.16308	-0.9755	0.36015	T	0.016	0.06473	T	10	0.013457894	0.00285	T	0.005888	0.15340	T	0.051	0.14325	0.089	0.00982	0.17948927462	0.17512	0.08695108277925806	0.08629	0.10765007991	0.12148	0.281306445599	0.07675	T	0.003042	0.02443	T	-0.647314	0.00075	T	-0.784382	0.02324	T	0.0330791527988093	0.02485	T	0.357364	0.08134	T	0.058304437	0.11712	0.056868237	0.10236	0.058304437	0.11712	0.056868237	0.10236	-3.975	0.23428	T	.	.	0.085	0.10014	B	.	.	0.587207	0.09555	6.332	0.54058742567128593	0.05062	0.29397	0.23811	N	AEFDBI	0.072390	0.14445	N	-0.901986661304297	0.10796	0.5176716	-0.93141332961804	0.11354	0.5779466	0.3802333333029	0.19954	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.15	1.16	0.19936	1.314000	0.33202	0.332000	0.17294	0.599000	0.40250	0.022000	0.19841	0.000000	0.08366	0.021000	0.11733	0.0:0.7005:0.0:0.2995	9.466	0.37975	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	1	0	0	0	0.02381	1490.98	34	chr1	183647724	.	C	G	1490.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.745;DP=865;ExcessHet=0.0000;FS=0.684;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.74;ReadPosRankSum=1.64;SOR=0.621	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1505,0,1714	20	0	1	0
chr1	197101048	197101048	A	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.T8203G:p.F2735V,	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	YES	0	1520	2	0	0	2	0.000657462	.	.	167737	ASPM-related_disorder|Microcephaly_5,_primary,_autosomal_recessive|not_provided	.|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.1	T	0.977	D	0.87	P	0.041	N	0.999	N	2.84	M	-0.55	T	-0.505	T	0.462	T	0.442	2.559	14.52	2.77	0.478	2.084	6.107	0.303	.	7.7e-05	0.00559105	0.0020	0	0.0002	0	0	0	0	0.0145	0.0018046	279	154602	rs372416792	0.0008	0.0008	0.0005	0.0012	0.0130	0.0008	0.0008	0.0124	0.0121	3.006e-05	6.756e-05	0	0	0	0.0003	2.7e-06	0.0012	0.0130	0.0005	0.0005	0.0003	0.0006	0.0145	0.0004	0.0004	0.0118	0.0108	4.817e-05	0	0	0	0	0	0	0	0	0.0145	0.006	0.61437	D	0.038	0.51421	D	0.973	0.57599	D	0.87	0.61806	P	0.041163	0.23978	N	0.400687	1	0.21619	N	2.895	0.83812	M	-0.55	0.71068	T	-3.22	0.64939	D	0.188	0.20528	-0.5051	0.68464	T	0.462	0.79168	T	10	0.009033561	0.00204	T	.	.	.	0.303	0.62400	.	.	0.673305021989	0.67053	0.0198826608712278	0.01941	.	.	0.294791817665	0.09627	T	0.355614	0.72259	T	-0.313263	0.07464	T	-0.211081	0.53591	T	0.0904703142660573	0.11274	T	0.780422	0.41514	T	0.19454367	0.41208	0.18985574	0.42355	0.19454367	0.41207	0.18985574	0.42354	-10.368	0.76085	D	.	.	0.138	0.30184	B	.	.	1.539156	0.19741	14.41	0.92047509279450745	0.21390	0.31518	0.24357	N	AEFBI	0.172406	0.29944	N	-0.123788452503402	0.36359	2.100528	-0.382745817838522	0.25511	1.403407	0.973618306099741	0.29471	0.706298	0.61202	0	0.709663	0.81188	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.95	2.77	0.31614	2.308000	0.43350	-0.683000	0.07876	0.756000	0.94297	0.005000	0.17040	0.000000	0.08366	0.384000	0.26424	0.6683:0.1693:0.0:0.1624	6.107	0.19303	179	0.93046	.	.	.	.	.	.	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	2044.98	34	chr1	197101048	.	A	C	2044.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.327e+00;DP=849;ExcessHet=0.0000;FS=11.422;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=1.56;SOR=0.943	GT:AD:DP:GQ:PL	0/1:74,75:149:99:2059,0,2223	20	0	1	0
chr1	197104066	197104066	G	A	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_018136:exon18:c.C5185T:p.R1729W,	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	4	1426	86	6	0	98	0.0332203	.	.	101785	not_provided|not_specified|Microcephaly_5,_primary,_autosomal_recessive|ASPM-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.999	D	0.978	D	0.039	N	1.000	D	3.065	M	1.53	T	-0.574	T	0.193	T	0.273	3.364	17.34	5.98	2.843	2.434	16.062	0.279	.	0.0094	0.00539137	0.0096	0.0018	0.0087	0.0006	0.0018	0.0124	0.0177	0.0113	0.0092366	1428	154602	rs41299623	0.0098	0.0098	0.0095	0.0101	0.0224	0.0097	0.0096	0.0192	0.0181	0.0013	0.0109	0.0190	0.0005	0.0027	0.0224	0.0102	0.0102	0.0125	0.0083	0.0083	0.0084	0.0082	0.0148	0.0079	0.0077	0.0132	0.0126	0.0016	0.0022	0.0148	0.0165	0.0002	0.0024	0.0204	0.0117	0.0171	0.0091	0.001	0.78490	D	0.001	0.83351	D	0.999	0.77913	D	0.978	0.74104	D	0.039326	0.24182	N	0.428411	1	0.81001	D	3.72	0.94773	H	1.53	0.30401	T	-3.96	0.73579	D	0.393	0.43417	-0.5736	0.65871	T	0.193	0.54652	T	10	0.004125327	0.00081	T	.	.	.	0.279	0.59619	.	.	0.3349148499	0.33108	0.08892445824681566	0.08825	.	.	0.236045047641	0.02445	T	0.339384	0.70854	T	-0.425924	0.01569	T	-0.37291	0.36548	T	0.0830932680580513	0.10378	T	0.905509	0.66687	D	0.4028834	0.60932	0.50360066	0.71306	0.4028834	0.60932	0.50360066	0.71306	-8.839	0.66655	D	0.566896680356971	0.63430	0.140	0.30608	B	.	.	4.136525	0.61946	24.4	0.99919287988164351	0.98654	0.85522	0.44663	D	AEFBCI	0.422085	0.48823	N	0.632367860663397	0.75231	6.269803	0.526582881682223	0.69785	5.410109	0.991712705357451	0.32584	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.98	5.98	0.97147	2.847000	0.47970	1.577000	0.27452	0.618000	0.50648	0.647000	0.28146	0.003000	0.18671	0.988000	0.63387	0.0:0.0:0.858:0.142	16.062	0.80647	177	0.93145	IQ motif, EF-hand binding site|IQ motif, EF-hand binding site|IQ motif, EF-hand binding site	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	2939.98	100	chr1	197104066	.	G	A	2939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1633;ExcessHet=0.0000;FS=6.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.70;ReadPosRankSum=-8.400e-01;SOR=1.146	GT:AD:DP:GQ:PL	0/1:96,104:200:99:2954,0,2449	20	0	1	0
chr1	197143319	197143319	G	C	exonic	ASPM	.	nonsynonymous SNV	ASPM:NM_001206846:exon3:c.C933G:p.S311R	Microcephaly 5, primary, autosomal recessive, Autosomal recessive	.	0	1501	21	0	0	21	0.00694674	.	.	206754	Microcephaly_5,_primary,_autosomal_recessive|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0012106,MedGen:C1837501,OMIM:608716,Orphanet:2512|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.06	T	0.196	B	0.055	B	0.392	N	1.000	N	1.895	L	1.52	T	-0.919	T	0.154	T	0.341	1.433	10.73	1.65	0.638	0.701	5.120	0.029	0.0171683685263	.	0.000599042	0.0008	0	0	0	0	0.0003	0.0022	0.0042	0.0006145	95	154602	rs563858170	0.0004	0.0004	0.0003	0.0006	0.0051	0.0004	0.0004	0.0047	0.0046	0	2.236e-05	0	0	0	0.0029	0.0001	0.0008	0.0051	0.0002	0.0002	0.0001	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.406e-05	0	6.538e-05	0	0	0	0	0.0002	0	0.0044	0.005	0.63226	D	0.014	0.63109	D	0.196	0.29532	B	0.036	0.22909	B	0.391828	0.13244	N	0.731127	1	0.08975	N	1.83	0.48079	L	0.3	0.58755	T	-1.29	0.32791	N	0.222	0.26475	-0.9186	0.45743	T	0.154	0.48360	T	10	0.0045710206	0.00095	T	0.017168	0.38759	T	0.029	0.06676	0.191	0.10171	0.43656330218	0.43278	0.3086480884578543	0.30777	.	.	0.340711534023	0.16545	T	0.060068	0.31287	T	-0.408179	0.02044	T	-0.358831	0.38188	T	0.0191107464688734	0.00619	T	0.885811	0.61875	D	0.101184465	0.23898	0.1190928	0.28747	0.0968517	0.22820	0.08680904	0.20136	-5.32	0.40140	T	0.5299856242699648	0.60099	0.290	0.59114	B	.;.	.;.	1.870761	0.23763	16.14	0.98964838799415278	0.49403	0.62908	0.31925	D	AEFDGBIJ	0.115250	0.22668	N	-0.339159947051418	0.27672	1.520157	-0.310895020964569	0.27745	1.541806	0.999985674901629	0.51787	0.608746	0.35421	0	0.627608	0.54475	0	0.486962	0.07600	0	0.677038	0.66255	0	.	.	5.49	1.65	0.23015	0.630000	0.24244	3.447000	0.38420	0.665000	0.62972	0.902000	0.31475	1.000000	0.68203	0.808000	0.38083	0.2309:0.0:0.6095:0.1596	5.120	0.14189	214	0.91692	.;.	.	.	.	.	.	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	2153.98	34	chr1	197143319	.	G	C	2153.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.222;DP=868;ExcessHet=0.0000;FS=1.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=0.145;SOR=0.774	GT:AD:DP:GQ:PL	0/1:81,80:161:99:2168,0,2170	20	0	1	0
chr1	201114837	201114837	G	T	exonic	ASCL5	.	nonsynonymous SNV	ASCL5:NM_001270601:exon1:c.C536A:p.A179E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163617490137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.858e-06	1.368e-06	3.521e-06	0	2.179e-06	3.1e-07	1.2e-07	3.6e-07	1.4e-07	0	0	0	0	0	0	2.179e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.49390	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-4.44	0.97515	D	.	.	.	0.049	0.02088	.	.	.	.	.	.	.	0.12459558	0.23668	T	0.163617	0.84292	D	.	.	.	.	0.753348587105	0.75111	0.15291581135919202	0.15213	.	.	0.697226822376	0.66743	T	.	.	.	-0.0472794	0.44860	T	-0.30569	0.44120	T	.	.	.	0.207379	0.02472	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.11989	B	.;.	.;.	0.533155	0.09019	5.800	0.89459806907674799	0.18815	0.03800	0.09130	N	AEFDBHCI	0.030900	0.03197	N	.	.	.	.	.	.	0.999997209761097	0.74766	0.495885	0.18260	0	0.491552	0.07993	0	0.608004	0.38603	0	0.554799	0.18163	0	.	.	3.95	-4.93	0.02839	-1.663000	0.02070	-0.055000	0.12496	-0.366000	0.05473	0.000000	0.06391	0.000000	0.08366	0.049000	0.15107	0.2198:0.3082:0.1901:0.282	0.500	0.00540	900	0.24599	.;.	.	.	.	.	.	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	416.98	36	chr1	201114837	.	G	T	416.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.244e+00;DP=726;ExcessHet=0.0000;FS=1.339;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.70;ReadPosRankSum=0.559;SOR=1.015	GT:AD:DP:GQ:PL	0/1:26,17:43:99:431,0,749	20	0	1	0
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|1:246,69,0:315:99:0|1:201209837_A_G:1734,0,9963,2474,10170,12644:201209837	0	0	3	14
chr1	201313464	201313464	G	A	exonic	PKP1	.	nonsynonymous SNV	PKP1:NM_000299:exon3:c.G605A:p.R202H	Ectodermal dysplasia/skin fragility syndrome	.	0	1508	14	0	0	14	0.00462046	.	.	278408	Epidermolysis_bullosa_simplex_due_to_plakophilin_deficiency|not_provided	MONDO:MONDO:0011472,MedGen:C1858302,OMIM:604536,Orphanet:158668|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.11	T	0.179	B	0.018	B	0.151	N	0.626	D	1.355	L	-0.81	T	-0.755	T	0.177	T	0.244	2.150	13.15	1.19	0.155	0.663	7.749	0.056	0.0737592663656	0.0018	0.00119808	0.0022	0.0005	0.0011	0	0	0.0036	0.0016	0.0005	0.0018758	290	154602	rs78314242	0.0030	0.0030	0.0030	0.0029	0.0047	0.0029	0.0029	0.0034	0.0034	0.0005	0.0013	0.0048	0	0.0004	0.0047	0.0035	0.0022	0.0005	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0022	0.0078	0	0	0	0.0030	0.0024	0.0006	0.163	0.23997	T	0.103	0.38305	T	0.045	0.28995	B	0.01	0.18489	B	0.151281	0.17960	N	0.519112	0.625857	0.32746	D	0.895	0.22405	L	-0.92	0.75108	T	-1.61	0.38734	N	0.34	0.38129	-0.7552	0.57662	T	0.177	0.52193	T	10	0.0055202544	0.00122	T	0.073759	0.71871	D	0.056	0.15993	.	.	0.640407670995	0.63744	0.3678928276403831	0.36703	0.1114848603	0.12590	0.267176926136	0.05775	T	0.072999	0.34592	T	-0.417963	0.01763	T	-0.376202	0.36166	T	0.0093331647258339	0.00119	T	0.761924	0.38711	T	0.037512086	0.04824	0.037671603	0.03469	0.03506509	0.04056	0.034654014	0.02571	-4.927	0.36037	T	0.3265699473747604	0.42471	0.184	0.39915	B	.;.;.	.;.;.	2.449247	0.31538	18.77	0.99192945969314461	0.55024	0.25842	0.22819	N	AEFDBI	0.103636	0.20757	N	-0.591549236136514	0.19200	1.00301	-0.570576286407346	0.20262	1.090831	0.999956616886111	0.48110	0.497415	0.19182	0	0.59043	0.45803	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.13	1.19	0.20120	0.696000	0.25220	0.449000	0.18503	0.618000	0.50648	0.075000	0.22209	0.058000	0.21979	0.986000	0.61781	0.3312:0.0:0.6688:0.0	7.749	0.28051	900	0.24599	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	1	0	0	0	0.02381	1365.98	34	chr1	201313464	.	G	A	1365.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.590e+00;DP=807;ExcessHet=0.0000;FS=2.433;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=1.72;SOR=0.885	GT:AD:DP:GQ:PL	0/1:53,58:111:99:1380,0,1321	20	0	1	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	0/1:30,17:47:99:483,0,777	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	0/1:113,41:154:99:.:.:298,0,2465	10	0	11	0
chr1	205580805	205580805	G	A	exonic	MFSD4A	.	nonsynonymous SNV	MFSD4A:NM_181644:exon3:c.G574A:p.G192S,	.	.	427	1085	10	0	0	10	0.00458716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.011	B	0.011	B	0.534	N	1.000	N	0	N	1.95	T	-0.968	T	0.004	T	0.142	0.762	8.034	1.75	0.663	0.620	7.306	0.024	.	0.0007	0.0211661	0.0118	0.0012	0.0636	0.0247	0	0.0009	0.0077	0.0247	0.0116169	1796	154602	rs146109722	0.0046	0.0046	0.0043	0.0049	0.0643	0.0045	0.0044	0.0623	0.0615	0.0007	0.0643	0.0090	0.0223	0	0.0026	0.0002	0.0072	0.0229	0.0082	0.0083	0.0067	0.0098	0.0538	0.0079	0.0077	0.0508	0.0496	0.0016	0	0.0538	0.0127	0.0254	0	0.0068	0.0005	0.0095	0.0282	0.758	0.03502	T	0.802	0.04431	T	0.002	0.15914	B	0.011	0.15521	B	0.533931	0.11608	N	0.823047	0.999998	0.58761	D	.	.	.	1.94	0.22678	T	0.5	0.02945	N	0.033	0.04188	-0.9678	0.37652	T	0.004	0.01295	T	10	0.001856327	0.00025	T	.	.	.	0.024	0.04979	.	.	.	.	0.43747557879175863	0.43664	0.440170072051	0.44032	0.267308205366	0.05792	T	0.02633	0.43997	T	-0.629407	0.00096	T	-0.629762	0.10433	T	0.00242273152368404	0.00025	T	0.706729	0.31713	T	0.034399476	0.03852	0.051730637	0.08382	0.034399476	0.03852	0.051730637	0.08382	-2.892	0.09064	T	.	.	0.070	0.11027	B	.;.;.;.	.;.;.;.	1.639639	0.20925	14.97	0.89235622399323533	0.18624	0.82127	0.41403	D	AEFDGBI	0.164995	0.29144	N	-0.600478964880561	0.18930	0.9867911	-0.420479511028924	0.24397	1.335719	0.99992813454296	0.46280	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.67	1.75	0.23707	1.005000	0.29436	3.682000	0.39470	0.665000	0.62972	0.991000	0.37257	1.000000	0.68203	0.881000	0.42162	0.3059:0.0:0.6941:0.0	7.306	0.25624	672	0.60758	.;.;.;.	.	.	.	.	.	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	2340.98	35	chr1	205580805	.	G	A	2340.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.829;DP=919;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=0.191;SOR=0.654	GT:AD:DP:GQ:PL	0/1:98,92:190:99:2355,0,2573	20	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	1.0	D	0.998	D	0.000	D	0.999	D	1.795	L	-0.64	T	-0.354	T	0.438	T	0.77	3.715	18.87	4.24	0.943	5.925	12.458	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.125	789.99	105	chr1	212100360	.	A	G	789.99	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-3.330e+00;DP=2216;ExcessHet=1.1607;FS=79.885;InbreedingCoeff=-0.1403;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.42;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,13:119:89:0|1:212100360_A_G:89,0,4005:212100360	15	0	5	1
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|1:106,13:119:89:0|1:212100360_A_G:89,0,4005:212100360	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|1:106,13:119:89:0|1:212100360_A_G:89,0,4005:212100360	14	0	7	0
chr1	214645259	214645259	T	C	exonic	CENPF	.	nonsynonymous SNV	CENPF:NM_016343:exon13:c.T5689C:p.F1897L,	Stromme syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.81	T	0.012	B	0.006	B	0.387	N	0.996	N	0.9	L	1.98	T	-0.979	T	0.033	T	0.095	1.289	10.22	4.32	0.912	3.074	9.207	0.078	0.00980712402638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.14843	T	0.433	0.13595	T	.	.	.	.	.	.	0.387254	0.13306	N	0.622917	0.996025	0.23136	N	.	.	.	1.98	0.21865	T	-1.74	0.41239	N	0.163	0.17140	-0.9785	0.35345	T	0.033	0.14203	T	10	0.07286334	0.10934	T	0.009807	0.25586	T	0.078	0.22779	.	.	0.101711395817	0.09552	0.1427222850839343	0.14195	0.0596198842535	0.06628	0.393260717392	0.24128	T	.	.	.	-0.260978	0.12786	T	-0.612653	0.11770	T	0.274424522710853	0.23935	T	0.527047	0.17380	T	0.08159175	0.18754	0.074692726	0.16368	0.08159175	0.18754	0.074692726	0.16367	-2.043	0.03347	T	.	.	0.785	0.76596	P	.	.	1.885814	0.23953	16.21	0.97445370788974561	0.34002	0.87114	0.46557	D	AEFBCI	0.219672	0.34452	N	-0.641218653764995	0.17716	0.9139967	-0.539133036135939	0.21094	1.139528	0.992379880728038	0.32817	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.45	4.32	0.50899	3.081000	0.49818	1.110000	0.24149	0.644000	0.52426	1.000000	0.71638	0.016000	0.20520	0.957000	0.51019	0.0:0.1458:0.0:0.8542	9.207	0.36459	901	0.24189	.	.	.	.	.	.	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	0.1905	842.74	162	chr1	214645259	.	T	C	842.74	.	AC=8;AF=0.190;AN=42;BaseQRankSum=-4.014e+00;DP=2279;ExcessHet=3.5521;FS=127.609;InbreedingCoeff=-0.2304;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=0.63;ReadPosRankSum=1.21;SOR=11.454	GT:AD:DP:GQ:PL	0/1:112,45:157:99:317,0,2367	13	0	8	0
chr1	220074013	220074013	G	A	exonic	BPNT1	.	nonsynonymous SNV	BPNT1:NM_001286149:exon2:c.C14T:p.S5F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.998	D	0.954	D	0.000	D	1.000	D	1.975	M	0.6	T	-0.423	T	0.324	T	0.434	5.220	33	5.46	2.579	8.461	18.965	0.232	0.0154197554854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.78490	D	0.011	0.66756	D	0.976	0.73220	D	0.656	0.69447	P	0.000211	0.47681	D	0.219548	0.999952	0.52396	D	1.88	0.49984	L	0.6	0.53731	T	-2.97	0.67477	D	0.277	0.45142	-0.4230	0.71293	T	0.324	0.69229	T	10	0.43486527	0.57728	T	0.01542	0.36141	T	0.232	0.53354	0.559	0.67821	0.389750110748	0.38591	0.5169334974436691	0.51616	1.08208159744	0.77162	0.426841616631	0.28777	T	0.301469	0.74289	T	0.0152297	0.53736	T	-0.2159	0.53131	T	0.982898235321045	0.74768	D	0.950605	0.94694	D	0.48621652	0.66276	0.29615304	0.55647	0.48621652	0.66276	0.29615304	0.55646	-6.095	0.52752	T	.	.	0.301	0.53557	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	5.250497	0.88155	29.5	0.99866309272931864	0.94457	0.98053	0.79201	D	AEFBI	0.917709	0.88573	D	0.72359014131207	0.81179	7.461924	0.748747437073254	0.86064	8.771071	0.99999998547948	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.46	5.46	0.80021	9.014000	0.93156	11.727000	0.94923	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.965	0.92670	824	0.40336	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.2188	396.55	55	chr1	220074013	.	G	A	396.55	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-3.491e+00;DP=1720;ExcessHet=2.5830;FS=279.111;InbreedingCoeff=-0.3038;MLEAC=9;MLEAF=0.281;MQ=60.00;MQRankSum=0.00;QD=0.59;ReadPosRankSum=0.665;SOR=11.761	GT:AD:DP:GQ:PL	0/1:77,32:121:30:30,0,1255	9	0	7	5
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	0/1:59,26,0:85:98:98,0,874,260,942,1203	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	0/1:59,26,0:85:98:98,0,874,260,942,1203	3	0	12	4
chr1	228158333	228158333	C	G	exonic	GJC2	.	nonsynonymous SNV	GJC2:NM_020435:exon2:c.C575G:p.P192R,	Leukodystrophy, hypomyelinating, 2, Autosomal recessive;Lymphedema, hereditary, IC, Autosomal dominant;Spastic paraplegia 44, autosomal recessive, Autosomal recessive	.	0	1520	2	0	0	2	0.000657462	.	.	421214	Spastic_paraplegia|GJC2-related_disorder|not_provided	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:CN230087|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.13	T	0.049	B	0.01	B	0.000	N	1.000	N	1.01	L	-4.69	D	0.132	D	0.796	D	0.17	0.801	8.213	-3.98	-0.601	0.006	2.434	0.208	0.71961869104	0.0010	.	0.0034	0.0006	0.0013	0	0	0.0066	0	0.0010	0.0009379	145	154602	rs375318012	0.0015	0.0015	0.0015	0.0015	0.0018	0.0015	0.0014	0.0017	0.0017	0.0002	0.0001	3.936e-05	0	0.0002	0.0002	0.0018	0.0011	0.0011	0.0011	0.0011	0.0012	0.0010	0.0020	0.0010	0.0009	0.0017	0.0016	0.0004	0	0.0004	0.0003	0	0.0003	0	0.0020	0	0.0006	0.092	0.31682	T	0.244	0.24123	T	0.049	0.22227	B	0.01	0.14941	B	0.000003	0.00162	N	7739.210000	1	0.08975	N	1.735	0.44892	L	-4.69	0.98005	D	-0.58	0.17417	N	0.197	0.21710	0.132	0.84736	D	0.796	0.93093	D	10	0.01837939	0.00399	T	0.719619	0.97730	D	0.208	0.49714	.	.	0.516050471323	0.51246	0.2943064787236278	0.29343	.	.	0.77952080965	0.78855	T	0.418878	0.77108	T	-0.312536	0.07527	T	-0.226951	0.52065	T	0.0233854297548532	0.01069	T	0.330167	0.06908	T	0.061174344	0.12637	0.061516296	0.11892	0.061174344	0.12636	0.061516296	0.11891	-3.597	0.17813	T	0.11248283493045236	0.09737	0.068	0.02702	B	.	.	0.336096	0.07097	3.672	0.92055693168278452	0.21399	0.12118	0.17071	N	AEFBI	0.049222	0.08481	N	-1.2856089161511	0.03847	0.1726307	-1.3851474616222	0.03409	0.1589787	0.985551897002576	0.30907	0.582742	0.33608	0	0.588066	0.40923	0	0.61531	0.40942	0	0.604944	0.38103	0	.	.	3.99	-3.98	0.03810	-0.479000	0.06647	0.084000	0.14428	-0.404000	0.05286	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.1416:0.2513:0.4183:0.1888	2.434	0.04206	548	0.72362	Connexin, 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	1031.98	33	chr1	228158333	.	C	G	1031.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.717e+00;DP=846;ExcessHet=0.0000;FS=6.614;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-3.270e-01;SOR=1.519	GT:AD:DP:GQ:PL	0/1:43,41:84:99:1046,0,1198	20	0	1	0
chr1	228317999	228317999	G	A	exonic	OBSCN	.	nonsynonymous SNV	OBSCN:NM_001098623:exon53:c.G13957A:p.E4653K	.	.	.	.	.	.	.	.	.	.	.	3363024	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.021	B	0.021	B	0.002	N	1.000	N	1.845	L	-0.28	T	-0.912	T	0.222	T	0.35	1.899	12.31	3.6	1.144	1.767	12.065	0.161	0.0335860904972	7.8e-05	.	6.626e-05	0	0	0	0	8.995e-05	0	0.0001	5.17e-05	8	154602	rs199515361	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0001	1.52e-05	1.324e-05	7.124e-05	5.482e-05	0	0	0	0	0	0	1.709e-05	1.656e-05	0.0001	2.628e-05	2.626e-05	2.569e-05	2.69e-05	0.0004	8.14e-06	5.14e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0004	0.102	0.30235	T	0.013	0.76473	D	0.017	0.18474	B	0.012	0.19346	B	0.002436	0.36574	N	0.124637	0.999997	0.08975	N	1.785	0.46417	L	-0.28	0.67543	T	-1.81	0.42575	N	0.292	0.36989	-0.9123	0.46569	T	0.222	0.58550	T	10	0.16915444	0.31507	T	0.033586	0.55087	D	0.161	0.41658	.	.	0.679282971961	0.67655	0.5481615214547346	0.54742	0.483180356244	0.47271	0.497045695782	0.38416	T	0.044023	0.26686	T	-0.18932	0.22358	T	-0.328194	0.41669	T	0.0910744864825385	0.11345	T	0.886111	0.61235	D	0.22574688	0.45242	0.20446156	0.44571	0.22574688	0.45242	0.20446156	0.44570	-6.414	0.52013	T	.	.	0.418	0.60587	A	.;.;.;.;.	.;.;.;.;.	2.159094	0.27505	17.49	0.77496913199010731	0.11900	0.58205	0.30579	D	AEFDBI	0.114605	0.22566	N	-0.547152860691065	0.20573	1.08552	-0.530957993214213	0.21314	1.152458	0.173318407149807	0.17767	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.51	3.6	0.40374	0.762000	0.26168	3.729000	0.39612	0.616000	0.49467	0.029000	0.20367	1.000000	0.68203	0.017000	0.10941	0.0852:0.0:0.9148:0.0	12.065	0.52881	443	0.79878	.;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	.	.	.	.	.	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	1139.98	36	chr1	228317999	.	G	A	1139.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.434;DP=1046;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.62;ReadPosRankSum=0.231;SOR=0.665	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1154,0,908	20	0	1	0
chr1	234398495	234398495	A	G	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon26:c.T4130C:p.I1377T,	.	.	434	1077	11	0	0	11	0.00508083	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.116	B	0.036	B	0.002	N	1.000	N	1.87	L	3.4	T	-0.964	T	0.018	T	0.086	1.187	9.825	4.72	1.034	3.562	9.088	0.119	0.00428299668018	7.7e-05	0.000599042	0.0003	0	0	0	0	0.0003	0.0011	0.0006	0.0002393	37	154602	rs138599154	0.0002	0.0002	0.0001	0.0002	0.0023	0.0001	0.0001	0.0013	0.0011	5.981e-05	0.0001	0.0023	2.524e-05	0	0.0023	7.93e-05	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.655e-05	7.248e-05	0.0002	8.375e-05	7.214e-05	0	6.533e-05	0.0003	0.0006	0	0	0.0001	0.0005	0.0002	0.154	0.24277	T	0.201	0.27503	T	0.116	0.26475	B	0.036	0.22909	B	0.002224	0.36970	N	0.271381	1	0.08975	N	1.39	0.34934	L	3.4	0.05642	T	-0.39	0.13611	N	0.084	0.06059	-0.9643	0.38350	T	0.018	0.07282	T	10	0.010417283	0.00232	T	0.004283	0.10373	T	0.119	0.33137	.	.	0.112648838833	0.10856	0.342553738638931	0.34168	0.0460589994829	0.05005	0.352499783039	0.18289	T	0.010785	0.09704	T	-0.555261	0.00271	T	-0.655875	0.08548	T	0.0275808968812889	0.01628	T	0.747925	0.36851	T	0.048386093	0.08426	0.045727223	0.06218	0.048386093	0.08425	0.045727223	0.06217	-3.179	0.12226	T	.	.	0.065	0.02012	B	.	.	1.996617	0.25370	16.74	0.9079720496356436	0.20046	0.65849	0.32876	D	AEFBI	0.084863	0.17202	N	-0.343161810233035	0.27524	1.510799	-0.252375151000784	0.29689	1.66541	0.999992166360724	0.74766	0.732398	0.92422	0	0.685571	0.66316	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.85	4.72	0.59248	2.947000	0.48750	6.029000	0.52897	0.750000	0.87069	0.669000	0.28339	0.722000	0.26360	0.993000	0.69303	0.859:0.0:0.141:0.0	9.088	0.35751	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	0.04762	1496.11	35	chr1	234398495	.	A	G	1496.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.096;DP=812;ExcessHet=0.1072;FS=0.614;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=1.54;SOR=0.598	GT:AD:DP:GQ:PL	0/1:40,38:78:99:805,0,855	19	0	2	0
chr1	234467516	234467516	G	A	exonic	TARBP1	.	nonsynonymous SNV	TARBP1:NM_005646:exon4:c.C1234T:p.P412S,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.966	D	0.598	P	0.195	N	0.951	N	1.78	L	3.36	T	-1.046	T	0.024	T	0.069	2.074	12.89	2.07	0.365	1.249	6.977	0.066	0.00496968607489	.	.	8.533e-06	0	0	0	0	1.521e-05	0	0	6.5e-06	1	154602	rs778901436	3.479e-06	3.42e-06	2.767e-06	4.198e-06	2.582e-05	1.02e-06	7.4e-07	8.5e-07	5.7e-07	0	2.582e-05	0	0	0	0	3.624e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.096	0.39340	T	0.966	0.56202	D	0.598	0.50679	P	0.194979	0.16748	N	0.624419	0.951061	0.26484	N	2.015	0.55033	M	3.36	0.05918	T	-1.86	0.43524	N	0.068	0.04072	-1.0456	0.15650	T	0.024	0.10284	T	10	0.0977833	0.17634	T	0.00497	0.12535	T	0.066	0.19193	0.477	0.55502	0.156986980423	0.15292	0.11072395071809472	0.11001	0.0420425285974	0.04528	0.265139579773	0.05519	T	0.021763	0.16890	T	-0.384241	0.02928	T	-0.679653	0.07004	T	0.212670280196197	0.21092	T	0.748325	0.36895	T	0.036911704	0.04632	0.050774954	0.08039	0.036911704	0.04631	0.050774954	0.08038	-2.182	0.03954	T	.	.	0.089	0.12037	B	.	.	2.094137	0.26643	17.19	0.98751063589490662	0.45663	0.44056	0.27234	N	AEFBI	0.083960	0.17012	N	-0.163574483008618	0.34658	1.98095	-0.229118242971755	0.30497	1.717679	0.00929920789631073	0.11830	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.07	2.07	0.26004	1.267000	0.32653	1.647000	0.27824	-0.166000	0.11466	0.450000	0.26566	0.092000	0.22550	0.982000	0.59238	0.0693:0.1265:0.6728:0.1314	6.977	0.23861	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	1527.98	33	chr1	234467516	.	G	A	1527.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.739;DP=817;ExcessHet=0.0000;FS=5.887;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=-1.050e-01;SOR=1.255	GT:AD:DP:GQ:PL	0/1:54,60:114:99:1542,0,1361	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|1:42,31,0:73:99:0|1:240207634_G_C:1121,0,1663,719,1787,2599:240207634	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|1:42,31,0:73:99:0|1:240207634_G_C:1121,0,1664,725,1795,2646:240207634	10	1	8	0
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	0/1:10,17,0:27:99:.:.:460,0,206,490,257,747	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	0|1:24,7,0,0:31:99:0|1:240207812_G_T:182,0,870,254,890,1145,254,890,1145,1145:240207812	6	1	7	3
chr1	246850274	246850274	A	G	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon33:c.T5732C:p.L1911S	.	.	432	1087	2	1	0	4	0.00183655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.383	B	0.095	B	0.900	N	1.000	N	1.995	M	1.39	T	-1.011	T	0.076	T	0.234	0.590	7.181	0.671	0.104	0.896	9.081	0.065	0.0137530053531	7.7e-05	0.000599042	0.0009	0	0.0010	0	0	0.0008	0	0.0025	0.0007568	117	154602	rs184863324	0.0005	0.0005	0.0004	0.0006	0.0066	0.0004	0.0004	0.0049	0.0044	0.0001	0.0011	0.0013	0	0	0.0066	0.0003	0.0006	0.0023	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0006	0.0004	0.0001	0	0.0009	0.0012	0	0	0.0068	0.0006	0.0014	0.0008	0.074	0.34621	T	0.028	0.54934	D	0.112	0.26290	B	0.029	0.21540	B	0.900215	0.08625	N	0.951147	1	0.08975	N	1.97	0.53315	M	1.38	0.34050	T	-1.23	0.31170	N	0.288	0.32591	-1.0107	0.26698	T	0.076	0.30366	T	10	0.0046342313	0.00097	T	0.013753	0.33388	T	0.065	0.18881	.	.	0.23798241625	0.23396	0.2571331824009595	0.25627	0.358014662465	0.37514	0.275121033192	0.06822	T	0.140199	0.47462	T	-0.506319	0.00527	T	-0.505617	0.21765	T	0.0248030437385548	0.01247	T	0.49905	0.15565	T	0.11379467	0.26871	0.050260846	0.07854	0.11379467	0.26870	0.050260846	0.07853	-2.85	0.08653	T	.	.	0.108	0.20625	B	.;.;.	.;.;.	1.463171	0.18861	13.96	0.95086128041050377	0.26145	0.18594	0.20324	N	AEDGBI	0.070238	0.13934	N	-0.723864384444986	0.15352	0.772952	-0.739061386891325	0.15991	0.8438158	0.987311152581506	0.31235	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.7	0.671	0.17097	0.826000	0.27061	0.873000	0.22330	0.740000	0.86194	0.005000	0.17040	0.000000	0.08366	0.887000	0.42601	0.7297:0.0:0.2703:0.0	9.081	0.35713	824	0.40336	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1856.98	36	chr1	246850274	.	A	G	1856.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=883;ExcessHet=0.0000;FS=7.430;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-1.033e+00;SOR=1.166	GT:AD:DP:GQ:PL	0/1:78,66:144:99:1871,0,2067	20	0	1	0
chr1	246904025	246904025	T	C	exonic	AHCTF1	.	nonsynonymous SNV	AHCTF1:NM_001323342:exon7:c.A890G:p.D297G	.	.	448	1072	2	0	0	2	0.000931966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	1.0	D	0.975	D	0.000	D	1.000	D	0.625	N	1.94	T	-1.091	T	0.077	T	0.866	4.396	23.3	5.37	2.027	7.503	15.367	0.381	0.0265495705468	7.7e-05	0.000599042	0.0009	0	0.0012	0	0	0.0007	0	0.0029	0.0008021	124	154602	rs199635904	0.0005	0.0005	0.0004	0.0006	0.0068	0.0005	0.0004	0.0051	0.0045	0.0001	0.0009	0.0013	0	0	0.0068	0.0003	0.0007	0.0030	0.0005	0.0005	0.0004	0.0005	0.0010	0.0004	0.0003	0.0006	0.0005	0.0001	0	0.0010	0.0012	0	0	0.0068	0.0005	0.0014	0.0010	0.022	0.48642	D	0.017	0.60337	D	0.997	0.90584	D	0.957	0.73362	D	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	0.895	0.22405	L	1.94	0.22678	T	-2.29	0.50992	N	0.873	0.87049	-1.0905	0.05449	T	0.077	0.30889	T	10	0.014127195	0.00298	T	0.02655	0.49448	D	0.381	0.69863	.	.	0.373217324921	0.36936	0.5013343581553568	0.50055	0.982308939305	0.73784	0.664956688881	0.62118	T	0.243691	0.61267	T	-0.162778	0.26334	T	-0.0105862	0.69646	D	0.0681808527643667	0.08394	T	0.940706	0.77799	D	0.41880488	0.62012	0.48441976	0.70154	0.41880488	0.62012	0.48441976	0.70155	-8.325	0.63264	D	.	.	0.287	0.58866	B	.;.;.	.;.;.	5.022920	0.83484	28.1	0.99868667703540004	0.94637	0.98722	0.86019	D	AEFBI	0.861971	0.78015	D	0.499297116760641	0.67048	5.03014	0.544816754093947	0.71037	5.594322	0.999786140440102	0.43007	0.475973	0.10046	0	0.546412	0.12157	0	0.670488	0.60580	0	0.508809	0.08732	0	.	.	5.37	5.37	0.76949	7.481000	0.80171	7.871000	0.71963	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	15.367	0.74250	738	0.53389	.;.;ELYS, beta-propeller 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	660.98	39	chr1	246904025	.	T	C	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.330e-01;DP=808;ExcessHet=0.0000;FS=1.044;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.80;ReadPosRankSum=0.845;SOR=0.473	GT:AD:DP:GQ:PL	0/1:29,27:56:99:675,0,733	20	0	1	0
chr1	247257089	247257089	T	C	exonic	VN1R5	.	unknown	UNKNOWN,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1875.98	85	chr1	247257089	.	T	C	1875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.057;DP=1480;ExcessHet=0.0000;FS=1.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.50;ReadPosRankSum=1.72;SOR=0.851	GT:AD:DP:GQ:PL	0/1:52,69:121:99:1890,0,1322	20	0	1	0
chr1	248361672	248361672	A	0	exonic	OR2T4	.	.	.	.	.	444	759	27	2	290	321	0.0200129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3294.69	34	chr1	248361672	.	A	G,*	3294.69	.	AC=1,14;AF=0.025,0.350;AN=40;BaseQRankSum=-7.600e-01;DP=3320;ExcessHet=0.8717;FS=8.880;InbreedingCoeff=0.0286;MLEAC=1,14;MLEAF=0.025,0.350;MQ=60.00;MQRankSum=0.00;QD=1.30;ReadPosRankSum=0.556;SOR=0.441	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:131:99:1|1:248361635_ATGGGACTCTTCAGACAATCCAAACATCCAATGGCCAATATCACCTGGATGGCCAACCACACTGGATGGTCGGATTTCATCCTGT_A:5927,5927,5927,411,411,0:248361635	8	0	1	1
chr1	248574211	248574211	A	G	exonic	OR2T34	.	nonsynonymous SNV	OR2T34:NM_001001821:exon1:c.T547C:p.F183L,	.	.	419	1074	29	0	0	29	0.0133211	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.995	D	0.956	D	.	.	1.000	N	2.575	M	8.52	T	-0.920	T	0.002	T	0.199	2.944	15.81	2.37	0.964	3.736	9.241	0.104	.	0.0029	0.00219649	0.0056	0.0009	0.0022	0	0.0162	0.0078	0.0022	0.0010	0.0004592	71	154602	rs148006635	0.0056	0.0064	0.0056	0.0057	0.0075	0.0055	0.0055	0.0061	0.0060	0.0007	0.0021	0.0009	2.519e-05	0.0151	0.0075	0.0062	0.0047	0.0009	0.0050	0.0055	0.0048	0.0051	0.0076	0.0047	0.0046	0.0070	0.0068	0.0010	0.0022	0.0018	0.0012	0	0.0126	0.0068	0.0076	0.0053	0.0006	0.001	0.78490	D	0.094	0.39645	T	0.995	0.67487	D	0.956	0.69739	D	.	.	.	.	0.999639	0.20820	N	2.315	0.66250	M	8.52	0.00202	T	-5.93	0.89029	D	0.34	0.38129	-0.9201	0.45540	T	0.002	0.00526	T	9	0.014186472	0.00299	T	.	.	.	0.104	0.29647	0.47	0.54376	0.564560304341	0.56119	0.05930058072727752	0.05870	.	.	0.30463373661	0.11096	T	0.005492	0.04941	T	-0.533322	0.00367	T	-0.534151	0.18873	T	0.074082154476566	0.09213	T	0.778722	0.41238	T	0.521896	0.68368	0.5097713	0.71670	0.521896	0.68369	0.5097713	0.71670	-6.617	0.51183	T	.	.	0.754	0.75239	P	.	.	2.914086	0.38662	20.8	0.99351913127643576	0.60615	0.88468	0.48410	D	AEGI	0.086981	0.17636	N	0.0759686768260617	0.45343	2.79245	-0.15928088697545	0.33053	1.886712	1.57936258024448E-4	0.05650	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.37	2.37	0.28337	3.065000	0.49687	0.065000	0.14184	0.351000	0.19951	0.985000	0.35982	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	9.241	0.36656	982	0.03397	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	1837.98	67	chr1	248574211	.	A	G	1837.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.426e+00;DP=2281;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.31;MQRankSum=3.89;QD=7.82;ReadPosRankSum=1.46;SOR=0.662	GT:AD:DP:GQ:PL	0/1:159,76:235:99:1852,0,4508	20	0	1	0
chr2	1643470	1643470	C	A	exonic	PXDN	.	nonsynonymous SNV	PXDN:NM_012293:exon19:c.G3850T:p.V1284L,	Anterior segment dysgenesis 7, with sclerocornea, Autosomal recessive	.	429	980	106	7	0	120	0.0576923	.	.	250315	Anterior_segment_dysgenesis_7|not_specified|not_provided	MONDO:MONDO:0010015,MedGen:C3151617,OMIM:269400,Orphanet:289499|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.07	T	0.245	B	0.162	B	0.236	N	1.000	D	1.59	L	-0.29	T	-0.655	T	0.220	T	0.754	3.192	16.69	5.27	2.468	3.081	18.907	0.258	.	0.0049	0.013778	0.0118	0.0015	0.0083	0	0.0003	0.0082	0.0211	0.0453	0.0107631	1664	154602	rs147066927	0.0079	0.0079	0.0067	0.0092	0.0569	0.0078	0.0078	0.0518	0.0498	0.0022	0.0078	0.0245	2.519e-05	0.0005	0.0569	0.0051	0.0113	0.0442	0.0061	0.0061	0.0053	0.0069	0.0452	0.0057	0.0056	0.0403	0.0384	0.0011	0	0.0116	0.0199	0	0.0002	0.0408	0.0054	0.0137	0.0452	0.055	0.38407	T	0.078	0.42261	T	0.245	0.31074	B	0.162	0.34839	B	0.235775	0.15821	N	0.585291	0.999947	0.51968	D	1.68	0.43186	L	-0.29	0.67712	T	-2.41	0.52938	N	0.105	0.08925	-0.6554	0.62478	T	0.220	0.58292	T	10	0.009080559	0.00205	T	.	.	.	0.258	0.56959	0.504	0.59770	.	.	0.718440100943886	0.71787	0.559209178422	0.52472	0.590268671513	0.51531	T	0.257772	0.62885	T	-0.215215	0.18652	T	-0.0483367	0.67135	D	0.0161957909221841	0.00394	T	0.833117	0.50161	T	0.2221549	0.44809	0.1884566	0.42137	0.2221549	0.44809	0.1884566	0.42137	-7.21	0.55553	T	0.1606143896662149	0.19607	0.482	0.63745	A	.	.	3.033307	0.40636	21.2	0.99071842500591201	0.51739	0.96374	0.68826	D	AEFDBCI	0.703649	0.65962	D	0.0678464935631092	0.44968	2.76128	0.176129248850277	0.48542	3.068776	0.999999999974522	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.27	5.27	0.73797	4.733000	0.61730	7.418000	0.58694	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.363000	0.25954	0.0:1.0:0.0:0.0	18.907	0.92439	824	0.40336	Peroxidasin, peroxidase 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	0	0	1	0	0.04762	4442.11	37	chr2	1643470	.	C	A	4442.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.178e+00;DP=1097;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=-1.380e-01;SOR=0.674	GT:AD:DP:GQ:PL	0/1:85,82:167:99:1935,0,2193	19	0	2	0
chr2	3274392	3274392	G	A	exonic	EIPR1	.	nonsynonymous SNV	EIPR1:NM_001330530:exon4:c.C287T:p.S96F,	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	1.000	N	.	.	2.4	T	-1.010	T	0.029	T	0.16	-0.083	3.592	-0.193	-0.073	-0.685	4.911	0.017	0.000804489930442	.	0.00199681	0.0020	0.0011	0	0	0	0.0026	0	0.0020	0.0010349	160	154602	rs149393347	0.0057	0.0054	0.0058	0.0055	0.0067	0.0056	0.0055	0.0066	0.0066	0.0008	0.0026	0.0004	0	0.0033	0.0026	0.0067	0.0039	0.0015	0.0035	0.0035	0.0037	0.0034	0.0061	0.0033	0.0032	0.0056	0.0054	0.0013	0.0055	0.0024	0.0003	0	0.0018	0	0.0061	0.0028	0.0008	0.0	0.91255	D	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-0.63	0.18459	N	0.138	0.13626	-1.0101	0.26886	T	0.029	0.12365	T	6	0.0058521032	0.00131	T	8.04E-4	0.00629	T	0.017	0.02790	.	.	0.218845423259	0.21516	0.2897425513369705	0.28887	.	.	.	.	.	.	.	.	-0.603756	0.00138	T	-0.635184	0.10024	T	0.0039816630182131	0.00042	T	0.39816	0.10064	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.26607	B	.	.	-0.202055	0.03081	0.483	0.93754292530502858	0.23697	0.00773	0.03184	N	AEFBHCI	0.036089	0.04752	N	-0.743090307207349	0.14822	0.7416276	-0.989709545804442	0.10016	0.5018049	0.00294932351198018	0.09819	0.554377	0.28877	0	0.601575	0.49859	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	0.941	-0.193	0.12593	-0.454000	0.06845	-0.671000	0.07934	0.492000	0.22399	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.384:0.616:0.0	4.911	0.13177	916	0.20744	.	.	.	.	.	.	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	1176.98	33	chr2	3274392	.	G	A	1176.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.89;ReadPosRankSum=-3.710e-01;SOR=0.665	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1191,0,1179	20	0	1	0
chr2	21003040	21003040	C	T	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon29:c.G12382A:p.V4128M,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	YES	1	1501	19	1	0	21	0.00694674	.	.	366335	not_specified|Hypercholesterolemia,_autosomal_dominant,_type_B|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia	MedGen:CN169374|MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.004	B	0.002	B	0.051	N	1.000	N	-0.6	N	1.47	T	-1.057	T	0.016	T	0.055	-0.523	1.616	-12.0	-2.864	-1.892	5.102	0.024	.	0.0067	0.00339457	0.0062	0.0009	0.0059	0	0.0064	0.0080	0.0146	0.0049	0.0058602	906	154602	rs1801703	0.0072	0.0072	0.0073	0.0072	0.0100	0.0071	0.0071	0.0079	0.0079	0.0017	0.0043	0.0007	7.656e-05	0.0054	0.0100	0.0081	0.0075	0.0052	0.0056	0.0056	0.0057	0.0054	0.0093	0.0053	0.0051	0.0087	0.0085	0.0016	0	0.0046	0.0012	0	0.0048	0.0034	0.0093	0.0052	0.0029	0.618	0.05341	T	0.684	0.06033	T	.	.	.	.	.	.	0.051185	0.02021	N	1.899840	1	0.08975	N	.	.	.	1.47	0.31987	T	0.16	0.05217	N	0.065	0.03726	-1.0567	0.12595	T	0.016	0.06425	T	10	0.0028062165	0.00044	T	.	.	.	0.024	0.04979	.	.	0.149567049428	0.14543	0.09888669999826209	0.09819	0.0368754698301	0.03907	0.182299241424	0.00117	T	.	.	.	-0.723562	0.00026	T	-0.804162	0.01801	T	0.00187586309304137	0.00019	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.09045	B	.	.	-0.778509	0.01150	0.054	0.56985998092514478	0.05670	0.04011	0.09439	N	AEFGBHCI	0.241675	0.36325	N	-2.3493621597773	0.00035	0.001513355	-2.3987015562225	0.00039	0.001737205	0.999999999999984	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.99	-12.0	0.00013	-1.855000	0.01755	-8.347000	0.00985	-0.688000	0.04154	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2677:0.4423:0.1244:0.1655	5.102	0.14098	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.02381	2146.98	40	chr2	21003040	.	C	T	2146.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=1029;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=-1.094e+00;SOR=0.675	GT:AD:DP:GQ:PL	0/1:101,80:181:99:2161,0,2663	20	0	1	0
chr2	21007033	21007033	T	C	exonic	APOB	.	nonsynonymous SNV	APOB:NM_000384:exon26:c.A9835G:p.S3279G,	Hypercholesterolemia, due to ligand-defective apo B, Autosomal dominant;Hypobetalipoproteinemia, Autosomal recessive	.	0	1455	64	3	0	70	0.0234899	.	.	215238	Hypercholesterolemia,_autosomal_dominant,_type_B|not_specified|Familial_hypobetalipoproteinemia_1|Familial_hypercholesterolemia|not_provided|Hypercholesterolemia,_familial,_1|Cardiovascular_phenotype	MONDO:MONDO:0007751,MedGen:C1704417,OMIM:144010|MedGen:CN169374|MONDO:MONDO:0014252,MedGen:C4551990,OMIM:615558|MONDO:MONDO:0005439,MedGen:C0020445,OMIM:PS143890|MedGen:C3661900|MONDO:MONDO:0007750,MedGen:C0745103,OMIM:143890,Orphanet:391665|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.03	D	0.991	D	0.913	D	0.232	N	1.000	D	2.995	M	1.1	T	-0.676	T	0.159	T	0.029	1.334	10.38	3.41	0.579	3.329	11.412	0.264	.	0.0086	0.0071885	0.0044	0.0159	0.0067	0	0	0.0039	0.0121	0.0012	0.0044307	685	154602	rs12720854	0.0033	0.0033	0.0032	0.0033	0.0565	0.0032	0.0031	0.0515	0.0495	0.0184	0.0064	0.0102	0	0.0001	0.0565	0.0025	0.0065	0.0013	0.0076	0.0077	0.0076	0.0077	0.0170	0.0073	0.0071	0.0160	0.0156	0.0170	0	0.0103	0.0136	0.0002	0	0.0646	0.0029	0.0137	0.0010	0.015	0.52492	D	0.003	0.76473	D	.	.	.	.	.	.	0.232473	0.15889	N	0.611296	0.64386	0.30592	N	.	.	.	1.1	0.39050	T	-1.98	0.45769	N	0.246	0.27792	-0.6764	0.61538	T	0.159	0.49262	T	10	0.004425019	0.00090	T	.	.	.	0.264	0.57741	.	.	0.68203097115	0.67932	0.4890100810306947	0.48821	0.0491091118445	0.05371	0.247466355562	0.03505	T	.	.	.	-0.577868	0.00199	T	-0.589218	0.13734	T	0.0582436336760406	0.06889	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.15115	B	.	.	1.757170	0.22349	15.58	0.98647528733884859	0.44137	0.94699	0.62026	D	AEFBHCI	0.702324	0.65873	D	0.205179900652132	0.51449	3.326111	-0.00190597407924668	0.39631	2.352652	0.999990155919605	0.74766	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.6	3.41	0.38145	3.427000	0.52552	0.098000	0.14610	0.665000	0.62972	1.000000	0.71638	0.000000	0.08366	0.120000	0.19168	0.0:0.0:0.1512:0.8488	11.412	0.49171	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.07143	34170.68	37	chr2	21007033	.	T	C	34170.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.423e+00;DP=3883;ExcessHet=0.3300;FS=0.520;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.91;ReadPosRankSum=-6.800e-01;SOR=0.635	GT:AD:DP:GQ:PL	0/1:366,440:806:99:11426,0,9826	18	0	3	0
chr2	24816746	24816746	C	T	exonic	CENPO	.	nonsynonymous SNV	CENPO:NM_001199803:exon5:c.C677T:p.P226L	.	.	434	1073	15	0	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.007	B	0.003	B	0.992	N	1.000	N	0.49	N	0.96	T	-1.030	T	0.048	T	0.178	1.083	9.422	-2.0	-0.344	-0.312	1.202	0.012	0.00421721436022	0.0013	0.000798722	0.0016	0.0004	0.0015	0	0	0.0018	0.0044	0.0028	0.0013907	215	154602	rs146239018	0.0012	0.0012	0.0011	0.0013	0.0106	0.0012	0.0011	0.0085	0.0077	0.0007	0.0013	0.0131	0	0	0.0106	0.0008	0.0026	0.0022	0.0011	0.0011	0.0012	0.0011	0.0019	0.0010	0.0009	0.0014	0.0012	0.0004	0	0.0019	0.0127	0	0.0002	0.0068	0.0009	0.0033	0.0019	0.387	0.10945	T	0.221	0.26798	T	0.002	0.14184	B	0.001	0.08700	B	0.992455	0.08021	N	0.996520	1	0.08975	N	0.455	0.12820	N	0.96	0.43279	T	-1.61	0.38734	N	0.171	0.20528	-1.0299	0.20487	T	0.048	0.20474	T	10	0.0072517693	0.00165	T	0.004217	0.10184	T	0.012	0.01476	.	.	0.162503812791	0.15892	0.3182500386346372	0.31738	0.136192186029	0.15359	0.244991227984	0.03258	T	0.026267	0.19473	T	-0.585376	0.00179	T	-0.618555	0.11299	T	0.00501719910607361	0.00054	T	0.623338	0.24021	T	0.019508561	0.00483	0.02648668	0.00740	0.019508561	0.00483	0.02648668	0.00740	-1.69	0.02203	T	.	.	0.077	0.06433	B	.;.;.	.;.;.	0.522659	0.08917	5.695	0.67942492072413341	0.08507	0.13914	0.18121	N	AEFGBCI	0.080761	0.16334	N	-1.3862766043433	0.02766	0.122598	-1.38463751934033	0.03415	0.1592506	0.999908788023726	0.45458	0.730579	0.87903	0	0.702456	0.74545	0	0.702456	0.68683	0	0.648885	0.59868	0	.	.	6.08	-2.0	0.07024	-0.225000	0.09156	-0.223000	0.10745	-0.906000	0.02296	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.211:0.3613:0.1031:0.3246	1.202	0.01771	356	0.85138	.;.;.	.	.	.	.	.	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	1797.98	34	chr2	24816746	.	C	T	1797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.394;DP=828;ExcessHet=0.0000;FS=0.640;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.617;SOR=0.792	GT:AD:DP:GQ:PL	0/1:65,71:136:99:1812,0,1592	20	0	1	0
chr2	24918953	24918953	T	C	exonic	ADCY3	.	nonsynonymous SNV	ADCY3:NM_001320613:exon2:c.A35G:p.Y12C	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.002	B	0.002	B	0.066	N	1.000	D	0.41	N	0.85	T	-0.758	T	0.269	T	0.367	1.797	11.97	2.96	0.620	1.430	9.691	0.145	0.0577367480094	.	.	2.939e-05	0	0	0	0	2.731e-05	0	8.182e-05	1.29e-05	2	154602	rs775553008	4.13e-06	4.788e-06	0	8.306e-06	4.669e-05	1.49e-06	9.8e-07	1.59e-05	9.35e-06	0	0	0	0	0	0	1.803e-06	0	4.669e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.41637	T	0.122	0.45744	T	0.002	0.09854	B	0.002	0.06944	B	0.066242	0.21823	N	0.452851	0.978879	0.39505	D	1.79	0.46772	L	-1.4	0.80474	T	-1.43	0.77143	N	0.21	0.23380	-0.7583	0.57498	T	0.269	0.64088	T	10	0.12669769	0.24088	T	0.057737	0.67070	D	0.145	0.38592	0.147	0.05039	0.712508127112	0.70999	0.5355224935663793	0.53477	0.595676403535	0.54834	0.761642277241	0.76174	T	0.424454	0.77488	T	-0.0451456	0.45181	T	-0.201995	0.54458	T	0.112580279380554	0.13690	T	0.878312	0.59309	D	0.34845617	0.56946	0.15410785	0.36183	0.34845617	0.56946	0.15410785	0.36182	-6.555	0.50709	T	.	.	0.075	0.21840	B	.;.;.;.	.;.;.;.	3.081644	0.41459	21.4	0.97849400931914565	0.36385	0.76994	0.37809	D	AEFDGBCI	0.483267	0.52378	N	-0.440482095496127	0.24063	1.29673	-0.294764897775868	0.28271	1.574897	0.99999771895305	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.526803	0.08958	0	.	.	4.15	2.96	0.33383	1.427000	0.34489	5.047000	0.46963	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.1754:0.8246	9.691	0.39290	284	0.88763	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1755.98	34	chr2	24918953	.	T	C	1755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=865;ExcessHet=0.0000;FS=2.558;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.57;ReadPosRankSum=-2.510e-01;SOR=0.899	GT:AD:DP:GQ:PL	0/1:43,63:106:99:1770,0,1076	20	0	1	0
chr2	25141399	25141399	A	G	exonic	EFR3B	.	nonsynonymous SNV	EFR3B:NM_001319099:exon17:c.A1783G:p.M595V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.007	B	0.009	B	0.000	D	0.776	N	0	N	1.59	T	-1.060	T	0.032	T	0.266	2.468	14.21	-0.992	0.271	0.659	8.128	0.051	0.00743439084095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.43e-05	2.326e-05	2.821e-05	2.029e-05	3.059e-05	1.749e-05	1.543e-05	2.181e-05	1.919e-05	0	0	0	0	0	0	3.059e-05	1.724e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.56456	D	0.034	0.64786	D	0.006	0.14184	B	0.009	0.14300	B	0.000051	0.53742	D	0.124126	0.775911	0.29386	N	0.895	0.22405	L	1.57	0.29342	T	-1.23	0.35399	N	0.299	0.38027	-1.0598	0.11805	T	0.032	0.13898	T	10	0.12768352	0.24283	T	0.007434	0.19712	T	0.051	0.14325	0.507	0.60232	0.0401082797425	0.02173	0.5221415511963132	0.52137	.	.	0.435189276934	0.29919	T	0.041403	0.25847	T	-0.185839	0.22870	T	-0.504722	0.21859	T	0.694706797599792	0.40467	D	0.971903	0.91674	D	0.18841374	0.40339	0.19827443	0.43652	0.18841374	0.40339	0.19827443	0.43651	-5.68	0.48069	T	.	.	0.187	0.40328	B	.;.;.;.;.	.;.;.;.;.	2.450666	0.31553	18.78	0.96146348989340658	0.28853	0.70656	0.34681	D	AEFDBHCI	0.337466	0.43525	N	-0.549991173131911	0.20484	1.080151	-0.40403145465097	0.24878	1.364875	0.243722196748508	0.18601	0.615465	0.37627	0	0.60822	0.50512	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.25	-0.992	0.09709	0.666000	0.24779	2.296000	0.31988	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.988000	0.63387	0.3696:0.5025:0.0:0.1279	8.128	0.30170	564	0.70960	.;.;.;.;.	.	.	.	.	.	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	1614.98	34	chr2	25141399	.	A	G	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.450e-01;DP=829;ExcessHet=0.0000;FS=1.423;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-5.570e-01;SOR=0.630	GT:AD:DP:GQ:PL	0/1:57,65:122:99:1629,0,1411	20	0	1	0
chr2	43813208	43813208	T	C	exonic	ABCG5	.	nonsynonymous SNV	ABCG5:NM_022436:exon13:c.A1864G:p.M622V,	Sitosterolemia, Autosomal recessive	.	0	1457	65	0	0	65	0.0218194	.	.	191425	Cardiovascular_phenotype|Sitosterolemia_1|not_specified|Sitosterolemia_2|Sitosterolemia|not_provided	MedGen:CN230736|MONDO:MONDO:0020747,MedGen:C2749759,OMIM:210250|MedGen:CN169374|MONDO:MONDO:0020748,MedGen:C5231453,OMIM:618666|MONDO:MONDO:0008863,MedGen:C0342907,OMIM:PS210250,Orphanet:2882|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.42	T	0.006	B	0.006	B	0.217	N	1.000	N	0.345	N	2.58	T	-0.653	T	0.334	T	0.086	-1.324	0.033	-5.22	-1.297	-0.966	8.877	0.011	.	0.0052	0.00239617	0.0054	0.0016	0.0041	0.0006	0.0003	0.0074	0.0102	0.0051	0.005401	835	154602	rs140374206	0.0061	0.0061	0.0060	0.0062	0.0202	0.0060	0.0059	0.0172	0.0161	0.0019	0.0048	0.0155	0.0002	0.0006	0.0202	0.0064	0.0071	0.0055	0.0048	0.0048	0.0050	0.0045	0.0066	0.0045	0.0044	0.0061	0.0059	0.0014	0.0011	0.0057	0.0193	0	0	0.0544	0.0066	0.0109	0.0041	0.531	0.07002	T	0.144	0.33109	T	0.0	0.02946	B	0.0	0.01387	B	0.216745	0.03425	N	1.568630	1	0.08975	N	0	0.06538	N	-2.49	0.89145	D	-0.36	0.13035	N	0.018	0.00252	-0.6531	0.62579	T	0.334	0.70125	T	10	0.0076950192	0.00175	T	.	.	.	0.011	0.01250	.	.	0.504052602331	0.50044	0.7185875474098846	0.71801	0.0703236255297	0.07878	0.225100964308	0.01626	T	0.198767	0.55585	T	-0.493517	0.00622	T	-0.472284	0.25270	T	0.000250442206110192	0.00002	T	0.458654	0.13238	T	0.097186916	0.22905	0.107392155	0.25852	0.10175871	0.24038	0.097454526	0.23198	-2.812	0.08294	T	.	.	0.056	0.00487	B	.;.	.;.	-0.629185	0.01494	0.094	0.68266087374631024	0.08605	0.02739	0.07414	N	AEFBI	0.158635	0.28432	N	-1.60752377494272	0.01227	0.05337413	-1.64739804604442	0.01389	0.06277521	0.781759617847762	0.23856	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.89	-5.22	0.02592	-0.667000	0.05374	-2.542000	0.03629	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.673000	0.33338	0.1141:0.5016:0.0:0.3844	8.877	0.34510	650	0.62973	.;.	.	.	.	.	.	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	1776.98	33	chr2	43813208	.	T	C	1776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.838;DP=891;ExcessHet=0.0000;FS=0.676;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=0.174;SOR=0.721	GT:AD:DP:GQ:PL	0/1:55,66:121:99:1791,0,1364	20	0	1	0
chr2	61070499	61070499	A	G	exonic	KIAA1841	.	nonsynonymous SNV	KIAA1841:NM_001129993:exon3:c.A149G:p.E50G	.	.	.	.	.	.	.	.	.	0.9972	0.912	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.982	D	0.000	D	1.000	D	0.975	L	0.78	T	-0.679	T	0.218	T	0.809	4.882	28.0	5.8	2.216	8.476	16.160	0.383	0.0718254164303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390991886	3.439e-06	4.788e-06	2.737e-06	4.148e-06	0.0005	1.01e-06	7.3e-07	0.0001	7.557e-05	0	0	0	0	0	0.0005	9.014e-07	1.664e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	1.0	0.90584	D	0.96	0.75477	D	0.000000	0.84330	D	0.048803	0.999999	0.58761	D	2.24	0.63355	M	0.78	0.49358	T	-3.06	0.63090	D	0.755	0.75466	-0.6793	0.61405	T	0.218	0.58007	T	10	0.7384215	0.74785	D	0.071825	0.71371	D	0.383	0.70029	0.221	0.14371	0.793874951626	0.79196	0.5774787042657404	0.57676	0.240960108815	0.26630	0.616234183311	0.55196	T	0.091465	0.38801	T	0.149426	0.69213	D	-0.00765093	0.69838	D	0.947219371795654	0.62633	D	0.913109	0.69007	D	0.3024386	0.53122	0.5175108	0.72123	0.3024386	0.53122	0.5175108	0.72123	-13.06	0.89886	D	.	.	0.352	0.56702	A	.;.;.;.	.;.;.;.	5.792068	0.93574	33	0.99915606615305153	0.98379	0.99117	0.91475	D	AEFBI	0.896231	0.83708	D	0.697510166854969	0.79470	7.084216	0.732694339523751	0.84861	8.411431	0.999998466952546	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	8.534000	0.90429	10.993000	0.84699	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	1.0:0.0:0.0:0.0	16.160	0.81506	398	0.82839	SANT/Myb domain;.;SANT/Myb domain;.	.	.	.	.	.	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	1235.98	32	chr2	61070499	.	A	G	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.02;DP=734;ExcessHet=0.0000;FS=7.773;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.73;ReadPosRankSum=-1.530e-01;SOR=1.765	GT:AD:DP:GQ:PL	0/1:24,42:66:99:1250,0,536	20	0	1	0
chr2	61826484	61826484	C	T	exonic	FAM161A	.	nonsynonymous SNV	FAM161A:NM_032180:exon6:c.G1954A:p.E652K	Retinitis pigmentosa 28	.	35	1486	1	0	0	1	0.000336361	.	.	177083	not_specified|not_provided|Retinitis_pigmentosa	MedGen:CN169374|MedGen:C3661900|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	.	.	.	.	.	.	.	.	0.26	T	0.673	P	0.461	P	0.839	U	0.955	D	0.805	L	2.52	T	-1.107	T	0.022	T	0.21	3.831	19.46	4.81	2.864	1.156	9.934	0.127	.	0.0047	0.00479233	0.0019	0.0200	0.0009	0	0	0	0	0	0.0014101	218	154602	rs77562614	0.0005	0.0005	0.0006	0.0004	0.0183	0.0005	0.0005	0.0171	0.0167	0.0183	0.0007	0	0	0	0.0009	6.309e-06	0.0009	8.18e-05	0.0050	0.0050	0.0053	0.0047	0.0178	0.0047	0.0046	0.0167	0.0163	0.0178	0	0.0011	0	0	0	0	0	0.0009	0.0002	0.027	0.48186	D	0.013	0.63109	D	0.666	0.41222	P	0.461	0.46460	P	0.839466	0.09045	U	0.794082	0.954521	0.37881	D	1.1	0.28011	L	2.52	0.26445	T	-1.2	0.30555	N	0.312	0.35194	-1.1075	0.03293	T	0.022	0.09421	T	10	0.0039268434	0.00075	T	.	.	.	0.127	0.34888	.	.	0.381916209588	0.37799	0.05158523472989893	0.05100	0.0395574204048	0.04223	0.401684582233	0.25304	T	0.002449	0.01845	T	-0.533101	0.00368	T	-0.523602	0.19931	T	0.0142939826660636	0.00284	T	0.586341	0.22604	T	0.15534613	0.35114	0.14521988	0.34449	0.17398553	0.38177	0.14388753	0.34178	-4.946	0.36248	T	.	.	0.076	0.05890	B	.;.	.;.	3.471788	0.48438	22.6	0.9960063160864816	0.74160	0.13263	0.17757	N	AEFGBI	0.085860	0.17407	N	-0.0585142513353373	0.39221	2.309572	-0.0111443966212453	0.39210	2.321438	0.070856996527915	0.15545	0.693126	0.56070	0	0.670034	0.63936	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	5.7	4.81	0.61401	1.300000	0.33040	3.747000	0.39671	0.571000	0.28931	0.203000	0.24344	1.000000	0.68203	0.674000	0.33367	0.0:0.9095:0.0:0.0905	9.934	0.40711	204	0.92044	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	947.98	34	chr2	61826484	.	C	T	947.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.069;DP=791;ExcessHet=0.0000;FS=5.612;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=-4.010e-01;SOR=0.964	GT:AD:DP:GQ:PL	0/1:42,41:83:99:962,0,994	20	0	1	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	2/5:0,0,20,0,2,12:34:99:1312,1318,1402,503,587,526,1318,1402,587,1402,1249,1332,523,1332,1463,792,798,0,798,729,753	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	2/5:0,0,20,0,2,12:34:99:1312,1318,1402,503,587,526,1318,1402,587,1402,1249,1332,523,1332,1463,792,798,0,798,729,753	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	2/5:0,0,20,0,2,12:34:99:1312,1318,1402,503,587,526,1318,1402,587,1402,1249,1332,523,1332,1463,792,798,0,798,729,753	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	2/5:0,0,20,0,2,12:34:99:1312,1318,1402,503,587,526,1318,1402,587,1402,1249,1332,523,1332,1463,792,798,0,798,729,753	0	4	5	0
chr2	73490070	73490070	C	T	exonic	ALMS1	.	nonsynonymous SNV	ALMS1:NM_001378454:exon10:c.C8111T:p.S2704F	Alstrom syndrome, Autosomal recessive	.	0	225	1	0	0	1	0.00221729	.	.	366754	not_provided|Alstrom_syndrome	MedGen:CN517202|MONDO:MONDO:0008763,MedGen:C0268425,OMIM:203800,Orphanet:64	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.14	T	0.662	P	0.205	B	0.011	N	0.911	D	0.69	N	3.4	T	-0.885	T	0.012	T	0.334	1.529	11.07	3.18	1.277	1.302	8.028	0.033	0.00464368936457	.	.	2.484e-05	0	0	0.0003	0	0	0	0	1.94e-05	3	154602	rs761272792	8.209e-06	8.209e-06	4.084e-06	1.238e-05	0.0003	4.38e-06	3.46e-06	0.0002	0.0001	0	0	0	0.0003	0	0	0	0	1.159e-05	1.313e-05	1.312e-05	0	2.686e-05	0.0004	2.18e-06	8.2e-07	6.837e-05	2.861e-05	0	0	0	0	0.0004	0	0	0	0	0	.	.	.	0.036	0.52060	D	.	.	.	.	.	.	0.011473	0.29519	N	0.162599	0.999903	0.19694	N	.	.	.	.	.	.	.	.	.	0.174	0.18649	-0.8848	0.49373	T	0.012	0.04463	T	10	0.087083936	0.14867	T	0.004644	0.11503	T	.	.	.	.	0.290222751274	0.28632	0.08538177700492285	0.08472	.	.	0.30428904295	0.11044	T	0.022336	0.17240	T	-0.305788	0.08124	T	-0.368152	0.37104	T	0.335586160421371	0.26448	T	0.80392	0.45144	T	0.061070316	0.12605	0.08103143	0.18381	0.061070316	0.12605	0.08103143	0.18380	-4.34	0.28734	T	0.16284349050047592	0.20028	0.124	0.25978	B	.;.;.	.;.;.	2.978699	0.39725	21.0	0.99763316129990876	0.85254	0.23414	0.22068	N	AEFBI	0.048533	0.08291	N	-0.358019862327159	0.26979	1.476639	-0.376762406087075	0.25690	1.414409	5.64770223885601E-4	0.07335	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.06	3.18	0.35615	1.012000	0.29527	2.742000	0.34470	0.599000	0.40250	0.154000	0.23713	0.991000	0.31484	0.370000	0.26111	0.0:0.89:0.0:0.11	8.028	0.29607	667	0.61242	.;.;.	.	.	.	.	.	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	2204.98	34	chr2	73490070	.	C	T	2204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=1121;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=-1.384e+00;SOR=0.703	GT:AD:DP:GQ:PL	0/1:109,86:195:99:2219,0,2951	20	0	1	0
chr2	74576580	74576580	G	A	exonic	M1AP	.	nonsynonymous SNV	M1AP:NM_001281295:exon6:c.C808T:p.P270S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.125	M	0.9	T	-0.591	T	0.259	T	0.886	4.107	21.2	5.71	2.689	7.359	15.363	0.472	0.0236138971067	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.998202	0.81001	D	2.72	0.79541	M	0.9	0.45248	T	-5.67	0.87143	D	0.88	0.87808	-0.5906	0.65197	T	0.259	0.62966	T	10	0.7351296	0.74567	D	0.023614	0.46588	T	0.472	0.76554	0.45	0.51121	0.269558022972	0.26553	0.6678630298760114	0.66724	0.61853984437	0.56242	0.50489461422	0.39510	T	0.497585	0.81939	T	0.25175	0.78766	D	0.123845	0.78490	D	0.997781336307526	0.92414	D	0.90461	0.66442	D	0.7325764	0.79869	0.7685544	0.86332	0.7325764	0.79871	0.7685544	0.86333	-3.104	0.11342	T	.	.	0.585	0.70101	P	.;.;.	.;.;.	4.565460	0.71987	25.8	0.99921928952978767	0.98787	0.89225	0.49563	D	AEFDBCIJ	0.870142	0.79099	D	0.824267905339337	0.87598	9.273947	0.801786393754398	0.89918	10.17666	0.99999999919925	0.74766	0.632932	0.41330	0	0.624146	0.53433	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	5.71	5.71	0.89031	7.409000	0.79273	11.914000	0.99653	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:1.0:0.0	15.363	0.74207	158	0.93861	.;.;.	.	.	.	.	.	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	1956.98	34	chr2	74576580	.	G	A	1956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.99;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.94;ReadPosRankSum=-3.410e-01;SOR=0.714	GT:AD:DP:GQ:PL	0/1:65,66:131:99:1971,0,1912	20	0	1	0
chr2	84584059	84584059	T	C	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon15:c.T2290C:p.Y764H,	.	.	436	1076	10	0	0	10	0.00462535	.	.	3192400	DNAH6-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.988	D	0.001	N	0.893	D	1.955	M	1.77	T	-0.747	T	0.174	T	0.675	2.484	14.27	5.73	2.180	6.167	14.995	0.183	.	.	0.00579073	0.0038	0	0.0004	0	0	0	0	0.0273	0.0032276	499	154602	rs200199170	0.0016	0.0016	0.0009	0.0024	0.0258	0.0015	0.0015	0.0249	0.0246	0	2.236e-05	0	0	0	0.0012	1.169e-05	0.0016	0.0258	0.0008	0.0008	0.0004	0.0013	0.0261	0.0007	0.0007	0.0224	0.0210	0	0	0	0	0.0002	0	0	1.47e-05	0	0.0261	0.051	0.39334	T	.	.	.	0.614	0.39766	P	0.293	0.40773	B	0.001272	0.39594	N	0.000000	0.892514	0.35984	D	2.32	0.66415	M	1.67	0.27331	T	-4.11	0.74980	D	0.739	0.74098	-0.7467	0.58107	T	0.174	0.51785	T	10	0.0076731145	0.00174	T	.	.	.	0.183	0.45592	0.436	0.48828	0.408853032482	0.40503	0.7354688801750067	0.73491	0.147024445095	0.16587	0.763294935226	0.76421	T	0.038791	0.24963	T	-0.335125	0.05734	T	-0.234563	0.51328	T	0.146278109477469	0.16804	T	0.777622	0.41060	T	0.29990986	0.52897	0.32841283	0.58730	0.29990986	0.52897	0.32841283	0.58729	-5.546	0.42296	T	.	.	0.335	0.55549	B	.;.	.;.	3.978615	0.58476	24.0	0.99183095809638688	0.54730	0.93454	0.58260	D	AEI	0.637185	0.61606	D	0.439094723694174	0.63586	4.595334	0.446326584897032	0.64482	4.704304	0.907342551405763	0.26256	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.73	5.73	0.89730	6.144000	0.71525	7.829000	0.70041	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.884000	0.42379	0.0:0.0:0.0:1.0	14.995	0.71077	823	0.40596	.;.	.	.	.	.	.	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	1442.98	34	chr2	84584059	.	T	C	1442.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=836;ExcessHet=0.0000;FS=2.159;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.23;ReadPosRankSum=-1.280e-01;SOR=0.560	GT:AD:DP:GQ:PL	0/1:82,59:141:99:1457,0,2103	20	0	1	0
chr2	84621332	84621332	G	T	exonic	DNAH6	.	nonsynonymous SNV	DNAH6:NM_001370:exon25:c.G3934T:p.V1312L,	.	.	436	1075	11	0	0	11	0.00509024	.	.	3206927	DNAH6-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.04	D	0.011	B	0.02	B	.	.	0.994	D	0.55	N	0.31	T	-0.938	T	0.139	T	0.641	3.358	17.31	5.02	2.326	6.289	17.109	0.207	.	.	0.00698882	0.0111	0	0.0049	0.0016	0	0	0	0.0299	0.0018823	291	154602	rs536205406	0.0018	0.0017	0.0010	0.0026	0.0291	0.0017	0.0017	0.0281	0.0277	0	2.801e-05	0	0.0009	0	0.0014	1.39e-05	0.0020	0.0291	0.0011	0.0011	0.0006	0.0016	0.0313	0.0010	0.0009	0.0272	0.0257	0	0	0	0	0.0025	0	0	1.47e-05	0.0005	0.0313	0.195	0.20759	T	.	.	.	0.011	0.15914	B	0.02	0.19048	B	.	.	.	.	0.993671	0.42016	D	1.065	0.27018	L	0.31	0.58613	T	-1.1	0.28497	N	0.556	0.58117	-0.9377	0.42979	T	0.139	0.45810	T	9	0.0050103962	0.00108	T	.	.	.	0.207	0.49555	0.729	0.86286	0.57674044448	0.57342	0.8791307904824415	0.87880	0.0816516279141	0.09195	0.569755673409	0.48643	T	0.005429	0.04881	T	-0.319592	0.06931	T	-0.210219	0.53675	T	0.0455757744952358	0.04706	T	0.80432	0.45191	T	0.21282794	0.43646	0.22386102	0.47278	0.21282794	0.43646	0.22386102	0.47277	-6.472	0.50070	T	.	.	0.311	0.53861	B	.;.	.;.	4.724952	0.76048	26.4	0.99273695377691173	0.57661	0.96174	0.67873	D	AEFI	0.742885	0.68636	D	-0.0139051730231737	0.41226	2.462145	0.183516655819133	0.48944	3.10372	0.999101509176022	0.38452	0.549168	0.22868	0	0.588015	0.36545	0	0.624306	0.44879	0	0.616125	0.45549	0	.	.	5.02	5.02	0.66742	5.338000	0.65718	11.769000	0.95814	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.109	0.86547	698	0.58074	.;.	.	.	.	.	.	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	1693.98	34	chr2	84621332	.	G	T	1693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.26;DP=829;ExcessHet=0.0000;FS=1.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.55;ReadPosRankSum=0.870;SOR=0.562	GT:AD:DP:GQ:PL	0/1:69,66:135:99:1708,0,1719	20	0	1	0
chr2	94874110	94874110	T	G	splicing	TEKT4	NM_001286559:exon3:c.167+2T>G;NM_144705:exon3:c.713+2T>G	.	.	.	.	406	1070	44	2	0	48	0.0219378	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.317	13.70	2.24	0.779	4.740	8.014	.	.	.	.	0.0040	0.0040	0.0018	0.0039	0.0052	0.0040	0.0082	0.0048	0.0004995	13	26028	rs201662522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0210978	0.54528	T	-0.207471	0.53936	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.728960	0.53327	23.3	0.92961029893543212	0.22537	0.79885	0.39676	D	AEFDGBCI	.	.	.	0.522301970175972	0.68412	5.213453	0.198859362804565	0.49784	3.177611	0.997889277469928	0.36150	0.055872	0.00684	0	0.068659	0.01829	0	0.067067	0.01885	0	0.078985	0.02075	0	0.724399	0.43579	2.24	2.24	0.27264	2.478000	0.44848	6.975000	0.57104	0.334000	0.19664	1.000000	0.71638	1.000000	0.68203	0.087000	0.17632	0.0:0.0:0.0:1.0	8.014	0.29532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	415.2	33	chr2	94874110	.	T	G	415.2	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-1.707e+00;DP=893;ExcessHet=1.7912;FS=3.157;InbreedingCoeff=-0.1724;MLEAC=6;MLEAF=0.143;MQ=58.57;MQRankSum=-7.504e+00;QD=1.07;ReadPosRankSum=2.48;SOR=0.472	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,5:66:26:0|1:94874110_T_G:26,0,2546:94874110	15	0	6	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|1:323,24:347:35:0|1:94876618_C_G:35,0,13490:94876618	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|1:339,35:374:99:0|1:94876618_C_G:451,0,14029:94876618	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	0/1:409,42:451:99:.:.:533,0,16779	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	0/1:405,48:453:99:.:.:797,0,16556	2	0	19	0
chr2	95276098	95276098	A	G	exonic	PROM2	.	nonsynonymous SNV	PROM2:NM_001165977:exon3:c.A463G:p.M155V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.012	B	0.016	B	0.005	N	0.931	N	1.39	L	0.96	T	-1.050	T	0.065	T	0.293	1.081	9.414	1.14	0.206	0.335	3.644	0.034	0.00686623957686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.112e-06	4.104e-06	5.455e-06	2.755e-06	1.16e-05	1.48e-06	9.7e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.314e-05	1.16e-05	6.572e-06	6.567e-06	0	1.345e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.228	0.18434	T	0.114	0.36765	T	0.012	0.16265	B	0.016	0.17743	B	0.005265	0.32945	N	0.301070	0.930784	0.27063	N	2.075	0.57047	M	0.96	0.42888	T	-1.1	0.28497	N	0.39	0.43126	-1.0498	0.14453	T	0.065	0.26878	T	10	0.15294328	0.28880	T	0.006866	0.18149	T	0.034	0.08419	0.612	0.74535	0.0954503805726	0.09146	0.43196929951677715	0.43113	0.174624828113	0.19662	0.306970357895	0.11448	T	0.013516	0.11676	T	-0.193772	0.21707	T	-0.516117	0.20689	T	0.096429169178009	0.11959	T	0.574243	0.20591	T	0.08209806	0.18895	0.11700569	0.28244	0.08209806	0.18895	0.11700569	0.28243	-3.969	0.23338	T	.	.	0.093	0.14523	B	.;.;.	.;.;.	0.818213	0.11893	8.458	0.899156135301867	0.19215	0.43728	0.27162	N	AEFDBI	0.088817	0.18004	N	-0.583071668216648	0.19459	1.018587	-0.494226145882771	0.22311	1.211266	0.999949657997711	0.47345	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.94	1.14	0.19817	0.099000	0.15047	0.545000	0.19369	0.756000	0.94297	0.822000	0.30018	0.860000	0.27479	0.300000	0.24500	0.6015:0.1941:0.2045:0.0	3.644	0.07716	.	.	.;.;.	.	.	.	.	.	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	1249.98	40	chr2	95276098	.	A	G	1249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.318;DP=883;ExcessHet=0.0000;FS=3.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.62;ReadPosRankSum=0.115;SOR=1.022	GT:AD:DP:GQ:PL	0/1:110,54:164:99:1264,0,2982	20	0	1	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	0/1:173,42:215:99:.:.:855,0,4595	0	0	21	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	0/1:196,141:337:99:2966,0,5309	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	0/1:212,94:306:99:.:.:2270,0,6265	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	0/1:264,28:292:47:47,0,10289	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	0/1:213,73:286:99:.:.:1632,0,6259	0	0	21	0
chr2	95859895	95859895	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4960G:p.T1654A,	.	.	951	467	84	20	0	124	0.117202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.33	T	-0.992	T	0.020	T	0.208	-0.096	3.531	1.85	1.110	0.669	7.648	0.035	.	.	.	0.4444	0.4790	0.4373	0.4517	0.4253	0.4197	0.4345	0.4715	0.0150223	391	26028	rs75198192	4.293e-06	9.85e-05	5.648e-06	2.901e-06	2.806e-05	1.54e-06	1.02e-06	.	.	0	2.806e-05	0	0	4.058e-05	0	0	5.178e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.222	0.25748	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999981	0.18198	N	.	.	.	2.33	0.16492	T	-0.27	0.11366	N	0.03	0.00717	-0.9918	0.32141	T	0.020	0.08593	T	9	0.0021876395	0.00032	T	.	.	.	0.035	0.08770	.	.	.	.	0.004573925157677656	0.00430	.	.	0.524144649506	0.42211	T	0.007589	0.06987	T	-0.275691	0.11129	T	-0.633787	0.10130	T	0.00243692789656227	0.00025	T	0.119888	0.00926	T	0.026656736	0.01750	0.04326469	0.05342	0.026656736	0.01750	0.04326469	0.05342	-4.496	0.30836	T	.	.	0.118	0.24260	B	.	.	1.595165	0.20400	14.73	0.67616785214816144	0.08408	0.26935	0.23135	N	AEFI	0.048105	0.08173	N	-0.927352117069161	0.10206	0.4865986	-0.909991846583639	0.11858	0.6066753	7.95608252575671E-5	0.04552	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	0.945000	0.28654	2.286000	0.31928	-0.387000	0.05364	0.808000	0.29825	0.078000	0.22336	0.001000	0.02609	0.0:0.0:0.0:1.0	7.648	0.27501	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	0.3333	5668.45	83	chr2	95859895	.	T	C	5668.45	.	AC=14;AF=0.333;AN=42;BaseQRankSum=-4.500e-02;DP=1947;ExcessHet=14.4320;FS=1.573;InbreedingCoeff=-0.4994;MLEAC=14;MLEAF=0.333;MQ=58.17;MQRankSum=-2.110e+00;QD=4.01;ReadPosRankSum=0.759;SOR=0.570	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:78,22:100:99:.:.:386,0,3194	7	0	14	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|1:114,40:154:99:0|1:95859969_A_AT:1336,0,4630:95859969	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|1:114,40:154:99:0|1:95859969_A_AT:1336,0,4630:95859969	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|1:117,40:157:99:0|1:95859969_A_AT:1327,0,4708:95859969	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	0/1:112,34:146:99:993,0,3016	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|1:102,31:133:99:0|1:95860002_T_A:952,0,4179:95860002	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|1:101,29:130:99:0|1:95860002_T_A:911,0,4147:95860002	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|1:90,24:114:99:0|1:95860020_G_A:726,0,3650:95860020	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|1:90,23:113:99:0|1:95860020_G_A:695,0,3653:95860020	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	0/1:75,13:88:99:321,0,2026	1	0	20	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|1:128,21:149:99:0|1:95927222_G_GAT:496,0,5311:95927222	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|1:135,25:160:99:0|1:95927222_G_GAT:643,0,5593:95927222	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|1:137,38:175:99:0|1:95927222_G_GAT:1183,0,5638:95927222	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|1:161,76:237:99:0|1:95927222_G_GAT:2707,0,6532:95927222	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|1:180,99:279:99:0|1:95927222_G_GAT:3595,0,7260:95927222	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|1:185,105:290:99:0|1:95927222_G_GAT:3751,0,7341:95927222	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|1:135,64:199:99:0|1:95929092_T_C:2128,0,5350:95929092	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|1:144,71:215:99:0|1:95929092_T_C:2548,0,5833:95929092	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|1:170,89:259:99:0|1:95929092_T_C:3225,0,6870:95929092	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|1:171,96:267:99:0|1:95929092_T_C:3516,0,6891:95929092	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|1:175,102:277:99:0|1:95929092_T_C:3737,0,6989:95929092	1	0	20	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|1:125,19:144:99:0|1:97185336_GC_G:422,0,5192:97185336	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|1:125,19:144:99:0|1:97185336_GC_G:422,0,5192:97185336	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|1:127,19:146:99:0|1:97185336_GC_G:416,0,5276:97185336	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|1:140,19:159:99:0|1:97185336_GC_G:376,0,5757:97185336	3	0	18	0
chr2	97243955	97243955	G	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.G4417A:p.V1473M,	.	.	590	849	81	2	0	85	0.0476725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.999	D	0.994	D	.	.	1.000	N	0.88	L	2.18	T	-1.030	T	0.064	T	0.062	0.982	9.008	-0.126	-0.032	0.035	5.417	0.057	0.000601302842856	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1464545187	1.381e-06	1.368e-06	1.373e-06	1.389e-06	6.034e-05	2.3e-07	9e-08	9.99e-06	3.74e-06	6.034e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.072	0.43344	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.625	0.15840	N	2.18	0.18875	T	-0.61	0.18042	N	0.143	0.14338	-1.0301	0.20422	T	0.064	0.26385	T	9	0.118860304	0.22481	T	6.01E-4	0.00274	T	0.057	0.16321	.	.	0.146414634003	0.14194	.	.	.	.	0.764153659344	0.76549	T	0.002011	0.01422	T	-0.348598	0.04816	T	-0.738513	0.03953	T	0.0706987633268221	0.08749	T	0.538946	0.18179	T	0.025526589	0.01501	0.03953559	0.04069	0.025526589	0.01501	0.03953559	0.04069	.	.	.	.	.	0.174	0.38062	B	.;.	.;.	0.916956	0.12915	9.426	0.99162555497301486	0.54155	0.01609	0.05211	N	AEFI	0.021311	0.00936	N	-0.795791736362122	0.13420	0.660932	-0.960271156234613	0.10686	0.5397609	1.09738267022487E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	-0.126	0.12855	-0.092000	0.11094	-8.711000	0.00925	0.347000	0.19874	0.479000	0.26792	0.000000	0.08366	0.002000	0.04165	0.3289:0.0:0.6711:0.0	5.417	0.15679	198	0.92335	.;.	.	.	.	.	.	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	0.075	222.96	35	chr2	97243955	.	G	A	222.96	.	AC=3;AF=0.075;AN=40;BaseQRankSum=3.20;DP=1177;ExcessHet=0.3476;FS=41.095;InbreedingCoeff=-0.0699;MLEAC=2;MLEAF=0.050;MQ=39.34;MQRankSum=-3.236e+00;QD=0.54;ReadPosRankSum=-1.338e+00;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:111,8:119:2:0|1:97243955_G_A:2,0,4637:97243955	17	0	3	1
chr2	97243965	97243965	C	A	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4427A:p.P1476Q,	.	.	591	842	87	2	0	91	0.0512676	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	-1.815	N	2.52	T	-0.941	T	0.006	T	0.101	-1.688	0.012	0.145	0.033	0.804	2.431	0.044	0.000600742623665	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879789998	6.907e-07	6.843e-07	0	1.389e-06	2.324e-05	0	0	.	.	0	2.324e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.997	0.01938	T	0.828	0.03739	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-1.445	0.00556	N	2.52	0.14160	T	4.39	0.00039	N	0.233	0.26233	-0.9411	0.42442	T	0.006	0.02093	T	9	0.030890793	0.01219	T	6.01E-4	0.00274	T	0.044	0.11924	.	.	0.0401082797425	0.02173	.	.	.	.	0.80995708704	0.83485	D	0.007683	0.07071	T	-0.355694	0.04379	T	-0.748706	0.03536	T	0.0436866157378679	0.04362	T	0.315568	0.06252	T	0.02105173	0.00688	0.043300506	0.05356	0.02105173	0.00688	0.043300506	0.05356	.	.	.	.	.	0.071	0.03925	B	.;.	.;.	0.290474	0.06670	3.169	0.19759172413942741	0.00681	0.00555	0.02537	N	AEFI	0.011953	0.00118	N	-1.76782903256606	0.00629	0.02711347	-1.6686180707587	0.01283	0.05784733	1.10704589977209E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	1.4	0.145	0.14124	1.831000	0.38781	2.064000	0.30409	-0.484000	0.05061	0.987000	0.36337	0.011000	0.20116	0.002000	0.04165	0.4439:0.2817:0.0:0.2744	2.431	0.04199	198	0.92335	.;.	.	.	.	.	.	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	754.31	35	chr2	97243965	.	C	A	754.31	.	AC=5;AF=0.125;AN=40;BaseQRankSum=2.65;DP=1587;ExcessHet=1.2264;FS=21.000;InbreedingCoeff=-0.1429;MLEAC=5;MLEAF=0.125;MQ=39.13;MQRankSum=-3.457e+00;QD=1.01;ReadPosRankSum=-7.390e-01;SOR=2.842	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,11:126:87:0|1:97243955_G_A:87,0,4711:97243955	15	0	5	1
chr2	97243982	97243982	A	G	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.A4444G:p.K1482E,	.	.	594	783	141	4	0	149	0.0868805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.996	D	0.981	D	.	.	1.000	N	1.04	L	2.27	T	-1.043	T	0.055	T	0.127	0.368	5.998	0.142	0.033	0.116	4.893	0.034	0.000813122360056	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879765967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.647	0.06812	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	1.445	0.36358	L	2.27	0.17431	T	-1.46	0.35792	N	0.191	0.20925	-1.0431	0.16383	T	0.055	0.23375	T	9	0.088907	0.15351	T	8.13E-4	0.00649	T	0.034	0.08419	.	.	0.0482279557977	0.04254	.	.	.	.	0.827668607235	0.86205	D	0.021647	0.16823	T	-0.288376	0.09799	T	-0.652008	0.08814	T	0.0863367564439753	0.10777	T	0.369363	0.08678	T	0.08514416	0.19738	0.10756626	0.25897	0.08514416	0.19737	0.10756626	0.25896	.	.	.	.	.	0.159	0.35183	B	.;.	.;.	0.562033	0.09308	6.087	0.3763639411248757	0.02492	0.01858	0.05739	N	AEFI	0.031364	0.03344	N	-1.15756630415575	0.05656	0.2584313	-1.32943360964929	0.04054	0.1904441	1.15881377853183E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	0.142	0.14111	0.033000	0.13642	-8.971000	0.00886	-0.471000	0.05090	0.001000	0.13787	0.000000	0.08366	0.001000	0.02609	0.8106:0.0:0.1894:0.0	4.893	0.13094	198	0.92335	.;.	.	.	.	.	.	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	2721.84	153	chr2	97243982	.	A	G	2721.84	.	AC=10;AF=0.250;AN=40;BaseQRankSum=1.96;DP=2009;ExcessHet=6.5132;FS=12.145;InbreedingCoeff=-0.3324;MLEAC=10;MLEAF=0.250;MQ=38.40;MQRankSum=-3.421e+00;QD=1.82;ReadPosRankSum=0.177;SOR=1.340	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:108,15:123:99:0|1:97243981_C_T:305,0,4490:97243981	10	0	10	1
chr2	97243989	97243989	C	T	exonic	ANKRD36	.	nonsynonymous SNV	ANKRD36:NM_001354587:exon70:c.C4451T:p.A1484V,	.	.	603	769	146	4	0	154	0.0910165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.566	P	0.11	B	.	.	1.000	N	-0.695	N	2.35	T	-1.001	T	0.013	T	0.162	0.638	7.428	-0.226	0.036	-0.164	4.757	0.009	0.00106584311882	.	.	4.541e-05	0	0	0	0	0	0	0.0003	3.84e-05	1	26028	rs879638068	2.069e-06	1.163e-05	2.744e-06	1.387e-06	3.54e-05	5.5e-07	1.5e-07	9.4e-06	4.61e-06	0	0	0	0	0	0	0	0	3.54e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.19430	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0	0.06538	N	2.35	0.16217	T	1.55	0.00694	N	0.16	0.16725	-1.0012	0.29574	T	0.013	0.05129	T	9	0.043822676	0.03272	T	0.001066	0.01215	T	0.009	0.00846	.	.	0.0138822411134	0.00435	.	.	.	.	0.738302230835	0.72722	T	0.006193	0.05627	T	-0.286201	0.10021	T	-0.648885	0.09033	T	0.0436484596629869	0.04357	T	0.352565	0.07917	T	0.018949645	0.00419	0.03829343	0.03666	0.018949645	0.00418	0.03829343	0.03665	.	.	.	.	.	0.116	0.23255	B	.;.	.;.	0.661907	0.10304	7.035	0.93505387120157391	0.23315	0.00023	0.00238	N	AEFI	0.010700	0.00081	N	-1.46380150830159	0.02111	0.09285368	-1.52457588063721	0.02156	0.09874057	1.16333637191878E-6	0.01202	0.706298	0.61202	0	0.709663	0.81188	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	1.4	-0.226	0.12460	0.981000	0.29124	-0.502000	0.08796	-1.926000	0.00503	0.002000	0.15269	0.000000	0.08366	0.000000	0.00833	0.0:0.1981:0.0:0.8019	4.757	0.12464	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	1	0	0	0	0.25	3278.89	148	chr2	97243989	.	C	T	3278.89	.	AC=10;AF=0.250;AN=40;BaseQRankSum=0.381;DP=2004;ExcessHet=6.5132;FS=9.348;InbreedingCoeff=-0.3333;MLEAC=10;MLEAF=0.250;MQ=38.06;MQRankSum=-3.253e+00;QD=2.26;ReadPosRankSum=0.655;SOR=1.076	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,15:122:99:0|1:97243981_C_T:308,0,4417:97243981	10	0	10	1
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|1:110,70:180:99:0|1:97513219_T_C:2608,0,4408:97513219	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|1:113,73:186:99:0|1:97513219_T_C:2725,0,4505:97513219	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|1:124,87:211:99:0|1:97513244_G_T:3279,0,4884:97513244	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|1:127,90:217:99:0|1:97513244_G_T:3396,0,5016:97513244	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|1:126,90:216:99:0|1:97513244_G_T:3399,0,4994:97513244	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|1:137,97:234:99:0|1:97513268_C_T:3650,0,5426:97513268	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	0/1:151,85:236:99:.:.:1778,0,5822	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|1:139,100:239:99:0|1:97513268_C_T:3730,0,5514:97513268	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|1:137,109:246:99:0|1:97513268_C_T:3941,0,5383:97513268	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	0/1:92,51:143:99:1075,0,2270	0	0	20	1
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	0/1:4,6,0:10:83:120,0,83,132,101,234	3	9	6	2
chr2	113132707	113132707	G	A	exonic	IL1RN	.	nonsynonymous SNV	IL1RN:NM_173842:exon4:c.G370A:p.A124T	Interleukin 1 receptor antagonist deficiency, Autosomal recessive	.	0	1505	17	0	0	17	0.00561612	.	.	448759	IL1RN-related_disorder|Sterile_multifocal_osteomyelitis_with_periostitis_and_pustulosis|Autoinflammatory_syndrome|not_provided	.|MONDO:MONDO:0013021,MedGen:C2748507,OMIM:612852,Orphanet:210115|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.4	T	0.019	B	0.019	B	0.009	N	1.000	N	-1.23	N	3.02	T	-0.937	T	0.004	T	0.108	-0.636	1.189	-0.802	-0.748	-0.271	6.543	0.029	.	0.0009	0.00479233	0.0030	0.0011	0.0007	0.0143	0	0.0009	0.0033	0.0094	0.0026326	407	154602	rs45507693	0.0014	0.0014	0.0012	0.0016	0.0123	0.0013	0.0013	0.0100	0.0095	0.0009	0.0007	0.0047	0.0107	0	0.0123	0.0004	0.0030	0.0081	0.0013	0.0013	0.0011	0.0014	0.0106	0.0011	0.0011	0.0084	0.0076	0.0008	0	0.0010	0.0052	0.0106	0	0.0068	0.0005	0.0028	0.0066	1.0	0.00964	T	1.0	0.01155	T	0.002	0.15914	B	0.006	0.18783	B	0.008667	0.30726	N	0.390178	0.999912	0.19599	N	-1.63	0.00401	N	3.02	0.08986	T	2.52	0.00229	N	0.05	0.02179	-0.9366	0.43149	T	0.004	0.01400	T	10	0.008407414	0.00191	T	.	.	.	0.029	0.06676	.	.	0.242825505644	0.23883	0.5592029854060361	0.55847	0.0529077588486	0.05834	0.289524585009	0.08853	T	0.125073	0.45053	T	-0.703256	0.00035	T	-0.769981	0.02768	T	1.88654503290309e-05	0.00000	T	0.157184	0.01392	T	0.075816624	0.17107	0.05437313	0.09340	0.113247275	0.26747	0.058866408	0.10952	-0.639	0.01064	T	0.039757481599584636	0.00332	0.061	0.02733	B	.;.;.;.;.	.;.;.;.;.	-0.273803	0.02735	0.363	0.59931702614615556	0.06341	0.01521	0.05017	N	AEFBI	0.066869	0.13117	N	-1.64792111267281	0.01044	0.04527927	-1.48801726331597	0.02442	0.1123296	0.991469403513662	0.32498	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.8	-0.802	0.10340	-0.103000	0.10909	-0.086000	0.12117	-1.234000	0.01323	0.303000	0.25352	0.000000	0.08366	0.041000	0.14368	0.5105:0.0:0.3735:0.116	6.543	0.21588	591	0.68823	.;.;.;.;.	.	.	.	.	.	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	1608.98	42	chr2	113132707	.	G	A	1608.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=823;ExcessHet=0.0000;FS=1.463;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=-1.673e+00;SOR=0.847	GT:AD:DP:GQ:PL	0/1:60,63:123:99:1623,0,1404	20	0	1	0
chr2	127632260	127632260	G	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon38:c.G5186A:p.R1729Q,	.	.	151	1351	19	1	0	21	0.00771208	.	.	2812301	not_provided|MYO7B-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.798	P	0.173	B	0.003	N	0.968	D	1.89	L	-3.11	D	0.432	D	0.626	D	0.163	3.209	16.75	4.74	2.180	4.018	8.511	0.440	0.187200906884	0.0033	0.00199681	0.0054	0.0015	0.0027	0	0.0018	0.0085	0.0053	0.0017	0.0047994	742	154602	rs190699169	0.0066	0.0066	0.0067	0.0065	0.0077	0.0065	0.0065	0.0076	0.0075	0.0012	0.0049	0.0096	0	0.0010	0.0061	0.0077	0.0056	0.0016	0.0043	0.0043	0.0046	0.0040	0.0064	0.0040	0.0039	0.0059	0.0057	0.0016	0.0088	0.0052	0.0121	0	0.0005	0.0068	0.0064	0.0057	0.0004	0.005	0.63226	D	0.032	0.53426	D	0.798	0.44840	P	0.173	0.35463	B	0.003113	0.35419	N	0.235061	0.85526	0.38633	D	2.07	0.56829	M	-3.11	0.92721	D	-2.94	0.61435	D	0.499	0.53445	0.432	0.89566	D	0.626	0.86846	D	10	0.010098875	0.00226	T	0.187201	0.85924	D	0.440	0.74377	.	.	0.705268275649	0.70270	0.25544587263230817	0.25458	0.477577091457	0.46870	0.379588216543	0.22199	T	0.265597	0.86471	T	-0.291825	0.09455	T	-0.187117	0.55861	T	0.0249095812512221	0.01261	T	0.960204	0.88252	D	0.47223198	0.65427	0.26433262	0.52251	0.47223198	0.65428	0.26433262	0.52250	-7.162	0.55208	T	.	.	0.105	0.19114	B	.;.;.	.;.;.	4.540858	0.71374	25.7	0.99904668835716104	0.97576	0.62386	0.31766	D	AEFDBCI	0.361771	0.45127	N	0.232212449699079	0.52766	3.448751	0.260344191376282	0.53239	3.493936	0.999974361142931	0.50053	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	4.74	4.74	0.59717	3.386000	0.52232	8.660000	0.77968	0.614000	0.49286	0.995000	0.38783	1.000000	0.68203	0.902000	0.43815	0.1827:0.0:0.8173:0.0	8.511	0.32376	946	0.12043	MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 domain;MyTH4 domain|MyTH4 domain|MyTH4 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	1804.11	38	chr2	127632260	.	G	A	1804.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.71;DP=809;ExcessHet=0.1072;FS=2.367;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=1.29;SOR=0.481	GT:AD:DP:GQ:PL	0/1:29,36:65:99:902,0,636	19	0	2	0
chr2	130144935	130144935	C	G	exonic	CCDC74B	.	nonsynonymous SNV	CCDC74B:NM_001258307:exon1:c.G62C:p.R21P	.	.	437	1084	1	0	0	1	0.000461042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.933	D	.	.	0.771	D	1.61	L	1.69	T	-0.544	T	0.226	T	0.461	1.413	10.66	2.22	1.244	1.517	7.964	0.106	0.371359056531	.	.	4.877e-05	0	0.0002	0	0	4.228e-05	0	0	3.84e-05	1	26028	rs753149316	3.854e-05	3.762e-05	3.726e-05	3.985e-05	0.0005	3.006e-05	2.726e-05	0.0001	8.073e-05	0	0.0002	0	0	2.067e-05	0.0005	3.351e-05	7.098e-05	4.063e-05	3.958e-05	3.941e-05	1.289e-05	6.755e-05	0.0002	1.721e-05	1.133e-05	5.297e-05	2.838e-05	0	0	0.0002	0	0	0	0	2.948e-05	0.0005	0	0.015	0.91255	D	0.014	0.67890	D	0.998	0.73220	D	0.9	0.66815	P	.	.	.	.	0.771154	0.34153	D	1.04	0.26193	L	1.69	0.54347	T	-1.69	0.50502	N	0.39	0.53357	-0.5443	0.67001	T	0.226	0.59007	T	9	0.2609082	0.43544	T	0.371359	0.92754	D	0.106	0.30130	0.263	0.20788	0.70075097299	0.69816	0.13153166705836078	0.13078	3.14057088863	0.99419	0.856402039528	0.90576	D	0.002982	0.02381	T	-0.259713	0.12934	T	-0.304859	0.44210	T	0.214567938027719	0.21189	T	0.787021	0.46271	T	0.34994414	0.57063	0.33873007	0.59647	0.34994414	0.57063	0.33873007	0.59646	-3.557	0.17239	T	.	.	0.163	0.55555	B	.;.;.;.;.;.	.;.;.;.;.;.	3.639547	0.51593	23.1	0.98816302902805231	0.46704	0.29910	0.23945	N	AEFDGBHCI	0.174576	0.30171	N	0.0403720311377805	0.43701	2.657903	-0.12856029075901	0.34245	1.96763	0.944593774444021	0.27622	0.660085	0.49399	0	0.662677	0.63036	0	0.673471	0.61138	0	0.444512	0.06955	0	.	.	2.22	2.22	0.27116	1.489000	0.35170	.	.	0.304000	0.19002	0.966000	0.33990	0.080000	0.22369	0.002000	0.04165	0.0:1.0:0.0:0.0	7.964	0.29248	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	1346.98	33	chr2	130144935	.	C	G	1346.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.50;DP=844;ExcessHet=0.0000;FS=9.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=51.70;MQRankSum=0.605;QD=19.81;ReadPosRankSum=-3.920e-01;SOR=0.132	GT:AD:DP:GQ:PL	0/1:21,47:68:99:1361,0,388	20	0	1	0
chr2	130657714	130657714	C	T	exonic	POTEJ	.	nonsynonymous SNV	POTEJ:NM_001277083:exon15:c.C2954T:p.P985L,	.	.	74	1431	17	0	0	17	0.00590483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	.	.	0.978	D	3.485	M	2.73	T	-1.005	T	0.099	T	0.209	1.406	10.63	0.736	0.132	5.282	6.920	0.181	.	.	0.00319489	0.0132	0.0015	0.0078	0	0.0020	0.0050	0.0408	0.0317	0.0007684	20	26028	rs552095587	0.0015	0.0015	0.0011	0.0019	0.0128	0.0015	0.0015	0.0121	0.0119	0.0003	0.0007	0.0063	2.632e-05	6.057e-05	0.0082	0.0006	0.0020	0.0128	0.0011	0.0011	0.0011	0.0011	0.0126	0.0009	0.0009	0.0097	0.0087	0.0005	0	0.0007	0.0068	0	0	0.0037	0.0007	0.0006	0.0126	0.0	0.91255	D	0.004	0.74150	D	.	.	.	.	.	.	.	.	.	.	0.977524	0.39375	D	3.655	0.94224	H	2.73	0.11839	T	-8.19	0.96809	D	0.324	0.36464	-1.0053	0.28368	T	0.099	0.36882	T	7	0.012013733	0.00260	T	.	.	.	0.181	0.45247	.	.	0.462111473445	0.45839	0.02712786375202906	0.02662	.	.	.	.	.	0.598495	0.87097	D	-0.49592	0.00603	T	-0.472807	0.25214	T	0.0969079647454294	0.12013	T	0.974802	0.91047	D	0.36426046	0.58158	0.28347903	0.54341	0.36426046	0.58159	0.28347903	0.54340	-8.023	0.61227	D	.	.	0.379	0.58352	A	.	.	2.518707	0.32546	19.07	0.98912866454171977	0.48399	0.52235	0.29083	D	AEFI	.	.	.	-0.170624640995066	0.34360	1.960361	-0.423347139363444	0.24314	1.330746	0.00202939160945885	0.09096	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.736	0.736	0.17456	5.537000	0.66897	.	.	0.196000	0.17891	1.000000	0.71638	1.000000	0.68203	0.014000	0.10232	0.0:0.9999:0.0:1.0E-4	6.920	0.23561	964	0.07719	.	.	.	.	.	.	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	354.01	17	chr2	130657714	.	C	T	354.01	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.546;DP=387;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0269;MLEAC=1;MLEAF=0.024;MQ=36.54;MQRankSum=0.901;QD=13.11;ReadPosRankSum=-4.690e-01;SOR=0.404	GT:AD:DP:GQ:PL	0/1:16,11:27:99:368,0,525	20	0	1	0
chr2	148489771	148489771	G	A	exonic	MBD5	.	nonsynonymous SNV	MBD5:NM_001378120:exon11:c.G4139A:p.R1380Q	Mental retardation, autosomal dominant 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	201237	not_provided|Intellectual_disability,_autosomal_dominant_1	MedGen:C3661900|MONDO:MONDO:0007974,MedGen:C1969562,OMIM:156200,Orphanet:228402	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.998	D	0.852	P	0.000	D	0.681	D	0.695	N	0.85	T	-0.647	T	0.182	T	0.726	3.755	19.06	5.55	2.894	8.220	19.698	0.289	0.0142711577052	7.7e-05	.	8.246e-06	0	0	0	0	1.498e-05	0	0	1.94e-05	3	154602	rs368605084	5.951e-05	5.951e-05	6.398e-05	5.5e-05	7.374e-05	4.882e-05	4.561e-05	6.059e-05	5.568e-05	5.974e-05	4.472e-05	0	0	0	0	7.374e-05	1.656e-05	0	5.259e-05	5.254e-05	8.996e-05	1.346e-05	0.0001	2.558e-05	1.831e-05	4.765e-05	3.339e-05	2.415e-05	0	0	0	0	0	0	0.0001	0	0	0.007	0.65419	D	0.065	0.44702	T	0.994	0.73220	D	0.795	0.60758	P	0.000052	0.53742	D	0.000000	0.680516	0.33229	D	0.975	0.24501	L	0.85	0.47815	T	-0.06	0.13035	N	0.466	0.53357	-0.6467	0.62857	T	0.182	0.53041	T	10	0.3197819	0.49360	T	0.014271	0.34274	T	0.289	0.60808	.	.	0.369524611565	0.36568	0.35354009091031025	0.35268	0.180814215642	0.20334	0.551516890526	0.46071	T	0.021771	0.16896	T	-0.0680683	0.41635	T	-0.154024	0.58887	T	0.213599008840841	0.21140	T	0.929107	0.73907	D	0.17577864	0.38455	0.13728413	0.32819	0.17577864	0.38455	0.13728413	0.32818	-2.961	0.09767	T	.	.	0.133	0.29477	B	.;.;.;.	.;.;.;.	3.730385	0.53359	23.4	0.99930455779662464	0.99334	0.99445	0.96118	D	AEFDGBI	0.668515	0.63627	D	0.68533199701171	0.78670	6.918821	0.743830051471863	0.85694	8.658044	0.999991029459613	0.74766	0.740787	0.97801	0	0.633656	0.55848	0	0.767554	0.98243	0	0.491896	0.07777	0	.	.	5.55	5.55	0.83298	5.613000	0.67369	9.999000	0.83031	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.698	0.96034	649	0.63102	.;.;.;.	.	.	.	.	.	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	2619.98	34	chr2	148489771	.	G	A	2619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.962;DP=985;ExcessHet=0.0000;FS=1.616;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.59;ReadPosRankSum=-2.480e-01;SOR=0.582	GT:AD:DP:GQ:PL	0/1:121,105:226:99:2634,0,3035	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	1/2:2,20,5,0:27:52:573,79,52,414,0,468,565,125,476,613	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	1/2:2,20,5,0:27:52:573,79,52,414,0,468,565,125,476,613	1	6	10	0
chr2	159350063	159350063	C	T	exonic	BAZ2B	.	nonsynonymous SNV	BAZ2B:NM_001289975:exon27:c.G4400A:p.S1467N	.	.	431	977	111	3	0	117	0.0564944	.	.	719335	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.004	B	0.002	B	0.115	U	0.995	N	-0.41	N	3.27	T	-0.986	T	0.010	T	0.055	0.894	8.631	4.99	2.941	0.756	6.597	0.084	.	0.0019	0.00738818	0.0080	0.0003	0.0025	0.0002	0	0.0028	0.0167	0.0440	0.0069145	1069	154602	rs143966878	0.0045	0.0045	0.0029	0.0060	0.0460	0.0044	0.0043	0.0448	0.0443	0.0002	0.0023	0.0039	0.0001	7.488e-05	0.0279	0.0017	0.0054	0.0460	0.0030	0.0030	0.0023	0.0037	0.0456	0.0028	0.0027	0.0407	0.0388	0.0004	0	0.0031	0.0046	0.0002	9.418e-05	0.0136	0.0021	0.0052	0.0456	0.327	0.13262	T	0.439	0.13365	T	0.0	0.12183	B	0.001	0.06944	B	0.114738	0.19263	U	0.365080	0.994617	0.23480	N	1.01	0.25309	L	3.27	0.06602	T	-0.06	0.07882	N	0.109	0.09490	-0.9856	0.33687	T	0.010	0.03765	T	10	0.0018053651	0.00024	T	.	.	.	0.084	0.24469	.	.	0.15499578495	0.15088	0.2681369963440382	0.26726	0.0366816850506	0.03882	0.305863142014	0.11283	T	0.01094	0.09820	T	-0.687278	0.00043	T	-0.726423	0.04491	T	0.00321575579987019	0.00034	T	0.846915	0.52723	T	0.039753538	0.05547	0.044830933	0.05896	0.039753538	0.05546	0.044830933	0.05896	-3.934	0.22948	T	.	.	0.076	0.05890	B	.;.	.;.	2.952919	0.39297	20.9	0.91316774009537693	0.20578	0.71095	0.34867	D	AEFDGBCI	0.086729	0.17585	N	-0.306285464823662	0.28908	1.598527	-0.0733311059405021	0.36497	2.124746	0.999999826993591	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.87	4.99	0.65942	1.077000	0.30353	2.750000	0.34528	0.599000	0.40250	0.972000	0.34453	0.782000	0.26788	0.944000	0.48669	0.0:0.6678:0.1496:0.1827	6.597	0.21871	550	0.72197	.;.	.	.	.	.	.	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	6118.11	34	chr2	159350063	.	C	T	6118.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=1127;ExcessHet=0.1072;FS=4.027;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.370e-01;SOR=0.957	GT:AD:DP:GQ:PL	0/1:117,136:253:99:3841,0,3111	19	0	2	0
chr2	165137933	165137933	C	T	exonic	SCN3A	.	nonsynonymous SNV	SCN3A:NM_001081676:exon15:c.G2190A:p.M730I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.954	P	0.912	D	0.000	D	1.000	D	2.705	M	-4.32	D	1.076	D	0.951	D	0.917	4.072	20.9	5.86	2.937	7.776	20.563	0.780	0.323136892332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.052e-06	4.085e-06	0	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.084	0.41239	T	0.954	0.54400	P	0.701	0.64797	P	0.000000	0.84330	D	0.000000	1	0.81001	D	3.26	0.89945	M	-4.32	0.97218	D	-2.86	0.60982	D	0.785	0.78167	1.076	0.98764	D	0.951	0.98412	D	10	0.85536575	0.84731	D	0.323137	0.91534	D	0.780	0.92664	0.496	0.58520	0.771829042516	0.76973	0.870702476717794	0.87036	0.830550599152	0.67603	0.754951298237	0.75178	T	0.793875	0.94673	D	0.54092	0.95477	D	0.539217	0.95409	D	0.994473516941071	0.85785	D	0.892211	0.62852	D	0.6821321	0.77084	0.761022	0.85881	0.6821321	0.77086	0.761022	0.85881	-9.813	0.72948	D	.	.	0.955	0.90256	P	.;.;.;.;.	.;.;.;.;.	4.504972	0.70489	25.5	0.99591884360929706	0.73631	0.89705	0.50342	D	AEFDGBHCI	0.928369	0.91246	D	0.698259820597052	0.79516	7.094541	0.749335837147178	0.86105	8.784813	0.999999999999905	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.86	5.86	0.93936	7.905000	0.86479	7.705000	0.66497	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.563	0.99337	856	0.34373	Ion transport domain;.;Ion transport domain;.;Ion transport domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1545.98	34	chr2	165137933	.	C	T	1545.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.032;DP=842;ExcessHet=0.0000;FS=1.286;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.60;ReadPosRankSum=-6.970e-01;SOR=0.553	GT:AD:DP:GQ:PL	0/1:99,62:161:99:1560,0,2699	20	0	1	0
chr2	173239483	173239483	G	A	exonic	MAP3K20	.	nonsynonymous SNV	MAP3K20:NM_016653:exon16:c.G1346A:p.G449E,	Split-foot malformation with mesoaxial polydactyly, Autosomal recessive	.	435	1081	6	0	0	6	0.00276753	.	.	732943	not_provided|MAP3K20-related_disorder	MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.01	D	0.618	P	0.142	B	0.000	D	1.000	D	1.04	L	-1.16	T	-0.470	T	0.284	T	0.505	2.854	15.51	4.57	1.423	6.256	14.498	0.401	0.0592100354921	0.0008	0.000199681	0.0006	0	0.0007	0	0	0.0010	0.0023	0	0.0006209	96	154602	rs201693932	0.0006	0.0006	0.0006	0.0006	0.0078	0.0006	0.0006	0.0060	0.0054	0.0003	0.0009	0.0081	0	0	0.0078	0.0004	0.0014	7.021e-05	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0007	0.0005	0.0002	0	0.0010	0.0084	0	0	0	0.0004	0.0014	0.0002	0.001	0.78490	D	0.008	0.67890	D	0.618	0.39878	P	0.142	0.33681	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	.	.	.	-1.16	0.78082	T	-2.58	0.55662	D	0.408	0.44857	-0.4698	0.69732	T	0.284	0.65596	T	10	0.00909394	0.00206	T	0.05921	0.67586	D	0.401	0.71479	.	.	0.551961605406	0.54854	0.38818921169999204	0.38733	0.0977657556297	0.11029	0.774240851402	0.78060	T	0.119179	0.44052	T	-0.183627	0.23198	T	-0.109349	0.62664	T	0.0563246215232021	0.06577	T	0.813219	0.46599	T	0.5986215	0.72617	0.6721372	0.80758	0.5986215	0.72618	0.6721372	0.80759	-4.176	0.26403	T	.	.	0.684	0.72898	P	.;.	.;.	3.722095	0.53200	23.3	0.99152841760859378	0.53875	0.92419	0.55668	D	AEFBCI	0.772385	0.70672	D	0.209439392276359	0.51656	3.34518	0.321019200905475	0.56778	3.841552	0.999999971273423	0.74766	0.646311	0.45356	0	0.378119	0.05977	1	0.602189	0.34648	0	0.699875	0.68795	0	.	.	5.45	4.57	0.55860	6.360000	0.73005	7.516000	0.59690	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0707:0.0:0.9293:0.0	14.498	0.67286	869	0.31655	.;.	.	.	.	.	.	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	1585.98	36	chr2	173239483	.	G	A	1585.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=855;ExcessHet=0.0000;FS=1.337;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.942;SOR=0.660	GT:AD:DP:GQ:PL	0/1:74,66:140:99:1600,0,1756	20	0	1	0
chr2	178574997	178574997	A	G	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon154:c.T43940C:p.V14647A	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	D	0.625	P	0.266	B	.	.	1.000	D	0.68	N	-0.21	T	-0.776	T	0.183	T	0.222	1.748	11.80	4.52	0.956	9.281	12.312	0.236	0.0339149520932	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1275870840	1.369e-06	1.368e-06	2.724e-06	0	0.0003	2.3e-07	9e-08	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.17239	T	.	.	.	0.309	0.32767	B	0.197	0.36707	B	.	.	.	.	0.999737	0.49283	D	0.21	0.09513	N	-0.21	0.66294	T	-2.33	0.52776	N	0.309	0.56489	-0.7760	0.56526	T	0.183	0.53148	T	9	0.22134233	0.38857	T	0.033915	0.55318	D	0.236	0.53931	0.511	0.60846	0.475895305069	0.47218	.	.	0.179783107813	0.20224	0.612806558609	0.54713	T	.	.	.	-0.0818191	0.39419	T	-0.355304	0.38595	T	0.303655345588094	0.25154	T	0.69713	0.30670	T	.	.	.	.	.	.	.	.	-1.79	0.02479	T	.	.	0.126	0.26825	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.503706	0.32326	19.01	0.87681358583758373	0.17404	0.94283	0.60675	D	AEFBHCIJ	.	.	.	0.207820504303587	0.51576	3.338	0.33177987268098	0.57415	3.907255	0.999575145248909	0.40495	0.553676	0.25195	0	0.546412	0.12157	0	0.670488	0.60580	0	0.620846	0.47308	0	.	.	5.69	4.52	0.54797	9.268000	0.94851	.	.	0.756000	0.94297	1.000000	0.71638	0.720000	0.26347	0.987000	0.62547	0.8733:0.0:0.0:0.1267	12.312	0.54255	436	0.80373	.;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|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	1	0	0	0	0	0	0	0.02381	2319.98	112	chr2	178574997	.	A	G	2319.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.38;DP=1828;ExcessHet=0.0000;FS=0.608;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.47;ReadPosRankSum=0.218;SOR=0.613	GT:AD:DP:GQ:PL	0/1:66,84:150:99:2334,0,1788	20	0	1	0
chr2	178618036	178618036	C	T	exonic	TTN	.	nonsynonymous SNV	TTN:NM_003319:exon81:c.G20120A:p.R6707Q	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	YES	1	1490	30	1	0	32	0.0106242	.	.	56175	not_specified|Tibial_muscular_dystrophy|Atrial_fibrillation|Primary_dilated_cardiomyopathy|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|not_provided	MedGen:CN169374|MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.574	P	0.195	B	.	.	1.000	D	1.045	L	0.44	T	-0.905	T	0.094	T	0.318	1.514	11.01	4.85	1.560	3.740	15.227	0.113	0.032528423721	0.0034	0.00139776	0.0030	0.0008	0.0011	0	0.0005	0.0047	0.0078	0.0012	0.002956	457	154602	rs72677233	0.0028	0.0028	0.0027	0.0028	0.0123	0.0027	0.0027	0.0100	0.0092	0.0010	0.0019	0.0338	2.534e-05	0.0003	0.0123	0.0022	0.0048	0.0018	0.0029	0.0029	0.0030	0.0028	0.0065	0.0027	0.0026	0.0055	0.0051	0.0003	0	0.0065	0.0268	0	0.0003	0.0102	0.0029	0.0090	0.0025	0.041	0.41915	D	.	.	.	0.574	0.38693	P	0.195	0.36592	B	.	.	.	.	0.982686	0.40539	D	1.19	0.30124	L	0.44	0.56609	T	-2.48	0.57435	N	0.357	0.57177	-0.9047	0.47481	T	0.094	0.35658	T	9	0.005768299	0.00129	T	0.032528	0.54329	D	0.113	0.31778	.	.	0.17948927462	0.17512	.	.	0.150698551403	0.16997	0.373202860355	0.21290	T	.	.	.	-0.424277	0.01607	T	-0.385272	0.35105	T	0.0160674029560302	0.00385	T	0.889111	0.62289	D	.	.	.	.	.	.	.	.	-5.769	0.47923	T	.	.	0.171	0.37482	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.551671	0.33031	19.22	0.93038762856172696	0.22643	0.83396	0.42516	D	AEFBI	0.432529	0.49437	N	-0.0607603011833923	0.39122	2.302131	0.0403537369006014	0.41609	2.502593	0.999961319595874	0.48965	0.562547	0.31514	0	0.653731	0.59785	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.73	4.85	0.62375	2.993000	0.49114	.	.	-0.202000	0.08738	1.000000	0.71638	1.000000	0.68203	0.704000	0.34264	0.0:0.9323:0.0:0.0677	15.227	0.73050	433	0.80627	.;.;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;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	1	0	0	0	0	1	0	0.02381	2933.98	33	chr2	178618036	.	C	T	2933.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.11;DP=935;ExcessHet=0.0000;FS=1.606;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.98;ReadPosRankSum=-1.440e-01;SOR=0.812	GT:AD:DP:GQ:PL	0/1:117,109:226:99:2948,0,3025	20	0	1	0
chr2	178729380	178729380	G	C	exonic	TTN	.	nonsynonymous SNV	TTN:NM_133378:exon61:c.C15044G:p.T5015S	Cardiomyopathy, dilated, 1G;Cardiomyopathy, familial hypertrophic, 9;Muscular dystrophy, limb-girdle, type 2J, Autosomal recessive;Myopathy, early-onset, with fatal cardiomyopathy, Autosomal recessive;Myopathy, proximal, with early respiratory muscle involvement;Tibial muscular dystrophy, tardive, Autosomal dominant	.	1	1489	32	0	0	32	0.0106312	.	.	55809	Tibial_muscular_dystrophy|not_provided|Dilated_cardiomyopathy_1G|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2J|Myopathy,_myofibrillar,_9,_with_early_respiratory_failure|not_specified|Arrhythmogenic_right_ventricular_cardiomyopathy|Atrial_fibrillation|Primary_dilated_cardiomyopathy|Cardiovascular_phenotype|Early-onset_myopathy_with_fatal_cardiomyopathy|Cardiomyopathy	MONDO:MONDO:0010870,MedGen:C1838244,OMIM:600334,Orphanet:609|MedGen:C3661900|MONDO:MONDO:0011400,MedGen:C1858763,OMIM:604145,Orphanet:154|MONDO:MONDO:0012127,MedGen:C1837342,OMIM:608807,Orphanet:140922|MONDO:MONDO:0011362,MedGen:C1863599,OMIM:603689,Orphanet:178464,Orphanet:34521|MedGen:CN169374|MONDO:MONDO:0016587,MeSH:D019571,MedGen:C0349788,Orphanet:247|EFO:EFO_0000275,Human_Phenotype_Ontology:HP:0001715,Human_Phenotype_Ontology:HP:0005110,Human_Phenotype_Ontology:HP:0005179,MONDO:MONDO:0004981,MedGen:C0004238|EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,Human_Phenotype_Ontology:HP:0001725,Human_Phenotype_Ontology:HP:0005159,Human_Phenotype_Ontology:HP:0200130,MONDO:MONDO:0005021,MeSH:D002311,MedGen:C0007193,Orphanet:217604|MedGen:CN230736|MONDO:MONDO:0012714,MedGen:C2673677,OMIM:611705,Orphanet:289377|Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	.	.	1.000	D	0.31	N	-0.14	T	-1.025	T	0.112	T	0.158	1.003	9.094	3.03	0.349	1.571	4.760	0.065	0.0101612963571	0.0034	0.000599042	0.0030	0.0008	0.0010	0	0.0005	0.0048	0.0067	0.0008	0.0029042	449	154602	rs72648949	0.0028	0.0028	0.0027	0.0028	0.0129	0.0027	0.0027	0.0105	0.0096	0.0010	0.0014	0.0344	0	0.0004	0.0129	0.0023	0.0047	0.0013	0.0026	0.0026	0.0028	0.0024	0.0039	0.0024	0.0023	0.0031	0.0028	0.0003	0	0.0039	0.0277	0	0.0005	0.0102	0.0030	0.0062	0.0015	0.572	0.06145	T	.	.	.	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.81001	D	.	.	.	-0.14	0.65006	T	-1.27	0.31981	N	0.196	0.22486	-1.0253	0.21985	T	0.112	0.40099	T	9	0.0057101846	0.00127	T	0.010161	0.26368	T	0.065	0.18881	0.409	0.44395	0.139678290688	0.13603	.	.	0.0753460736105	0.08448	0.339321732521	0.16337	T	.	.	.	-0.469353	0.00858	T	-0.45002	0.27695	T	0.00495222478460801	0.00053	T	0.361564	0.11199	T	.	.	.	.	.	.	.	.	-2.424	0.05282	T	.	.	0.076	0.05890	B	.;.;.;.	.;.;.;.	1.283339	0.16833	12.79	0.78433591167916983	0.12299	0.87265	0.46752	D	AEFBI	0.559547	0.56832	D	-0.37346291618185	0.26418	1.441649	-0.204710376662953	0.31366	1.774468	0.937735070618592	0.27311	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.92	3.03	0.34070	1.608000	0.36458	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.607000	0.31564	0.0671:0.2164:0.4546:0.2618	4.760	0.12476	343	0.85802	.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	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	1978.98	46	chr2	178729380	.	G	C	1978.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.70;DP=939;ExcessHet=0.0000;FS=1.226;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=0.278;SOR=0.687	GT:AD:DP:GQ:PL	0/1:89,74:163:99:1993,0,2380	20	0	1	0
chr2	178834397	178834397	C	T	exonic	CCDC141	.	nonsynonymous SNV	CCDC141:NM_173648:exon24:c.G4369A:p.V1457I,	.	.	427	1087	7	1	0	9	0.00412277	.	.	697193	not_provided|Hypogonadotropic_hypogonadism_7_with_or_without_anosmia	MedGen:C3661900|MONDO:MONDO:0007794,MedGen:C0342384,OMIM:146110,Orphanet:432	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.87	T	0.973	D	0.73	P	.	.	1.000	D	0.78	N	-0.34	T	-0.832	T	0.182	T	0.119	1.301	10.26	5.71	2.700	2.267	15.657	0.224	0.030820945119	.	0.00159744	0.0033	0.0026	0	0	0.0043	0.0086	0.0052	0.0001	0.0012936	200	154602	rs145610810	0.0067	0.0063	0.0067	0.0066	0.0077	0.0065	0.0065	0.0076	0.0075	0.0010	0.0024	0.0101	2.798e-05	0.0040	0.0049	0.0077	0.0051	0.0007	0.0048	0.0048	0.0053	0.0044	0.0081	0.0046	0.0044	0.0075	0.0073	0.0016	0.0099	0.0018	0.0115	0	0.0032	0.0068	0.0081	0.0024	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.976104	0.25394	N	.	.	.	.	.	.	.	.	.	.	.	-0.8320	0.53172	T	0.182	0.52950	T	9	0.007324159	0.00167	T	0.030821	0.53045	D	.	.	.	.	.	.	.	.	.	.	0.324079394341	0.14038	T	.	.	.	-0.4752	0.00790	T	-0.447406	0.27983	T	0.0473766286087493	0.05031	T	0.664534	0.27348	T	.	.	.	.	.	.	.	.	-2.234	0.04209	T	.	.	0.095	0.14888	B	.	.	3.077892	0.41394	21.3	0.78844022725712681	0.12477	0.83655	0.42758	D	AEFI	0.450286	0.50475	N	0.251656559044796	0.53721	3.539776	0.335219438986826	0.57623	3.928595	0.99953582967514	0.40238	0.638212	0.43195	0	0.670034	0.63936	0	0.565031	0.19037	0	0.613276	0.41899	0	.	.	5.71	5.71	0.89031	2.330000	0.43544	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.948000	0.49324	0.0:0.8247:0.1753:0.0	15.657	0.76905	368	0.84463	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1397.98	36	chr2	178834397	.	C	T	1397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=823;ExcessHet=0.0000;FS=20.458;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.57;ReadPosRankSum=-1.966e+00;SOR=2.022	GT:AD:DP:GQ:PL	0/1:51,52:103:99:1412,0,1156	20	0	1	0
chr2	181678605	181678605	G	A	exonic	NEUROD1	.	nonsynonymous SNV	NEUROD1:NM_002500:exon2:c.C256T:p.P86S,	Maturity-onset diabetes of the young 6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.999	D	0.992	D	0.000	D	1.000	D	2.455	M	-3.83	D	0.900	D	0.920	D	0.544	5.153	32	6.16	2.937	9.804	19.424	0.571	0.23621219823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.29688	T	0.03	0.54159	D	0.999	0.77913	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.41	0.69639	M	-3.83	0.95794	D	-6.54	0.91786	D	0.445	0.48319	0.900	0.95672	D	0.920	0.97355	D	10	0.63345855	0.68648	D	0.236212	0.88489	D	0.571	0.82573	0.235	0.16457	0.990118346493	0.99000	0.24592295442231019	0.24506	1.34341880559	0.83908	0.798762917519	0.81775	T	0.858354	0.96835	D	0.221899	0.75956	D	0.0809657	0.75644	D	0.995564997196198	0.87656	D	0.859414	0.55137	D	0.46375233	0.64904	0.6766599	0.81011	0.46375233	0.64905	0.6766599	0.81012	-13.685	0.91988	D	0.4755013963890582	0.55515	0.997	0.96595	P	.	.	5.357455	0.89851	31	0.9993409283731095	0.99535	0.01845	0.05712	N	AEFBHCI	0.960118	0.98077	D	0.932416457991249	0.93255	11.91997	0.93804378764165	0.97027	15.48257	0.999999999999839	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	6.16	6.16	0.99302	10.003000	0.99689	11.876000	0.98705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:1.0:0.0	19.424	0.94724	854	0.34840	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1446.98	90	chr2	181678605	.	G	A	1446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=1484;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=-9.800e-01;SOR=0.727	GT:AD:DP:GQ:PL	0/1:81,55:136:99:1461,0,2247	20	0	1	0
chr2	185808588	185808588	A	C	exonic	FSIP2	.	nonsynonymous SNV	FSIP2:NM_173651:exon17:c.A19282C:p.N6428H,	.	.	439	1067	13	3	0	19	0.0088249	.	.	3196224	FSIP2-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	0.217	N	1.000	N	0.895	L	0.75	T	-0.996	T	0.060	T	0.23	0.663	7.553	-5.27	-1.184	-0.117	6.414	0.044	.	0.0014	0.00159744	0.0017	0.0004	0.0016	0	0.0002	0.0022	0.0056	0.0013	0.0016041	248	154602	rs190235420	0.0018	0.0018	0.0018	0.0019	0.0110	0.0018	0.0018	0.0088	0.0080	0.0010	0.0016	0	0	0.0001	0.0110	0.0020	0.0022	0.0013	0.0017	0.0017	0.0018	0.0016	0.0033	0.0015	0.0015	0.0026	0.0023	0.0005	0.0011	0.0033	0	0	0	0.0238	0.0025	0.0028	0.0004	0.005	0.63226	D	0.033	0.53072	D	.	.	.	.	.	.	0.217131	0.16225	N	0.581478	1	0.08975	N	0.69	0.16971	N	0.75	0.50192	T	-2.93	0.61284	D	0.246	0.48042	-0.9960	0.31028	T	0.060	0.25090	T	8	0.00658226	0.00149	T	.	.	.	0.044	0.11924	.	.	0.0551355673512	0.04727	0.27061002625502806	0.26974	.	.	0.335969865322	0.15834	T	0.04731	0.27685	T	-0.527436	0.00398	T	-0.535949	0.18696	T	0.0240061846028544	0.01146	T	0.559944	0.20130	T	0.17522682	0.38369	0.14437917	0.34279	0.17522682	0.38369	0.14437917	0.34278	-5.741	0.44057	T	.	.	0.115	0.22969	B	.;.	.;.	-0.529962	0.01773	0.135	0.91679306035603392	0.20970	0.02649	0.07255	N	AEFI	.	.	.	-1.01148027330222	0.08364	0.3919461	-1.19399222315645	0.06010	0.287996	4.20823125100431E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.22	-5.27	0.02551	-0.119000	0.10649	-0.285000	0.10238	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.033000	0.13494	0.3431:0.2636:0.3933:0.0	6.414	0.20908	756	0.51065	Fibrous sheath-interacting protein 2, C-terminal;Fibrous sheath-interacting protein 2, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1479.98	73	chr2	185808588	.	A	C	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.966;DP=938;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.10;ReadPosRankSum=1.28;SOR=0.660	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1494,0,1497	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	0/2:29,5,20:54:99:.:.:106,149,522,0,351,334	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	0/2:29,5,20:54:99:.:.:106,149,522,0,351,334	0	0	8	4
chr2	189057318	189057318	A	C	splicing	COL5A2	NM_000393:exon34:c.2337+2T>G	.	.	Ehlers-Danlos syndrome, classic type, Autosomal dominant	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	4.006	20.5	5.92	2.267	9.339	16.359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.502e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	2.805e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625005	0.99412	D	0.66	0.99401	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.611489	0.92537	32	0.99483564550460934	0.67014	0.99218	0.92973	D	AEFBI	.	.	.	1.15119548577923	0.98974	20.10665	1.01036033718981	0.98817	19.48842	0.999999999925718	0.74766	0.163922	0.03765	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24341	0.04801	0	0.979619	0.84361	5.92	5.92	0.95557	9.325000	0.96006	11.291000	0.92027	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.919000	0.45453	1.0:0.0:0.0:0.0	16.359	0.83084	836	0.38045	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	99.21	35	chr2	189057318	.	A	C	99.21	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-1.941e+00;DP=875;ExcessHet=0.1072;FS=37.987;InbreedingCoeff=-0.1070;MLEAC=2;MLEAF=0.059;MQ=60.00;MQRankSum=0.00;QD=1.42;ReadPosRankSum=2.20;SOR=5.413	GT:AD:DP:GQ:PL	0/1:19,7:26:57:57,0,436	15	0	2	4
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	0/2:16,4,7,0:27:55:66,55,497,0,253,348,142,460,365,544	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	0/2:16,4,7,0:27:55:66,55,497,0,253,348,142,460,365,544	2	0	4	0
chr2	201085536	201085536	G	T	exonic	NDUFB3	.	nonsynonymous SNV	NDUFB3:NM_002491:exon3:c.G218T:p.W73L	Mitochondrial complex I deficiency, Autosomal recessive, X-linked dominant, Mitochondrial	.	.	.	.	.	.	.	.	.	.	2132088	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	0.998	D	0.903	P	0.000	D	1.000	D	.	.	-0.86	T	0.043	D	0.559	D	0.811	1.841	12.11	5.65	2.838	6.255	18.881	0.703	0.147908430563	7.7e-05	.	9.894e-05	0	0	0	0	6e-05	0	0.0005	7.76e-05	12	154602	rs370085037	0.0001	0.0001	8.992e-05	0.0001	0.0006	8.787e-05	8.273e-05	0.0005	0.0004	0	4.474e-05	3.831e-05	0	0	0	7.38e-05	0.0001	0.0006	5.928e-05	5.915e-05	2.574e-05	9.444e-05	0.0002	3.084e-05	2.215e-05	5.845e-05	4.241e-05	0	0	0	0	0	0	0	0.0001	0	0.0002	0.407	0.10245	T	0.853	0.03477	T	0.998	0.73220	D	0.903	0.64103	P	0.000001	0.84330	D	0.060357	0.999988	0.54805	D	.	.	.	-0.86	0.74477	T	-3.52	0.68412	D	0.635	0.64818	0.043	0.83097	D	0.559	0.83933	D	8	0.56295985	0.64892	D	0.147908	0.82989	D	0.703	0.89330	.	.	0.87999889046	0.87882	0.7252081237094992	0.72464	0.676155866207	0.59746	0.696472525597	0.66635	T	0.120798	0.44329	T	-0.048327	0.44702	T	0.0686503	0.74821	D	0.295548796653748	0.24820	T	0.782222	0.41780	T	0.6063648	0.73033	0.57678115	0.75478	0.6063648	0.73034	0.57678115	0.75479	-6.305	0.48762	T	0.17478791755823048	0.22217	0.326	0.55138	B	.;.;.	.;.;.	3.837571	0.55512	23.6	0.94427053870106248	0.24839	0.98722	0.86019	D	AEFBI	0.871082	0.79231	D	0.695224674346258	0.79319	7.05276	0.719758767827058	0.83880	8.139041	0.827263209275987	0.24629	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.65	5.65	0.86881	6.589000	0.73968	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.881	0.92328	636	0.64483	.;.;.	.	.	.	.	.	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	1231.98	33	chr2	201085536	.	G	T	1231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.570e-01;DP=868;ExcessHet=0.0000;FS=1.741;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.18;MQRankSum=0.086;QD=14.00;ReadPosRankSum=-7.270e-01;SOR=0.802	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1246,0,1117	20	0	1	0
chr2	201407508	201407508	G	C	exonic	TRAK2	.	nonsynonymous SNV	TRAK2:NM_015049:exon3:c.C181G:p.L61V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.767	P	0.416	B	0.000	D	1.000	D	0.69	N	2.16	T	-1.114	T	0.040	T	0.15	1.789	11.94	5.02	2.596	2.723	11.931	0.059	0.00648314564579	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	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	0.658	0.10553	T	1.0	0.03205	T	0.767	0.43786	P	0.416	0.44962	B	0.000494	0.43931	D	0.096319	0.999732	0.48635	D	0.565	0.15224	N	2.16	0.19166	T	-0.24	0.13035	N	0.247	0.27910	-1.1137	0.02770	T	0.040	0.17319	T	10	0.19527054	0.35373	T	0.006483	0.17072	T	0.059	0.16972	0.662	0.79996	0.275215494804	0.27121	0.29125751660931354	0.29038	0.456908585394	0.45342	0.434333950281	0.29802	T	0.013869	0.11911	T	-0.230664	0.16562	T	-0.56911	0.15532	T	0.923551976680756	0.58426	D	0.866613	0.57273	D	0.07320932	0.16342	0.062324125	0.12177	0.07320932	0.16342	0.062324125	0.12177	-7.463	0.57350	T	.	.	0.09	0.12607	B	.;.	.;.	2.924816	0.38838	20.8	0.99381976589752652	0.61935	0.84872	0.43965	D	AEFDGBHCI	0.314946	0.41966	N	0.0304106824315447	0.43241	2.620998	0.131381660245478	0.46163	2.866815	0.999999999574243	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.02	5.02	0.66742	2.860000	0.48071	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.867000	0.41218	0.0794:0.0:0.9206:0.0	11.931	0.52129	377	0.83897	HAP1, 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	1170.98	33	chr2	201407508	.	G	C	1170.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.217e+00;DP=823;ExcessHet=0.0000;FS=0.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=-8.450e-01;SOR=0.614	GT:AD:DP:GQ:PL	0/1:59,52:111:99:1185,0,1497	20	0	1	0
chr2	208325530	208325530	G	A	exonic	PIKFYVE	.	nonsynonymous SNV	PIKFYVE:NM_015040:exon20:c.G2719A:p.G907S,	Corneal fleck dystrophy, Autosomal dominant	.	1	1519	2	0	0	2	0.000657895	.	.	2446616	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.071	N	1.000	N	-1.265	N	1.97	T	-0.953	T	0.015	T	0.076	-2.409	0.003	2.41	0.180	1.461	6.780	0.043	0.00390705278577	.	.	8.245e-06	0	0	0	0	0	0	6.062e-05	6.5e-06	1	154602	rs778006745	8.209e-06	8.209e-06	9.529e-06	6.876e-06	2.319e-05	4.38e-06	3.46e-06	3.85e-06	2.24e-06	0	0	0	0	0	0	7.194e-06	3.312e-05	2.319e-05	1.314e-05	1.313e-05	0	2.69e-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	1.0	0.00964	T	0.822	0.03806	T	0.0	0.02946	B	0.0	0.01387	B	0.070624	0.21526	N	0.503195	1	0.08975	N	-1.32	0.00691	N	1.8	0.25344	T	0.7	0.02163	N	0.084	0.06059	-0.9531	0.40433	T	0.015	0.05849	T	10	0.024237126	0.00660	T	0.003907	0.09211	T	0.043	0.11576	.	.	0.184605227958	0.18053	0.10285224839541972	0.10215	0.282886675705	0.30743	0.304707437754	0.11106	T	0.126004	0.45209	T	-0.390984	0.02651	T	-0.702544	0.05687	T	0.0135227684033918	0.00248	T	0.488051	0.14953	T	0.028534705	0.02207	0.030220596	0.01451	0.028534705	0.02206	0.030220596	0.01451	-2.706	0.07354	T	.	.	0.070	0.05756	B	.;.	.;.	-0.207414	0.03053	0.472	0.316208132109074	0.01791	0.00462	0.02227	N	AEFBI	0.030388	0.03052	N	-1.57152167461194	0.01413	0.06160218	-1.43121033476136	0.02944	0.1364314	0.221562522937304	0.18361	0.719381	0.83141	0	0.723133	0.82719	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	6.07	2.41	0.28644	1.653000	0.36940	1.053000	0.23654	-1.612000	0.00879	0.007000	0.17678	0.013000	0.20296	0.000000	0.00833	0.7362:0.1286:0.1352:0.0	6.780	0.22827	826	0.39940	.;.	.	.	.	.	.	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	3280.98	46	chr2	208325530	.	G	A	3280.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=1100;ExcessHet=0.0000;FS=5.993;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.32;ReadPosRankSum=0.076;SOR=0.597	GT:AD:DP:GQ:PL	0/1:83,118:201:99:3295,0,2034	20	0	1	0
chr2	215052509	215052509	G	A	exonic	ABCA12	.	nonsynonymous SNV	ABCA12:NM_173076:exon5:c.C485T:p.A162V,	Ichthyosis, congenital, autosomal recessive 4A, Autosomal recessive;Ichthyosis, congenital, autosomal recessive 4B (harlequin), Autosomal recessive	.	1	1512	8	1	0	10	0.00329598	.	.	237268	Congenital_ichthyosis_of_skin|ABCA12-related_disorder|not_specified|not_provided	MedGen:C0020758|.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.25	T	0.047	B	0.016	B	0.867	N	0.927	N	0	N	-2.39	D	-0.611	T	0.426	T	0.247	2.017	12.70	3.66	2.657	1.294	11.217	0.150	0.0318633706881	0.0013	.	0.0014	0.0003	0.0014	0	0.0005	0.0019	0	0.0015	0.0013971	216	154602	rs149399707	0.0016	0.0016	0.0016	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	8.982e-05	0.0011	0	0	0.0003	0.0012	0.0018	0.0015	0.0016	0.0012	0.0012	0.0014	0.0010	0.0022	0.0011	0.0010	0.0019	0.0018	0.0002	0	0.0016	0	0	9.436e-05	0	0.0022	0.0005	0.0008	0.162	0.23541	T	0.093	0.39799	T	0.047	0.21998	B	0.016	0.17743	B	0.866559	0.08856	N	0.934548	1	0.08975	N	0.69	0.16971	N	-2.39	0.88377	D	-0.5	0.15782	N	0.387	0.42834	-0.6110	0.64362	T	0.426	0.76930	T	10	0.013969272	0.00295	T	0.031863	0.53843	D	0.150	0.39571	.	.	0.694820110243	0.69219	0.35602791091231367	0.35516	0.193823953599	0.21719	0.326494276524	0.14404	T	0.078328	0.35865	T	-0.348238	0.04839	T	-0.278854	0.46921	T	0.0106047394186227	0.00148	T	0.746125	0.36682	T	0.06397504	0.13525	0.103321336	0.24786	0.0752097	0.16929	0.09846268	0.23476	-4.29	0.28037	T	.	.	0.117	0.23640	B	.	.	2.002179	0.25439	16.76	0.98784209932930445	0.46175	0.26493	0.23009	N	AEFDGBIJ	0.065318	0.12733	N	-0.415398532101686	0.24928	1.349595	-0.248536800068874	0.29821	1.673956	0.993275159844092	0.33152	0.594549	0.33734	0	0.486142	0.07564	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.64	3.66	0.41111	1.318000	0.33249	2.425000	0.32705	0.676000	0.76740	0.209000	0.24412	0.064000	0.22093	0.954000	0.50415	0.0:0.0:0.7363:0.2637	11.217	0.48062	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	0	0	0	0	0.02381	1221.98	39	chr2	215052509	.	G	A	1221.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=820;ExcessHet=0.0000;FS=2.287;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.47;ReadPosRankSum=-3.260e-01;SOR=0.922	GT:AD:DP:GQ:PL	0/1:79,50:129:99:1236,0,2048	20	0	1	0
chr2	228108932	228108932	C	T	exonic	SPHKAP	.	nonsynonymous SNV	SPHKAP:NM_001142644:exon3:c.G146A:p.R49H	.	.	429	1089	4	0	0	4	0.00183318	.	.	3323153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.12	T	0.997	D	0.804	P	0.002	N	0.642	D	0.345	N	1.18	T	-0.925	T	0.098	T	0.273	3.772	19.15	5.55	2.894	4.834	14.877	0.133	0.0080274037085	0.0003	0.000599042	0.0008	0.0002	8.711e-05	0	0.0017	0.0007	0.0022	0.0018	0.0006792	105	154602	rs145848831	0.0008	0.0008	0.0007	0.0009	0.0024	0.0008	0.0007	0.0021	0.0020	3.105e-05	0.0002	0	0	0.0013	0.0009	0.0007	0.0010	0.0024	0.0007	0.0007	0.0008	0.0006	0.0021	0.0006	0.0006	0.0011	0.0009	2.409e-05	0	0.0005	0	0	0.0009	0	0.0012	0.0005	0.0021	0.216	0.19225	T	0.19	0.28575	T	0.997	0.70673	D	0.685	0.58350	P	0.001764	0.38052	N	0.259855	0.642273	0.32887	D	1.525	0.38595	L	1.18	0.37746	T	-0.76	0.21215	N	0.397	0.43803	-0.9254	0.44801	T	0.098	0.36600	T	10	0.024356186	0.00667	T	0.008027	0.21290	T	0.133	0.36157	.	.	0.430694319191	0.42687	0.23036729028979847	0.22951	0.319516133586	0.34152	0.289454489946	0.08843	T	0.025851	0.19251	T	-0.472875	0.00816	T	-0.458813	0.26729	T	0.0851309791687501	0.10630	T	0.944706	0.79020	D	0.09464393	0.22257	0.066513225	0.13637	0.09464393	0.22257	0.066513225	0.13636	-3.451	0.15752	T	.	.	0.111	0.30945	B	.;.	.;.	4.528726	0.71068	25.6	0.99924732898366186	0.98980	0.88840	0.48965	D	AEFI	0.735802	0.68151	D	0.466277573670467	0.65134	4.784238	0.533118973247603	0.70231	5.474978	0.0564926967038695	0.15057	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.55	5.55	0.83298	5.219000	0.65094	5.781000	0.49805	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.920000	0.45560	0.0:1.0:0.0:0.0	14.877	0.70139	815	0.41851	.;.	.	.	.	.	.	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	731.98	33	chr2	228108932	.	C	T	731.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.182e+00;DP=736;ExcessHet=0.0000;FS=2.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.31;ReadPosRankSum=0.702;SOR=0.369	GT:AD:DP:GQ:PL	0/1:25,30:55:99:746,0,635	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	0|1:76,45,0:121:99:0|1:232847516_CACA_C:1562,0,2909,1790,3045,4835:232847516	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	0|1:76,45,0:121:99:0|1:232847516_CACA_C:1562,0,2909,1790,3045,4835:232847516	6	4	10	0
chr2	236580968	236580968	T	C	exonic	ACKR3	.	nonsynonymous SNV	ACKR3:NM_020311:exon2:c.T503C:p.V168A,	.	.	427	1084	11	0	0	11	0.00504819	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.973	D	0.813	P	0.000	D	1.000	D	1.83	L	-0.81	T	-0.248	T	0.432	T	0.386	3.941	20.1	3.31	0.434	4.984	10.025	0.534	0.0359962335538	0.0005	.	0.0004	0	8.637e-05	0	0	0.0005	0.0011	0.0012	0.0004075	63	154602	rs142678508	0.0003	0.0003	0.0003	0.0004	0.0019	0.0003	0.0003	0.0017	0.0016	2.987e-05	4.472e-05	0	2.519e-05	1.873e-05	0.0002	0.0003	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	0	0	0.0002	0	0	0	0	0.0004	0.0005	0.0008	0.005	0.63226	D	0.039	0.53426	D	0.973	0.57599	D	0.813	0.58748	P	0.000000	0.84330	D	0.000000	0.99997	0.53665	D	2.495	0.72670	M	-0.81	0.73949	T	-3.63	0.69714	D	0.35	0.39153	-0.2479	0.76416	T	0.432	0.77348	T	10	0.15591606	0.29376	T	0.035996	0.56708	D	0.534	0.80426	.	.	0.822862055848	0.82118	0.8055548524677405	0.80510	0.582402522763	0.53999	0.508637666702	0.40032	T	0.059652	0.71582	T	-0.259622	0.12945	T	-0.181084	0.56423	T	0.271632417765217	0.23817	T	0.69863	0.30863	T	0.4234102	0.62318	0.47074416	0.69311	0.4234102	0.62319	0.47074416	0.69311	-6.39	0.49432	T	.	.	0.551	0.66846	A	.;.	.;.	4.013158	0.59222	24.1	0.99723390853820271	0.82195	0.88203	0.48027	D	AEFGBCI	0.444419	0.50132	N	0.434426253139885	0.63326	4.564141	0.408300462177277	0.62081	4.417714	0.999935672079718	0.46732	0.706548	0.73137	0	0.697927	0.68747	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.7	3.31	0.37025	4.895000	0.62904	4.959000	0.46330	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.1365:0.0:0.8635	10.025	0.41238	981	0.03995	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	0	0	0	0	0.04762	10054.11	34	chr2	236580968	.	T	C	10054.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.221e+00;DP=1462;ExcessHet=0.1072;FS=1.744;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.331;SOR=0.573	GT:AD:DP:GQ:PL	0/1:167,177:344:99:4675,0,4644	19	0	2	0
chr2	237567047	237567047	G	A	exonic	PRLH	.	nonsynonymous SNV	PRLH:NM_015893:exon2:c.G136A:p.G46R,	.	.	407	1114	1	0	0	1	0.000448632	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.111	B	0.021	B	0.492	N	1.000	N	.	.	.	.	-1.062	T	0.065	T	0.229	-0.045	3.784	-2.21	-0.832	0.377	9.243	0.124	0.00265271257167	0.0002	0.000199681	0.0001	9.688e-05	8.654e-05	0	0	0.0002	0	0.0002	0.0001488	23	154602	rs147108124	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0002	0.0002	0.0002	5.974e-05	0.0002	0	0	0	0.0007	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0.0002	0.0006	0.0001	8.71e-05	0.0002	9.897e-05	0.0001	0	0	0	0	0	0	0.0002	0.0005	0.0006	0.17	0.22833	T	0.483	0.11795	T	0.111	0.26235	B	0.021	0.19346	B	0.491683	0.12050	N	0.641577	1	0.08975	N	.	.	.	.	.	.	-7.07	0.93903	D	0.352	0.39356	-1.0621	0.11239	T	0.065	0.26878	T	8	0.09968409	0.18106	T	0.002653	0.05406	T	0.124	0.34239	0.41	0.44559	0.110078149338	0.10416	0.6813342138349155	0.68072	0.0230896794622	0.02335	0.442553341389	0.30926	T	0.651674	0.89438	D	-0.385955	0.02856	T	-0.486197	0.23790	T	0.0474936254322529	0.05053	T	0.709329	0.31993	T	0.21887124	0.44405	0.2632389	0.52127	0.21887124	0.44405	0.2632389	0.52126	-4.287	0.27994	T	.	.	0.123	0.25785	B	.	.	0.729700	0.10990	7.650	0.85469860620698446	0.15912	0.08606	0.14512	N	AEFDBHCI	0.043997	0.07024	N	-1.13603581163418	0.06013	0.2756868	-1.22322889703217	0.05538	0.264164	0.0524654280899221	0.14907	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	4.27	-2.21	0.06581	0.589000	0.23640	0.171000	0.15519	-0.129000	0.13216	0.445000	0.26527	0.001000	0.17328	0.189000	0.21571	0.4448:0.0:0.5552:0.0	9.243	0.36672	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	0.02381	648.98	35	chr2	237567047	.	G	A	648.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.48;DP=822;ExcessHet=0.0000;FS=0.771;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=5.85;ReadPosRankSum=-6.000e-03;SOR=0.706	GT:AD:DP:GQ:PL	0/1:78,33:111:99:663,0,1832	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	0/1:51,49,0:102:99:.:.:1769,0,1883,1952,2060,4113	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	0/2:50,6,25:91:99:411,359,1996,0,1071,1004	0	0	1	0
chr2	241816873	241816873	C	G	exonic	NEU4	.	nonsynonymous SNV	NEU4:NM_001167599:exon4:c.C1319G:p.P440R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.203	B	0.048	B	0.003	N	0.807	D	0.44	N	-1.75	D	-0.818	T	0.243	T	0.152	-0.255	2.773	1.31	0.741	0.799	5.032	0.088	0.00778873832935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.109e-06	4.104e-06	1.363e-06	6.883e-06	0.0002	1.48e-06	9.7e-07	3e-07	1.1e-07	0	0	0	0	0	0.0002	1.799e-06	4.976e-05	0	6.564e-06	6.561e-06	0	1.342e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.319	0.22486	T	0.179	0.30241	T	0.077	0.29776	B	0.02	0.24975	B	0.003344	0.35069	N	0.280976	0.807257	0.34591	D	1.765	0.45800	L	-1.75	0.83495	D	-2.39	0.52612	N	0.097	0.07811	-0.8182	0.54046	T	0.243	0.61201	T	10	0.08625284	0.14642	T	0.007789	0.20668	T	0.088	0.25558	0.404	0.43573	0.56380075071	0.56042	0.35453584687028317	0.35367	0.052570722875	0.05790	0.51746571064	0.41270	T	0.349124	0.71702	T	-0.0943941	0.37351	T	-0.373367	0.36496	T	0.149863287806511	0.17092	T	0.516848	0.16688	T	0.03865502	0.05192	0.07014785	0.14870	0.03865502	0.05192	0.07014785	0.14870	-4.44	0.30096	T	.	.	0.076	0.09627	B	.;.;.;.;.	.;.;.;.;.	0.721555	0.10909	7.577	0.86790973566179608	0.16775	0.20508	0.21067	N	AEFDBCI	0.243865	0.36507	N	-0.967944121812401	0.09294	0.4392821	-0.978364238583453	0.10271	0.5162681	0.970661419857482	0.29225	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	4.24	1.31	0.20837	0.772000	0.26309	0.579000	0.19686	-0.884000	0.02433	0.360000	0.25842	0.000000	0.08366	0.000000	0.00833	0.0:0.5693:0.1943:0.2364	5.032	0.13757	958	0.09170	.;.;.;.;.	.	.	.	.	.	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	1443.98	58	chr2	241816873	.	C	G	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.795;DP=1116;ExcessHet=0.0000;FS=1.037;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.47;ReadPosRankSum=1.16;SOR=0.984	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,37:59:99:0|1:241816873_C_G:1458,0,791:241816873	20	0	1	0
chr3	328292	328292	G	T	exonic	CHL1	.	nonsynonymous SNV	CHL1:NM_001253388:exon3:c.G323T:p.R108L	.	.	.	.	.	.	.	.	.	.	.	1092369	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.065	M	1.11	T	0.089	D	0.512	D	0.965	5.007	29.4	5.02	2.329	5.337	16.521	0.504	0.106274550834	.	.	9.076e-05	0	0	0	0	0	0	0.0007	7.76e-05	12	154602	rs369767790	4.863e-05	4.857e-05	3.271e-05	6.471e-05	0.0005	3.931e-05	3.609e-05	0.0004	0.0003	0	2.243e-05	0	0	0	0	2.341e-05	3.317e-05	0.0005	3.943e-05	3.938e-05	5.144e-05	2.688e-05	0.0004	1.716e-05	1.13e-05	7.29e-05	3.029e-05	0	0	0	0	0	0	0	5.885e-05	0	0.0004	0.004	0.78490	D	0.006	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	1.11	0.71895	T	-4.66	0.87223	D	0.858	0.87590	0.089	0.83978	D	0.512	0.81690	D	10	0.6208484	0.67969	D	0.106275	0.78180	D	0.504	0.78600	0.677	0.81496	0.859679227615	0.85832	0.8002733302462346	0.79981	0.0678554435599	0.07595	0.45294302702	0.32346	T	0.340213	0.70926	T	0.0775779	0.61756	D	0.231143	0.84725	D	0.824852108955383	0.48135	D	0.875312	0.73308	D	0.62035435	0.73782	0.5404908	0.73443	0.66064477	0.75935	0.5336625	0.73054	-11.061	0.80845	D	.	.	0.658	0.72470	P	.;.;.;.	.;.;.;.	4.376853	0.67438	25.1	0.99844372131919579	0.92403	0.97137	0.72907	D	AEFI	0.752807	0.69319	D	0.726584493783711	0.81377	7.507494	0.693899886320941	0.81917	7.639698	0.987700203983954	0.31324	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.02	5.02	0.66742	5.433000	0.66269	4.963000	0.46353	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	16.521	0.84161	969	0.06854	.;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	987.98	34	chr3	328292	.	G	T	987.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.157e+00;DP=812;ExcessHet=0.0000;FS=2.508;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.82;ReadPosRankSum=-2.520e-01;SOR=0.453	GT:AD:DP:GQ:PL	0/1:67,45:112:99:1002,0,1744	20	0	1	0
chr3	11259094	11259094	G	C	exonic	HRH1	.	nonsynonymous SNV	HRH1:NM_001098211:exon2:c.G57C:p.K19N	.	.	430	1085	7	0	0	7	0.00321543	.	.	708467	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.51	T	0.651	P	0.116	B	0.059	N	0.946	N	0.805	L	1.22	T	-1.092	T	0.041	T	0.077	2.593	14.63	5.02	1.465	1.509	16.275	0.078	0.00581780761098	0.0040	0.00139776	0.0044	0.0013	0.0026	0	0.0083	0.0063	0.0022	0.0002	0.0041914	648	154602	rs2067466	0.0047	0.0047	0.0048	0.0046	0.0054	0.0046	0.0046	0.0051	0.0051	0.0008	0.0030	0.0056	0	0.0074	0.0054	0.0052	0.0052	0.0003	0.0038	0.0038	0.0035	0.0042	0.0055	0.0036	0.0035	0.0050	0.0048	0.0008	0	0.0033	0.0046	0	0.0090	0.0034	0.0055	0.0071	0.0004	0.217	0.19157	T	0.325	0.18846	T	0.651	0.40707	P	0.116	0.31939	B	0.058732	0.22379	N	0.475105	0.945824	0.26649	N	2.25	0.63811	M	1.22	0.37052	T	0.7	0.02163	N	0.069	0.04188	-1.0919	0.05223	T	0.041	0.17742	T	10	0.0037067235	0.00068	T	0.005818	0.15131	T	0.078	0.22779	0.123	0.02942	0.598497351524	0.59529	0.20596321321530162	0.20513	0.3674429646	0.38303	0.266831040382	0.05732	T	0.034731	0.23438	T	-0.579809	0.00193	T	-0.601906	0.12652	T	0.0190926818231129	0.00617	T	0.709329	0.31993	T	0.17709923	0.38658	0.1372117	0.32804	0.17709923	0.38658	0.1372117	0.32803	-2.881	0.08955	T	.	.	0.167	0.36850	B	.;.;.	.;.;.	1.316241	0.17197	13.02	0.99647623802509744	0.77068	0.38773	0.26064	N	AEFDGBHCI	0.133219	0.25281	N	-0.2197031616686	0.32325	1.821855	-0.125188046635083	0.34378	1.976805	0.999924125828484	0.46280	0.562547	0.31514	0	0.59043	0.45803	0	0.615948	0.41167	0	0.635551	0.53088	0	.	.	5.91	5.02	0.66742	2.847000	0.47970	3.439000	0.38368	0.676000	0.76740	0.380000	0.26006	0.999000	0.35428	0.968000	0.53726	0.0:0.0:0.8663:0.1337	16.275	0.82469	778	0.48011	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1895.98	42	chr3	11259094	.	G	C	1895.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.465e+00;DP=1013;ExcessHet=0.0000;FS=2.177;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.64;ReadPosRankSum=0.019;SOR=0.503	GT:AD:DP:GQ:PL	0/1:76,74:150:99:1910,0,2040	20	0	1	0
chr3	25501231	25501231	G	A	exonic	RARB	.	nonsynonymous SNV	RARB:NM_000965:exon3:c.G356A:p.R119Q	Microphthalmia, syndromic 12, Autosomal recessive, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	2718054	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.11	T	0.884	P	0.655	P	0.000	D	1.000	D	2.025	M	-4.28	D	0.996	D	0.911	D	0.761	5.410	34	4.98	2.286	9.869	18.263	0.774	0.25960318637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1292531557	7.55e-06	7.524e-06	6.829e-06	8.279e-06	0.0002	4.05e-06	2.96e-06	3.81e-06	2.76e-06	0	0	0	0	0	0.0002	8.105e-06	0	1.174e-05	6.581e-06	6.569e-06	1.286e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.071	0.39575	T	0.086	0.47828	T	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	0.999978	0.58761	D	.	.	.	-4.28	0.97126	D	-3.31	0.65972	D	0.718	0.72299	0.996	0.97117	D	0.911	0.97046	D	10	0.85134387	0.84314	D	0.259603	0.89452	D	0.774	0.92419	0.62	0.75461	0.951177786065	0.95066	0.6641327596026594	0.66350	1.66441580669	0.89733	0.896315395832	0.96021	D	0.707943	0.91646	D	0.347536	0.86340	D	0.261435	0.86161	D	0.966794729232788	0.67698	D	0.911709	0.69499	D	.	.	.	.	.	.	.	.	-10.903	0.97270	D	.	.	0.730	0.74215	P	.;.;.;.	.;.;.;.	5.571965	0.92227	32	0.99957879315708476	0.99986	0.98791	0.86901	D	AEFBIJ	0.910625	0.86878	D	0.650071541545031	0.76371	6.474501	0.677397285497649	0.80665	7.349764	0.999999999999035	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.573888	0.23631	0	0.714379	0.83352	0	.	.	4.98	4.98	0.65679	10.003000	0.99689	11.795000	0.96485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	18.263	0.89979	924	0.18029	Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type;.;Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type|Zinc finger, nuclear hormone receptor-type	.	.	.	.	.	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	1726.98	35	chr3	25501231	.	G	A	1726.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.406;DP=851;ExcessHet=0.0000;FS=2.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=-7.130e-01;SOR=0.509	GT:AD:DP:GQ:PL	0/1:63,71:134:99:1741,0,1435	20	0	1	0
chr3	32239050	32239050	C	G	exonic	CMTM8	.	nonsynonymous SNV	CMTM8:NM_001320308:exon1:c.C78G:p.S26R	.	.	417	1104	1	0	0	1	0.000452694	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.001	B	0.422	N	0.739	N	0	N	1.4	T	-1.109	T	0.015	T	0.175	3.015	16.06	4.68	2.138	4.862	17.195	0.056	.	.	0.00638978	0.0042	0	0	0.0650	0	0	0	0.0008	0.0018564	287	154602	rs76321736	0.0007	0.0008	0.0007	0.0008	0.0238	0.0007	0.0007	0.0225	0.0220	3.042e-05	7.094e-05	0	0.0238	0	0.0002	1.905e-05	0.0008	0.0012	0.0012	0.0013	0.0010	0.0015	0.0347	0.0011	0.0010	0.0305	0.0290	0	0	0.0001	0	0.0347	0	0	4.41e-05	0	0.0010	0.037	0.43085	D	0.088	0.40586	T	0.0	0.02946	B	0.0	0.01387	B	0.422322	0.12854	N	0.707951	0.823225	0.29750	N	0.345	0.11182	N	1.4	0.33630	T	-1.36	0.33798	N	0.332	0.37301	-1.1088	0.03174	T	0.015	0.05946	T	10	0.0025509596	0.00039	T	.	.	.	0.056	0.15993	0.252	0.19067	0.0675242888579	0.06100	0.6507230219995305	0.65008	0.211569426823	0.23658	0.673269033432	0.63304	T	0.018778	0.15081	T	-0.538248	0.00343	T	-0.515946	0.20706	T	0.0270107402315607	0.01546	T	0.611839	0.23263	T	0.36968896	0.58562	0.20763713	0.45030	0.36968896	0.58562	0.20763713	0.45029	-4.66	0.36677	T	.	.	0.471	0.63234	A	.;.	.;.	3.951328	0.57888	23.9	0.99107561876791939	0.52648	0.90413	0.51569	D	AEFDGBCI	0.630465	0.61180	D	-0.242588483749406	0.31401	1.760294	-0.0255566049744355	0.38564	2.273854	0.999999999924397	0.74766	0.72623	0.87236	0	0.491552	0.07993	0	0.594344	0.31042	0	0.372554	0.06265	0	.	.	4.68	4.68	0.58319	4.997000	0.63662	4.574000	0.43892	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.195	0.86772	940	0.13648	.;.	.	.	.	.	.	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	452.98	33	chr3	32239050	.	C	G	452.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.364e+00;DP=764;ExcessHet=0.0000;FS=3.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.95;ReadPosRankSum=0.402;SOR=1.251	GT:AD:DP:GQ:PL	0/1:35,22:57:99:467,0,1007	20	0	1	0
chr3	36856139	36856139	C	A	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon12:c.G3451T:p.V1151L	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.775	P	0.557	P	0.000	D	0.998	D	2.395	M	-1.84	D	-0.123	T	0.307	T	0.665	3.458	17.71	5.36	2.688	4.408	12.787	0.635	.	.	0.00559105	0.0023	0	0	0.0231	0.0014	0.0007	0.0011	0.0012	0.0021086	326	154602	rs76739135	0.0015	0.0015	0.0014	0.0015	0.0427	0.0014	0.0014	0.0410	0.0403	0	0	0	0.0427	0.0015	0	0.0001	0.0015	0.0013	0.0011	0.0011	0.0010	0.0012	0.0238	0.0010	0.0009	0.0204	0.0191	0	0	0.0001	0	0.0238	0.0012	0	0.0003	0.0005	0.0021	0.014	0.53172	D	0.029	0.54541	D	0.775	0.44108	P	0.557	0.49454	P	0.000057	0.53742	D	0.000000	0.997832	0.44237	D	2.315	0.66250	M	-1.84	0.84195	D	-1.84	0.43149	N	0.572	0.59478	-0.1232	0.79560	T	0.307	0.67740	T	10	0.010493845	0.00233	T	.	.	.	0.635	0.86027	0.594	0.72371	0.646241729955	0.64331	0.3849234659611564	0.38407	0.632490284988	0.57180	0.782904088497	0.79367	T	0.091678	0.38846	T	-0.184683	0.23041	T	0.00983473	0.70972	D	0.0748960477702663	0.09321	T	0.90351	0.66162	D	0.24975628	0.47972	0.18368466	0.41374	0.24975628	0.47972	0.18368466	0.41373	-6.526	0.50487	T	.	.	0.452	0.62326	A	.;.	.;.	4.159476	0.62453	24.5	0.99715134815777295	0.81633	0.94068	0.60016	D	AEFBI	0.591992	0.58787	D	0.560801973233034	0.70744	5.546429	0.586147463555257	0.73946	6.054	0.983343397979028	0.30544	0.651	0.46895	0	0.633656	0.55848	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.36	5.36	0.76624	4.482000	0.59989	7.658000	0.64072	0.599000	0.40250	0.999000	0.42656	1.000000	0.68203	0.997000	0.79791	0.0:0.9247:0.0:0.0753	12.787	0.56891	512	0.75040	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2081.98	88	chr3	36856139	.	C	A	2081.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.305;DP=1553;ExcessHet=0.0000;FS=1.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=-1.670e+00;SOR=0.858	GT:AD:DP:GQ:PL	0/1:62,75:137:99:2096,0,1651	20	0	1	0
chr3	38110178	38110178	C	T	exonic	DLEC1	.	nonsynonymous SNV	DLEC1:NM_001321153:exon23:c.C3349T:p.R1117C	Esophageal cancer, Autosomal dominant;Lung cancer, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.67	P	0.119	B	0.039	N	0.713	N	2.135	M	3.49	T	-1.039	T	0.016	T	0.187	1.812	12.02	-2.03	-0.656	-0.542	0.482	0.045	0.00305062194554	.	0.00139776	0.0005	0	8.642e-05	0.0062	0	8.998e-05	0	6.057e-05	0.0004398	68	154602	rs191665258	0.0002	0.0002	0.0003	0.0002	0.0055	0.0002	0.0002	0.0049	0.0047	5.974e-05	4.472e-05	0	0.0055	3.746e-05	0	8.004e-05	0.0003	3.478e-05	0.0003	0.0003	0.0003	0.0004	0.0069	0.0003	0.0002	0.0051	0.0045	7.217e-05	0	0	0	0.0069	0	0	0.0002	0	0.0004	0.051	0.39334	T	0.002	0.79402	D	0.67	0.41173	P	0.119	0.32162	B	0.038972	0.24223	N	0.426070	0.71341	0.29992	N	1.435	0.35949	L	3.24	0.06845	T	-4.64	0.79915	D	0.204	0.24385	-1.0387	0.17709	T	0.016	0.06569	T	10	0.0061564147	0.00139	T	0.003051	0.06577	T	0.045	0.12272	.	.	0.236890367714	0.23314	0.7530497539487959	0.75251	0.175439772078	0.19750	0.295730113983	0.09766	T	0.138329	0.47176	T	-0.623789	0.00104	T	-0.665777	0.07882	T	0.0928305986684289	0.11550	T	0.751925	0.37414	T	0.08528829	0.19778	0.11973679	0.28899	0.08528829	0.19778	0.11973679	0.28898	-8.849	0.68140	D	.	.	0.092	0.13690	B	.;.	.;.	1.481155	0.19065	14.07	0.97932849274159528	0.36971	0.03921	0.09309	N	AEFDBI	0.104690	0.20940	N	-0.793042451904238	0.13491	0.6649493	-0.913654119509736	0.11772	0.601744	0.974785716417774	0.29573	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.97	-2.03	0.06959	-0.323000	0.08039	-0.160000	0.11332	-1.034000	0.01683	0.000000	0.06391	0.000000	0.08366	0.691000	0.33868	0.2383:0.2959:0.2324:0.2335	0.482	0.00512	557	0.71576	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2345.98	34	chr3	38110178	.	C	T	2345.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.118;DP=919;ExcessHet=0.0000;FS=1.657;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.91;ReadPosRankSum=0.241;SOR=0.655	GT:AD:DP:GQ:PL	0/1:115,100:215:99:2360,0,2773	20	0	1	0
chr3	39085577	39085577	C	T	exonic	WDR48	.	nonsynonymous SNV	WDR48:NM_001303402:exon13:c.C1195T:p.P399S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.187	B	0.079	B	0.000	D	1.000	D	0.455	N	1.29	T	-0.364	T	0.444	T	0.684	2.922	15.74	5.52	2.581	7.706	19.458	0.168	0.0343337019557	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.743	0.04930	T	0.11	0.26188	B	0.079	0.28749	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.69	0.16971	N	1.29	0.35775	T	-0.6	0.17834	N	0.694	0.69913	-0.3645	0.73129	T	0.444	0.78106	T	10	0.35949832	0.52616	T	0.034334	0.55607	D	0.168	0.42943	0.203	0.11797	0.29893580763	0.29502	0.6026499381281193	0.60195	0.681907863845	0.60075	0.752926409245	0.74879	T	0.066906	0.33064	T	0.0384999	0.56849	T	-0.182474	0.56293	T	0.643223908680433	0.38174	D	0.959804	0.84855	D	0.30838647	0.53646	0.2144532	0.45996	0.30838647	0.53646	0.2144532	0.45995	-3.299	0.13724	T	.	.	0.078	0.06849	B	.	.	3.315289	0.45575	22.2	0.98063489540810356	0.37968	0.98863	0.87857	D	AEFBI	0.916700	0.88326	D	0.0230572866118074	0.42904	2.594016	0.245751948119286	0.52408	3.415821	0.999999999999992	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	7.793000	0.84418	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.458	0.94897	360	0.84920	.	.	.	.	.	.	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	654.98	34	chr3	39085577	.	C	T	654.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=782;ExcessHet=0.0000;FS=2.989;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.80;ReadPosRankSum=0.018;SOR=0.645	GT:AD:DP:GQ:PL	0/1:52,32:84:99:669,0,1247	20	0	1	0
chr3	39143393	39143393	G	A	exonic	CSRNP1	.	nonsynonymous SNV	CSRNP1:NM_001320559:exon5:c.C1492T:p.L498F	.	.	424	1051	45	2	0	49	0.0227801	.	.	166006	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.7	T	0.001	B	0.003	B	0.892	N	1.000	N	1.61	L	0.87	T	-0.992	T	0.057	T	0.024	-0.737	0.857	-1.03	-0.026	0.236	7.817	0.061	.	0.0051	0.00579073	0.0063	0.0013	0.0030	0.0002	0.0006	0.0063	0.0089	0.0167	0.0062871	972	154602	rs147162469	0.0067	0.0067	0.0063	0.0071	0.0258	0.0066	0.0066	0.0225	0.0212	0.0010	0.0032	0.0160	0.0001	0.0008	0.0258	0.0063	0.0069	0.0188	0.0048	0.0048	0.0049	0.0048	0.0147	0.0045	0.0044	0.0120	0.0109	0.0013	0.0824	0.0033	0.0196	0	0.0004	0.0170	0.0058	0.0066	0.0147	0.168	0.23007	T	0.377	0.16134	T	0.001	0.07471	B	0.003	0.08700	B	0.891722	0.08682	N	0.942455	1	0.08975	N	1.83	0.48079	L	0.87	0.46412	T	-1.18	0.30140	N	0.029	0.00666	-0.9916	0.32193	T	0.057	0.23980	T	10	0.002443254	0.00036	T	.	.	.	0.061	0.17616	.	.	0.171220215726	0.16700	0.08683155020011654	0.08617	0.275595305598	0.30031	0.320648282766	0.13520	T	0.157448	0.50005	T	-0.663042	0.00060	T	-0.710911	0.05248	T	0.00116828457777111	0.00011	T	0.60024	0.22396	T	0.045485523	0.07452	0.049600035	0.07614	0.045485523	0.07451	0.049600035	0.07614	-4.446	0.30176	T	.	.	0.066	0.02257	B	.;.	.;.	1.159448	0.15481	11.88	0.83339099341535916	0.14672	0.08042	0.14018	N	AEFDBHCI	0.097531	0.19669	N	-1.07311803704485	0.07142	0.3308889	-1.09388590543755	0.07820	0.3819119	0.999999053823196	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.37	-1.03	0.09586	0.650000	0.24544	1.896000	0.29550	-0.119000	0.14319	0.093000	0.22645	0.974000	0.29927	0.668000	0.33194	0.2303:0.2771:0.4926:0.0	7.817	0.28427	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	0.02381	1838.98	34	chr3	39143393	.	G	A	1838.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.36;DP=826;ExcessHet=0.0000;FS=3.071;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.42;ReadPosRankSum=-8.010e-01;SOR=0.989	GT:AD:DP:GQ:PL	0/1:69,68:137:99:1853,0,1806	20	0	1	0
chr3	39189094	39189094	C	T	exonic	XIRP1	.	nonsynonymous SNV	XIRP1:NM_001198621:exon2:c.G352A:p.V118M	.	.	427	1087	8	0	0	8	0.00366636	.	.	166002	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.973	D	0.011	U	0.999	N	1.1	L	3.67	T	-1.109	T	0.024	T	0.55	0.583	7.146	2.93	0.545	0.991	9.159	0.080	0.00819246268075	0.0011	0.00139776	0.0011	0.0004	0.0016	0	0	0.0017	0	0.0002	0.0011578	179	154602	rs115823205	0.0016	0.0016	0.0016	0.0016	0.0023	0.0015	0.0015	0.0017	0.0017	0.0003	0.0020	0.0026	2.519e-05	7.497e-05	0.0023	0.0018	0.0017	0.0005	0.0012	0.0012	0.0012	0.0011	0.0025	0.0010	0.0010	0.0019	0.0016	0.0003	0	0.0025	0.0017	0	0	0.0034	0.0016	0.0014	0.0006	0.002	0.72154	D	0.008	0.69154	D	1.0	0.90584	D	0.973	0.72923	D	0.010977	0.29712	U	0.271217	1	0.21117	N	1.79	0.46772	L	3.31	0.06291	T	-1.83	0.42957	N	0.442	0.48042	-1.1093	0.03130	T	0.024	0.10013	T	10	0.0061520934	0.00138	T	0.008192	0.21700	T	0.080	0.23350	.	.	0.319970858106	0.31615	0.3472835932198367	0.34642	0.351107696286	0.36959	0.407595276833	0.26123	T	0.310168	0.68214	T	-0.462163	0.00953	T	-0.443426	0.28424	T	0.0153514990771183	0.00342	T	0.80372	0.45098	T	0.1046573	0.24742	0.18562286	0.41686	0.11064026	0.26149	0.18174098	0.41056	-6.285	0.48603	T	.	.	0.131	0.32733	B	.;.	.;.	2.852507	0.37665	20.6	0.99687440656092441	0.79708	0.05955	0.11913	N	AEFDBI	0.111830	0.22127	N	-0.207499257138025	0.32826	1.855601	-0.389717538682408	0.25301	1.39064	0.999980291360488	0.51787	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.72	2.93	0.33092	1.000000	0.29371	2.163000	0.30996	0.599000	0.40250	0.116000	0.23103	0.975000	0.29991	0.006000	0.07323	0.0:0.8192:0.0:0.1808	9.159	0.36171	564	0.70960	.;.	.	.	.	.	.	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	1914.98	39	chr3	39189094	.	C	T	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.07;DP=964;ExcessHet=0.0000;FS=2.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-6.020e-01;SOR=0.925	GT:AD:DP:GQ:PL	0/1:76,69:145:99:1929,0,1952	20	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	0/3:37,0,0,26,0,0,0:63:99:975,1087,2623,1087,2623,2623,0,1535,1535,1457,1087,2623,2623,1535,2623,1087,2623,2623,1535,2623,2623,1087,2623,2623,1535,2623,2623,2623	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	0/3:37,0,0,26,0,0,0:63:99:975,1087,2623,1087,2623,2623,0,1535,1535,1457,1087,2623,2623,1535,2623,1087,2623,2623,1535,2623,2623,1087,2623,2623,1535,2623,2623,2623	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	0/3:37,0,0,26,0,0,0:63:99:975,1087,2623,1087,2623,2623,0,1535,1535,1457,1087,2623,2623,1535,2623,1087,2623,2623,1535,2623,2623,1087,2623,2623,1535,2623,2623,2623	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	0/3:37,0,0,26,0,0,0:63:99:975,1087,2623,1087,2623,2623,0,1535,1535,1457,1087,2623,2623,1535,2623,1087,2623,2623,1535,2623,2623,1087,2623,2623,1535,2623,2623,2623	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	0/3:37,0,0,26,0,0,0:63:99:975,1087,2623,1087,2623,2623,0,1535,1535,1457,1087,2623,2623,1535,2623,1087,2623,2623,1535,2623,2623,1087,2623,2623,1535,2623,2623,2623	1	2	2	0
chr3	41705058	41705058	G	A	exonic	ULK4	.	nonsynonymous SNV	ULK4:NM_001322501:exon26:c.C1874T:p.T625M	.	.	462	1052	7	1	0	9	0.00425935	0.9195	0.618	2366137	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.992	D	0.687	P	0.115	U	1.000	D	0.895	L	-0.18	T	-0.543	T	0.255	T	0.626	2.570	14.55	5.12	2.377	7.105	18.558	0.211	0.0271901580581	0.0003	0.000399361	0.0005	0	0	0	0.0002	0.0007	0	0.0007	0.000401	62	154602	rs201639701	0.0004	0.0004	0.0004	0.0004	0.0046	0.0004	0.0004	0.0032	0.0028	3.019e-05	6.889e-05	0	0	0.0001	0.0046	0.0004	0.0004	0.0012	0.0002	0.0002	0.0002	0.0003	0.0017	0.0002	0.0002	0.0008	0.0006	4.815e-05	0	6.536e-05	0	0	0.0004	0.0102	0.0002	0.0014	0.0017	0.038	0.42783	D	0.118	0.36233	T	0.992	0.64738	D	0.687	0.53665	P	0.114653	0.19267	U	0.452872	0.999894	0.50595	D	1.04	0.26193	L	-0.18	0.65747	T	-1.35	0.33598	N	0.675	0.68255	-0.5427	0.67062	T	0.255	0.62575	T	10	0.21222398	0.37675	T	0.02719	0.50027	D	0.211	0.50185	.	.	0.787557877294	0.78558	0.6274790581813261	0.62680	0.12484797569	0.14065	0.532669663429	0.43410	T	0.006138	0.05579	T	-0.218333	0.18221	T	-0.161811	0.58188	T	0.0873838773337145	0.10904	T	0.833117	0.50161	T	0.07644654	0.17289	0.14198221	0.33794	0.07644654	0.17288	0.14198221	0.33793	-4.293	0.28079	T	.	.	0.105	0.19073	B	.	.	5.145103	0.86152	28.8	0.99769695853680596	0.85750	0.97217	0.73382	D	AEFBI	0.734429	0.68056	D	0.418418943431622	0.62436	4.459353	0.418608260642314	0.62723	4.492773	0.990330232118494	0.32118	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	5.12	5.12	0.69459	7.233000	0.77589	8.450000	0.77217	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:1.0:0.0	18.558	0.91046	829	0.39537	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	840.98	33	chr3	41705058	.	G	A	840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.01;DP=748;ExcessHet=0.0000;FS=1.144;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=0.090;SOR=0.518	GT:AD:DP:GQ:PL	0/1:22,31:53:99:855,0,509	20	0	1	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	0/3:35,0,0,26,0:61:99:982,1091,2480,1091,2480,2480,0,1389,1389,1311,1091,2480,2480,1389,2480	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	0/3:35,0,0,26,0:61:99:982,1091,2480,1091,2480,2480,0,1389,1389,1311,1091,2480,2480,1389,2480	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	0/3:35,0,0,26,0:61:99:982,1091,2480,1091,2480,2480,0,1389,1389,1311,1091,2480,2480,1389,2480	1	3	1	0
chr3	42690989	42690989	C	A	exonic	KLHL40	.	nonsynonymous SNV	KLHL40:NM_152393:exon5:c.C1738A:p.L580I,	Nemaline myopathy 8, autosomal recessive	.	418	1070	32	2	0	36	0.0165441	.	.	251129	not_specified|Nemaline_myopathy_8	MedGen:CN169374|MONDO:MONDO:0014138,MedGen:C3809209,OMIM:615348,Orphanet:171430	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.07	T	0.008	B	0.026	B	0.000	U	0.995	D	0.55	N	-1.48	T	-0.588	T	0.284	T	0.29	1.922	12.39	2.86	1.802	3.013	10.841	0.272	.	0.0004	0.00479233	0.0038	9.827e-05	0.0005	0.0001	0	0.0008	0.0047	0.0274	0.0032794	507	154602	rs149980411	0.0018	0.0018	0.0011	0.0025	0.0239	0.0017	0.0017	0.0230	0.0227	0	0.0001	0.0029	2.521e-05	0	0.0096	0.0003	0.0020	0.0239	0.0010	0.0010	0.0007	0.0013	0.0208	0.0009	0.0008	0.0175	0.0162	7.222e-05	0	0.0003	0.0014	0	0	0	0.0005	0.0014	0.0208	0.261	0.16520	T	0.215	0.26306	T	0.008	0.14655	B	0.026	0.20792	B	0.000085	0.51296	U	0.127465	0.99482	0.42431	D	1.815	0.47718	L	-1.48	0.81150	T	-0.28	0.11547	N	0.44	0.47857	-0.5877	0.65312	T	0.284	0.65635	T	10	0.009362847	0.00211	T	.	.	.	0.272	0.58758	.	.	0.738588929954	0.73624	0.2937168994251502	0.29284	0.102050073471	0.11557	0.662876725197	0.61821	T	0.205325	0.56435	T	-0.359828	0.04139	T	-0.271391	0.47679	T	0.0191029594303526	0.00618	T	0.848715	0.53056	T	0.2388014	0.46762	0.19560993	0.43247	0.29865474	0.52783	0.20800094	0.45082	-5.193	0.38871	T	.	.	0.152	0.33619	B	.	.	3.086661	0.41541	21.4	0.97551240314746535	0.34571	0.73558	0.35980	D	AEFDBI	0.271109	0.38703	N	-0.301754593104283	0.29081	1.609612	-0.158357806851571	0.33088	1.889097	0.992624007477833	0.32908	0.580535	0.33130	0	0.547309	0.14657	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.77	2.86	0.32427	3.036000	0.49457	5.888000	0.50725	0.537000	0.25018	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:0.9049:0.0:0.0951	10.841	0.45918	363	0.84772	.	.	.	.	.	.	Likely benign	0	0	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	774.98	34	chr3	42690989	.	C	A	774.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.590e-01;DP=762;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=0.871;SOR=0.841	GT:AD:DP:GQ:PL	0/1:29,29:58:99:789,0,764	20	0	1	0
chr3	45901638	45901638	A	G	exonic	CCR9	.	nonsynonymous SNV	CCR9:NM_006641:exon2:c.A814G:p.M272V	.	.	430	1078	14	0	0	14	0.00645161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.002	B	0.004	B	0.014	N	1.000	N	-1.18	N	-0.25	T	-1.016	T	0.036	T	0.039	-0.874	0.494	-4.77	-0.680	-0.434	2.988	0.053	.	0.0062	0.00778754	0.0035	0.0183	0.0030	0.0077	0.0002	0.0008	0.0077	0.0044	0.0032665	505	154602	rs12721497	0.0015	0.0015	0.0014	0.0016	0.0146	0.0014	0.0014	0.0136	0.0131	0.0146	0.0021	0.0024	0.0126	0.0002	0.0059	0.0004	0.0027	0.0045	0.0054	0.0054	0.0052	0.0055	0.0158	0.0051	0.0049	0.0148	0.0144	0.0158	0	0.0024	0.0029	0.0071	0	0.0068	0.0006	0.0076	0.0037	0.595	0.05918	T	0.312	0.19782	T	0.002	0.09854	B	0.004	0.10090	B	0.013612	0.01369	N	3.243540	1	0.08975	N	-0.885	0.01428	N	-0.26	0.67187	T	-0.67	0.19297	N	0.079	0.06322	-1.0158	0.25078	T	0.036	0.15553	T	10	0.002496183	0.00038	T	.	.	.	0.053	0.14996	.	.	0.475895305069	0.47218	0.23581599286968885	0.23496	0.313373988863	0.33629	0.25021725893	0.03790	T	0.055519	0.30028	T	-0.619972	0.00110	T	-0.649697	0.08975	T	0.000263014320720048	0.00002	T	0.491951	0.15143	T	0.12507184	0.29329	0.06791106	0.14112	0.12507184	0.29329	0.06791106	0.14112	-2.179	0.04103	T	.	.	0.066	0.02285	B	.;.;.	.;.;.	-0.754772	0.01199	0.059	0.4566804486985091	0.03601	0.05314	0.11164	N	AEFDBI	0.149561	0.27367	N	-1.63635492234935	0.01094	0.04747692	-1.59506241510175	0.01685	0.07654117	0.999972336386365	0.50053	0.634777	0.41761	0	0.643519	0.57511	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.96	-4.77	0.02985	-0.438000	0.06975	-1.597000	0.05092	-0.133000	0.13014	0.000000	0.06391	0.000000	0.08366	0.931000	0.46843	0.303:0.213:0.3794:0.1047	2.988	0.05611	484	0.77165	.;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	3183.98	34	chr3	45901638	.	A	G	3183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.856e+00;DP=993;ExcessHet=0.0000;FS=1.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.79;ReadPosRankSum=0.478;SOR=0.818	GT:AD:DP:GQ:PL	0/1:164,131:295:99:3198,0,4407	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	0/1:36,50,0:86:99:1951,0,1357,2059,1508,3567	2	7	11	0
chr3	47122861	47122861	G	T	exonic	SETD2	.	nonsynonymous SNV	SETD2:NM_001349370:exon2:c.C1643A:p.T548K	Luscan-Lumish syndrome, Autosomal dominant	.	426	1095	1	0	0	1	0.000456413	.	.	138958	not_specified|SETD2-related_disorder|Luscan-Lumish_syndrome|not_provided	MedGen:CN169374|.|MONDO:MONDO:0014791,MedGen:C4085873,OMIM:616831,Orphanet:597738|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.321	B	0.122	B	0.027	N	0.988	D	0.695	N	1.41	T	0.003	D	0.537	D	0.409	2.458	14.18	5.43	2.823	5.487	19.439	0.183	0.0331980202772	0.0012	0.00119808	0.0009	0	0.0006	0	0	0.0015	0	0.0001	0.0008538	132	154602	rs115569620	0.0007	0.0007	0.0008	0.0007	0.0017	0.0007	0.0007	0.0009	0.0007	0.0002	0.0009	0.0038	0	0.0004	0.0017	0.0007	0.0011	0.0002	0.0009	0.0009	0.0010	0.0008	0.0033	0.0008	0.0007	0.0025	0.0023	0.0002	0	0.0033	0.0035	0	9.418e-05	0	0.0009	0.0005	0	0.001	0.78490	D	0.026	0.55759	D	0.191	0.29411	B	0.076	0.28435	B	0.026824	0.25855	N	0.327930	0.988251	0.40731	D	1.905	0.50856	L	-2.41	0.88533	D	-1.64	0.66780	N	0.249	0.28146	0.003	0.82327	D	0.537	0.82892	D	10	0.0073198676	0.00166	T	0.033198	0.54812	D	0.183	0.45592	.	.	0.5421851814	0.53871	0.3380118173653461	0.33714	0.319964451716	0.34200	0.372560381889	0.21198	T	0.137073	0.46981	T	-0.189503	0.22330	T	-0.0905361	0.64122	T	0.0312066060654883	0.02178	T	0.758824	0.38273	T	0.21491124	0.43909	0.3121517	0.57218	0.2204533	0.44600	0.34064412	0.59813	-2.542	0.06075	T	0.19143732288903312	0.25117	0.146	0.39339	B	.;.	.;.	3.867983	0.56134	23.7	0.97153023177646969	0.32595	0.98241	0.80848	D	AEFGBI	0.552052	0.56387	D	0.162005472688573	0.49382	3.139213	0.341027121746346	0.57968	3.964915	0.999999999972245	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.670488	0.60580	0	0.635551	0.53088	0	.	.	5.43	5.43	0.79006	4.628000	0.60981	11.585000	0.93367	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.439	0.94803	13	0.98894	.;.	.	.	.	.	.	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	1014.98	43	chr3	47122861	.	G	T	1014.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.550e-01;DP=881;ExcessHet=0.0000;FS=2.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.032;SOR=0.538	GT:AD:DP:GQ:PL	0/1:46,37:83:99:1029,0,1416	20	0	1	0
chr3	47910712	47910712	C	G	exonic	MAP4	.	nonsynonymous SNV	MAP4:NM_001385664:exon8:c.G3640C:p.E1214Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	N	.	.	2.59	T	-1.053	T	0.048	T	0.038	2.059	12.84	4.24	1.349	1.568	12.668	0.039	0.0128529258903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.769e-05	0.0009	6.039e-05	7.517e-05	0.0002	5.633e-05	5.225e-05	6.57e-05	6.053e-05	0	0	3.979e-05	0	0	0.0002	7.944e-05	8.687e-05	1.266e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.213	0.26467	T	.	.	.	.	.	.	.	.	.	.	1	0.31597	N	.	.	.	2.59	0.13317	T	-0.35	0.12847	N	0.167	0.17691	-1.0527	0.13655	T	0.048	0.20355	T	5	0.09787628	0.17658	T	0.012853	0.31779	T	0.039	0.10176	0.211	0.12923	0.19168177325	0.18762	.	.	.	.	.	.	.	0.022675	0.17443	T	-0.326119	0.06410	T	-0.706224	0.05492	T	0.305331349372864	0.25223	T	0.729327	0.34443	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.208	0.43448	B	.	.	2.347421	0.30093	18.33	0.98505090803648987	0.42264	0.24800	0.22505	N	AEFGBCI	.	.	.	-0.124211931171064	0.36340	2.099225	-0.149403042939749	0.33432	1.912276	0.999999966076043	0.74766	0.421363	0.06395	0	0.546412	0.12157	0	0.536957	0.11973	0	0.466023	0.07079	0	.	.	5.13	4.24	0.49486	0.771000	0.26294	2.677000	0.33989	0.599000	0.40250	0.001000	0.13787	0.986000	0.30841	0.956000	0.50813	0.0:0.8339:0.1661:0.0	12.668	0.56215	8	0.99202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	176.26	123	chr3	47910712	.	C	G	176.26	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-5.915e+00;DP=2381;ExcessHet=0.1072;FS=208.328;InbreedingCoeff=-0.1454;MLEAC=2;MLEAF=0.067;MQ=60.00;MQRankSum=0.00;QD=0.74;ReadPosRankSum=-5.470e-01;SOR=9.490	GT:AD:DP:GQ:PL	0/1:116,28:165:99:181,0,3112	13	0	2	6
chr3	48423797	48423797	C	T	exonic	PLXNB1	.	nonsynonymous SNV	PLXNB1:NM_001130082:exon3:c.G815A:p.R272H	.	.	426	1067	28	1	0	30	0.0138632	.	.	3192376	PLXNB1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.24	T	0.485	P	0.034	B	0.194	N	1.000	N	0.895	L	2.79	T	-0.975	T	0.011	T	0.108	0.278	5.503	1.82	0.431	0.774	5.463	0.021	0.0542521768028	0.0052	0.00239617	0.0047	0.0008	0.0032	0	0.0027	0.0050	0.0079	0.0100	0.0046377	717	154602	rs61729213	0.0059	0.0059	0.0056	0.0061	0.0177	0.0058	0.0057	0.0149	0.0139	0.0008	0.0032	0.0081	0.0001	0.0025	0.0177	0.0059	0.0059	0.0115	0.0040	0.0040	0.0040	0.0039	0.0106	0.0037	0.0036	0.0083	0.0074	0.0007	0.0132	0.0051	0.0072	0	0.0037	0.0204	0.0051	0.0076	0.0106	0.057	0.37966	T	0.111	0.37173	T	0.016	0.36856	B	0.001	0.22546	B	0.194289	0.16764	N	0.584617	1	0.08975	N	0.975	0.24501	L	2.79	0.11189	T	-0.94	0.25118	N	0.134	0.13484	-0.9746	0.36213	T	0.011	0.03903	T	10	0.008404374	0.00191	T	0.054252	0.65786	D	0.021	0.04004	.	.	0.20808081866	0.20439	0.39216153544610566	0.39131	0.271221807874	0.29642	0.384781897068	0.22932	T	0.086828	0.37810	T	-0.61637	0.00116	T	-0.648754	0.09042	T	0.00186751405759976	0.00019	T	0.747125	0.36981	T	0.14732799	0.33685	0.06697054	0.13791	0.14732799	0.33685	0.06697054	0.13791	-3.316	0.14285	T	.	.	0.086	0.20586	B	.;.;.	.;.;.	2.502600	0.32310	19.00	0.97602923478947878	0.34859	0.28506	0.23573	N	AEFDBCI	0.184760	0.31209	N	-0.695584778456766	0.16147	0.8201088	-0.697985827993386	0.17010	0.9025726	0.999563213366153	0.40425	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.635551	0.53088	0	.	.	4.73	1.82	0.24209	1.091000	0.30526	-0.331000	0.09890	0.545000	0.25583	0.626000	0.27965	0.063000	0.22074	0.019000	0.11356	0.0:0.4917:0.1949:0.3134	5.463	0.15923	15	0.98792	Sema domain|Sema domain|Sema domain;Sema domain|Sema domain|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	1152.98	33	chr3	48423797	.	C	T	1152.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.650e-01;DP=813;ExcessHet=0.0000;FS=1.503;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=1.44;SOR=0.843	GT:AD:DP:GQ:PL	0/1:69,48:117:99:1167,0,1811	20	0	1	0
chr3	48639758	48639758	G	A	exonic	CELSR3	.	nonsynonymous SNV	CELSR3:NM_001407:exon34:c.C9827T:p.P3276L,	.	.	421	1052	47	2	0	51	0.0236659	.	.	698156	CELSR3-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0	D	0.058	B	0.028	B	.	.	0.999	D	0.805	L	-0.48	T	-0.888	T	0.105	T	0.172	3.094	16.33	4.49	1.233	5.017	6.267	0.128	.	0.0062	0.00359425	0.0075	0.0012	0.0074	0	0.0029	0.0104	0.0168	0.0051	0.0072767	1125	154602	rs61729242	0.0079	0.0079	0.0078	0.0079	0.0390	0.0078	0.0077	0.0348	0.0332	0.0015	0.0066	0.0499	5.038e-05	0.0041	0.0390	0.0074	0.0104	0.0060	0.0062	0.0062	0.0064	0.0059	0.0080	0.0058	0.0057	0.0074	0.0072	0.0011	0	0.0060	0.0478	0	0.0036	0.0238	0.0080	0.0085	0.0060	0.0	0.91255	D	0.0	0.92824	D	0.012	0.16265	B	0.007	0.12992	B	.	.	.	.	0.999333	0.46701	D	1.65	0.42232	L	-0.48	0.70249	T	-2.7	0.57599	D	0.464	0.50056	-0.8880	0.49105	T	0.105	0.38489	T	9	0.0051828325	0.00113	T	.	.	.	0.128	0.35103	.	.	0.467483910872	0.46373	0.30267156966905423	0.30180	0.295121419121	0.31921	0.675325274467	0.63598	T	0.343702	0.71231	T	-0.371478	0.03519	T	-0.295991	0.45146	T	0.0751808807291779	0.09360	T	0.779122	0.41282	T	0.16058633	0.36010	0.17643678	0.40178	0.16058633	0.36010	0.17643678	0.40177	-4.595	0.32109	T	.	.	0.124	0.25946	B	.	.	3.561600	0.50119	22.9	0.99799961824778272	0.88461	0.94399	0.61041	D	AEFBI	0.534837	0.55372	D	-0.125447496584212	0.36285	2.095405	0.0344376320891939	0.41326	2.480925	0.999707340005375	0.41986	0.718356	0.82227	0	0.588015	0.36545	0	0.570548	0.19454	0	0.613276	0.41899	0	.	.	5.36	4.49	0.54177	5.120000	0.64523	6.362000	0.55510	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.959000	0.51448	0.1537:0.0:0.6964:0.1498	6.267	0.20143	4	0.99387	.	.	.	.	.	.	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	2738.11	35	chr3	48639758	.	G	A	2738.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.161;DP=962;ExcessHet=0.1072;FS=0.946;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.53;ReadPosRankSum=1.90;SOR=0.764	GT:AD:DP:GQ:PL	0/1:63,59:122:99:1478,0,1659	19	0	2	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	0/2:51,0,37:88:99:1358,1511,3643,0,2132,2021	0	4	6	0
chr3	50343823	50343823	C	T	exonic	ZMYND10	.	nonsynonymous SNV	ZMYND10:NM_001308379:exon3:c.G229A:p.A77T	Ciliary dyskinesia, primary, 22, Autosomal recessive	.	426	1089	7	0	0	7	0.00320366	.	.	393851	Primary_ciliary_dyskinesia_22|ZMYND10-related_disorder|Primary_ciliary_dyskinesia	MONDO:MONDO:0014192,MedGen:C3809543,OMIM:615444,Orphanet:244|.|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.003	B	0.368	N	1.000	N	1.245	L	1.58	T	-1.034	T	0.045	T	0.391	2.108	13.00	-3.87	-0.564	0.150	6.740	0.037	0.00712706899412	0.0008	0.000599042	0.0012	0.0004	0.0008	0	0	0.0016	0	0.0011	0.0012484	193	154602	rs146847253	0.0018	0.0018	0.0018	0.0017	0.0038	0.0017	0.0017	0.0026	0.0022	0.0003	0.0006	0	2.519e-05	1.872e-05	0.0038	0.0021	0.0016	0.0011	0.0013	0.0013	0.0013	0.0012	0.0020	0.0011	0.0011	0.0017	0.0016	0.0004	0.0011	0.0019	0	0	0	0.0102	0.0020	0.0019	0.0010	0.338	0.13088	T	0.44	0.13872	T	0.005	0.12996	B	0.002	0.08700	B	0.368104	0.13569	N	0.749043	1	0.08975	N	0.605	0.15622	N	1.58	0.29085	T	-0.59	0.20358	N	0.331	0.37197	-1.0344	0.19046	T	0.045	0.19152	T	10	0.011636406	0.00253	T	0.007127	0.18896	T	0.037	0.09474	.	.	0.156986980423	0.15292	0.09890056742996664	0.09821	0.154575907448	0.17459	0.263797461987	0.05351	T	0.101597	0.40851	T	-0.510755	0.00497	T	-0.513225	0.20984	T	0.00220077275298536	0.00023	T	0.673733	0.29515	T	0.03614178	0.04390	0.05513085	0.09615	0.03614178	0.04390	0.05513085	0.09614	-2.24	0.05501	T	0.09928537317409401	0.07194	0.071	0.05060	B	.;.;.	.;.;.	0.162419	0.05527	1.989	0.74155081437159531	0.10590	0.19053	0.20509	N	AEFDBI	0.109365	0.21725	N	-0.979393416882191	0.09044	0.4264509	-0.972454653425125	0.10407	0.5239344	0.999991219532478	0.74766	0.549168	0.22868	0	0.588066	0.40923	0	0.590023	0.30420	0	0.613276	0.41899	0	.	.	5.41	-3.87	0.03939	0.152000	0.16120	-1.318000	0.05730	-0.806000	0.03109	0.769000	0.29345	0.000000	0.08366	0.312000	0.24784	0.2727:0.1788:0.0:0.5485	6.740	0.22621	2	0.99499	.;.;.	.	.	.	.	.	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	855.98	35	chr3	50343823	.	C	T	855.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.281;DP=784;ExcessHet=0.0000;FS=0.974;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.03;ReadPosRankSum=-1.344e+00;SOR=0.869	GT:AD:DP:GQ:PL	0/1:29,32:61:99:870,0,743	20	0	1	0
chr3	51715262	51715262	G	A	exonic	GRM2	.	nonsynonymous SNV	GRM2:NM_001349116:exon3:c.G355A:p.A119T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.83	T	0.001	B	0.001	B	0.002	N	1.000	N	-1.49	N	-2.51	D	-0.783	T	0.146	T	0.024	-0.584	1.378	0.107	0.025	1.777	3.120	0.183	0.0601321390621	.	0.000599042	0.0003	0.0001	0	0.0040	0	0	0.0012	0	0.0002587	40	154602	rs199514469	7.073e-05	7.182e-05	7.372e-05	6.77e-05	0.0020	5.936e-05	5.543e-05	0.0016	0.0015	2.993e-05	0	0	0.0020	0	0	8.118e-06	0.0002	1.17e-05	0.0002	0.0002	0.0002	0.0002	0.0031	0.0001	0.0001	0.0019	0.0016	0.0002	0	0.0002	0	0.0031	0	0	4.41e-05	0	0	1.0	0.00964	T	0.669	0.06325	T	0.001	0.07471	B	0.001	0.04355	B	0.001610	0.38497	N	0.287924	1	0.08975	N	-1.925	0.00229	N	-2.51	0.89293	D	1.16	0.01136	N	0.092	0.07125	-0.7833	0.56115	T	0.146	0.47038	T	10	0.011984825	0.00259	T	0.060132	0.67899	D	0.183	0.45592	.	.	0.184605227958	0.18053	0.36521975968277925	0.36435	0.540505989267	0.51242	0.388336360455	0.23436	T	0.153778	0.49478	T	-0.531596	0.00376	T	-0.532093	0.19079	T	0.00896020389046705	0.00112	T	0.556144	0.19298	T	0.055308573	0.10732	0.044562824	0.05802	0.055308573	0.10732	0.044562824	0.05802	-4.426	0.29907	T	.	.	0.079	0.07318	B	.	.	0.839058	0.12109	8.659	0.38335217302895974	0.02579	0.27982	0.23428	N	AEFBI	0.099370	0.20005	N	-1.00676955614303	0.08462	0.3968842	-0.81627219124035	0.14102	0.7350812	0.069530655151558	0.15493	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.613276	0.41899	0	.	.	5.17	0.107	0.13849	1.461000	0.34866	0.562000	0.19521	-0.154000	0.11915	0.086000	0.22486	0.027000	0.21108	0.549000	0.30150	0.2103:0.1308:0.5439:0.1151	3.120	0.06003	8	0.99202	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	0	0	0	0	0	0	0	1	0	0	0	0.02381	2164.98	35	chr3	51715262	.	G	A	2164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.907;DP=854;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.36;ReadPosRankSum=-2.330e-01;SOR=0.655	GT:AD:DP:GQ:PL	0/1:83,79:162:99:2179,0,2122	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	1/2:0,10,12:22:99:907,504,475,406,0,383	5	0	8	1
chr3	52221530	52221530	C	T	exonic	TLR9	.	nonsynonymous SNV	TLR9:NM_017442:exon2:c.G2786A:p.G929D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.768	P	0.524	P	0.065	N	0.775	N	0.895	L	3.21	T	-0.994	T	0.094	T	0.491	2.358	13.84	3.7	1.315	0.093	10.645	0.063	0.0398847708698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.363e-06	2.753e-06	3.478e-05	5.5e-07	1.5e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.22486	T	0.408	0.14633	T	0.768	0.43819	P	0.524	0.48342	P	0.065482	0.21877	N	0.331465	0.775	0.29391	N	1.415	0.35607	L	3.21	0.07125	T	-0.44	0.14588	N	0.236	0.26596	-0.9944	0.31459	T	0.094	0.35524	T	10	0.304399	0.47965	T	0.039885	0.59065	D	0.063	0.18251	0.471	0.54537	0.600825740518	0.59764	0.7506626966059605	0.75013	1.14260233996	0.78981	0.509956002235	0.40216	T	0.049047	0.28194	T	-0.173547	0.24699	T	-0.487064	0.23698	T	0.298262307070348	0.24932	T	0.864914	0.56300	D	0.093324624	0.21917	0.12687534	0.30551	0.093324624	0.21916	0.12687534	0.30551	-11.37	0.81648	D	.	.	0.158	0.34970	B	.	.	3.090093	0.41606	21.4	0.98665088957205238	0.44386	0.09359	0.15131	N	AEFDBI	0.123038	0.23846	N	-0.176254798385561	0.34126	1.944068	-0.154408157303547	0.33240	1.899299	0.998796398470899	0.37689	0.706548	0.73137	0	0.724815	0.89359	0	0.578056	0.29568	0	0.567339	0.31927	0	.	.	5.51	3.7	0.41607	0.018000	0.13315	2.427000	0.32714	0.549000	0.26987	0.001000	0.13787	0.983000	0.30585	0.981000	0.58702	0.0:0.8381:0.0:0.1619	10.645	0.44807	163	0.93656	Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) domain|Toll/interleukin-1 receptor homology (TIR) 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	3060.98	33	chr3	52221530	.	C	T	3060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.110;DP=1016;ExcessHet=0.0000;FS=2.265;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.689;SOR=0.882	GT:AD:DP:GQ:PL	0/1:125,108:233:99:3075,0,3428	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|1:80,27:107:99:0|1:75730450_C_T:873,0,3278:75730450	0	0	20	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|1:93,13:106:99:0|1:75736884_G_GA:245,0,3866:75736884	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|1:97,13:110:99:0|1:75736884_G_GA:234,0,3970:75736884	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|1:109,12:121:99:0|1:75736920_C_A:176,0,4481:75736920	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|1:108,12:120:99:0|1:75736920_C_A:179,0,4479:75736920	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	0/1:86,16:102:99:183,0,2602	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	0/1:87,23:110:99:407,0,2920	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	0/1:105,31:136:99:776,0,4209	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|1:108,31:139:99:0|1:75737092_C_T:977,0,4421:75737092	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|1:108,29:137:99:0|1:75737092_C_T:893,0,4448:75737092	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|1:111,29:140:99:0|1:75737092_C_T:884,0,4574:75737092	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|1:109,26:135:99:0|1:75737092_C_T:764,0,4499:75737092	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|1:102,16:118:99:0|1:75737092_C_T:365,0,4223:75737092	0	0	21	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|1:101,50:151:99:1|0:75737511_A_T:1790,0,3984:75737511	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|1:92,53:145:99:0|1:75737590_A_G:1949,0,3647:75737590	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|1:94,60:154:99:0|1:75737590_A_G:2236,0,3766:75737590	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|1:99,58:157:99:0|1:75737590_A_G:2137,0,3982:75737590	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|1:89,64:153:99:0|1:75737590_A_G:2419,0,3544:75737590	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|1:79,56:135:99:0|1:75737590_A_G:2114,0,3149:75737590	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|1:138,39:177:99:0|1:75737814_C_T:1200,0,5482:75737814	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|1:149,28:177:99:0|1:75737881_T_C:610,0,5996:75737881	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|1:154,21:175:99:0|1:75737881_T_C:418,0,6337:75737881	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|1:151,21:172:99:0|1:75737881_T_C:427,0,6272:75737881	0	0	21	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K	.	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.236	B	0.014	B	.	.	1.000	N	0.635	N	3.2	T	-0.977	T	0.011	T	0.371	1.043	9.260	-3.59	-1.049	-1.278	0.971	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.4167	9964.28	257	chr3	75738008	.	C	T	9964.28	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-1.381e+00;DP=4529;ExcessHet=17.4423;FS=5.547;InbreedingCoeff=-0.6412;MLEAC=16;MLEAF=0.444;MQ=57.21;MQRankSum=-1.159e+01;QD=2.93;ReadPosRankSum=3.26;SOR=1.304	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,16:196:99:0|1:75737994_T_C:130,0,7473:75737994	3	0	15	3
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F	.	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.888	P	0.346	B	.	.	1.000	N	1.18	L	3.18	T	-1.017	T	0.014	T	0.416	0.583	7.147	-3.58	-1.068	-1.364	4.138	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	0.3611	6970.11	234	chr3	75738053	.	C	A	6970.11	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.270e+00;DP=4323;ExcessHet=11.8493;FS=4.208;InbreedingCoeff=-0.5294;MLEAC=14;MLEAF=0.389;MQ=57.15;MQRankSum=-1.006e+01;QD=2.47;ReadPosRankSum=-1.315e+00;SOR=1.290	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,13:179:46:0|1:75737994_T_C:46,0,6931:75737994	5	0	13	3
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	0/1:99,21:120:99:257,0,2895	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	0/1:66,25:91:99:473,0,1965	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	0/1:63,44:107:99:1266,0,1655	18	0	3	0
chr3	88156531	88156531	A	C	exonic	C3orf38	.	nonsynonymous SNV	C3orf38:NM_173824:exon3:c.A886C:p.S296R,	.	.	432	1073	17	0	0	17	0.00785945	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.903	P	0.488	P	0.000	D	1.000	D	1.59	L	.	.	-0.749	T	0.211	T	0.592	2.811	15.36	5.94	2.276	2.067	15.575	0.094	0.00771124799525	0.0008	0.00239617	0.0016	9.686e-05	0.0014	0	0	0.0010	0	0.0068	0.0015718	243	154602	rs144964842	0.0011	0.0011	0.0008	0.0013	0.0108	0.0010	0.0010	0.0086	0.0078	0.0002	0.0013	0.0002	0	0	0.0108	0.0007	0.0012	0.0060	0.0008	0.0008	0.0007	0.0009	0.0072	0.0007	0.0006	0.0054	0.0047	0.0002	0	0.0009	0.0006	0	0	0.0068	0.0008	0.0009	0.0072	0.055	0.38407	T	0.172	0.30241	T	0.903	0.49795	P	0.488	0.47288	P	0.000118	0.50451	D	0.239934	1	0.81001	D	2.095	0.58118	M	.	.	.	-1.65	0.39503	N	0.135	0.13198	-0.7493	0.57972	T	0.211	0.57161	T	9	0.005760461	0.00128	T	0.007711	0.20457	T	0.094	0.27141	0.407	0.44066	0.290590437066	0.28656	0.46539843059232	0.46458	0.421916988096	0.42699	.	.	.	0.072036	0.34354	T	-0.29569	0.09073	T	-0.195457	0.55076	T	0.045307739800619	0.04659	T	0.679032	0.28770	T	0.15625943	0.35272	0.22768274	0.47786	0.15625943	0.35271	0.22768274	0.47785	-4.038	0.24370	T	.	.	0.206	0.43200	B	.	.	2.403142	0.30876	18.57	0.99496805485098294	0.67801	0.90119	0.51049	D	AEFBI	0.227174	0.35101	N	0.266374301638923	0.54454	3.610836	0.302216373142641	0.55669	3.729846	0.99999990689436	0.74766	0.706548	0.73137	0	0.662677	0.63036	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.94	5.94	0.96165	1.793000	0.38397	3.348000	0.37762	0.756000	0.94297	0.459000	0.26636	0.986000	0.30841	0.992000	0.67800	1.0:0.0:0.0:0.0	15.575	0.76115	264	0.89640	.	.	.	.	.	.	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	887.98	37	chr3	88156531	.	A	C	887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.933e+00;DP=772;ExcessHet=0.0000;FS=2.070;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.87;ReadPosRankSum=-1.184e+00;SOR=0.970	GT:AD:DP:GQ:PL	0/1:33,36:69:99:902,0,978	20	0	1	0
chr3	97876679	97876679	G	A	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.G5485A:p.V1829I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.498	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.01203	.	.	.	.	.	.	.	0.093532234	0.16559	T	.	.	.	.	.	.	.	0.649314703251	0.64640	0.02279940728365987	0.02231	.	.	.	.	.	0.002528	0.01914	T	-0.210633	0.19290	T	-0.540336	0.18263	T	.	.	.	0.630437	0.24556	T	0.0154797435	0.00141	0.0631296	0.12458	0.0154797435	0.00141	0.0631296	0.12458	-3.973	0.23398	T	.	.	0.076	0.06114	B	.	.	-0.174721	0.03221	0.538	0.62637516100819468	0.07014	0.01068	0.03958	N	AEFBI	.	.	.	.	.	.	.	.	.	6.49206290079249E-5	0.04366	0.162113	0.03585	0	0.084543	0.02171	0	0.183335	0.04453	0	0.24566	0.04862	0	0.0777541	0.17876	4.56	0.686	0.17179	-0.430000	0.07043	0.190000	0.15733	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.5109:0.0:0.4891:0.0	7.209	0.25101	798	0.45050	.	.	.	.	.	.	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	73.95	40	chr3	97876679	.	G	A	73.95	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-4.141e+00;DP=2512;ExcessHet=0.3300;FS=138.063;InbreedingCoeff=-0.1030;MLEAC=2;MLEAF=0.053;MQ=60.00;MQRankSum=0.00;QD=0.16;ReadPosRankSum=1.12;SOR=8.801	GT:AD:DP:GQ:PL	0/1:118,31:149:68:68,0,2436	16	0	3	2
chr3	98133456	98133460	ACCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.759_763del:p.P254Sfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.704e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	611.64	118	chr3	98133455	.	GACCCC	G	611.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-8.970e-01;DP=1898;ExcessHet=0.3300;FS=172.190;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.427;SOR=7.978	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,15:104:99:0|1:98133455_GACCCC_G:177,0,3408:98133455	18	0	3	0
chr3	98133457	98133460	CCCC	-	exonic	OR5H1	.	frameshift deletion	OR5H1:NM_001005338:exon1:c.760_763del:p.P254Ffs*31,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0036	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0001	9.04e-05	0	0	5.047e-05	0	0	0.0002	0.0001	4.649e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:89,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,0,3451,3408:98133455	12	0	6	0
chr3	98133456	98133460	ACCCC	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3836.75	118	chr3	98133456	.	ACCCC	A,*	3836.75	.	AC=6,3;AF=0.143,0.071;AN=42;BaseQRankSum=-2.885e+00;DP=2067;ExcessHet=4.7172;FS=151.643;InbreedingCoeff=-0.2727;MLEAC=6,3;MLEAF=0.143,0.071;MQ=59.98;MQRankSum=0.00;QD=3.65;ReadPosRankSum=1.72;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:89,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,0,3451,3408:98133455	12	0	6	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.151	B	0.232	B	0.355	N	1.000	N	0.99	L	8.7	T	-0.977	T	0.000	T	0.282	-0.269	2.712	-0.991	0.162	-0.392	0.252	0.060	0.000569954661155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.329e-05	0.0018	6.384e-05	4.27e-05	0.0002	4.354e-05	3.971e-05	8.053e-05	5.462e-05	0.0002	0	3.884e-05	0	0	0.0002	6.21e-05	1.708e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.39334	T	0.034	0.52727	D	0.151	0.28027	B	0.232	0.38314	B	0.354555	0.13763	N	0.638540	1	0.08975	N	0.41	0.12415	N	8.7	0.00113	T	-2.42	0.53096	N	0.208	0.23125	-0.9765	0.35794	T	0.000	0.00114	T	10	0.06313068	0.08178	T	5.7E-4	0.00233	T	0.060	0.17295	0.376	0.38994	0.151104730317	0.14643	0.05160260000435715	0.05102	0.305303193982	0.32830	0.232944488525	0.02193	T	0.007444	0.06846	T	-0.267429	0.12046	T	-0.62192	0.11035	T	0.254086643457413	0.23055	T	0.806719	0.45571	T	0.06336548	0.13335	0.05555225	0.09765	0.06336548	0.13334	0.05555225	0.09764	-3.319	0.13984	T	.	.	0.103	0.18331	B	.;.	.;.	1.419986	0.18368	13.70	0.79297022959657282	0.12678	0.03061	0.07965	N	AEFI	0.062772	0.12088	N	-0.896657213234765	0.10921	0.5243543	-0.985832915716643	0.10103	0.5067427	1.9149263690292E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	-0.991	0.09712	-0.193000	0.09572	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.3369:0.2611:0.1662:0.2358	0.252	0.00192	773	0.48803	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	1	0	0	0	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:89,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,0,3451,3408:98133455	3	0	1	8
chr3	98133457	98133457	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	411.68	118	chr3	98133457	.	C	G,*	411.68	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-3.267e+00;DP=1955;ExcessHet=6.1002;FS=151.643;InbreedingCoeff=-0.5000;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.36;ReadPosRankSum=2.36;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:89,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,0,3451,3408:98133455	3	0	1	8
chr3	98133459	98133459	C	0	exonic	OR5H1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	378.19	118	chr3	98133459	.	C	G,*	378.19	.	AC=1,9;AF=0.038,0.346;AN=26;BaseQRankSum=-1.973e+00;DP=1992;ExcessHet=6.1002;FS=147.603;InbreedingCoeff=-0.5184;MLEAC=1,12;MLEAF=0.038,0.462;MQ=60.00;MQRankSum=0.00;QD=0.33;ReadPosRankSum=2.40;SOR=10.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:89,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,0,3451,3408:98133455	3	0	1	8
chr3	98133460	98133460	-	GGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:89,0,0,0,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,443,3895,3895,443,3895,3895,3895,443,3895,3895,3895,3895,0,3451,3451,3451,3451,3408:98133455	0	0	5	10
chr3	98133460	98133460	-	GGGGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGGGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:89,0,0,0,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,443,3895,3895,443,3895,3895,3895,443,3895,3895,3895,3895,0,3451,3451,3451,3451,3408:98133455	0	0	5	10
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	1.0	D	0.999	D	0.001	D	1.000	N	1.325	L	8.74	T	-0.730	T	0.001	T	0.254	0.426	6.315	3.57	1.818	-0.974	8.167	0.060	0.00117854807808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.962e-05	0.0018	9.935e-05	5.982e-05	0.0002	6.745e-05	6.308e-05	8.053e-05	7.118e-05	0.0002	0	0	2.539e-05	0	0	9.229e-05	6.835e-05	3.522e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.161	0.31326	T	1.0	0.90584	D	0.999	0.92359	D	0.000719	0.42254	D	0.000000	1	0.08975	N	1.055	0.26876	L	8.74	0.00084	T	-2.84	0.59873	D	0.082	0.05799	-0.7301	0.58959	T	0.001	0.00287	T	10	0.22429666	0.39230	T	0.001179	0.01509	T	0.060	0.17295	0.371	0.38176	0.298745278005	0.29478	0.048044440119727576	0.04747	0.654731206335	0.58542	0.272874593735	0.06519	T	0.007249	0.06665	T	-0.259952	0.12906	T	-0.61118	0.11889	T	0.845799565315247	0.49807	D	0.80082	0.44648	T	0.1752088	0.38366	0.14435342	0.34275	0.1752088	0.38366	0.14435342	0.34274	-3.447	0.15697	T	.	.	0.132	0.28492	B	.;.	.;.	2.299242	0.29417	18.12	0.98981953560601799	0.49760	0.02367	0.06739	N	AEFI	0.059639	0.11279	N	-0.196966090587521	0.33261	1.884947	-0.353468082146493	0.26402	1.458076	1.0108118885271E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	3.57	0.40014	-0.690000	0.05240	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.078000	0.17132	0.2395:0.7605:0.0:0.0	8.167	0.30391	773	0.48803	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	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:89,0,0,0,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,443,3895,3895,443,3895,3895,3895,443,3895,3895,3895,3895,0,3451,3451,3451,3451,3408:98133455	0	0	5	10
chr3	98133460	98133460	-	GTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGTGG:p.L255Rfs*16,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:89,0,0,0,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,443,3895,3895,443,3895,3895,3895,443,3895,3895,3895,3895,0,3451,3451,3451,3451,3408:98133455	0	0	5	10
chr3	98133460	98133460	-	GGTGG	exonic	OR5H1	.	frameshift insertion	OR5H1:NM_001005338:exon1:c.763_764insGGTGG:p.L255Rfs*33,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	5081.43	115	chr3	98133460	.	C	CGGGG,CGGGGG,G,CGTGG,CGGTGG	5081.43	.	AC=5,3,1,1,1;AF=0.227,0.136,0.045,0.045,0.045;AN=22;BaseQRankSum=-6.190e-01;DP=1956;ExcessHet=7.7275;FS=160.493;InbreedingCoeff=-0.6154;MLEAC=7,4,1,1,1;MLEAF=0.318,0.182,0.045,0.045,0.045;MQ=59.99;MQRankSum=0.00;QD=4.21;ReadPosRankSum=2.04;SOR=11.219	GT:AD:DP:GQ:PGT:PID:PL:PS	0|5:89,0,0,0,0,15:104:99:0|1:98133455_GACCCC_G:177,443,3895,443,3895,3895,443,3895,3895,3895,443,3895,3895,3895,3895,0,3451,3451,3451,3451,3408:98133455	0	0	5	10
chr3	98133463	98133463	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766G:p.L256V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.005	B	0.053	B	0.261	N	1.000	N	1.715	L	0.99	T	-1.004	T	0.079	T	0.179	-0.795	0.690	0.621	0.219	-0.776	1.131	0.026	0.00126498386421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.43085	D	0.068	0.44106	T	0.005	0.12996	B	0.053	0.25678	B	0.261193	0.15311	N	0.542116	1	0.08975	N	0.915	0.23335	L	0.99	0.41750	T	-2.16	0.48850	N	0.126	0.11912	-1.0038	0.28814	T	0.079	0.31466	T	10	0.049896806	0.04644	T	0.001265	0.01708	T	0.026	0.05648	0.296	0.26041	0.128392430309	0.12331	0.03494044702375308	0.03441	0.301753269651	0.32506	0.278658390045	0.07306	T	0.006	0.05345	T	-0.262441	0.12617	T	-0.614755	0.11603	T	0.125886231660843	0.14996	T	0.469153	0.13854	T	0.1777599	0.38759	0.102822304	0.24655	0.1777599	0.38758	0.102822304	0.24654	-4.104	0.25349	T	.	.	0.129	0.31151	B	.;.	.;.	1.199857	0.15918	12.19	0.77165719573394564	0.11763	0.00876	0.03464	N	AEFI	0.031298	0.03314	N	-1.1071760963484	0.06514	0.3000934	-1.14194788532371	0.06913	0.3344078	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	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	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,15,0:108:99:0|1:98133455_GACCCC_G:165,0,3515,443,3558,4002:98133455	14	0	6	0
chr3	98133463	98133463	C	T	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C766T:p.L256F,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.026	B	0.119	B	0.261	N	1.000	N	0.865	L	0.99	T	-1.030	T	0.062	T	0.114	-1.253	0.050	0.621	0.219	-0.776	1.131	0.024	0.00115650910057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	6.841e-07	0	1.376e-06	8.996e-07	0	0	.	.	0	0	0	0	0	0	8.996e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.41	0.14544	T	0.026	0.19406	B	0.119	0.32162	B	0.261193	0.15311	N	0.542116	1	0.08975	N	-0.23	0.03940	N	0.99	0.41750	T	-1.08	0.28084	N	0.105	0.08925	-1.0300	0.20454	T	0.062	0.25708	T	10	0.04290554	0.03085	T	0.001157	0.01459	T	0.024	0.04979	0.375	0.38830	0.0762999501168	0.06990	0.0487108067063726	0.04814	0.321367064236	0.34338	0.290525436401	0.08999	T	0.00438	0.03788	T	-0.322622	0.06685	T	-0.701201	0.05761	T	0.424735397100449	0.29866	T	0.652935	0.26315	T	0.046653233	0.07844	0.04369084	0.05494	0.046653233	0.07844	0.04369084	0.05494	-3.928	0.22723	T	.	.	0.131	0.34004	B	.;.	.;.	0.632429	0.10007	6.762	0.62397499402890433	0.06952	0.02895	0.07685	N	AEFI	0.070478	0.13993	N	-1.21870644392077	0.04729	0.2140418	-1.22146664885687	0.05566	0.2655665	1.71832632022719E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.57	0.621	0.16817	-1.594000	0.02198	.	.	0.385000	0.20450	0.000000	0.06391	0.000000	0.08366	0.108000	0.18652	0.1779:0.4335:0.1738:0.2148	1.131	0.01639	773	0.48803	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	1	0	0	0	0.1667	2747.51	121	chr3	98133463	.	C	G,T	2747.51	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=-4.760e+00;DP=1685;ExcessHet=2.5830;FS=151.643;InbreedingCoeff=-0.1887;MLEAC=5,1;MLEAF=0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=3.50;ReadPosRankSum=2.02;SOR=10.224	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,15,0:108:99:0|1:98133455_GACCCC_G:165,0,3515,443,3558,4002:98133455	14	0	6	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	0/1:16,10:26:95:.:.:95,0,244	4	0	17	0
chr3	111962226	111962226	G	C	exonic	PHLDB2	.	nonsynonymous SNV	PHLDB2:NM_145753:exon12:c.G2862C:p.K954N	.	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.947	P	0.95	D	0.000	D	1.000	D	1.61	L	-1.1	T	-0.094	T	0.517	D	0.348	2.149	13.14	5.1	1.496	3.728	13.759	0.232	0.0559229318279	7.7e-05	.	8.249e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs373362783	6.164e-05	6.225e-05	6.548e-05	5.775e-05	0.0002	5.08e-05	4.737e-05	6.463e-05	5.959e-05	0	0	0	0	0	0.0002	7.798e-05	1.694e-05	0	6.571e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.442	0.13252	T	0.024	0.20876	B	0.008	0.23607	B	0.000010	0.62929	D	0.113192	0.95756	0.38030	D	0.915	0.23335	L	-1.1	0.77336	T	-0.02	0.13418	N	0.463	0.53269	-0.0938	0.80241	T	0.517	0.81908	D	10	0.20904532	0.37254	T	0.055923	0.66415	D	0.232	0.53354	0.203	0.11797	0.80904478547	0.80725	0.30902759062559415	0.30815	0.108778798742	0.12267	0.717550635338	0.69690	T	0.006793	0.10227	T	-0.0760964	0.40346	T	-0.232129	0.51566	T	0.416476011276245	0.29560	T	0.917608	0.70392	D	0.14024718	0.32365	0.14205018	0.33808	0.14024718	0.32365	0.14205018	0.33807	-12.905	0.90529	D	.	.	0.533	0.68999	A	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	3.033045	0.40636	21.2	0.99408767937283327	0.63169	0.93832	0.59319	D	AEFGBCI	0.654486	0.62715	D	0.0520007836491433	0.44233	2.701229	0.197084654955424	0.49685	3.168956	0.99999985985611	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.99	5.1	0.68917	4.080000	0.57342	5.734000	0.49537	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8461:0.1539	13.759	0.62439	580	0.69689	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1918.98	33	chr3	111962226	.	G	C	1918.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.760e+00;DP=858;ExcessHet=0.0000;FS=1.883;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=0.103;SOR=0.544	GT:AD:DP:GQ:PL	0/1:87,88:175:99:1933,0,2092	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	1/4:0,23,0,0,25,0:48:99:1862,1000,1077,1898,1080,1975,1898,1080,1975,1975,911,0,930,930,856,1898,1080,1975,1975,930,1975	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	1/4:0,23,0,0,25,0:48:99:1862,1000,1077,1898,1080,1975,1898,1080,1975,1975,911,0,930,930,856,1898,1080,1975,1975,930,1975	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	1/4:0,23,0,0,25,0:48:99:1862,1000,1077,1898,1080,1975,1898,1080,1975,1975,911,0,930,930,856,1898,1080,1975,1975,930,1975	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	1/4:0,23,0,0,25,0:48:99:1862,1000,1077,1898,1080,1975,1898,1080,1975,1975,911,0,930,930,856,1898,1080,1975,1975,930,1975	0	4	0	0
chr3	121623199	121623199	C	G	exonic	FBXO40	.	nonsynonymous SNV	FBXO40:NM_016298:exon3:c.C1770G:p.S590R,	.	.	428	1090	4	0	0	4	0.0018315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.999	D	0.000	D	1.000	D	2.175	M	0.56	T	-0.478	T	0.307	T	0.981	2.180	13.24	4.07	0.950	0.431	11.202	0.511	0.0568068349495	7.7e-05	.	5.771e-05	0	0	0	0	7.501e-05	0.0011	6.058e-05	4.53e-05	7	154602	rs368217296	3.078e-05	3.078e-05	2.586e-05	3.575e-05	0.0016	2.347e-05	2.095e-05	0.0008	0.0006	0	0	0	0	0	0.0016	1.709e-05	3.311e-05	0.0002	6.571e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.003	0.68238	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999701	0.48408	D	2.815	0.81989	M	0.56	0.54540	T	-3.76	0.71276	D	0.912	0.91391	-0.4781	0.69437	T	0.307	0.67759	T	10	0.91602004	0.90963	D	0.056807	0.66737	D	0.511	0.79033	0.728	0.86198	0.727196491074	0.72477	0.7715680771226404	0.77106	0.522662346704	0.49986	0.594224452972	0.52090	T	0.443571	0.78730	T	0.0651341	0.60252	T	0.0924527	0.76408	D	0.816393435001373	0.47507	D	0.878012	0.59262	D	0.68635803	0.77313	0.61243856	0.77450	0.68635803	0.77314	0.61243856	0.77451	-8.478	0.64283	D	.	.	0.972	0.89696	P	.	.	2.958762	0.39395	21.0	0.99711562716009672	0.81353	0.82995	0.42152	D	AEFGBI	0.284259	0.39717	N	0.208248487188359	0.51597	3.339797	0.181645821250187	0.48843	3.094785	0.00262568191382908	0.09584	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.16	4.07	0.46726	0.453000	0.21523	-0.323000	0.09949	-0.827000	0.02907	0.994000	0.38300	0.000000	0.08366	0.962000	0.52141	0.0:0.7754:0.0:0.2246	11.202	0.47975	354	0.85282	F-box domain|F-box 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	1150.98	38	chr3	121623199	.	C	G	1150.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=846;ExcessHet=0.0000;FS=5.326;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=-1.717e+00;SOR=1.232	GT:AD:DP:GQ:PL	0/1:48,41:89:99:1165,0,1219	20	0	1	0
chr3	122407349	122407349	C	T	exonic	FAM162A	.	nonsynonymous SNV	FAM162A:NM_014367:exon4:c.C332T:p.T111M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	0.998	D	2.945	M	0.33	T	-0.044	T	0.442	T	0.754	3.195	16.70	5.48	2.861	5.148	14.735	0.434	0.024124601222	.	0.000399361	5.801e-05	0	0	0	0	5.998e-05	0	0.0002	5.82e-05	9	154602	rs192168910	2.531e-05	2.531e-05	1.77e-05	3.3e-05	0.0002	1.868e-05	1.631e-05	0.0001	0.0001	0.0001	2.236e-05	0	0	0	0	1.169e-05	0	0.0002	1.972e-05	1.969e-05	2.571e-05	1.345e-05	4.411e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0	0	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.984	0.82059	D	0.000000	0.84330	D	0.000000	0.998417	0.44886	D	3.455	0.92281	M	0.33	0.58323	T	-5.65	0.87988	D	0.681	0.73195	-0.0436	0.81342	T	0.442	0.77996	T	10	0.67264986	0.70805	D	0.024125	0.47114	T	0.434	0.73951	.	.	0.847343960394	0.84588	0.9789715339772871	0.97888	0.869077786447	0.69330	0.619163870811	0.55611	T	0.22133	0.61148	T	0.036972	0.56647	T	0.0179852	0.71500	D	0.94375479221344	0.61923	D	0.941606	0.78180	D	0.8061549	0.84302	0.73819023	0.84525	0.8061549	0.84303	0.73819023	0.84526	-10.662	0.77772	D	.	.	0.365	0.57554	A	.;.;.	.;.;.	5.053819	0.84195	28.2	0.99903144242481068	0.97426	0.94132	0.60209	D	AEFGBI	0.850700	0.76754	D	0.77084504987289	0.84256	8.236882	0.684177440956802	0.81178	7.466219	0.999995492719852	0.74766	0.732398	0.92422	0	0.723133	0.82719	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.48	5.48	0.80675	4.771000	0.62011	6.019000	0.52765	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.859000	0.40722	0.0:1.0:0.0:0.0	14.735	0.69023	478	0.77585	.;.;.	.	.	.	.	.	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	959.98	33	chr3	122407349	.	C	T	959.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.24;DP=783;ExcessHet=0.0000;FS=1.688;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.11;ReadPosRankSum=-6.650e-01;SOR=0.712	GT:AD:DP:GQ:PL	0/1:57,38:95:99:974,0,1310	20	0	1	0
chr3	122915494	122915494	C	A	exonic	SEMA5B	.	nonsynonymous SNV	SEMA5B:NM_001256348:exon13:c.G1760T:p.R587L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.988	D	0.888	P	0.000	N	1.000	D	1.205	L	2.3	T	-1.113	T	0.072	T	0.816	4.265	22.3	3.86	1.159	3.100	13.313	0.266	0.0271615656054	.	.	2.491e-05	0	0	0	0	4.526e-05	0	0	1.94e-05	3	154602	rs751602604	5.474e-06	6.156e-06	4.084e-06	6.877e-06	7.195e-06	2.36e-06	1.7e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.55530	D	0.042	0.57587	D	0.979	0.59044	D	0.776	0.57120	P	0.000000	0.84330	N	0.052661	0.999998	0.58761	D	1.455	0.36767	L	2.3	0.16953	T	-4.15	0.75297	D	0.469	0.57775	-1.1130	0.02824	T	0.072	0.29195	T	10	0.43907714	0.57984	T	0.027162	0.50001	D	0.266	0.57999	0.425	0.47021	0.546306241058	0.54285	0.5987394325557115	0.59804	1.01298021162	0.74837	0.393195450306	0.24119	T	0.426602	0.77634	T	-0.0322825	0.47085	T	-0.176491	0.56846	T	0.936541497707367	0.60563	D	0.844815	0.52285	T	0.5152668	0.67987	0.3882292	0.63672	0.5152668	0.67988	0.3882292	0.63672	-5.5	0.41868	T	.	.	0.096	0.17146	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.793859	0.54627	23.5	0.99823649383112245	0.90590	0.94583	0.61639	D	AEFDBI	0.717768	0.66917	D	0.34733662851886	0.58599	4.033122	0.336665645191031	0.57707	3.937611	0.980646401855209	0.30160	0.695654	0.57023	0	0.578056	0.33634	0	0.723109	0.80598	0	0.542086	0.14980	0	.	.	4.75	3.86	0.43689	2.722000	0.46939	1.428000	0.26422	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1591:0.8409:0.0:0.0	13.313	0.59828	699	0.57969	.;.;.;.;.;.;.	.	.	.	.	.	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	1149.98	33	chr3	122915494	.	C	A	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.307e+00;DP=791;ExcessHet=0.0000;FS=0.779;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.62;ReadPosRankSum=-1.373e+00;SOR=0.608	GT:AD:DP:GQ:PL	0/1:51,48:99:99:1164,0,1283	20	0	1	0
chr3	125012932	125012932	G	C	exonic	HEG1	.	nonsynonymous SNV	HEG1:NM_020733:exon6:c.C2647G:p.L883V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.015	B	0.016	B	0.970	U	1.000	N	0	N	-2.31	D	-0.799	T	0.317	T	0.122	1.039	9.243	-1.34	-0.405	0.530	1.723	0.101	0.0540352125703	.	.	1.656e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs754504666	2.052e-06	2.052e-06	1.361e-06	2.751e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.26519	T	0.204	0.27235	T	0.015	0.17086	B	0.007	0.12992	B	0.969826	0.08166	U	0.978980	1	0.08975	N	0	0.06538	N	-2.31	0.87750	D	0.35	0.03761	N	0.064	0.03613	-0.7986	0.55227	T	0.317	0.68682	T	10	0.06807715	0.09577	T	0.054035	0.65701	D	0.101	0.28911	0.392	0.41606	0.731102201737	0.72871	0.28231597016125304	0.28144	0.109492478908	0.12349	0.229819193482	0.01954	T	0.025633	0.19130	T	-0.120828	0.32989	T	-0.395852	0.33867	T	0.0410198347446246	0.03876	T	0.648535	0.25952	T	0.028463203	0.02186	0.0242524	0.00442	0.028463203	0.02186	0.0242524	0.00442	-2.693	0.07245	T	.	.	0.078	0.06849	B	.	.	0.722556	0.10914	7.586	0.88864588198854055	0.18318	0.21301	0.21353	N	AEFDGBI	0.078250	0.15784	N	-1.10262571229657	0.06596	0.3041011	-1.13551541946373	0.07031	0.3405072	0.99999870263115	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	4.54	-1.34	0.08665	0.770000	0.26280	.	.	0.676000	0.76740	0.128000	0.23311	0.027000	0.21108	0.005000	0.06747	0.1567:0.1304:0.3685:0.3444	1.723	0.02740	496	0.76301	.	.	.	.	.	.	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	2220.98	82	chr3	125012932	.	G	C	2220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.859e+00;DP=1615;ExcessHet=0.0000;FS=5.220;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.892;SOR=0.422	GT:AD:DP:GQ:PL	0/1:98,86:184:99:2235,0,2862	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	0/1:52,14:66:99:.:.:137,0,1246	7	0	14	0
chr3	132579529	132579529	T	C	exonic	ACAD11	.	nonsynonymous SNV	ACAD11:NM_032169:exon14:c.A1651G:p.I551V,	.	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.003	B	0.018	B	.	.	1.000	D	0.88	L	-3.6	D	-0.464	T	0.615	D	0.186	1.104	9.503	-1.38	-0.479	0.566	6.231	0.221	0.0533793123298	0.0008	0.000998403	0.0013	9.699e-05	0.0005	0	0	0.0011	0.0033	0.0042	0.001119	173	154602	rs145935457	0.0008	0.0008	0.0007	0.0010	0.0089	0.0008	0.0008	0.0069	0.0062	2.992e-05	0.0005	0.0107	0	0	0.0089	0.0004	0.0017	0.0042	0.0009	0.0009	0.0008	0.0010	0.0064	0.0008	0.0007	0.0046	0.0040	7.218e-05	0	0.0008	0.0107	0.0002	0	0.0274	0.0006	0.0019	0.0064	0.386	0.10980	T	0.338	0.18125	T	0.003	0.11197	B	0.018	0.18489	B	.	.	.	.	0.984071	0.40097	D	0.78	0.19475	N	-3.6	0.95009	D	-0.65	0.18877	N	0.192	0.21056	-0.4637	0.69944	T	0.615	0.86405	D	9	0.00823307	0.00187	T	0.053379	0.65443	D	0.221	0.51721	.	.	0.259272394797	0.25527	0.5479051598771657	0.54716	0.138649771766	0.15636	.	.	.	0.327657	0.69814	T	-0.309363	0.07805	T	-0.217299	0.52996	T	0.00530825462553219	0.00057	T	0.884611	0.60805	D	0.039101075	0.05337	0.096476026	0.22923	0.039101075	0.05336	0.096476026	0.22923	-6.449	0.49891	T	.	.	0.058	0.00717	B	.	.	1.120952	0.15069	11.56	0.83646762694468668	0.14841	0.72327	0.35405	D	AEFBCI	0.178518	0.30579	N	-0.728291780588858	0.15229	0.7656956	-0.666587281659472	0.17798	0.9480021	0.734480457036703	0.23107	0.706298	0.61202	0	0.709663	0.81188	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.54	-1.38	0.08554	0.695000	0.25205	-2.528000	0.03645	0.609000	0.47794	0.999000	0.42656	0.000000	0.08366	0.959000	0.51448	0.0:0.2757:0.122:0.6023	6.231	0.19947	834	0.38640	Acyl-CoA oxidase/dehydrogenase, central 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	525.98	43	chr3	132579529	.	T	C	525.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.435e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.41;ReadPosRankSum=1.36;SOR=0.675	GT:AD:DP:GQ:PL	0/1:44,27:71:99:540,0,1136	20	0	1	0
chr3	151437075	151437075	-	TTCT	exonic	IGSF10	.	frameshift insertion	IGSF10:NM_001178145:exon2:c.1422_1423insAGAA:p.A475Rfs*6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.766e-05	0	8.637e-05	0	0	8.992e-05	0	0	4.53e-05	7	154602	rs757939873	4.788e-05	4.788e-05	5.173e-05	4.4e-05	5.755e-05	3.86e-05	3.54e-05	4.612e-05	4.197e-05	2.987e-05	4.472e-05	0	2.519e-05	0	0	5.755e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.412e-05	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	4577.94	119	chr3	151437075	.	C	CTTCT	4577.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.831;DP=2720;ExcessHet=0.0000;FS=3.651;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.65;ReadPosRankSum=-1.173e+00;SOR=0.929	GT:AD:DP:GQ:PL	0/1:114,119:233:99:4592,0,4430	20	0	1	0
chr3	155853645	155853645	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353T:p.P118L	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2825036	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.924	5.278	33	5.57	2.788	7.646	19.982	0.916	0.180330631785	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-9.7	0.98602	D	0.933	0.93841	0.779	0.94149	D	0.787	0.92761	D	10	0.9592407	0.95314	D	0.180331	0.85482	D	0.916	0.97814	0.831	0.94042	0.971361032142	0.97104	0.9490389787202539	0.94886	2.26454559714	0.96209	0.848731040955	0.89423	D	0.814515	0.95400	D	0.434457	0.91756	D	0.386291	0.91653	D	0.999908089637756	0.99629	D	0.999721	0.99933	D	0.9729656	0.98529	0.93255115	0.97270	0.9729656	0.98529	0.93255115	0.97270	-13.696	0.92027	D	0.9927983798285628	0.99830	0.978	0.91951	P	.;.;.;.	.;.;.;.	5.608546	0.92513	32	0.9991421996857478	0.98309	0.83916	0.43007	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,26:104:99:0|1:155853644_G_C:339,573,3431,0,2858,2784:155853644	6	0	2	4
chr3	155853645	155853645	G	C	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C353G:p.P118R	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1016191	Hereditary_spastic_paraplegia_42	MONDO:MONDO:0012928,MedGen:C2675528,OMIM:612539,Orphanet:171863	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.69	H	-1.41	T	0.779	D	0.787	D	0.955	4.886	28.0	5.57	2.788	7.646	19.982	0.936	0.221168805032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0016	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0009	0	0.0003	0.0002	0	0.0002	0.0008	0.0006	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	4.29	0.98219	H	-1.41	0.80560	T	-8.72	0.97670	D	0.955	0.96416	0.779	0.94149	D	0.787	0.92761	D	10	0.9656291	0.96041	D	0.221169	0.87793	D	0.936	0.98563	0.852	0.95318	0.981310105081	0.98110	0.9652344313428964	0.96510	2.3006740423	0.96469	0.845638930798	0.88955	D	0.814515	0.95400	D	0.434482	0.91756	D	0.386327	0.91654	D	0.999483108520508	0.97590	D	0.999658	0.99877	D	0.97771263	0.98930	0.9704348	0.99484	0.97771263	0.98930	0.9704348	0.99484	-15.861	0.97545	D	0.9924786288168476	0.99821	0.997	0.97160	P	.;.;.;.	.;.;.;.	5.657968	0.92855	33	0.99869421297510097	0.94726	0.91924	0.54558	D	AEFDBCI	.	.	.	1.03282578913964	0.96667	14.98475	0.957979052715463	0.97636	16.478	1.0	0.98316	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	5.57	0.84021	7.744000	0.83944	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	19.982	0.97333	839	0.37672	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3235	3698.37	37	chr3	155853645	.	G	A,C	3698.37	.	AC=2,9;AF=0.059,0.265;AN=34;BaseQRankSum=-3.879e+00;DP=2059;ExcessHet=7.7275;FS=226.061;InbreedingCoeff=-0.4474;MLEAC=2,10;MLEAF=0.059,0.294;MQ=60.00;MQRankSum=0.00;QD=2.91;ReadPosRankSum=1.31;SOR=11.670	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:78,0,26:104:99:0|1:155853644_G_C:339,573,3431,0,2858,2784:155853644	6	0	2	4
chr3	155853646	155853646	G	A	exonic	SLC33A1	.	nonsynonymous SNV	SLC33A1:NM_001190992:exon1:c.C352T:p.P118S	Congenital cataracts, hearing loss, and neurodegeneration, Autosomal recessive;Spastic paraplegia 42, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.345	M	-1.38	T	0.736	D	0.747	D	0.921	4.706	26.1	4.67	1.443	9.529	16.551	0.884	0.26441884066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.048477	1	0.81001	D	3.19	0.88972	M	-1.38	0.80301	T	-7.83	0.96005	D	0.908	0.90932	0.736	0.93619	D	0.747	0.91359	D	10	0.9726635	0.96917	D	0.264419	0.89636	D	0.884	0.96614	0.878	0.96734	0.965889320013	0.96552	0.9090685925036052	0.90880	2.253141148	0.96121	0.804085373878	0.82587	D	0.791811	0.94599	D	0.429981	0.91531	D	0.379861	0.91426	D	0.999662041664124	0.98390	D	0.999705	0.99908	D	0.9068161	0.92000	0.9047807	0.95316	0.9068161	0.92001	0.9047807	0.95317	-12.527	0.87323	D	0.973445658806593	0.99205	0.989	0.94165	P	.;.;.;.	.;.;.;.	5.407850	0.90534	31	0.99921391491893274	0.98787	0.94332	0.60828	D	AEFDBCI	.	.	.	0.924929507467059	0.92926	11.71334	0.845487219852171	0.92750	11.60935	0.999999999962498	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.56214	0.19341	0	.	.	5.57	4.67	0.58089	9.628000	0.97812	11.860000	0.98299	0.675000	0.71128	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.1307:0.8693:0.0	16.551	0.84321	839	0.37672	.;.;.;.	.	.	.	.	.	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	0.04762	636.11	37	chr3	155853646	.	G	A	636.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.810e+00;DP=1180;ExcessHet=0.1072;FS=236.570;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=2.78;ReadPosRankSum=1.31;SOR=8.189	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,26:104:99:0|1:155853644_G_C:339,0,2784:155853644	19	0	2	0
chr3	160279203	160279203	C	T	exonic	IFT80	.	nonsynonymous SNV	IFT80:NM_001190242:exon15:c.G1415A:p.R472H	Short-rib thoracic dysplasia 2 with or without polydactyly, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1506664	Asphyxiating_thoracic_dystrophy_2|Jeune_thoracic_dystrophy|Inborn_genetic_diseases	MONDO:MONDO:0012644,MedGen:C1970005,OMIM:611263,Orphanet:474|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500,Orphanet:474|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.999	D	0.828	P	0.000	U	1.000	D	2.99	M	-1.65	D	0.580	D	0.743	D	0.628	5.402	34	6.16	2.937	6.572	20.860	0.488	0.0466046143903	.	0.000399361	0.0002	0	0	0	0	6.024e-05	0	0.0015	0.000194	30	154602	rs540494495	0.0001	0.0001	5.859e-05	0.0002	0.0012	9.543e-05	9.023e-05	0.0010	0.0010	0	0.0003	0	0	3.746e-05	0.0002	1.44e-05	0.0004	0.0012	0.0002	0.0002	9.006e-05	0.0003	0.0017	0.0002	0.0001	0.0012	0.0010	0	0	0.0017	0	0	0	0	1.471e-05	0	0.0010	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.828	0.59497	P	0.000013	0.62929	U	0.000000	1	0.81001	D	3.145	0.88303	M	-1.65	0.82625	D	-4.79	0.80595	D	0.452	0.50056	0.580	0.91633	D	0.743	0.91234	D	10	0.09273207	0.16354	T	0.046605	0.62536	D	0.488	0.77592	0.608	0.74063	0.973651426202	0.97337	0.7351218363354969	0.73457	0.709233933603	0.61606	0.680535495281	0.64345	T	0.656945	0.89657	D	-0.110427	0.34697	T	0.0553734	0.73938	D	0.249197751955647	0.22837	T	0.956054	0.86917	D	0.5505063	0.69984	0.53923684	0.73371	0.59452665	0.72396	0.53239524	0.72981	-10.814	0.78628	D	0.6112148087879712	0.67882	0.168	0.44656	B	.;.;.	.;.;.	5.640140	0.92738	33	0.9993809597529355	0.99698	0.97181	0.73167	D	AEFBI	0.797111	0.72404	D	0.919338230292754	0.92674	11.56134	0.904705048149724	0.95774	13.95488	0.999999258883939	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.659464	0.59346	0	0.727631	0.95156	0	.	.	6.16	6.16	0.99302	6.651000	0.74224	7.607000	0.61769	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	20.860	0.99763	354	0.85282	.;.;.	.	.	.	.	.	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	372.98	33	chr3	160279203	.	C	T	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.400e-02;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.10;ReadPosRankSum=0.440;SOR=0.683	GT:AD:DP:GQ:PL	0/1:27,14:41:99:387,0,775	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|1:65,11:76:2:0|1:160404346_G_C:2,0,2244:160404346	19	0	2	0
chr3	169806873	169806873	C	T	exonic	LRRC34	.	nonsynonymous SNV	LRRC34:NM_001172779:exon5:c.G503A:p.G168E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	0.674	N	2.76	M	0.65	T	-0.283	T	0.318	T	0.605	3.699	18.79	3.48	1.241	3.411	13.171	0.265	0.0455186919057	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1213880857	6.875e-07	6.841e-07	0	1.381e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.008	0.69154	D	0.991	0.64070	D	0.881	0.62579	P	0.000078	0.52346	D	0.167364	0.674216	0.30337	N	.	.	.	0.65	0.52642	T	-3.88	0.72710	D	0.661	0.71321	-0.2828	0.75464	T	0.318	0.68717	T	10	0.75907004	0.76206	D	0.045519	0.62018	D	0.265	0.57870	.	.	0.669029919475	0.66624	0.8409553897529126	0.84055	0.413300811433	0.42045	0.509241223335	0.40115	T	.	.	.	-0.0549936	0.43685	T	-0.216141	0.53108	T	0.978346168994904	0.72280	D	0.89951	0.67561	D	0.5146963	0.67953	0.5896118	0.76191	0.5146963	0.67954	0.5896118	0.76192	-13.996	0.93043	D	.	.	0.725	0.80161	P	.;.;.	.;.;.	4.396656	0.67894	25.2	0.99694369254691806	0.80180	0.94545	0.61513	D	AEFBI	0.650831	0.62480	D	0.581571992359402	0.72026	5.741215	0.506046175541306	0.68398	5.214334	0.0108635152878121	0.12094	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.567892	0.33627	0	.	.	5.43	3.48	0.38946	3.838000	0.55532	3.302000	0.37391	0.595000	0.32841	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.5376:0.4624:0.0	13.171	0.59017	381	0.83684	.;.;.	.	.	.	.	.	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	448.98	33	chr3	169806873	.	C	T	448.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.938;DP=747;ExcessHet=0.0000;FS=5.443;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.48;ReadPosRankSum=0.698;SOR=1.453	GT:AD:DP:GQ:PL	0/1:38,22:60:99:463,0,891	20	0	1	0
chr3	183833522	183833522	G	A	exonic	PARL	.	nonsynonymous SNV	PARL:NM_001324437:exon7:c.C746T:p.A249V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.985	D	0.842	P	0.000	D	1.000	D	1.9	L	2.75	T	-0.494	T	0.359	T	0.899	5.428	35	5.63	2.814	9.869	18.224	0.256	0.023301261884	7.7e-05	0.000399361	4.123e-05	9.641e-05	0	0.0003	0	0	0	6.063e-05	4.53e-05	7	154602	rs200914846	2.123e-05	2.121e-05	1.771e-05	2.477e-05	0.0004	1.521e-05	1.325e-05	0.0003	0.0002	0	0	0	0.0004	0	0	7.202e-06	4.972e-05	4.638e-05	1.971e-05	1.969e-05	2.571e-05	1.344e-05	0.0002	5.24e-06	2.45e-06	.	.	2.408e-05	0	0	0	0.0002	0	0	0	0	0.0002	0.0	0.91255	D	0.052	0.47581	T	0.964	0.61118	D	0.749	0.60272	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	2.52	0.14160	T	-3.83	0.72120	D	0.893	0.89242	-0.4945	0.68847	T	0.359	0.72108	T	10	0.5411979	0.63729	D	0.023301	0.46253	T	0.440	0.74377	.	.	0.806639463257	0.80482	0.9212983865608144	0.92105	0.174593514633	0.19662	0.738117814064	0.72695	T	0.188691	0.57049	T	0.105263	0.64856	D	0.094955	0.76574	D	0.837149977684021	0.49096	D	0.90461	0.80130	D	0.87109786	0.88948	0.83844185	0.90735	0.87109786	0.88949	0.83844185	0.90736	-11.5	0.83002	D	.	.	0.481	0.75966	A	.;.;.;.;.	.;.;.;.;.	5.834744	0.93754	33	0.99897262271100851	0.96971	0.99621	0.98069	D	AEFDBI	0.923384	0.89980	D	0.600037503795509	0.73178	5.923791	0.685204867481171	0.81256	7.484157	0.999999999997461	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.63	5.63	0.86108	10.003000	0.99689	11.797000	0.96542	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.224	0.89849	604	0.67577	.;Peptidase S54, rhomboid domain;Peptidase S54, rhomboid 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	1811.98	33	chr3	183833522	.	G	A	1811.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.800e-01;DP=826;ExcessHet=0.0000;FS=0.762;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.04;ReadPosRankSum=0.337;SOR=0.592	GT:AD:DP:GQ:PL	0/1:45,68:113:99:1826,0,1127	20	0	1	0
chr3	186677539	186677539	C	T	exonic	HRG	.	stopgain	HRG:NM_000412:exon7:c.C1234T:p.Q412X,	Thrombophilia due to HRG deficiency, Autosomal dominant;Thrombophilia due to elevated HRG, Autosomal dominant	.	0	1518	4	0	0	4	0.00131579	.	.	85879	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.3	T	.	.	.	.	0.455	N	1.000	D	.	.	.	.	.	.	.	.	.	2.185	13.26	1.37	0.160	-0.099	6.219	.	.	.	0.00259585	0.0026	0	0.0002	0	0	1.641e-05	0.0025	0.0186	0.0019857	307	154602	rs201151195	0.0010	0.0010	0.0006	0.0014	0.0156	0.0009	0.0009	0.0149	0.0146	5.98e-05	4.479e-05	0	2.528e-05	0	0.0002	4.502e-06	0.0011	0.0156	0.0004	0.0004	0.0002	0.0007	0.0133	0.0004	0.0003	0.0107	0.0097	2.407e-05	0	0	0	0.0004	0	0	0	0.0005	0.0133	.	.	.	.	.	.	.	.	.	.	.	.	0.454542	0.12466	N	0.713268	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.529	0.55799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0204881	0.54449	T	0.270279	0.86589	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.960130	0.94190	33	0.9571053085637391	0.27618	0.02230	0.06479	N	AEFDBI	0.140269	0.26212	N	0.107984497227115	0.46836	2.917878	-0.259473230554054	0.29446	1.649812	1.18559266363039E-4	0.05269	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.51	1.37	0.21200	-0.042000	0.12016	-2.577000	0.03589	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.240000	0.23001	0.0:0.5409:0.3507:0.1084	6.219	0.19881	940	0.13648	.	.	.	.	.	.	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	3242.98	33	chr3	186677539	.	C	T	3242.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.096e+00;DP=2194;ExcessHet=0.0000;FS=3.300;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=-1.167e+00;SOR=0.521	GT:AD:DP:GQ:PL	0/1:159,126:285:99:3257,0,4491	20	0	1	0
chr3	194652863	194652863	G	A	exonic	LSG1	.	nonsynonymous SNV	LSG1:NM_018385:exon8:c.C1039T:p.R347W,	.	.	418	1087	16	1	0	18	0.00821168	.	.	708746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.02	D	0.288	B	0.013	B	0.191	N	1.000	N	0	N	2.47	T	-1.024	T	0.023	T	0.321	2.654	14.84	5.05	2.818	2.910	14.296	0.063	0.00562252498956	0.0008	0.00179712	0.0018	0	0.0004	0.0053	0.0003	0.0008	0.0022	0.0068	0.0016041	248	154602	rs114485048	0.0013	0.0013	0.0011	0.0016	0.0125	0.0013	0.0012	0.0116	0.0112	0.0003	0.0006	0.0007	0.0125	0.0001	0.0017	0.0007	0.0012	0.0064	0.0009	0.0009	0.0008	0.0009	0.0050	0.0007	0.0007	0.0034	0.0029	0.0001	0	0.0008	0	0.0044	0.0004	0	0.0009	0.0014	0.0050	0.018	0.50676	D	0.035	0.52389	D	0.288	0.32258	B	0.013	0.16460	B	0.191137	0.16843	N	0.629990	1	0.08975	N	0	0.06538	N	2.47	0.14783	T	-1.91	0.44471	N	0.145	0.14622	-1.0241	0.22377	T	0.023	0.09832	T	10	0.004511744	0.00093	T	0.005623	0.14530	T	0.063	0.18251	.	.	0.199424873507	0.19547	0.2702288715631526	0.26935	0.111146524575	0.12538	0.187256425619	0.00180	T	0.011915	0.10560	T	-0.512927	0.00483	T	-0.506114	0.21714	T	0.021339974902978	0.00837	T	0.735426	0.35200	T	0.09848784	0.23231	0.11134898	0.26859	0.09848784	0.23231	0.11134898	0.26858	-6.078	0.46927	T	.	.	0.075	0.05360	B	.	.	2.509451	0.32405	19.03	0.99308237146486011	0.58906	0.71099	0.34868	D	AEFDGBI	0.245212	0.36619	N	-0.45538030160156	0.23558	1.265935	-0.379516748495026	0.25608	1.409328	0.953167897630978	0.28058	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	5.93	5.05	0.67566	2.970000	0.48932	2.038000	0.30286	0.618000	0.50648	0.124000	0.23245	0.016000	0.20520	0.019000	0.11356	0.0733:0.0:0.9267:0.0	14.296	0.65869	921	0.19240	Circularly permuted (CP)-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2935.98	36	chr3	194652863	.	G	A	2935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=957;ExcessHet=0.0000;FS=3.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.364;SOR=0.481	GT:AD:DP:GQ:PL	0/1:110,115:225:99:2950,0,2648	20	0	1	0
chr3	195778964	195778964	C	0	exonic	MUC4	.	.	.	.	.	456	799	118	0	149	267	0.0687646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2692	1929.74	302	chr3	195778964	.	C	*,T	1929.74	.	AC=5,2;AF=0.192,0.077;AN=26;BaseQRankSum=1.84;DP=7379;ExcessHet=2.9153;FS=0.592;InbreedingCoeff=-0.2440;MLEAC=7,3;MLEAF=0.269,0.115;MQ=57.13;MQRankSum=-5.602e+00;QD=0.71;ReadPosRankSum=-4.412e+00;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:320,0,68:388:99:0|1:195778917_G_C:1234,2187,14657,0,12471,12267:195778917	6	0	5	8
chr3	195778967	195778967	G	0	exonic	MUC4	.	.	.	.	.	444	848	112	0	118	230	0.0619469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2083	1663.5	302	chr3	195778967	.	G	C,*	1663.5	.	AC=2,3;AF=0.083,0.125;AN=24;BaseQRankSum=2.58;DP=7152;ExcessHet=1.3830;FS=0.614;InbreedingCoeff=-0.1308;MLEAC=3,5;MLEAF=0.125,0.208;MQ=58.02;MQRankSum=0.102;QD=0.77;ReadPosRankSum=-1.159e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:317,59,0:376:99:0|1:195778917_G_C:988,0,12141,1932,12318,14250:195778917	7	0	2	9
chr3	195779166	195779166	G	0	exonic	MUC4	.	.	.	.	.	685	574	152	54	57	317	0.184659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	4306.89	387	chr3	195779166	.	G	T,*	4306.89	.	AC=2,1;AF=0.167,0.083;AN=12;BaseQRankSum=-9.300e-02;DP=7279;ExcessHet=0.0000;FS=2.157;InbreedingCoeff=0.2023;MLEAC=4,2;MLEAF=0.333,0.167;MQ=56.28;MQRankSum=-1.198e+01;QD=11.07;ReadPosRankSum=4.03;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:165,93,0:258:99:0|1:195779166_G_T:2952,0,5978,3447,6258,9706:195779166	4	0	1	15
chr3	195779220	195779220	A	0	exonic	MUC4	.	.	.	.	.	729	613	71	27	82	207	0.0925241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	4281.86	308	chr3	195779220	.	A	C,*	4281.86	.	AC=3,1;AF=0.214,0.071;AN=14;BaseQRankSum=0.534;DP=5938;ExcessHet=0.0193;FS=0.533;InbreedingCoeff=0.1614;MLEAC=6,2;MLEAF=0.429,0.143;MQ=57.49;MQRankSum=-7.676e+00;QD=5.92;ReadPosRankSum=-3.394e+00;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:206,66,0:272:99:0|1:195779166_G_T:2093,0,8389,2713,8588,11301:195779166	4	0	2	14
chr3	195779228	195779228	T	0	exonic	MUC4	.	.	.	.	.	740	633	67	26	56	175	0.0859206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	2707.89	298	chr3	195779228	.	T	C,*	2707.89	.	AC=2,1;AF=0.167,0.083;AN=12;BaseQRankSum=2.43;DP=5664;ExcessHet=0.0000;FS=1.088;InbreedingCoeff=0.2023;MLEAC=4,2;MLEAF=0.333,0.167;MQ=57.42;MQRankSum=-1.212e+01;QD=6.70;ReadPosRankSum=-5.159e+00;SOR=0.776	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,52,0:256:99:0|1:195779166_G_T:1569,0,8361,2183,8518,10701:195779166	4	0	1	15
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	75722.94	215	chr3	195779882	.	G	C,*	75722.94	.	AC=18,8;AF=0.692,0.308;AN=26;BaseQRankSum=0.967;DP=4540;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.5960;MLEAC=26,12;MLEAF=1.00,0.462;MQ=59.69;MQRankSum=-2.320e-01;QD=23.33;ReadPosRankSum=-5.600e-02;SOR=0.742	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,228,0:228:99:.:.:7574,683,0,7574,683,7574	0	7	0	8
chr3	195780043	195780043	G	0	exonic	MUC4	.	.	.	.	.	6	91	2	1	126	130	0.0215054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780043	.	G	A,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6744;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=57.07;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:401,0,201:602:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:3150,4357,20982,0,16624,16220:195780016	5	0	1	7
chr3	195780046	195780046	A	0	exonic	MUC4	.	.	.	.	.	13	85	2	1	125	129	0.0229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3929	3773.39	467	chr3	195780046	.	A	C,*	3773.39	.	AC=1,10;AF=0.036,0.357;AN=28;DP=6719;ExcessHet=0.5777;FS=0.000;InbreedingCoeff=-0.0638;MLEAC=1,13;MLEAF=0.036,0.464;MQ=56.80;QD=1.27;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:401,0,201:602:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:3150,4357,20982,0,16624,16220:195780016	5	0	1	7
chr3	195780069	195780069	G	0	exonic	MUC4	.	.	.	.	.	10	98	2	0	116	118	0.010101	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3462	2997.68	313	chr3	195780069	.	G	C,*	2997.68	.	AC=1,8;AF=0.038,0.308;AN=26;DP=6315;ExcessHet=0.1204;FS=0.000;InbreedingCoeff=0.0503;MLEAC=1,11;MLEAF=0.038,0.423;MQ=56.31;QD=1.57;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:401,0,201:602:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:3150,4357,20982,0,16624,16220:195780016	6	0	1	8
chr3	195780075	195780075	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1468.72	313	chr3	195780075	.	T	G,*	1468.72	.	AC=1,8;AF=0.029,0.235;AN=34;DP=6273;ExcessHet=0.1022;FS=0.000;InbreedingCoeff=0.1606;MLEAC=1,9;MLEAF=0.029,0.265;MQ=56.27;QD=0.77;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:401,0,201:602:99:0|1:195780016_ATGGTGTCACCTGTGGATACTGAGGAAGGGATGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGG_A:3150,4357,20982,0,16624,16220:195780016	10	0	1	4
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	0/1:156,403,0:559:99:.:.:7501,0,5535,4799,6533,11864	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	0/2:152,0,403:555:99:.:.:7501,4764,11586,0,6420,5449	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	0/1:177,402,0:579:99:.:.:7149,0,6537,4430,7321,11399	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	0/2:137,0,392:529:99:.:.:7366,4522,10255,0,5758,4915	5	1	3	6
chr3	195780604	195780604	G	0	exonic	MUC4	.	.	.	.	.	455	714	336	0	17	353	0.190476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	49349.11	404	chr3	195780604	.	G	C,*	49349.11	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=1.02;DP=8148;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.5385;MLEAC=13,1;MLEAF=0.361,0.028;MQ=49.37;MQRankSum=2.50;QD=8.15;ReadPosRankSum=-1.380e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:248,109,0:357:99:.:.:2404,0,9147,3150,9471,12621	5	0	12	3
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	0/1:161,219,0:380:99:.:.:8700,0,5915,9184,6574,15758	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	0/1:161,217,0:378:99:.:.:8600,0,5840,9084,6500,15584	3	0	14	3
chr3	195781134	195781134	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	33200.29	498	chr3	195781134	.	A	G,*	33200.29	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=6.18;DP=8525;ExcessHet=15.6281;FS=5.345;InbreedingCoeff=-0.5385;MLEAC=14,1;MLEAF=0.350,0.025;MQ=57.71;MQRankSum=-1.307e+01;QD=5.24;ReadPosRankSum=-7.680e-01;SOR=1.207	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:193,86,0:279:99:0|1:195781128_A_T:2986,0,7841,3567,8100,11667:195781128	6	0	13	1
chr3	195781149	195781154	GCTGGT	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.10426_10431del:p.T3476_S3477del	.	.	429	865	216	1	11	229	0.11191	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0145	0	0	0.0029	0	0	0	0.0351	3.84e-05	1	26028	.	0.0025	0.0021	0.0015	0.0035	0.0389	0.0024	0.0023	0.0375	0.0369	0.0001	4.844e-05	0	7.76e-05	5.404e-05	0.0012	0.0002	0.0034	0.0389	0.0031	0.0027	0.0012	0.0050	0.0817	0.0026	0.0025	0.0699	0.0654	0.0003	0	0	0	0	0	0	0.0002	0.0017	0.0817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:185,0,69:254:99:0|1:195781128_A_T:2342,2897,10605,0,7707,7500:195781128	6	0	1	2
chr3	195781148	195781154	GGCTGGT	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	3997.56	481	chr3	195781148	.	GGCTGGT	G,*	3997.56	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=5.06;DP=8191;ExcessHet=12.7758;FS=8.141;InbreedingCoeff=-0.5094;MLEAC=1,13;MLEAF=0.026,0.342;MQ=56.16;MQRankSum=-1.509e+01;QD=0.72;ReadPosRankSum=-2.317e+00;SOR=1.412	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:185,0,69:254:99:0|1:195781128_A_T:2342,2897,10605,0,7707,7500:195781128	6	0	1	2
chr3	195781150	195781150	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	17655.6	472	chr3	195781150	.	C	CAT,*	17655.6	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=6.87;DP=8110;ExcessHet=11.8493;FS=8.427;InbreedingCoeff=-0.4911;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.14;MQRankSum=-1.618e+01;QD=3.26;ReadPosRankSum=-2.268e+00;SOR=1.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:183,67,0:250:99:0|1:195781128_A_T:2264,0,7422,2813,7623,10437:195781128	7	0	12	1
chr3	195781237	195781237	G	0	exonic	MUC4	.	.	.	.	.	457	758	281	0	26	307	0.156372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	57049.74	510	chr3	195781237	.	G	GAGGAAGGGCTGGTGACAGGAAGAGGGGTGGTGTGACCTGTGGATGCTA,*	57049.74	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=-8.550e-01;DP=9994;ExcessHet=6.1794;FS=2.732;InbreedingCoeff=-0.3292;MLEAC=13,1;MLEAF=0.325,0.025;MQ=57.80;MQRankSum=-1.148e+01;QD=9.95;ReadPosRankSum=-6.049e+00;SOR=0.922	GT:AD:DP:GQ:PL	0/1:181,152,0:333:99:5530,0,6692,6078,7149,13227	7	0	12	1
chr3	195781570	195781666	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	441	758	314	1	8	324	0.172489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	16107.51	556	chr3	195781570	.	GCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	G,*	16107.51	.	AC=11,2;AF=0.306,0.056;AN=36;BaseQRankSum=2.83;DP=10262;ExcessHet=5.0857;FS=9.641;InbreedingCoeff=-0.3187;MLEAC=12,2;MLEAF=0.333,0.056;MQ=55.78;MQRankSum=-1.803e+00;QD=2.85;ReadPosRankSum=-4.685e+00;SOR=1.416	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:387,49,0:436:99:.:.:918,0,15836,2080,16004,18084	6	0	10	3
chr3	195781578	195781579	AG	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	3970.88	556	chr3	195781578	.	AG	A,*	3970.88	.	AC=1,10;AF=0.031,0.313;AN=32;BaseQRankSum=3.87;DP=10171;ExcessHet=8.9063;FS=8.836;InbreedingCoeff=-0.4349;MLEAC=1,12;MLEAF=0.031,0.375;MQ=55.69;MQRankSum=-5.260e-01;QD=0.73;ReadPosRankSum=-6.913e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:387,0,49:436:99:.:.:918,2080,18084,0,16004,15836	5	0	1	5
chr3	195781580	195781580	G	0	exonic	MUC4	.	.	.	.	.	463	722	319	1	17	338	0.18187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:387,49,0:436:99:.:.:918,0,15836,2080,16004,18084	6	1	10	3
chr3	195781580	195781580	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C10000G:p.P3334A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	B	0.02	B	.	.	1.000	N	0	N	1.6	T	-1.029	T	0.025	T	0.055	-2.642	0	-0.846	-1.978	-4.124	.	0.002	0.00306801804481	.	.	.	.	.	.	.	.	.	.	.	.	.	rs201933946	2.584e-05	3.087e-05	2.108e-05	3.081e-05	0.0009	1.477e-05	1.088e-05	0.0002	0.0001	0	0	0	0.0009	0	0	1.631e-05	5.502e-05	7.572e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.39	0.10838	T	0.225	0.25670	T	.	.	.	.	.	.	.	.	.	.	1	0.20745	N	.	.	.	1.6	0.29085	T	-0.92	0.25332	N	0.04	0.03613	-1.0294	0.20649	T	0.025	0.10866	T	7	0.049262732	0.04492	T	0.003068	0.06636	T	0.002	0.00045	0.155	0.05858	0.0138822411134	0.00435	7.891078168164878E-4	0.00072	.	.	0.422586500645	0.28193	T	.	.	.	-0.383899	0.02944	T	-0.789221	0.02186	T	0.0408006180140352	0.03836	T	0.581242	0.21054	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.01215	B	.;.	.;.	0.478526	0.08482	5.240	0.48788944872141277	0.04100	0.00070	0.00494	N	AEFBI	0.046739	0.07794	N	-1.9141490975778	0.00321	0.01379166	-2.02320338169732	0.00274	0.01206826	9.80237534810795E-4	0.08079	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.423	-0.846	0.10190	-0.579000	0.05927	-4.712000	0.02021	-2.820000	0.00180	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	.	.	.	601	0.67921	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	4520.74	556	chr3	195781580	.	G	*,C	4520.74	.	AC=12,1;AF=0.333,0.028;AN=36;BaseQRankSum=0.179;DP=9815;ExcessHet=5.0857;FS=8.513;InbreedingCoeff=-0.3187;MLEAC=13,1;MLEAF=0.361,0.028;MQ=56.01;MQRankSum=-2.278e+00;QD=0.86;ReadPosRankSum=-1.693e+00;SOR=1.267	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:387,49,0:436:99:.:.:918,0,15836,2080,16004,18084	6	1	10	3
chr3	195781581	195781581	G	0	exonic	MUC4	.	.	.	.	.	457	734	318	1	12	332	0.178971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3967.27	556	chr3	195781581	.	G	T,*	3967.27	.	AC=1,9;AF=0.033,0.300;AN=30;BaseQRankSum=4.80;DP=9779;ExcessHet=6.9875;FS=11.398;InbreedingCoeff=-0.4055;MLEAC=1,11;MLEAF=0.033,0.367;MQ=55.48;MQRankSum=-3.960e-01;QD=0.82;ReadPosRankSum=-7.208e+00;SOR=1.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:387,0,49:436:99:.:.:918,2080,18084,0,16004,15836	5	0	1	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	13584.69	556	chr3	195781583	.	T	*,TGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGTGTC,TC	13584.69	.	AC=8,2,1;AF=0.267,0.067,0.033;AN=30;BaseQRankSum=5.10;DP=9593;ExcessHet=2.8258;FS=8.879;InbreedingCoeff=-0.2455;MLEAC=10,2,1;MLEAF=0.333,0.067,0.033;MQ=56.45;MQRankSum=-1.210e-01;QD=3.10;ReadPosRankSum=-1.456e+00;SOR=1.309	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:14,49,53,0:116:99:.:.:2643,1275,10400,803,0,1404,3333,6602,2117,8075	5	0	7	6
chr3	195781618	195781666	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	0	exonic	MUC4	.	.	.	.	.	469	535	446	20	52	538	0.312339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	64803.77	402	chr3	195781618	.	GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	*,G	64803.77	.	AC=5,12;AF=0.147,0.353;AN=34;BaseQRankSum=0.785;DP=8138;ExcessHet=1.0760;FS=0.000;InbreedingCoeff=-0.0359;MLEAC=6,14;MLEAF=0.176,0.412;MQ=54.52;MQRankSum=-7.229e+00;QD=12.85;ReadPosRankSum=0.031;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:282,49,30:361:99:.:.:1228,0,12472,1052,10346,12194	4	0	1	4
chr3	195781620	195781620	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4412	317.18	402	chr3	195781620	.	T	*,C	317.18	.	AC=15,3;AF=0.441,0.088;AN=34;BaseQRankSum=0.368;DP=7754;ExcessHet=0.4630;FS=2.515;InbreedingCoeff=0.0667;MLEAC=17,3;MLEAF=0.500,0.088;MQ=54.29;MQRankSum=-9.995e+00;QD=0.07;ReadPosRankSum=-1.613e+00;SOR=0.884	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:282,30,0:361:99:.:.:176,0,11142,1063,11353,13285	4	2	8	4
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	0|2:126,4,83:213:99:0|1:195781628_C_*:2523,2593,7539,0,4881,9857:195781628	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|2:137,4,83:224:99:0|1:195781628_C_*:2520,2624,8003,0,5322,10069:195781628	3	0	1	12
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|2:144,4,83:231:99:0|1:195781628_C_*:2526,2654,8212,0,5520,10020:195781628	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	0/1:157,83,1:241:99:.:.:2409,0,8812,2907,6132,9756	4	1	4	11
chr3	195781789	195781789	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9791G:p.S3264C	.	.	.	.	.	.	.	.	.	.	.	2825223	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.994	D	0.962	D	.	.	1.000	N	0.345	N	1.35	T	-1.046	T	0.089	T	0.101	0.205	5.105	1.03	0.494	0.294	5.394	0.028	.	.	.	0.0028	0.0335	0.0047	0	0	0.0003	0	0.0002	.	.	.	rs1260213383	0.0004	0.0009	0.0004	0.0003	0.0075	0.0003	0.0003	0.0066	0.0062	0.0075	0.0006	0.0003	9.515e-05	0	0.0026	0.0001	0.0009	1.93e-05	0.0011	0.0056	0.0013	0.0010	0.0037	0.0010	0.0009	0.0031	0.0028	0.0037	0	0.0008	0.0006	0	0	0	0.0001	0.0018	0	0.036	0.43393	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.20152	N	.	.	.	1.35	0.35960	T	-0.52	0.20358	N	0.058	0.03392	-1.0464	0.15418	T	0.089	0.34325	T	8	0.0056270957	0.00125	T	.	.	.	0.028	0.06331	0.229	0.15556	0.0297737177859	0.01360	0.001013548136499485	0.00093	.	.	0.469768941402	0.34648	T	.	.	.	-0.293953	0.09243	T	-0.660019	0.08265	T	0.0111137903727331	0.00162	T	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.227	0.45918	B	.;.	.;.	1.908544	0.24238	16.32	0.59381222538087186	0.06211	0.00993	0.03770	N	AEFBI	0.089943	0.18228	N	-0.609396956545462	0.18661	0.9706224	-0.852740611599318	0.13221	0.6847116	1.65442328437548E-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	1.03	0.19161	-0.438000	0.06975	0.729000	0.21072	0.093000	0.17603	0.000000	0.06391	0.001000	0.17328	0.005000	0.06747	0.0:0.0:1.0:0.0	5.394	0.15560	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	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:145,0,93:238:99:.:.:1923,2362,8324,0,5962,5748	6	0	1	1
chr3	195781789	195781789	G	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	154.67	235	chr3	195781789	.	G	C,*	154.67	.	AC=1,13;AF=0.025,0.325;AN=40;BaseQRankSum=-1.930e+00;DP=3748;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5385;MLEAC=1,14;MLEAF=0.025,0.350;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-3.910e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:145,0,93:238:99:.:.:1923,2362,8324,0,5962,5748	6	0	1	1
chr3	195781790	195781790	A	0	exonic	MUC4	.	.	.	.	.	585	525	41	5	366	417	0.0463215	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	155.03	235	chr3	195781790	.	A	G,*	155.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=-5.110e-01;DP=3742;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=46.98;MQRankSum=-3.240e+00;QD=0.05;ReadPosRankSum=-5.390e-01;SOR=0.534	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:145,0,93:238:99:.:.:1923,2362,8324,0,5962,5748	5	0	1	2
chr3	195781809	195781809	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	98.03	235	chr3	195781809	.	T	A,*	98.03	.	AC=1,13;AF=0.026,0.342;AN=38;BaseQRankSum=1.65;DP=3716;ExcessHet=15.6281;FS=2.437;InbreedingCoeff=-0.5686;MLEAC=1,14;MLEAF=0.026,0.368;MQ=39.50;MQRankSum=-7.910e-01;QD=0.03;ReadPosRankSum=-1.770e+00;SOR=0.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:145,0,93:238:99:.:.:1923,2362,8324,0,5962,5748	5	0	1	2
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	0/2:145,0,93:238:99:.:.:1923,2362,8324,0,5962,5748	6	0	1	1
chr3	195782885	195782885	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C8695G:p.L2899V	.	.	441	1001	71	3	6	83	0.037037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	B	0.002	B	.	.	0.827	N	0	N	1.48	T	-0.997	T	0.029	T	0.052	0.090	4.487	.	-0.000	-3.385	3.442	0.025	0.00300548804343	.	.	9.549e-05	0	0	0	0	0	0	0.0003	0.0016521	43	26028	rs28750097	0.0009	0.0041	0.0010	0.0008	0.0040	0.0009	0.0008	0.0032	0.0029	0.0040	0.0002	0.0003	0.0004	0.0006	0.0031	0.0009	0.0012	0.0002	0.0020	0.0064	0.0023	0.0017	0.0052	0.0017	0.0016	0.0042	0.0038	0.0052	0.0023	0.0012	0.0005	0.0016	0.0014	0	0.0014	0	0.0020	1.0	0.00964	T	0.239	0.24549	T	.	.	.	.	.	.	.	.	.	.	1	0.28805	N	.	.	.	1.48	0.31731	T	0.12	0.06026	N	0.041	0.01421	-0.9966	0.30865	T	0.029	0.12453	T	7	0.018572211	0.00405	T	0.003005	0.06427	T	0.025	0.05312	.	.	0.0138822411134	0.00435	3.044775719837448E-5	0.00003	.	.	0.465785056353	0.34102	T	.	.	.	-0.391543	0.02629	T	-0.800201	0.01897	T	0.0372411984655896	0.03198	T	0.614539	0.23442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00949	B	.;.	.;.	-0.394630	0.02232	0.226	0.80108681051515207	0.13048	0.00125	0.00780	N	AEFBI	0.068702	0.13564	N	-1.42677761699849	0.02406	0.1061872	-1.52815469191101	0.02130	0.09750297	1.15675074745198E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	.	.	.	-1.437000	0.02525	-2.218000	0.04042	-1.118000	0.01477	0.000000	0.06391	0.008000	0.19753	0.005000	0.06747	0.6613:0.0:0.3387:0.0	3.442	0.07038	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	0.09091	8904.68	577	chr3	195782885	.	G	GAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGAC,C	8904.68	.	AC=1,1;AF=0.045,0.045;AN=22;BaseQRankSum=-1.141e+00;DP=13631;ExcessHet=0.1128;FS=0.000;InbreedingCoeff=-0.1940;MLEAC=2,2;MLEAF=0.091,0.091;MQ=57.07;MQRankSum=-1.545e+01;QD=7.58;ReadPosRankSum=-4.713e+00;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:378,262,0:640:99:0|1:195782885_G_GAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGAC:8542,0,14567,9706,15352,25058:195782885	9	0	1	10
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	0|1:180,369,0:549:99:0|1:195782885_G_GAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGAC:11019,0,3737,11556,4843,16399:195782885	0	2	6	12
chr3	195783008	195783008	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8929.47	518	chr3	195783008	.	A	G,*	8929.47	.	AC=3,5;AF=0.107,0.179;AN=28;BaseQRankSum=-9.100e-01;DP=10671;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=4,6;MLEAF=0.143,0.214;MQ=56.37;MQRankSum=-4.251e+00;QD=2.12;ReadPosRankSum=0.842;SOR=0.660	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:492,105,0:597:99:0|1:195782885_G_GAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGAC:2840,0,20161,4319,20477,24796:195782885	6	0	3	7
chr3	195783009	195783009	C	0	exonic	MUC4	.	.	.	.	.	474	974	47	0	27	74	0.0235589	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8931.46	521	chr3	195783009	.	C	*,T	8931.46	.	AC=5,3;AF=0.179,0.107;AN=28;BaseQRankSum=-4.990e-01;DP=10668;ExcessHet=3.7745;FS=0.000;InbreedingCoeff=-0.3793;MLEAC=7,4;MLEAF=0.250,0.143;MQ=56.37;MQRankSum=-4.434e+00;QD=2.12;ReadPosRankSum=1.05;SOR=0.659	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:492,0,105:597:99:0|1:195782885_G_GAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGAC:2840,4319,24796,0,20477,20161:195782885	6	0	5	7
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|1:207,199,0:406:99:0|1:195783084_A_C:7304,0,7782,7926,8380,16306:195783084	6	2	8	2
chr3	195783093	195783093	A	0	exonic	MUC4	.	.	.	.	.	83	60	55	21	7	104	0.447005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	99636.6	482	chr3	195783093	.	A	G,*	99636.6	.	AC=15,2;AF=0.469,0.063;AN=32;BaseQRankSum=-2.015e+00;DP=8944;ExcessHet=1.9072;FS=0.000;InbreedingCoeff=-0.0323;MLEAC=18,2;MLEAF=0.563,0.063;MQ=58.06;MQRankSum=-9.630e-01;QD=17.76;ReadPosRankSum=0.012;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,202,0:402:99:0|1:195783084_A_C:7418,0,7498,8019,8105,16125:195783084	3	2	9	5
chr3	195783861	195783861	G	0	exonic	MUC4	.	.	.	.	.	560	460	486	7	9	509	0.352113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	81944.7	385	chr3	195783861	.	G	A,*	81944.7	.	AC=12,1;AF=0.400,0.033;AN=30;BaseQRankSum=1.06;DP=8683;ExcessHet=15.1749;FS=1.128;InbreedingCoeff=-0.5646;MLEAC=15,1;MLEAF=0.500,0.033;MQ=54.05;MQRankSum=-8.970e-01;QD=13.98;ReadPosRankSum=0.513;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:309,117,0:426:99:0|1:195783836_T_G:3877,0,12553,4807,12929,17735:195783836	2	0	12	6
chr3	195783874	195783874	G	0	exonic	MUC4	.	.	.	.	.	665	374	471	9	3	492	0.395311	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	83273.27	394	chr3	195783874	.	G	A,*	83273.27	.	AC=12,1;AF=0.353,0.029;AN=34;BaseQRankSum=-2.313e+00;DP=8997;ExcessHet=13.8672;FS=1.132;InbreedingCoeff=-0.5289;MLEAC=14,1;MLEAF=0.412,0.029;MQ=54.92;MQRankSum=-5.830e-01;QD=13.63;ReadPosRankSum=3.00;SOR=0.792	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:327,110,0:437:99:0|1:195783836_T_G:3579,0,13341,4563,13705,18268:195783836	4	0	12	4
chr3	195783878	195783878	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	158236.0	363	chr3	195783878	.	C	A,CGGAAGTGTCGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA,*,CGGAAGTGTTGGTGACATGAAGAGGGGTGGCATGACCTGTGGATACTGA	158236.0	.	AC=12,7,1,1;AF=0.333,0.194,0.028,0.028;AN=36;BaseQRankSum=1.84;DP=9624;ExcessHet=8.7202;FS=1.793;InbreedingCoeff=-0.4053;MLEAC=13,7,1,1;MLEAF=0.361,0.194,0.028,0.028;MQ=55.02;MQRankSum=-2.778e+00;QD=22.89;ReadPosRankSum=-4.840e-01;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:170,107,70,0,0:348:99:.:.:6862,0,6861,2097,2475,8782,4421,7140,9277,13803,4421,7140,9277,13803,13803	1	1	9	3
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|1:327,190,0:517:99:0|1:195783891_G_A:6723,0,13020,7707,13592,21299:195783891	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	0/1:306,195,0:501:99:.:.:7186,0,9097,8099,9684,17783	2	0	15	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	0|1:221,169,0:390:99:0|1:195784652_C_G:6345,0,8713,7010,9222,16232:195784652	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	0|1:224,171,0:395:99:0|1:195784652_C_G:6420,0,8822,7094,9337,16431:195784652	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	0|2:223,0,171:394:99:0|1:195784652_C_G:6423,7094,16410,0,9316,8801:195784652	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	0|1:230,294,0:524:99:0|1:195784652_C_G:9179,0,7473,9870,8354,18224:195784652	0	4	8	6
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	1/1:0,806,0:806:99:.:.:28893,2460,0,29889,2518,33144	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	1/1:4,817,0:821:99:.:.:28676,2394,0,29728,2553,33328	0	15	5	0
chr3	195787238	195787238	C	0	exonic	MUC4	.	.	.	.	.	932	298	197	67	28	359	0.357066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	3246.35	24	chr3	195787238	.	C	A,*	3246.35	.	AC=16,3;AF=0.421,0.079;AN=38;BaseQRankSum=1.49;DP=300;ExcessHet=2.6629;FS=47.055;InbreedingCoeff=-0.1962;MLEAC=18,3;MLEAF=0.474,0.079;MQ=37.84;MQRankSum=1.47;QD=13.47;ReadPosRankSum=-3.110e-01;SOR=1.282	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,7,0:27:99:0|1:195787233_T_A:231,0,814,292,836,1127:195787233	4	2	10	2
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	2873.59	19	chr3	195787273	.	T	*,C	2873.59	.	AC=4,15;AF=0.100,0.375;AN=40;BaseQRankSum=-3.190e-01;DP=324;ExcessHet=0.7352;FS=61.659;InbreedingCoeff=-0.0399;MLEAC=5,17;MLEAF=0.125,0.425;MQ=37.78;MQRankSum=1.27;QD=11.54;ReadPosRankSum=-6.730e-01;SOR=0.049	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:21,0,8:29:99:0|1:195787233_T_A:260,323,1170,0,846,822:195787233	6	0	1	1
chr3	195787858	195787905	GCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	-	exonic	MUC4	.	nonframeshift deletion	MUC4:NM_018406:exon2:c.3675_3722del:p.D1228_T1243del	.	.	845	542	82	39	14	174	0.128617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0016	8.86e-05	0.0001	0.0002	8.685e-05	7.777e-05	7.503e-05	6.47e-05	0.0002	0.0001	0.0002	0.0001	0.0002	0	0.0001	0.0002	2.234e-05	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	3048.65	24	chr3	195787857	.	TGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	T,AGCTGCGGAAGGGATGGTTACAGGAAGAGAGGTGGCGTGATCTGTGGAC	3048.65	.	AC=2,12;AF=0.059,0.353;AN=34;BaseQRankSum=1.44;DP=324;ExcessHet=0.6984;FS=37.858;InbreedingCoeff=0.0268;MLEAC=2,14;MLEAF=0.059,0.412;MQ=36.04;MQRankSum=0.122;QD=17.13;ReadPosRankSum=0.506;SOR=4.512	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:15,0,4:19:99:0|1:195787857_T_A:123,168,772,0,604,592:195787857	6	0	1	4
chr3	195787862	195787862	C	0	exonic	MUC4	.	.	.	.	.	915	430	100	76	1	253	0.226619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4667	2681.94	24	chr3	195787862	.	C	A,*	2681.94	.	AC=13,2;AF=0.433,0.067;AN=30;BaseQRankSum=-2.400e-01;DP=304;ExcessHet=0.3122;FS=39.025;InbreedingCoeff=0.0321;MLEAC=16,3;MLEAF=0.533,0.100;MQ=35.60;MQRankSum=-7.000e-02;QD=16.16;ReadPosRankSum=0.623;SOR=4.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,5,0:20:99:0|1:195787857_T_A:161,0,583,206,598,803:195787857	4	3	6	6
chr3	195787897	195787897	T	0	exonic	MUC4	.	.	.	.	.	830	484	108	98	2	306	0.238994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4090.56	24	chr3	195787897	.	T	*,C	4090.56	.	AC=2,16;AF=0.059,0.471;AN=34;BaseQRankSum=-3.270e-01;DP=455;ExcessHet=0.3330;FS=31.908;InbreedingCoeff=0.0493;MLEAC=2,18;MLEAF=0.059,0.529;MQ=36.91;MQRankSum=-3.460e-01;QD=16.17;ReadPosRankSum=0.153;SOR=4.157	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:14,0,6:20:99:0|1:195787857_T_A:196,238,800,0,562,544:195787857	4	0	1	4
chr3	195788132	195788132	T	0	exonic	MUC4	.	.	.	.	.	595	698	124	3	102	232	0.08519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	6578.57	769	chr3	195788132	.	T	C,*	6578.57	.	AC=7,3;AF=0.219,0.094;AN=32;BaseQRankSum=4.36;DP=5689;ExcessHet=7.5380;FS=5.019;InbreedingCoeff=-0.3295;MLEAC=9,4;MLEAF=0.281,0.125;MQ=54.21;MQRankSum=-8.605e+00;QD=1.86;ReadPosRankSum=1.06;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:203,31,0:234:99:0|1:195788077_G_A:656,0,8431,1267,8524,9791:195788077	6	0	7	5
chr3	195788146	195788146	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3077	5085.53	769	chr3	195788146	.	A	G,*	5085.53	.	AC=6,2;AF=0.231,0.077;AN=26;BaseQRankSum=5.31;DP=5652;ExcessHet=4.3158;FS=6.139;InbreedingCoeff=-0.2994;MLEAC=8,3;MLEAF=0.308,0.115;MQ=54.57;MQRankSum=-9.562e+00;QD=1.82;ReadPosRankSum=-6.330e-01;SOR=1.197	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:247,31,0:278:99:0|1:195788077_G_A:523,0,10279,1267,10371,11638:195788077	5	0	6	8
chr3	195788160	195788160	G	0	exonic	MUC4	.	.	.	.	.	491	837	111	0	83	194	0.0621849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3337.77	769	chr3	195788160	.	G	A,*	3337.77	.	AC=6,2;AF=0.188,0.063;AN=32;BaseQRankSum=4.67;DP=6056;ExcessHet=4.3158;FS=5.294;InbreedingCoeff=-0.2121;MLEAC=7,2;MLEAF=0.219,0.063;MQ=55.72;MQRankSum=-1.019e+01;QD=1.10;ReadPosRankSum=-3.087e+00;SOR=1.145	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:291,27,0:318:99:0|1:195788077_G_A:258,0,12127,1134,12208,13342:195788077	8	0	6	5
chr3	195868011	195868011	G	A	exonic	TNK2	.	nonsynonymous SNV	TNK2:NM_001308046:exon12:c.C2338T:p.R780W	.	.	401	1120	1	0	0	1	0.000446229	.	.	2020807	TNK2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.999	D	0.000	D	1.000	D	1.955	M	-0.44	T	-0.216	T	0.416	T	0.58	2.823	15.40	4.1	1.035	3.788	10.986	0.365	0.66346687593	0.0002	0.000399361	0.0008	0	0	0.0005	0	0.0013	0	0.0004	0.0003428	53	154602	rs202015088	0.0004	0.0004	0.0004	0.0004	0.0018	0.0004	0.0004	0.0014	0.0013	6.085e-05	0.0003	0.0086	0.0018	2.478e-05	0.0009	0.0002	0.0009	0.0003	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0002	0.0002	0.0002	0	0.0005	0.0101	0.0006	0	0	0.0003	0.0009	0.0004	0.0	0.91255	D	0.003	0.76473	D	1.0	0.90584	D	0.999	0.92359	D	0.000005	0.62929	D	0.061434	0.999734	0.48635	D	2.05	0.56469	M	-0.44	0.69777	T	-5.43	0.85323	D	0.565	0.58883	-0.2165	0.77245	T	0.416	0.76299	T	10	0.013443083	0.00285	T	0.663467	0.97178	D	0.365	0.68495	.	.	0.92906767235	0.92833	0.38608878466847596	0.38523	0.0325248027016	0.03398	0.836178481579	0.87511	D	0.268049	0.84189	T	-0.149685	0.28361	T	-0.14041	0.60082	T	0.284063249826431	0.24342	T	0.974103	0.90741	D	0.36661342	0.58334	0.29224676	0.55251	0.36661342	0.58334	0.29224676	0.55250	-10.297	0.75671	D	.	.	0.397	0.59415	A	.;.;.;.	.;.;.;.	4.000828	0.58953	24.0	0.99898999595798899	0.97124	0.97124	0.72830	D	AEFDBI	0.792571	0.72083	D	0.436182356871003	0.63423	4.575795	0.361901410264534	0.59228	4.098875	0.997822298415989	0.36074	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	5.01	4.1	0.47196	2.778000	0.47412	2.393000	0.32551	0.669000	0.69127	1.000000	0.71638	0.997000	0.33255	0.275000	0.23893	0.0:0.0:0.6045:0.3955	10.986	0.46737	884	0.28482	.;.;.;.	.	.	.	.	.	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	759.98	59	chr3	195868011	.	G	A	759.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=976;ExcessHet=0.0000;FS=8.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-4.290e-01;SOR=1.402	GT:AD:DP:GQ:PL	0/1:41,29:70:99:774,0,1074	20	0	1	0
chr4	295462	295462	G	A	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon3:c.C202T:p.H68Y,	.	.	480	1013	25	4	0	33	0.0160272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.867	P	0.337	B	.	.	1.000	N	1.23	L	3.41	T	-0.966	T	0.015	T	0.171	0.345	5.872	0.225	0.300	0.364	.	0.037	.	0.0015	0.00239617	0.0050	0.0007	0.0024	0.0002	0.0009	0.0031	0.0063	0.0196	0.0030983	479	154602	rs138314261	0.0027	0.0027	0.0023	0.0031	0.0147	0.0026	0.0026	0.0140	0.0137	0.0004	0.0021	0.0018	2.525e-05	0.0004	0.0109	0.0020	0.0032	0.0147	0.0019	0.0019	0.0018	0.0020	0.0137	0.0017	0.0016	0.0110	0.0101	0.0004	0	0.0020	0.0012	0.0002	0.0003	0.0068	0.0023	0.0024	0.0137	0.019	0.50132	D	0.259	0.23097	T	0.867	0.47667	P	0.337	0.42281	B	.	.	.	.	1	0.08975	N	1.595	0.40691	L	3.41	0.05574	T	-4.3	0.76496	D	0.283	0.32037	-0.9661	0.37994	T	0.015	0.05946	T	8	0.004892677	0.00104	T	.	.	.	0.037	0.09474	.	.	0.0297737177859	0.01360	0.008887082006758107	0.00851	0.00617594443748	0.00540	0.462571084499	0.33664	T	0.028374	0.20569	T	-0.583913	0.00182	T	-0.598554	0.12934	T	0.0382727865918116	0.03381	T	0.00488285	0.00016	T	0.18124768	0.39286	0.25665975	0.51369	0.18124768	0.39286	0.25665975	0.51368	-7.339	0.56473	T	.	.	0.083	0.11701	B	.;.	.;.	0.778245	0.11484	8.086	0.83627085447851301	0.14830	0.00662	0.02865	N	AEFBI	0.037922	0.05288	N	-0.641975677530967	0.17694	0.9126882	-0.849602537774039	0.13297	0.6890182	0.0801743627968419	0.15838	0.706548	0.73137	0	0.547309	0.14657	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	0.225	0.225	0.14598	0.919000	0.28312	.	.	0.373000	0.20310	0.005000	0.17040	0.000000	0.08366	0.031000	0.13245	.	.	.	958	0.09170	Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1084.98	37	chr4	295462	.	G	A	1084.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=812;ExcessHet=0.0000;FS=1.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.74;ReadPosRankSum=-8.100e-01;SOR=0.534	GT:AD:DP:GQ:PL	0/1:54,47:101:99:1099,0,1350	20	0	1	0
chr4	444400	444400	G	A	exonic	ZNF721	.	nonsynonymous SNV	ZNF721:NM_133474:exon3:c.C67T:p.P23S,	.	.	470	1043	8	1	0	10	0.00477099	.	.	2344554	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.983	D	0.718	P	.	.	1.000	N	2.07	M	6.13	T	-1.054	T	0.031	T	0.103	1.503	10.97	1.16	0.585	1.675	5.560	0.060	0.00326301347572	0.0009	0.000798722	0.0007	0.0001	8.703e-05	0	0	0.0011	0	0.0007	0.0006662	103	154602	rs147101943	0.0006	0.0006	0.0006	0.0006	0.0066	0.0006	0.0005	0.0049	0.0043	0.0002	0.0003	0.0016	2.536e-05	7.547e-05	0.0066	0.0006	0.0009	0.0007	0.0005	0.0005	0.0006	0.0005	0.0008	0.0004	0.0004	0.0007	0.0006	7.234e-05	0	0.0003	0.0014	0	0	0.0034	0.0008	0.0019	0.0006	0.061	0.91255	T	0.105	0.44905	T	0.983	0.60381	D	0.718	0.54779	P	.	.	.	.	1	0.08975	N	2.1	0.58353	M	5.43	0.06291	T	-6.36	0.91017	D	0.1	0.27316	-1.0535	0.13440	T	0.031	0.13418	T	9	0.02060613	0.00478	T	0.003263	0.07207	T	0.060	0.17295	.	.	0.101711395817	0.09552	0.07780660636734625	0.07716	0.01598515972	0.01529	0.382494032383	0.22611	T	0.004171	0.03581	T	-0.575627	0.00205	T	-0.66438	0.07973	T	0.0777166149479617	0.09692	T	0.139386	0.17685	T	0.061232716	0.12656	0.1436463	0.34131	0.061232716	0.12655	0.1436463	0.34130	-5.359	0.40523	T	.	.	0.233	0.46666	B	.;.;.;.	.;.;.;.	1.600118	0.20457	14.76	0.98539848925130369	0.42707	0.00000	0.00017	N	AEFBCI	0.019397	0.00670	N	-0.571103290643361	0.19827	1.040719	-0.706724771515294	0.16793	0.8900453	0.00296184709884871	0.09834	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	1.16	1.16	0.19936	-0.449000	0.06885	.	.	-0.469000	0.05095	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.0:1.0:0.0	5.560	0.16425	912	0.21483	Krueppel-associated box|Krueppel-associated box;.;.;Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1936.98	38	chr4	444400	.	G	A	1936.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.080e-01;DP=895;ExcessHet=0.0000;FS=1.948;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=2.04;SOR=0.753	GT:AD:DP:GQ:PL	0/1:93,72:165:99:1951,0,2651	20	0	1	0
chr4	1351818	1351818	C	T	exonic	UVSSA	.	nonsynonymous SNV	UVSSA:NM_001317934:exon4:c.C533T:p.A178V	UV-sensitive syndrome 3, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.968	D	0.403	B	0.000	D	1.000	D	1.44	L	1.48	T	-1.072	T	0.083	T	0.583	3.154	16.55	5.11	2.389	4.523	18.527	0.139	0.0266340579345	.	.	0.0002	0	8.718e-05	0	0	0	0.0011	0.0016	0.0001876	29	154602	rs373828028	0.0001	0.0001	6.537e-05	0.0002	0.0013	9.945e-05	9.354e-05	0.0011	0.0010	0	0	0	0	0	0.0012	2.879e-05	0.0003	0.0013	3.938e-05	3.937e-05	1.284e-05	6.711e-05	0.0008	1.714e-05	1.128e-05	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0.0005	0.0008	0.025	0.47320	D	0.008	0.67890	D	0.968	0.56581	D	0.403	0.44588	B	0.000003	0.62929	D	0.102838	0.999998	0.58761	D	1.99	0.53851	M	1.48	0.31731	T	-2.13	0.48354	N	0.497	0.53357	-1.0722	0.08936	T	0.083	0.32499	T	10	0.043649048	0.03237	T	0.026634	0.49530	D	0.139	0.37390	.	.	0.144782658237	0.14088	0.060773034816232294	0.06017	0.106089494125	0.11996	0.402099132538	0.25362	T	0.02497	0.18762	T	-0.37026	0.03581	T	-0.334708	0.40943	T	0.088393822312355	0.11025	T	0.656934	0.26653	T	0.2069696	0.42889	0.1725506	0.39518	0.19224231	0.40886	0.17018466	0.39107	-7.897	0.60366	D	0.4450468896175523	0.52987	0.216	0.44501	B	.;.;.	.;.;.	4.113866	0.61441	24.3	0.99766147989002574	0.85500	0.93557	0.58542	D	AEFDGBCIJ	0.393382	0.47105	N	0.217886088990928	0.52066	3.383255	0.205512522432261	0.50152	3.210364	0.999999999999987	0.74766	0.631981	0.41245	0	0.26897	0.04874	2	0.779548	0.98927	0	0.683535	0.66460	0	.	.	5.11	5.11	0.69188	4.608000	0.60847	3.786000	0.39810	0.599000	0.40250	0.999000	0.42656	0.999000	0.35428	0.139000	0.19909	0.0:1.0:0.0:0.0	18.527	0.90928	795	0.45444	.;.;.	.	.	.	.	.	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	3174.11	35	chr4	1351818	.	C	T	3174.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.64;DP=921;ExcessHet=0.1072;FS=1.605;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.68;ReadPosRankSum=-9.810e-01;SOR=0.572	GT:AD:DP:GQ:PL	0/1:45,46:91:99:1187,0,998	19	0	2	0
chr4	2822952	2822952	A	G	exonic	SH3BP2	.	nonsynonymous SNV	SH3BP2:NM_001122681:exon3:c.A154G:p.I52V	Cherubism, Autosomal dominant	.	0	1515	7	0	0	7	0.00230491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.009	B	0.032	B	0.000	N	0.988	D	-0.02	N	3.29	T	-0.921	T	0.009	T	0.286	2.271	13.55	3.04	0.510	6.497	9.192	0.099	0.0120964230425	.	.	1.696e-05	0	8.909e-05	0	0	1.529e-05	0	0	1.29e-05	2	154602	rs757132275	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	1.32e-06	9.6e-07	2.987e-05	2.236e-05	0	0	0	0.0002	4.497e-06	0	0	6.577e-06	6.568e-06	0	1.347e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.142	0.27544	T	0.06	0.50514	T	0.002	0.09854	B	0.011	0.15521	B	0.000002	0.62929	N	0.057699	0.988473	0.40770	D	0.09	0.08384	N	3.29	0.06445	T	-0.23	0.14782	N	0.342	0.39962	-0.9213	0.45376	T	0.009	0.03315	T	10	0.15025672	0.28422	T	0.012096	0.30367	T	0.099	0.28413	0.428	0.47515	0.48087575253	0.47718	.	.	0.137031374961	0.15456	0.519187808037	0.41512	T	0.258743	0.62993	T	-0.239157	0.15456	T	-0.498443	0.22508	T	0.327389299869537	0.26120	T	0.833117	0.51562	T	0.046104364	0.07661	0.062299185	0.12166	0.046104364	0.07660	0.062299185	0.12166	-2.982	0.21523	T	0.25122325436606685	0.33997	0.077	0.08754	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	2.454497	0.31607	18.79	0.98893251830068862	0.48037	0.96065	0.67374	D	AEFBI	0.841402	0.75860	D	-0.437821390363016	0.24155	1.302272	-0.244690951949038	0.29954	1.682486	0.999942724305003	0.47345	0.719381	0.83141	0	0.702456	0.74545	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	4.24	3.04	0.34171	6.773000	0.74802	3.380000	0.37995	0.686000	0.82685	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.9102:0.0:0.0898:0.0	9.192	0.36368	745	0.52414	Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;.;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|Pleckstrin homology domain;Pleckstrin homology domain|Pleckstrin homology domain|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	1302.98	35	chr4	2822952	.	A	G	1302.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.270e+00;DP=835;ExcessHet=0.0000;FS=4.447;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-2.058e+00;SOR=0.945	GT:AD:DP:GQ:PL	0/1:63,56:119:99:1317,0,1636	20	0	1	0
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	1/1:0,17,0,0,0,0,0:27:79:.:.:1090,79,0,943,82,916,943,82,916,916,943,82,916,916,916,943,82,916,916,916,916,943,82,916,916,916,916,916	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	1/1:0,17,0,0,0,0,0:27:79:.:.:1090,79,0,943,82,916,943,82,916,916,943,82,916,916,916,943,82,916,916,916,916,943,82,916,916,916,916,916	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	1/1:0,17,0,0,0,0,0:27:79:.:.:1090,79,0,943,82,916,943,82,916,916,943,82,916,916,916,943,82,916,916,916,916,943,82,916,916,916,916,916	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	1/1:0,17,0,0,0,0,0:27:79:.:.:1090,79,0,943,82,916,943,82,916,916,943,82,916,916,916,943,82,916,916,916,916,943,82,916,916,916,916,916	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	1/1:0,17,0,0,0,0,0:27:79:.:.:1090,79,0,943,82,916,943,82,916,916,943,82,916,916,916,943,82,916,916,916,916,943,82,916,916,916,916,916	3	1	1	0
chr4	3430503	3430503	G	A	exonic	RGS12	.	nonsynonymous SNV	RGS12:NM_198227:exon15:c.G1718A:p.R573H	.	.	418	1103	1	0	0	1	0.000453104	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.891	P	0.287	B	0.000	D	1.000	D	2.33	M	1.09	T	-0.717	T	0.158	T	0.707	4.353	22.9	4.76	2.193	5.975	16.774	0.172	0.018911028987	.	.	8.263e-06	9.649e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs746987803	1.642e-05	1.642e-05	1.906e-05	1.375e-05	0.0001	1.111e-05	9.34e-06	5.849e-05	3.758e-05	0.0001	0	0	2.519e-05	0	0	1.169e-05	3.312e-05	3.478e-05	3.285e-05	3.283e-05	3.854e-05	2.69e-05	0.0001	1.261e-05	7.98e-06	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	0	0	0	0.046	0.42199	D	0.071	0.46632	T	0.891	0.49025	P	0.15	0.36167	B	0.000004	0.62929	D	0.063289	0.999999	0.81001	D	2.295	0.65404	M	1.09	0.49358	T	-2.6	0.57599	D	0.369	0.44761	-0.7174	0.59590	T	0.158	0.49027	T	10	0.22675204	0.39538	T	0.018911	0.41124	T	0.172	0.43662	.	.	0.634262326541	0.63126	0.2943784048366297	0.29350	0.249637812395	0.27546	0.586432218552	0.50992	T	0.124795	0.45006	T	-0.0605727	0.42817	T	-0.143257	0.59834	T	0.868280053138733	0.51825	D	0.90141	0.65732	D	0.182916	0.39534	0.116366915	0.28092	0.182916	0.39534	0.116366915	0.28091	-7.161	0.58757	T	.	.	0.098	0.32469	B	.;.;.;.	.;.;.;.	4.478039	0.69836	25.4	0.99582082592530752	0.73040	0.98393	0.82318	D	AEFBI	0.709162	0.66334	D	0.227645082564665	0.52541	3.427774	0.194204833116932	0.49530	3.154977	0.999992908993909	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.76	4.76	0.60189	6.185000	0.71948	11.424000	0.92722	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	16.774	0.85408	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	0	0	0	0	0.02381	1429.98	34	chr4	3430503	.	G	A	1429.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.14;DP=803;ExcessHet=0.0000;FS=0.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-7.860e-01;SOR=0.836	GT:AD:DP:GQ:PL	0/1:50,58:108:99:1444,0,1114	20	0	1	0
chr4	5992880	5992880	C	A	exonic	C4orf50	.	nonsynonymous SNV	C4orf50:NM_001364690:exon4:c.G607T:p.A203S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10410553	0.19174	T	.	.	.	.	.	.	.	.	.	0.02420613222512127	0.02371	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.371963	0.08817	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.101	0.17445	B	.	.	0.570423	0.09389	6.169	0.70297180590517439	0.09250	0.03592	0.08815	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.00479043309594622	0.10711	0.078448	0.01964	0	0.066906	0.01782	0	0.083675	0.02720	0	0.062806	0.01542	0	0.0757357	0.17567	2.98	1.23	0.20358	-0.140000	0.10323	-1.163000	0.06147	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7223:0.0:0.2777	5.224	0.14704	988	0.01987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	36.99	5	chr4	5992880	.	C	A	36.99	.	AC=2;AF=0.083;AN=24;DP=59;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.2818;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=18.50;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	9
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	0/1:94,51:145:99:496,0,2167	0	0	21	0
chr4	9249857	9249857	A	G	exonic	USP17L11;USP17L18	.	nonsynonymous SNV	USP17L11:NM_001256854:exon1:c.A1228G:p.R410G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.037	B	0.032	B	0.110	U	1.000	N	0.69	N	1.07	T	-1.038	T	0.072	T	0.079	0.050	4.272	-0.739	-0.468	-0.292	.	0.001	0.00305649019989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.875e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.261	0.23845	T	0.037	0.20876	B	0.032	0.22131	B	0.109895	0.02628	U	2.313150	1	0.08975	N	0.6	0.15550	N	1.07	0.39586	T	-1.24	0.31375	N	0.074	0.05037	-1.0379	0.17954	T	0.072	0.29227	T	9	0.067789376	0.09495	T	0.003056	0.06577	T	0.001	0.00016	0.238	0.16912	0.263140351381	0.25927	0.011678153958678028	0.01127	.	.	0.447811961174	0.31646	T	0.018937	0.15180	T	-0.31143	0.07623	T	-0.685124	0.06676	T	0.222021639347076	0.21564	T	0.470053	0.13899	T	0.13180117	0.30709	0.119795635	0.28913	0.13180117	0.30709	0.119795635	0.28912	-4.072	0.24876	T	.	.	0.061	0.01179	B	.;.	.;.	0.735822	0.11051	7.705	0.74414780221818511	0.10687	0.00053	0.00405	N	AEFI	0.021792	0.01013	N	-1.22066005812331	0.04701	0.2127285	-1.35018625206933	0.03804	0.1781689	1.37642099307455E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.37	-0.739	0.10560	-0.081000	0.11285	.	.	0.327000	0.19478	0.001000	0.13787	0.000000	0.08366	0.041000	0.14368	.	.	.	.	.	Hyaluronan/mRNA-binding protein;Hyaluronan/mRNA-binding protein	.	.	.	.	.	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	40.23	114	chr4	9249857	.	A	G	40.23	.	AC=2;AF=0.125;AN=16;DP=114;ExcessHet=0.0000;FS=0.000;MLEAC=3;MLEAF=0.188;MQ=42.50;QD=20.11;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	7	1	0	13
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|3:29,0,0,7,0:36:99:0|1:15004125_C_CGGGGGGGGGGG:128,216,1412,216,1412,1412,0,1196,1196,1175,216,1412,1412,1196,1412:15004125	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|3:29,0,0,7,0:36:99:0|1:15004125_C_CGGGGGGGGGGG:128,216,1412,216,1412,1412,0,1196,1196,1175,216,1412,1412,1196,1412:15004125	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|3:29,0,0,7,0:36:99:0|1:15004125_C_CGGGGGGGGGGG:128,216,1412,216,1412,1412,0,1196,1196,1175,216,1412,1412,1196,1412:15004125	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|3:29,0,0,7,0:36:99:0|1:15004125_C_CGGGGGGGGGGG:128,216,1412,216,1412,1412,0,1196,1196,1175,216,1412,1412,1196,1412:15004125	16	0	1	0
chr4	15540994	15540994	C	T	exonic	CC2D2A	.	nonsynonymous SNV	CC2D2A:NM_001378617:exon15:c.C2014T:p.P672S	COACH syndrome, Autosomal recessive;Joubert syndrome 9, Autosomal recessive;Meckel syndrome 6, Autosomal recessive	.	3	1500	16	3	0	22	0.00727995	.	.	191984	Meckel-Gruber_syndrome|Familial_aplasia_of_the_vermis|Joubert_syndrome_1|not_specified|not_provided|Meckel_syndrome,_type_6	MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orphanet:564|MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284,Orphanet:564	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.61	M	-2.14	D	0.797	D	0.808	D	0.981	4.823	27.3	4.94	2.451	7.578	18.528	0.955	.	0.0003	0.00399361	0.0053	0	0.0026	0	0	0.0032	0.0048	0.0120	0.0011966	185	154602	rs199768782	0.0017	0.0016	0.0014	0.0019	0.0099	0.0016	0.0016	0.0093	0.0091	0.0003	0.0005	0.0080	2.8e-05	2.03e-05	0.0060	0.0011	0.0022	0.0099	0.0011	0.0011	0.0010	0.0013	0.0127	0.0010	0.0009	0.0101	0.0092	0.0001	0	0.0009	0.0078	0	0	0	0.0009	0.0019	0.0127	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	2.695	0.78878	M	-2.14	0.86415	D	-6.12	0.90060	D	0.98	0.99015	0.797	0.94374	D	0.808	0.93515	D	10	0.033253044	0.01496	T	.	.	.	0.955	0.99221	.	.	0.971080275067	0.97077	0.7533763064890243	0.75284	0.304595107868	0.32764	0.565320968628	0.48018	T	0.727191	0.92335	D	0.110485	0.65404	D	0.39389	0.91911	D	0.0673970474467973	0.08280	T	0.90041	0.65400	D	0.79635006	0.83673	0.80519795	0.88596	0.8174664	0.85051	0.7884969	0.87553	-12.273	0.86155	D	0.5879459662494746	0.65473	0.954	0.87349	P	.;.	.;.	4.698320	0.75353	26.3	0.99922440006476421	0.98852	0.94860	0.62581	D	AEFBHCI	0.876338	0.80028	D	0.842543671979608	0.88679	9.669978	0.789894522278762	0.89082	9.831114	0.999999999266972	0.74766	0.624846	0.39970	0	0.588015	0.36545	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	4.94	4.94	0.64645	7.641000	0.82513	7.549000	0.60236	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.0:1.0:0.0:0.0	18.528	0.90930	609	0.67094	CC2D2A, N-terminal, C2 domain;CC2D2A, N-terminal, C2 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	0.02381	1109.98	37	chr4	15540994	.	C	T	1109.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.96;DP=769;ExcessHet=0.0000;FS=4.511;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=2.81;SOR=1.221	GT:AD:DP:GQ:PL	0/1:34,42:76:99:1124,0,749	20	0	1	0
chr4	36229459	36229459	C	T	exonic	ARAP2	.	nonsynonymous SNV	ARAP2:NM_015230:exon2:c.G28A:p.D10N,	.	.	441	1056	21	4	0	29	0.0135451	.	.	2822473	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.896	P	0.721	P	0.046	N	0.998	N	2.395	M	-0.05	T	-0.507	T	0.356	T	0.02	3.957	20.2	5.58	2.630	2.854	12.906	0.345	0.0190945144254	0.0014	0.00219649	0.0021	0.0001	0.0007	0	0	0.0023	0.0023	0.0057	0.0018176	281	154602	rs147255071	0.0016	0.0016	0.0014	0.0018	0.0156	0.0016	0.0016	0.0130	0.0121	0.0003	0.0008	0.0020	5.046e-05	9.38e-05	0.0156	0.0014	0.0026	0.0051	0.0016	0.0016	0.0017	0.0014	0.0081	0.0014	0.0013	0.0061	0.0054	0.0002	0	0.0018	0.0014	0	0	0.0102	0.0022	0.0028	0.0081	0.01	0.61437	D	0.041	0.58089	D	0.896	0.49324	P	0.721	0.54900	P	0.046460	0.23438	N	0.439072	0.998027	0.22390	N	2.415	0.69758	M	-0.05	0.63403	T	-1.54	0.71157	N	0.177	0.19055	-0.5071	0.68392	T	0.356	0.71897	T	10	0.009949297	0.00223	T	0.019095	0.41369	T	0.345	0.66676	.	.	0.645408611234	0.64247	0.5151473116475712	0.51437	0.0827273509579	0.09334	0.630742430687	0.57251	T	0.016557	0.13660	T	-0.525967	0.00406	T	-0.527201	0.19567	T	0.0417767271637241	0.04013	T	0.864914	0.56300	D	0.12813233	0.29965	0.093509234	0.22089	0.12813233	0.29965	0.093509234	0.22089	-5.079	0.37685	T	.	.	0.086	0.16800	B	.;.	.;.	3.387903	0.46888	22.4	0.99904591426530143	0.97576	0.81189	0.40646	D	AEFBI	0.173637	0.30072	N	0.584390645449768	0.72200	5.768433	0.571800366175148	0.72925	5.888	0.999998576847307	0.74766	0.706298	0.61202	0	0.709663	0.81188	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.58	5.58	0.84361	2.913000	0.48487	6.004000	0.52535	0.599000	0.40250	0.990000	0.36992	1.000000	0.68203	0.973000	0.55318	0.0:0.9259:0.0:0.0741	12.906	0.57547	726	0.54788	Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	901.98	39	chr4	36229459	.	C	T	901.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.950e-01;DP=775;ExcessHet=0.0000;FS=3.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.32;ReadPosRankSum=-4.500e-01;SOR=0.333	GT:AD:DP:GQ:PL	0/1:28,35:63:99:916,0,768	20	0	1	0
chr4	40432704	40432704	C	T	exonic	RBM47	.	nonsynonymous SNV	RBM47:NM_019027:exon4:c.G1282A:p.A428T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.068	B	0.01	B	0.000	D	0.998	N	1.5	L	2.06	T	-1.035	T	0.035	T	0.297	0.876	8.552	0.468	0.488	1.300	.	0.084	0.0338051837333	.	.	0.0001	0	8.772e-05	0	0	3.097e-05	0	0.0006	7.76e-05	12	154602	rs780492136	6.043e-05	6.018e-05	4.286e-05	7.819e-05	0.0007	4.958e-05	4.632e-05	0.0003	0.0003	0	2.325e-05	0	2.564e-05	0	0.0007	3.644e-05	5.045e-05	0.0005	2.653e-05	2.649e-05	3.892e-05	1.357e-05	0.0004	8.2e-06	5.18e-06	6.879e-05	2.876e-05	0	0	0	0	0.0004	0	0	1.487e-05	0	0.0002	0.114	0.59928	T	0.439	0.13365	T	0.019	0.23728	B	0.002	0.14941	B	0.000002	0.62929	D	0.101238	0.999268	0.22137	N	0.345	0.11182	N	1.95	0.22474	T	0.4	0.08187	N	0.305	0.43029	-1.0346	0.18983	T	0.035	0.15247	T	9	0.06024596	0.07370	T	0.033805	0.55241	D	0.084	0.24469	0.279	0.23323	0.0934897674506	0.08844	0.7611333511787579	0.76061	0.290742149187	0.31481	0.493936300278	0.37985	T	0.07052	0.33980	T	-0.409371	0.02007	T	-0.509654	0.21350	T	0.0459646010103354	0.04777	T	0.80472	0.45238	T	0.13334163	0.31017	0.12158392	0.29335	0.13334163	0.31017	0.12158392	0.29334	-8.314	0.63190	D	.	.	0.115	0.25364	B	.;.;.;.	.;.;.;.	2.917392	0.38715	20.8	0.93638592852220792	0.23516	0.89551	0.50087	D	AEFDBI	0.229964	0.35341	N	-0.801491282774851	0.13272	0.652648	-0.893717353325239	0.12242	0.6285868	0.485778628991534	0.20822	0.787689	0.99735	0	0.71359	0.82159	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	0.468	0.468	0.15943	1.323000	0.33307	1.739000	0.28386	0.531000	0.24825	0.993000	0.37899	0.026000	0.21063	0.002000	0.04165	.	.	.	835	0.38313	.;.;.;.	.	.	.	.	.	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	1817.98	33	chr4	40432704	.	C	T	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.688;DP=813;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-2.570e-01;SOR=0.676	GT:AD:DP:GQ:PL	0/1:52,68:120:99:1832,0,1226	20	0	1	0
chr4	40827150	40827150	G	C	exonic	APBB2	.	nonsynonymous SNV	APBB2:NM_001166051:exon3:c.C67G:p.L23V	.	.	434	1085	3	0	0	3	0.00138058	.	.	3289580	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.999	D	0.998	D	0.000	D	1.000	D	-1.265	N	2.57	T	-0.959	T	0.069	T	0.261	0.646	7.470	5.89	2.797	6.297	20.256	0.213	0.0257987342774	.	.	0.0002	0	0.0005	0	0	0.0002	0	0.0002	0.0001552	24	154602	rs111676334	0.0001	0.0001	9.801e-05	0.0002	0.0007	0.0001	0.0001	0.0005	0.0005	0	0.0003	0.0025	0	0	0.0007	1.889e-05	0.0003	0.0007	0.0001	0.0001	8.992e-05	0.0001	0.0003	7.09e-05	5.747e-05	8.876e-05	5.385e-05	0	0	0.0003	0.0020	0	0	0	5.879e-05	0.0005	0.0002	0.862	0.04685	T	0.783	0.41239	T	0.999	0.77913	D	0.996	0.88582	D	0.000029	0.55875	D	0.123991	0.999969	0.52935	D	1.01	0.25309	L	2.52	0.42888	T	0.29	0.10308	N	0.562	0.60579	-0.9591	0.39349	T	0.069	0.28147	T	10	0.030318528	0.01158	T	0.025799	0.48750	D	0.308	0.62947	.	.	0.565757058302	0.56239	0.3790187906591514	0.37816	1.05166733854	0.76173	0.403711229563	0.25586	T	0.092781	0.39074	T	-0.381117	0.03065	T	-0.448965	0.27811	T	0.120380663994677	0.14467	T	0.890111	0.62362	D	0.048354752	0.08413	0.062025122	0.12069	0.048354752	0.08413	0.062025122	0.12068	-4.487	0.44435	T	.	.	0.072	0.04640	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	3.461325	0.48248	22.6	0.85760951317924805	0.16095	0.98914	0.88555	D	AEFDBI	0.826625	0.74608	D	-0.152740674938611	0.35118	2.01312	-0.0463122777255258	0.37651	2.207343	0.999999488107589	0.74766	0.719381	0.83141	0	0.653731	0.59785	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.89	5.89	0.94758	6.113000	0.71239	9.903000	0.82365	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.0:0.0:1.0:0.0	20.256	0.98421	670	0.60992	.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	614.98	33	chr4	40827150	.	G	C	614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.220e-01;DP=758;ExcessHet=0.0000;FS=1.007;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.42;ReadPosRankSum=1.27;SOR=0.950	GT:AD:DP:GQ:PL	0/1:33,26:59:99:629,0,891	20	0	1	0
chr4	48581520	48581520	G	A	exonic	FRYL	.	nonsynonymous SNV	FRYL:NM_015030:exon21:c.C2072T:p.A691V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.939	D	0.000	U	1.000	D	2.595	M	3.64	T	-0.430	T	0.274	T	0.962	5.119	32	5.87	2.941	9.420	20.583	0.523	.	.	0.00379393	0.0011	0	0	0.0153	0	1.505e-05	0	0.0004	0.0011449	177	154602	rs148840944	0.0004	0.0004	0.0004	0.0004	0.0104	0.0003	0.0003	0.0096	0.0093	0	4.472e-05	0	0.0104	0	0	8.094e-06	0.0011	0.0003	0.0006	0.0006	0.0005	0.0007	0.0147	0.0005	0.0004	0.0120	0.0110	4.816e-05	0	0.0004	0	0.0147	0	0	2.941e-05	0	0.0006	0.0	0.91255	D	0.003	0.76473	D	0.999	0.77913	D	0.932	0.67449	D	0.000000	0.84330	U	0.000000	1	0.81001	D	2.14	0.59869	M	3.64	0.50721	T	-3.64	0.72120	D	0.966	0.98065	-0.4303	0.71057	T	0.274	0.64525	T	10	0.01181224	0.00257	T	.	.	.	0.523	0.79765	.	.	0.536878667166	0.53338	0.68550832454902	0.68489	0.871174705938	0.69399	0.6046615839	0.53563	T	0.371877	0.73617	T	-0.0445434	0.45271	T	0.17752	0.81853	D	0.0773460631130135	0.09643	T	0.995367	0.98413	D	0.7267098	0.79538	0.6359496	0.78745	0.7267098	0.79539	0.6359496	0.78746	-8.998	0.67685	D	.	.	0.597	0.78953	P	.;.;.;.	.;.;.;.	5.569991	0.92213	32	0.99912327824777447	0.98167	0.99380	0.95276	D	AEFBI	0.857231	0.77456	D	0.91980801143144	0.92697	11.57438	0.886506896457297	0.94957	13.18641	0.999999999990455	0.74766	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.87	5.87	0.94266	9.602000	0.97623	11.844000	0.97886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:1.0:0.0	20.583	0.99411	139	0.94486	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1544.98	44	chr4	48581520	.	G	A	1544.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.839e+00;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=0.914;SOR=0.655	GT:AD:DP:GQ:PL	0/1:48,64:112:99:1559,0,1171	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	0/1:98,27:125:3:3,0,2150	14	0	7	0
chr4	56314535	56314535	A	G	exonic	CRACD	.	nonsynonymous SNV	CRACD:NM_020722:exon8:c.A1033G:p.R345G,	.	.	356	1124	39	3	0	45	0.0196249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.96	D	0.643	P	.	.	1.000	N	0.695	N	4.52	T	-0.885	T	0.005	T	0.229	2.125	13.06	1.2	-0.012	0.488	8.674	0.050	.	0.0033	0.00678914	0.0128	0.0012	0.0152	0	0.02	0.0157	0.0147	0.0141	0.003758	581	154602	rs181288707	0.0101	0.0097	0.0100	0.0101	0.0316	0.0099	0.0099	0.0271	0.0254	0.0025	0.0093	0.0059	0	0.0023	0.0316	0.0112	0.0099	0.0071	0.0085	0.0085	0.0083	0.0087	0.0159	0.0081	0.0080	0.0142	0.0136	0.0023	0.0518	0.0159	0.0081	0	0.0013	0.0621	0.0114	0.0162	0.0077	0.012	0.54683	D	0.247	0.23984	T	0.96	0.55278	D	0.643	0.52216	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	4.52	0.01997	T	-2.69	0.58407	D	0.076	0.06990	-0.8846	0.49390	T	0.005	0.01506	T	9	0.004870236	0.00104	T	.	.	.	0.050	0.13987	.	.	0.193865811164	0.18958	0.04833071238415083	0.04776	0.351719312492	0.37009	0.401592552662	0.25290	T	0.013176	0.25379	T	-0.607411	0.00131	T	-0.634249	0.10094	T	0.0371497133714363	0.03182	T	0.513749	0.25428	T	0.15109834	0.34367	0.23682012	0.48963	0.15109834	0.34366	0.23682012	0.48962	-8.088	0.61669	D	.	.	0.164	0.48837	B	.;.;.;.;.	.;.;.;.;.	0.432212	0.08027	4.745	0.8199269451612442	0.13964	0.38591	0.26023	N	AEFDBCI	0.196794	0.32375	N	-0.471405951265528	0.23022	1.23333	-0.612543006750399	0.19170	1.027386	0.999877986188953	0.44625	0.695654	0.57023	0	0.588015	0.36545	0	0.723109	0.80598	0	0.567892	0.33627	0	.	.	4.97	1.2	0.20181	-1.893000	0.01700	-5.867000	0.01570	-0.182000	0.10109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7855:0.0:0.2145:0.0	8.674	0.33327	283	0.88803	.;.;.;.;.	.	.	.	.	.	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	626.11	17	chr4	56314535	.	A	G	626.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.456e+00;DP=510;ExcessHet=0.1072;FS=4.237;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.61;ReadPosRankSum=2.67;SOR=0.285	GT:AD:DP:GQ:PL	0/1:14,14:28:99:358,0,394	19	0	2	0
chr4	56378148	56378148	C	A	exonic	AASDH	.	nonsynonymous SNV	AASDH:NM_001286668:exon3:c.G368T:p.R123L	.	.	424	1095	3	0	0	3	0.00136799	0.9973	0.65	2822532	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.989	D	0.891	P	0.011	N	1.000	D	1.745	L	1.06	T	-0.912	T	0.173	T	0.535	2.946	15.82	1.16	0.107	0.551	13.021	0.243	0.0492750021301	0.0028	0.00119808	0.0027	9.664e-05	0.0005	0	0.0053	0.0039	0.0012	0.0017	0.0026649	412	154602	rs73240543	0.0038	0.0038	0.0039	0.0038	0.0044	0.0037	0.0037	0.0043	0.0042	0.0004	0.0004	3.991e-05	0	0.0054	0.0044	0.0044	0.0042	0.0013	0.0024	0.0023	0.0025	0.0022	0.0037	0.0022	0.0021	0.0033	0.0032	0.0005	0.0197	0.0003	0	0	0.0049	0	0.0037	0.0028	0.0010	0.007	0.68238	D	0.009	0.66756	D	0.959	0.62824	D	0.678	0.63213	P	0.011013	0.29696	N	0.344624	1	0.81001	D	2.02	0.55341	M	1.06	0.39781	T	-4.52	0.78302	D	0.572	0.59478	-0.9117	0.46645	T	0.173	0.51579	T	9	0.016572744	0.00350	T	0.049275	0.63741	D	0.243	0.54921	.	.	0.525205403968	0.52167	0.7784720199984064	0.77797	0.36845708657	0.38399	0.20993205905	0.00808	T	0.072765	0.35927	T	-0.400759	0.02289	T	-0.34652	0.39604	T	0.0453639667436107	0.04668	T	0.90311	0.66162	D	0.24539839	0.47498	0.27441525	0.53370	0.24539839	0.47498	0.27441525	0.53369	-11.702	0.85897	D	.	.	0.288	0.51985	B	.;.;.;.;.	.;.;.;.;.	3.313958	0.45546	22.1	0.98978681704468419	0.49680	0.93278	0.57791	D	AEFBI	0.641784	0.61899	D	-0.240262257991727	0.31494	1.766498	-0.293620820487855	0.28309	1.577459	0.694675189892409	0.22627	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.82	1.16	0.19936	0.601000	0.23818	-0.027000	0.12846	-1.682000	0.00784	0.993000	0.37899	0.716000	0.26323	0.203000	0.21983	0.0:0.6926:0.0:0.3074	13.021	0.58190	323	0.86843	AMP-dependent synthetase/ligase;.;.;AMP-dependent synthetase/ligase;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1616.98	33	chr4	56378148	.	C	A	1616.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.600e-01;DP=826;ExcessHet=0.0000;FS=2.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=1.37;SOR=0.460	GT:AD:DP:GQ:PL	0/1:52,63:115:99:1631,0,1427	20	0	1	0
chr4	68945392	68945392	A	C	exonic	UGT2A3	.	nonsynonymous SNV	UGT2A3:NM_024743:exon2:c.T778G:p.W260G,	.	.	1	1406	110	5	0	120	0.0409277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.998	D	0.977	D	0.000	D	1.000	D	3.515	H	0.11	T	-0.005	T	0.447	T	0.662	2.807	15.35	3.23	1.465	5.405	9.770	0.429	.	0.0028	0.00698882	0.0073	0.0005	0.0013	0	0	0.0036	0.0145	0.0372	0.00641	991	154602	rs62641705	0.0041	0.0041	0.0028	0.0053	0.0384	0.0040	0.0039	0.0373	0.0369	0.0003	0.0010	0.0215	7.576e-05	5.629e-05	0.0172	0.0014	0.0057	0.0384	0.0030	0.0030	0.0030	0.0030	0.0359	0.0027	0.0027	0.0315	0.0298	0.0002	0	0.0015	0.0239	0.0002	0.0003	0.0102	0.0022	0.0033	0.0359	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.977	0.73820	D	0.000000	0.84330	D	0.000000	0.986033	0.81001	D	3.65	0.94181	H	0.11	0.61208	T	-12.01	0.99630	D	0.741	0.74098	-0.0049	0.82155	T	0.447	0.78252	T	10	0.012360334	0.00266	T	.	.	.	0.429	0.73590	.	.	0.758552508207	0.75635	0.49207756518636214	0.49128	0.0192299428785	0.01881	0.445290029049	0.31300	T	0.210524	0.57104	T	-0.218644	0.18177	T	-0.0596829	0.66354	T	0.126290748303984	0.15035	T	.	.	.	0.91043717	0.92336	0.72808266	0.83935	0.91043717	0.92337	0.72808266	0.83936	-10.86	0.78884	D	.	.	0.635	0.70300	P	.	.	3.289622	0.45108	22.1	0.97635165120610046	0.35046	0.95821	0.66297	D	AEFBI	0.805579	0.73012	D	0.596173627938472	0.72934	5.884708	0.424873680903011	0.63117	4.539405	0.998945740685995	0.38034	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.23	3.23	0.36150	5.361000	0.65845	.	.	0.572000	0.28966	1.000000	0.71638	1.000000	0.68203	0.008000	0.08271	1.0:0.0:0.0:0.0	9.770	0.39750	644	0.63734	.	.	.	.	.	.	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	0.09524	3725.92	38	chr4	68945392	.	A	C	3725.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.18;DP=994;ExcessHet=0.6776;FS=0.758;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=9.31;ReadPosRankSum=0.591;SOR=0.746	GT:AD:DP:GQ:PL	0/1:70,42:112:99:958,0,1656	17	0	4	0
chr4	69018306	69018306	T	G	exonic	UGT2B10	.	nonsynonymous SNV	UGT2B10:NM_001290091:exon3:c.A56C:p.H19P,	.	.	425	1077	20	0	0	20	0.00919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00219649	0.0023	9.812e-05	0.0003	0	0	0.0015	0.0022	0.0100	0.0019922	308	154602	rs200086061	0.0012	0.0012	0.0009	0.0015	0.0100	0.0011	0.0011	0.0094	0.0092	5.986e-05	0.0002	0.0192	0	0	0.0033	0.0002	0.0023	0.0100	0.0010	0.0010	0.0011	0.0009	0.0081	0.0009	0.0008	0.0061	0.0054	7.218e-05	0	0.0004	0.0219	0	0	0	0.0003	0.0014	0.0081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	6689.11	40	chr4	69018306	.	T	G	6689.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.22;DP=1256;ExcessHet=0.1072;FS=0.519;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.93;MQRankSum=0.562;QD=11.51;ReadPosRankSum=0.158;SOR=0.761	GT:AD:DP:GQ:PL	0/1:151,145:296:99:3492,0,3590	19	0	2	0
chr4	81447569	81447569	T	C	exonic	RASGEF1B	.	nonsynonymous SNV	RASGEF1B:NM_001300736:exon5:c.A538G:p.N180D	.	.	.	.	.	.	.	.	.	.	.	3191854	RASGEF1B-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.24	T	0.009	B	0.045	B	0.000	D	1.000	D	0.83	L	1.56	T	-1.106	T	0.042	T	0.109	2.963	15.88	5.01	2.106	5.721	14.552	0.051	.	0.0006	0.00119808	0.0035	0	0	0	0.0381	0.0026	0.0056	0	0.0028201	436	154602	rs111863430	0.0020	0.0021	0.0022	0.0019	0.0006	0.0020	0.0020	0.0006	0.0006	2.988e-05	2.236e-05	0	0	0.0412	0	0.0006	0.0016	0	0.0040	0.0040	0.0024	0.0057	0.0017	0.0037	0.0036	0.0014	0.0013	0	0	0	0.0003	0	0.0467	0	0.0017	0.0005	0	0.013	0.55530	D	0.012	0.63918	D	0.008	0.15093	B	0.016	0.24526	B	0.000000	0.84330	D	0.046294	0.999658	0.48079	D	1.515	0.38264	L	1.56	0.29602	T	-1.61	0.38734	N	0.519	0.54932	-1.1062	0.03417	T	0.042	0.18202	T	10	0.0074291527	0.00169	T	.	.	.	0.051	0.14325	.	.	0.238096912614	0.23440	0.29126952495136554	0.29039	0.341207361243	0.36058	0.664999008179	0.62125	T	0.057791	0.30665	T	-0.547525	0.00302	T	-0.55858	0.16509	T	0.0593631181837364	0.07068	T	0.940206	0.77472	D	0.43433934	0.63035	0.47577834	0.69623	0.43433934	0.63036	0.47577834	0.69624	-11.369	0.81642	D	.	.	0.193	0.44174	B	.;.;.;.;.	.;.;.;.;.	3.679872	0.52371	23.2	0.99554541496685911	0.71335	0.99315	0.94380	D	AEFBI	0.690367	0.65072	D	-0.116393222436982	0.36679	2.123376	0.0570749965767764	0.42415	2.565055	0.999972882735648	0.50053	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.01	5.01	0.66477	5.940000	0.69902	4.058000	0.41564	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:0.0:1.0	14.552	0.67663	801	0.44448	.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain;.;Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain|Ras guanine-nucleotide exchange factors catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1138.98	35	chr4	81447569	.	T	C	1138.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.175;DP=796;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=0.067;SOR=0.648	GT:AD:DP:GQ:PL	0/1:49,50:99:99:1153,0,1139	20	0	1	0
chr4	82857715	82857715	C	T	exonic	SEC31A	.	nonsynonymous SNV	SEC31A:NM_001300744:exon13:c.G1559A:p.G520E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.022	B	0.015	B	0.365	N	0.549	N	0.205	N	3.23	T	-1.031	T	0.047	T	0.225	1.365	10.49	5.01	1.476	1.817	7.196	0.027	0.00722142938881	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299691420	0	3.421e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.212	0.27904	T	0.194	0.42614	T	0.0	0.18677	B	0.002	0.17295	B	0.364694	0.13617	N	0.739451	0.54891	0.32116	D	-0.46	0.02758	N	1.39	0.37405	T	-0.95	0.30346	N	0.138	0.16586	-1.0309	0.20163	T	0.047	0.19998	T	10	0.105351955	0.19468	T	0.007221	0.19143	T	0.027	0.05988	0.356	0.35734	0.388812400583	0.38497	0.2845976790904441	0.28372	0.201426189278	0.22544	0.490566432476	0.37517	T	0.030175	0.21449	T	-0.184982	0.22997	T	-0.50349	0.21987	T	0.134642779827118	0.15804	T	0.882412	0.61002	D	0.0582937	0.11709	0.06487686	0.13067	0.0582937	0.11709	0.06487686	0.13067	-4.968	0.42416	T	.	.	0.081	0.08851	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.512387	0.32452	19.05	0.961338932891461	0.28814	0.81300	0.40733	D	AEFBI	0.176226	0.30343	N	-0.378738582245893	0.26229	1.429835	-0.178408093620939	0.32331	1.838385	0.711181933749235	0.22822	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.85	5.01	0.66477	1.853000	0.38998	2.515000	0.33093	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.776000	0.36750	0.0:0.6809:0.1349:0.1841	7.196	0.25028	921	0.19240	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1167.98	34	chr4	82857715	.	C	T	1167.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.20;DP=866;ExcessHet=0.0000;FS=1.481;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.65;ReadPosRankSum=-3.750e-01;SOR=0.909	GT:AD:DP:GQ:PL	0/1:72,49:121:99:1182,0,1814	20	0	1	0
chr4	82863371	82863371	G	A	exonic	SEC31A	.	nonsynonymous SNV	SEC31A:NM_001191049:exon11:c.C1441T:p.R481C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	3.38	M	2.79	T	-0.557	T	0.255	T	0.891	5.253	33	5.23	2.614	9.813	19.170	0.553	0.0756461852381	.	.	1.658e-05	0	0	0	0	3.014e-05	0	0	1.94e-05	3	154602	rs780801269	9.142e-06	1.095e-05	8.401e-06	9.89e-06	9.108e-06	5.1e-06	3.93e-06	4.61e-06	3.36e-06	0	0	0	0	0	0	9.108e-06	5.1e-05	0	3.298e-05	3.287e-05	3.866e-05	2.703e-05	5.889e-05	1.265e-05	8.01e-06	1.974e-05	1.126e-05	2.425e-05	0	0	0	0	0	0	5.889e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.979	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.485	0.92608	M	0.95	0.58613	T	-7.78	0.96317	D	0.945	0.95374	-0.5575	0.66500	T	0.255	0.62541	T	10	0.7906233	0.78628	D	0.075646	0.72338	D	0.664	0.87479	0.542	0.65446	0.620499027837	0.61742	0.7524725823523698	0.75194	0.716206577235	0.61982	0.767452478409	0.77043	T	0.656642	0.89645	D	0.307879	0.83585	D	0.28071	0.87162	D	0.997347712516785	0.91335	D	0.975102	0.91818	D	0.8741414	0.89192	0.75437224	0.85483	0.8741414	0.89193	0.75437224	0.85484	-10.195	0.75194	D	.	.	0.855	0.80085	P	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.878754	0.93922	33	0.999288650200436	0.99222	0.99876	0.99923	D	AEFBI	0.956732	0.97546	D	0.668595563849586	0.77578	6.701491	0.686710440778711	0.81367	7.510533	0.999999999999768	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.23	5.23	0.72570	9.917000	0.98722	11.672000	0.94114	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.170	0.93561	918	0.19598	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	563.98	33	chr4	82863371	.	G	A	563.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.23;DP=776;ExcessHet=0.0000;FS=1.986;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.05;ReadPosRankSum=0.590;SOR=1.051	GT:AD:DP:GQ:PL	0/1:53,27:80:99:578,0,1264	20	0	1	0
chr4	87125047	87125047	A	C	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon10:c.A1370C:p.E457A	.	.	16	1504	2	0	0	2	0.000664452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.972	D	0.817	P	0.012	N	0.999	D	2.125	M	-0.2	T	-0.382	T	0.341	T	0.536	2.996	15.99	5.32	2.016	3.261	10.505	0.263	0.0290905656334	.	.	0.0002	0	0.0003	0	0.0002	0.0003	0	0	0.0001035	16	154602	rs200278451	0.0001	0.0001	0.0001	0.0001	0.0041	0.0001	0.0001	0.0028	0.0023	0.0002	0.0004	0.0004	0	1.886e-05	0.0041	0.0001	0.0002	1.18e-05	0.0002	0.0002	0.0002	0.0001	0.0003	0.0001	9.692e-05	0.0001	9.896e-05	4.81e-05	0	0.0003	0.0003	0	0	0.0102	0.0002	0.0005	0	0.011	0.55530	D	0.027	0.55341	D	0.972	0.57405	D	0.817	0.58928	P	0.011733	0.29422	N	0.291697	0.998858	0.45564	D	1.94	0.52218	M	-0.2	0.66113	T	-3.81	0.71997	D	0.38	0.44666	-0.3822	0.72583	T	0.341	0.70656	T	10	0.24142894	0.41320	T	0.029091	0.51659	D	0.263	0.57612	.	.	0.754003673566	0.75177	0.2391500980236004	0.23829	0.0521099391984	0.05734	0.408450305462	0.26242	T	0.572408	0.85864	D	-0.177408	0.24123	T	-0.186634	0.55905	T	0.148684471845627	0.16998	T	0.820618	0.48098	T	0.1447447	0.33211	0.141533	0.33701	0.1447447	0.33211	0.141533	0.33700	-7.739	0.60599	D	.	.	0.161	0.40730	B	.;.;.	.;.;.	3.887627	0.56547	23.7	0.99372876865250204	0.61541	0.96244	0.68199	D	AEFBI	0.189727	0.31698	N	0.550420787036767	0.70108	5.453309	0.538875354038259	0.70627	5.533094	0.998236851560776	0.36618	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	4.247000	0.58542	9.372000	0.80454	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.9224:0.0:0.0776:0.0	10.505	0.44015	758	0.50837	.;.;.	.	.	.	.	.	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	425.98	34	chr4	87125047	.	A	C	425.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=729;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=-3.660e-01;SOR=0.627	GT:AD:DP:GQ:PL	0/1:20,16:36:99:440,0,524	20	0	1	0
chr4	87615117	87615117	G	A	exonic	DSPP	.	nonsynonymous SNV	DSPP:NM_014208:exon5:c.G2455A:p.D819N,	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	.	1086	435	1	0	0	1	0.00114811	.	.	799370	not_provided|Inborn_genetic_diseases|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.37	T	0.084	B	0.003	B	.	.	1.000	N	1.385	L	-2.36	D	-0.742	T	0.458	T	0.06	-0.909	0.420	-2.22	-1.420	0.356	5.794	0.178	0.213223610074	0.0002	.	0.0004	0	0	0	0	0.0009	0	0	7.12e-05	11	154602	rs371825362	0.0002	0.0002	0.0002	0.0002	0.0037	0.0002	0.0002	0.0025	0.0021	0.0001	0.0008	0.0032	0	0	0.0037	9.395e-05	0.0004	1.264e-05	0.0004	0.0004	0.0004	0.0004	0.0015	0.0003	0.0003	0.0010	0.0008	0.0002	0	0.0015	0.0036	0.0002	0	0.0061	0.0002	0.0005	0	.	.	.	0.229	0.25210	T	0.084	0.24799	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	1.7	0.43825	L	-2.36	0.88143	D	-0.85	0.23156	N	0.05	0.02179	-0.7423	0.58334	T	0.458	0.78935	T	9	0.013437867	0.00285	T	0.213224	0.87395	D	0.178	0.44724	.	.	0.31411915649	0.31020	9.608739296773312E-4	0.00089	.	.	.	.	.	0.097175	0.39973	T	-0.383836	0.02946	T	-0.480263	0.24418	T	0.0112056434772244	0.00164	T	0.339066	0.07293	T	0.095233865	0.22408	0.047771994	0.06955	0.095233865	0.22408	0.047771994	0.06954	-4.522	0.31175	T	.	.	.	.	.	.	.	1.069395	0.14516	11.09	0.53407163892213028	0.04934	0.02924	0.07735	N	AEFGBCI	0.027941	0.02371	N	-1.61053318700251	0.01213	0.05273635	-1.75182523373402	0.00926	0.04144969	3.92953757532465E-4	0.06820	0.487112	0.14033	0	0.573888	0.26702	0	0.657636	0.52715	0	0.567339	0.31927	0	.	.	1.11	-2.22	0.06560	0.023000	0.13424	2.568000	0.33349	-0.726000	0.03757	0.000000	0.06391	0.580000	0.25617	0.000000	0.00833	0.517:0.0:0.483:0.0	5.794	0.17641	500	0.76024	.	.	.	.	.	.	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	475.98	40	chr4	87615117	.	G	A	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.483;DP=769;ExcessHet=0.0000;FS=6.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.90;ReadPosRankSum=0.394;SOR=0.556	GT:AD:DP:GQ:PL	0/1:22,18:40:99:490,0,609	20	0	1	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	0|1:25,22,0:47:99:0|1:87615730_ATAG_A:769,0,910,689,975,1673:87615730	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	0|1:25,12,0:37:99:0|1:87615730_ATAG_A:754,0,1087,490,946,1639:87615730	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	0|1:27,10,0:37:99:0|1:87615883_A_G:339,0,1104,420,1134,1554:87615883	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	0|1:25,4,0:29:93:0|1:87615883_A_G:93,0,1038,168,1050,1218:87615883	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	0|1:26,3,0:29:48:0|1:87615883_A_G:48,0,1083,126,1092,1218:87615883	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	0|1:29,3,0:32:39:0|1:87615883_A_G:39,0,1209,126,1218,1344:87615883	0	3	5	9
chr4	95185093	95185093	T	C	exonic	UNC5C	.	nonsynonymous SNV	UNC5C:NM_003728:exon13:c.A2240G:p.D747G,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.983	D	0.982	D	0.000	D	1.000	D	2.78	M	0.57	T	-0.153	T	0.391	T	0.802	4.289	22.4	5.87	2.251	6.114	16.332	0.383	0.067400837264	7.7e-05	0.000399361	0.0002	0.0002	0.0003	0	0	0.0002	0	6.063e-05	0.0001811	28	154602	rs146792764	0.0002	0.0002	0.0002	0.0002	0.0014	0.0002	0.0002	0.0007	0.0005	0.0001	0.0006	0	0	0	0.0014	0.0002	0.0006	4.639e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0003	0.0003	4.813e-05	0	0.0005	0	0	0	0.0034	0.0004	0.0009	0	0.001	0.78490	D	0.007	0.70582	D	0.983	0.60381	D	0.982	0.75477	D	0.000000	0.84330	D	0.048289	0.999996	0.58761	D	2.845	0.82663	M	0.57	0.54347	T	-5.65	0.86988	D	0.889	0.88798	-0.1526	0.78852	T	0.391	0.74517	T	10	0.27719885	0.45286	T	0.067401	0.70155	D	0.383	0.70029	.	.	0.891278910096	0.89020	0.7245738436331536	0.72401	0.57921107327	0.53804	0.736917853355	0.72519	T	0.21512	0.85897	T	-0.0997327	0.36469	T	-0.0157363	0.69309	D	0.760437190532684	0.43876	D	0.993401	0.97840	D	0.79295325	0.83458	0.75371444	0.85443	0.79295325	0.83460	0.75371444	0.85444	-11.878	0.84251	D	.	.	0.766	0.75904	P	.;.	.;.	4.349881	0.66808	25.0	0.99819055112437272	0.90238	0.97673	0.76317	D	AEFBI	0.787862	0.71752	D	0.397484161621529	0.61287	4.327566	0.393957635748178	0.61191	4.315884	0.999998490061302	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.547309	0.15389	0	0.586402	0.36253	0	.	.	5.87	5.87	0.94266	6.142000	0.71508	7.893000	0.73158	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0:0.0:0.0:1.0	16.332	0.82871	477	0.77662	UPA domain;UPA 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	0.02381	2174.98	33	chr4	95185093	.	T	C	2174.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.190e-01;DP=852;ExcessHet=0.0000;FS=5.853;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.511;SOR=0.377	GT:AD:DP:GQ:PL	0/1:86,84:170:99:2189,0,2280	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	0/1:103,45:148:99:181,0,1959	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	0/1:86,44:130:99:.:.:153,0,1308	4	0	16	1
chr4	99574939	99574939	C	G	exonic	MTTP	.	nonsynonymous SNV	MTTP:NM_000253:exon2:c.C30G:p.C10W,	Abetalipoproteinemia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	1.78	L	1.72	T	-0.404	T	0.384	T	0.896	2.841	15.46	2.23	0.102	2.084	9.148	0.482	0.184976027276	.	.	8.238e-06	9.614e-05	0	0	0	0	0	0	6.5e-06	1	154602	rs753522604	6.24e-05	0.0014	7.047e-05	5.427e-05	0.0001	5.163e-05	4.779e-05	5.688e-05	5.193e-05	0.0001	0	0	0	0	0	6.946e-05	6.693e-05	6.985e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.142496	0.999977	0.81001	D	2.455	0.71248	M	-0.22	0.66474	T	-3.08	0.91141	D	0.933	0.93841	-0.4035	0.71917	T	0.384	0.74010	T	10	0.8792747	0.87232	D	0.184976	0.85783	D	0.482	0.77206	0.698	0.83499	0.674874776785	0.67211	.	.	0.686564950529	0.60336	0.859764039516	0.91076	D	0.746103	0.93006	D	0.171064	0.71221	D	0.189473	0.82539	D	0.958944082260132	0.65404	D	0.730127	0.34567	T	0.81693834	0.85014	0.6753535	0.80938	0.81693834	0.85016	0.6753535	0.80939	-6.389	0.49424	T	.	.	0.710	0.77883	P	.;.;.	.;.;.	4.020674	0.59386	24.1	0.98889789545306861	0.47984	0.98218	0.80639	D	AEFGBHCI	0.914315	0.87751	D	0.239856040374876	0.53138	3.484213	0.193583207845389	0.49494	3.151944	0.999998888004483	0.74766	0.600919	0.35232	0	0.405561	0.06353	1	0.640751	0.46059	0	0.530356	0.10902	0	.	.	5.85	2.23	0.27189	2.277000	0.43076	1.393000	0.26132	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.6463:0.0:0.3537	9.148	0.36106	924	0.18029	.;.;.	.	.	.	.	.	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	49.22	59	chr4	99574939	.	C	G	49.22	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.695e+00;DP=1354;ExcessHet=0.1072;FS=411.604;InbreedingCoeff=-0.0542;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.27;ReadPosRankSum=1.52;SOR=8.862	GT:AD:DP:GQ:PL	0/1:59,17:76:25:25,0,1434	19	0	2	0
chr4	110618572	110618574	GTC	-	exonic	PITX2	.	nonframeshift deletion	PITX2:NM_000325:exon3:c.526_528del:p.D176del	Anterior segment dysgenesis 4, Autosomal dominant;Axenfeld-Rieger syndrome, type 1, Autosomal dominant;Ring dermoid of cornea, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1406823176	1.37e-06	1.368e-06	1.362e-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	6.576e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2347.94	36	chr4	110618571	.	TGTC	T	2347.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-02;DP=839;ExcessHet=0.0000;FS=2.306;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.52;ReadPosRankSum=1.35;SOR=0.937	GT:AD:DP:GQ:PL	0/1:72,62:134:99:2362,0,2824	20	0	1	0
chr4	112382476	112382476	A	G	exonic	ALPK1	.	nonsynonymous SNV	ALPK1:NM_001102406:exon4:c.A200G:p.Q67R	.	.	424	1084	14	0	0	14	0.00641613	.	.	698340	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.38	M	1.76	T	-0.807	T	0.135	T	0.931	4.491	24.1	5.63	2.130	8.406	15.839	0.408	.	0.0065	0.00439297	0.0053	0.0014	0.0029	0	0.0020	0.0067	0.0077	0.0076	0.0053363	825	154602	rs33943680	0.0081	0.0081	0.0082	0.0080	0.0090	0.0080	0.0079	0.0089	0.0088	0.0011	0.0034	0.0082	0	0.0020	0.0038	0.0090	0.0089	0.0086	0.0052	0.0052	0.0057	0.0047	0.0081	0.0049	0.0048	0.0076	0.0073	0.0014	0	0.0044	0.0138	0.0002	0.0019	0	0.0081	0.0024	0.0081	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999899	0.81001	D	2.215	0.62545	M	1.76	0.25996	T	-1.53	0.37178	N	0.779	0.78641	-0.8075	0.54701	T	0.135	0.44991	T	10	0.010697663	0.00237	T	.	.	.	0.408	0.72022	.	.	0.455816718377	0.45207	.	.	0.48814725497	0.47630	0.632347464561	0.57478	T	0.148086	0.48647	T	-0.0732763	0.40801	T	0.12879	0.78812	D	0.0201152932207112	0.00712	T	0.880912	0.59977	D	0.9132768	0.92602	0.7321437	0.84171	0.901852	0.91550	0.7321437	0.84172	-2.915	0.09294	T	0.8506680338392812	0.91690	0.683	0.72557	P	.;.	.;.	4.290327	0.65424	24.8	0.99840825432422586	0.92143	0.98172	0.80226	D	AEFBI	0.906729	0.85987	D	0.844450735495492	0.88791	9.712662	0.819938707806375	0.91143	10.74026	0.999998906393931	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.624306	0.44879	0	0.620846	0.47308	0	.	.	5.63	5.63	0.86108	8.399000	0.90081	9.173000	0.79043	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.839	0.78608	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	0.02381	2228.98	39	chr4	112382476	.	A	G	2228.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.487e+00;DP=958;ExcessHet=0.0000;FS=1.302;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=-9.670e-01;SOR=0.838	GT:AD:DP:GQ:PL	0/1:62,89:151:99:2243,0,1629	20	0	1	0
chr4	119519045	119519045	C	T	exonic	PDE5A	.	nonsynonymous SNV	PDE5A:NM_001083:exon14:c.G2000A:p.R667Q	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.964	D	0.383	B	0.000	D	1.000	D	-0.075	N	-1.33	T	-0.558	T	0.266	T	0.734	5.466	35	5.46	2.573	5.727	17.502	0.096	0.128632462537	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1438005042	5.519e-06	8.212e-06	8.246e-06	2.771e-06	7.266e-06	2.37e-06	1.72e-06	3.13e-06	2.26e-06	0	0	0	0	0	0	7.266e-06	0	0	2.63e-05	2.627e-05	0	5.386e-05	4.831e-05	8.15e-06	5.14e-06	8.01e-06	3e-06	4.831e-05	0	0	0	0	9.455e-05	0	1.47e-05	0	0	0.024	0.47745	D	0.029	0.55341	D	0.66	0.55854	P	0.347	0.43945	B	0.000000	0.84330	D	0.000000	1	0.81001	D	0.59	0.15444	N	-1.33	0.79854	T	-1.41	0.34795	N	0.817	0.81261	-0.5584	0.66465	T	0.266	0.63727	T	9	0.8241513	0.81603	D	0.128632	0.81059	D	0.499	0.78288	0.597	0.72739	0.868008026345	0.86672	0.6488821514255788	0.64824	1.12963522393	0.78567	0.68768876791	0.65374	T	0.217588	0.63501	T	0.174969	0.71580	D	0.0135541	0.71212	D	0.75016987323761	0.43294	D	0.976402	0.91778	D	0.6789609	0.76913	0.3792777	0.62987	0.6789609	0.76914	0.3792777	0.62987	-5.399	0.40910	T	.	.	0.300	0.56311	B	.;.;.	.;.;.	7.424385	0.96503	36	0.99949242761778856	0.99931	0.96400	0.68952	D	AEFDBI	0.779668	0.71180	D	0.308506955214112	0.56584	3.823347	0.443158200743879	0.64280	4.679463	0.999999999761809	0.74766	0.643511	0.44296	0	0.588066	0.40923	0	0.688494	0.62686	0	0.655142	0.61905	0	.	.	5.46	5.46	0.80021	5.805000	0.68809	7.531000	0.59918	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:1.0:0.0:0.0	17.502	0.87630	643	0.63827	3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase domain;3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|3'5'-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain|HD/PDEase 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	1023.98	34	chr4	119519045	.	C	T	1023.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.131e+00;DP=774;ExcessHet=0.0000;FS=4.032;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=0.348;SOR=0.351	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1038,0,1135	20	0	1	0
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0226665779072	0.0004	0.000399361	0.0001	0.0009	0	0	0	0	0	0	2.59e-05	4	154602	rs373992035	1.929e-05	2.052e-05	1.833e-05	2.028e-05	0.0005	1.321e-05	1.133e-05	0.0003	0.0002	0.0005	0.0003	0	0	0	0	9.268e-07	1.724e-05	0	0.0002	0.0002	0.0002	0.0001	0.0006	0.0001	0.0001	0.0004	0.0003	0.0006	0	0.0002	0	0	0	0	1.47e-05	0	0	.	.	.	0.224	0.25591	T	0.998	0.73220	D	0.88	0.62516	P	.	.	.	.	0.991522	0.41409	D	0.285	0.10073	N	2.32	0.16640	T	.	.	.	0.199	0.21969	.	.	.	.	.	.	.	0.05079794	0.04867	T	0.022667	0.45580	T	.	.	.	.	0.51469891142	0.51112	0.6826217229310281	0.68201	.	.	0.299932777882	0.10391	T	0.027708	0.20231	T	-0.407889	0.02053	T	-0.442953	0.28477	T	.	.	.	0.886911	0.61435	D	0.039127454	0.05343	0.10066907	0.24077	0.039127454	0.05343	0.10066907	0.24077	-5.902	0.45453	T	.	.	0.091	0.13080	B	.	.	3.358538	0.46356	22.3	0.7332315674579476	0.10286	0.91001	0.52667	D	AEFDBI	0.409572	0.48080	N	.	.	.	.	.	.	0.999999733153597	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	4.18	2.46	0.29032	3.201000	0.50761	-0.019000	0.12951	-0.285000	0.06363	0.995000	0.38783	0.000000	0.08366	0.848000	0.40082	0.0:0.8086:0.0:0.1914	8.564	0.32688	921	0.19240	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	729.72	57	chr4	134199956	.	C	T	729.72	.	AC=9;AF=0.281;AN=32;BaseQRankSum=-2.043e+00;DP=1459;ExcessHet=4.7172;FS=120.348;InbreedingCoeff=-0.3900;MLEAC=11;MLEAF=0.344;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=-2.920e-01;SOR=8.830	GT:AD:DP:GQ:PL	0/1:43,26:69:99:142,0,730	7	0	9	5
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	1/1:0,72,0:72:99:3241,217,0,3241,217,3241	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	1/1:0,72,0:72:99:3241,217,0,3241,217,3241	0	20	0	0
chr4	139889919	139889924	TGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1517del:p.Q509_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:53,0,0,0,33:86:99:0|1:139889909_T_TTGC:909,1073,3180,1073,3180,3180,1073,3180,3180,3180,0,2107,2107,2107,2008:139889909	12	0	3	0
chr4	139889910	139889924	TGCTGCTGCTGCTGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1526del:p.Q506_Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369025793	0.0004	0.0005	0.0004	0.0004	0.0082	0.0004	0.0004	0.0063	0.0057	0.0029	0.0007	3.924e-05	0.0003	1.908e-05	0.0082	0.0003	0.0008	0.0002	0.0029	0.0029	0.0033	0.0025	0.0035	0.0025	0.0024	0.0025	0.0023	0.0029	0	0.0022	0	0.0026	0	0.0233	0.0035	0.0093	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:53,0,0,0,33:86:99:0|1:139889909_T_TTGC:909,1073,3180,1073,3180,3180,1073,3180,3180,3180,0,2107,2107,2107,2008:139889909	12	0	3	0
chr4	139889922	139889924	TGC	-	exonic	MAML3	.	nonframeshift deletion	MAML3:NM_018717:exon2:c.1512_1514del:p.Q510del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:53,0,0,0,33:86:99:0|1:139889909_T_TTGC:909,1073,3180,1073,3180,3180,1073,3180,3180,3180,0,2107,2107,2107,2008:139889909	12	0	3	0
chr4	139889924	139889924	-	TGC	exonic	MAML3	.	nonframeshift insertion	MAML3:NM_018717:exon2:c.1511_1512insGCA:p.Q510_H511insQ,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	10519.75	95	chr4	139889909	.	TTGCTGCTGCTGCTGC	TTGCTGCTGC,T,TTGCTGCTGCTGC,TTGCTGCTGCTGCTGCTGC	10519.75	.	AC=3,2,3,1;AF=0.071,0.048,0.071,0.024;AN=42;BaseQRankSum=-8.600e-02;DP=2737;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=3,2,3,1;MLEAF=0.071,0.048,0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=1.23;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|4:53,0,0,0,33:86:99:0|1:139889909_T_TTGC:909,1073,3180,1073,3180,3180,1073,3180,3180,3180,0,2107,2107,2107,2008:139889909	12	0	3	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	0/1:51,44:95:99:.:.:702,0,1494	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	0/1:51,36:92:99:.:.:636,0,1515	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	1/1:0,143,0:143:99:.:.:4946,430,0,4946,430,4946	0	20	0	0
chr4	143697978	143697978	C	T	exonic	FREM3	.	nonsynonymous SNV	FREM3:NM_001168235:exon1:c.G2698A:p.V900I,	.	.	.	.	.	.	.	.	.	.	.	3250984	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.71	T	.	.	.	.	0.006	N	0.593	D	-0.035	N	1.39	T	-1.008	T	0.034	T	0.061	-0.004	3.992	1.36	0.038	-0.417	5.280	0.048	0.00772691413677	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287081786	2.887e-06	2.736e-06	1.425e-06	4.389e-06	0.0002	6.8e-07	4.6e-07	.	.	0	0	0	0	0	0.0002	9.268e-07	3.447e-05	0	6.568e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.515	0.07378	T	0.853	0.03477	T	.	.	.	.	.	.	0.005813	0.32491	N	0.246709	0.593175	0.32474	D	0.835	0.21042	L	1.39	0.33842	T	0.08	0.06026	N	0.031	0.00770	-1.0077	0.27634	T	0.034	0.14552	T	8	0.04080358	0.02679	T	0.007727	0.20510	T	0.048	0.13305	0.307	0.27806	0.0846915920261	0.08053	0.11635838323979175	0.11563	.	.	0.30161690712	0.10642	T	0.006424	0.05852	T	-0.344682	0.05070	T	-0.732888	0.04198	T	0.0291537570446211	0.01861	T	0.459554	0.13284	T	0.0207166	0.00640	0.022792123	0.00298	0.0207166	0.00640	0.022792123	0.00298	-3.497	0.16389	T	.	.	0.065	0.02012	B	.	.	0.415810	0.07864	4.565	0.78431631740621077	0.12298	0.08363	0.14302	N	AEFDBI	0.087093	0.17658	N	-0.545540321114246	0.20623	1.088568	-0.521491103802175	0.21570	1.167491	0.128573954751829	0.17043	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.33	1.36	0.21139	-0.517000	0.06360	-3.363000	0.02844	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.993000	0.69303	0.0:0.4827:0.3077:0.2096	5.280	0.14982	810	0.42761	.	.	.	.	.	.	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	2778.98	65	chr4	143697978	.	C	T	2778.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.681e+00;DP=1452;ExcessHet=0.0000;FS=1.179;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.79;ReadPosRankSum=-5.530e-01;SOR=0.587	GT:AD:DP:GQ:PL	0/1:79,97:176:99:2793,0,2178	20	0	1	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	1/2:0,29,11,0,0:40:99:1673,471,373,1125,0,1166,1640,471,1172,1668,1640,471,1172,1668,1668	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	1/2:0,29,11,0,0:40:99:1673,471,373,1125,0,1166,1640,471,1172,1668,1640,471,1172,1668,1668	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	1/2:0,29,11,0,0:40:99:1673,471,373,1125,0,1166,1640,471,1172,1668,1640,471,1172,1668,1668	0	10	4	0
chr4	152770376	152770376	C	T	exonic	TIGD4	.	nonsynonymous SNV	TIGD4:NM_145720:exon2:c.G629A:p.C210Y,	.	.	426	1076	19	1	0	21	0.00966406	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.0	B	0.002	B	0.005	N	0.732	D	0.895	L	1.01	T	-1.004	T	0.072	T	0.193	1.326	10.35	2.91	0.815	1.291	9.793	0.074	0.00454715539605	0.0007	0.000599042	0.0010	0.0002	0.0004	0	0	0.0007	0.0033	0.0042	0.0009056	140	154602	rs139871778	0.0009	0.0009	0.0006	0.0011	0.0055	0.0008	0.0008	0.0051	0.0049	0.0003	0.0003	0	0	0	0.0050	0.0006	0.0008	0.0055	0.0005	0.0005	0.0005	0.0006	0.0035	0.0004	0.0004	0.0022	0.0018	7.213e-05	0	0.0003	0	0	0	0.0034	0.0008	0.0009	0.0035	0.052	0.39097	T	0.7	0.05727	T	0.0	0.02946	B	0.002	0.06944	B	0.004761	0.33426	N	0.140441	0.732273	0.33732	D	1.15	0.29295	L	1.01	0.41058	T	-1.29	0.32387	N	0.122	0.11340	-1.0045	0.28607	T	0.072	0.29387	T	10	0.0074849427	0.00170	T	0.004547	0.11220	T	0.074	0.21613	.	.	0.17258766438	0.16869	0.521447656311776	0.52067	0.0239299429718	0.02427	0.58555328846	0.50868	T	0.013863	0.11911	T	-0.529666	0.00386	T	-0.532927	0.18995	T	0.0165530710946136	0.00417	T	0.668933	0.27772	T	0.22484085	0.45133	0.27387723	0.53311	0.22484085	0.45133	0.27387723	0.53310	-4.999	0.36829	T	.	.	0.244	0.47816	B	.	.	3.009436	0.40238	21.1	0.95841116343085175	0.27965	0.56844	0.30222	D	AEFBI	0.109532	0.21752	N	-0.271591532776732	0.30250	1.684948	-0.106650180999005	0.35120	2.028177	0.999944710502599	0.47345	0.553676	0.25195	0	0.588015	0.36545	0	0.514364	0.09456	0	0.564101	0.26826	0	.	.	5.7	2.91	0.32903	1.622000	0.36608	2.138000	0.30825	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.999000	0.91618	0.0:0.7699:0.0:0.2301	9.793	0.39887	810	0.42761	.	.	.	.	.	.	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	4649.11	41	chr4	152770376	.	C	T	4649.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.448e+00;DP=1107;ExcessHet=0.1072;FS=3.130;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.22;ReadPosRankSum=0.394;SOR=0.882	GT:AD:DP:GQ:PL	0/1:68,82:150:99:2102,0,1898	19	0	2	0
chr4	174259787	174259787	T	C	exonic	FBXO8	.	nonsynonymous SNV	FBXO8:NM_012180:exon3:c.A368G:p.N123S,	.	.	441	1040	41	0	0	41	0.0193305	.	.	709238	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.69	T	0.044	B	0.018	B	0.000	D	1.000	D	1.445	L	0.62	T	-1.023	T	0.082	T	0.175	2.796	15.31	5.3	2.140	5.384	15.552	0.067	.	0.0031	0.00399361	0.0048	0.0006	0.0030	0.0002	0.0012	0.0051	0.0099	0.0115	0.0046248	715	154602	rs61748174	0.0046	0.0046	0.0043	0.0049	0.0252	0.0045	0.0045	0.0219	0.0206	0.0011	0.0026	0.0128	2.525e-05	0.0010	0.0252	0.0041	0.0055	0.0126	0.0035	0.0035	0.0036	0.0033	0.0118	0.0032	0.0031	0.0094	0.0085	0.0010	0	0.0023	0.0124	0.0004	0.0009	0.0068	0.0048	0.0057	0.0118	0.176	0.22312	T	0.825	0.09425	T	0.044	0.21686	B	0.011	0.15521	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	1.355	0.33814	L	0.62	0.53302	T	0.44	0.14000	N	0.333	0.37405	-1.0227	0.22834	T	0.082	0.32178	T	10	0.00788039	0.00179	T	.	.	.	0.067	0.19503	.	.	0.597428956802	0.59422	0.5794341773884957	0.57872	0.47075830879	0.46345	0.559513449669	0.47200	T	0.056233	0.30230	T	-0.466853	0.00890	T	-0.433983	0.29485	T	0.0275765039054513	0.01626	T	0.887111	0.61484	D	0.22652934	0.45335	0.11510894	0.27788	0.22652934	0.45335	0.11510894	0.27787	-2.551	0.08711	T	.	.	0.076	0.15966	B	.;.;.;.	.;.;.;.	2.360029	0.30268	18.38	0.99134769933955058	0.53356	0.91582	0.53830	D	AEFDGBHCI	0.645724	0.62152	D	-0.0812770085505523	0.38214	2.234735	0.108946617168113	0.45004	2.771491	0.999999999999955	0.74766	0.743674	0.98306	0	0.724815	0.89359	0	0.618467	0.43123	0	0.584449	0.35598	0	.	.	5.3	5.3	0.74745	5.347000	0.65768	5.095000	0.47387	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.552	0.75899	637	0.64373	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1397.11	35	chr4	174259787	.	T	C	1397.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.276;DP=786;ExcessHet=0.1072;FS=2.255;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.09;ReadPosRankSum=0.901;SOR=0.914	GT:AD:DP:GQ:PL	0/1:33,26:59:99:605,0,829	19	0	2	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V,	Lymphedema, hereditary, ID, Autosomal dominant	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	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|1:58,12:70:8:0|1:176711629_G_C:8,0,2146:176711629	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|1:58,12:70:8:0|1:176711629_G_C:8,0,2146:176711629	6	0	11	4
chr5	434466	434466	C	G	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1726G:p.P576A	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.972	D	0.612	P	0.008	N	1.000	N	0.975	L	2.0	T	-1.079	T	0.047	T	0.146	2.216	13.37	3.77	1.069	0.718	7.627	0.054	0.0108327159803	0.0011	0.000399361	0.0010	0.0001	0.0003	0	0	0.0013	0.0035	0.0013	0.0008538	132	154602	rs200762873	0.0010	0.0010	0.0010	0.0011	0.0021	0.0010	0.0010	0.0012	0.0011	0.0001	0.0006	0	2.519e-05	0	0.0021	0.0012	0.0011	0.0010	0.0008	0.0008	0.0009	0.0007	0.0013	0.0007	0.0006	0.0011	0.0010	0.0002	0	0.0007	0	0.0002	0	0.0068	0.0013	0.0014	0.0008	0.31	0.19361	T	1.0	0.01155	T	0.952	0.57405	P	0.612	0.51145	P	0.007839	0.31171	N	0.305062	0.962396	0.26068	N	1.495	0.37439	L	1.99	0.27032	T	-1.79	0.47008	N	0.43	0.46928	-1.0785	0.07641	T	0.047	0.19958	T	10	0.014721662	0.00309	T	0.010833	0.27810	T	0.054	0.15330	.	.	0.655203476522	0.65232	0.16223611633913132	0.16143	0.308626499717	0.33177	0.314988851547	0.12661	T	0.078795	0.35977	T	-0.533377	0.00367	T	-0.563563	0.16044	T	0.019222533734538	0.00628	T	0.768323	0.39714	T	0.08676331	0.20179	0.06434267	0.12881	0.08676331	0.20178	0.06434267	0.12881	-5.491	0.42792	T	.	.	0.074	0.19760	B	.;.;.;.	.;.;.;.	2.300862	0.29439	18.12	0.99337809931630383	0.60051	0.46747	0.27828	N	AEFDGBCI	0.086726	0.17585	N	-0.265430544617488	0.30491	1.700728	-0.256381256520332	0.29551	1.656577	0.9999988038402	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.655142	0.61905	0	.	.	4.64	3.77	0.42499	1.077000	0.30353	2.035000	0.30272	0.599000	0.40250	0.657000	0.28234	0.974000	0.29927	0.426000	0.27362	0.0:0.8033:0.0:0.1966	7.627	0.27383	851	0.35303	.;.;.;.	.	.	.	.	.	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	1559.98	51	chr5	434466	.	C	G	1559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.306;DP=1104;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.33;ReadPosRankSum=-3.000e-02;SOR=0.665	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1574,0,1629	20	0	1	0
chr5	2749704	2749704	C	G	exonic	IRX2	.	nonsynonymous SNV	IRX2:NM_001134222:exon2:c.G333C:p.Q111H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.997	D	0.95	D	0.000	D	1.000	D	1.995	M	-0.22	T	-0.338	T	0.384	T	0.657	2.454	14.17	3.95	0.974	0.841	8.775	0.282	0.0439001546422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.038	0.51421	D	0.997	0.70673	D	0.95	0.68788	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.2	0.62015	M	-0.3	0.67874	T	-2.99	0.62151	D	0.826	0.95374	-0.3383	0.73893	T	0.384	0.74010	T	10	0.7670542	0.76786	D	0.044	0.61216	D	0.282	0.59981	0.348	0.34436	0.789219341485	0.78727	0.8151916020486122	0.81475	2.56847412068	0.98003	0.801670312881	0.82218	T	0.437744	0.78365	T	0.0917855	0.63389	D	-0.105933	0.62934	T	0.975854218006134	0.71118	D	0.868913	0.57225	D	0.413645	0.61666	0.23726499	0.49019	0.413645	0.61667	0.23726499	0.49018	-10.999	0.79653	D	.	.	0.504	0.64835	A	.;.	.;.	4.016829	0.59304	24.1	0.99405502220932718	0.63028	0.78751	0.38901	D	ALL	0.483247	0.52377	N	0.43701717578164	0.63470	4.581412	0.380756334460075	0.60380	4.22482	0.999999487030143	0.74766	0.733237	0.96898	0	0.573888	0.26702	0	0.600757	0.32118	0	0.63947	0.58350	0	.	.	4.85	3.95	0.44952	0.886000	0.27878	1.396000	0.26156	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8206:0.0:0.1794	8.775	0.33912	946	0.12043	.;.	.	.	.	.	.	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	1921.98	34	chr5	2749704	.	C	G	1921.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.540e-01;DP=920;ExcessHet=0.0000;FS=5.847;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.39;ReadPosRankSum=-9.350e-01;SOR=1.123	GT:AD:DP:GQ:PL	0/1:113,72:185:99:1936,0,3096	20	0	1	0
chr5	13917246	13917246	T	C	exonic	DNAH5	.	nonsynonymous SNV	DNAH5:NM_001369:exon8:c.A986G:p.E329G,	Ciliary dyskinesia, primary, 3, with or without situs inversus	YES	0	1521	1	0	0	1	0.000328623	.	.	1828850	not_provided|Primary_ciliary_dyskinesia	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.003	B	0.03	B	0.046	N	0.677	D	2.545	M	0.45	T	-0.678	T	0.179	T	0.26	1.831	12.08	5.54	2.107	2.187	7.796	0.205	0.0642683957276	.	.	4.974e-05	0	0	0	0	9.046e-05	0	0	3.88e-05	6	154602	rs483353127	1.574e-05	1.573e-05	1.362e-05	1.788e-05	0.0026	1.048e-05	8.76e-06	0.0016	0.0013	0	4.472e-05	3.827e-05	0	0	0.0026	0	8.283e-05	0	2.629e-05	2.627e-05	1.285e-05	4.036e-05	0.0002	8.14e-06	5.14e-06	5.291e-05	2.837e-05	0	0	0.0002	0	0	0	0	1.47e-05	0	0	0.113	0.28772	T	.	.	.	0.003	0.11197	B	0.03	0.21741	B	0.046493	0.23434	N	0.469068	0.676849	0.33196	D	3.3	0.90472	M	0.45	0.56446	T	-5.13	0.83224	D	0.455	0.49237	-0.6779	0.61469	T	0.179	0.52504	T	10	0.44156352	0.58133	T	0.064268	0.69226	D	0.205	0.49236	0.561	0.68093	0.685124276654	0.68243	0.4798316727898653	0.47903	0.386324511951	0.39923	0.292774915695	0.09328	T	0.504224	0.82340	D	-0.218958	0.18134	T	-0.376448	0.36137	T	0.308433926030992	0.25350	T	0.838616	0.51177	T	0.21079993	0.43386	0.4376821	0.67179	0.21079993	0.43386	0.4376821	0.67179	-8.005	0.61105	D	0.2454908806116993	0.33249	0.093	0.14201	B	.	.	2.899917	0.38433	20.7	0.99470775478835638	0.66312	0.97340	0.74132	D	AEFDIJ	0.457864	0.50913	N	-0.0220795721846033	0.40858	2.43365	0.0843888682915284	0.43763	2.671408	0.997568617948589	0.35763	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.620846	0.47308	0	.	.	5.54	5.54	0.82907	2.182000	0.42186	6.184000	0.54674	0.665000	0.62972	0.985000	0.35982	1.000000	0.68203	0.038000	0.14061	0.1288:0.0:0.151:0.7202	7.796	0.28312	733	0.53988	Dynein heavy chain, domain-1	.	.	.	.	.	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	1507.98	34	chr5	13917246	.	T	C	1507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.790e-01;DP=826;ExcessHet=0.0000;FS=2.442;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.26;ReadPosRankSum=0.412;SOR=0.474	GT:AD:DP:GQ:PL	0/1:68,55:123:99:1522,0,1849	20	0	1	0
chr5	14741832	14741832	G	A	exonic	ANKH	.	nonsynonymous SNV	ANKH:NM_054027:exon8:c.C1006T:p.L336F,	Chondrocalcinosis 2, Autosomal dominant;Craniometaphyseal dysplasia, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1471871	Inborn_genetic_diseases|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.16	T	0.029	B	0.022	B	0.000	D	1.000	D	1.525	L	-3.99	D	0.305	D	0.768	D	0.579	3.680	18.70	4.33	2.526	1.823	7.289	0.566	0.137256698389	.	.	7.477e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs762016447	2.191e-05	2.189e-05	2.317e-05	2.064e-05	0.0031	1.586e-05	1.357e-05	0.0020	0.0017	0	0.0001	3.827e-05	0	0	0.0031	4.501e-06	4.97e-05	0	5.258e-05	5.253e-05	6.427e-05	4.035e-05	0.0003	2.558e-05	1.831e-05	8.88e-05	5.388e-05	0	0	0.0003	0	0	0	0	5.88e-05	0	0	0.146	0.25055	T	0.017	0.60337	D	0.029	0.19866	B	0.022	0.19653	B	0.000021	0.55875	D	0.070231	0.999995	0.58761	D	0.695	0.17993	N	-3.99	0.96308	D	-1.26	0.31778	N	0.307	0.34659	0.305	0.87632	D	0.768	0.92094	D	10	0.26463753	0.43952	T	0.137257	0.81974	D	0.566	0.82289	.	.	0.917837007993	0.91701	0.8456879847696765	0.84529	0.964527887201	0.73131	0.810363471508	0.83548	D	0.596001	0.86982	D	0.00826967	0.52790	T	-0.000195872	0.70323	D	0.105439379811287	0.12945	T	0.886611	0.61335	D	0.08640544	0.20082	0.08930949	0.20877	0.08640544	0.20082	0.08930949	0.20876	-3.759	0.20194	T	0.09333357031326674	0.06128	0.133	0.28807	B	.	.	2.732860	0.35776	19.99	0.99846565644867302	0.92663	0.80034	0.39782	D	AEFDGBI	0.177490	0.30474	N	-0.116048989075874	0.36693	2.12444	0.0204100021419068	0.40664	2.430431	0.999998648420105	0.74766	0.706298	0.61202	0	0.708844	0.79440	0	0.459711	0.06710	0	0.613276	0.41899	0	.	.	5.39	4.33	0.51083	1.866000	0.39127	4.740000	0.44601	0.676000	0.76740	0.963000	0.33788	1.000000	0.68203	0.908000	0.44358	0.2252:0.0:0.7747:0.0	7.289	0.25530	883	0.28872	.	.	.	.	.	.	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	1006.98	33	chr5	14741832	.	G	A	1006.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.580e-01;DP=797;ExcessHet=0.0000;FS=0.861;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.71;ReadPosRankSum=-2.250e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:45,41:86:99:1021,0,1248	20	0	1	0
chr5	37120282	37120282	A	T	exonic	CPLANE1	.	nonsynonymous SNV	CPLANE1:NM_023073:exon49:c.T9082A:p.S3028T	.	.	0	1521	1	0	0	1	0.000328623	.	.	1657961	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.04	D	0.664	P	0.131	B	0.717	N	1.000	N	2.075	M	0.83	T	-1.006	T	0.093	T	0.094	2.387	13.94	-1.99	-0.276	0.123	3.192	0.051	0.0108716918207	.	0.00139776	0.0005	0	0	0	0	0	0	0.0039	0.0004722	73	154602	rs545791930	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0002	0.0031	0.0030	0	2.408e-05	0	0	0	0	0	0.0003	0.0035	0.0001	0.0001	0.0001	0.0002	0.0043	9.735e-05	8.251e-05	0.0029	0.0024	0	0	0	0	0	0	0	0	0.0005	0.0043	0.018	0.53172	D	0.067	0.44302	T	.	.	.	.	.	.	0.716876	0.09968	N	0.859817	1	0.08975	N	.	.	.	0.83	0.47815	T	-1.06	0.31170	N	0.17	0.18103	-1.0056	0.28277	T	0.093	0.35498	T	10	0.0061656535	0.00139	T	0.010872	0.27894	T	0.051	0.14325	.	.	0.314417295294	0.31040	0.27357749138738846	0.27270	0.111390099725	0.12571	.	.	.	0.014212	0.17609	T	-0.576666	0.00202	T	-0.603538	0.12516	T	0.0254323790180098	0.01330	T	0.222078	0.02867	T	0.09497794	0.22342	0.049800336	0.07685	0.09497794	0.22342	0.049800336	0.07685	-3.869	0.21839	T	0.2638972943447867	0.35596	0.095	0.15115	B	.;.;.	.;.;.	0.697193	0.10657	7.357	0.62999096245703545	0.07108	0.03923	0.09312	N	AEFBCI	0.035491	0.04577	N	-0.927111906876468	0.10211	0.486894	-1.05628892616923	0.08576	0.4223316	0.98064689851648	0.30160	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.21	-1.99	0.07047	0.195000	0.16960	-0.053000	0.12521	-0.050000	0.17177	0.003000	0.16062	0.000000	0.08366	0.002000	0.04165	0.4314:0.0:0.2601:0.3084	3.192	0.06226	146	0.94180	.;.;.	.	.	.	.	.	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	951.98	34	chr5	37120282	.	A	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.010e+00;DP=800;ExcessHet=0.0000;FS=1.675;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=0.960;SOR=0.603	GT:AD:DP:GQ:PL	0/1:50,43:93:99:966,0,1245	20	0	1	0
chr5	38918993	38918993	G	A	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon11:c.G1516A:p.V506I	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	.	0	1519	3	0	0	3	0.000986518	.	.	735103	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.29	T	0.64	P	0.033	B	0.086	N	1.000	N	1.185	L	-0.02	T	-1.016	T	0.103	T	0.194	0.623	7.351	-1.28	-0.209	-0.352	8.750	0.083	0.0174722814501	0.0015	0.000998403	0.0015	0.0009	0.0004	0.0001	0	0.0013	0.0055	0.0041	0.0013519	209	154602	rs147042111	0.0019	0.0019	0.0018	0.0019	0.0048	0.0018	0.0018	0.0044	0.0043	0.0004	0.0003	7.653e-05	5.038e-05	0.0001	0.0014	0.0019	0.0020	0.0048	0.0012	0.0012	0.0014	0.0011	0.0040	0.0011	0.0010	0.0026	0.0022	0.0006	0	0.0007	0	0.0004	0	0.0068	0.0019	0.0009	0.0040	0.427	0.18371	T	0.621	0.41074	T	0.64	0.40395	P	0.033	0.22329	B	0.086384	0.20590	N	0.516722	1	0.08975	N	1.15	0.29295	L	-0.02	0.62918	T	-0.47	0.15178	N	0.205	0.22742	-1.0163	0.24916	T	0.103	0.37994	T	10	0.0042425394	0.00085	T	0.017472	0.39181	T	0.083	0.24192	.	.	0.144782658237	0.14088	0.21885969059294852	0.21801	0.0823980233098	0.09297	0.309908300638	0.11894	T	0.119857	0.44168	T	-0.518608	0.00448	T	-0.51663	0.20636	T	0.00201253571662779	0.00021	T	0.580242	0.21938	T	0.022232696	0.00872	0.021530759	0.00202	0.022232696	0.00872	0.021530759	0.00202	-4.081	0.25009	T	0.11689148382822652	0.10618	0.075	0.11366	B	.;.	.;.	0.000160	0.04284	1.072	0.63398414196313269	0.07213	0.03030	0.07914	N	AEFBI	0.050437	0.08815	N	-0.993391616751877	0.08745	0.4111739	-1.10397046464138	0.07624	0.371582	0.700232167030638	0.22690	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.82	-1.28	0.08834	-0.176000	0.09802	-1.258000	0.05887	-0.822000	0.02949	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.5759:0.0:0.4241:0.0	8.750	0.33769	662	0.61715	Fibronectin type III|Fibronectin type III|Fibronectin type III;Fibronectin type III|Fibronectin type III	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2002.98	33	chr5	38918993	.	G	A	2002.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.15;DP=876;ExcessHet=0.0000;FS=9.420;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.99;ReadPosRankSum=-2.310e-01;SOR=0.308	GT:AD:DP:GQ:PL	0/1:89,78:167:99:2017,0,2294	20	0	1	0
chr5	42711274	42711274	G	A	exonic	GHR	.	nonsynonymous SNV	GHR:NM_001242460:exon5:c.G620A:p.R207H	Growth hormone insensitivity, partial;Increased responsiveness to growth hormone (3);Laron dwarfism, Autosomal recessive	.	1	1499	22	0	0	22	0.00728477	.	.	265893	Laron-type_isolated_somatotropin_defect|not_specified|Short_stature_due_to_partial_GHR_deficiency|not_provided	MONDO:MONDO:0009877,MedGen:C0271568,OMIM:262500,Orphanet:633|MedGen:CN169374|MONDO:MONDO:0011420,MedGen:C1858656,OMIM:604271,Orphanet:314802,Orphanet:314811|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.21	T	0.999	D	0.703	P	0.000	D	1.000	D	1.845	L	-3.02	D	0.668	D	0.814	D	0.9	5.075	31	5.21	2.405	4.538	18.767	0.808	0.0891640989754	0.0011	0.000798722	0.0013	0.0007	0.0013	0	0	0.0011	0.0022	0.0038	0.0011966	185	154602	rs6177	0.0008	0.0009	0.0007	0.0010	0.0080	0.0008	0.0008	0.0062	0.0055	0.0009	0.0014	0.0015	0	0	0.0080	0.0006	0.0016	0.0035	0.0008	0.0008	0.0007	0.0009	0.0017	0.0007	0.0006	0.0008	0.0006	0.0006	0.0011	0.0010	0.0023	0	9.427e-05	0.0102	0.0008	0.0024	0.0017	0.0	0.91255	D	0.318	0.76473	T	0.999	0.77913	D	0.703	0.54270	P	0.000004	0.62929	D	0.059628	1	0.81001	D	1.8	0.47472	L	-3.4	0.94260	D	-2.04	0.46842	N	0.533	0.63883	0.668	0.92766	D	0.814	0.93719	D	10	0.017771393	0.00381	T	0.089164	0.75273	D	0.808	0.93777	.	.	0.962138920921	0.96173	0.5664631436302645	0.56574	0.0555361329645	0.06140	0.433992952108	0.29755	T	0.410939	0.76553	T	0.124364	0.66809	D	0.404074	0.92243	D	0.0636626687296192	0.07732	T	0.977402	0.93081	D	0.6612151	0.75964	0.4502998	0.68010	0.6490725	0.75316	0.49604318	0.70857	-10.171	0.74929	D	0.5075309644939106	0.58176	0.183	0.48551	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.881359	0.80062	27.2	0.99934152013492705	0.99535	0.94192	0.60392	D	AEFI	0.757768	0.69662	D	0.565633455196316	0.71040	5.590686	0.577758325565778	0.73350	5.955826	0.999580486071164	0.40607	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.21	5.21	0.72005	4.957000	0.63358	7.492000	0.59381	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	0.91844	496	0.76301	Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III;.;Fibronectin type III|Long hematopoietin receptor, single chain, conserved site|Fibronectin type III|Fibronectin type III	.	.	.	.	.	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	1435.98	41	chr5	42711274	.	G	A	1435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.00;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.71;ReadPosRankSum=-8.440e-01;SOR=0.728	GT:AD:DP:GQ:PL	0/1:56,57:113:99:1450,0,1256	20	0	1	0
chr5	52945020	52945020	C	A	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon27:c.C3363A:p.S1121R,	.	.	444	1057	20	1	0	22	0.0102996	.	.	721474	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.41	T	0.136	B	0.017	B	0.042	N	0.860	N	0.64	N	0.79	T	-1.103	T	0.039	T	0.202	2.011	12.68	0.424	0.381	-0.592	0.543	0.064	.	0.0057	0.00539137	0.0072	0.0012	0.0019	0.0019	0.0127	0.0084	0.0121	0.0102	0.0072056	1114	154602	rs151102756	0.0082	0.0082	0.0080	0.0083	0.0098	0.0080	0.0080	0.0092	0.0090	0.0013	0.0020	0.0023	0.0008	0.0120	0.0052	0.0088	0.0062	0.0098	0.0058	0.0058	0.0057	0.0059	0.0102	0.0055	0.0054	0.0083	0.0081	0.0018	0	0.0012	0.0020	0.0012	0.0108	0	0.0089	0.0038	0.0102	0.208	0.19782	T	0.045	0.49390	D	0.136	0.27347	B	0.017	0.18140	B	0.041512	0.23942	N	0.515513	0.859682	0.28374	N	1.1	0.28011	L	0.79	0.49068	T	-0.81	0.22294	N	0.22	0.24634	-1.1030	0.03747	T	0.039	0.16634	T	10	0.005416006	0.00119	T	.	.	.	0.064	0.18567	0.354	0.35408	0.498259528926	0.49460	0.44795778726247065	0.44713	0.184186325535	0.20715	0.357897281647	0.19079	T	0.054622	0.29777	T	-0.545348	0.00311	T	-0.54817	0.17501	T	0.0266211991136167	0.01491	T	0.652235	0.26282	T	0.07397097	0.16567	0.05098772	0.08114	0.07397097	0.16567	0.05098772	0.08113	-4.82	0.34823	T	.	.	0.217	0.44745	B	.	.	2.001094	0.25425	16.76	0.98561422426639278	0.42986	0.18904	0.20449	N	AEFDBI	0.104861	0.20969	N	-0.54948648376452	0.20500	1.081116	-0.432061412372852	0.24062	1.315583	0.999592032345798	0.40745	0.615465	0.37627	0	0.541556	0.11502	0	0.658983	0.55881	0	0.404113	0.06833	1	.	.	5.63	0.424	0.15684	-0.165000	0.09957	0.386000	0.17834	0.599000	0.40250	0.945000	0.32849	0.993000	0.31925	0.997000	0.79791	0.2824:0.337:0.1371:0.2434	0.543	0.00605	713	0.56348	.	.	.	.	.	.	Likely benign	0	0	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	2815.11	35	chr5	52945020	.	C	A	2815.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.851;DP=892;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.85;ReadPosRankSum=1.98;SOR=0.729	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1130,0,1195	19	0	2	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	0/1:6,15,0:21:99:.:.:611,0,207,630,252,882	11	1	6	0
chr5	66054589	66054589	C	T	exonic	ERBIN	.	nonsynonymous SNV	ERBIN:NM_001006600:exon21:c.C3271T:p.P1091S	.	.	.	.	.	.	.	.	.	.	.	1591976	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.72	T	0.001	B	0.005	B	0.001	N	1.000	N	1.15	L	1.55	T	-1.029	T	0.043	T	0.042	-0.941	0.359	4.26	1.106	0.308	2.271	0.085	0.00336252834261	0.0024	0.00159744	0.0006	0.0070	0.0003	0	0	1.499e-05	0	0	0.0005692	88	154602	rs114722905	0.0003	0.0003	0.0003	0.0002	0.0096	0.0002	0.0002	0.0088	0.0084	0.0096	0.0004	0	0	0	0.0007	1.169e-05	0.0006	2.319e-05	0.0021	0.0021	0.0023	0.0019	0.0073	0.0019	0.0018	0.0067	0.0064	0.0073	0	0.0005	0	0	0	0	1.47e-05	0.0024	0.0002	0.149	0.24758	T	0.482	0.11829	T	0.0	0.07471	B	0.002	0.11217	B	0.000607	0.42945	N	0.198335	1	0.08975	N	.	.	.	1.37	0.38883	T	-0.98	0.37375	N	0.032	0.01421	-1.0293	0.20681	T	0.043	0.18451	T	10	0.0030222237	0.00049	T	0.003363	0.07512	T	0.085	0.24743	.	.	0.043077524339	0.03247	0.2209320384851939	0.22008	0.0675188452002	0.07548	0.294842779636	0.09635	T	0.033871	0.23092	T	-0.641049	0.00082	T	-0.688893	0.06453	T	0.0028711292125237	0.00030	T	0.859914	0.55237	D	0.02406158	0.01201	0.031574674	0.01765	0.02406158	0.01201	0.031574674	0.01765	-3.621	0.21794	T	.	.	0.072	0.05404	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.368487	0.17782	13.37	0.87441522226286938	0.17230	0.15503	0.18944	N	AEFBI	0.125004	0.24132	N	-0.650430985998648	0.17448	0.8979047	-0.557037548282226	0.20619	1.11173	0.891749703756379	0.25867	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	4.26	0.49832	0.327000	0.19408	2.013000	0.30174	0.599000	0.40250	0.129000	0.23328	0.009000	0.19889	0.540000	0.29938	0.1398:0.4307:0.2623:0.1671	2.271	0.03840	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	0.02381	2290.98	40	chr5	66054589	.	C	T	2290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=989;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.49;ReadPosRankSum=-1.391e+00;SOR=0.657	GT:AD:DP:GQ:PL	0/1:53,78:131:99:2305,0,1455	20	0	1	0
chr5	71109300	71109300	C	T	exonic	NAIP	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482181409	0.0008	0.0007	0.0009	0.0007	0.0201	0.0007	0.0007	0.0187	0.0182	0.0201	0.0009	0	0	0	0.0003	1.211e-05	0.0016	0.0002	0.0062	0.0056	0.0066	0.0058	0.0169	0.0058	0.0056	0.0158	0.0153	0.0169	0	0.0017	0	0	0	0	4.961e-05	0.0045	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	0.02381	809.98	20	chr5	71109300	.	C	T	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.184e+00;DP=750;ExcessHet=0.0000;FS=1.127;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=29.98;MQRankSum=-4.820e-01;QD=13.28;ReadPosRankSum=-2.180e-01;SOR=0.521	GT:AD:DP:GQ:PL	0/1:27,34:61:99:824,0,628	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	0/1:58,23:81:99:257,0,1207	11	0	10	0
chr5	79743891	79743891	G	T	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon3:c.G10703T:p.S3568I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.946	D	0.002	N	0.990	D	2.505	M	1.67	T	-0.632	T	0.207	T	0.901	3.967	20.3	4.69	2.611	2.206	17.547	0.269	0.132518961488	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1440941566	7.173e-06	1.026e-05	1.416e-06	1.308e-05	0.0002	3.63e-06	2.65e-06	9.46e-06	3.54e-06	0	5.712e-05	0	0	0	0.0002	4.649e-06	1.727e-05	1.291e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-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	0.001	0.78490	D	0.004	0.74150	D	0.999	0.77913	D	0.946	0.68276	D	0.001819	0.37945	N	0.121467	0.990344	0.41139	D	1.83	0.48079	L	1.67	0.27331	T	-4.48	0.77965	D	0.771	0.76853	-0.6321	0.63481	T	0.207	0.56635	T	10	0.78530085	0.78195	D	0.132519	0.81485	D	0.269	0.58381	0.404	0.43573	0.51058355623	0.50700	0.43347762715050886	0.43264	0.373452143324	0.38813	0.628344118595	0.56909	T	0.129052	0.45709	T	0.18974	0.72939	D	0.0347714	0.72587	D	0.958758771419525	0.65354	D	0.816218	0.47186	T	0.6771739	0.76817	0.6206137	0.77900	0.6771739	0.76819	0.6206137	0.77901	-5.759	0.44215	T	.	.	0.514	0.65212	A	.	.	4.433120	0.68763	25.3	0.99682450263347777	0.79373	0.90594	0.51900	D	AEFGBI	0.422712	0.48860	N	0.7042728394372	0.79912	7.179217	0.664975246563155	0.79731	7.144557	0.365118163619851	0.19815	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.58	4.69	0.58546	2.575000	0.45689	6.171000	0.54489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.1539:0.8461:0.0	17.547	0.87762	419	0.81524	.	.	.	.	.	.	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	1222.98	34	chr5	79743891	.	G	T	1222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.909e+00;DP=805;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.76;ReadPosRankSum=-1.528e+00;SOR=0.686	GT:AD:DP:GQ:PL	0/1:51,53:104:99:1237,0,1370	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	0/2:37,0,39,0:76:99:1399,1511,3003,0,1492,1374,1511,3003,1492,3003	7	0	1	0
chr5	84229857	84229857	G	A	exonic	EDIL3	.	nonsynonymous SNV	EDIL3:NM_005711:exon3:c.C224T:p.A75V,	.	.	433	1085	4	0	0	4	0.00183993	0.9975	0.842	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.0	B	0.0	B	0.211	N	1.000	D	-0.575	N	-3.18	D	-0.236	T	0.527	D	0.4	1.964	12.52	5.59	2.651	4.422	15.088	0.340	0.103964260077	7.7e-05	0.00119808	0.0010	0	0.0003	0	0	0.0002	0.0011	0.0062	0.0008279	128	154602	rs373427567	0.0004	0.0004	0.0002	0.0006	0.0057	0.0004	0.0004	0.0053	0.0051	5.999e-05	0.0002	0	0	0.0002	0.0012	7.323e-05	0.0005	0.0057	0.0002	0.0002	0.0001	0.0003	0.0050	0.0002	0.0001	0.0034	0.0029	2.414e-05	0	6.563e-05	0	0	0.0005	0	4.412e-05	0	0.0050	0.227	0.18498	T	0.29	0.21011	T	0.0	0.02946	B	0.0	0.01387	B	0.211475	0.16355	N	0.511500	0.999588	0.81001	D	-0.175	0.04276	N	-3.18	0.93111	D	-0.18	0.09796	N	0.477	0.51226	-0.2358	0.76735	T	0.527	0.82389	D	10	0.00824371	0.00187	T	0.103964	0.77829	D	0.340	0.66202	.	.	0.913080375384	0.91220	0.3142185820665382	0.31334	0.253741883956	0.27944	0.519153356552	0.41506	T	0.090292	0.38553	T	-0.222953	0.17593	T	-0.0911144	0.64078	T	0.0263975205994556	0.01459	T	0.383762	0.09387	T	0.25801623	0.48849	0.20345557	0.44423	0.25801623	0.48849	0.20345557	0.44422	-3.892	0.22182	T	.	.	0.082	0.08948	B	.	.	5.334451	0.89519	30	0.98769369152407549	0.45940	0.92756	0.56469	D	AEFI	0.725435	0.67442	D	-0.280947801577544	0.29884	1.661255	-0.0344761487483362	0.38169	2.244964	0.995251953071481	0.34029	0.693126	0.56070	0	0.573888	0.26702	0	0.659464	0.59346	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	4.946000	0.63276	8.471000	0.77272	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	0.0:0.0:1.0:0.0	15.088	0.71840	967	0.07127	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	982.98	33	chr5	84229857	.	G	A	982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.784e+00;DP=753;ExcessHet=0.0000;FS=1.897;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.93;ReadPosRankSum=0.965;SOR=0.479	GT:AD:DP:GQ:PL	0/1:33,43:76:99:997,0,854	20	0	1	0
chr5	88206475	88206475	G	A	exonic	TMEM161B	.	nonsynonymous SNV	TMEM161B:NM_001349405:exon5:c.C77T:p.A26V	.	.	713	803	6	0	0	6	0.00372208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.202	B	0.034	B	0.000	D	1.000	D	2.11	M	.	.	-0.795	T	0.171	T	0.793	2.697	14.98	5.51	2.596	6.983	19.422	0.165	0.0072665829932	0.0057	0.00219649	0.0051	0.0019	0.0022	0	0.0008	0.0077	0.0046	0.0051	0.0041073	635	154602	rs62369771	0.0066	0.0067	0.0066	0.0066	0.0076	0.0065	0.0064	0.0075	0.0075	0.0008	0.0024	0.0024	2.541e-05	0.0014	0.0064	0.0076	0.0063	0.0047	0.0043	0.0043	0.0046	0.0040	0.0073	0.0040	0.0039	0.0068	0.0066	0.0012	0.0055	0.0035	0.0023	0.0002	0.0001	0	0.0073	0.0058	0.0048	0.417	0.25055	T	0.419	0.30143	T	0.202	0.29746	B	0.034	0.22546	B	0.000001	0.84330	D	0.095843	1	0.81001	D	2.33	0.66821	M	.	.	.	-1.89	0.44094	N	0.653	0.66358	-0.7949	0.55444	T	0.171	0.51181	T	9	0.008586347	0.00194	T	0.007267	0.19280	T	0.165	0.42395	.	.	0.0884992946249	0.08302	0.6433211322886058	0.64267	0.248921944762	0.27465	0.683779478073	0.64812	T	0.014186	0.23310	T	-0.117284	0.33568	T	0.0635991	0.74484	D	0.0249990377957096	0.01273	T	0.849515	0.54741	T	0.2779578	0.50851	0.28916922	0.54936	0.2779578	0.50851	0.28916922	0.54935	-7.777	0.59540	D	.	.	0.139	0.49711	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362878	0.46435	22.3	0.97995278038187272	0.37431	0.99117	0.91475	D	AEFBI	0.870694	0.79176	D	0.111682650628339	0.47007	2.932562	0.27609114928051	0.54148	3.581	0.999999602734535	0.74766	0.554377	0.28877	0	0.601575	0.49859	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	7.345000	0.78576	10.003000	0.83052	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.0:1.0:0.0	19.422	0.94717	767	0.49651	.;.;.;.;.;.	.	.	.	.	.	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	790.68	33	chr5	88206475	.	G	A	790.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.641;DP=614;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.134;SOR=0.653	GT:AD:DP:GQ:PL	0/1:9,7:16:99:174,0,210	18	0	3	0
chr5	108380904	108380904	G	C	exonic	FBXL17	.	nonsynonymous SNV	FBXL17:NM_001163315:exon1:c.C788G:p.S263C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.39	B	0.112	B	.	.	1.000	N	0	N	2.8	T	-1.060	T	0.014	T	0.07	1.403	10.63	2.41	1.672	3.996	8.017	0.100	0.401141615847	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978871791	0.0001	0.0001	0.0001	0.0001	0.0027	0.0001	0.0001	0.0022	0.0020	0.0027	0.0007	0	0	0	0.0019	5.464e-05	0.0006	5.145e-05	0.0006	0.0006	0.0005	0.0006	0.0016	0.0005	0.0004	0.0013	0.0012	0.0016	0	0.0006	0	0	0	0.0068	5.897e-05	0.0019	0	0.001	0.78490	D	0.095	0.55759	T	0.39	0.34593	B	0.112	0.31615	B	.	.	.	.	1	0.81001	D	0.695	0.17993	N	2.8	0.11082	T	-1.72	0.40850	N	0.182	0.19728	-1.0603	0.11681	T	0.014	0.05753	T	9	0.07984927	0.12892	T	0.401142	0.93400	D	0.100	0.28662	0.257	0.19845	0.043077524339	0.03247	0.3239771089051689	0.32310	0.63478802556	0.57320	0.855538606644	0.90447	D	0.011134	0.09975	T	-0.56716	0.00230	T	-0.617542	0.11379	T	0.239235722814744	0.22384	T	0.593841	0.21938	T	0.15487665	0.35032	0.21301949	0.45795	0.15487665	0.35031	0.21301949	0.45794	-4.768	0.34216	T	.	.	0.080	0.07889	B	.;.	.;.	3.783979	0.54419	23.5	0.95948751370279073	0.28264	0.52749	0.29206	D	ALL	0.187014	0.31431	N	-0.32568202561827	0.28175	1.551926	-0.268059992687666	0.29158	1.631321	0.999999996459569	0.74766	0.652421	0.48094	0	0.484254	0.07192	0	0.64067	0.45733	0	0.581474	0.35302	0	.	.	3.32	2.41	0.28644	5.920000	0.69743	8.708000	0.78127	0.509000	0.23192	0.997000	0.40164	1.000000	0.68203	0.930000	0.46718	0.1263:0.0:0.8737:0.0	8.017	0.29546	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	0.02381	613.98	28	chr5	108380904	.	G	C	613.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.221e+00;DP=734;ExcessHet=0.0000;FS=5.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.98;ReadPosRankSum=-1.562e+00;SOR=0.167	GT:AD:DP:GQ:PL	0/1:17,24:41:99:628,0,514	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	0/1:65,58,0,0:123:99:1238,0,1617,1433,1791,3223,1433,1791,3223,3223	0	7	7	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P	D-bifunctional protein deficiency, Autosomal recessive;Perrault syndrome 1, Autosomal recessive	.	2	1519	1	0	0	1	0.000329056	.	.	586310	HSD17B4-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.003	B	0.004	B	0.207	N	0.988	N	0.55	N	-1.75	D	-0.897	T	0.264	T	0.158	2.319	13.71	-0.052	0.043	0.698	4.261	0.119	0.0202688819982	.	.	1.649e-05	0	0	0	0	2.998e-05	0	0	1.29e-05	2	154602	rs781084978	3.496e-05	0.0004	3.764e-05	3.226e-05	0.0002	2.69e-05	2.427e-05	2.903e-05	2.574e-05	6.084e-05	0	0	2.53e-05	0	0.0002	3.878e-05	1.684e-05	3.505e-05	1.314e-05	1.313e-05	2.57e-05	0	2.941e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.941e-05	0	0	0.242	0.22312	T	0.221	0.33109	T	0.001	0.11197	B	0.004	0.10090	B	0.207218	0.16453	N	0.644539	0.998062	0.24425	N	0.475	0.13142	N	-1.75	0.83495	D	-1.61	0.39314	N	0.175	0.23380	-0.8970	0.48293	T	0.264	0.63501	T	10	0.10314271	0.18945	T	0.020269	0.42829	T	0.119	0.33137	0.362	0.36711	0.824880002343	0.82322	0.5836028072308838	0.58289	0.0727130368711	0.08147	0.366561591625	0.20337	T	0.11293	0.42958	T	-0.102227	0.36054	T	-0.320973	0.42469	T	0.054950729434631	0.06349	T	0.766723	0.42712	T	0.19631228	0.41454	0.13157105	0.31591	0.19631228	0.41454	0.13157105	0.31590	-2.563	0.06901	T	0.09032067692630434	0.05612	0.076	0.05845	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	2.009926	0.25536	16.80	0.98932034170165739	0.48769	0.68143	0.33691	D	AEFBI	0.580553	0.58092	D	-0.52650164453884	0.21227	1.124927	-0.381430793229907	0.25551	1.40583	0.0673286344376866	0.15422	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.49	-0.052	0.13154	0.865000	0.27595	1.506000	0.26990	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1112:0.0816:0.4962:0.311	4.261	0.10188	920	0.19381	N-terminal of MaoC-like dehydratase;.;N-terminal of MaoC-like dehydratase;.;.;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase;N-terminal of MaoC-like dehydratase	.	.	.	.	.	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	0.1667	785.45	37	chr5	119499449	.	T	C	785.45	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-2.748e+00;DP=1279;ExcessHet=2.5830;FS=149.385;InbreedingCoeff=-0.1971;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=1.39;ReadPosRankSum=1.58;SOR=9.940	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,22:62:99:0|1:119499447_G_C:444,0,1218:119499447	14	0	7	0
chr5	122403816	122403816	G	A	exonic	SNCAIP	.	nonsynonymous SNV	SNCAIP:NM_001308108:exon2:c.G35A:p.R12Q	.	.	420	1078	24	0	0	24	0.0110092	.	.	300450	not_provided|Parkinson_Disease,_Dominant/Recessive	MedGen:C3661900|MedGen:CN239308	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.1	T	0.0	B	0.0	B	.	.	1.000	D	.	.	4.99	T	-0.830	T	0.005	T	.	2.178	13.24	3.85	0.726	0.229	10.275	0.103	.	0.0012	0.00439297	0.0046	0.0002	0.0016	0	0	0.0025	0.0033	0.0220	0.0040232	622	154602	rs149915358	0.0026	0.0026	0.0020	0.0032	0.0209	0.0025	0.0025	0.0201	0.0198	0.0002	0.0010	0.0180	7.557e-05	3.744e-05	0.0172	0.0010	0.0037	0.0209	0.0017	0.0017	0.0013	0.0021	0.0201	0.0015	0.0015	0.0169	0.0157	0.0002	0	0.0007	0.0167	0.0004	0	0.0068	0.0010	0.0047	0.0201	0.278	0.15613	T	0.361	0.16914	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.81001	D	.	.	.	4.99	0.01332	T	0.42	0.03352	N	0.164	0.17278	-0.8299	0.53308	T	0.005	0.01506	T	8	0.0058555007	0.00131	T	.	.	.	0.103	0.29403	.	.	0.212008924253	0.20833	.	.	.	.	.	.	.	.	.	.	-0.508087	0.00515	T	-0.486352	0.23774	T	0.00387300277121461	0.00041	T	0.517348	0.16736	T	.	.	.	.	.	.	.	.	-3.634	0.18350	T	.	.	0.086	0.10883	B	.	.	1.161504	0.15504	11.90	0.97119312405919456	0.32447	0.57759	0.30461	D	AEFBI	0.090564	0.18351	N	-0.586919002331743	0.19340	1.011473	-0.418239358622913	0.24462	1.339663	0.998661427860376	0.37413	0.638212	0.43195	0	0.541556	0.11502	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	5.64	3.85	0.43556	0.357000	0.19935	1.180000	0.24688	-1.177000	0.01391	0.998000	0.41325	1.000000	0.68203	0.985000	0.61073	0.1382:0.5734:0.2884:0.0	10.275	0.42687	790	0.46189	.	.	.	.	.	.	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	914.98	41	chr5	122403816	.	G	A	914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.41;DP=838;ExcessHet=0.0000;FS=0.763;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.47;ReadPosRankSum=1.03;SOR=0.836	GT:AD:DP:GQ:PL	0/1:69,39:108:99:929,0,1758	20	0	1	0
chr5	132579330	132579330	G	A	exonic	RAD50	.	nonsynonymous SNV	RAD50:NM_005732:exon4:c.G379A:p.V127I,	Nijmegen breakage syndrome-like disorder	.	3	1500	18	1	0	20	0.00662252	.	.	133480	not_provided|Nijmegen_breakage_syndrome-like_disorder|Hereditary_cancer-predisposing_syndrome|not_specified	MedGen:C3661900|MONDO:MONDO:0013118,MedGen:C2751318,OMIM:613078,Orphanet:240760|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.15	T	0.999	D	0.978	D	0.000	D	1.000	D	1.425	L	2.56	T	-1.107	T	0.116	T	0.274	3.937	20.1	5.69	2.683	4.793	18.801	0.142	0.0138887376583	0.0018	0.000399361	0.0017	0.0003	0.0009	0.0001	0	0.0027	0.0022	0.0004	0.0015394	238	154602	rs28903086	0.0013	0.0013	0.0013	0.0014	0.0075	0.0013	0.0013	0.0057	0.0051	0.0002	0.0012	0.0098	2.521e-05	0.0001	0.0075	0.0013	0.0021	0.0006	0.0015	0.0015	0.0012	0.0017	0.0040	0.0013	0.0012	0.0032	0.0029	0.0002	0	0.0040	0.0107	0	0	0.0136	0.0016	0.0014	0.0004	0.251	0.37750	T	0.198	0.43159	T	0.999	0.77913	D	0.978	0.74104	D	0.000008	0.62929	D	0.107793	0.999927	0.81001	D	1.785	0.46417	L	1.97	0.22067	T	-0.85	0.23156	N	0.273	0.30914	-1.1075	0.03293	T	0.116	0.41008	T	10	0.009372592	0.00212	T	0.013889	0.33629	T	0.142	0.37995	.	.	0.603090222555	0.59992	0.3234470342466072	0.32257	.	.	0.512988805771	0.40641	T	0.022545	0.29965	T	-0.452504	0.01092	T	-0.429243	0.30020	T	0.0351086830079902	0.02827	T	0.89781	0.78426	D	0.2301101	0.45760	0.21668446	0.46305	0.2301101	0.45760	0.21668446	0.46304	-5.559	0.42416	T	0.3448653139655321	0.44242	0.093	0.14015	B	.;.;.;.;.;.	.;.;.;.;.;.	3.165794	0.42909	21.6	0.99752672536328513	0.84382	0.96551	0.69706	D	AEFBI	0.455965	0.50803	N	0.656899531823253	0.76816	6.556754	0.676887313599939	0.80628	7.341078	0.62270337508391	0.21899	0.732398	0.92422	0	0.724815	0.89359	0	0.724815	0.87919	0	0.727631	0.95156	0	.	.	5.69	5.69	0.88346	4.896000	0.62911	4.411000	0.43281	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	18.801	0.91984	816	0.41767	.;.;.;.;Rad50/SbcC-type AAA domain;Rad50/SbcC-type AAA domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0.02381	1389.98	33	chr5	132579330	.	G	A	1389.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.58;DP=792;ExcessHet=0.0000;FS=2.728;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.572;SOR=1.041	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1404,0,1132	20	0	1	0
chr5	132814178	132814178	G	A	exonic	SOWAHA	.	nonsynonymous SNV	SOWAHA:NM_175873:exon1:c.G557A:p.R186K,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.96	T	0.002	B	0.001	B	0.001	U	1.000	N	1.15	L	2.05	T	-1.064	T	0.031	T	0.148	1.232	9.997	-0.874	-0.282	0.028	0.876	0.026	0.00777471961488	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.08839	T	0.657	0.06576	T	.	.	.	.	.	.	0.000796	0.00685	U	9.779040	1	0.08975	N	.	.	.	2.05	0.20664	T	-0.65	0.18877	N	0.037	0.01135	-1.0639	0.10807	T	0.031	0.13286	T	10	0.06249684	0.07998	T	0.007775	0.20616	T	0.026	0.05648	0.344	0.33788	0.0297737177859	0.01360	0.37903125344534067	0.37818	.	.	0.727076292038	0.71079	T	.	.	.	-0.298778	0.08775	T	-0.666951	0.07805	T	0.0634735964165042	0.07703	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20352	B	.	.	0.525719	0.08943	5.726	0.75008202679384317	0.10910	0.09740	0.15427	N	AEFDBCI	0.173285	0.30036	N	-1.23804585975366	0.04460	0.2013095	-1.28027248450781	0.04697	0.2221811	0.989155397862193	0.31739	0.437478	0.07067	0	0.475579	0.06741	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.34	-0.874	0.10093	-1.739000	0.01939	-0.232000	0.10668	0.489000	0.22316	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.2677:0.3108:0.2632:0.1583	0.876	0.01146	892	0.26670	.	.	.	.	.	.	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	475.98	36	chr5	132814178	.	G	A	475.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.38;DP=775;ExcessHet=0.0000;FS=4.561;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.203;SOR=1.025	GT:AD:DP:GQ:PL	0/1:24,18:42:99:490,0,583	20	0	1	0
chr5	132826007	132826007	G	T	exonic	SHROOM1	.	nonsynonymous SNV	SHROOM1:NM_133456:exon1:c.C134A:p.P45Q	.	.	408	1090	24	0	0	24	0.0108893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.58	P	0.274	B	0.074	N	0.998	N	0.805	L	1.59	T	-1.065	T	0.049	T	0.122	2.392	13.96	2.15	1.032	1.013	8.450	0.025	.	0.0027	0.00299521	0.0125	0.0066	0.0489	0	0	0.0165	0.0183	0.0017	0.0035705	552	154602	rs143556262	0.0043	0.0044	0.0043	0.0044	0.0303	0.0042	0.0042	0.0266	0.0252	0.0028	0.0081	0.0195	3.022e-05	0.0002	0.0303	0.0042	0.0069	0.0010	0.0054	0.0054	0.0054	0.0054	0.0123	0.0051	0.0050	0.0109	0.0104	0.0032	0.0844	0.0123	0.0228	0.0002	9.413e-05	0.0170	0.0046	0.0128	0.0008	0.004	0.65419	D	0.038	0.52727	D	0.445	0.38813	B	0.086	0.40037	B	0.073608	0.21335	N	0.450054	0.997853	0.22475	N	1.24	0.30952	L	1.59	0.28836	T	-1.0	0.36189	N	0.15	0.15749	-1.0651	0.10526	T	0.049	0.21065	T	10	0.0021722615	0.00031	T	.	.	.	0.025	0.05312	.	.	0.390687800842	0.38684	0.2563370100434633	0.25547	1.85053627727	0.92283	0.62879884243	0.56974	T	0.015441	0.16816	T	-0.58936	0.00169	T	-0.607675	0.12174	T	0.0175188138830554	0.00487	T	0.555444	0.19458	T	0.07915242	0.18067	0.05722803	0.10366	0.07915242	0.18067	0.05722803	0.10366	-5.289	0.39913	T	.	.	0.085	0.17103	B	.;.;.;.;.	.;.;.;.;.	2.464583	0.31755	18.84	0.98180467203916133	0.38941	0.61743	0.31574	D	AEFDBCI	0.158046	0.28365	N	-0.499384681410579	0.22101	1.177747	-0.459099150949242	0.23290	1.269379	0.99997135325885	0.50053	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.699875	0.68795	0	.	.	4.18	2.15	0.26590	0.175000	0.16577	1.431000	0.26447	-0.148000	0.12190	0.002000	0.15269	0.930000	0.28522	0.032000	0.13371	0.0:0.0:0.5755:0.4245	8.450	0.32028	909	0.22467	.;.;.;.;.	.	.	.	.	.	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	1443.98	33	chr5	132826007	.	G	T	1443.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.800e-02;DP=853;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=-9.640e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1458,0,1480	20	0	1	0
chr5	133096099	133096099	C	T	exonic	HSPA4	.	nonsynonymous SNV	HSPA4:NM_002154:exon14:c.C1652T:p.T551I,	.	.	432	1088	2	0	0	2	0.000918274	0.6342	0.47	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.96	D	0.761	P	0.000	D	1.000	D	0.69	N	5.43	T	-0.229	T	0.006	T	0.642	2.638	14.78	4.95	2.454	7.175	18.551	0.219	0.0275625844065	7.7e-05	.	7.174e-05	0	9.376e-05	0	0	9.904e-05	0	6.479e-05	5.82e-05	9	154602	rs371677137	2.122e-05	2.121e-05	1.907e-05	2.34e-05	0.0002	1.521e-05	1.325e-05	8.88e-05	6.441e-05	0	0.0002	0	0	0	0	1.89e-05	1.658e-05	1.161e-05	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	0.321	0.13522	T	0.193	0.28210	T	0.96	0.55278	D	0.761	0.56482	P	0.000005	0.62929	D	0.104544	1	0.81001	D	1.87	0.49600	L	5.43	0.00989	T	-1.83	0.42957	N	0.664	0.67304	-0.2288	0.76919	T	0.006	0.02093	T	10	0.56289846	0.64888	D	0.027563	0.50355	D	0.219	0.51417	.	.	0.476378746412	0.47268	0.2630939058132301	0.26222	0.253094250479	0.27877	0.61678981781	0.55275	T	0.256077	0.62694	T	-0.206099	0.19932	T	-0.278777	0.46930	T	0.296826958656311	0.24872	T	0.792521	0.43410	T	0.18425302	0.39731	0.12510201	0.30147	0.18425302	0.39731	0.12510201	0.30146	-6.66	0.51508	T	.	.	0.191	0.49788	B	.;.	.;.	4.405906	0.68124	25.2	0.97624817252093887	0.34983	0.99754	0.99218	D	AEFGBI	0.926845	0.90860	D	0.478838654005102	0.65855	4.875348	0.527138648208567	0.69822	5.415597	0.999999997006253	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	4.95	4.95	0.64894	7.474000	0.80024	7.662000	0.64290	0.539000	0.25131	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:1.0:0.0:0.0	18.551	0.91016	842	0.36989	.;.	.	.	.	.	.	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	942.98	33	chr5	133096099	.	C	T	942.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.000e-03;DP=771;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.72;ReadPosRankSum=2.00;SOR=0.730	GT:AD:DP:GQ:PL	0/1:50,38:88:99:957,0,1354	20	0	1	0
chr5	134688287	134688287	T	G	exonic	SEC24A	.	nonsynonymous SNV	SEC24A:NM_001252231:exon11:c.T1711G:p.S571A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.905	P	0.931	D	0.000	D	1.000	D	1.75	L	-0.93	T	-0.083	T	0.510	D	0.63	3.470	17.77	5.78	2.204	6.139	16.119	0.358	0.0415033546808	.	.	2.497e-05	0	0	0	0	1.507e-05	0	0.0001	1.94e-05	3	154602	rs762980360	7.832e-06	8.213e-06	8.546e-06	7.119e-06	4.712e-05	4.2e-06	3.07e-06	1.6e-05	9.41e-06	0	0	3.876e-05	0	0	0	5.66e-06	0	4.712e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.34800	T	0.288	0.43159	T	0.905	0.49920	P	0.931	0.66596	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.09	0.57893	M	-0.93	0.75215	T	-2.08	0.50502	N	0.763	0.76111	-0.0833	0.80480	T	0.510	0.81565	D	10	0.7881757	0.78428	D	0.041503	0.59964	D	0.507	0.78786	0.719	0.85408	0.806323581441	0.80450	0.49202011243058125	0.49123	0.418032938236	0.42399	0.803684830666	0.82525	D	0.081923	0.36710	T	-0.0278024	0.47737	T	-0.0741129	0.65332	T	0.562611162662506	0.34954	D	0.947205	0.79675	D	0.4474879	0.63882	0.50803757	0.71568	0.4474879	0.63883	0.50803757	0.71569	-7.41	0.59271	T	.	.	0.130	0.27939	B	.;.	.;.	4.829321	0.78732	27.0	0.99492585523937416	0.67516	0.97802	0.77240	D	AEFDBI	0.701478	0.65816	D	0.626867598147889	0.74880	6.208401	0.652751528535904	0.78815	6.952981	0.999035019743362	0.38264	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	6.118000	0.71287	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.119	0.81146	567	0.70732	Sec23/Sec24, trunk 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	1162.98	33	chr5	134688287	.	T	G	1162.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.500e-02;DP=793;ExcessHet=0.0000;FS=3.595;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.67;ReadPosRankSum=0.397;SOR=1.077	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1177,0,1670	20	0	1	0
chr5	139326213	139326213	C	G	exonic	MATR3	.	nonsynonymous SNV	MATR3:NM_001194956:exon13:c.C1558G:p.L520V	Amyotrophic lateral sclerosis 21, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.993	D	0.952	D	0.000	D	1.000	D	2.16	M	-1.28	T	0.230	D	0.597	D	0.573	2.777	15.25	5.12	2.390	2.330	9.398	0.411	0.043037839011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.72154	D	0.0	0.92824	D	0.993	0.65571	D	0.952	0.69102	D	0.000005	0.62929	D	0.064020	0.970806	0.81001	D	1.465	0.36909	L	-1.28	0.79376	T	-1.93	0.48687	N	0.428	0.63628	0.230	0.86411	D	0.597	0.85644	D	10	0.4658085	0.59562	T	0.043038	0.60775	D	0.411	0.72252	0.307	0.27806	0.782128706469	0.78011	0.4141043706151133	0.41326	0.507843722597	0.48965	0.746913909912	0.73991	T	0.106032	0.41703	T	0.0822375	0.62301	D	-0.119648	0.61832	T	0.867589059671067	0.51759	D	0.949605	0.88660	D	0.21364106	0.43747	0.1898273	0.42352	0.21364106	0.43747	0.1898273	0.42351	-9.59	0.71418	D	.	.	0.859	0.81592	P	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	3.966869	0.58223	24.0	0.9973338257396801	0.82904	0.95802	0.66216	D	AEFGBI	0.567869	0.57328	D	0.612583464627393	0.73969	6.053824	0.587620726464667	0.74050	6.071807	0.999965609160789	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.12	5.12	0.69459	1.848000	0.38949	4.905000	0.45897	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.8422:0.0:0.1578	9.398	0.37580	613	0.66686	Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;.;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger;Matrin/U1-C, C2H2-type zinc finger|Matrin/U1-C-like, C2H2-type zinc finger	.	.	.	.	.	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	1239.98	35	chr5	139326213	.	C	G	1239.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.461;DP=797;ExcessHet=0.0000;FS=0.766;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=0.022;SOR=0.866	GT:AD:DP:GQ:PL	0/1:48,48:96:99:1254,0,1254	20	0	1	0
chr5	140850017	140850017	G	A	exonic	PCDHA9	.	nonsynonymous SNV	PCDHA9:NM_014005:exon1:c.G1522A:p.V508M	.	.	424	1061	33	4	0	41	0.0189552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.95	D	0.013	U	1.000	N	2.68	M	0.11	T	-0.732	T	0.258	T	0.48	2.804	15.34	3.56	1.973	0.146	4.962	0.300	.	0.0034	0.0081869	0.0078	0.0007	0.0033	0.0003	0.0032	0.0054	0.0078	0.0308	0.0070633	1092	154602	rs149779533	0.0058	0.0058	0.0050	0.0067	0.0305	0.0057	0.0057	0.0295	0.0291	0.0007	0.0028	0.0104	0.0030	0.0043	0.0090	0.0042	0.0060	0.0305	0.0042	0.0042	0.0038	0.0046	0.0296	0.0039	0.0038	0.0256	0.0241	0.0007	0	0.0050	0.0117	0.0017	0.0030	0.0103	0.0043	0.0067	0.0296	0.0	0.91255	D	0.001	0.83351	D	0.999	0.77913	D	0.95	0.68788	D	0.013244	0.28902	U	0.000000	1	0.81001	D	2.865	0.83145	M	0.11	0.61208	T	-2.89	0.60827	D	0.286	0.32370	-0.7319	0.58867	T	0.258	0.62834	T	10	0.008924365	0.00202	T	.	.	.	0.300	0.62068	.	.	0.699004069071	0.69640	0.19655199186583552	0.19572	.	.	.	.	.	0.080859	0.36462	T	-0.367512	0.03722	T	-0.278369	0.46971	T	0.0443135886129694	0.04477	T	0.950905	0.81262	D	0.29469377	0.52425	0.2953771	0.55569	0.29469377	0.52424	0.2953771	0.55568	-8.262	0.62842	D	.	.	0.519	0.65448	A	.;.	.;.	2.831974	0.37339	20.5	0.99825595724751592	0.90764	0.08827	0.14698	N	AEFBI	0.138797	0.26020	N	0.21702517213743	0.52026	3.379325	0.0612865957479353	0.42620	2.581126	1.06077236194766E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.56	3.56	0.39892	-0.382000	0.07466	.	.	-0.318000	0.05900	0.000000	0.06391	0.000000	0.08366	0.548000	0.30127	0.2898:0.0:0.7102:0.0	4.962	0.13417	32	0.98147	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	0.04762	5727.11	201	chr5	140850017	.	G	A	5727.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.90;DP=3558;ExcessHet=0.1072;FS=5.854;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.64;MQRankSum=0.490;QD=14.61;ReadPosRankSum=1.01;SOR=0.479	GT:AD:DP:GQ:PL	0/1:105,108:213:99:3079,0,2643	19	0	2	0
chr5	140856707	140856707	A	C	exonic	PCDHA10	.	nonsynonymous SNV	PCDHA10:NM_018901:exon1:c.A659C:p.E220A	.	.	440	1076	5	1	0	7	0.00324224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.158	B	0.135	B	.	.	1.000	N	1	L	2.17	T	-1.037	T	0.040	T	0.564	0.339	5.837	4.29	1.931	-0.260	7.380	0.140	.	.	0.00219649	0.0011	9.69e-05	0	0	0	4.548e-05	0.0022	0.0074	0.0008991	139	154602	rs554030052	0.0005	0.0005	0.0002	0.0007	0.0072	0.0004	0.0004	0.0068	0.0066	6e-05	2.259e-05	0	0	0	0.0026	1.637e-05	0.0004	0.0072	0.0003	0.0003	0.0002	0.0005	0.0103	0.0003	0.0002	0.0080	0.0072	0	0	6.687e-05	0	0	0	0	1.491e-05	0	0.0103	0.171	0.22746	T	0.404	0.14818	T	0.158	0.28271	B	0.135	0.33210	B	.	.	.	.	0.999999	0.08975	N	0.225	0.09600	N	2.17	0.19020	T	-5.79	0.88065	D	0.383	0.61933	-1.0367	0.18326	T	0.040	0.17362	T	9	0.005007416	0.00108	T	.	.	.	0.140	0.37593	0.266	0.21261	0.557050979708	0.55364	0.13658186344295195	0.13582	.	.	.	.	.	0.067153	0.33129	T	-0.198513	0.21020	T	-0.415269	0.31618	T	0.0580580925008944	0.06860	T	0.857914	0.54791	D	0.27070516	0.50142	0.25105646	0.50709	0.27070516	0.50142	0.25105646	0.50708	-6.207	0.48904	T	.	.	0.084	0.09868	B	.;.;.	.;.;.	4.030923	0.59609	24.1	0.92371749510415224	0.21778	0.77147	0.37900	D	AEFDBI	0.239300	0.36128	N	-0.337047817953228	0.27751	1.525098	-0.257173805862139	0.29525	1.654833	0.0754902320945944	0.15698	0.653496	0.48692	0	0.547309	0.14657	0	0.596874	0.31795	0	0.584449	0.35598	0	.	.	4.29	4.29	0.50359	2.819000	0.47749	.	.	0.634000	0.51959	0.758000	0.29220	0.000000	0.08366	0.997000	0.79791	0.7141:0.1457:0.0:0.1402	7.380	0.26025	32	0.98147	.;.;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	3054.98	34	chr5	140856707	.	A	C	3054.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.114;DP=889;ExcessHet=0.0000;FS=8.800;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.88;ReadPosRankSum=0.367;SOR=0.736	GT:AD:DP:GQ:PL	0/1:74,107:181:99:3069,0,2179	20	0	1	0
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	0/1:183,73:256:99:.:.:811,0,4191	1	0	20	0
chr5	141356585	141356585	C	G	exonic	PCDHGA4	.	nonsynonymous SNV	PCDHGA4:NM_018917:exon1:c.C1478G:p.P493R	.	.	412	1076	32	2	0	36	0.0164534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.00199681	0.0024	0.0004	0.0006	0	0	0.0012	0.0033	0.0116	0.0020634	319	154602	rs11575950	0.0014	0.0014	0.0009	0.0018	0.0129	0.0013	0.0013	0.0122	0.0120	0.0001	0.0004	0.0084	2.519e-05	7.488e-05	0.0104	0.0004	0.0021	0.0129	0.0010	0.0010	0.0009	0.0011	0.0143	0.0008	0.0008	0.0116	0.0106	2.406e-05	0	0.0004	0.0078	0	0	0	0.0006	0.0024	0.0143	.	.	.	0.268	0.34596	T	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	.	.	.	.	.	.	0.128	0.12198	.	.	.	.	.	.	.	0.009448558	0.00213	T	.	.	.	.	.	.	.	0.708209581343	0.70566	0.16619594975698668	0.16539	0.601724968327	0.55209	.	.	.	.	.	.	-0.446249	0.01188	T	-0.403395	0.32990	T	.	.	.	0.786121	0.47860	T	0.12372891	0.29045	0.19821483	0.43643	0.12372891	0.29045	0.19821483	0.43643	-7.023	0.54202	T	.	.	0.100	0.17232	B	.;.	.;.	1.196878	0.15889	12.17	0.7920867795643789	0.12638	0.15499	0.18941	N	AEFBI	0.203332	0.32985	N	.	.	.	.	.	.	0.457882207940288	0.20598	0.582742	0.33608	0	0.547309	0.14657	0	0.602189	0.34648	0	0.620976	0.48614	0	.	.	5.68	1.82	0.24209	-2.055000	0.01485	.	.	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.296000	0.24405	0.1184:0.6214:0.0:0.2602	6.922	0.23576	641	0.64016	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	0.07143	13005.68	33	chr5	141356585	.	C	G	13005.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.890e+00;DP=1926;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.036;SOR=0.690	GT:AD:DP:GQ:PL	0/1:166,173:339:99:4414,0,4368	18	0	3	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3571	4374.45	280	chr5	141400463	.	A	G	4374.45	.	AC=15;AF=0.357;AN=42;BaseQRankSum=-6.509e+00;DP=4902;ExcessHet=17.4423;FS=250.847;InbreedingCoeff=-0.5560;MLEAC=15;MLEAF=0.357;MQ=59.98;MQRankSum=0.00;QD=1.01;ReadPosRankSum=0.940;SOR=14.362	GT:AD:DP:GQ:PL	0/1:202,101:303:99:349,0,4014	6	0	15	0
chr5	141421624	141421624	A	G	exonic	PCDHGA11	.	nonsynonymous SNV	PCDHGA11:NM_018914:exon1:c.A397G:p.S133G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.02	B	0.021	B	0.193	U	1.000	N	2.205	M	2.08	T	-1.016	T	0.048	T	0.16	-0.036	3.828	3.34	1.021	-0.210	4.907	0.047	0.00447681264647	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	2.723e-06	2.751e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	8.995e-07	0	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.152	0.29288	T	0.203	0.27325	T	0.004	0.18235	B	0.007	0.19346	B	0.193471	0.16784	U	0.306666	1	0.08975	N	2.115	0.58683	M	2.08	0.20255	T	-1.67	0.41239	N	0.21	0.27792	-1.0158	0.25078	T	0.048	0.20474	T	10	0.12542427	0.23835	T	0.004477	0.11000	T	0.047	0.12962	0.304	0.27325	0.365317461125	0.36143	0.07541702892520409	0.07477	0.355846640087	0.37339	.	.	.	0.00761	0.07006	T	-0.238494	0.15542	T	-0.580356	0.14513	T	0.0594987130709268	0.07090	T	0.526647	0.37414	T	0.104547635	0.24716	0.08447413	0.19436	0.104547635	0.24716	0.08447413	0.19436	-6.68	0.52641	T	.	.	0.086	0.10497	B	.;.;.	.;.;.	2.301910	0.29454	18.13	0.89946636107206501	0.19244	0.11077	0.16392	N	AEFDGBHCI	0.131565	0.25055	N	-0.453302702495304	0.23627	1.270185	-0.377922750615157	0.25656	1.412293	0.999972807175733	0.50053	0.652421	0.48094	0	0.748881	0.99253	0	0.64067	0.45733	0	0.604282	0.37693	0	.	.	5.93	3.34	0.37357	-0.547000	0.06145	.	.	0.691000	0.84096	0.000000	0.06391	0.000000	0.08366	0.926000	0.46234	0.5507:0.2832:0.0692:0.0968	4.907	0.13156	819	0.41190	.;.;.	.	.	.	.	.	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	1179.98	76	chr5	141421624	.	A	G	1179.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.001e+00;DP=1142;ExcessHet=0.0000;FS=1.562;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-7.690e-01;SOR=0.521	GT:AD:DP:GQ:PL	0/1:67,46:113:99:1194,0,2265	20	0	1	0
chr5	141487556	141487556	A	G	exonic	PCDHGC4	.	nonsynonymous SNV	PCDHGC4:NM_018928:exon1:c.A2383G:p.M795V	.	.	432	1083	6	1	0	8	0.00367985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.001	B	0.004	B	.	.	1.000	N	0.6	N	-3.23	D	-0.469	T	0.542	D	0.273	-0.519	1.630	1.67	0.858	0.327	3.069	0.197	.	0.0008	0.00119808	0.0029	9.612e-05	0.0002	0.0002	0.0247	0.0025	0.0044	0.0012	0.0024709	382	154602	rs151293422	0.0016	0.0016	0.0016	0.0017	0.0012	0.0016	0.0016	0.0010	0.0009	5.974e-05	0.0003	0.0017	7.557e-05	0.0195	0.0007	0.0010	0.0014	0.0012	0.0028	0.0028	0.0016	0.0041	0.0019	0.0026	0.0025	0.0016	0.0015	0.0001	0	0.0010	0.0012	0	0.0255	0	0.0019	0.0009	0.0006	0.515	0.07378	T	0.205	0.27145	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.81001	D	0.345	0.11182	N	-3.23	0.93414	D	-0.36	0.13035	N	0.24	0.27077	-0.4689	0.69763	T	0.542	0.83127	D	9	0.0037896335	0.00071	T	.	.	.	0.197	0.47942	.	.	0.628190668029	0.62515	0.2226084415945503	0.22175	0.427794956956	0.43115	.	.	.	0.003622	0.03030	T	-0.280264	0.10638	T	-0.179347	0.56583	T	0.0101184897906108	0.00136	T	0.546045	0.18695	T	0.047300506	0.08062	0.08140843	0.18497	0.047300506	0.08061	0.08140843	0.18497	-2.247	0.04511	T	.	.	0.054	0.00347	B	.;.	.;.	1.764184	0.22436	15.62	0.71768740151062049	0.09742	0.62681	0.31855	D	AEFGBI	0.231884	0.35504	N	-0.489400432714019	0.22428	1.197478	-0.334142019915442	0.27004	1.495449	0.999927406468425	0.46280	0.623552	0.39893	0	0.547309	0.14657	0	0.667671	0.60360	0	0.542086	0.14980	0	.	.	5.43	1.67	0.23149	1.412000	0.34322	.	.	0.691000	0.84096	1.000000	0.71638	0.998000	0.33993	0.997000	0.79791	0.6109:0.126:0.1512:0.1118	3.069	0.05850	744	0.52588	.;.	.	.	.	.	.	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	2105.98	34	chr5	141487556	.	A	G	2105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=1010;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=0.753;SOR=0.625	GT:AD:DP:GQ:PL	0/1:80,77:157:99:2120,0,2208	20	0	1	0
chr5	149239273	149239273	C	T	exonic	ABLIM3	.	nonsynonymous SNV	ABLIM3:NM_001301015:exon11:c.C1070T:p.S357F	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.001	B	0.002	B	0.000	D	1.000	D	0.85	L	0.54	T	-1.018	T	0.109	T	0.896	2.897	15.65	5.01	2.481	5.565	16.461	0.297	0.0168894955681	0.0002	.	0.0005	0	0.0003	0	0	0.0006	0	0.0008	0.0004916	76	154602	rs201076202	0.0008	0.0008	0.0008	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	0.0003	0.0005	3.826e-05	0	1.872e-05	0	0.0010	0.0007	0.0005	0.0003	0.0003	0.0003	0.0004	0.0006	0.0003	0.0002	0.0004	0.0004	4.827e-05	0	0.0004	0	0	0	0	0.0006	0.0005	0.0004	0.076	0.34269	T	0.257	0.45744	T	0.001	0.07471	B	0.002	0.06944	B	0.000022	0.55875	D	0.121045	0.999968	0.81001	D	2.075	0.57047	M	0.54	0.55945	T	-2.89	0.60665	D	0.709	0.71232	-1.0178	0.24431	T	0.109	0.39486	T	10	0.20785645	0.37095	T	0.016889	0.38356	T	0.297	0.61730	.	.	0.714809018452	0.71230	0.6444680942069858	0.64381	0.144935694035	0.16379	0.744935154915	0.73700	T	0.172105	0.52048	T	-0.0670493	0.41799	T	0.0903786	0.76270	D	0.113164804875851	0.13748	T	0.917708	0.70434	D	0.30888733	0.53690	0.2966357	0.55697	0.30888733	0.53690	0.2966357	0.55696	-5.381	0.40736	T	.	.	0.545	0.70576	A	.;.;.	.;.;.	4.137525	0.61958	24.4	0.98219409315290429	0.39290	0.98424	0.82634	D	AEFDBI	0.608667	0.59816	D	-0.167878686612295	0.34477	1.968341	0.0408074806810008	0.41630	2.50428	0.999999999961432	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.714379	0.83352	0	.	.	5.01	5.01	0.66477	5.937000	0.69877	7.665000	0.64460	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.461	0.83887	851	0.35303	Putative adherens-junction anchoring domain;Putative adherens-junction anchoring domain;Putative adherens-junction anchoring 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	1244.98	50	chr5	149239273	.	C	T	1244.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.47;DP=900;ExcessHet=0.0000;FS=4.704;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=0.297;SOR=0.921	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1259,0,1265	20	0	1	0
chr5	150403273	150403273	G	A	exonic	CD74	.	nonsynonymous SNV	CD74:NM_001025159:exon7:c.C665T:p.A222V,	.	.	426	1089	7	0	0	7	0.00320366	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.094	B	0.097	B	0.516	N	1.000	N	-0.045	N	-0.05	T	-0.991	T	0.131	T	0.218	0.997	9.072	-5.28	-1.029	-0.467	17.763	0.130	0.0204987983372	0.0002	0.000399361	0.0003	0	0.0004	0	0	0.0004	0	0.0005	0.0002975	46	154602	rs201625143	0.0002	0.0002	0.0002	0.0003	0.0042	0.0002	0.0002	0.0029	0.0024	2.987e-05	0.0006	0	0	7.49e-05	0.0042	0.0002	0.0004	0.0008	0.0001	0.0001	0.0001	0.0001	0.0003	7.084e-05	5.742e-05	0.0001	8.277e-05	0	0	0.0003	0	0	9.413e-05	0.0102	0.0001	0	0.0002	0.332	0.13045	T	0.257	0.23231	T	0.094	0.25382	B	0.097	0.30390	B	0.516318	0.05176	N	1.225170	1	0.18878	N	0.745	0.18958	N	-0.05	0.63403	T	-0.87	0.23590	N	0.148	0.15046	-0.9912	0.32295	T	0.131	0.44129	T	10	0.040401906	0.02606	T	0.020499	0.43107	T	0.130	0.35528	.	.	0.356281029322	0.35234	0.5395797845951315	0.53882	0.484600533098	0.47364	0.271448642015	0.06331	T	0.136661	0.46916	T	-0.439969	0.01294	T	-0.502169	0.22123	T	0.0238227025511468	0.01123	T	0.742826	0.36203	T	0.09019445	0.21098	0.09017445	0.21131	0.09019445	0.21098	0.09017445	0.21131	-4.809	0.34696	T	.	.	0.130	0.27851	B	.	.	2.173566	0.27700	17.55	0.91949836092306059	0.21276	0.21872	0.21553	N	ALL	0.159455	0.28525	N	-1.34511154940331	0.03176	0.1414354	-1.36708961979633	0.03608	0.1686717	0.999999996254709	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.465395	0.07113	1	0.727631	0.95156	0	.	.	5.61	-5.28	0.02543	-0.486000	0.06593	1.230000	0.25036	-0.126000	0.13398	0.000000	0.06391	0.801000	0.26950	0.188000	0.21541	0.0:0.0807:0.1432:0.7762	17.763	0.88379	798	0.45050	Thyroglobulin type-1|Thyroglobulin type-1	.	.	.	.	.	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	1056.98	34	chr5	150403273	.	G	A	1056.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.301e+00;DP=823;ExcessHet=0.0000;FS=1.440;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.39;ReadPosRankSum=0.028;SOR=0.564	GT:AD:DP:GQ:PL	0/1:77,49:126:99:1071,0,2031	20	0	1	0
chr5	151288934	151288934	C	T	exonic	SLC36A3	.	nonsynonymous SNV	SLC36A3:NM_001145017:exon5:c.G527A:p.R176K,	.	.	1075	439	2	6	0	14	0.0156951	0.9999	0.958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	B	0.011	B	.	.	1.000	N	.	.	2.61	T	-0.955	T	0.013	T	0.055	0.453	6.462	0.225	0.300	0.305	.	0.018	.	.	0.0091853	0	.	.	.	.	0	.	.	0.0001153	3	26028	rs138293383	0.0044	0.0009	0.0031	0.0052	0.0056	0.0015	0.0009	0.0010	0.0004	0	0	0	0	0	0.0056	0.0025	0.0192	0	0.0046	0.0047	0.0041	0.0052	0.0268	0.0044	0.0043	0.0231	0.0217	0.0010	0.0175	0.0026	0.0179	0	0.0053	0.0207	0.0050	0.0062	0.0268	0.545	0.06691	T	0.238	0.24549	T	0.002	0.09854	B	0.011	0.15521	B	.	.	.	.	1	0.08975	N	.	.	.	2.61	0.13095	T	0.11	0.05706	N	0.187	0.20395	-0.9552	0.40060	T	0.013	0.05129	T	6	0.0050709248	0.00110	T	.	.	.	0.018	0.03083	.	.	0.0401082797425	0.02173	0.2737607287719573	0.27289	0.0351969744891	0.03713	.	.	.	.	.	.	-0.717521	0.00029	T	-0.802768	0.01834	T	0.0224380385084349	0.00959	T	0.167383	0.01560	T	.	.	.	.	.	.	.	.	-5.272	0.39665	T	.	.	0.192	0.41171	B	.	.	1.981830	0.25175	16.67	0.81203421815851884	0.13570	0.00314	0.01657	N	AEFGI	0.066884	0.13120	N	-0.566139754880559	0.19981	1.049934	-0.863350825191903	0.12966	0.670075	1.89784645244886E-4	0.05844	0.497415	0.19182	0	0.547309	0.14657	0	0.514364	0.09456	0	0.542086	0.14980	0	.	.	0.225	0.225	0.14598	0.305000	0.19006	-0.124000	0.11690	0.454000	0.21428	0.093000	0.22645	0.001000	0.17328	0.009000	0.08673	.	.	.	644	0.63734	.	.	.	.	.	rs138293383	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.025	221.41	9	chr5	151288934	.	C	T	221.41	.	AC=1;AF=0.025;AN=40;BaseQRankSum=0.765;DP=186;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0307;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=24.60;ReadPosRankSum=0.549;SOR=0.859	GT:AD:DP:GQ:PL	0/1:2,7:9:55:235,0,55	19	0	1	1
chr5	154755923	154755923	C	T	exonic	LARP1	.	nonsynonymous SNV	LARP1:NM_001367718:exon1:c.C166T:p.P56S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.001	B	0.004	B	.	.	1.000	D	.	.	1.68	T	-1.082	T	0.042	T	0.165	3.772	19.15	2.51	1.407	1.610	7.357	0.026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.052e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.40068	D	0.445	0.13140	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.68	0.27184	T	0.05	0.06369	N	.	.	-1.0822	0.06927	T	0.042	0.18118	T	8	0.10601449	0.19625	T	.	.	.	0.026	0.05648	0.284	0.24121	0.329044607051	0.32520	.	.	.	.	.	.	.	.	.	.	-0.201157	0.20637	T	-0.526725	0.19615	T	0.194967344403267	0.20134	T	0.49745	0.15470	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11461	B	.	.	2.270022	0.29014	17.99	0.99834063570379428	0.91542	0.33441	0.24829	N	ALL	0.116388	0.22845	N	-0.318288361788739	0.28453	1.569534	-0.256863676600807	0.29535	1.655521	0.999999999999622	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.581474	0.35302	0	.	.	2.51	2.51	0.29435	2.289000	0.43184	0.019000	0.13561	-0.386000	0.05369	0.026000	0.20160	0.192000	0.23504	0.866000	0.41154	0.0:0.7254:0.2746:0.0	7.357	0.25900	909	0.22467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	183.98	26	chr5	154755923	.	C	T	183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=506;ExcessHet=0.0000;FS=1.984;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=-2.110e-01;SOR=1.609	GT:AD:DP:GQ:PL	0/1:12,7:19:99:198,0,301	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	0/1:68,39:117:86:86,0,1140	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	1/1:0,449,0:449:99:.:.:20044,1364,0,20044,1364,20044	0	12	1	0
chr5	160349302	160349302	T	C	exonic	C1QTNF2	.	nonsynonymous SNV	C1QTNF2:NM_031908:exon3:c.A724G:p.K242E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.529	P	0.194	B	0.000	D	0.981	D	0.28	N	1.29	T	-1.067	T	0.057	T	0.416	1.622	11.38	5.14	2.071	3.842	14.930	0.059	0.0110906628681	.	.	8.238e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs770978113	4.104e-06	4.104e-06	2.722e-06	5.5e-06	0.0002	1.48e-06	9.7e-07	9.24e-06	4.56e-06	0	0	0	0	0	0.0002	0	3.311e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.302	0.14400	T	0.285	0.21343	T	.	.	.	.	.	.	0.000236	0.47286	D	0.224065	0.980898	0.39716	D	.	.	.	1.29	0.35775	T	-0.32	0.12283	N	0.472	0.50778	-1.0671	0.10062	T	0.057	0.23828	T	10	0.20980561	0.37355	T	0.011091	0.28353	T	0.059	0.16972	.	.	0.128392430309	0.12331	0.4646196372803165	0.46380	0.160302322173	0.18085	0.559326589108	0.47174	T	.	.	.	-0.251452	0.13921	T	-0.417442	0.31368	T	0.300115913152695	0.25009	T	0.674733	0.28305	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.37369	B	.	.	3.713301	0.53021	23.3	0.99314740584281092	0.59129	0.97294	0.73849	D	AEFBI	0.775736	0.70906	D	0.0195878859818195	0.42747	2.581431	0.17480397136058	0.48471	3.062523	0.973007290041317	0.29418	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	3.105000	0.50005	6.157000	0.54283	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	14.930	0.70549	933	0.16026	.	.	.	.	.	.	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	2096.98	34	chr5	160349302	.	T	C	2096.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.060;DP=889;ExcessHet=0.0000;FS=12.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-1.005e+00;SOR=1.423	GT:AD:DP:GQ:PL	0/1:115,79:194:99:2111,0,3122	20	0	1	0
chr5	170878191	170878191	T	C	exonic	RANBP17	.	nonsynonymous SNV	RANBP17:NM_022897:exon2:c.T113C:p.I38T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.43	B	0.096	B	0.000	D	0.846	D	-0.6	N	-0.25	T	-0.907	T	0.089	T	0.39	-0.382	2.207	5.35	2.016	3.069	9.539	0.096	0.0147988266725	7.7e-05	0.000199681	3.31e-05	0.0003	8.75e-05	0	0	0	0	0	3.88e-05	6	154602	rs143413352	2.806e-05	2.805e-05	2.997e-05	2.615e-05	0.0001	2.088e-05	1.879e-05	5.852e-05	3.76e-05	0.0001	4.479e-05	0	2.524e-05	1.873e-05	0	2.789e-05	0	1.162e-05	0.0001	0.0001	0.0002	0.0001	0.0005	9.737e-05	8.252e-05	0.0003	0.0003	0.0005	0	0	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.01	0.14941	B	0.000215	0.47681	D	0.000000	0.845987	0.35143	D	0.715	0.18665	N	-0.25	0.67011	T	1.88	0.00467	N	0.495	0.52829	-0.9067	0.47250	T	0.089	0.34216	T	10	0.07528779	0.11617	T	0.014799	0.35150	T	0.096	0.27654	.	.	0.646620756021	0.64369	0.21669478757807523	0.21585	0.227534518644	0.25305	0.722744703293	0.70446	T	0.001115	0.00627	T	-0.287486	0.09890	T	-0.296696	0.45071	T	0.0617919960242716	0.07448	T	0.861714	0.55578	D	0.05000279	0.08965	0.08630151	0.19986	0.05000279	0.08964	0.08630151	0.19986	-2.695	0.07261	T	.	.	0.125	0.26325	B	.	.	2.472228	0.31864	18.87	0.44411233724811483	0.03412	0.76181	0.37344	D	AEFBI	0.205744	0.33207	N	-0.326572885451597	0.28142	1.549804	-0.0776599569922123	0.36315	2.111869	0.662579577522408	0.22287	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.35	5.35	0.76297	3.141000	0.50288	5.085000	0.47302	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0798:0.0:0.9202	9.539	0.38405	893	0.26510	Importin-beta, N-terminal domain|Importin-beta, N-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	809.98	33	chr5	170878191	.	T	C	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.120e-01;DP=768;ExcessHet=0.0000;FS=0.893;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.80;ReadPosRankSum=0.059;SOR=0.512	GT:AD:DP:GQ:PL	0/1:41,34:75:99:824,0,1052	20	0	1	0
chr5	177394099	177394099	G	A	exonic	SLC34A1	.	nonsynonymous SNV	SLC34A1:NM_003052:exon10:c.G1078A:p.V360M,	Fanconi renotubular syndrome 2, Autosomal recessive;Hypercalcemia, infantile, 2, Autosomal recessive;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.002	B	0.007	B	0.231	N	0.569	N	1.04	L	1.35	T	-1.050	T	0.061	T	0.136	1.482	10.90	3.11	1.205	0.124	6.346	0.034	0.00748161481612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.091	0.40110	T	0.002	0.09854	B	0.007	0.12992	B	0.230908	0.15923	N	0.611147	0.999987	0.18198	N	1.215	0.30540	L	1.35	0.34648	T	0.31	0.04022	N	0.192	0.21056	-1.0502	0.14341	T	0.061	0.25346	T	10	0.10366598	0.19069	T	0.007482	0.19846	T	0.034	0.08419	0.593	0.72247	0.264547087235	0.26054	0.5423669042601604	0.54161	0.0699051351792	0.07831	0.377948582172	0.21965	T	0.223737	0.58798	T	-0.259757	0.12927	T	-0.610899	0.11911	T	0.0918727532611725	0.11438	T	0.873413	0.58193	D	0.04169156	0.06185	0.06148862	0.11881	0.04169156	0.06185	0.06148862	0.11881	-7.193	0.55431	T	0.1989899871797078	0.26367	0.087	0.11220	B	.	.	2.102936	0.26757	17.23	0.97717825185042562	0.35537	0.12452	0.17277	N	AEFBI	0.115623	0.22726	N	-0.465042802727698	0.23233	1.246177	-0.350614576260845	0.26489	1.463502	0.905945350941191	0.26218	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	5.25	3.11	0.34883	0.151000	0.16101	2.396000	0.32567	0.596000	0.33519	0.182000	0.24089	1.000000	0.68203	0.997000	0.79791	0.226:0.0:0.6326:0.1414	6.346	0.20554	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	0.02381	1301.98	34	chr5	177394099	.	G	A	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.910;DP=860;ExcessHet=0.0000;FS=6.321;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.86;ReadPosRankSum=4.000e-03;SOR=1.186	GT:AD:DP:GQ:PL	0/1:91,56:147:99:1316,0,2382	20	0	1	0
chr5	178252594	178252594	G	T	exonic	COL23A1	.	nonsynonymous SNV	COL23A1:NM_173465:exon17:c.C964A:p.P322T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.54	T	0.137	B	0.246	B	0.000	D	1.000	D	2.12	M	-5.06	D	0.888	D	0.919	D	0.379	1.901	12.31	3.73	2.092	3.506	11.228	0.551	0.207950333987	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.27310	T	0.034	0.52727	D	0.137	0.27402	B	0.246	0.38861	B	0.000162	0.48594	D	0.000000	0.626809	0.32754	D	2.11	0.58565	M	-5.06	0.98629	D	-2.38	0.52451	N	0.361	0.40264	0.888	0.95511	D	0.919	0.97335	D	10	0.43311095	0.57620	T	0.20795	0.87121	D	0.551	0.81427	0.358	0.36060	0.906959738677	0.90602	0.369441228984403	0.36858	0.213200525594	0.23830	0.612247228622	0.54634	T	0.283801	0.65657	T	0.166524	0.70803	D	0.00142358	0.70429	D	0.828960180282593	0.48449	D	0.832517	0.50934	T	0.12555005	0.29429	0.11608895	0.28026	0.12555005	0.29429	0.11608895	0.28025	-10.712	0.78055	D	.	.	0.100	0.19357	B	.;.	.;.	3.430578	0.47680	22.5	0.99200863699130593	0.55261	0.87195	0.46661	D	AEFDBI	0.381184	0.46354	N	-0.049106360900656	0.39642	2.341088	0.018624377113274	0.40579	2.424062	0.998267869525151	0.36664	0.646311	0.45356	0	0.491513	0.07743	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.73	3.73	0.41982	2.445000	0.44558	9.691000	0.81273	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	11.228	0.48122	952	0.10565	.;.	.	.	.	.	.	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	793.98	34	chr5	178252594	.	G	T	793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.023;DP=830;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=1.18;SOR=0.810	GT:AD:DP:GQ:PL	0/1:35,35:70:99:808,0,794	20	0	1	0
chr5	179769084	179769084	G	A	exonic	MAML1	.	nonsynonymous SNV	MAML1:NM_014757:exon3:c.G1966A:p.E656K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.041	B	0.011	B	0.001	D	1.000	D	2.215	M	0.27	T	-0.809	T	0.202	T	0.601	3.761	19.09	4.89	2.257	7.191	17.649	0.184	0.027065426129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252760902	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.698e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.504	0.11041	T	0.003	0.11197	B	0.002	0.06944	B	0.000814	0.41658	D	0.160814	0.99999	0.58761	D	2.375	0.68372	M	0.27	0.59176	T	-2.7	0.57599	D	0.649	0.66016	-0.8093	0.54593	T	0.202	0.55850	T	10	0.45849344	0.59138	T	0.027065	0.49920	D	0.184	0.45763	0.262	0.20631	0.387796008065	0.38391	0.39795397681723466	0.39710	0.152956754088	0.17256	0.750826895237	0.74568	T	0.75889	0.93452	D	0.0426929	0.57396	T	-0.176451	0.56850	T	0.904676198959351	0.55820	D	.	.	.	0.2447524	0.47427	0.22296095	0.47158	0.2447524	0.47427	0.22296095	0.47157	-10.374	0.76120	D	.	.	0.816	0.78022	P	.	.	3.853027	0.55833	23.7	0.99803751184160661	0.88817	0.90208	0.51205	D	AEFBHCI	0.806448	0.73075	D	0.0776111662819309	0.45419	2.798797	0.224137723799962	0.51191	3.303708	0.999999999990924	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.89	4.89	0.63387	7.303000	0.78192	11.336000	0.92548	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.0:1.0:0.0	17.649	0.88061	883	0.28872	.	.	.	.	.	.	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	930.98	35	chr5	179769084	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=798;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=1.08;SOR=0.717	GT:AD:DP:GQ:PL	0/1:41,35:76:99:945,0,1122	20	0	1	0
chr6	4069571	4069571	A	G	exonic	FAM217A	.	nonsynonymous SNV	FAM217A:NM_173563:exon7:c.T652C:p.Y218H,	.	.	.	.	.	.	.	.	.	.	.	3256330	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.013	B	0.016	B	0.000	D	0.994	N	1.935	M	1.87	T	-1.093	T	0.033	T	0.327	0.918	8.739	5.31	2.234	2.823	11.586	0.050	0.00415247694856	.	.	8.247e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs778469858	2.189e-05	2.189e-05	1.361e-05	3.026e-05	0.0003	1.584e-05	1.356e-05	6.094e-05	2.522e-05	2.99e-05	0	0	0	0	0.0003	2.248e-05	3.312e-05	2.32e-05	6.569e-05	6.567e-05	6.423e-05	6.723e-05	0.0001	3.516e-05	2.616e-05	5.841e-05	4.238e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.107	0.29554	T	0.005	0.72224	D	0.013	0.16609	B	0.016	0.17743	B	0.000286	0.46274	D	0.147560	0.993622	0.23678	N	2.175	0.60977	M	1.87	0.24085	T	-1.6	0.38540	N	0.282	0.31925	-1.0933	0.05005	T	0.033	0.13986	T	10	0.18628287	0.34086	T	0.004152	0.09963	T	0.050	0.13987	.	.	0.28492961333	0.28089	0.20079382852743052	0.19996	0.0388524479143	0.04135	0.420142918825	0.27855	T	0.038861	0.24988	T	-0.305857	0.08118	T	-0.491215	0.23263	T	0.0855963734484687	0.10687	T	0.577142	0.20757	T	0.07570345	0.17072	0.095219634	0.22572	0.07570345	0.17071	0.095219634	0.22572	-3.505	0.16501	T	.	.	0.141	0.32945	B	.;.	.;.	2.515310	0.32491	19.06	0.97746318049431169	0.35714	0.85094	0.44199	D	AEDGI	0.557464	0.56708	D	-0.121827735473787	0.36442	2.106571	-0.0127097399122566	0.39139	2.316201	0.99999482533293	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.31	5.31	0.75063	2.803000	0.47620	7.729000	0.67687	-0.041000	0.17446	0.965000	0.33920	1.000000	0.68203	0.390000	0.26558	1.0:0.0:0.0:0.0	11.586	0.50176	634	0.64659	.;.	.	.	.	.	.	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	2743.98	37	chr6	4069571	.	A	G	2743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.601;DP=1049;ExcessHet=0.0000;FS=1.065;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-1.490e-01;SOR=0.677	GT:AD:DP:GQ:PL	0/1:103,106:209:99:2758,0,2661	20	0	1	0
chr6	4099092	4099092	C	A	exonic	C6orf201	.	nonsynonymous SNV	C6orf201:NM_001085401:exon3:c.C178A:p.P60T,	.	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.879	P	0.399	B	0.953	N	1.000	N	0.975	L	1.26	T	-1.043	T	0.029	T	0.212	2.496	14.31	0.801	0.325	0.260	3.308	0.026	0.00953462386185	0.0003	0.000599042	0.0002	0	0.0004	0	0	0.0003	0	0.0003	0.0002199	34	154602	rs200932959	0.0002	0.0002	0.0002	0.0002	0.0012	0.0002	0.0002	0.0006	0.0004	5.974e-05	0.0003	0	0	3.744e-05	0.0012	0.0002	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0001	0.0001	0.0002	0.0002	2.409e-05	0	0.0003	0	0	0	0	0.0003	0.0005	0.0004	0.073	0.34800	T	0.0	0.92824	D	0.879	0.48338	P	0.399	0.44455	B	0.953418	0.08272	N	0.973510	1	0.08975	N	1.2	0.30300	L	1.26	0.36330	T	-5.17	0.83489	D	0.33	0.37093	-1.0432	0.16354	T	0.029	0.12541	T	10	0.052610695	0.05321	T	0.009535	0.24947	T	0.026	0.05648	.	.	0.188950314367	0.18478	0.2666764266578253	0.26580	0.339956898807	0.35944	.	.	.	0.031319	0.21988	T	-0.450482	0.01122	T	-0.578886	0.14644	T	0.143790796399117	0.16597	T	0.712529	0.32403	T	0.0916935	0.21493	0.15363383	0.36093	0.0916935	0.21493	0.15363383	0.36092	-3.282	0.13506	T	.	.	0.191	0.41031	B	.	.	0.321944	0.06964	3.514	0.99152508573345788	0.53848	0.02524	0.07029	N	AEFI	0.046813	0.07816	N	-0.648771507567459	0.17496	0.9008111	-0.782844452092113	0.14915	0.781853	3.01741604098929E-4	0.06454	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.02	0.801	0.17822	0.262000	0.18229	-0.099000	0.11964	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.062000	0.16114	0.1685:0.4108:0.3279:0.0928	3.308	0.06593	735	0.53711	.	.	.	.	.	.	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	963.98	40	chr6	4099092	.	C	A	963.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.400e-01;DP=782;ExcessHet=0.0000;FS=5.467;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.83;ReadPosRankSum=-1.679e+00;SOR=1.194	GT:AD:DP:GQ:PL	0/1:50,39:89:99:978,0,1340	20	0	1	0
chr6	7414350	7414350	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon16:c.G1244A:p.R415H	.	.	430	1039	50	3	0	56	0.0262418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.001	B	0.001	B	0.594	N	1.000	N	-0.345	N	3.33	T	-0.914	T	0.003	T	0.107	2.018	12.71	-3.49	-0.569	-0.383	11.651	0.039	.	0.0076	0.0061901	0.0086	0.0016	0.0034	0.0001	0.0116	0.0094	0.0122	0.0165	0.0081241	1256	154602	rs56160149	0.0100	0.0100	0.0097	0.0102	0.0193	0.0098	0.0098	0.0185	0.0182	0.0015	0.0037	0.0044	5.043e-05	0.0103	0.0186	0.0102	0.0097	0.0193	0.0075	0.0075	0.0071	0.0078	0.0185	0.0071	0.0070	0.0154	0.0142	0.0020	0	0.0043	0.0049	0.0002	0.0127	0.0204	0.0106	0.0100	0.0185	0.266	0.16251	T	0.256	0.23298	T	0.001	0.07471	B	0.001	0.04355	B	0.593928	0.05607	N	1.421560	1	0.08975	N	0.34	0.10450	N	3.33	0.06138	T	-1.85	0.43334	N	0.101	0.08366	-0.9141	0.46338	T	0.003	0.00994	T	10	0.0030825436	0.00051	T	.	.	.	0.039	0.10176	.	.	0.139678290688	0.13603	0.028634318525073733	0.02813	0.216403637423	0.24162	0.187236070633	0.00180	T	0.018689	0.15024	T	-0.704744	0.00034	T	-0.770812	0.02741	T	0.010509738622555	0.00146	T	0.531747	0.17685	T	0.017672015	0.00293	0.028782748	0.01148	0.017672015	0.00293	0.028782748	0.01148	-4.241	0.27341	T	.	.	0.055	0.00375	B	.	.	-0.388696	0.02254	0.232	0.83854462349201608	0.14957	0.01415	0.04780	N	AEFBI	0.031459	0.03370	N	-1.21082851355945	0.04841	0.2193715	-1.21036202125596	0.05743	0.2744785	0.943901780032789	0.27591	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.58	-3.49	0.04424	-0.244000	0.08921	-1.164000	0.06144	-0.899000	0.02337	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.7541:0.0:0.2459:0.0	11.651	0.50548	668	0.61153	.	BMP6	Brain_Nucleus_accumbens_basal_ganglia	.	.	rs56160149	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	1914.98	37	chr6	7414350	.	G	A	1914.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.287e+00;DP=824;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.20;ReadPosRankSum=1.12;SOR=0.667	GT:AD:DP:GQ:PL	0/1:51,75:126:99:1929,0,1309	20	0	1	0
chr6	7910640	7910640	-	CCG	exonic	TXNDC5	.	nonframeshift insertion	TXNDC5:NM_030810:exon1:c.136_137insCGG:p.A46_D47insA,	.	.	395	1069	37	2	19	60	0.018816	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2496.04	37	chr6	7910637	.	TCCG	T,TCCGCCG	2496.04	.	AC=1,1;AF=0.024,0.024;AN=42;DP=833;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;QD=29.72;SOR=1.054	GT:AD:DP:GQ:PL	1/2:0,29,40:69:99:2527,1623,2153,916,0,797	20	0	0	0
chr6	10529666	10529666	C	G	exonic	GCNT2	.	nonsynonymous SNV	GCNT2:NM_001374747:exon1:c.C755G:p.T252S	Adult i phenotype without cataract, Autosomal dominant;Cataract 13 with adult i phenotype, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.001	B	0.004	B	0.893	N	1.000	N	0.185	N	3.07	T	-0.934	T	0.004	T	0.409	-1.194	0.076	0.403	0.330	0.079	13.825	0.060	0.00652515274642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.951	0.02610	T	0.001	0.07471	B	0.004	0.10090	B	0.893187	0.08672	N	0.951422	1	0.20447	N	0.485	0.13215	N	3.07	0.08547	T	-0.58	0.17417	N	0.067	0.03956	-0.9340	0.43545	T	0.004	0.01400	T	10	0.048454374	0.04299	T	0.006525	0.17186	T	0.060	0.17295	0.336	0.32491	0.194818534648	0.19098	0.2530740185115203	0.25221	0.0141364147279	0.01346	.	.	.	0.002878	0.02278	T	-0.226189	0.17155	T	-0.562682	0.16125	T	0.0236435923725367	0.01101	T	.	.	.	0.24652538	0.47622	0.11316231	0.27308	0.24652538	0.47622	0.11316231	0.27307	-2.862	0.08769	T	.	.	0.073	0.04806	B	.;.	.;.	0.720382	0.10892	7.566	0.62962044084073843	0.07098	0.06188	0.12173	N	ALL	.	.	.	-1.22153949386916	0.04689	0.2121393	-1.16116086566126	0.06569	0.3166597	0.999999997513051	0.74766	0.615465	0.37627	0	0.484254	0.07192	0	0.658983	0.55881	0	0.563494	0.21769	0	.	.	5.7	0.403	0.15569	-0.030000	0.12257	0.012000	0.13456	-0.227000	0.07798	0.000000	0.06391	0.000000	0.08366	0.794000	0.37478	0.0:0.6264:0.3096:0.064	13.825	0.62839	846	0.36215	.;.	.	.	.	.	.	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	0.03571	55.0	113	chr6	10529666	.	C	G	55.0	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-5.026e+00;DP=2018;ExcessHet=0.0000;FS=160.935;InbreedingCoeff=-0.1200;MLEAC=1;MLEAF=0.036;MQ=60.00;MQRankSum=0.00;QD=0.32;ReadPosRankSum=2.15;SOR=7.864	GT:AD:DP:GQ:PL	0/1:136,34:186:66:66,0,2836	13	0	1	7
chr6	16327687	16327687	-	TGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCA:p.Q208_H209insQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	2/4:2,0,13,0,22,0:37:99:1649,1704,2350,809,1366,1633,1704,2350,1366,2350,743,1070,0,1070,1120,1294,1672,906,1672,868,1772	9	0	3	0
chr6	16327687	16327687	-	TGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCA:p.Q208_H209insQ	Spinocerebellar ataxia 1, Autosomal dominant	.	17	803	243	34	425	736	0.162233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	2/4:2,0,13,0,22,0:37:99:1649,1704,2350,809,1366,1633,1704,2350,1366,2350,743,1070,0,1070,1120,1294,1672,906,1672,868,1772	9	0	3	0
chr6	16327687	16327687	-	TGCTGCTGCTGC	exonic	ATXN1	.	nonframeshift insertion	ATXN1:NM_001128164:exon7:c.623_624insGCAGCAGCAGCA:p.Q208_H209insQQQQ	Spinocerebellar ataxia 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	16693.27	58	chr6	16327684	.	ATGC	A,CTGC,ATGCTGCTGCTGC,ATGCTGC,ATGCTGCTGCTGCTGC	16693.27	.	AC=4,4,1,4,1;AF=0.095,0.095,0.024,0.095,0.024;AN=42;BaseQRankSum=1.23;DP=1584;ExcessHet=2.0984;FS=2.489;InbreedingCoeff=-0.0714;MLEAC=4,4,1,4,1;MLEAF=0.095,0.095,0.024,0.095,0.024;MQ=59.96;MQRankSum=0.00;QD=24.88;ReadPosRankSum=0.974;SOR=0.909	GT:AD:DP:GQ:PL	2/4:2,0,13,0,22,0:37:99:1649,1704,2350,809,1366,1633,1704,2350,1366,2350,743,1070,0,1070,1120,1294,1672,906,1672,868,1772	9	0	3	0
chr6	17130821	17130821	A	C	exonic	STMND1	.	nonsynonymous SNV	STMND1:NM_001190766:exon5:c.A771C:p.E257D,	.	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0144413437591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.445e-06	1.368e-06	1.427e-06	1.465e-06	0.0002	2.4e-07	9e-08	.	.	0	0	0	0	0	0.0002	0	1.727e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.17014	T	0.426	0.13872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.895	0.22405	L	.	.	.	-1.36	0.33798	N	0.046	0.01825	.	.	.	.	.	.	.	0.06487301	0.08669	T	0.014441	0.34558	T	.	.	.	.	0.1749357433	0.17121	0.024201808120299793	0.02371	.	.	0.307710081339	0.11561	T	0.023834	0.18124	T	-0.274935	0.11213	T	-0.632701	0.10211	T	.	.	.	0.444256	0.12390	T	0.07296106	0.16269	0.06901265	0.14488	0.07296106	0.16268	0.06901265	0.14487	-3.099	0.11285	T	.	.	0.105	0.19114	B	.	.	1.325440	0.17300	13.08	0.98645679859077118	0.44110	0.09167	0.14977	N	AEFGBHCI	0.087023	0.17644	N	.	.	.	.	.	.	0.00171064215194114	0.08799	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.43	3.01	0.33872	0.149000	0.16062	0.776000	0.21438	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.459000	0.28096	0.7354:0.1762:0.0884:0.0	5.418	0.15681	898	0.25240	.	.	.	.	.	.	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	2012.98	37	chr6	17130821	.	A	C	2012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.985e+00;DP=870;ExcessHet=0.0000;FS=8.369;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.24;ReadPosRankSum=-1.065e+00;SOR=0.611	GT:AD:DP:GQ:PL	0/1:70,82:152:99:2027,0,1860	20	0	1	0
chr6	17628828	17628828	T	C	exonic	NUP153	.	nonsynonymous SNV	NUP153:NM_001278210:exon17:c.A3245G:p.N1082S	.	.	431	1072	19	0	0	19	0.0087841	.	.	2822731	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.003	B	0.383	N	1.000	N	0.11	N	3.31	T	-0.928	T	0.003	T	0.01	-0.971	0.307	-9.73	-1.804	-1.730	19.019	0.129	0.00372501032863	0.0031	0.000998403	0.0032	0.0004	0.0026	0.0001	0.0005	0.0046	0.0044	0.0022	0.003357	519	154602	rs144294630	0.0039	0.0039	0.0039	0.0040	0.0106	0.0039	0.0038	0.0085	0.0077	0.0009	0.0030	0.0137	5.038e-05	0.0010	0.0106	0.0042	0.0043	0.0023	0.0029	0.0029	0.0030	0.0028	0.0044	0.0027	0.0026	0.0040	0.0038	0.0005	0	0.0030	0.0141	0.0002	0.0004	0.0034	0.0044	0.0052	0.0017	0.423	0.09746	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.382846	0.13365	N	0.674189	1	0.08975	N	0.085	0.08345	N	3.3	0.06368	T	0.28	0.04306	N	0.074	0.07535	-0.9277	0.44473	T	0.003	0.00800	T	10	0.0024119318	0.00036	T	0.003725	0.08620	T	0.129	0.35316	.	.	0.271610670623	0.26767	0.05103344314998862	0.05045	0.0282340528876	0.02900	0.236846446991	0.02513	T	0.004114	0.03522	T	-0.749519	0.00018	T	-0.847074	0.00998	T	0.00716807550357163	0.00082	T	0.756624	0.37993	T	0.03424561	0.03807	0.042741608	0.05158	0.03424561	0.03806	0.042741608	0.05158	-2.106	0.03706	T	.	.	0.050	0.00428	B	.;.;.	.;.;.	-1.453658	0.00324	0.006	0.27025534305295745	0.01322	0.05944	0.11901	N	AEFBI	0.046642	0.07767	N	-1.83226928420262	0.00471	0.02026495	-1.84785028728836	0.00618	0.02745483	0.999892360678897	0.45129	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.57	-9.73	0.00427	-1.309000	0.02836	-6.274000	0.01445	-0.780000	0.03343	0.000000	0.06391	0.000000	0.08366	0.978000	0.57271	0.0:0.6485:0.0:0.3515	19.019	0.92885	478	0.77585	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1376.98	33	chr6	17628828	.	T	C	1376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.690e-01;DP=832;ExcessHet=0.0000;FS=2.360;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.021;SOR=0.483	GT:AD:DP:GQ:PL	0/1:67,54:121:99:1391,0,1861	20	0	1	0
chr6	17834062	17834062	C	T	exonic	KIF13A	.	nonsynonymous SNV	KIF13A:NM_001105566:exon12:c.G1165A:p.A389T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.934	P	0.642	P	0.000	D	1.000	D	0.6	N	-0.63	T	-0.815	T	0.203	T	0.616	4.617	25.2	5.62	2.639	7.776	19.672	0.269	0.0399943940101	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1452000005	7.064e-07	7.531e-06	0	1.419e-06	9.149e-07	0	0	.	.	0	0	0	0	0	0	9.149e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	0.16144	T	0.464	0.13912	T	0.934	0.52202	P	0.517	0.52168	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.32	0.33002	L	-0.63	0.72125	T	-1.65	0.39503	N	0.434	0.49146	-0.8145	0.54275	T	0.203	0.56031	T	10	0.2964295	0.47208	T	0.039994	0.59127	D	0.269	0.58381	0.183	0.09131	0.409337501531	0.40548	0.6612699681032546	0.66063	0.512778458504	0.49301	0.762370824814	0.76282	T	0.019713	0.15652	T	0.0651563	0.60254	T	-0.144184	0.59753	T	0.822717905044556	0.47975	D	0.866613	0.57273	D	0.2225743	0.44859	0.22889775	0.47945	0.2225743	0.44859	0.22889775	0.47944	-8.522	0.64647	D	.	.	0.235	0.65850	B	.;.;.;.;.	.;.;.;.;.	4.140686	0.62030	24.4	0.99861159657454024	0.94002	0.98360	0.81988	D	AEFBI	0.908276	0.86338	D	0.177284286709842	0.50109	3.204167	0.353092635159353	0.58693	4.04152	0.999999999999945	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.62	5.62	0.85714	5.012000	0.63775	5.974000	0.52050	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.672	0.95909	594	0.68584	.;.;.;.;.	.	.	.	.	.	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	30.64	48	chr6	17834062	.	C	T	30.64	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.679e+00;DP=1181;ExcessHet=0.1072;FS=281.700;InbreedingCoeff=-0.0471;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=0.879;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,11:69:9:0|1:17834062_C_T:9,0,1985:17834062	19	0	2	0
chr6	17834063	17834063	C	G	exonic	KIF13A	.	nonsynonymous SNV	KIF13A:NM_001105566:exon12:c.G1164C:p.K388N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.999	D	0.961	D	0.000	D	1.000	D	1.78	L	-0.69	T	-0.384	T	0.332	T	0.23	3.631	18.47	3.84	1.373	1.221	8.883	0.247	0.0686083631907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.44694	D	0.049	0.49120	D	0.999	0.77913	D	0.961	0.70482	D	0.000000	0.84330	D	0.000000	0.999921	0.51308	D	1.955	0.52871	M	-0.69	0.72785	T	-3.33	0.66206	D	0.554	0.61511	-0.3841	0.72524	T	0.332	0.69952	T	10	0.37474382	0.53745	T	0.068608	0.70499	D	0.247	0.55478	0.263	0.20788	0.73115622728	0.72876	0.738330941809585	0.73778	0.942097086966	0.72248	0.856371760368	0.90572	D	0.181262	0.53288	T	-0.0557371	0.43570	T	-0.317839	0.42812	T	0.987234175205231	0.77770	D	0.928207	0.73493	D	0.54704165	0.69790	0.3287603	0.58762	0.54704165	0.69791	0.3287603	0.58761	-9.018	0.67826	D	.	.	0.779	0.86668	P	.;.;.;.;.	.;.;.;.;.	3.242571	0.44271	21.9	0.99861958421083385	0.94002	0.93140	0.57430	D	AEFBI	0.509592	0.53899	D	0.268245999491333	0.54547	3.619969	0.289182497646197	0.54906	3.65448	0.992618420883153	0.32904	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.62	3.84	0.43422	0.696000	0.25220	1.117000	0.24210	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.997000	0.79791	0.0:0.7779:0.0:0.2221	8.883	0.34546	594	0.68584	.;.;.;.;.	.	.	.	.	.	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	30.65	48	chr6	17834063	.	C	G	30.65	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.904e+00;DP=1170;ExcessHet=0.1072;FS=281.700;InbreedingCoeff=-0.0472;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.22;ReadPosRankSum=1.01;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,11:69:9:0|1:17834062_C_T:9,0,1985:17834062	19	0	2	0
chr6	26458701	26458701	T	A	exonic	BTN2A1	.	nonsynonymous SNV	BTN2A1:NM_001197234:exon2:c.T65A:p.L22Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.93	P	0.564	P	0.880	N	1.000	N	2.76	M	-0.82	T	-0.631	T	0.341	T	0.466	2.294	13.63	-2.59	-0.524	-0.057	4.006	0.429	0.0783668730078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.026	0.46910	D	0.027	0.76473	D	0.93	0.51791	P	0.483	0.47159	P	0.879544	0.07226	N	1.096500	1	0.08975	N	3.205	0.89189	M	-0.82	0.81318	T	-2.18	0.54864	N	0.44	0.57348	-0.6307	0.63541	T	0.341	0.70721	T	10	0.42795688	0.57300	T	0.078367	0.72989	D	0.429	0.73590	0.555	0.67271	0.578230335649	0.57492	0.4485233774189132	0.44770	0.298700661249	0.32248	0.341032385826	0.16593	T	0.011326	0.10120	T	0.0192167	0.54277	T	-0.210173	0.53679	T	0.461119383573532	0.31206	T	0.847215	0.52823	T	0.13195494	0.30741	0.14021261	0.33430	0.13195494	0.30741	0.14021261	0.33429	-6.617	0.51183	T	.	.	0.113	0.28261	B	.;.;.	.;.;.	2.062178	0.26218	17.04	0.97318544975507326	0.33365	0.03273	0.08313	N	AEFDGBHCI	0.041468	0.06309	N	-0.505589248458141	0.21898	1.165535	-0.810421965312858	0.14243	0.7432285	0.999991594296856	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.03	-2.59	0.05847	-0.092000	0.11094	0.300000	0.16968	0.519000	0.23678	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.2418:0.3507:0.4075	4.006	0.09092	654	0.62520	Immunoglobulin-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	1	0	0	0	0.02381	1408.98	37	chr6	26458701	.	T	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.379e+00;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.81;MQRankSum=0.00;QD=15.15;ReadPosRankSum=0.016;SOR=0.664	GT:AD:DP:GQ:PL	0/1:39,54:93:99:1423,0,1085	20	0	1	0
chr6	26545468	26545468	G	A	exonic	HMGN4	.	nonsynonymous SNV	HMGN4:NM_006353:exon2:c.G262A:p.D88N,	.	.	428	1082	12	0	0	12	0.00551471	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.284	B	0.218	B	0.000	D	0.972	N	.	.	.	.	-1.006	T	0.074	T	0.022	3.728	18.93	3.83	2.416	4.169	14.028	0.149	.	0.0047	0.0105831	0.0057	0.0143	0.0022	0.0075	0	0.0009	0.0049	0.0312	0.0049999	773	154602	rs34511704	0.0025	0.0026	0.0019	0.0032	0.0262	0.0025	0.0024	0.0253	0.0249	0.0120	0.0025	4.454e-05	0.0043	3.881e-05	0.0070	0.0006	0.0042	0.0262	0.0057	0.0057	0.0053	0.0061	0.0292	0.0054	0.0053	0.0253	0.0238	0.0138	0.0110	0.0032	0	0.0042	0	0.0034	0.0009	0.0052	0.0292	0.023	0.48186	D	0.052	0.47581	T	0.284	0.32165	B	0.218	0.37679	B	0.000005	0.62929	D	0.000000	0.97212	0.25618	N	.	.	.	.	.	.	-3.94	0.73378	D	0.191	0.20925	-1.0059	0.28186	T	0.074	0.29770	T	8	0.0047082305	0.00099	T	.	.	.	0.149	0.39377	.	.	0.229543500084	0.22568	0.12692977292968816	0.12618	0.592345308843	0.54628	0.386521339417	0.23178	T	0.27839	0.65104	T	-0.260621	0.12828	T	-0.612141	0.11812	T	0.0685672644446638	0.08448	T	0.857514	0.54691	D	0.33108982	0.55559	0.31346735	0.57343	0.33108982	0.55559	0.31346735	0.57343	-6.869	0.53070	T	.	.	0.096	0.15475	B	.	.	3.571292	0.50303	22.9	0.99899455706022633	0.97199	0.91555	0.53775	D	AEFBCI	0.364117	0.45278	N	-0.0508662545877477	0.39563	2.335146	-0.0386817125047097	0.37985	2.23153	0.999815831251024	0.43459	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.83	3.83	0.43287	4.447000	0.59762	3.842000	0.40046	0.676000	0.76740	1.000000	0.71638	0.995000	0.32472	0.997000	0.79791	0.0:0.0:1.0:0.0	14.028	0.64118	567	0.70732	.	.	.	.	.	.	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	3653.11	41	chr6	26545468	.	G	A	3653.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.689;DP=1147;ExcessHet=0.1072;FS=1.295;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.150;SOR=0.773	GT:AD:DP:GQ:PL	0/1:98,90:188:99:2144,0,2381	19	0	2	0
chr6	27957298	27957298	C	G	exonic	OR2B6	.	nonsynonymous SNV	OR2B6:NM_012367:exon1:c.C58G:p.R20G,	.	.	424	1091	7	0	0	7	0.00319781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.353	B	0.157	B	0.610	U	1.000	N	1.23	L	5.38	T	-0.898	T	0.002	T	0.287	0.768	8.058	3.05	0.907	0.219	5.479	0.028	.	0.0006	0.00998403	0.0054	0.0009	0.0004	0.0093	0	0.0002	0.0044	0.0331	0.004877	754	154602	rs150850606	0.0026	0.0026	0.0016	0.0036	0.0349	0.0025	0.0025	0.0339	0.0335	0.0010	0.0004	0	0.0055	0	0.0036	0.0002	0.0045	0.0349	0.0022	0.0022	0.0013	0.0032	0.0504	0.0020	0.0019	0.0452	0.0432	0.0010	0	6.54e-05	0	0.0064	0	0	0.0002	0.0033	0.0504	0.021	0.49117	D	0.244	0.24123	T	0.353	0.33698	B	0.157	0.34536	B	0.609690	0.10879	U	0.689868	0.999958	0.19072	N	1.43	0.35840	L	5.38	0.01033	T	-4.1	0.74900	D	0.085	0.06190	-0.8977	0.48224	T	0.002	0.00526	T	10	0.0022549927	0.00033	T	.	.	.	0.028	0.06331	.	.	0.275215494804	0.27121	0.3425048101534829	0.34163	0.123300978965	0.13890	0.182806894183	0.00122	T	0.094839	0.39497	T	-0.57761	0.00199	T	-0.580161	0.14530	T	0.019914893059643	0.00692	T	0.0368963	0.00256	T	0.24605127	0.47570	0.25376707	0.51030	0.24605127	0.47570	0.25376707	0.51030	-10.698	0.77976	D	.	.	0.165	0.36475	B	.	.	2.493447	0.32177	18.96	0.9869077426091637	0.44752	0.24863	0.22524	N	AEFGBI	0.115878	0.22766	N	-0.456082648638188	0.23534	1.264502	-0.473239551149825	0.22894	1.245783	0.0726778210527276	0.15609	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.93	3.05	0.34272	-0.511000	0.06404	-4.993000	0.01895	0.596000	0.33519	0.000000	0.06391	0.000000	0.08366	0.960000	0.51673	0.2007:0.6919:0.0:0.1074	5.479	0.16004	481	0.77356	.	.	.	.	.	.	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	4268.11	33	chr6	27957298	.	C	G	4268.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.07;DP=989;ExcessHet=0.1072;FS=3.147;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-2.020e-01;SOR=0.884	GT:AD:DP:GQ:PL	0/1:91,76:167:99:2019,0,2450	19	0	2	0
chr6	29673620	29673620	C	T	exonic	ZFP57	.	nonsynonymous SNV	ZFP57:NM_001366333:exon4:c.G275A:p.R92Q	Diabetes mellitus, transient neonatal, 1	.	0	1503	19	0	0	19	0.00628099	.	.	299746	Transitory_neonatal_diabetes_mellitus|Diabetes_mellitus,_transient_neonatal,_1|not_provided|Monogenic_diabetes	Human_Phenotype_Ontology:HP:0008255,MONDO:MONDO:0020525,MedGen:C0342273|MONDO:MONDO:0011073,MedGen:C1832386,OMIM:601410,Orphanet:99886|MedGen:C3661900|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.65	T	0.0	B	0.0	B	0.621	N	1.000	N	0.345	N	3.71	T	-0.914	T	0.002	T	0.028	-0.680	1.037	-3.73	-1.298	0.162	3.284	0.010	.	0.0011	0.0139776	0.0068	0.0039	0.0018	0.0106	0	0.0003	0.0047	0.0378	0.0059702	923	154602	rs200541066	0.0032	0.0032	0.0021	0.0043	0.0398	0.0031	0.0031	0.0387	0.0382	0.0049	0.0021	3.832e-05	0.0062	3.825e-05	0.0049	0.0003	0.0061	0.0398	0.0037	0.0037	0.0028	0.0047	0.0599	0.0034	0.0033	0.0542	0.0520	0.0040	0	0.0026	0	0.0060	0	0.0034	0.0004	0.0033	0.0599	0.366	0.11696	T	0.716	0.08777	T	0.0	0.02946	B	0.0	0.01387	B	0.620697	0.10781	N	0.753424	1	0.08975	N	.	.	.	3.5	0.05014	T	0.22	0.07444	N	0.034	0.01068	-0.9143	0.46311	T	0.002	0.00738	T	10	0.0022684336	0.00033	T	.	.	.	0.010	0.01040	.	.	0.0846915920261	0.08053	0.07343996282041032	0.07280	0.484552586258	0.47362	0.288189262152	0.08659	T	0.033722	0.23030	T	-0.777633	0.00011	T	-0.86403	0.00801	T	0.00256213137071298	0.00027	T	0.580242	0.20999	T	0.02677811	0.01780	0.044516083	0.05784	0.03501257	0.04041	0.045016915	0.05964	-3.44	0.15683	T	.	.	0.109	0.26514	B	.;.;.	.;.;.	0.104313	0.05051	1.595	0.67320172402372191	0.08319	0.02443	0.06880	N	AEFBI	0.116802	0.22908	N	-2.34229440237499	0.00036	0.001566646	-2.35604353455089	0.00050	0.002183283	0.978084408889132	0.29885	0.533608	0.22052	0	0.610034	0.51514	0	0.685742	0.62368	0	0.542086	0.14980	0	.	.	3.36	-3.73	0.04112	0.248000	0.17971	.	.	-1.957000	0.00479	0.000000	0.06391	0.007000	0.19602	0.020000	0.11549	0.0874:0.3646:0.1792:0.3687	3.284	0.06518	856	0.34373	.;.;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.04762	2160.11	42	chr6	29673620	.	C	T	2160.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.174;DP=933;ExcessHet=0.1072;FS=6.205;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.670;SOR=1.103	GT:AD:DP:GQ:PL	0/1:51,41:92:99:1056,0,1397	19	0	2	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|2:99,0,33:132:99:0|1:29942911_A_G:1088,1386,5543,0,4157,4058:29942911	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	0|2:68,0,18:86:99:0|1:29942911_A_G:551,756,3611,0,2855,2801:29942911	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|2:68,0,18:86:99:0|1:29942911_A_G:551,756,3611,0,2855,2801:29942911	11	1	1	5
chr6	29943466	29943466	G	C	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon3:c.G542C:p.R181T	.	.	0	1519	3	0	0	3	0.000986518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.995	D	0.083	U	1.000	N	4.355	H	5.5	T	-1.074	T	0.011	T	0.65	1.913	12.36	-0.246	0.043	0.617	5.655	0.116	0.00231275347764	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs41551921	0.0015	0.0018	0.0014	0.0016	0.0263	0.0014	0.0014	0.0241	0.0233	0.0040	0.0021	0.0049	0.0263	0.0004	0.0020	0.0005	0.0021	0.0034	0.0031	0.0058	0.0033	0.0029	0.0111	0.0027	0.0026	0.0060	0.0050	0.0065	0	0.0034	0.0067	0.0111	0.0002	0	0.0014	0	0.0082	0.0	0.91255	D	0.017	0.60337	D	0.368	0.70673	B	0.553	0.83170	P	0.083090	0.20772	U	0.195532	1	0.08975	N	.	.	.	5.5	0.00921	T	-4.95	0.83899	D	0.2	0.22098	-1.0740	0.08556	T	0.011	0.03996	T	10	0.062769085	0.08077	T	0.002313	0.04452	T	0.116	0.32463	.	.	0.521173705876	0.51762	0.4237482673628714	0.42291	0.322994502103	0.34468	0.362238705158	0.19712	T	0.043031	0.26373	T	-0.0288615	0.47583	T	-0.279234	0.46883	T	0.722275290186976	0.41814	D	0.652235	0.26282	T	0.5382447	0.69298	0.7803431	0.87051	0.5382447	0.69299	0.7803431	0.87051	-9.925	0.73461	D	.	.	0.186	0.42273	B	.;.;.;.;.	.;.;.;.;.	2.707049	0.35375	19.88	0.77730205563054477	0.11998	0.07489	0.13505	N	AEFDBHCI	0.507271	0.53764	D	-0.181667386017008	0.33899	1.928515	-0.509230914232592	0.21901	1.187048	0.999998772710174	0.74766	0.72623	0.87236	0	0.52208	0.09955	0	0.594344	0.31042	0	0.657601	0.63696	0	.	.	3.78	-0.246	0.12380	0.575000	0.23431	.	.	-1.064000	0.01611	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2536:0.1541:0.5923:0.0	5.655	0.16914	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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	82.98	168	chr6	29943466	.	G	C	82.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.940e-01;DP=3450;ExcessHet=0.0000;FS=13.104;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.36;MQRankSum=-7.703e+00;QD=0.47;ReadPosRankSum=-1.931e+00;SOR=1.683	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,14:177:97:0|1:29943462_T_C:97,0,6759:29943462	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|1:87,33,0:120:99:0|1:29943530_G_A:1124,0,3512,1386,3611,4997:29943530	6	0	13	1
chr6	29944131	29944131	A	G	exonic	HLA-A	.	nonsynonymous SNV	HLA-A:NM_001242758:exon4:c.A629G:p.K210R	.	.	2	1498	22	0	0	22	0.0072896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.526	P	0.418	B	0.888	N	1.000	N	2.1	M	2.54	T	-0.942	T	0.021	T	0.439	0.502	6.722	-0.57	0.135	-0.147	4.153	0.061	0.00132195622806	.	0.00359425	0.0001	0.0005	0.0002	0	0	0.0001	0	0	0.0014984	39	26028	rs41557315	3.617e-05	0.0003	3.322e-05	3.916e-05	0.0002	2.809e-05	2.543e-05	3.157e-05	1.853e-05	9.213e-05	9.255e-05	0.0003	0	0	0.0002	2.731e-05	3.393e-05	4.683e-05	0.0002	0.0015	0.0003	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0003	0	0.0002	0.0019	0	0	0	0.0002	0	0	0.009	0.57480	D	0.018	0.60337	D	0.0	0.37632	B	0.008	0.45020	B	0.887501	0.07274	N	1.089720	1	0.08975	N	.	.	.	2.54	0.13916	T	-1.92	0.47514	N	0.119	0.11912	-0.9417	0.42346	T	0.021	0.08686	T	10	0.006624311	0.00150	T	0.001322	0.01860	T	0.061	0.17616	.	.	0.244539031024	0.24083	0.033444072647935544	0.03292	0.673727972877	0.59609	0.276505172253	0.07011	T	0.070272	0.33919	T	-0.163573	0.26211	T	-0.472738	0.25221	T	0.0168572552517478	0.00438	T	0.40306	0.10319	T	0.32628953	0.55165	0.14389357	0.34181	0.32628953	0.55165	0.14389357	0.34180	-9.053	0.68038	D	.	.	0.087	0.14201	B	.;.;.;.;.	.;.;.;.;.	2.100822	0.26729	17.22	0.59713539481296896	0.06289	0.05196	0.11019	N	AEFDBHCI	0.252938	0.37253	N	-0.818626077946385	0.12835	0.6282218	-0.958777827068927	0.10720	0.5417307	0.999998817973529	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.645665	0.59343	0	.	.	3.69	-0.57	0.11164	-0.012000	0.12637	.	.	0.534000	0.24903	0.000000	0.06391	0.000000	0.08366	0.034000	0.13613	0.4426:0.4323:0.1251:0.0	4.153	0.09711	862	0.33134	Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like domain;Immunoglobulin-like 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	4400.11	202	chr6	29944131	.	A	G	4400.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.980e-01;DP=5797;ExcessHet=0.1072;FS=0.601;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=48.28;MQRankSum=-3.257e+00;QD=7.73;ReadPosRankSum=1.17;SOR=0.773	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,80:246:99:.:.:1704,0,5547	19	0	2	0
chr6	30340549	30340549	A	G	exonic	TRIM39;TRIM39-RPP21	.	nonsynonymous SNV	TRIM39-RPP21:NM_001199119:exon5:c.A848G:p.E283G	.	.	425	1089	8	0	0	8	0.00365965	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.59	P	0.333	B	0.006	N	0.963	D	1.345	L	3.19	T	-0.877	T	0.135	T	0.421	4.427	23.5	6.17	2.371	2.972	13.214	0.058	.	0.0006	0.0115815	0.0065	0.0020	0.0005	0.0106	0	0.0003	0.0046	0.0380	0.0056274	870	154602	rs61758102	0.0030	0.0030	0.0018	0.0042	0.0407	0.0029	0.0029	0.0396	0.0391	0.0015	0.0006	0.0004	0.0060	0	0.0036	0.0002	0.0054	0.0407	0.0025	0.0025	0.0016	0.0036	0.0590	0.0023	0.0022	0.0534	0.0512	0.0010	0	0.0001	0.0006	0.0060	0	0	0.0003	0.0014	0.0590	0.031	0.45039	D	0.28	0.37173	T	0.373	0.34173	B	0.179	0.35808	B	0.006413	0.32054	N	0.260847	0.962912	0.38318	D	1.1	0.28011	L	0.0	0.62608	T	-3.28	0.68764	D	0.136	0.28732	-0.8770	0.49997	T	0.135	0.44875	T	10	0.0029112995	0.00047	T	.	.	.	0.058	0.16647	.	.	0.259504319725	0.25562	0.6511736240182044	0.65053	0.137210899291	0.15472	.	.	.	0.097204	0.39979	T	-0.359508	0.04157	T	-0.263422	0.48482	T	0.0260405041037394	0.01412	T	.	.	.	0.0684415	0.14910	0.121030994	0.29205	0.0684415	0.14910	0.121030994	0.29204	-5.635	0.48197	T	.	.	0.219	0.57775	B	.;.;.;.;.;.	.;.;.;.;.;.	3.711685	0.52989	23.3	0.99889453305637876	0.96359	0.83468	0.42583	D	AEFBHCI	0.456240	0.50819	N	0.149963396011878	0.48810	3.088757	0.311801805080077	0.56232	3.786317	0.999999999360383	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.17	6.17	0.99707	3.015000	0.49286	.	.	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.214	0.59270	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	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	2179.11	35	chr6	30340549	.	A	G	2179.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.225;DP=853;ExcessHet=0.1072;FS=1.207;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=0.588;SOR=0.816	GT:AD:DP:GQ:PL	0/1:46,46:92:99:1255,0,1238	19	0	2	0
chr6	30647826	30647826	A	G	exonic	C6orf136	.	nonsynonymous SNV	C6orf136:NM_001161376:exon1:c.A595G:p.R199G,	.	.	421	1021	74	6	0	86	0.0404135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.0	B	0.0	B	.	.	0.998	N	0	N	.	.	-0.977	T	0.014	T	0.01	0.757	8.011	-1.41	-0.297	.	3.037	0.075	.	.	0.0171725	0.0293	0.0054	0.0290	0.0278	0	0.0178	0.0541	0.0388	0.003357	519	154602	rs117903822	0.0077	0.0074	0.0070	0.0084	0.0797	0.0076	0.0075	0.0772	0.0762	0.0052	0.0085	0.0167	0.0797	0.0052	0.0338	0.0038	0.0101	0.0258	0.0078	0.0078	0.0069	0.0088	0.0437	0.0075	0.0073	0.0390	0.0372	0.0039	0.0088	0.0118	0.0176	0.0437	0.0058	0.0374	0.0052	0.0123	0.0207	1.0	0.00964	T	0.332	0.18732	T	.	.	.	.	.	.	.	.	.	.	1	0.22124	N	.	.	.	.	.	.	-0.65	0.18877	N	0.01	0.00095	-0.9772	0.35638	T	0.014	0.05657	T	8	0.0018902421	0.00026	T	.	.	.	0.075	0.21907	.	.	.	.	0.06098385558283108	0.06038	1.24459615627	0.81633	.	.	.	0.01798	0.14575	T	-0.709725	0.00032	T	-0.729716	0.04340	T	0.00730309167067027	0.00084	T	0.329067	0.06866	T	.	.	.	.	.	.	.	.	-3.444	0.15656	T	.	.	0.046	0.00059	B	.;.	.;.	1.312319	0.17156	12.99	0.62416210181127441	0.06957	0.00276	0.01495	N	ALL	0.031049	0.03242	N	-1.38486048576254	0.02779	0.123214	-1.38930339050936	0.03365	0.1568165	0.999999999949627	0.74766	0.441713	0.08003	0	0.484254	0.07192	0	0.52208	0.10781	0	0.249971	0.05119	0	.	.	3.38	-1.41	0.08473	0.813000	0.26883	.	.	-0.121000	0.13915	0.014000	0.18986	0.926000	0.28431	0.943000	0.48514	0.4582:0.0:0.3434:0.1985	3.037	0.05757	851	0.35303	.;.	.	.	.	.	rs117903822	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	957.11	33	chr6	30647826	.	A	G	957.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.27;DP=728;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=1.07;SOR=0.702	GT:AD:DP:GQ:PL	0/1:15,8:23:99:232,0,449	19	0	2	0
chr6	30685364	30685364	C	G	exonic	PPP1R18	.	nonsynonymous SNV	PPP1R18:NM_133471:exon1:c.G655C:p.V219L	.	.	419	1043	54	6	0	66	0.0306691	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.008	B	0.002	B	0.700	N	1.000	N	0.46	N	1.88	T	-0.946	T	0.014	T	0.097	0.949	8.871	1.39	0.344	0.207	11.106	0.021	.	0.0023	0.0061901	0.0061	0.0007	0.0036	0.0014	0.0020	0.0045	0.0069	0.0212	0.0054204	838	154602	rs143519393	0.0042	0.0042	0.0034	0.0049	0.0217	0.0041	0.0041	0.0209	0.0205	0.0005	0.0040	0.0052	0.0004	0.0018	0.0153	0.0031	0.0052	0.0217	0.0038	0.0038	0.0033	0.0042	0.0180	0.0035	0.0034	0.0150	0.0139	0.0006	0	0.0079	0.0046	0.0015	0.0025	0.0272	0.0040	0.0052	0.0180	0.082	0.33254	T	0.255	0.23365	T	0.008	0.14655	B	0.002	0.06944	B	0.700478	0.10098	N	0.818239	1	0.08975	N	2.32	0.66415	M	1.88	0.23884	T	-0.35	0.12847	N	0.132	0.12770	-0.9456	0.41715	T	0.014	0.05705	T	10	0.001848489	0.00025	T	.	.	.	0.021	0.04004	0.264	0.20946	0.0611884634855	0.05136	0.027450092187436007	0.02695	0.448885401441	0.44700	0.363796293736	0.19938	T	0.002987	0.02381	T	-0.614717	0.00119	T	-0.638855	0.09753	T	0.00821828713281253	0.00098	T	.	.	.	0.030433146	0.02707	0.08462599	0.19481	0.030433146	0.02706	0.08462599	0.19481	-3.728	0.19732	T	.	.	0.126	0.26886	B	.;.;.	.;.;.	1.542826	0.19785	14.43	0.89823851812728572	0.19134	0.09276	0.15065	N	AEFDGBHCI	0.099578	0.20041	N	-1.0622982690646	0.07348	0.3410551	-0.975248394405998	0.10343	0.5203191	0.999999959912266	0.74766	0.627647	0.40530	0	0.52208	0.09955	0	0.26897	0.05253	2	0.657601	0.63696	0	.	.	5.66	1.39	0.21325	0.790000	0.26562	.	.	-0.773000	0.03420	0.429000	0.26401	0.000000	0.08366	0.955000	0.50612	0.0:0.6904:0.0:0.3096	11.106	0.47423	862	0.33134	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4247.11	33	chr6	30685364	.	C	G	4247.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=4.59;DP=1007;ExcessHet=0.1072;FS=1.863;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.721;SOR=0.818	GT:AD:DP:GQ:PL	0/1:80,68:148:99:1973,0,2115	19	0	2	0
chr6	30703983	30703983	C	T	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.G5200A:p.A1734T,	.	.	424	1017	74	7	0	88	0.0414703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.178	B	0.042	B	0.673	N	1.000	N	-1.1	N	3.55	T	-0.934	T	0.001	T	0.033	-0.370	2.258	-4.12	-0.370	-0.663	0.290	0.018	.	0.0044	0.0165735	0.0110	0.0030	0.0063	0.0409	0.0048	0.0063	0.0132	0.0247	0.0104074	1609	154602	rs75355880	0.0079	0.0079	0.0072	0.0086	0.0759	0.0078	0.0077	0.0737	0.0728	0.0035	0.0078	0.0167	0.0759	0.0053	0.0338	0.0039	0.0100	0.0256	0.0075	0.0075	0.0067	0.0084	0.0438	0.0071	0.0070	0.0391	0.0373	0.0029	0.0088	0.0112	0.0176	0.0438	0.0058	0.0374	0.0053	0.0123	0.0199	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.672941	0.10325	N	0.808128	1	0.08975	N	-1.78	0.00307	N	3.55	0.04746	T	0.94	0.01529	N	0.013	0.00142	-0.9339	0.43560	T	0.001	0.00348	T	10	0.0020232499	0.00028	T	.	.	.	0.018	0.03083	.	.	.	.	0.06377326123958094	0.06316	0.189930224763	0.21315	0.234251990914	0.02297	T	0.016035	0.13332	T	-0.791146	0.00009	T	-0.844117	0.01039	T	0.0050463368276341	0.00054	T	.	.	.	0.014551189	0.00098	0.03780534	0.03512	0.014551189	0.00098	0.03780534	0.03512	-3.401	0.15070	T	.	.	0.074	0.05188	B	.	.	-0.522186	0.01798	0.139	0.65426518840499925	0.07769	0.00870	0.03447	N	AEFDGBCI	0.012979	0.00158	N	-1.56879976541179	0.01427	0.06226877	-1.55244441102163	0.01959	0.08944971	0.999923987511578	0.46280	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-4.12	0.03650	-0.676000	0.05321	.	.	-0.130000	0.13190	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.289:0.2635:0.1486:0.299	0.290	0.00239	884	0.28482	.	.	.	.	.	.	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	6175.11	37	chr6	30703983	.	C	T	6175.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.13;DP=1423;ExcessHet=0.1072;FS=0.522;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.91;ReadPosRankSum=-1.030e-01;SOR=0.744	GT:AD:DP:GQ:PL	0/1:85,104:189:99:2809,0,2293	19	0	2	0
chr6	30704192	30704192	G	C	exonic	MDC1	.	nonsynonymous SNV	MDC1:NM_014641:exon10:c.C4991G:p.T1664S,	.	.	422	1019	74	7	0	88	0.0413923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.066	B	0.065	B	0.676	N	1.000	N	0.62	N	2.67	T	-0.918	T	0.005	T	0.067	-0.390	2.171	-4.79	-1.125	-1.171	3.408	0.006	.	0.0043	0.0167732	0.0112	0.0030	0.0063	0.0421	0.0048	0.0063	0.0166	0.0258	0.0105885	1637	154602	rs80087328	0.0080	0.0080	0.0073	0.0087	0.0768	0.0079	0.0079	0.0745	0.0736	0.0034	0.0078	0.0167	0.0768	0.0053	0.0337	0.0039	0.0121	0.0263	0.0076	0.0077	0.0068	0.0085	0.0442	0.0073	0.0071	0.0395	0.0377	0.0029	0.0088	0.0114	0.0176	0.0442	0.0058	0.0374	0.0053	0.0180	0.0205	0.347	0.12428	T	0.529	0.10138	T	0.021	0.18474	B	0.018	0.18489	B	0.675874	0.10301	N	0.785142	1	0.08975	N	0.785	0.19527	N	2.67	0.12473	T	-0.85	0.23156	N	0.023	0.00407	-0.9176	0.45877	T	0.005	0.01833	T	10	0.0025712848	0.00039	T	.	.	.	0.006	0.00375	0.132	0.03662	.	.	0.052971124096217334	0.05239	0.176861744951	0.19898	0.229384556413	0.01923	T	0.022529	0.17353	T	-0.755738	0.00016	T	-0.796654	0.01987	T	0.00466072554484341	0.00050	T	.	.	.	0.021209378	0.00712	0.022170952	0.00247	0.021209378	0.00712	0.022170952	0.00247	-5.545	0.42287	T	.	.	0.094	0.14293	B	.	.	-0.958933	0.00831	0.028	0.77038592157196695	0.11711	0.12720	0.17439	N	AEFBCI	0.041463	0.06306	N	-1.47856639275995	0.02002	0.08794544	-1.55226613946532	0.01960	0.08950758	0.999416663980499	0.39577	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.93	-4.79	0.02966	-1.465000	0.02463	.	.	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0832:0.239:0.1956:0.4822	3.408	0.06922	884	0.28482	.	.	.	.	.	.	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	5775.11	37	chr6	30704192	.	G	C	5775.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.89;DP=1613;ExcessHet=0.1072;FS=1.757;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=0.965;SOR=0.537	GT:AD:DP:GQ:PL	0/1:117,94:211:99:2697,0,3461	19	0	2	0
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	1/1:0,252,0:254:99:.:.:7804,775,0,7727,773,7684	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	0/1:65,64:129:99:.:.:2457,0,2496	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	1/1:0,135,0:135:99:.:.:4799,405,0,4799,405,4799	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	0|1:53,38:91:99:0|1:31270154_CAGA_C:1343,0,1909:31270154	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	0/1:127,79,0,0:206:99:.:.:1932,0,3830,2313,4067,6380,2313,4067,6380,6380	0	0	16	0
chr6	31271207	31271207	G	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.C485A:p.T162N	.	.	2	1446	73	1	0	75	0.0252781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.045	B	0.16	B	0.010	U	1.000	N	3.365	M	9.44	T	-0.951	T	0.000	T	0.457	0.381	6.067	-2.67	-0.721	-4.377	8.222	0.058	.	.	.	0.0285	0.0253	0.0185	0.0022	0.0219	0.0416	0.0234	0.0065	0.0026002	402	154602	rs2308584	0.0010	0.0090	0.0010	0.0010	0.0035	0.0009	0.0009	0.0028	0.0026	0.0035	0.0033	0.0073	0.0002	0.0004	0.0017	0.0008	0.0014	0.0005	0.0001	0.0090	8.544e-05	0.0001	0.0001	4.799e-05	3.361e-05	5.375e-05	3.509e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.001	0.78490	D	0.063	0.45110	T	0.045	0.21781	B	0.16	0.34752	B	0.009683	0.01250	U	771.080000	1	0.08975	N	.	.	.	9.44	0.00008	T	-3.35	0.68298	D	0.07	0.04307	-0.9506	0.40868	T	0.000	0.00075	T	10	0.0056905746	0.00126	T	.	.	.	0.186	0.46104	.	.	.	.	0.11310932799472559	0.11238	0.614770505073	0.55979	0.328787267208	0.14750	T	0.015394	0.12921	T	-0.50846	0.00512	T	-0.468836	0.25641	T	0.0708414355338504	0.08768	T	0.00459954	0.00014	T	.	.	.	.	.	.	.	.	-8.6	0.65089	D	.	.	0.183	0.39647	B	.;.;.	.;.;.	1.252472	0.16495	12.58	0.70026550487147099	0.09162	0.01832	0.05685	N	AEFDGBHCI	0.138209	0.25943	N	-1.20749607607456	0.04889	0.2216519	-1.4198435015477	0.03054	0.1417363	0.999999918893126	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.81	-2.67	0.05703	-3.847000	0.00395	.	.	-3.701000	0.00065	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4359:0.0:0.5641:0.0	8.222	0.30707	934	0.15400	MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like;MHC class I-like antigen recognition-like	.	.	.	.	chr6:31238984	Likely benign	0	0	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	0.09524	4671.92	173	chr6	31271207	.	G	T	4671.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.70;DP=3662;ExcessHet=0.6776;FS=0.647;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=50.74;MQRankSum=-3.502e+00;QD=5.80;ReadPosRankSum=-1.296e+00;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,51:183:99:0|1:31271180_A_C:1711,0,5314:31271180	17	0	4	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|1:69,21,0:90:99:0|1:31271180_A_C:656,0,2814,863,2877,3740:31271180	9	2	9	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G,	.	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0/1:166,23:189:99:.:.:229,0,5951	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|2:0,36,9:45:99:0|1:31356181_T_G:1858,351,230,1211,0,1138:31356181	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	0/1:57,12,0:69:99:.:.:297,0,1304,468,1340,1808	1	0	12	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|1:4,4,0:8:99:0|1:31356399_C_G:149,0,156,161,168,329:31356399	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|1:0,102,0:102:99:1|1:31356747_GCC_G:4590,307,0,4590,307,4590:31356747	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	0|2:75,0,93:168:99:0|1:31356809_C_T:3679,3905,7054,0,3149,2869:31356809	0	5	0	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	1/1:0,85,0,0:85:99:.:.:3725,256,0,3725,256,3725,3725,256,3725,3725	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|1:99,43:142:99:0|1:31625601_T_C:826,0,3163:31625601	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|1:99,43,0:142:99:0|1:31625601_T_C:826,0,3163,1122,3290,4412:31625601	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|1:99,43,0:142:99:0|1:31625601_T_C:826,0,3163,1122,3290,4412:31625601	0	0	18	2
chr6	32089253	32089253	C	T	exonic	TNXB	.	nonsynonymous SNV	TNXB:NM_001365276:exon5:c.G2485A:p.G829S	Ehlers-Danlos syndrome due to tenascin X deficiency, Autosomal recessive;Vesicoureteral reflux 8, Autosomal dominant	.	0	1487	34	1	0	36	0.0119601	.	.	1269701	Ehlers-Danlos_syndrome|not_provided|Cardiovascular_phenotype	MONDO:MONDO:0020066,MedGen:C0013720,OMIM:PS130000,Orphanet:98249|MedGen:C3661900|MedGen:CN230736	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	1.0	D	1.0	D	0.000	D	1.000	D	0.27	N	0.0	T	-0.913	T	0.142	T	0.351	4.095	21.1	5.19	2.707	2.504	16.254	0.324	0.0506389190351	0.0002	0.000399361	0.0014	0.0001	0.0003	0.0002	0.0002	0.0004	0.0036	0.0084	0.0011643	180	154602	rs147172260	0.0008	0.0008	0.0006	0.0011	0.0077	0.0008	0.0008	0.0072	0.0070	0.0002	0.0002	0.0001	0.0002	5.952e-05	0.0052	0.0004	0.0010	0.0077	0.0004	0.0004	0.0003	0.0005	0.0052	0.0003	0.0003	0.0036	0.0031	4.814e-05	0	0.0001	0.0006	0	0	0	0.0004	0.0019	0.0052	0.613	0.05420	T	0.0	0.92824	D	.	.	.	.	.	.	0.000103	0.50451	D	0.000000	0.98473	0.40186	D	.	.	.	0.0	0.62608	T	-4.65	0.79399	D	0.497	0.53006	-0.9127	0.46518	T	0.142	0.46275	T	10	0.008799136	0.00199	T	0.050639	0.64325	D	0.324	0.64624	.	.	0.358461578395	0.35455	.	.	.	.	0.578430056572	0.49865	T	0.29263	0.66535	T	-0.386751	0.02823	T	-0.323752	0.42162	T	0.0958633468784397	0.11895	T	0.715628	0.54791	T	0.43143234	0.62846	0.43191615	0.66794	0.42014903	0.62102	0.42535052	0.66346	-5.497	0.41840	T	0.12625993868028798	0.12714	0.176	0.38498	B	.;.;.;.	.;.;.;.	4.109917	0.61346	24.3	0.99811975144416765	0.89531	0.92780	0.56527	D	AEFDBI	0.608898	0.59830	D	0.25693665237549	0.53982	3.565097	0.329674899078023	0.57291	3.89425	0.999999999999063	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.19	5.19	0.71428	2.800000	0.47595	.	.	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	16.254	0.82326	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	630.98	43	chr6	32089253	.	C	T	630.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.86;ReadPosRankSum=0.055;SOR=0.754	GT:AD:DP:GQ:PL	0/1:40,24:64:99:645,0,1037	20	0	1	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	0/2:34,0,25,0,0:59:99:948,1050,2478,0,1428,1352,1050,2478,1428,2478,1050,2478,1428,2478,2478	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	0/2:34,0,25,0,0:59:99:948,1050,2478,0,1428,1352,1050,2478,1428,2478,1050,2478,1428,2478,2478	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	0/2:34,0,25,0,0:59:99:948,1050,2478,0,1428,1352,1050,2478,1428,2478,1050,2478,1428,2478,2478	0	1	4	0
chr6	32519649	32519649	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9579.39	39	chr6	32519649	.	C	A,*	9579.39	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=4.43;DP=516;ExcessHet=0.0001;FS=2.640;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.21;MQRankSum=4.41;QD=30.44;ReadPosRankSum=-1.495e+00;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,31,0:38:99:0|1:32519643_T_C:1281,0,201,1302,294,1596:32519643	8	5	2	5
chr6	32519650	32519650	A	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4375	9378.63	38	chr6	32519650	.	A	G,*	9378.63	.	AC=12,2;AF=0.375,0.063;AN=32;BaseQRankSum=3.57;DP=510;ExcessHet=0.0001;FS=2.644;InbreedingCoeff=0.7460;MLEAC=15,1;MLEAF=0.469,0.031;MQ=45.16;MQRankSum=4.36;QD=31.47;ReadPosRankSum=-1.495e+00;SOR=1.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:7,31,0:38:99:0|1:32519643_T_C:1281,0,201,1302,294,1596:32519643	8	5	2	5
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3947	50186.86	152	chr6	32522156	.	T	A,G,*,C	50186.86	.	AC=14,6,6,1;AF=0.368,0.158,0.158,0.026;AN=38;BaseQRankSum=-2.391e+00;DP=2479;ExcessHet=0.0000;FS=4.483;InbreedingCoeff=0.8143;MLEAC=15,7,7,1;MLEAF=0.395,0.184,0.184,0.026;MQ=47.59;MQRankSum=-1.347e+01;QD=31.15;ReadPosRankSum=3.03;SOR=0.362	GT:AD:DP:GQ:PGT:PID:PL:PS	1/2:0,89,31,0,0:120:99:.:.:5039,1302,1034,3703,0,3603,5024,1302,3702,5019,5024,1302,3702,5019,5019	5	1	0	2
chr6	32530183	32530185	CTT	0	exonic	HLA-DRB5	.	.	.	.	.	1	58	89	55	23	222	0.631746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	14818.53	115	chr6	32530183	.	CTT	*,C	14818.53	.	AC=5,17;AF=0.119,0.405;AN=42;BaseQRankSum=2.59;DP=2163;ExcessHet=0.2144;FS=6.037;InbreedingCoeff=0.1918;MLEAC=5,18;MLEAF=0.119,0.429;MQ=53.28;MQRankSum=-6.845e+00;QD=10.59;ReadPosRankSum=-2.181e+00;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:94,55,0:149:99:.:.:1368,0,2397,1650,2563,4212	6	1	2	0
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	1/2:0,83,55,0:144:99:.:.:6015,1857,1464,2413,0,2014,5825,1850,2388,5793	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	1/3:0,55,0,83:138:99:.:.:5990,2410,2014,5794,2378,5759,1854,0,1847,1464	0	1	0	0
chr6	32581836	32581836	G	A	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon3:c.C373T:p.Q125X,	.	.	4	1243	130	0	145	275	0.0496942	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.838	N	1.000	A	.	.	.	.	.	.	.	.	.	2.918	15.72	0.396	0.242	-1.613	7.656	.	.	.	.	1.992e-05	0	0	0	0	1.758e-05	0	7.93e-05	.	.	.	rs17882084	0.0002	0.0028	0.0002	0.0002	0.0012	0.0002	0.0002	0.0009	0.0008	0.0002	0.0012	0.0003	0	7.98e-05	0	0.0002	0.0002	0.0001	8.823e-06	0.0005	0	1.815e-05	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.838005	0.06982	N	1.073180	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.674	0.68169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263211	0.79824	D	0.140308	0.79564	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.079196	0.60664	24.2	0.98105513147472045	0.38310	0.05555	0.11452	N	AEFDBHCI	0.337902	0.43555	N	0.0535119855739055	0.44304	2.706928	-0.352422202738623	0.26434	1.460069	0.999291314727099	0.39042	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.530356	0.10902	0	.	.	3.87	0.396	0.15532	-1.435000	0.02529	.	.	-0.542000	0.04929	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2917:0.5886:0.1197	7.656	0.27542	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	0.1905	29644.93	509	chr6	32581836	.	G	C,A	29644.93	.	AC=5,3;AF=0.119,0.071;AN=42;BaseQRankSum=-1.041e+00;DP=8578;ExcessHet=0.5418;FS=1.262;InbreedingCoeff=0.0735;MLEAC=5,3;MLEAF=0.119,0.071;MQ=56.50;MQRankSum=-8.926e+00;QD=8.65;ReadPosRankSum=3.57;SOR=0.585	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:356,108,61:525:99:.:.:3435,0,14623,1951,12387,16738	14	1	3	0
chr6	32584158	32584158	G	T	exonic	HLA-DRB1	.	stopgain	HLA-DRB1:NM_002124:exon2:c.C321A:p.Y107X,	.	.	38	1273	37	0	174	211	0.0143244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.019	N	1.000	A	.	.	.	.	.	.	.	.	.	2.920	15.73	-1.18	-0.021	0.300	8.251	.	.	.	.	0.1326	0.0860	0.1891	0.1952	0.1299	0.1319	0.1322	0.1062	0.0914801	14143	154602	rs11554463	0.0011	0.0015	0.0010	0.0012	0.0031	0.0010	0.0010	0.0026	0.0024	0.0011	0.0017	0.0022	0.0031	0.0008	0.0014	0.0008	0.0012	0.0025	0.0094	0.0072	0.0098	0.0089	0.0186	0.0087	0.0084	0.0128	0.0109	0.0055	0.0183	0.0146	0.0145	0.0186	0.0078	0.0200	0.0104	0.0114	0.0095	.	.	.	.	.	.	.	.	.	.	.	.	0.019402	0.01510	N	2.614030	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.27	0.30574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.158225	0.27035	T	0.0633237	0.74465	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	4.513188	0.70700	25.6	0.98600005784927347	0.43493	0.15870	0.19121	N	ALL	0.134508	0.25455	N	-0.269699894769455	0.30323	1.689784	-0.635027386912684	0.18595	0.9940822	0.999708401555777	0.41986	0.660085	0.49399	0	0.672317	0.65289	0	0.662677	0.59975	0	0.616125	0.45549	0	.	.	3.48	-1.18	0.09122	0.618000	0.24068	.	.	-0.626000	0.04528	0.548000	0.27330	0.000000	0.08366	0.001000	0.02609	0.0982:0.4365:0.4653:0.0	8.251	0.30877	934	0.15400	MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal|MHC class II, beta chain, N-terminal	.	.	.	.	.	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	0.1	9626.3	174	chr6	32584158	.	G	T,A	9626.3	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-6.130e-01;DP=3725;ExcessHet=0.6776;FS=3.568;InbreedingCoeff=-0.1200;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.07;MQRankSum=3.07;QD=9.89;ReadPosRankSum=-5.630e-01;SOR=0.957	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:193,10,45:248:99:.:.:658,920,9622,0,6482,6510	16	0	2	1
chr6	32584171	32584171	G	0	exonic;splicing	HLA-DRB1;HLA-DRB1	NM_001243965:exon3:c.281+1C>0;NM_001243965:exon4:c.282-1C>0	.	.	.	.	212	511	370	121	308	920	0.374541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.425	28452.78	197	chr6	32584171	.	G	*,T,A	28452.78	.	AC=8,10,1;AF=0.200,0.250,0.025;AN=40;BaseQRankSum=-1.190e-01;DP=4168;ExcessHet=6.7470;FS=3.321;InbreedingCoeff=-0.2727;MLEAC=8,10,1;MLEAF=0.200,0.250,0.025;MQ=53.84;MQRankSum=-1.211e+00;QD=8.51;ReadPosRankSum=1.10;SOR=0.481	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:45,0,221,0:266:99:.:.:7471,7606,8805,0,1199,537,7606,8805,1199,8805	4	0	6	1
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|2:219,0,60:279:99:0|1:32584176_CCG_C:758,1416,8678,0,7263,7087:32584176	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|2:219,0,60:279:99:0|1:32584176_CCG_C:758,1416,8678,0,7263,7087:32584176	3	0	1	0
chr6	32584318	32584318	C	0	exonic	HLA-DRB1	.	.	.	.	.	12	1221	160	8	121	297	0.0672269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	3600.15	264	chr6	32584318	.	C	*,T	3600.15	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=-8.230e-01;DP=7428;ExcessHet=4.7172;FS=0.567;InbreedingCoeff=-0.2727;MLEAC=7,2;MLEAF=0.167,0.048;MQ=53.39;MQRankSum=-4.724e+00;QD=1.58;ReadPosRankSum=1.92;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:222,57,0:294:99:.:.:1725,0,9068,2400,9256,11719	12	0	7	0
chr6	32584352	32584352	C	0	exonic	HLA-DRB1	.	.	.	.	.	1	176	25	0	24	49	0.066313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	3438.47	189	chr6	32584352	.	C	CATGTTTAA,*	3438.47	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=3.60;DP=6521;ExcessHet=1.7912;FS=13.879;InbreedingCoeff=-0.1667;MLEAC=3,3;MLEAF=0.071,0.071;MQ=50.14;MQRankSum=-7.080e+00;QD=3.33;ReadPosRankSum=-2.932e+00;SOR=1.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:168,49,0:217:99:.:.:1552,0,6907,2058,7054,9112	15	0	3	0
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	0/1:49,169,0:218:99:.:.:6949,0,1549,7096,2058,9154	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	0/2:66,34,111,0:211:99:.:.:4499,3252,5872,0,1351,2553,4679,5993,2820,7475	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	2/2:0,0,37:205:99:.:.:1665,1665,1665,111,111,0	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	1/2:0,26,153:179:99:.:.:7516,6424,6346,1092,0,631	2	0	3	2
chr6	32589684	32589684	A	G	exonic	HLA-DRB1	.	nonsynonymous SNV	HLA-DRB1:NM_002124:exon1:c.T59C:p.M20T,	.	.	1	1193	328	0	0	328	0.120855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.049	B	0.034	B	0.131	N	1.000	N	1.61	L	8.43	T	-0.941	T	0.000	T	0.415	0.078	4.424	2.05	0.270	1.241	5.311	0.077	.	.	.	0.0009	0.0026	0	0	0.0002	0.0012	0.0011	0.0004	0.0042646	111	26028	rs35053532	0.0006	0.0073	0.0006	0.0007	0.0022	0.0006	0.0006	0.0017	0.0016	0.0005	0.0009	0.0017	0.0008	0.0006	0.0022	0.0005	0.0008	0.0020	0.0010	0.0084	0.0014	0.0007	0.0018	0.0009	0.0008	0.0012	0.0011	0.0005	0.0033	0.0007	0.0032	0.0018	0	0	0.0015	0	0.0004	0.015	0.52492	D	0.163	0.31125	T	0.049	0.22227	B	0.034	0.22546	B	0.130685	0.02806	N	1.753860	0.999999	0.08975	N	.	.	.	8.43	0.00232	T	-2.54	0.55025	D	0.351	0.39254	-0.9412	0.42426	T	0.000	0.00075	T	10	0.023282856	0.00605	T	.	.	.	0.077	0.22490	.	.	0.370240404367	0.36630	0.4121927582371236	0.41135	0.84044661693	0.68037	.	.	.	0.009999	0.09062	T	-0.155507	0.27453	T	-0.461152	0.26474	T	0.0196228360865429	0.00665	T	0.529047	0.17505	T	0.35031834	0.57092	0.4314815	0.66765	0.35031834	0.57092	0.4314815	0.66765	-2.481	0.05653	T	.	.	0.110	0.21353	B	.	.	2.014600	0.25599	16.82	0.8036740669395388	0.13170	0.04417	0.10008	N	ALL	0.194190	0.32128	N	-0.683751231317595	0.16484	0.8402923	-0.710060751366673	0.16710	0.8852588	0.99999996150014	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.584781	0.30282	0	0.687789	0.68303	1	.	.	4.4	2.05	0.25860	1.398000	0.34163	.	.	0.750000	0.87069	0.802000	0.29747	0.000000	0.08366	0.027000	0.12703	0.7604:0.0:0.2396:0.0	5.311	0.15141	934	0.15400	.	.	.	.	.	.	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	10724.01	323	chr6	32589684	.	A	G	10724.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-1.231e+00;DP=4752;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=49.04;MQRankSum=-7.090e-01;QD=4.29;ReadPosRankSum=0.302;SOR=0.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:284,47:331:99:0|1:32589684_A_G:1119,0,11743:32589684	12	0	9	0
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|1:220,44,0:264:99:0|1:32641430_C_T:1185,0,9105,1848,9238,11085:32641430	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|2:220,0,45:265:99:0|1:32641430_C_T:1227,1890,11127,0,9238,9102:32641430	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|1:232,43,0:275:99:0|1:32641430_C_T:1107,0,9612,1806,9742,11547:32641430	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|1:233,43,0:276:99:0|1:32641430_C_T:1104,0,9654,1806,9784,11589:32641430	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|1:238,59,0,0:297:99:0|1:32641430_C_T:1761,0,9816,2477,9994,12471,2477,9994,12471,12471:32641430	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|2:232,0,69,0:301:99:0|1:32641430_C_T:2179,2877,12575,0,9698,9490,2877,12575,9698,12575:32641430	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|2:232,0,69,0:301:99:0|1:32641430_C_T:2179,2877,12575,0,9698,9490,2877,12575,9698,12575:32641430	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|1:164,161,0:325:99:0|1:32664910_A_G:6242,0,6355,6736,6839,13575:32664910	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	1|2:0,49,60:109:99:1|0:32666522_A_ACC:4577,2502,2352,2058,0,1877:32666522	1	1	0	0
chr6	33007137	33007137	C	A	exonic	HLA-DOA	.	nonsynonymous SNV	HLA-DOA:NM_002119:exon4:c.G692T:p.G231V,	.	.	408	1104	10	0	0	10	0.00450857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.754	P	0.000	D	1.000	D	3.125	M	4.34	T	-1.154	T	0.023	T	0.696	4.213	21.9	4.81	2.654	2.166	15.777	0.207	0.015832190313	0.0013	0.000199681	0.0018	0.0001	0.0015	0	0.0011	0.0026	0.0067	0.0008	0.0015912	246	154602	rs141887419	0.0013	0.0013	0.0013	0.0014	0.0040	0.0013	0.0013	0.0027	0.0023	0.0001	0.0015	0.0255	7.557e-05	0.0011	0.0040	0.0008	0.0026	0.0011	0.0014	0.0014	0.0014	0.0014	0.0020	0.0012	0.0012	0.0014	0.0012	2.405e-05	0	0.0020	0.0259	0	0.0016	0.0034	0.0010	0.0024	0.0002	0.0	0.91255	D	0.001	0.83351	D	0.986	0.61523	D	0.754	0.56161	P	0.000001	0.84330	D	0.055623	1	0.81001	D	.	.	.	4.34	0.02341	T	-5.85	0.88495	D	0.639	0.65159	-1.1539	0.00913	T	0.023	0.09968	T	10	0.008959204	0.00203	T	0.015832	0.36777	T	0.207	0.49555	.	.	0.245101548738	0.24120	0.466580494877547	0.46577	0.867106616012	0.69253	0.340403318405	0.16499	T	0.235749	0.60308	T	-0.294374	0.09201	T	-0.220252	0.52714	T	0.077117112410018	0.09614	T	.	.	.	0.43390742	0.63007	0.31397367	0.57392	0.43390742	0.63008	0.31397367	0.57391	-10.808	0.78594	D	.	.	0.163	0.35931	B	.	.	3.530082	0.49522	22.8	0.99701618943290538	0.80660	0.96381	0.68860	D	AEFDBI	0.501753	0.53446	D	0.686312535578109	0.78735	6.931957	0.625188012090597	0.76776	6.553385	0.999998229885003	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.542086	0.14980	0	.	.	4.81	4.81	0.61401	1.983000	0.40270	.	.	0.597000	0.34315	1.000000	0.71638	1.000000	0.68203	0.757000	0.36037	0.0:1.0:0.0:0.0	15.777	0.78003	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1650.11	33	chr6	33007137	.	C	A	1650.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.176e+00;DP=842;ExcessHet=0.1072;FS=4.308;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=1.51;SOR=1.085	GT:AD:DP:GQ:PL	0/1:34,32:66:99:820,0,1052	19	0	2	0
chr6	33801090	33801090	G	C	exonic	MLN	.	nonsynonymous SNV	MLN:NM_001040109:exon2:c.C74G:p.A25G	.	.	414	1092	13	3	0	19	0.0086246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.023	B	0.016	B	0.026	N	0.948	N	1.145	L	0.81	T	-1.083	T	0.041	T	0.196	0.542	6.932	4.41	2.495	1.387	11.008	0.069	0.00705100641908	0.0032	0.00319489	0.0025	0.0032	0.0030	0	0.0006	0.0029	0.0044	0.0018	0.0023868	369	154602	rs146896135	0.0020	0.0020	0.0020	0.0020	0.0137	0.0019	0.0019	0.0113	0.0104	0.0040	0.0029	0.0148	7.557e-05	0.0005	0.0137	0.0016	0.0039	0.0011	0.0034	0.0034	0.0036	0.0033	0.0053	0.0032	0.0031	0.0047	0.0045	0.0053	0	0.0037	0.0173	0	0.0004	0.0102	0.0024	0.0052	0.0019	0.503	0.07670	T	0.641	0.07196	T	0.023	0.18885	B	0.016	0.17743	B	0.025968	0.25998	N	0.329157	0.947629	0.26594	N	1.465	0.36909	L	0.8	0.48769	T	0.43	0.04533	N	0.143	0.15469	-1.0825	0.06871	T	0.041	0.17657	T	10	0.007377565	0.00168	T	0.007051	0.18676	T	0.069	0.20116	.	.	0.344483371355	0.34058	0.38354543985551653	0.38269	0.241818290328	0.26701	0.373300492764	0.21304	T	0.009338	0.08507	T	-0.528635	0.00391	T	-0.53062	0.19226	T	0.00810768092511025	0.00096	T	0.690331	0.29972	T	0.07499108	0.16867	0.0959349	0.22775	0.07499108	0.16867	0.0959349	0.22774	-4.558	0.31640	T	.	.	0.086	0.10691	B	.;.;.	.;.;.	1.877647	0.23851	16.17	0.91325574505909923	0.20587	0.50755	0.28736	D	AEFBHI	0.176837	0.30406	N	-0.321907369721104	0.28317	1.560913	-0.173457167677052	0.32516	1.850731	0.46591951880652	0.20665	0.549168	0.22868	0	0.563428	0.19063	0	0.590023	0.30420	0	0.566403	0.31848	0	.	.	5.3	4.41	0.52588	1.124000	0.30934	4.355000	0.43100	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.740000	0.35438	0.0:0.3012:0.6988:0.0	11.008	0.46864	781	0.47532	.;.;.	.	.	.	.	.	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	1554.98	34	chr6	33801090	.	G	C	1554.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.170e-01;DP=856;ExcessHet=0.0000;FS=2.510;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.852;SOR=0.910	GT:AD:DP:GQ:PL	0/1:47,61:108:99:1569,0,1195	20	0	1	0
chr6	34392285	34392285	G	T	exonic	NUDT3	.	nonsynonymous SNV	NUDT3:NM_006703:exon1:c.C78A:p.F26L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.993	D	0.975	D	0.000	D	1.000	D	0.495	N	3.22	T	-0.933	T	0.014	T	0.639	3.716	18.87	1.75	0.213	3.645	6.816	0.216	.	0.0026	0.00279553	0.0011	0.0101	0.0011	0	0	0.0003	0.0016	0	0.0008344	129	154602	rs146760187	0.0004	0.0004	0.0004	0.0004	0.0069	0.0004	0.0004	0.0061	0.0058	0.0069	0.0008	0	0	2.017e-05	0.0010	0.0003	0.0006	3.504e-05	0.0018	0.0018	0.0019	0.0017	0.0055	0.0016	0.0016	0.0049	0.0047	0.0055	0	0.0011	0	0	0	0.0034	0.0004	0.0024	0	.	.	.	0.3	0.20357	T	0.993	0.65571	D	0.975	0.73362	D	0.000248	0.46924	D	0.142736	0.99992	0.51308	D	0.78	0.19475	N	.	.	.	.	.	.	0.308	0.34767	-0.9334	0.43636	T	0.014	0.05369	T	10	0.009668589	0.00218	T	.	.	.	.	.	0.601	0.73226	0.546106344192	0.54265	0.7586243788678189	0.75810	0.895058220819	0.70420	.	.	.	0.074462	0.34944	T	-0.238672	0.15518	T	-0.112026	0.62449	T	0.0959100561392512	0.11901	T	0.968303	0.88511	D	0.27774566	0.50831	0.2749793	0.53431	0.27774566	0.50831	0.2749793	0.53430	-5.411	0.41025	T	.	.	0.978	0.90719	P	.	.	3.186010	0.43269	21.7	0.994746841409341	0.66525	0.38968	0.26107	N	ALL	0.492609	0.52918	N	0.00584845184669325	0.42121	2.531951	-0.0281180030093833	0.38450	2.265504	0.999999999996794	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	3.55	1.75	0.23707	3.311000	0.51629	2.922000	0.35569	-0.194000	0.09177	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.3031:0.0:0.6969:0.0	6.816	0.23013	705	0.57330	NUDIX hydrolase domain|NUDIX hydrolase 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	1116.98	34	chr6	34392285	.	G	T	1116.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.509e+00;DP=774;ExcessHet=0.0000;FS=0.924;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.51;ReadPosRankSum=-5.000e-03;SOR=0.538	GT:AD:DP:GQ:PL	0/1:32,45:77:99:1131,0,859	20	0	1	0
chr6	34528877	34528877	G	C	exonic	PACSIN1	.	nonsynonymous SNV	PACSIN1:NM_001199583:exon4:c.G456C:p.E152D	.	.	.	.	.	.	.	.	.	1.0000	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.553	P	0.083	B	0.000	D	1.000	D	1.95	M	2.41	T	-1.008	T	0.071	T	0.436	2.919	15.73	3.78	2.110	9.566	15.812	0.244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28646	T	0.165	0.30926	T	0.553	0.38185	P	0.083	0.29179	B	0.000002	0.62929	D	0.057166	1	0.81001	D	2.38	0.68558	M	2.41	0.48142	T	-1.81	0.42575	N	0.616	0.64223	-1.0078	0.27603	T	0.071	0.28969	T	10	0.4428772	0.58213	T	0.024482	0.47468	T	0.244	0.55061	0.294	0.25720	0.603040811188	0.59987	0.16305492827728518	0.16225	0.503798904839	0.48685	0.678037703037	0.63986	T	0.217569	0.58004	T	-0.0396076	0.46008	T	-0.29467	0.45284	T	0.786065635174898	0.45434	D	0.929307	0.73951	D	0.41346648	0.61654	0.24255277	0.49678	0.41346648	0.61655	0.24255277	0.49677	-4.274	0.27811	T	.	.	0.186	0.41572	B	.;.;.;.	.;.;.;.	6.345052	0.95053	34	0.99146723813992677	0.53682	0.99349	0.94855	D	AEFBI	0.935786	0.93115	D	0.223423782744756	0.52335	3.408396	0.272362554212518	0.53931	3.559894	0.999999999990351	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.542086	0.14980	0	.	.	3.78	3.78	0.42629	9.911000	0.98680	11.737000	0.95113	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:1.0:0.0	15.812	0.78346	632	0.64850	F-BAR domain|PACSIN1, F-BAR;F-BAR domain;F-BAR domain|PACSIN1, F-BAR;F-BAR domain|PACSIN1, F-BAR	.	.	.	.	.	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	0.1176	99.15	53	chr6	34528877	.	G	C	99.15	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-2.849e+00;DP=1213;ExcessHet=0.6776;FS=95.332;InbreedingCoeff=-0.1646;MLEAC=4;MLEAF=0.118;MQ=60.00;MQRankSum=0.00;QD=0.42;ReadPosRankSum=1.10;SOR=7.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,9:50:5:0|1:34528877_G_C:5,0,1147:34528877	13	0	4	4
chr6	34528878	34528878	G	C	splicing	PACSIN1	NM_020804:exon4:c.456+1G>C;NM_001199583:exon4:c.456+1G>C	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.906	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.206	16.74	3.65	2.045	3.808	15.531	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.999e-06	0.0002	8.365e-06	5.622e-06	9.215e-06	3.54e-06	2.58e-06	4.66e-06	3.4e-06	0	0	0	0	0	0	9.215e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248786	0.78487	D	0.119587	0.78208	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	7.107861	0.96150	35	0.99376011016101284	0.61671	0.99663	0.98459	D	AEFBI	.	.	.	0.983139481429135	0.95203	13.40136	0.770643117215695	0.87689	9.309817	0.999999999960085	0.74766	0.078448	0.01964	0	0.097471	0.02872	0	0.083675	0.02720	0	0.058706	0.01089	0	0.938909	0.59992	3.65	3.65	0.40985	9.429000	0.96714	11.737000	0.95113	0.616000	0.49467	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.531	0.75701	632	0.64850	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	524.24	53	chr6	34528878	.	G	C	524.24	.	AC=9;AF=0.375;AN=24;BaseQRankSum=-7.030e-01;DP=1276;ExcessHet=4.7172;FS=105.745;InbreedingCoeff=-0.4484;MLEAC=11;MLEAF=0.458;MQ=60.00;MQRankSum=0.00;QD=1.00;ReadPosRankSum=0.745;SOR=9.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,9:50:5:0|1:34528877_G_C:5,0,1147:34528877	3	0	9	9
chr6	35233280	35233280	A	G	exonic	SCUBE3	.	nonsynonymous SNV	SCUBE3:NM_001303136:exon6:c.A688G:p.T230A	.	.	431	1027	60	4	0	68	0.0320452	.	.	722010	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.68	T	0.135	B	0.107	B	0.000	D	0.911	N	-0.695	N	1.63	T	-0.679	T	0.307	T	0.087	1.377	10.54	4.58	1.704	1.686	8.145	0.166	.	0.0068	0.0091853	0.0090	0.0013	0.0065	0.0095	0.0033	0.0101	0.0113	0.0132	0.0085833	1327	154602	rs79753406	0.0092	0.0092	0.0090	0.0094	0.0347	0.0091	0.0090	0.0331	0.0325	0.0017	0.0074	0.0135	0.0347	0.0039	0.0294	0.0083	0.0094	0.0132	0.0072	0.0072	0.0069	0.0075	0.0143	0.0069	0.0067	0.0116	0.0107	0.0018	0.0011	0.0104	0.0104	0.0143	0.0034	0.0240	0.0092	0.0143	0.0105	0.373	0.11442	T	0.43	0.13713	T	0.083	0.24734	B	0.05	0.25278	B	0.000103	0.50451	D	0.133022	0.911284	0.27501	N	0.21	0.09513	N	-3.67	0.95247	D	-0.97	0.25770	N	0.23	0.25867	-0.6791	0.61414	T	0.307	0.67768	T	10	0.010085374	0.00226	T	.	.	.	0.166	0.42578	.	.	0.805243615292	0.80342	0.4329722714988088	0.43214	0.771633514388	0.64795	0.544402062893	0.45068	T	0.063282	0.32135	T	-0.369348	0.03627	T	-0.292288	0.45535	T	0.0198556633531013	0.00687	T	0.50295	0.15803	T	0.09223358	0.21633	0.088297546	0.20580	0.09223358	0.21633	0.088297546	0.20580	-3.328	0.14100	T	.	.	0.055	0.00412	B	.	.	2.792315	0.36707	20.3	0.94186847558303533	0.24411	0.84137	0.43221	D	AEFBI	0.410819	0.48154	N	-0.500490880925575	0.22065	1.175561	-0.282590628222039	0.28670	1.600411	0.983709014879107	0.30601	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.58	4.58	0.56077	1.627000	0.36661	4.166000	0.42242	0.754000	0.88378	0.963000	0.33788	0.997000	0.33255	0.981000	0.58702	0.6772:0.0:0.0:0.3228	8.145	0.30267	248	0.90287	EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2303.98	37	chr6	35233280	.	A	G	2303.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=893;ExcessHet=0.0000;FS=5.421;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.32;ReadPosRankSum=0.524;SOR=0.537	GT:AD:DP:GQ:PL	0/1:84,89:173:99:2318,0,2164	20	0	1	0
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.23	B	0.175	B	0.084	U	1.000	N	0.69	N	-1.03	T	-0.990	T	0.142	T	0.147	3.036	16.13	4.1	0.844	5.048	9.160	0.172	0.0249937709916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18889	T	0.115	0.36630	T	0.23	0.30574	B	0.175	0.35598	B	0.084103	0.20715	U	0.331596	1	0.81001	D	1.53	0.38800	L	-1.03	0.76430	T	-1.81	0.42575	N	0.223	0.25006	-0.9904	0.32500	T	0.142	0.46275	T	10	0.18578598	0.34015	T	0.024994	0.47983	T	0.172	0.43662	0.345	0.33950	0.768449596528	0.76632	.	.	0.213063653711	0.23811	0.510883152485	0.40347	T	0.005896	0.05345	T	-0.0814537	0.39477	T	-0.354779	0.38655	T	0.691809058189392	0.40331	D	0.642236	0.25428	T	0.08893341	0.20763	0.1472266	0.34849	0.08893341	0.20763	0.1472266	0.34848	-5.181	0.38748	T	.	.	0.096	0.17146	B	.;.	.;.	2.766790	0.36307	20.2	0.99632889771362543	0.76142	0.95053	0.63266	D	ALL	0.609417	0.59862	D	-0.14403188675947	0.35489	2.039126	0.00882416738919273	0.40123	2.390	0.999999999999999	0.74766	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.631631	0.49550	0	.	.	5.26	4.1	0.47196	4.497000	0.60088	6.716000	0.56415	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9126:0.0:0.0874:0.0	9.160	0.36180	789	0.46346	Patatin-like phospholipase domain;Patatin-like phospholipase 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	865.03	33	chr6	36291365	.	A	G	865.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=-9.970e-01;DP=1831;ExcessHet=1.7912;FS=51.070;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=60.00;MQRankSum=0.00;QD=1.05;ReadPosRankSum=0.872;SOR=9.442	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:99,11:110:90:0|1:36291365_A_G:90,0,3950:36291365	15	0	6	0
chr6	36330545	36330545	T	G	exonic	BNIP5	.	nonsynonymous SNV	BNIP5:NM_001010903:exon2:c.A146C:p.H49P,	.	.	430	1052	38	2	0	42	0.0195713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.001	B	0.001	B	0.778	N	1.000	N	0.695	N	0.94	T	-0.989	T	0.026	T	0.189	2.009	12.68	1.31	0.001	-0.143	4.129	0.013	0.0031181435307	0.0018	0.00139776	0.0023	0.0002	0.0008	0.0002	0	0.0025	0.0034	0.0055	0.0020828	322	154602	rs150068380	0.0016	0.0016	0.0014	0.0018	0.0107	0.0016	0.0015	0.0086	0.0078	0.0006	0.0017	0.0078	7.557e-05	5.638e-05	0.0107	0.0013	0.0028	0.0047	0.0014	0.0014	0.0011	0.0017	0.0058	0.0013	0.0012	0.0041	0.0036	0.0002	0	0.0029	0.0069	0	0	0.0272	0.0014	0.0033	0.0058	0.108	0.29420	T	0.224	0.25591	T	0.001	0.07471	B	0.001	0.04355	B	0.777539	0.06634	N	1.144070	1	0.08975	N	1.445	0.36358	L	0.94	0.43672	T	-3.45	0.67589	D	0.181	0.19593	-0.9891	0.32828	T	0.026	0.11309	T	10	0.005949497	0.00133	T	0.003118	0.06786	T	0.013	0.01715	.	.	0.0551355673512	0.04727	0.025810512824234532	0.02532	0.0174000668708	0.01692	.	.	.	0.096922	0.39923	T	-0.621057	0.00108	T	-0.663929	0.08003	T	0.00478911691984368	0.00051	T	0.285671	0.05095	T	0.20796922	0.43018	0.21230693	0.45695	0.20796922	0.43018	0.21230693	0.45694	-1.757	0.02384	T	.	.	0.073	0.04681	B	.	.	0.747257	0.11166	7.807	0.67805466130581393	0.08465	0.01477	0.04919	N	AEFDBI	0.110001	0.21828	N	-1.16762852803248	0.05495	0.2506952	-1.18936839091032	0.06087	0.2919138	0.10476118711672	0.16484	0.516011	0.20929	0	0.610034	0.51514	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	4.33	1.31	0.20837	-0.355000	0.07721	-0.137000	0.11557	-0.375000	0.05424	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.5345:0.2178:0.2477	4.129	0.09610	840	0.37365	.	.	.	.	.	.	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	1575.98	34	chr6	36330545	.	T	G	1575.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.104;DP=803;ExcessHet=0.0000;FS=0.694;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=0.188;SOR=0.830	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1590,0,1530	20	0	1	0
chr6	38770512	38770512	A	G	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon11:c.A1066G:p.M356V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29	T	0.044	B	0.081	B	0.000	D	0.914	D	1.825	L	0.55	T	-1.000	T	0.097	T	0.636	1.938	12.44	5.45	2.201	3.342	14.042	0.145	0.0103632423911	.	.	8.539e-06	0	0	0	0	0	0	6.369e-05	6.5e-06	1	154602	rs759089510	7.565e-06	8.209e-06	4.104e-06	1.106e-05	2.378e-05	4.06e-06	2.97e-06	3.95e-06	2.76e-06	0	0	0	0	0	0	8.107e-06	0	2.378e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.719	0.11156	T	.	.	.	0.044	0.21686	B	0.081	0.28987	B	0.000036	0.55875	D	0.161043	0.913794	0.36482	D	1.495	0.37439	L	0.55	0.54728	T	-2.8	0.60827	D	0.254	0.30461	-0.9999	0.29945	T	0.097	0.36289	T	10	0.18854716	0.34414	T	0.010363	0.26807	T	0.145	0.38592	0.493	0.58048	0.574230370252	0.57090	0.3990755174059954	0.39822	0.129854084997	0.14643	0.72917509079	0.71386	T	0.031776	0.22192	T	0.0183235	0.54155	T	-0.211456	0.53556	T	0.276729702949524	0.24033	T	0.806819	0.45619	T	0.61265874	0.73370	0.66389596	0.80297	0.61265874	0.73371	0.66389596	0.80298	-3.865	0.21779	T	.	.	0.209	0.43572	B	.;.;.	.;.;.	2.684136	0.35018	19.79	0.94927706553242064	0.25808	0.93698	0.58936	D	AEFBI	0.544923	0.55965	D	0.0225698014627798	0.42882	2.59225	0.181438313322753	0.48831	3.093803	0.999999997796603	0.74766	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.635259	0.50027	0	.	.	5.45	5.45	0.79688	2.494000	0.44988	9.175000	0.79052	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	14.042	0.64202	594	0.68584	Dynein heavy chain, domain-1;Dynein heavy chain, domain-1;Dynein heavy chain, domain-1	.	.	.	.	.	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	1110.98	33	chr6	38770512	.	A	G	1110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.268e+00;DP=777;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.736;SOR=0.546	GT:AD:DP:GQ:PL	0/1:49,49:98:99:1125,0,1209	20	0	1	0
chr6	38845636	38845636	G	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon35:c.G4257T:p.E1419D	.	YES	437	1043	40	2	0	44	0.0206573	.	.	239918	Spermatogenic_failure_46|Primary_ciliary_dyskinesia	MONDO:MONDO:0033673,MedGen:C5436799,OMIM:619095|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.6	T	0.302	B	0.229	B	0.076	N	1.000	N	0.53	N	0.15	T	-0.962	T	0.068	T	0.128	2.169	13.21	-2.42	-0.212	-1.650	1.224	0.062	.	0.0053	0.00638978	0.0075	0.0008	0.0035	0.0002	0.0009	0.0072	0.0099	0.0221	0.0071474	1105	154602	rs61757219	0.0068	0.0068	0.0062	0.0074	0.0226	0.0067	0.0066	0.0217	0.0214	0.0010	0.0036	0.0038	0.0002	0.0012	0.0187	0.0064	0.0067	0.0226	0.0050	0.0050	0.0050	0.0049	0.0191	0.0047	0.0046	0.0159	0.0148	0.0009	0	0.0056	0.0017	0.0002	0.0011	0.0272	0.0074	0.0076	0.0191	0.438	0.09319	T	.	.	.	0.302	0.32608	B	0.229	0.38155	B	0.075996	0.21190	N	0.509796	0.999999	0.08975	N	1	0.25136	L	0.15	0.60734	T	-0.51	0.17624	N	0.18	0.20129	-0.9620	0.38800	T	0.068	0.27980	T	10	0.004161775	0.00082	T	.	.	.	0.062	0.17934	0.443	0.49975	0.540518506614	0.53704	0.3513559497602917	0.35049	0.110355847476	0.12451	0.426474988461	0.28726	T	0.009835	0.40305	T	-0.560414	0.00252	T	-0.560853	0.16297	T	0.0066639197636007	0.00075	T	0.59804	0.22252	T	0.04480855	0.07226	0.052961834	0.08829	0.035336696	0.04141	0.041304443	0.04664	-1.842	0.02637	T	.	.	0.071	0.03736	B	.;.;.	.;.;.	1.375734	0.17868	13.41	0.99028428054756534	0.50742	0.05381	0.11245	N	AEFBI	0.083879	0.16995	N	-0.739642811632707	0.14916	0.7471771	-0.706619607950186	0.16795	0.8901936	2.54996149175176E-4	0.06190	0.623552	0.39893	0	0.588015	0.36545	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.53	-2.42	0.06164	-1.271000	0.02936	0.532000	0.19257	0.676000	0.76740	0.001000	0.13787	0.995000	0.32472	0.998000	0.85391	0.2452:0.0999:0.2495:0.4053	1.224	0.01813	447	0.79583	Dynein heavy chain, domain-2;Dynein heavy chain, domain-2;Dynein heavy chain, domain-2	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.04762	2961.11	34	chr6	38845636	.	G	T	2961.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-2.419e+00;DP=960;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.18;ReadPosRankSum=0.995;SOR=0.673	GT:AD:DP:GQ:PL	0/1:79,70:149:99:1562,0,2088	19	0	2	0
chr6	38853315	38853315	C	T	exonic	DNAH8	.	nonsynonymous SNV	DNAH8:NM_001371:exon40:c.C5050T:p.L1684F	.	.	437	1080	5	0	0	5	0.00230947	.	.	395486	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.17	T	0.783	P	0.26	B	0.000	D	1.000	D	1.33	L	1.73	T	-1.125	T	0.040	T	0.321	2.654	14.84	5.59	2.636	2.122	14.774	0.112	.	0.0058	0.00778754	0.0017	0.0180	0.0007	0	0	7.502e-05	0	0	0.0016753	259	154602	rs111580219	0.0005	0.0005	0.0006	0.0005	0.0179	0.0005	0.0005	0.0167	0.0162	0.0179	0.0011	0	0	0	0.0024	4.318e-05	0.0012	3.484e-05	0.0049	0.0049	0.0050	0.0047	0.0169	0.0046	0.0045	0.0158	0.0154	0.0169	0	0.0016	0	0	0	0.0034	7.349e-05	0.0043	0	0.194	0.22138	T	.	.	.	0.783	0.44368	P	0.26	0.39460	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.78	0.46185	L	1.56	0.29602	T	-3.58	0.69118	D	0.742	0.78072	-1.1250	0.02037	T	0.040	0.17020	T	10	0.005628437	0.00125	T	.	.	.	0.112	0.31546	.	.	0.514923749907	0.51134	0.41884509054221053	0.41800	0.158307195494	0.17880	0.575615763664	0.49468	T	0.08047	0.37244	T	-0.486203	0.00682	T	-0.456894	0.26938	T	0.0273121769269602	0.01589	T	0.905309	0.66640	D	0.4350573	0.63083	0.4191243	0.65916	0.44525686	0.63741	0.4057897	0.64970	-8.286	0.63002	D	.	.	0.410	0.60106	A	.;.;.	.;.;.	3.141485	0.42488	21.5	0.9959489158221656	0.73866	0.71937	0.35231	D	AEFBHCI	0.172834	0.29989	N	0.268205161652581	0.54544	3.619765	0.366154450844071	0.59486	4.126936	0.79945527728395	0.24160	0.623552	0.39893	0	0.563428	0.19063	0	0.547309	0.15389	0	0.579976	0.35079	0	.	.	5.59	5.59	0.84677	2.676000	0.46550	4.873000	0.45587	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.999000	0.91618	0.0:0.9289:0.0:0.0711	14.774	0.69321	481	0.77356	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	776.98	33	chr6	38853315	.	C	T	776.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=755;ExcessHet=0.0000;FS=2.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=3.00;SOR=1.071	GT:AD:DP:GQ:PL	0/1:34,29:63:99:791,0,823	20	0	1	0
chr6	39864488	39864488	G	A	exonic	DAAM2	.	nonsynonymous SNV	DAAM2:NM_001201427:exon4:c.G314A:p.R105H	.	.	357	1160	2	0	3	5	0.000861326	.	.	3210156	DAAM2-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.01	D	0.997	D	0.883	P	0.000	D	1.000	D	2.095	M	-2.5	D	0.528	D	0.716	D	0.52	4.509	24.2	5.89	2.793	3.593	12.369	0.588	.	0.0046	0.00499201	0.0019	0.0165	0.0017	0	0	0.0009	0.0027	0	0.0016623	257	154602	rs6919807	0.0008	0.0008	0.0009	0.0008	0.0168	0.0008	0.0008	0.0157	0.0152	0.0168	0.0019	0.0093	0	1.875e-05	0.0024	0.0002	0.0019	5.824e-05	0.0046	0.0046	0.0049	0.0043	0.0146	0.0043	0.0042	0.0137	0.0133	0.0146	0	0.0025	0.0092	0	0	0	0.0003	0.0028	0	0.004	0.65419	D	0.023	0.57104	D	0.997	0.70673	D	0.883	0.62698	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.845	0.48678	L	-2.5	0.89219	D	-2.91	0.60982	D	0.52	0.62950	0.528	0.90935	D	0.716	0.90246	D	10	0.0097029805	0.00218	T	.	.	.	0.588	0.83526	.	.	0.744706209843	0.74241	0.6111600656085132	0.61048	0.716970076238	0.62024	0.443219542503	0.31017	T	0.247985	0.94636	T	-0.224075	0.17439	T	-0.0816716	0.64780	T	0.0343484367112076	0.02698	T	0.927007	0.73102	D	0.3475434	0.56875	0.22364166	0.47249	0.3475434	0.56876	0.22364166	0.47248	-9.084	0.68235	D	.	.	0.238	0.48303	B	.;.;.;.	.;.;.;.	5.488373	0.91455	32	0.99943015884002429	0.99848	0.91417	0.53491	D	AEFDBI	0.527504	0.54942	D	0.698788168989556	0.79552	7.101965	0.70569188942867	0.82810	7.860454	0.99999925174444	0.74766	0.559995	0.30671	0	0.573888	0.26702	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.89	5.89	0.94758	4.291000	0.58817	9.989000	0.82972	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0777:0.0:0.9223:0.0	12.369	0.54571	651	0.62880	Formin, GTPase-binding domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, GTPase-binding domain;Formin, GTPase-binding domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, GTPase-binding domain;.;Formin, GTPase-binding domain|Rho GTPase-binding/formin homology 3 (GBD/FH3) domain|Formin, GTPase-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	860.98	38	chr6	39864488	.	G	A	860.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.593;DP=834;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.57;ReadPosRankSum=-1.376e+00;SOR=0.620	GT:AD:DP:GQ:PL	0/1:54,36:90:99:875,0,1335	20	0	1	0
chr6	42142395	42142395	T	C	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon1:c.A50G:p.K17R,	.	.	391	1081	48	2	0	52	0.0234869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	.	.	.	.	0.025	N	0.993	N	0.695	N	0.38	T	-1.060	T	0.066	T	0.129	3.414	17.53	3.28	0.437	2.036	7.218	0.052	.	0.0061	0.00898562	0.0146	0.0009	0.0099	0.0016	0.0433	0.0091	0.0260	0.0245	0.0035511	549	154602	rs138013556	0.0092	0.0089	0.0088	0.0097	0.0242	0.0091	0.0091	0.0233	0.0230	0.0010	0.0038	0.0034	5.597e-05	0.0180	0.0136	0.0087	0.0080	0.0242	0.0081	0.0081	0.0078	0.0084	0.0238	0.0077	0.0076	0.0203	0.0190	0.0012	0	0.0033	0.0032	0	0.0181	0.0068	0.0118	0.0038	0.0238	0.033	0.44358	D	0.046	0.49120	D	.	.	.	.	.	.	0.025124	0.26142	N	0.263134	0.992795	0.23824	N	1.43	0.35840	L	0.08	0.61559	T	-1.83	0.55821	N	0.094	0.07398	-1.0601	0.11731	T	0.066	0.27087	T	8	0.0038990676	0.00074	T	.	.	.	0.052	0.14661	.	.	.	.	0.1582670425571511	0.15747	.	.	.	.	.	0.026122	0.19398	T	-0.490269	0.00647	T	-0.458761	0.26736	T	0.0113426682460786	0.00168	T	0.630137	0.26349	T	0.08512834	0.19732	0.17037952	0.39143	0.08512834	0.19732	0.17037952	0.39142	-7.258	0.55896	T	.	.	0.112	0.21803	B	.;.	.;.	2.579607	0.33447	19.34	0.99408907045625905	0.63169	0.74913	0.36659	D	AEFDBCI	0.280787	0.39452	N	0.0307429045213938	0.43257	2.622233	0.103904128617391	0.44748	2.750582	0.999999972454606	0.74766	0.455138	0.09556	0	0.563428	0.19063	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	5.66	3.28	0.36691	2.066000	0.41078	2.670000	0.33941	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.1742:0.0:0.8258	7.218	0.25145	797	0.45241	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2840.11	33	chr6	42142395	.	T	C	2840.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.270e-01;DP=875;ExcessHet=0.1072;FS=1.726;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.99;ReadPosRankSum=1.91;SOR=0.778	GT:AD:DP:GQ:PL	0/1:54,70:124:99:1697,0,1256	19	0	2	0
chr6	42923120	42923120	A	C	exonic	PTCRA	.	nonsynonymous SNV	PTCRA:NM_001243168:exon2:c.A152C:p.D51A	.	.	431	1061	30	0	0	30	0.0139405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.973	D	0.004	N	1.000	D	1.1	L	0.37	T	-0.781	T	0.151	T	0.652	3.130	16.46	5.84	2.219	4.917	12.613	0.161	.	7.7e-05	0.00179712	0.0024	0.0002	0	0.0001	0	0.0003	0.0033	0.0160	0.0020634	319	154602	rs200942121	0.0012	0.0012	0.0007	0.0017	0.0171	0.0012	0.0011	0.0164	0.0161	8.961e-05	2.236e-05	0.0009	2.519e-05	0	0.0055	0.0001	0.0017	0.0171	0.0004	0.0004	0.0002	0.0007	0.0101	0.0003	0.0003	0.0079	0.0071	0	0	0	0.0012	0	0	0	0.0002	0.0005	0.0101	0.007	0.59928	D	0.012	0.63918	D	1.0	0.90584	D	0.973	0.72923	D	0.004491	0.33689	N	0.135447	0.999999	0.58761	D	1.935	0.51832	L	0.37	0.57729	T	-6.44	0.91353	D	0.545	0.57177	-0.7808	0.56257	T	0.151	0.47926	T	10	0.006799668	0.00154	T	.	.	.	0.244	0.55061	.	.	0.722683262886	0.72023	0.6095820703114316	0.60890	0.680399982641	0.59990	0.40796661377	0.26175	T	0.495689	0.81830	T	-0.278001	0.10881	T	-0.15848	0.58488	T	0.129005933601172	0.15289	T	0.588541	0.21576	T	0.5270598	0.68663	0.4943703	0.70756	0.5270598	0.68664	0.4943703	0.70756	-7.429	0.57109	T	.	.	0.575	0.69173	P	.;.	.;.	4.410713	0.68226	25.2	0.99476520816795555	0.66633	0.37091	0.25682	N	AEFDGBI	0.490938	0.52821	N	0.00689018640179173	0.42169	2.535691	0.000455088218324518	0.39738	2.360712	0.999999998777156	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	5.84	5.84	0.93373	5.169000	0.64823	11.080000	0.85733	0.756000	0.94297	0.258000	0.24929	1.000000	0.68203	0.594000	0.31239	1.0:0.0:0.0:0.0	12.613	0.55919	298	0.88068	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1603.98	34	chr6	42923120	.	A	C	1603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.09;DP=853;ExcessHet=0.0000;FS=3.019;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.99;ReadPosRankSum=0.070;SOR=0.977	GT:AD:DP:GQ:PL	0/1:87,59:146:99:1618,0,2488	20	0	1	0
chr6	43054407	43054407	C	G	exonic	MRPL2	.	nonsynonymous SNV	MRPL2:NM_015950:exon7:c.G785C:p.R262P,	.	.	429	1064	29	0	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.961	D	0.000	D	1.000	D	3.745	H	0.79	T	0.018	D	0.385	T	0.788	5.199	33	5.53	2.591	5.434	17.645	0.378	.	0.0002	0.00239617	0.0031	0.0003	0.0009	0.0001	0	0.0008	0.0033	0.0187	0.0027167	420	154602	rs199896735	0.0018	0.0018	0.0012	0.0024	0.0196	0.0017	0.0017	0.0188	0.0185	0.0001	0.0013	0.0010	7.557e-05	1.872e-05	0.0078	0.0005	0.0027	0.0196	0.0007	0.0007	0.0005	0.0010	0.0114	0.0006	0.0006	0.0090	0.0081	7.216e-05	0	0.0007	0.0014	0	0	0.0068	0.0005	0.0014	0.0114	0.003	0.68238	D	0.004	0.74150	D	0.999	0.77913	D	0.961	0.70482	D	0.000018	0.62929	D	0.111499	0.99999	0.81001	D	4.05	0.97045	H	0.79	0.49068	T	-4.39	0.77225	D	0.801	0.79696	0.018	0.82623	D	0.385	0.74039	T	10	0.013232887	0.00281	T	.	.	.	0.378	0.69612	.	.	0.800725179388	0.79886	0.8292462785087611	0.82882	0.755948700181	0.64012	0.759919524193	0.75917	T	0.344119	0.71268	T	-0.191816	0.21991	T	-0.0333701	0.68144	D	0.152201805863702	0.17278	T	0.967103	0.88031	D	0.9661541	0.97892	0.88784444	0.94114	0.9661541	0.97892	0.88784444	0.94115	-12.43	0.86883	D	.	.	0.972	0.89775	P	.	.	5.412315	0.90588	31	0.99749668682109593	0.84152	0.95416	0.64634	D	AEFDBCIJ	0.935680	0.93091	D	0.929189333022932	0.93115	11.831	0.851192053610958	0.93086	11.81517	0.999999999944384	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	5.53	5.53	0.82530	5.506000	0.66713	7.574000	0.60786	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	17.645	0.88048	209	0.91859	Ribosomal protein L2, C-terminal|Ribosomal protein L2, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	3025.98	42	chr6	43054407	.	C	G	3025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.777;DP=1060;ExcessHet=0.0000;FS=1.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=-5.110e-01;SOR=0.595	GT:AD:DP:GQ:PL	0/1:131,124:255:99:3040,0,3029	20	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.36	T	0.956	P	0.785	P	0.000	D	0.992	D	0.93	L	-0.64	T	-0.812	T	0.190	T	0.424	2.585	14.60	4.45	1.216	0.876	8.891	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3889	1304.96	82	chr6	44229406	.	C	T	1304.96	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.959e+00;DP=2294;ExcessHet=14.4320;FS=177.510;InbreedingCoeff=-0.6006;MLEAC=16;MLEAF=0.444;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=1.16;SOR=12.393	GT:AD:DP:GQ:PL	0/1:81,32:113:99:120,0,1273	4	0	14	3
chr6	44275648	44275648	C	A	exonic	TMEM151B	.	nonsynonymous SNV	TMEM151B:NM_001137560:exon3:c.C822A:p.H274Q,	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.119	B	0.026	B	0.000	D	1.000	D	0.85	L	.	.	-1.091	T	0.055	T	0.77	2.747	15.15	1.9	0.272	1.069	8.174	0.182	0.0171872977659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.433e-06	6.156e-06	0	1.304e-05	0.0012	3.03e-06	2.19e-06	0.0006	0.0004	0	0	0	0	0	0.0012	1.854e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	0.18626	T	0.202	0.27414	T	0.119	0.26641	B	0.026	0.20792	B	0.000000	0.84330	D	0.000000	0.995609	0.81001	D	1.475	0.37068	L	.	.	.	-2.58	0.55662	D	0.712	0.71498	-1.0908	0.05400	T	0.055	0.23148	T	9	0.3294751	0.50200	T	0.017187	0.38787	T	0.182	0.45420	0.468	0.54052	0.0401082797425	0.02173	0.8921887745522741	0.89188	.	.	0.882853507996	0.94342	D	0.109367	0.42317	T	0.141945	0.68510	D	-0.0338819	0.68111	D	0.862471461296082	0.51278	D	0.788521	0.42806	T	0.4537001	0.64275	0.2534418	0.50992	0.4537001	0.64276	0.2534418	0.50991	-8.717	0.65857	D	.	.	0.908	0.83309	P	.	.	2.107877	0.26822	17.25	0.98056870045640554	0.37913	0.88881	0.49027	D	AEFDBI	0.453091	0.50637	N	-0.385277778945592	0.25993	1.41522	-0.25969925631905	0.29438	1.649315	0.981319633254614	0.30246	0.740716	0.97744	0	0.610034	0.51514	0	0.0	0.00061	3	0.63947	0.58350	0	.	.	4.74	1.9	0.24770	0.820000	0.26979	0.771000	0.21396	0.522000	0.23927	1.000000	0.71638	0.999000	0.35428	0.999000	0.91618	0.0:0.677:0.0:0.323	8.174	0.30433	592	0.68746	.	.	.	.	.	.	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	3204.98	37	chr6	44275648	.	C	A	3204.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.689;DP=981;ExcessHet=0.0000;FS=1.549;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-1.493e+00;SOR=0.801	GT:AD:DP:GQ:PL	0/1:115,126:241:99:3219,0,2937	20	0	1	0
chr6	46167658	46167658	G	A	exonic	ENPP5	.	nonsynonymous SNV	ENPP5:NM_001290073:exon2:c.C323T:p.P108L	.	.	436	1081	5	0	0	5	0.00230734	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.029	B	0.037	B	0.001	D	1.000	D	2.45	M	-0.82	T	-0.533	T	0.285	T	0.294	2.630	14.75	5.33	2.652	5.360	14.275	0.315	0.0398622543945	7.7e-05	0.00159744	0.0015	0.0002	0.0006	0.0009	0	2.998e-05	0	0.0096	0.0012548	194	154602	rs139905945	0.0005	0.0005	0.0003	0.0008	0.0080	0.0005	0.0005	0.0075	0.0073	0.0002	0.0001	0	0.0007	0	0.0005	2.338e-05	0.0006	0.0080	0.0004	0.0004	0.0003	0.0004	0.0087	0.0003	0.0003	0.0066	0.0059	9.627e-05	0	0.0002	0	0.0006	0	0	2.94e-05	0	0.0087	0.037	0.43085	D	0.217	0.26145	T	0.029	0.19866	B	0.037	0.23121	B	0.000687	0.42383	D	0.238651	0.999963	0.52935	D	3.23	0.89537	M	-0.82	0.74053	T	-4.47	0.77881	D	0.199	0.21969	-0.5335	0.67409	T	0.285	0.65715	T	10	0.008126974	0.00184	T	0.039862	0.59054	D	0.315	0.63694	.	.	0.610954812703	0.60782	0.6821739577454536	0.68156	0.353275756154	0.37135	0.448787242174	0.31778	T	0.055201	0.29940	T	-0.319655	0.06926	T	-0.225965	0.52161	T	0.113652769331207	0.13798	T	0.693131	0.30283	T	0.37564963	0.59000	0.29808912	0.55842	0.37564963	0.59000	0.29808912	0.55841	-6.433	0.49767	T	.	.	0.082	0.10931	B	.;.	.;.	4.107269	0.61286	24.3	0.99490322937273845	0.67403	0.95750	0.65995	D	AEFBI	0.655147	0.62758	D	0.225274053045651	0.52426	3.416885	0.35672192929733	0.58914	4.065045	0.382982185895216	0.19977	0.706548	0.73137	0	0.627178	0.54094	0	0.724815	0.87919	0	0.530356	0.10902	0	.	.	5.33	5.33	0.75683	4.665000	0.61241	5.943000	0.51513	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.8513:0.1486	14.275	0.65726	834	0.38640	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2455.98	120	chr6	46167658	.	G	A	2455.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.66;DP=1024;ExcessHet=0.0000;FS=1.969;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.16;ReadPosRankSum=-1.940e-01;SOR=0.907	GT:AD:DP:GQ:PL	0/1:81,81:162:99:2470,0,2222	20	0	1	0
chr6	52684158	52684158	G	A	exonic	TMEM14A	.	nonsynonymous SNV	TMEM14A:NM_014051:exon4:c.G253A:p.G85S,	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	1.0	D	0.999	D	0.000	D	0.997	D	.	.	0.96	T	-0.936	T	0.131	T	0.602	2.594	14.63	5.1	1.498	2.829	9.741	0.363	0.0163742465492	.	.	8.379e-06	0	0	0	0	1.527e-05	0	0	6.5e-06	1	154602	rs5028973	3.422e-06	3.42e-06	4.086e-06	2.752e-06	2.321e-05	1e-06	7.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	1.657e-05	2.321e-05	1.314e-05	1.313e-05	0	2.69e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.15	0.24661	T	0.736	0.05054	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.051435	0.996619	0.43309	D	.	.	.	0.96	0.42888	T	-3.03	0.62747	D	0.559	0.58373	-0.9360	0.43241	T	0.131	0.44228	T	9	0.86963797	0.86224	D	0.016374	0.37594	T	0.363	0.68319	0.814	0.92925	0.594932130068	0.59170	0.7380616767727239	0.73751	0.691632800788	0.60612	0.572891056538	0.49086	T	0.109798	0.42396	T	-0.0637236	0.42324	T	-0.329311	0.41547	T	0.975195229053497	0.70828	D	0.945205	0.79148	D	0.48854962	0.66416	0.51572293	0.72019	0.48854962	0.66416	0.51572293	0.72019	-5.001	0.36851	T	.	.	0.114	0.22825	B	.	.	4.359860	0.67034	25.0	0.99651388895834969	0.77317	0.87583	0.47170	D	AEFBI	0.718557	0.66972	D	0.396952611587394	0.61257	4.324337	0.378117435458028	0.60218	4.206982	0.0468032722833865	0.14705	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.633917	0.49826	0	.	.	5.97	5.1	0.68917	2.412000	0.44263	8.269000	0.76886	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0735:0.0:0.7839:0.1425	9.741	0.39587	923	0.18507	.	.	.	.	.	.	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	1316.98	34	chr6	52684158	.	G	A	1316.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=838;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.37;ReadPosRankSum=-6.280e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:75,52:127:99:1331,0,2019	20	0	1	0
chr6	52832944	52832944	C	G	exonic	GSTA5	.	nonsynonymous SNV	GSTA5:NM_153699:exon6:c.G461C:p.S154T,	.	.	421	1075	26	0	0	26	0.0119485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.019	B	0.094	B	0.000	D	0.799	D	1.585	L	4.66	T	-0.910	T	0.003	T	0.252	0.708	7.776	0.506	-0.029	0.473	6.806	0.110	0.00242195870116	0.0026	0.00179712	0.0024	0.0004	0.0014	0	0.0009	0.0039	0.0055	0.0002	0.0023609	365	154602	rs143520523	0.0027	0.0027	0.0027	0.0028	0.0163	0.0027	0.0026	0.0136	0.0126	0.0009	0.0030	0.0158	2.519e-05	0.0007	0.0163	0.0027	0.0043	0.0007	0.0026	0.0026	0.0029	0.0022	0.0037	0.0024	0.0023	0.0030	0.0027	0.0006	0	0.0037	0.0199	0	0.0005	0.0340	0.0031	0.0043	0.0004	0.211	0.19569	T	0.149	0.32568	T	0.019	0.17989	B	0.094	0.30180	B	0.000000	0.84330	D	0.000000	0.79924	0.34489	D	2.075	0.57047	M	4.66	0.01756	T	-2.23	0.50012	N	0.355	0.39659	-0.9104	0.46805	T	0.003	0.00832	T	10	0.006234616	0.00141	T	0.002422	0.04757	T	0.110	0.31079	.	.	0.186928172975	0.18263	0.2469723761035866	0.24611	0.0577017781432	0.06392	0.533845961094	0.43577	T	0.028882	0.20821	T	-0.544383	0.00315	T	-0.552411	0.17095	T	0.0304873309181359	0.02064	T	0.842116	0.51841	T	0.17287453	0.38002	0.18768579	0.42015	0.17287453	0.38002	0.18768579	0.42014	-6.563	0.50770	T	.	.	0.118	0.25133	B	.;.	.;.	2.182335	0.27816	17.59	0.884820044602464	0.18011	0.55118	0.29784	D	AEFBI	0.138628	0.25998	N	-0.538126603408292	0.20857	1.102685	-0.506398014274513	0.21979	1.191586	2.42712040655439E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	2.66	0.506	0.16163	1.585000	0.36210	0.918000	0.22682	0.545000	0.25583	1.000000	0.71638	0.366000	0.24545	0.956000	0.50813	0.0:0.7118:0.1782:0.1099	6.806	0.22961	644	0.63734	Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-like;Glutathione S-transferase, C-terminal|Glutathione S-transferase, C-terminal-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	2124.98	127	chr6	52832944	.	C	G	2124.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.833e+00;DP=1759;ExcessHet=0.0000;FS=0.524;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=-1.500e+00;QD=10.84;ReadPosRankSum=1.63;SOR=0.701	GT:AD:DP:GQ:PL	0/1:104,92:196:99:2139,0,2832	20	0	1	0
chr6	56597994	56597994	T	G	exonic	DST	.	nonsynonymous SNV	DST:NM_015548:exon28:c.A4072C:p.K1358Q	Epidermolysis bullosa simplex, autosomal recessive 2, Autosomal recessive	.	7	1514	1	0	0	1	0.000330142	.	.	954767	Inborn_genetic_diseases|Hereditary_sensory_and_autonomic_neuropathy_type_6|Epidermolysis_bullosa_simplex_3,_localized_or_generalized_intermediate,_with_BP230_deficiency|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013839,MedGen:C3539003,OMIM:614653,Orphanet:314381|MONDO:MONDO:0014180,MedGen:C3809470,OMIM:615425,Orphanet:412181|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.35	T	0.605	P	0.489	P	0.068	N	0.999	N	1.59	L	1.07	T	-0.639	T	0.269	T	0.208	3.118	16.42	4.56	2.367	5.755	3.741	0.095	0.0197138699703	0.0002	0.000399361	0.0002	0	0.0003	0	0	0.0003	0	0.0002	0.0002005	31	154602	rs149342331	0.0002	0.0002	0.0002	0.0002	0.0011	0.0001	0.0001	0.0006	0.0005	0	0.0008	0.0008	0	3.799e-05	0.0011	0.0001	0.0003	0.0003	0.0002	0.0002	0.0002	0.0003	0.0008	0.0002	0.0001	0.0005	0.0004	0	0	0.0008	0.0009	0	0	0	0.0002	0	0.0006	0.031	0.45039	D	.	.	.	0.534	0.37787	P	0.205	0.37080	B	0.068041	0.21700	N	0.386104	.	.	.	.	.	.	1.07	0.63240	T	-1.45	0.39314	N	0.34	0.38129	-0.6391	0.63184	T	0.269	0.64013	T	9	0.032398313	0.01391	T	0.019714	0.42141	T	0.095	0.27398	.	.	0.629396092934	0.62636	0.09769927878062888	0.09700	0.155923579576	0.17597	0.301511526108	0.10626	T	0.034397	0.23306	T	-0.331844	0.05973	T	-0.324861	0.42040	T	0.0445508772359391	0.04520	T	0.90031	0.66162	D	.	.	.	.	.	.	.	.	-4.732	0.33789	T	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	3.137673	0.42422	21.5	0.98047380825730901	0.37835	0.97380	0.74382	D	AEFDBI	0.754241	0.69418	D	0.153080786021841	0.48958	3.101708	0.274402971797336	0.54050	3.571168	0.999998927820353	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.86	4.56	0.55644	5.630000	0.67480	4.057000	0.41556	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.585000	0.31016	0.0:0.292:0.0:0.708	3.741	0.08055	247	0.90334	.;.;.;.;.	.	.	.	.	.	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	2231.98	73	chr6	56597994	.	T	G	2231.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.56;DP=881;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.41;ReadPosRankSum=0.590;SOR=0.665	GT:AD:DP:GQ:PL	0/1:60,76:136:99:2246,0,1651	20	0	1	0
chr6	63580034	63580034	-	T	exonic	PTP4A1	.	frameshift insertion	PTP4A1:NM_001385266:exon6:c.425dupT:p.S147Ffs*55,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	1298.17	46	chr6	63580033	.	AT	A,ATT	1298.17	.	AC=12,2;AF=0.300,0.050;AN=40;BaseQRankSum=0.307;DP=1171;ExcessHet=14.4320;FS=0.603;InbreedingCoeff=-0.5084;MLEAC=11,1;MLEAF=0.275,0.025;MQ=60.00;MQRankSum=0.00;QD=1.92;ReadPosRankSum=-1.130e-01;SOR=0.762	GT:AD:DP:GQ:PL	0/1:35,12,2:51:99:175,0,783,272,714,1123	6	0	12	1
chr6	64307042	64307042	A	T	exonic	EYS	.	nonsynonymous SNV	EYS:NM_001142800:exon30:c.T6119A:p.V2040D	Retinitis pigmentosa 25	.	7	1481	32	2	0	36	0.012008	.	.	140960	Retinitis_pigmentosa|not_specified|Retinitis_pigmentosa_25|not_provided	Human_Phenotype_Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MedGen:CN169374|MONDO:MONDO:0011272,MedGen:C1864446,OMIM:602772,Orphanet:791|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.62	T	1.0	D	0.995	D	.	.	1.000	D	0	N	-0.05	T	-0.903	T	0.130	T	0.509	3.985	20.4	5.08	1.916	4.955	12.403	0.296	0.106531053532	.	0.000998403	0.0019	0.0005	0.0051	0	0	0.0024	0.0053	0.0018	0.0004722	73	154602	rs201580493	0.0011	0.0011	0.0011	0.0012	0.0277	0.0011	0.0011	0.0242	0.0228	0.0008	0.0035	0.0051	0	2.045e-05	0.0277	0.0008	0.0027	0.0013	0.0017	0.0017	0.0014	0.0019	0.0068	0.0015	0.0014	0.0058	0.0054	0.0005	0.0055	0.0068	0.0061	0	0	0.0306	0.0011	0.0081	0.0006	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.992	0.83170	D	.	.	.	.	0.982384	0.39886	D	0.345	0.11182	N	-0.05	0.63403	T	-0.91	0.25332	N	0.416	0.45615	-0.9029	0.47684	T	0.130	0.43968	T	9	0.009310007	0.00210	T	0.106531	0.78218	D	0.296	0.61616	.	.	0.657879018388	0.65502	0.17429425445175542	0.17348	0.0575821773267	0.06375	0.401550829411	0.25284	T	0.041997	0.26039	T	-0.326218	0.06401	T	-0.242522	0.50553	T	0.0362125280277795	0.03018	T	0.586341	0.21412	T	0.37975034	0.59298	0.38749006	0.63616	0.4166158	0.61867	0.3902194	0.63822	-4.209	0.26882	T	0.646343039558821	0.71780	0.586	0.74265	P	.;.	.;.	3.585603	0.50567	23.0	0.98577048346978069	0.43193	0.91081	0.52822	D	AEBI	0.447865	0.50333	N	0.269837877087226	0.54627	3.627768	0.323269287413935	0.56910	3.855168	0.0040926313466878	0.10414	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	5.489000	0.66595	3.899000	0.40339	0.756000	0.94297	0.852000	0.30477	0.081000	0.22384	0.993000	0.69303	1.0:0.0:0.0:0.0	12.403	0.54755	455	0.79073	.;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	1	0	0	0	0	0	0	0.02381	1068.98	34	chr6	64307042	.	A	T	1068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.227e+00;DP=776;ExcessHet=0.0000;FS=4.251;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.88;ReadPosRankSum=0.759;SOR=0.368	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1083,0,974	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	0/2:26,0,18,0:44:99:673,751,1843,0,1092,1032,751,1843,1092,1843	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	0/2:26,0,18,0:44:99:673,751,1843,0,1092,1032,751,1843,1092,1843	3	8	1	0
chr6	84152708	84152708	T	G	exonic	CEP162	.	nonsynonymous SNV	CEP162:NM_001286206:exon23:c.A3238C:p.S1080R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.113	B	0.037	B	0.805	N	1.000	N	0.895	L	2.13	T	-0.945	T	0.014	T	0.133	-0.422	2.033	-1.56	-0.082	0.580	12.033	0.026	0.00728508070162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.054e-06	2.052e-06	1.362e-06	2.752e-06	0.0003	5.5e-07	1.5e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.14595	T	0.487	0.11656	T	0.113	0.26349	B	0.037	0.23121	B	0.804541	0.06789	N	1.087340	1	0.08975	N	1.355	0.33814	L	2.13	0.19588	T	-1.23	0.33598	N	0.193	0.25989	-0.9449	0.41830	T	0.014	0.05753	T	10	0.1229122	0.23325	T	0.007285	0.19307	T	0.026	0.05648	0.158	0.06178	0.0482279557977	0.04254	0.14281800754448878	0.14204	0.0226536047655	0.02288	0.247102752328	0.03469	T	0.020535	0.16154	T	-0.296381	0.09006	T	-0.663507	0.08032	T	0.0676487684249878	0.08318	T	0.737326	0.35372	T	0.09207325	0.21592	0.0910751	0.21393	0.09207325	0.21591	0.0910751	0.21393	-4.238	0.27298	T	.	.	0.174	0.38172	B	.;.;.	.;.;.	1.226115	0.16205	12.39	0.77327836076152723	0.11830	0.21369	0.21377	N	AEFBI	0.125263	0.24169	N	-0.953952551814535	0.09604	0.4552653	-0.987017548675938	0.10076	0.5052437	1.15749270027658E-5	0.02871	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.6	-1.56	0.08080	0.598000	0.23774	0.678000	0.20656	0.663000	0.56723	0.216000	0.24491	0.000000	0.08366	0.025000	0.12405	0.0:0.6022:0.0:0.3978	12.033	0.52701	562	0.71143	.;.;.	.	.	.	.	.	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	1440.98	33	chr6	84152708	.	T	G	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.809e+00;DP=775;ExcessHet=0.0000;FS=1.604;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.669;SOR=0.921	GT:AD:DP:GQ:PL	0/1:48,57:105:99:1455,0,1295	20	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.37	T	0.097	B	0.11	B	0.099	N	1.000	N	1.04	L	1.55	T	-0.985	T	0.016	T	0.051	1.919	12.37	-6.98	-1.253	0.061	8.727	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	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	0.3421	1158.48	77	chr6	87418396	.	G	C	1158.48	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-1.018e+00;DP=1449;ExcessHet=12.7758;FS=261.195;InbreedingCoeff=-0.5695;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=1.28;ReadPosRankSum=1.16;SOR=11.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,26:86:99:.:.:165,0,969	6	0	13	2
chr6	89693144	89693144	G	C	exonic	MDN1	.	nonsynonymous SNV	MDN1:NM_014611:exon63:c.C9886G:p.L3296V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.874	P	0.000	D	0.577	D	2.43	M	3.79	T	-1.152	T	0.024	T	0.493	0.234	5.265	5.05	2.509	3.838	10.100	0.205	0.0160371383561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	.	.	.	0.999	0.77913	D	0.874	0.62049	P	0.000002	0.62929	D	0.000000	0.577338	0.32345	D	2.555	0.74557	M	3.79	0.03809	T	-2.13	0.48354	N	0.422	0.48963	-1.1521	0.00963	T	0.024	0.10329	T	10	0.48533344	0.60674	T	0.016037	0.37096	T	0.205	0.49236	0.38	0.39645	0.329044607051	0.32520	0.41771804153966446	0.41687	0.645998904403	0.58027	0.388187289238	0.23415	T	0.011553	0.10295	T	-0.0923919	0.37681	T	-0.370491	0.36831	T	0.891441524028778	0.54240	D	0.820618	0.47957	T	0.26421723	0.49488	0.15259548	0.35895	0.26421723	0.49488	0.15259548	0.35894	-5.715	0.43827	T	.	.	0.174	0.38080	B	.;.	.;.	2.979128	0.39734	21.0	0.85201107609771498	0.15747	0.96675	0.70342	D	AEFBI	0.274022	0.38930	N	0.382413955153428	0.60468	4.236139	0.250633982971249	0.52686	3.441739	0.999804341359449	0.43304	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.674467	0.66132	0	.	.	5.05	5.05	0.67566	4.806000	0.62261	11.794000	0.96459	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.030000	0.13115	0.1256:0.0:0.8744:0.0	10.100	0.41670	800	0.44535	.;.	.	.	.	.	.	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	1127.98	38	chr6	89693144	.	G	C	1127.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.350e+00;DP=916;ExcessHet=0.0000;FS=5.394;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.67;ReadPosRankSum=0.181;SOR=0.326	GT:AD:DP:GQ:PL	0/1:45,44:89:99:1142,0,1317	20	0	1	0
chr6	131693564	131693564	C	T	exonic	ENPP3	.	nonsynonymous SNV	ENPP3:NM_005021:exon15:c.C1352T:p.A451V,	.	.	436	1082	4	0	0	4	0.00184502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.96	D	0.764	P	0.000	D	1.000	D	2.17	M	-0.71	T	-0.285	T	0.358	T	0.325	3.616	18.40	5.8	2.730	3.076	12.881	0.399	0.0445526449192	.	.	3.295e-05	0	0	0	0	4.496e-05	0	6.057e-05	2.59e-05	4	154602	rs762082474	3.284e-05	3.283e-05	3.949e-05	2.613e-05	0.0005	2.544e-05	2.249e-05	0.0001	7.544e-05	0	0	0	0	0	0.0005	2.968e-05	4.969e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0005	0	0.023	0.48186	D	0.09	0.40267	T	0.96	0.55278	D	0.764	0.56591	P	0.000237	0.47286	D	0.146398	0.998695	0.45291	D	2.27	0.64531	M	-0.71	0.72889	T	-3.45	0.67589	D	0.565	0.58883	-0.2855	0.75391	T	0.358	0.72045	T	10	0.47347283	0.60003	T	0.044553	0.61547	D	0.399	0.71321	0.511	0.60846	0.784071616257	0.78207	0.8078388473886524	0.80738	0.110544938361	0.12480	0.519361793995	0.41537	T	0.296343	0.66898	T	-0.153753	0.27726	T	-0.278336	0.46973	T	0.868164837360382	0.51814	D	0.927007	0.73102	D	0.46151167	0.64765	0.23648003	0.48921	0.46151167	0.64765	0.23648003	0.48920	-8.433	0.63984	D	.	.	0.160	0.42022	B	.;.;.	.;.;.	4.037467	0.59751	24.1	0.99899527844550939	0.97199	0.86596	0.45909	D	AEFDBI	0.427788	0.49159	N	0.532557980882283	0.69028	5.299053	0.506557466790013	0.68431	5.218988	0.959939086127973	0.28457	0.487112	0.14033	0	0.59043	0.45803	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.8	5.8	0.92081	3.381000	0.52188	4.685000	0.44339	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.596000	0.31288	0.0:0.9218:0.0:0.0782	12.881	0.57410	872	0.31118	.;.;.	.	.	.	.	.	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	2352.98	36	chr6	131693564	.	C	T	2352.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.498e+00;DP=855;ExcessHet=0.0000;FS=0.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.07;ReadPosRankSum=-8.980e-01;SOR=0.768	GT:AD:DP:GQ:PL	0/1:82,98:180:99:2367,0,2022	20	0	1	0
chr6	142419953	142419953	C	A	exonic	ADGRG6	.	nonsynonymous SNV	ADGRG6:NM_001032394:exon21:c.C3084A:p.N1028K	Lethal congenital contracture syndrome 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.972	D	0.866	P	0.022	N	1.000	D	1.54	L	1.27	T	-0.966	T	0.057	T	0.1	3.434	17.62	3.07	0.368	0.388	9.040	0.129	0.0129970001048	.	.	8.284e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs760542668	6.843e-07	6.84e-07	0	1.376e-06	1.159e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.36310	T	.	.	.	0.972	0.57405	D	0.866	0.61580	P	0.021683	0.26783	N	0.391839	0.999389	0.48079	D	.	.	.	1.27	0.36146	T	-0.9	0.24244	N	0.218	0.31590	-0.9657	0.38073	T	0.057	0.24018	T	10	0.18769065	0.34291	T	0.012997	0.32054	T	0.129	0.35316	0.418	0.45873	0.15556083564	0.15200	0.7355524152700611	0.73500	0.357179526398	0.37446	0.434969484806	0.29889	T	0.140736	0.47542	T	-0.313424	0.07449	T	-0.591134	0.13567	T	0.52714698261413	0.33628	D	0.954005	0.83632	D	0.042335704	0.06401	0.054845586	0.09511	0.042335704	0.06400	0.054845586	0.09511	-10.031	0.77277	D	.	.	0.288	0.51993	B	.;.;.;.	.;.;.;.	2.585181	0.33527	19.37	0.99476431723784586	0.66633	0.95430	0.64689	D	AEFBI	0.627433	0.60989	D	-0.265130396349804	0.30504	1.701496	-0.226040266541263	0.30607	1.724736	0.999044908897005	0.38290	0.706548	0.73137	0	0.573888	0.26702	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	5.77	3.07	0.34476	0.411000	0.20836	0.257000	0.16498	-0.842000	0.02783	0.978000	0.35038	0.976000	0.30059	0.945000	0.48827	0.0:0.6566:0.0:0.3434	9.040	0.35471	737	0.53483	GPCR, family 2-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	2110.98	35	chr6	142419953	.	C	A	2110.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.17;DP=871;ExcessHet=0.0000;FS=2.592;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=-1.651e+00;SOR=0.702	GT:AD:DP:GQ:PL	0/1:95,84:179:99:2125,0,2406	20	0	1	0
chr6	142774723	142774723	T	C	exonic	HIVEP2	.	nonsynonymous SNV	HIVEP2:NM_006734:exon5:c.A16G:p.T6A,	Mental retardation, autosomal dominant 43, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.702	P	0.182	B	0.000	D	0.854	N	1.61	L	4.39	T	-0.937	T	0.004	T	0.383	2.628	14.75	5.56	2.240	3.261	16.007	0.151	0.00417674175607	.	.	8.369e-06	0	0	0	0	0	0	6.377e-05	6.5e-06	1	154602	rs768390940	1.368e-06	1.368e-06	1.362e-06	1.375e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.994e-07	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.068	0.44106	T	0.702	0.41889	P	0.182	0.35926	B	0.000007	0.62929	D	0.116985	0.854439	0.28449	N	1.6	0.40776	L	4.39	0.02234	T	-1.11	0.28703	N	0.469	0.50508	-0.9371	0.43072	T	0.004	0.01435	T	10	0.14596918	0.27682	T	0.004177	0.10058	T	0.151	0.39764	0.093	0.01151	0.0675242888579	0.06100	0.23686734249579014	0.23601	0.228455159554	0.25396	0.522357404232	0.41958	T	0.128288	0.45585	T	-0.20374	0.20267	T	-0.429805	0.29957	T	0.234125018333234	0.22146	T	0.774523	0.40643	T	0.12514676	0.29344	0.10726289	0.25818	0.12514676	0.29344	0.10726289	0.25818	-3.393	0.14963	T	.	.	0.097	0.16010	B	.;.;.	.;.;.	3.111044	0.41967	21.5	0.99289347135661754	0.58219	0.91213	0.53082	D	AEFDBI	0.414261	0.48360	N	0.268943259271151	0.54580	3.623418	0.367354419991213	0.59559	4.134883	0.999633534003581	0.41205	0.719381	0.83141	0	0.723133	0.82719	0	0.566861	0.19136	0	0.655142	0.61905	0	.	.	5.56	5.56	0.83678	3.314000	0.51653	6.159000	0.54312	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.007	0.80164	535	0.73288	.;.;.	.	.	.	.	.	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	2354.98	39	chr6	142774723	.	T	C	2354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.993e+00;DP=1006;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.83;ReadPosRankSum=2.10;SOR=0.657	GT:AD:DP:GQ:PL	0/1:98,101:199:99:2369,0,2647	20	0	1	0
chr6	151458334	151458334	G	A	exonic	ARMT1	.	nonsynonymous SNV	ARMT1:NM_024573:exon3:c.G154A:p.V52M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.098	B	0.067	B	0.231	N	1.000	N	1.295	L	3.22	T	-0.964	T	0.007	T	0.028	0.696	7.717	-4.92	-1.205	0.008	10.226	0.052	0.00694201307924	.	.	3.314e-05	0	0	0.0001	0	4.515e-05	0	0	2.59e-05	4	154602	rs750680617	1.235e-05	1.231e-05	1.091e-05	1.38e-05	2.529e-05	7.72e-06	6.37e-06	6.54e-06	5.04e-06	0	0	0	2.529e-05	0	0	1.172e-05	6.64e-05	0	3.287e-05	3.284e-05	3.855e-05	2.691e-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	0.138	0.25873	T	0.124	0.35455	T	0.098	0.25584	B	0.067	0.27542	B	0.230967	0.03518	N	1.491260	1	0.08975	N	.	.	.	3.22	0.07024	T	-0.82	0.22508	N	0.125	0.11769	-0.9637	0.38468	T	0.007	0.02518	T	10	0.04089144	0.02696	T	0.006942	0.18374	T	0.052	0.14661	0.398	0.42590	0.0884992946249	0.08302	0.24260766050147553	0.24174	0.141164830378	0.15921	.	.	.	0.01009	0.09137	T	-0.50197	0.00557	T	-0.789693	0.02173	T	0.033689105842485	0.02586	T	0.763224	0.38939	T	0.07107781	0.15709	0.09003838	0.21091	0.07107781	0.15709	0.09003838	0.21090	-4.088	0.25113	T	.	.	0.079	0.07130	B	.	.	0.878497	0.12517	9.046	0.92572038110474175	0.22027	0.01250	0.04399	N	AEFDBI	0.011769	0.00111	N	-1.24346492462262	0.04386	0.1978486	-1.32131362840005	0.04155	0.195	0.998853268461125	0.37823	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.85	-4.92	0.02848	0.013000	0.13206	0.116000	0.14850	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.088000	0.17685	0.1903:0.4293:0.3804:0.0	10.226	0.42404	958	0.09170	Domain of unknown function DUF89	.	.	.	.	.	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	1566.98	42	chr6	151458334	.	G	A	1566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.82;DP=834;ExcessHet=0.0000;FS=0.911;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.83;ReadPosRankSum=-1.044e+00;SOR=0.587	GT:AD:DP:GQ:PL	0/1:45,54:99:99:1581,0,1105	20	0	1	0
chr6	151808323	151808323	C	A	exonic	ESR1	.	nonsynonymous SNV	ESR1:NM_000125:exon1:c.C411A:p.S137R	Estrogen resistance, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.984	D	0.001	D	1.000	D	1.59	L	1.43	T	-1.056	T	0.081	T	0.239	2.768	15.22	2.82	1.098	0.360	7.326	0.076	0.0310375631466	.	.	2.918e-05	0	0	0	0	4.927e-05	0	0	6.5e-06	1	154602	rs777114733	1.098e-05	2.257e-05	1.443e-05	7.435e-06	2.607e-05	6.6e-06	5.23e-06	6.03e-06	4.77e-06	0	0	0	0	0	0	1.132e-05	1.806e-05	2.607e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.72154	D	0.101	0.52389	T	0.012	0.90584	B	0.031	0.76113	B	0.000842	0.41440	D	0.304152	0.705129	0.30066	N	1.845	0.48678	L	1.43	0.32958	T	-1.31	0.46146	N	0.258	0.40864	-1.0565	0.12646	T	0.081	0.32060	T	10	0.24795118	0.42084	T	0.031038	0.53215	D	0.076	0.22200	0.543	0.65589	0.619037169258	0.61595	0.3868416333515506	0.38599	0.602018099317	0.55225	0.688429772854	0.65481	T	0.450392	0.79152	T	-0.146117	0.28922	T	-0.447663	0.27954	T	0.461545288562775	0.31221	T	0.911209	0.68535	D	0.19576557	0.41377	0.2624001	0.52031	0.19576557	0.41377	0.2624001	0.52030	-3.969	0.23338	T	0.3582470659802316	0.45491	0.390	0.71766	A	.;.;.;.;.;.	.;.;.;.;.;.	2.964711	0.39493	21.0	0.99420440527998988	0.63742	0.71900	0.35215	D	AEFDBCI	0.194430	0.32151	N	0.00925332749342081	0.42275	2.54412	0.0423279609945673	0.41703	2.509861	0.999923367397485	0.46280	0.437478	0.07067	0	0.563428	0.19063	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	4.97	2.82	0.32061	0.387000	0.20445	1.576000	0.27446	0.599000	0.40250	0.997000	0.40164	1.000000	0.68203	0.993000	0.69303	0.1385:0.6941:0.0:0.1674	7.326	0.25729	740	0.53092	.;.;.;.;Nuclear hormone receptor, ligand-binding 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	981.98	35	chr6	151808323	.	C	A	981.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.687;DP=866;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=0.419;SOR=0.896	GT:AD:DP:GQ:PL	0/1:31,42:73:99:996,0,612	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	0/1:143,43:192:19:19,0,3035	9	0	6	6
chr6	154039729	154039729	-	CGG	exonic	OPRM1	.	nonframeshift insertion	OPRM1:NM_000914:exon1:c.185_186insCGG:p.G63_S64insG	.	.	423	1079	20	0	0	20	0.00918274	.	.	2820830	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.00259585	0.0074	0.0012	0.0019	0	0.0070	0.0096	0.0079	0.0095	0.0043031	112	26028	rs576853670	0.0068	0.0068	0.0067	0.0069	0.0097	0.0067	0.0066	0.0091	0.0089	0.0010	0.0028	0.0037	2.519e-05	0.0063	0.0064	0.0073	0.0063	0.0097	0.0051	0.0051	0.0054	0.0049	0.0079	0.0048	0.0047	0.0073	0.0071	0.0016	0.0011	0.0042	0.0060	0	0.0043	0.0068	0.0079	0.0057	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2922.94	36	chr6	154039729	.	C	CCGG	2922.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.196e+00;DP=845;ExcessHet=0.0000;FS=8.827;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=24.56;ReadPosRankSum=0.072;SOR=0.739	GT:AD:DP:GQ:PL	0/1:44,75:119:99:2937,0,1623	20	0	1	0
chr6	157318851	157318867	GCCCCAGCCCAGAGCTC	-	exonic	TMEM242	.	frameshift deletion	TMEM242:NM_018452:exon3:c.242_258del:p.R81Lfs*12,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	.	0.0001	0	0	0	0	0.0002	0	0	3.84e-05	1	26028	rs781531293	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0	0	0	0	0	0.0002	0.0003	0.0003	0	8.538e-05	8.536e-05	7.706e-05	9.41e-05	0.0002	4.955e-05	3.961e-05	0.0001	7.892e-05	0	0	6.543e-05	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2788.94	34	chr6	157318850	.	AGCCCCAGCCCAGAGCTC	A	2788.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=859;ExcessHet=0.0000;FS=8.305;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.76;ReadPosRankSum=0.276;SOR=0.471	GT:AD:DP:GQ:PL	0/1:84,73:157:99:2803,0,3285	20	0	1	0
chr6	159246969	159246969	G	C	exonic	FNDC1	.	nonsynonymous SNV	FNDC1:NM_032532:exon15:c.G4690C:p.D1564H,	.	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999	D	0.979	D	0.003	N	1.000	D	1.935	M	3.72	T	-0.653	T	0.275	T	0.54	3.265	16.95	5.54	2.588	5.711	17.237	0.103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0018	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0	0.0002	5.061e-05	1.875e-05	0	0.0003	0.0002	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.009	0.66756	D	0.999	0.77913	D	0.979	0.74454	D	0.002848	0.35836	N	0.234303	0.999957	0.54805	D	2.43	0.70455	M	2.92	0.09915	T	-3.39	0.66896	D	0.55	0.57604	-0.6531	0.62579	T	0.275	0.64629	T	9	0.5588635	0.64674	D	0.033427	0.54974	D	0.155	0.40530	0.211	0.12923	0.716368476681	0.71387	0.5440392449143501	0.54329	0.742978454595	0.63363	0.448153674603	0.31691	T	0.069527	0.33731	T	-0.0790741	0.39866	T	-0.351361	0.39050	T	0.992298901081085	0.82739	D	0.823318	0.48387	T	0.50443697	0.67354	0.484389	0.70152	0.50443697	0.67355	0.484389	0.70153	-9.52	0.70983	D	.	.	0.559	0.67191	A	.	.	6.143375	0.94659	34	0.99444621568533897	0.64971	0.96803	0.71023	D	AEFBI	0.833431	0.75164	D	0.664050852397009	0.77282	6.644672	0.620074757088017	0.76401	6.483862	0.97955389799973	0.30040	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.590000	0.31140	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	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	0.1	429.76	74	chr6	159246969	.	G	C	429.76	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-2.628e+00;DP=1339;ExcessHet=0.6776;FS=353.850;InbreedingCoeff=-0.1265;MLEAC=4;MLEAF=0.100;MQ=60.00;MQRankSum=0.00;QD=1.12;ReadPosRankSum=1.07;SOR=8.955	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,25:115:99:.:.:274,0,2504	16	0	4	1
chr6	159246970	159246970	G	C	splicing	FNDC1	NM_032532:exon15:c.4690+1G>C	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.523	14.40	5.54	2.588	5.711	17.237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0099	0.0038	0.0033	0.0043	0.0035	0.0035	0.0042	0.0041	0.0035	0.0001	0.0012	0.0009	0.0008	0.0018	0.0043	0.0031	0.0013	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.244542	0.78088	D	0.113491	0.77803	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.933500	0.81364	27.5	0.99449484633040008	0.65223	0.96789	0.70947	D	AEFBI	.	.	.	1.01751420525002	0.96260	14.48223	0.835805092306312	0.92159	11.26917	0.97955389799973	0.30040	0.061011	0.01085	0	0.059962	0.00310	0	0.063197	0.01477	0	0.057018	0.00518	0	0.973979	0.76545	5.54	5.54	0.82907	5.922000	0.69759	11.627000	0.93669	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.523000	0.29544	0.0:0.0:1.0:0.0	17.237	0.86884	816	0.41767	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	384.68	36	chr6	159246970	.	G	C	384.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.641e+00;DP=989;ExcessHet=0.3300;FS=258.507;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=1.45;ReadPosRankSum=0.816;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:85,25:115:99:.:.:274,0,2504	18	0	3	0
chr6	160048478	160048478	C	G	exonic	IGF2R	.	nonsynonymous SNV	IGF2R:NM_000876:exon18:c.C2449G:p.L817V,	Hepatocellular carcinoma, somatic	.	427	993	99	3	0	105	0.0502152	.	.	699422	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.26	T	0.981	D	0.832	P	0.000	D	1.000	D	2.275	M	3.84	T	-1.029	T	0.017	T	0.585	3.005	16.02	4.31	2.472	1.403	10.337	0.125	.	0.0062	0.0071885	0.0094	0.0009	0.0062	0	0.0056	0.0092	0.0154	0.0237	0.0086739	1341	154602	rs8191808	0.0072	0.0072	0.0064	0.0080	0.0397	0.0071	0.0071	0.0355	0.0339	0.0009	0.0059	0.0307	5.038e-05	0.0058	0.0397	0.0056	0.0098	0.0237	0.0059	0.0059	0.0059	0.0059	0.0215	0.0056	0.0055	0.0182	0.0169	0.0010	0.0066	0.0050	0.0288	0.0006	0.0061	0.0442	0.0069	0.0085	0.0215	0.088	0.32296	T	0.012	0.63918	D	0.981	0.59675	D	0.832	0.59730	P	0.000462	0.44119	D	0.151190	0.999783	0.49076	D	.	.	.	3.84	0.03675	T	-1.35	0.33598	N	0.529	0.55799	-1.0289	0.20811	T	0.017	0.06998	T	10	0.005435288	0.00120	T	.	.	.	0.125	0.34456	.	.	0.391520894214	0.38767	0.6234013171663959	0.62273	0.452284579307	0.44955	0.323376655579	0.13932	T	0.135816	0.46784	T	-0.458906	0.00998	T	-0.413039	0.31874	T	0.0227990608119091	0.01000	T	0.867113	0.56785	D	0.13013394	0.30373	0.119077824	0.28742	0.1522377	0.34567	0.119077824	0.28741	-6.3	0.48722	T	.	.	0.127	0.27069	B	.;.	.;.	3.252730	0.44454	21.9	0.99696098389600929	0.80316	0.90954	0.52577	D	AEFBI	0.374056	0.45910	N	0.461876900785595	0.64879	4.752795	0.419132398140247	0.62757	4.496646	0.998863673749533	0.37845	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.3	4.31	0.50718	1.419000	0.34400	3.200000	0.36746	0.599000	0.40250	0.796000	0.29669	0.998000	0.33993	0.927000	0.46353	0.0:0.8324:0.0:0.1676	10.337	0.43037	784	0.47045	.;.	.	.	.	.	.	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	1578.98	33	chr6	160048478	.	C	G	1578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.542;DP=821;ExcessHet=0.0000;FS=5.206;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.61;ReadPosRankSum=0.048;SOR=0.748	GT:AD:DP:GQ:PL	0/1:74,62:136:99:1593,0,1867	20	0	1	0
chr6	165662348	165662348	-	CCG	exonic	PDE10A	.	nonframeshift insertion	PDE10A:NM_001385079:exon1:c.463_464insCGG:p.A154_G155insA,	Dyskinesia, limb and orofacial, infantile-onset, Autosomal recessive;Striatal degeneration, autosomal dominant, Autosomal dominant	.	66	158	0	2	0	4	0.0125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004226	11	26028	rs879175879	0.0034	0.0005	0.0024	0.0038	0.0502	0.0027	0.0024	0.0352	0.0302	0.0091	0.0048	0	0.0502	0	0	0.0017	0	0.0014	0.0030	0.0032	0.0029	0.0032	0.0411	0.0028	0.0027	0.0365	0.0347	0.0028	0	0.0018	0	0.0411	0.0002	0	0.0013	0.0010	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	52.07	8	chr6	165662348	.	C	CCCG	52.07	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.190e-01;DP=249;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0326;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=6.51;ReadPosRankSum=-1.800e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:6,2:8:66:66,0,246	20	0	1	0
chr6	167340300	167340300	G	A	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.G400A:p.E134K,	.	.	434	1073	15	0	0	15	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.994	D	0.838	P	0.062	N	1.000	N	1.12	L	4.34	T	-0.926	T	0.005	T	0.155	2.800	15.32	0.406	-0.049	1.391	5.231	0.103	0.00239125322083	0.0032	0.000998403	0.0032	0.0005	0.0009	0	0.0012	0.0054	0.0011	0.0004	0.0031824	492	154602	rs148797490	0.0038	0.0038	0.0039	0.0038	0.0076	0.0037	0.0037	0.0058	0.0052	0.0007	0.0015	0.0171	2.519e-05	0.0016	0.0076	0.0042	0.0042	0.0007	0.0024	0.0024	0.0026	0.0023	0.0035	0.0022	0.0021	0.0031	0.0030	0.0007	0	0.0019	0.0141	0	0.0012	0.0068	0.0035	0.0028	0.0002	0.149	0.24758	T	0.212	0.26549	T	0.994	0.66517	D	0.838	0.60045	P	0.061986	0.22130	N	0.365080	1	0.08975	N	1.64	0.41913	L	4.34	0.02341	T	-2.53	0.54864	D	0.105	0.08925	-0.9262	0.44688	T	0.005	0.01506	T	10	0.005413413	0.00119	T	0.002391	0.04673	T	0.103	0.29403	.	.	0.0551355673512	0.04727	0.3155434795212186	0.31467	0.154269521576	0.17418	0.246498063207	0.03408	T	0.008864	0.08111	T	-0.593262	0.00160	T	-0.624552	0.10831	T	0.0221157648079475	0.00922	T	0.629237	0.24427	T	0.14672776	0.33574	0.08908074	0.20810	0.14672776	0.33574	0.08908074	0.20810	-6.98	0.53888	T	.	.	0.098	0.41295	B	.;.	.;.	1.471882	0.18960	14.02	0.99585378178468176	0.73277	0.06160	0.12142	N	AEFBI	0.063584	0.12296	N	-0.475668282750746	0.22880	1.224798	-0.681319809820515	0.17428	0.9266627	0.375468095774333	0.19910	0.57788	0.32782	0	0.59043	0.45803	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.37	0.406	0.15584	1.142000	0.31152	0.614000	0.20061	0.526000	0.24426	0.188000	0.24163	0.003000	0.18671	0.003000	0.05239	0.2043:0.1699:0.6258:0.0	5.231	0.14742	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2887.98	35	chr6	167340300	.	G	A	2887.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=1822;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=1.24;SOR=0.706	GT:AD:DP:GQ:PL	0/1:114,110:224:99:2902,0,2915	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|2:35,0,7:42:99:0|1:167976273_A_C:142,248,1683,0,1436,1415:167976273	7	3	4	1
chr6	167976287	167976287	T	0	exonic	HGC6.3	.	.	.	.	.	7	149	13	0	57	70	0.0418006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	711.4	88	chr6	167976287	.	T	G,*	711.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=0.231;DP=1079;ExcessHet=0.2410;FS=14.973;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=55.12;MQRankSum=2.13;QD=1.96;ReadPosRankSum=-5.620e-01;SOR=1.152	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:34,7,0:41:99:0|1:167976273_A_C:145,0,1403,248,1423,1671:167976273	12	0	2	1
chr6	167976288	167976288	T	0	exonic	HGC6.3	.	.	.	.	.	556	780	60	5	121	191	0.0429448	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	677.4	88	chr6	167976288	.	T	G,*	677.4	.	AC=2,8;AF=0.050,0.200;AN=40;BaseQRankSum=1.98;DP=1079;ExcessHet=0.2410;FS=14.840;InbreedingCoeff=0.2323;MLEAC=2,8;MLEAF=0.050,0.200;MQ=54.99;MQRankSum=2.13;QD=1.88;ReadPosRankSum=-6.700e-01;SOR=1.164	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,5,0:38:99:0|1:167976273_A_C:111,0,1371,210,1386,1596:167976273	12	0	2	1
chr6	167976297	167976297	G	0	exonic	HGC6.3	.	.	.	.	.	4	213	8	0	1	9	0.0184332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	597.91	88	chr6	167976297	.	G	A,*	597.91	.	AC=2,2;AF=0.053,0.053;AN=38;BaseQRankSum=0.024;DP=1081;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0153;MLEAC=2,2;MLEAF=0.053,0.053;MQ=54.37;MQRankSum=-2.210e-01;QD=3.36;ReadPosRankSum=1.13;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,5,0:38:99:0|1:167976273_A_C:111,0,1371,210,1386,1596:167976273	15	0	2	2
chr6	167976300	167976300	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C353T:p.A118V,	.	.	459	1006	40	3	14	60	0.0223518	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.0041	0.0241	0.0088	0.0294	0.0098	0.0152	0.0028	0.0001153	3	26028	rs1453684562	0.0001	0.0008	9.497e-05	0.0001	0.0005	8.734e-05	8.111e-05	0.0003	0.0003	0	0.0004	0	0.0003	0.0009	0.0003	5.814e-05	0.0001	0.0005	0.0020	0.0089	0.0018	0.0022	0.0027	0.0017	0.0017	0.0018	0.0016	0.0022	0.0017	0.0018	0.0019	0.0021	0.0020	0	0.0018	0.0035	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,5,0:38:99:0|1:167976273_A_C:111,0,1371,210,1386,1596:167976273	16	0	2	1
chr6	167976300	167976300	G	0	exonic	HGC6.3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	597.19	88	chr6	167976300	.	G	A,*	597.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=-4.180e-01;DP=1080;ExcessHet=0.7148;FS=12.133;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=54.43;MQRankSum=-2.210e-01;QD=3.35;ReadPosRankSum=1.03;SOR=1.385	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,5,0:38:99:0|1:167976273_A_C:111,0,1371,210,1386,1596:167976273	16	0	2	1
chr6	167976307	167976307	G	A	exonic	HGC6.3	.	nonsynonymous SNV	HGC6.3:NM_001129895:exon1:c.C346T:p.P116S,	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0044	0.0018	0.0035	0.0022	0.0278	0.0059	0	0	0.0003622	56	154602	rs71573433	1.516e-05	0.0002	1.454e-05	1.583e-05	0.0003	8.79e-06	6.88e-06	7.2e-06	2.69e-06	0	0	0	0.0003	0.0003	0	5.095e-06	0	4.341e-05	0.0006	0.0041	0.0005	0.0008	0.0009	0.0005	0.0005	0.0006	0.0005	0.0004	0.0013	0.0009	0.0010	0.0009	0.0002	0	0.0008	0.0011	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,7,0:39:99:0|1:167976273_A_C:123,0,1323,219,1344,1563:167976273	16	0	2	1
chr6	167976307	167976307	G	0	exonic	HGC6.3	.	.	.	.	.	445	1037	25	1	14	41	0.012851	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	568.19	88	chr6	167976307	.	G	A,*	568.19	.	AC=2,2;AF=0.050,0.050;AN=40;BaseQRankSum=0.023;DP=1085;ExcessHet=0.7148;FS=7.899;InbreedingCoeff=0.0450;MLEAC=2,2;MLEAF=0.050,0.050;MQ=53.39;MQRankSum=-2.210e-01;QD=3.17;ReadPosRankSum=1.11;SOR=1.165	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:32,7,0:39:99:0|1:167976273_A_C:123,0,1323,219,1344,1563:167976273	16	0	2	1
chr6	167976539	167976539	T	0	exonic	HGC6.3	.	.	.	.	.	606	741	134	1	40	176	0.0840544	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	846.58	47	chr6	167976539	.	T	G,*	846.58	.	AC=4,2;AF=0.200,0.100;AN=20;BaseQRankSum=0.039;DP=1478;ExcessHet=0.0018;FS=1.846;InbreedingCoeff=0.2202;MLEAC=6,2;MLEAF=0.300,0.100;MQ=54.59;MQRankSum=-4.254e+00;QD=4.73;ReadPosRankSum=1.28;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,9,0:40:99:0|1:167976539_T_G:282,0,1266,385,1300,1734:167976539	6	1	2	11
chr6	167976540	167976540	T	0	exonic	HGC6.3	.	.	.	.	.	602	743	109	1	67	178	0.0695053	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	759.27	105	chr6	167976540	.	T	*,A	759.27	.	AC=3,3;AF=0.150,0.150;AN=20;BaseQRankSum=0.168;DP=1478;ExcessHet=0.0018;FS=0.997;InbreedingCoeff=0.2202;MLEAC=3,5;MLEAF=0.150,0.250;MQ=54.68;MQRankSum=-2.539e+00;QD=2.18;ReadPosRankSum=-5.800e-01;SOR=0.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:31,36,9:76:99:0|1:167976539_T_G:282,304,1664,0,1216,1266:167976539	6	1	0	11
chr6	169643735	169643735	A	C	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_001350623:exon12:c.T1136G:p.F379C	.	.	424	1077	20	1	0	22	0.0101103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.672	P	0.196	B	0.001	N	1.000	D	1.445	L	4.86	T	-1.103	T	0.048	T	0.767	0.254	5.375	4.0	0.789	3.432	11.176	0.223	.	0.0019	0.00199681	0.0033	0.0002	0.0007	0.0001	0.0003	0.0028	0.0058	0.0116	0.0029883	462	154602	rs201488884	0.0030	0.0030	0.0027	0.0033	0.0103	0.0029	0.0029	0.0097	0.0095	0.0003	0.0006	0.0049	2.519e-05	0.0004	0.0055	0.0028	0.0025	0.0103	0.0017	0.0017	0.0013	0.0021	0.0093	0.0015	0.0015	0.0072	0.0064	0.0002	0.0011	0.0005	0.0058	0	0.0004	0	0.0025	0.0024	0.0093	0.059	0.41915	T	0.026	0.55759	D	0.125	0.26866	B	0.054	0.25828	B	0.000722	0.42129	N	0.162064	0.962745	0.26053	N	.	.	.	0.88	0.46028	T	-5.47	0.85617	D	0.697	0.70175	-1.1034	0.03704	T	0.048	0.20632	T	10	0.0104136765	0.00232	T	.	.	.	0.223	0.52023	.	.	0.317084106153	0.31322	0.6679455183724466	0.66732	0.0347088691901	0.03653	0.491202026606	0.37605	T	.	.	.	-0.299942	0.08665	T	-0.195661	0.55057	T	0.024951494631161	0.01266	T	0.610439	0.23144	T	.	.	.	.	.	.	.	.	-10.066	0.74306	D	.	.	0.508	0.64961	A	.;.	.;.	2.575787	0.33383	19.32	0.63786348692542427	0.07317	0.80755	0.40312	D	AEFDGBI	0.219621	0.34448	N	-0.316615539543791	0.28517	1.573558	-0.296224608995896	0.28223	1.571886	0.337649845183437	0.19551	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.19	4.0	0.45673	3.009000	0.49239	6.112000	0.53677	0.688000	0.82842	0.998000	0.41325	0.999000	0.35428	0.057000	0.15750	0.8452:0.1548:0.0:0.0	11.176	0.47825	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1730.11	33	chr6	169643735	.	A	C	1730.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.03;DP=799;ExcessHet=0.1072;FS=1.290;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.386;SOR=0.550	GT:AD:DP:GQ:PL	0/1:52,31:83:99:741,0,1290	19	0	2	0
chr6	169668011	169668011	T	G	exonic	WDR27	.	nonsynonymous SNV	WDR27:NM_182552:exon5:c.A631C:p.I211L,	.	.	442	1058	22	0	0	22	0.01029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.011	B	0.01	B	0.413	N	1.000	D	-0.17	N	0.25	T	-1.062	T	0.028	T	0.215	2.468	14.21	-3.24	-0.570	0.513	2.582	0.073	.	0.0050	0.00279553	0.0064	0.0006	0.0013	0.0001	0.0014	0.0081	0.0058	0.0117	0.006009	929	154602	rs41265387	0.0069	0.0069	0.0068	0.0071	0.0104	0.0068	0.0068	0.0099	0.0096	0.0009	0.0016	0.0094	5.038e-05	0.0017	0.0062	0.0076	0.0054	0.0104	0.0044	0.0044	0.0045	0.0044	0.0093	0.0041	0.0040	0.0072	0.0066	0.0010	0.0011	0.0018	0.0107	0	0.0010	0	0.0074	0.0033	0.0093	0.022	0.48642	D	0.003	0.76473	D	.	.	.	.	.	.	0.412623	0.12976	N	0.685094	0.999763	0.48888	D	.	.	.	0.25	0.59449	T	-1.59	0.38345	N	0.433	0.47208	-1.0617	0.11336	T	0.028	0.12014	T	10	0.010516435	0.00234	T	.	.	.	0.073	0.21317	.	.	0.0920862733494	0.08535	0.3853289265288596	0.38447	0.0216781632593	0.02158	0.496599763632	0.38354	T	.	.	.	-0.480738	0.00732	T	-0.453928	0.27263	T	0.0081475625995667	0.00097	T	0.471453	0.13989	T	.	.	.	.	.	.	.	.	-8.103	0.61771	D	.	.	0.254	0.48867	B	.	.	1.134433	0.15214	11.68	0.86944439522738426	0.16880	0.31738	0.24413	N	AEFDBI	0.084421	0.17110	N	-1.23283867193284	0.04531	0.2046774	-1.21622574625296	0.05648	0.269726	0.999285255501367	0.39007	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.25	-3.24	0.04779	0.125000	0.15577	-2.347000	0.03869	0.663000	0.56723	0.228000	0.24622	0.000000	0.08366	0.091000	0.17840	0.1234:0.3584:0.1275:0.3907	2.582	0.04527	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	4512.11	38	chr6	169668011	.	T	G	4512.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.15;DP=1776;ExcessHet=0.1072;FS=2.106;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.31;ReadPosRankSum=0.716;SOR=0.804	GT:AD:DP:GQ:PL	0/1:102,86:188:99:2221,0,2629	19	0	2	0
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	0|1:33,25,0:58:99:1|0:170561925_A_ACAG:755,0,1002,855,1080,1936:170561925	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	0/1:39,48,0,0:87:99:.:.:1492,0,1141,1481,1457,3979,1481,1457,3979,3979	2	1	11	5
chr7	290725	290725	C	G	exonic	FOXL3	.	nonsynonymous SNV	FOXL3:NM_001374838:exon2:c.C180G:p.D60E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1401769274	1.508e-05	0.0005	1.932e-05	1.072e-05	3.51e-05	9.85e-06	8.01e-06	1.156e-05	9.32e-06	3.51e-05	0	0	0	0	0	1.808e-05	0	0	6.573e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.29690653	0.47254	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.909409	0.67928	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.48230	B	.	.	2.606792	0.33848	19.46	0.92665126009978027	0.22145	0.72915	0.35675	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.999996798729429	0.74766	0.11394	0.02926	0	0.063388	0.01293	0	0.125351	0.03401	0	0.109499	0.03221	0	0.842344	0.50902	4.4	4.4	0.52402	1.910000	0.39557	1.324000	0.25623	0.445000	0.21165	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	16.969	0.86166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1537.51	38	chr7	290725	.	C	G	1537.51	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.014;DP=729;ExcessHet=15.6281;FS=215.903;InbreedingCoeff=-0.5582;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=3.11;ReadPosRankSum=0.300;SOR=10.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:23,12:35:63:.:.:63,0,384	5	0	14	2
chr7	1440649	1440649	C	T	exonic	MICALL2	.	nonsynonymous SNV	MICALL2:NM_182924:exon8:c.G1747A:p.G583R,	.	.	416	992	110	4	0	118	0.056137	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.999	D	0.861	P	0.785	N	1.000	N	1.04	L	2.4	T	-0.868	T	0.228	T	0.362	0.720	7.833	2.22	0.298	0.162	4.792	0.085	.	0.0058	0.00958466	0.0111	0.0014	0.0042	0.0002	0.0012	0.0092	0.0235	0.0387	0.0103815	1605	154602	rs118132501	0.0097	0.0097	0.0085	0.0108	0.0387	0.0095	0.0095	0.0376	0.0372	0.0019	0.0045	0.0214	5.038e-05	0.0018	0.0317	0.0081	0.0106	0.0387	0.0069	0.0070	0.0062	0.0077	0.0391	0.0066	0.0065	0.0345	0.0327	0.0011	0.0647	0.0083	0.0231	0	0.0016	0.0034	0.0077	0.0085	0.0391	0.01	0.56456	D	0.289	0.21078	T	0.998	0.73220	D	0.629	0.51727	P	0.785298	0.09439	N	0.854456	1	0.08975	N	0.55	0.14455	N	-0.5	0.70480	T	-2.9	0.60827	D	0.274	0.31027	-0.8680	0.50679	T	0.228	0.59372	T	10	0.003394574	0.00059	T	.	.	.	0.085	0.24743	0.254	0.19378	.	.	0.17260096805414704	0.17180	0.0127105137452	0.01221	0.354136884212	0.18529	T	0.005327	0.04780	T	-0.389267	0.02720	T	-0.304068	0.44293	T	0.0421110538412396	0.04076	T	0.717028	0.32946	T	0.07449362	0.16722	0.08943037	0.20911	0.07449362	0.16722	0.08943037	0.20911	-4.714	0.33573	T	.	.	0.185	0.40048	B	.	.	1.897278	0.24095	16.27	0.71380055128778219	0.09609	0.04398	0.09982	N	AEFGBI	0.094525	0.19111	N	-0.45859534911735	0.23449	1.259348	-0.634506495118654	0.18609	0.9948502	0.314020614395515	0.19317	0.706548	0.73137	0	0.588066	0.40923	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.08	2.22	0.27116	0.800000	0.26703	1.295000	0.25437	0.597000	0.34315	0.000000	0.06391	0.007000	0.19602	0.040000	0.14268	0.0:0.6189:0.1779:0.2032	4.792	0.12621	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1954.68	34	chr7	1440649	.	C	T	1954.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.161;DP=865;ExcessHet=0.3300;FS=2.385;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=9.44;ReadPosRankSum=-9.000e-02;SOR=0.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:36,30:66:99:.:.:636,0,826	18	0	3	0
chr7	5064954	5064954	G	A	exonic	RBAK	.	nonsynonymous SNV	RBAK:NM_021163:exon5:c.G1498A:p.D500N	.	.	413	1091	17	1	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	B	0.001	B	0.233	N	0.995	N	0.565	N	2.49	T	-0.983	T	0.016	T	0.049	-0.543	1.536	-1.42	-0.279	0.061	4.422	0.018	0.00121223142827	0.0009	0.00139776	0.0015	0.0010	0.0008	0	0	0.0014	0.0011	0.0038	0.0012872	199	154602	rs149739845	0.0009	0.0009	0.0008	0.0011	0.0054	0.0009	0.0009	0.0040	0.0039	0.0005	0.0006	0.0017	0	1.872e-05	0.0054	0.0007	0.0012	0.0044	0.0008	0.0008	0.0007	0.0009	0.0044	0.0007	0.0006	0.0029	0.0025	0.0007	0	0.0009	0.0009	0	9.464e-05	0.0034	0.0008	0.0005	0.0044	0.502	0.07695	T	0.491	0.11515	T	0.001	0.07471	B	0.001	0.04355	B	0.233062	0.15876	N	0.565121	.	.	.	-0.45	0.02807	N	2.49	0.14531	T	-0.09	0.08340	N	0.088	0.06587	-0.9827	0.34375	T	0.016	0.06616	T	8	0.006048858	0.00136	T	0.001212	0.01583	T	0.018	0.03083	.	.	0.0482279557977	0.04254	0.11366945105048618	0.11294	0.0712543647857	0.07981	0.293589174747	0.09449	T	0.01575	0.13153	T	-0.740965	0.00020	T	-0.837641	0.01135	T	0.000333575056128164	0.00003	T	0.166283	0.01543	T	0.01795362	0.00318	0.020732109	0.00152	0.01795362	0.00318	0.020732109	0.00152	-4.298	0.28149	T	.	.	0.082	0.08754	B	.;.	.;.	0.761272	0.11309	7.932	0.7951076946333282	0.12775	0.00009	0.00143	N	AEFDGBHCI	0.041901	0.06431	N	-1.04311244204094	0.07723	0.3597564	-1.08192594315864	0.08057	0.3944742	0.0136590108915788	0.12493	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.636168	0.56350	0	.	.	3.77	-1.42	0.08446	-0.698000	0.05194	-0.421000	0.09284	-0.108000	0.15293	0.000000	0.06391	0.000000	0.08366	0.747000	0.35681	0.3632:0.3103:0.3266:0.0	4.422	0.10912	917	0.20147	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	1528.98	70	chr7	5064954	.	G	A	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=1313;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.53;ReadPosRankSum=0.264;SOR=0.665	GT:AD:DP:GQ:PL	0/1:58,55:113:99:1543,0,1586	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	0/1:18,10,0:28:99:.:.:202,0,407,252,436,688	0	6	14	0
chr7	5313185	5313187	CTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7704_7706del:p.S2577del,	.	.	330	1123	67	0	2	69	0.0289667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0142	0.0010	0.0032	0	0	0.0071	0.0064	0.0226	3.84e-05	1	26028	rs771326389	0.0008	0.0019	0.0004	0.0012	0.0011	0.0008	0.0007	0.0008	0.0008	9.554e-05	0.0004	0.0002	2.803e-05	0.0003	0.0011	0.0009	0.0007	0.0009	1.319e-05	0.0004	1.29e-05	1.351e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	6.566e-05	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	179.94	40	chr7	5313184	.	GCTA	G	179.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.400e+00;DP=895;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.75;MQRankSum=-7.301e+00;QD=3.27;ReadPosRankSum=2.14;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,8:55:99:0|1:5313184_GCTA_G:194,0,1920:5313184	20	0	1	0
chr7	5313187	5313187	A	0	exonic	TNRC18	.	.	.	.	.	336	1098	17	2	69	90	0.00947226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	896.95	40	chr7	5313187	.	A	G,*	896.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.388;DP=931;ExcessHet=0.6776;FS=0.604;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.20;MQRankSum=-5.399e+00;QD=3.14;ReadPosRankSum=2.54;SOR=0.619	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:47,0,8:55:99:0|1:5313184_GCTA_G:194,336,2280,0,1945,1920:5313184	17	0	3	0
chr7	5313191	5313199	CTGCCACTA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7692_7700del:p.G2566_S2568del,	.	.	329	1130	62	0	1	63	0.0267011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0124	0.0010	0.0031	0	0	0.0063	0.0065	0.0200	3.84e-05	1	26028	rs770288182	0.0007	0.0015	0.0004	0.0011	0.0008	0.0007	0.0007	0.0008	0.0008	9.519e-05	0.0003	0.0002	2.799e-05	0.0002	0.0002	0.0008	0.0007	0.0003	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	164.94	40	chr7	5313190	.	GCTGCCACTA	G	164.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.529e+00;DP=926;ExcessHet=0.0000;FS=1.499;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.86;MQRankSum=-7.639e+00;QD=2.75;ReadPosRankSum=2.70;SOR=0.387	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,8:60:99:0|1:5313184_GCTA_G:179,0,2110:5313184	20	0	1	0
chr7	5313194	5313196	CCA	-	exonic	TNRC18	.	nonframeshift deletion	TNRC18:NM_001080495:exon27:c.7695_7697del:p.G2566del,	.	.	337	1109	10	1	65	77	0.00538117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0027	0.0015	0.0030	0	0	0.0002	0	0.0053	3.84e-05	1	26028	rs764373181	0.0003	0.0007	0.0001	0.0004	0.0041	0.0003	0.0003	0.0037	0.0036	0	0.0003	0	0	2.147e-05	0.0015	4.467e-05	0.0003	0.0041	0.0001	0.0006	0.0001	0.0002	0.0023	9.767e-05	8.277e-05	0.0013	0.0010	0	0	0.0001	0	0	0	0	0.0001	0	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	666.24	40	chr7	5313193	.	GCCA	G,*	666.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.530e-01;DP=931;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.22;MQRankSum=-5.476e+00;QD=3.03;ReadPosRankSum=3.05;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:52,0,8:60:99:0|1:5313184_GCTA_G:179,336,2470,0,2134,2110:5313184	18	0	2	0
chr7	5313193	5313196	GCCA	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	666.24	40	chr7	5313193	.	GCCA	G,*	666.24	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=-2.530e-01;DP=931;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=59.22;MQRankSum=-5.476e+00;QD=3.03;ReadPosRankSum=3.05;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:52,0,8:60:99:0|1:5313184_GCTA_G:179,336,2470,0,2134,2110:5313184	18	0	2	0
chr7	5313195	5313195	C	T	exonic	TNRC18	.	nonsynonymous SNV	TNRC18:NM_001080495:exon27:c.G7696A:p.G2566S,	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	0.970	N	-1.04	N	3.61	T	-0.972	T	0.021	T	0.281	-2.230	0.005	-1.05	-0.388	0.181	7.080	0.019	0.566132589096	.	.	0.0003	0	0	0	0	0	0	0.0007	.	.	.	rs1219465497	4.69e-05	0.0001	4.547e-05	4.837e-05	0.0004	3.77e-05	3.435e-05	0.0003	0.0003	3.174e-05	0	0	0.0002	0	0.0002	2.049e-05	3.475e-05	0.0004	2.64e-05	9.222e-05	2.578e-05	2.705e-05	0.0002	8.17e-06	5.16e-06	.	.	0	0	6.578e-05	0	0.0002	0	0	1.477e-05	0	0.0002	1.0	0.00964	T	0.725	0.05256	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-0.805	0.01590	N	3.61	0.04446	T	0.32	0.03955	N	0.08	0.09490	-0.9716	0.36862	T	0.021	0.08732	T	9	0.037908286	0.02174	T	0.566133	0.96059	D	0.019	0.03383	0.341	0.33302	0.043077524339	0.03247	0.08017200187297086	0.07952	0.532972911341	0.50740	0.694028973579	0.66284	T	0.003271	0.02677	T	-0.305229	0.08175	T	-0.676217	0.07216	T	0.00504245816284424	0.00054	T	0.40486	0.10377	T	0.0329393	0.03415	0.060975783	0.11699	0.0329393	0.03415	0.060975783	0.11699	0.738	0.00169	T	.	.	0.049	0.00120	B	.;.	.;.	-0.749459	0.01211	0.060	0.69442881910546073	0.08974	0.01164	0.04193	N	AEFDGBHCI	0.027282	0.02201	N	-1.27617096913996	0.03964	0.178059	-1.33243786506907	0.04017	0.1886088	0.00213243111244773	0.09181	0.580535	0.33130	0	0.550933	0.16991	0	0.576033	0.28219	0	0.491896	0.07777	0	.	.	4.38	-1.05	0.09523	-0.047000	0.11917	-0.402000	0.09404	-0.317000	0.05909	0.000000	0.06391	0.000000	0.08366	0.164000	0.20782	0.0:0.4146:0.1264:0.459	7.080	0.24402	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	1	0	0	0	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:52,0,8:60:99:0|1:5313184_GCTA_G:179,336,2470,0,2134,2110:5313184	17	0	1	0
chr7	5313195	5313195	C	0	exonic	TNRC18	.	.	.	.	.	338	1102	6	0	76	82	0.00271493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313195	.	C	T,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.807;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.05;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:52,0,8:60:99:0|1:5313184_GCTA_G:179,336,2470,0,2134,2110:5313184	17	0	1	0
chr7	5313196	5313196	A	0	exonic	TNRC18	.	.	.	.	.	342	1098	6	0	76	82	0.0027248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	219.24	40	chr7	5313196	.	A	G,*	219.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.86;DP=935;ExcessHet=0.6776;FS=0.598;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.04;MQRankSum=-4.350e+00;QD=0.75;ReadPosRankSum=3.12;SOR=0.638	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:52,0,8:60:99:0|1:5313184_GCTA_G:179,336,2470,0,2134,2110:5313184	17	0	1	0
chr7	5313199	5313199	A	0	exonic	TNRC18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	926.95	40	chr7	5313199	.	A	G,*	926.95	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.392;DP=926;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=59.13;MQRankSum=-5.182e+00;QD=3.30;ReadPosRankSum=2.96;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:52,0,8:60:99:0|1:5313184_GCTA_G:179,336,2470,0,2134,2110:5313184	17	0	3	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	1/1:0,22,0,0,0,0,0:22:67:992,67,0,992,67,992,992,67,992,992,992,67,992,992,992,992,67,992,992,992,992,992,67,992,992,992,992,992	1	3	5	0
chr7	11831855	11831855	-	GCAGCG	exonic	THSD7A	.	nonframeshift insertion	THSD7A:NM_015204:exon1:c.91_92insCGCTGC:p.L34_L35insPL,	.	.	413	987	26	4	92	126	0.0169323	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5652.12	34	chr7	11831843	.	AGCAGCGGCAGCG	A,AGCAGCGGCAGCGGCAGCG	5652.12	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=0.293;DP=1040;ExcessHet=0.6776;FS=3.536;InbreedingCoeff=-0.1053;MLEAC=3,1;MLEAF=0.071,0.024;MQ=60.00;MQRankSum=0.00;QD=16.92;ReadPosRankSum=0.114;SOR=0.537	GT:AD:DP:GQ:PL	0/2:39,0,28:67:99:1022,1142,2775,0,1634,1549	17	0	3	0
chr7	27095695	27095695	C	0	exonic	HOXA1	.	.	.	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	13	23	341	1132	13	2618	0.982648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9286	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|2:0,52,53:105:99:1|0:27095694_GCGA_G:4783,2270,2044,1974,0,2023:27095694	0	18	1	0
chr7	44073678	44073678	G	A	exonic	POLM	.	nonsynonymous SNV	POLM:NM_001284330:exon8:c.C1105T:p.R369W	.	.	414	1105	3	0	0	3	0.00135563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.515	P	0.066	B	0.182	N	1.000	N	1.21	L	0.88	T	-1.069	T	0.057	T	0.269	2.514	14.36	-0.926	-0.121	0.155	4.392	0.045	0.00930462899442	.	.	8.298e-05	0	0.0002	0.0007	0	3.021e-05	0	0	6.47e-05	10	154602	rs776279019	7.456e-05	7.456e-05	7.351e-05	7.563e-05	0.0008	6.315e-05	5.873e-05	0.0006	0.0005	2.987e-05	0.0001	0	0.0008	0	0.0003	4.586e-05	9.936e-05	0.0002	3.282e-05	3.281e-05	2.57e-05	4.027e-05	0.0006	1.26e-05	7.97e-06	0.0002	9e-05	0	0	0	0	0.0004	0	0	0	0	0.0006	0.12	0.39097	T	0.182	0.57587	T	0.05	0.22331	B	0.008	0.13708	B	0.181915	0.17080	N	0.565412	0.999823	0.20203	N	1.685	0.43254	L	0.88	0.46028	T	-3.34	0.67477	D	0.275	0.31140	-1.0686	0.09723	T	0.057	0.24018	T	10	0.06276685	0.08077	T	0.009305	0.24413	T	0.045	0.12272	0.466	0.53729	0.616247408722	0.61314	0.44482081446690136	0.44400	0.134925717983	0.15200	0.309586584568	0.11845	T	0.48717	0.81334	T	-0.431938	0.01443	T	-0.495192	0.22848	T	0.0759551819800426	0.09462	T	0.877412	0.59601	D	0.30978394	0.53767	0.20341583	0.44417	0.30978394	0.53767	0.20341583	0.44416	-7.379	0.56757	T	.	.	0.098	0.62341	B	.;.;.	.;.;.	3.222161	0.43907	21.8	0.98541546545450098	0.42719	0.08384	0.14320	N	AEFDBCIJ	0.248864	0.36919	N	-0.577776744499881	0.19620	1.028328	-0.551904871165229	0.20755	1.119698	0.999999872472335	0.74766	0.631515	0.41029	0	0.697927	0.68747	0	0.723109	0.80598	0	0.372554	0.06265	0	.	.	5.63	-0.926	0.09923	0.177000	0.16615	-0.078000	0.12213	0.654000	0.53741	0.002000	0.15269	0.001000	0.17328	0.996000	0.76049	0.2298:0.0:0.3664:0.4038	4.392	0.10775	680	0.59965	.;DNA polymerase beta, thumb domain|DNA-directed DNA polymerase X|DNA-directed DNA polymerase X;.	.	.	.	.	.	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	974.98	37	chr7	44073678	.	G	A	974.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.93;DP=820;ExcessHet=0.0000;FS=5.186;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.85;ReadPosRankSum=0.018;SOR=0.859	GT:AD:DP:GQ:PL	0/1:62,37:99:99:989,0,1587	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	0/1:84,63,0:147:99:.:.:1482,0,2254,1734,2442,4176	8	5	7	0
chr7	45084206	45084206	C	0	exonic	NACAD	.	.	.	.	.	527	929	28	5	33	71	0.0200422	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1471	2190.13	33	chr7	45084206	.	C	T,*	2190.13	.	AC=4,1;AF=0.118,0.029;AN=34;BaseQRankSum=1.42;DP=744;ExcessHet=0.0409;FS=1.942;InbreedingCoeff=0.1581;MLEAC=5,1;MLEAF=0.147,0.029;MQ=50.91;MQRankSum=1.53;QD=12.52;ReadPosRankSum=-2.863e+00;SOR=0.887	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,23,0:25:40:1|1:45084206_C_T:888,40,0,892,58,906:45084206	13	1	2	4
chr7	45084219	45084338	GAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	-	exonic	NACAD	.	nonframeshift deletion	NACAD:NM_001146334:exon2:c.1842_1961del:p.I625_T664del,	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0061	0	0	0	0.0005	0	0.0004	.	.	.	.	0.0013	0.0015	0.0012	0.0013	0.0048	0.0012	0.0012	0.0038	0.0035	0.0048	0.0017	0.0029	0.0030	0.0040	0.0016	0.0010	0.0018	0.0006	0.0033	0.0017	0.0029	0.0037	0.0160	0.0029	0.0027	0.0132	0.0121	0.0160	0	0.0057	0.0007	0.0025	0.0028	0	0.0011	0.0015	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,27,0:54:99:0|1:45084206_C_T:883,0,967,959,629,1511:45084206	17	0	3	0
chr7	45084218	45084338	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	0	exonic	NACAD	.	.	.	.	.	515	945	29	0	33	62	0.015112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2010.91	33	chr7	45084218	.	CGAGAGTTCTGTGTCTTGTAGGGGCAGAGGCGGTGTCATAACGGAGTCCTGGGGTAAGGTGAGGCCCTCTTCAGCCTGCTGGGACACAATCGTGGCTGCAGCCACAGGCTTTGGGGCTGAT	C,*	2010.91	.	AC=3,1;AF=0.071,0.024;AN=42;BaseQRankSum=2.49;DP=975;ExcessHet=0.6776;FS=5.653;InbreedingCoeff=-0.0747;MLEAC=3,1;MLEAF=0.071,0.024;MQ=54.44;MQRankSum=-1.620e-01;QD=5.52;ReadPosRankSum=-2.189e+00;SOR=1.007	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,27,0:54:99:0|1:45084206_C_T:883,0,967,959,629,1511:45084206	17	0	3	0
chr7	45084224	45084224	T	0	exonic	NACAD	.	.	.	.	.	705	684	53	24	56	157	0.0687543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	773.64	33	chr7	45084224	.	T	A,*	773.64	.	AC=3,4;AF=0.136,0.182;AN=22;BaseQRankSum=1.67;DP=1143;ExcessHet=0.4362;FS=6.611;InbreedingCoeff=0.0073;MLEAC=5,6;MLEAF=0.227,0.273;MQ=47.16;MQRankSum=-4.237e+00;QD=1.81;ReadPosRankSum=-1.513e+00;SOR=1.137	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:27,0,27:54:99:0|1:45084206_C_T:883,959,1511,0,629,967:45084206	5	1	1	10
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	0/1:62,43,0:105:99:.:.:260,0,1005,429,1120,1549	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	0/1:72,33:105:99:.:.:207,0,2064	10	0	9	2
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	0/1:53,45:98:99:1030,0,1391	18	0	3	0
chr7	80671036	80671036	T	G	exonic	CD36	.	nonsynonymous SNV	CD36:NM_001289908:exon6:c.T761G:p.F254C	Platelet glycoprotein IV deficiency, Autosomal recessive	.	3	1516	2	1	0	4	0.00131752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	D	0.989	D	0.000	D	1.000	D	3.31	M	-1.29	T	0.603	D	0.716	D	0.921	3.372	17.37	4.63	2.238	1.726	11.679	0.836	0.143918147072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-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	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.989	0.78396	D	0.000166	0.48594	D	0.216196	0.999549	0.81001	D	3.595	0.93690	H	-1.29	0.79475	T	-6.96	0.93544	D	0.779	0.77789	0.603	0.91938	D	0.716	0.90265	D	9	0.9660251	0.96087	D	0.143918	0.82621	D	0.836	0.94840	0.825	0.93657	0.79179384081	0.78986	0.974178952334401	0.97407	3.61486425784E-4	0.00038	0.653207302094	0.60441	T	0.652468	0.89471	D	0.394215	0.89576	D	0.328486	0.89444	D	0.993394672870636	0.84176	D	0.873813	0.59457	D	0.972831	0.98518	0.9415407	0.97868	0.972831	0.98518	0.9415407	0.97869	-10.631	0.77596	D	0.8247999244014119	0.89699	0.974	0.92043	P	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.689115	0.75117	26.3	0.99444158749296252	0.64921	0.91054	0.52770	D	AEFCI	0.713482	0.66627	D	0.676781726522379	0.78110	6.806208	0.611053114266909	0.75742	6.364507	0.508294724740897	0.20999	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.85	4.63	0.57175	2.325000	0.43499	4.133000	0.42042	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.1326:0.0:0.0:0.8674	11.679	0.50706	971	0.05719	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1126.98	35	chr7	80671036	.	T	G	1126.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.956;DP=795;ExcessHet=0.0000;FS=2.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-1.261e+00;SOR=0.819	GT:AD:DP:GQ:PL	0/1:56,46:102:99:1141,0,1389	20	0	1	0
chr7	89336269	89336269	T	C	exonic	ZNF804B	.	nonsynonymous SNV	ZNF804B:NM_181646:exon4:c.T3287C:p.I1096T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.218	B	0.05	B	0.010	N	0.854	N	0.975	L	3.45	T	-1.046	T	0.013	T	0.476	2.065	12.86	3.43	2.086	-0.011	8.981	0.055	0.00480320310704	.	.	0.0002	0	0	0	0	0	0.0011	0.0013	0.0001488	23	154602	rs763815136	9.373e-05	9.371e-05	5.038e-05	0.0001	0.0015	8.094e-05	7.586e-05	0.0013	0.0012	0	0	0	0	0	0	4.497e-06	9.935e-05	0.0015	2.628e-05	2.625e-05	1.286e-05	4.032e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.007	0.59928	D	0.038	0.51421	D	0.218	0.30213	B	0.05	0.25278	B	0.009622	0.30272	N	0.288561	0.854471	0.28448	N	2.48	0.72069	M	3.45	0.05311	T	-1.65	0.39503	N	0.152	0.15609	-1.0462	0.15476	T	0.013	0.05273	T	10	0.022179574	0.00547	T	0.004803	0.12004	T	0.055	0.15663	0.388	0.40951	0.104622674875	0.10061	0.0797743357107739	0.07912	0.0443273048903	0.04778	0.501161336899	0.38990	T	0.005171	0.04614	T	-0.471646	0.00830	T	-0.469277	0.25595	T	0.114851152866168	0.13919	T	0.542746	0.18485	T	0.13381405	0.31111	0.13255173	0.31805	0.13381405	0.31111	0.13255173	0.31804	-3.199	0.12468	T	.	.	0.129	0.31558	B	.;.	.;.	1.587432	0.20305	14.69	0.9937848266343019	0.61759	0.78758	0.38906	D	AEI	0.114913	0.22616	N	-0.19074734391315	0.33518	1.902534	-0.0534665421578368	0.37341	2.185032	9.55818757945004E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.68	3.43	0.38372	-0.047000	0.11917	0.232000	0.16202	0.665000	0.62972	0.915000	0.31815	0.983000	0.30585	0.995000	0.73285	0.166:0.0:0.0:0.834	8.981	0.35125	911	0.21964	.;.	.	.	.	.	.	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	2281.98	49	chr7	89336269	.	T	C	2281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=1276;ExcessHet=0.0000;FS=6.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.82;ReadPosRankSum=2.07;SOR=0.438	GT:AD:DP:GQ:PL	0/1:97,81:178:99:2296,0,2563	20	0	1	0
chr7	90164511	90164511	C	A	exonic	STEAP1	.	nonsynonymous SNV	STEAP1:NM_012449:exon5:c.C797A:p.T266K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.986	D	0.573	P	0.000	D	1.000	D	2.9	M	2.74	T	-0.994	T	0.089	T	0.92	4.862	27.8	6.03	2.861	6.829	20.557	0.414	0.0886972665252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.377e-06	1.162e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.986	0.61523	D	0.573	0.49966	P	0.000009	0.62929	D	0.000000	0.999995	0.58761	D	3.325	0.90780	M	2.74	0.11730	T	-4.93	0.81755	D	0.943	0.95021	-0.9943	0.31485	T	0.089	0.34216	T	10	0.9616259	0.95579	D	0.088697	0.75184	D	0.414	0.72479	0.774	0.90002	0.58311486246	0.57984	0.9085828054918775	0.90831	0.133570330031	0.15039	0.574702978134	0.49341	T	0.528039	0.83616	D	0.237547	0.77429	D	0.103443	0.77134	D	0.997099995613098	0.90756	D	0.80142	0.44736	T	0.85153633	0.87450	0.8509034	0.91564	0.85153633	0.87452	0.8509034	0.91565	-13.501	0.91321	D	.	.	0.936	0.85539	P	.	.	4.894492	0.80387	27.3	0.99455766230666454	0.65530	0.98984	0.89542	D	AEFBI	0.822298	0.74266	D	0.820172085697089	0.87349	9.187822	0.82633795554952	0.91562	10.94998	0.99999821205909	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	6.973000	0.75901	7.717000	0.67122	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:1.0:0.0:0.0	20.557	0.99307	746	0.52331	.	.	.	.	.	.	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	877.98	38	chr7	90164511	.	C	A	877.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=789;ExcessHet=0.0000;FS=2.333;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.11;ReadPosRankSum=-1.059e+00;SOR=0.410	GT:AD:DP:GQ:PL	0/1:47,32:79:99:892,0,1374	20	0	1	0
chr7	92578163	92578163	T	C	exonic	FAM133B	.	nonsynonymous SNV	FAM133B:NM_001288584:exon5:c.A266G:p.K89R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.996	D	0.987	D	.	.	0.999	D	2.08	M	0.91	T	-0.580	T	0.253	T	0.474	3.603	18.34	5.63	2.269	6.683	16.133	0.188	0.0213756774825	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1204184996	2.743e-06	3.42e-06	2.729e-06	2.758e-06	3.524e-05	6.4e-07	4.3e-07	9.36e-06	4.6e-06	0	0	0	0	0	0	0	1.661e-05	3.524e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.29288	T	0.069	0.43913	T	0.996	0.68779	D	0.987	0.77487	D	.	.	.	.	0.999148	0.46174	D	1.78	0.46185	L	0.91	0.44856	T	-1.38	0.34198	N	0.536	0.56919	-0.5797	0.65629	T	0.253	0.62303	T	9	0.409906	0.56152	T	0.021376	0.44139	T	0.188	0.46444	0.211	0.12923	0.53730890811	0.53382	0.061903733142911144	0.06130	0.193333280762	0.21667	0.705307424068	0.67912	T	0.037571	0.24522	T	-0.142358	0.29516	T	-0.33932	0.40421	T	0.487322121858597	0.32166	T	0.857714	0.54741	D	0.17764471	0.38742	0.23379876	0.48579	0.17764471	0.38742	0.23379876	0.48578	-5.773	0.44338	T	.	.	0.122	0.25429	B	.;.;.	.;.;.	3.544993	0.49806	22.8	0.99457130971191055	0.65581	0.99539	0.97221	D	AEFBI	0.797867	0.72458	D	0.755545070354388	0.83265	7.972516	0.743915931152111	0.85703	8.65998	0.999999999921463	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.463624	0.06942	0	0.635551	0.53088	0	.	.	5.63	5.63	0.86108	6.247000	0.72367	5.107000	0.47483	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	16.133	0.81265	797	0.45241	.;.;.	.	.	.	.	.	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	1306.33	36	chr7	92578163	.	T	C	1306.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-5.200e-02;DP=757;ExcessHet=0.0000;FS=2.801;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=13.47;ReadPosRankSum=0.917;SOR=0.427	GT:AD:DP:GQ:PL	0/1:48,49:97:99:1320,0,1243	19	0	1	1
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	0/1:128,21:151:27:.:.:27,0,4642	2	0	19	0
chr7	93105410	93105410	G	A	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.C688T:p.R230C	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	1421030	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	1.0	D	0.988	D	0.000	D	1.000	D	1.905	M	2.39	T	-1.016	T	0.109	T	0.825	4.036	20.7	4.56	2.526	5.912	16.388	0.328	0.00818323618574	.	0.000199681	3.295e-05	0	0	0	0	0	0	0.0002	3.23e-05	5	154602	rs530971102	2.394e-05	2.463e-05	2.314e-05	2.475e-05	0.0003	1.739e-05	1.539e-05	0.0001	0.0001	5.974e-05	0	0	2.52e-05	0	0.0003	8.094e-06	6.623e-05	0.0002	2.629e-05	2.625e-05	3.857e-05	1.345e-05	0.0004	8.14e-06	5.14e-06	7.296e-05	3.031e-05	0	0	6.546e-05	0	0	0	0	1.471e-05	0	0.0004	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.988	0.77976	D	0.000005	0.62929	D	0.000000	0.999534	0.47451	D	2.61	0.76335	M	2.39	0.15724	T	-4.87	0.81269	D	0.569	0.63120	-1.0163	0.24916	T	0.109	0.39486	T	10	0.53499955	0.63397	D	0.008183	0.21674	T	0.328	0.65026	0.573	0.69695	0.639676494308	0.63670	0.7302685519726966	0.72971	0.76600582791	0.64516	0.662169158459	0.61719	T	0.21744	0.69556	T	-0.0826568	0.39281	T	-0.0822076	0.64741	T	0.924092531204224	0.58509	D	0.819918	0.47811	T	0.5267959	0.68648	0.3917085	0.63934	0.5267959	0.68649	0.3917085	0.63934	-7.454	0.57286	T	.	.	0.402	0.68433	A	.;.;.	.;.;.	5.180421	0.86860	29.0	0.9992865733481322	0.99222	0.97448	0.74815	D	AEFBI	0.763094	0.70030	D	0.71055424706074	0.80326	7.26928	0.673437557536361	0.80365	7.283102	0.999619952047922	0.40981	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.635551	0.53088	0	.	.	4.56	4.56	0.55644	4.952000	0.63320	7.346000	0.58272	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.388	0.83358	799	0.44747	.;.;.	.	.	.	.	.	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	3144.98	41	chr7	93105410	.	G	A	3144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.10;DP=1534;ExcessHet=0.0000;FS=4.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.24;ReadPosRankSum=-8.900e-01;SOR=0.951	GT:AD:DP:GQ:PL	0/1:140,117:257:99:3159,0,3473	20	0	1	0
chr7	99621529	99621529	C	T	exonic	ZSCAN25	.	nonsynonymous SNV	ZSCAN25:NM_001350979:exon3:c.C544T:p.L182F	.	.	425	1092	5	0	0	5	0.00228415	.	.	3355132	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.71	T	0.999	D	0.998	D	0.001	D	0.943	N	1.2	L	2.99	T	-1.055	T	0.051	T	0.381	1.021	9.171	5.08	2.736	4.266	14.710	0.197	0.0106630995889	.	.	3.862e-05	0	0	0	0	0	0.0013	0.0002	2.59e-05	4	154602	rs761250562	2.923e-05	3.078e-05	2.688e-05	3.162e-05	0.0008	2.175e-05	1.957e-05	0.0003	0.0002	6.261e-05	0	8.169e-05	0	0	0.0008	1.302e-05	0.0001	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	0.0002	5.24e-06	2.45e-06	.	.	2.412e-05	0	6.543e-05	0	0	0	0	0	0	0.0002	0.091	0.31834	T	0.286	0.21277	T	0.999	0.77913	D	0.991	0.79672	D	0.000702	0.42254	D	0.000000	0.943	0.37374	D	1.645	0.42016	L	2.93	0.09822	T	-1.57	0.37955	N	0.311	0.49237	-1.0547	0.13119	T	0.051	0.21572	T	10	0.15086162	0.28526	T	0.010663	0.27451	T	0.197	0.47942	0.119	0.02647	0.395289904662	0.39143	0.12089058216304557	0.12016	0.967870680128	0.73253	0.528489470482	0.42821	T	0.042102	0.26075	T	-0.340044	0.05384	T	-0.456927	0.26933	T	0.124131653464355	0.14829	T	0.764923	0.41150	T	0.09168373	0.21491	0.0788525	0.17700	0.09168373	0.21490	0.0788525	0.17700	-5.973	0.46053	T	.	.	0.088	0.24123	B	.;.;.	.;.;.	2.884327	0.38179	20.7	0.96377310021897422	0.29607	0.94489	0.61330	D	AEFBI	0.432845	0.49455	N	0.34040104805006	0.58234	3.994574	0.31812813194657	0.56604	3.824046	0.999999931165258	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.08	5.08	0.68373	1.709000	0.37528	3.610000	0.39250	0.599000	0.40250	0.808000	0.29825	1.000000	0.68203	0.063000	0.16184	0.0:1.0:0.0:0.0	14.710	0.68837	109	0.95526	.;.;.	.	.	.	.	.	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	1289.98	35	chr7	99621529	.	C	T	1289.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.451;DP=816;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.30;ReadPosRankSum=-4.440e-01;SOR=0.610	GT:AD:DP:GQ:PL	0/1:50,47:97:99:1304,0,1361	20	0	1	0
chr7	100072098	100072098	G	T	exonic	ZNF3	.	nonsynonymous SNV	ZNF3:NM_001318136:exon3:c.C407A:p.A136D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.622	P	0.282	B	0.000	D	1.000	D	1.7	L	5.13	T	-1.010	T	0.025	T	0.463	2.154	13.16	3.79	1.326	0.130	12.832	0.102	0.00711151489113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	0	0.0032	0	0	0	0.082	0.63226	T	0.14	0.33554	T	0.392	0.34646	B	0.193	0.36509	B	0.000081	0.51296	D	0.000000	0.738814	0.81001	D	1.665	0.42610	L	3.26	0.06681	T	-2.1	0.51319	N	0.375	0.41656	-1.0096	0.27043	T	0.025	0.10733	T	10	0.12552413	0.23855	T	0.007112	0.18841	T	0.102	0.29158	0.343	0.33626	0.298403945805	0.29456	0.2887298983177112	0.28785	0.643802632613	0.57903	0.329270809889	0.14824	T	0.057815	0.37685	T	-0.128799	0.31691	T	-0.422788	0.30756	T	0.834183394908905	0.48859	D	0.0338966	0.32694	T	0.36383352	0.58126	0.36909786	0.62186	0.36383352	0.58127	0.36909786	0.62186	-5.109	0.38002	T	.	.	0.107	0.27583	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.647802	0.34467	19.64	0.99160677703266464	0.54099	0.00528	0.02449	N	AEFBCI	0.113812	0.22442	N	-0.245913607738413	0.31267	1.751506	-0.228231548129235	0.30530	1.719715	0.992291598244726	0.32788	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.68	3.79	0.42757	1.305000	0.33098	1.295000	0.25437	0.618000	0.50648	0.698000	0.28607	0.657000	0.25995	0.992000	0.67800	0.0:0.1657:0.8343:0.0	12.832	0.57138	137	0.94565	.;.;.;.;.;.;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	1680.98	34	chr7	100072098	.	G	T	1680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.75;DP=821;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.45;ReadPosRankSum=-4.200e-02;SOR=0.665	GT:AD:DP:GQ:PL	0/1:63,62:125:99:1695,0,1532	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|1:51,35:86:99:0|1:100175805_G_C:697,0,1762:100175805	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|2:0,0,89:89:99:1|1:100773849_CCAT_C:3985,3985,3985,268,268,0:100773849	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|1:0,89,0:89:99:1|1:100773849_CCAT_C:3985,268,0,3985,268,3985:100773849	0	11	5	0
chr7	100788077	100788077	G	A	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon38:c.G7168A:p.E2390K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	1.0	D	0.999	D	0.000	D	0.993	N	.	.	0.17	T	-0.654	T	0.345	T	0.704	3.844	19.53	4.77	2.594	4.500	14.006	0.329	0.00873774916547	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.794e-06	2.736e-06	1.386e-06	4.223e-06	0.0004	6.5e-07	4.4e-07	6.253e-05	2.581e-05	0	0	0	0	0	0.0004	0	3.383e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000087	0.51296	D	0.000000	0.993447	0.23711	N	.	.	.	.	.	.	.	.	.	0.69	0.70088	-0.6539	0.62543	T	0.345	0.71012	T	9	0.835575	0.82714	D	0.008738	0.23074	T	0.329	0.65126	0.658	0.79585	0.0482279557977	0.04254	0.7992308216242588	0.79876	0.0772813241879	0.08684	0.549436211586	0.45778	T	0.025664	0.19147	T	0.300886	0.83039	D	0.194426	0.82820	D	0.998421311378479	0.94111	D	0.817118	0.47377	T	0.07565627	0.17060	0.14346682	0.34095	0.07565627	0.17060	0.14346682	0.34094	-8.957	0.67420	D	.	.	0.263	0.49731	B	.;.;.;.	.;.;.;.	3.232649	0.44089	21.9	0.9885997767807565	0.47459	0.91955	0.54626	D	AEFDGBI	0.546049	0.56031	D	0.323371730328422	0.57349	3.901994	0.204809258581609	0.50113	3.206886	0.393746371250219	0.20069	0.080785	0.02172	0	0.096583	0.02683	0	0.060301	0.00762	0	0.058706	0.01089	0	.	.	4.77	4.77	0.60425	4.323000	0.59010	7.474000	0.59184	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.068000	0.16518	0.0:0.0:1.0:0.0	14.006	0.63981	698	0.58074	von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;von Willebrand factor, type D domain|von Willebrand factor, type D domain|von Willebrand factor, type D domain;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	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1083.98	37	chr7	100788077	.	G	A	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.23;DP=1044;ExcessHet=0.0000;FS=0.736;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.59;ReadPosRankSum=-6.640e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:73,40:113:99:1098,0,2036	20	0	1	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|1:366,151,49:566:99:0|1:100952942_T_G:5239,0,14914,4283,13311,19504:100952942	0	0	19	0
chr7	100953028	100953028	-	GTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	exonic	MUC3A	.	frameshift insertion	MUC3A:NM_005960:exon2:c.1249_1250insGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC:p.A417Gfs*177,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	36435.43	913	chr7	100953028	.	G	A,GGTACCATGGTGACATTCACAACCATGAACCCATCCTCTCTGAGTACAGACATATCTACCACCACACTGAAAAATATCAC	36435.43	.	AC=14,1;AF=0.333,0.024;AN=42;BaseQRankSum=-2.516e+00;DP=15155;ExcessHet=17.4423;FS=4.148;InbreedingCoeff=-0.5556;MLEAC=14,1;MLEAF=0.333,0.024;MQ=57.92;MQRankSum=-3.081e+00;QD=3.07;ReadPosRankSum=3.23;SOR=1.199	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:591,76,0:667:99:0|1:100953014_G_A:1412,0,24587,3191,24816,28007:100953014	6	0	14	0
chr7	100953071	100953071	C	T	exonic	MUC3A	.	nonsynonymous SNV	MUC3A:NM_005960:exon2:c.C1292T:p.S431F,	.	.	416	1044	62	0	0	62	0.0288372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.386e-06	0.0028	3.574e-06	5.169e-06	4.765e-06	1.29e-06	9.3e-07	1.12e-06	7.5e-07	0	0	0	0	2.69e-05	0	4.765e-06	0	0	0	0.0042	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.07811	.	.	.	.	.	.	.	0.0868344	0.14800	T	.	.	.	.	.	.	.	.	.	0.019857046747126048	0.01938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475152	0.14192	T	.	.	.	.	.	.	.	.	-7.542	0.57905	D	.	.	0.254	0.48827	B	.;.	.;.	0.947004	0.13229	9.730	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337000	0.19582	-1.142000	0.06206	0.529000	0.24592	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	.	.	.	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	0.1667	8258.55	795	chr7	100953071	.	C	T	8258.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=3.74;DP=15016;ExcessHet=2.5830;FS=6.358;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=57.50;MQRankSum=-3.156e+00;QD=1.60;ReadPosRankSum=-2.712e+00;SOR=1.526	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:629,57:686:99:0|1:100953014_G_A:500,0,26240:100953014	14	0	7	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|2:413,50,117:580:99:0|1:100953112_T_A:3670,2813,20005,0,15242,16990:100953112	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	0/1:416,109,38:564:99:3325,0,17140,2981,15872,20335	1	0	18	0
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	0/1:356,209,0:680:99:.:.:8016,0,14290,9087,14948,24036	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|2:734,119,122:975:99:0|1:100953486_C_A:2913,126,30543,0,25780,30411:100953486	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	0/2:795,57,124:976:99:.:.:2778,2818,35644,0,30713,33463	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	0/2:826,82,132:1040:99:.:.:3056,2099,36536,0,31240,34286	3	0	15	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|1:640,75,0:715:99:0|1:100954953_T_A:1223,0,26648,3149,26873,30023:100954953	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|2:426,0,35:461:99:0|1:100955545_T_A:187,1470,19357,0,17888,17782:100955545	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|2:426,0,35:461:99:0|1:100955545_T_A:187,1470,19357,0,17888,17782:100955545	3	0	14	1
chr7	100955917	100955917	G	0	exonic	MUC3A	.	.	.	.	.	766	657	81	4	14	103	0.0634355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	30532.88	499	chr7	100955917	.	G	C,*	30532.88	.	AC=10,3;AF=0.278,0.083;AN=36;BaseQRankSum=-1.985e+00;DP=19448;ExcessHet=11.8493;FS=4.100;InbreedingCoeff=-0.5273;MLEAC=11,3;MLEAF=0.306,0.083;MQ=56.33;MQRankSum=-1.229e+01;QD=2.43;ReadPosRankSum=2.52;SOR=1.144	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:765,75,0:840:99:0|1:100955895_T_A:846,0,31896,3149,32122,35271:100955895	5	0	10	3
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|1:714,85,0:799:99:0|1:100955957_C_T:1420,0,29725,3569,29981,33550:100955957	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|2:358,122,153:633:99:0|1:100960582_T_A:7133,1235,15469,0,11402,14185:100960582	0	0	15	0
chr7	100992904	100992904	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G2341C:p.V781L,	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	.	.	.	.	.	.	1.000	N	0	N	2.73	T	-0.976	T	0.012	T	0.104	-1.363	0.027	-0.962	-1.836	-1.057	.	0.017	0.0097231580652	.	.	0.0003	0	0	0	0	0.0003	0	0.0005	6.47e-05	10	154602	rs775213839	0.0001	0.0002	0.0001	0.0002	0.0005	0.0001	0.0001	0.0001	0.0001	0	0	0	0	0	0.0005	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0002	0.0011	0.0001	0.0001	0.0004	0.0003	4.923e-05	0	0	0	0	0	0	0.0003	0	0.0011	0.479	0.08261	T	0.203	0.28391	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.345	0.03330	N	2.73	0.11839	T	-0.21	0.10308	N	0.073	0.04668	-0.9763	0.35838	T	0.012	0.04700	T	6	0.030092925	0.01136	T	0.009723	0.25381	T	0.017	0.02790	.	.	0.0138822411134	0.00435	0.006663486843002192	0.00634	.	.	0.503233790398	0.39279	T	0.004011	0.03423	T	-0.60419	0.00137	T	-0.802524	0.01840	T	0.019986963157191	0.00699	T	0.188081	0.01971	T	0.06951128	0.15235	0.07785018	0.17381	0.06951128	0.15235	0.07785018	0.17381	-3.997	0.23759	T	.	.	0.177	0.46481	B	.;.	.;.	-1.017246	0.00747	0.023	0.19419920571389199	0.00654	0.00070	0.00494	N	AEFBI	0.032396	0.03651	N	-1.48038028265341	0.01989	0.08734842	-1.66588318313298	0.01296	0.05845826	1.17607747901002E-4	0.05269	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.481	-0.962	0.09806	-2.596000	0.00969	-4.867000	0.01950	-2.517000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	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	4265.98	340	chr7	100992904	.	G	C	4265.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.646e+00;DP=7918;ExcessHet=0.0000;FS=1.202;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.06;MQRankSum=-5.956e+00;QD=6.34;ReadPosRankSum=0.611;SOR=0.579	GT:AD:DP:GQ:PL	0/1:463,210:673:99:4280,0,12469	20	0	1	0
chr7	100996153	100996153	G	C	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon2:c.G5590C:p.V1864L,	.	.	788	732	2	0	0	2	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	.	.	.	.	.	.	1.000	N	0	N	2.73	T	-0.980	T	0.013	T	0.14	-1.369	0.026	-0.944	-1.647	-1.921	.	0.064	0.00770671566112	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1305733286	0.0014	0.0076	0.0015	0.0014	0.0017	0.0014	0.0013	0.0016	0.0016	0.0002	0.0006	0.0003	0	0.0004	0.0013	0.0017	0.0008	0.0007	0.0017	0.0069	0.0018	0.0014	0.0026	0.0015	0.0014	0.0018	0.0017	0.0004	0.0038	0.0025	0.0013	0	0.0023	0	0.0021	0.0019	0.0026	0.668	0.04588	T	0.177	0.33219	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0	0.06538	N	2.73	0.11839	T	-0.43	0.14390	N	0.077	0.05162	-0.9800	0.35002	T	0.013	0.04890	T	6	0.016234547	0.00342	T	0.007707	0.20457	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.00941262599498134	0.00904	.	.	0.534649372101	0.43689	T	0.004547	0.03958	T	-0.350214	0.04714	T	-0.740834	0.03856	T	0.00857765827161554	0.00105	T	0.191481	0.02052	T	0.073849864	0.16532	0.066425376	0.13606	0.073849864	0.16532	0.066425376	0.13605	-0.292	0.00641	T	.	.	0.186	0.40229	B	.;.	.;.	-0.959578	0.00830	0.028	0.21294105380996659	0.00805	0.00056	0.00418	N	AEFI	0.018039	0.00516	N	-1.50142002448653	0.01841	0.08071402	-1.6866193745322	0.01197	0.05391158	9.20458990407013E-5	0.04910	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	0.472	-0.944	0.09862	-0.480000	0.06639	.	.	-2.019000	0.00436	0.000000	0.06391	.	.	0.000000	0.00833	.	.	.	818	0.41518	.;.	.	.	.	.	.	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	128.78	34	chr7	100996153	.	G	C	128.78	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.377e+00;DP=731;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0794;MLEAC=3;MLEAF=0.071;MQ=36.10;MQRankSum=0.493;QD=1.03;ReadPosRankSum=-2.360e-01;SOR=0.055	GT:AD:DP:GQ:PL	0/1:49,7:56:97:97,0,1771	18	0	3	0
chr7	101040710	101040714	AACTT	-	exonic	MUC17	.	stopgain	MUC17:NM_001040105:exon3:c.9294_9298del:p.T3099*,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.124e-05	0	8.645e-05	0	0	6e-05	0	0	3.84e-05	1	26028	rs773870537	2.669e-05	2.668e-05	2.043e-05	3.301e-05	0.0010	1.998e-05	1.755e-05	0.0005	0.0003	8.996e-05	2.246e-05	0	0	0	0.0010	1.529e-05	9.938e-05	6.958e-05	6.577e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	13908.94	42	chr7	101040709	.	CAACTT	C	13908.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.740e-01;DP=5499;ExcessHet=0.0000;FS=1.090;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=19.08;ReadPosRankSum=2.07;SOR=0.757	GT:AD:DP:GQ:PL	0/1:368,361:729:99:13923,0,14284	20	0	1	0
chr7	102491004	102491004	-	GTCTGGGGCCTGCCGGC	exonic	RASA4B	.	frameshift insertion	RASA4B:NM_001367767:exon17:c.1949_1950insGCCGGCAGGCCCCAGAC:p.A651Pfs*14,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1485832011	0.0010	0.0015	0.0009	0.0010	0.0029	0.0009	0.0009	0.0025	0.0024	0.0002	0.0004	7.387e-05	0	0.0001	0.0020	0.0010	0.0008	0.0029	0.0008	0.0013	0.0008	0.0009	0.0029	0.0007	0.0007	0.0016	0.0012	0.0001	0.0039	0.0004	0	0	0	0.0071	0.0014	0.0005	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	124.11	7	chr7	102491004	.	A	AGTCTGGGGCCTGCCGGC	124.11	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.830e-01;DP=142;ExcessHet=0.1190;FS=0.000;InbreedingCoeff=-0.0730;MLEAC=2;MLEAF=0.053;MQ=32.99;MQRankSum=0.967;QD=4.60;ReadPosRankSum=-3.740e-01;SOR=0.066	GT:AD:DP:GQ:PL	0/1:15,2:17:39:39,0,624	17	0	2	2
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	0/1:5,2:7:34:34,0,168	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	0/1:131,31:167:99:.:.:283,0,4493	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	0/1:131,31:167:99:.:.:283,0,4493	10	0	10	1
chr7	103297467	103297467	C	T	exonic	PMPCB	.	nonsynonymous SNV	PMPCB:NM_004279:exon1:c.C8T:p.A3V,	.	.	432	1085	3	2	0	7	0.00321543	.	.	1326658	not_provided|Inborn_genetic_diseases|PMPCB-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	0.0	B	0.001	B	0.000	N	0.929	N	0	N	2.64	T	-1.028	T	0.016	T	0.427	1.558	11.16	2.21	0.826	1.069	6.550	0.131	0.0350294220363	0.0025	0.000199681	0.0022	0.0006	0.0005	0	0.0003	0.0036	0	0.0004	0.0021863	338	154602	rs138251541	0.0031	0.0030	0.0031	0.0031	0.0037	0.0030	0.0030	0.0036	0.0036	0.0006	0.0008	0.0004	2.592e-05	0.0005	0.0012	0.0037	0.0022	0.0010	0.0022	0.0022	0.0023	0.0022	0.0042	0.0020	0.0020	0.0038	0.0036	0.0006	0.0154	0.0005	0	0	0.0002	0	0.0042	0.0009	0.0008	0.065	0.39575	T	0.146	0.32891	T	0.0	0.02946	B	0.0	0.04355	B	0.000258	0.46924	N	0.181103	1	0.27101	N	1.355	0.33814	L	2.64	0.13095	T	-0.65	0.18877	N	0.346	0.39558	-1.0282	0.21038	T	0.016	0.06711	T	10	0.0047867	0.00101	T	0.035029	0.56072	D	0.131	0.35738	.	.	0.215869574891	0.21205	0.49009211252158025	0.48929	0.128824282099	0.14521	0.580719769001	0.50187	T	0.10003	0.40543	T	-0.427538	0.01534	T	-0.381778	0.35516	T	0.0559007256045956	0.06508	T	0.784922	0.42251	T	0.07176204	0.15910	0.2001451	0.43931	0.087343544	0.20336	0.17908221	0.40619	-6.081	0.46952	T	.	.	0.401	0.59650	A	.;.	.;.	1.947884	0.24740	16.51	0.98672318710746298	0.44498	0.04510	0.10135	N	ALL	0.052822	0.09463	N	-0.742725468203699	0.14833	0.7422049	-0.672040839057638	0.17661	0.9400987	1.0	0.98316	0.024636	0.00146	3	0.218748	0.04544	0	0.166054	0.03999	2	0.56214	0.19341	0	.	.	4.98	2.21	0.27042	1.286000	0.32877	0.416000	0.18166	0.524000	0.24156	0.274000	0.25084	0.203000	0.23585	0.045000	0.14751	0.0:0.7091:0.0:0.2909	6.550	0.21624	618	0.66225	.;.	.	.	.	.	.	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	562.98	39	chr7	103297467	.	C	T	562.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.227;DP=726;ExcessHet=0.0000;FS=3.005;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-6.610e-01;SOR=0.288	GT:AD:DP:GQ:PL	0/1:19,20:39:99:577,0,495	20	0	1	0
chr7	103557156	103557156	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon38:c.C5618T:p.T1873I	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	5	1441	66	10	0	86	0.0289757	.	.	177377	not_specified|Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_provided|RELN-related_disorder	MedGen:CN169374|MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	0.005	B	0.007	B	0.000	D	0.995	D	1.67	L	1.88	T	-1.107	T	0.063	T	0.207	2.227	13.40	5.77	2.885	6.147	14.526	0.064	.	0.0023	0.00259585	0.0044	0.0006	0.0013	0	0.0011	0.0038	0.0033	0.0149	0.0039974	618	154602	rs41275239	0.0036	0.0036	0.0031	0.0041	0.0156	0.0035	0.0035	0.0149	0.0146	0.0005	0.0010	0.0089	2.522e-05	0.0008	0.0125	0.0029	0.0039	0.0156	0.0027	0.0027	0.0025	0.0029	0.0193	0.0025	0.0024	0.0161	0.0150	0.0006	0.0154	0.0009	0.0081	0	0.0004	0.0102	0.0033	0.0033	0.0193	0.409	0.10659	T	0.092	0.39954	T	0.001	0.12996	B	0.002	0.12992	B	0.000047	0.53742	D	0.167803	0.995457	0.42699	D	0.665	0.16292	N	1.88	0.23884	T	-1.15	0.29525	N	0.297	0.36884	-1.1066	0.03378	T	0.063	0.26029	T	10	0.006139159	0.00138	T	.	.	.	0.064	0.18567	.	.	0.151262610727	0.14761	0.36964579770135547	0.36878	0.185958582119	0.20903	0.539009332657	0.44306	T	0.057476	0.30576	T	-0.537201	0.00348	T	-0.532104	0.19077	T	0.015456933726748	0.00347	T	0.867413	0.56831	D	0.14101699	0.32510	0.17155404	0.39346	0.157696	0.35519	0.17927895	0.40651	-3.941	0.22918	T	0.10417546178359656	0.08118	0.088	0.11606	B	.;.;.	.;.;.	3.200901	0.43526	21.8	0.99059792804306646	0.51459	0.94579	0.61626	D	AEFBI	0.811231	0.73427	D	0.110212383688809	0.46938	2.926677	0.307183394079608	0.55960	3.758986	0.834191241572407	0.24747	0.536767	0.22168	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.77	5.77	0.91077	6.195000	0.72012	11.931000	0.99922	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.07:0.0:0.93:0.0	14.526	0.67476	901	0.24189	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	619.98	37	chr7	103557156	.	G	A	619.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.176;DP=733;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.48;ReadPosRankSum=-3.630e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/1:23,23:46:99:634,0,624	20	0	1	0
chr7	103561820	103561820	G	A	exonic	RELN	.	nonsynonymous SNV	RELN:NM_005045:exon35:c.C5344T:p.R1782C	Lissencephaly 2 (Norman-Roberts type), Autosomal recessive	.	.	.	.	.	.	.	.	.	.	194119	Familial_temporal_lobe_epilepsy_7|Norman-Roberts_syndrome|not_provided|See_cases	MONDO:MONDO:0014639,MedGen:C4225327,OMIM:616436,Orphanet:101046|MONDO:MONDO:0009760,MedGen:C0796089,OMIM:257320,Orphanet:89844|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.07	T	0.941	P	0.54	P	0.000	D	1.000	D	2.28	M	1.98	T	-1.060	T	0.099	T	0.587	4.973	29.0	5.93	2.814	7.394	20.336	0.173	0.019581890999	0.0008	0.000199681	0.0002	0.0012	0.0003	0	0	6.004e-05	0.0011	0.0002	0.0001617	25	154602	rs138576725	6.02e-05	6.02e-05	6.534e-05	5.501e-05	0.0014	4.962e-05	4.627e-05	0.0011	0.0009	0.0014	0.0001	0	0	0	0.0002	1.799e-05	0.0001	0.0001	0.0004	0.0004	0.0004	0.0003	0.0012	0.0003	0.0003	0.0010	0.0009	0.0012	0	0.0002	0	0	0	0	4.412e-05	0.0005	0.0002	0.104	0.37750	T	0.031	0.53788	D	0.941	0.52883	P	0.308	0.48825	B	0.000006	0.62929	D	0.111100	0.999988	0.54805	D	2.195	0.61839	M	1.98	0.21865	T	-1.66	0.39692	N	0.463	0.52208	-1.0597	0.11830	T	0.099	0.37034	T	10	0.0978826	0.17658	T	0.019582	0.41979	T	0.173	0.43840	.	.	0.15499578495	0.15088	0.5377606171714939	0.53701	0.504568041336	0.48730	0.235546335578	0.02403	T	0.126833	0.45347	T	-0.358187	0.04233	T	-0.322666	0.42281	T	0.116437543128571	0.14078	T	0.939406	0.77188	D	0.12524234	0.29365	0.13013415	0.31275	0.12524234	0.29365	0.13013415	0.31274	-12.6	0.87650	D	0.36647256744774304	0.46242	0.148	0.32637	B	.;.;.	.;.;.	3.791912	0.54583	23.5	0.99938288255536867	0.99698	0.99016	0.90001	D	AEFBI	0.951423	0.96597	D	0.664222789636098	0.77293	6.646826	0.713602011137291	0.83413	8.014667	0.999999884425708	0.74766	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.93	5.93	0.95888	7.511000	0.80606	4.661000	0.44237	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	20.336	0.98740	896	0.25515	EGF-like domain;.;EGF-like domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2273.98	34	chr7	103561820	.	G	A	2273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.59;DP=880;ExcessHet=0.0000;FS=1.219;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=-6.250e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:83,83:166:99:2288,0,2203	20	0	1	0
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	0/1:95,27:126:57:57,0,1915	11	0	6	4
chr7	128479325	128479325	T	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.T370C:p.C124R,	.	.	438	1023	61	0	0	61	0.0289511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.895	N	2.82	T	-0.911	T	0.159	T	0.493	-1.114	0.131	-3.33	-0.521	-0.728	3.406	0.150	0.0174515873499	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs2896399	6.91e-07	0.0003	0	1.392e-06	1.171e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.171e-05	7.762e-05	0.0047	6.85e-05	8.73e-05	0.0002	4.257e-05	3.336e-05	3.499e-05	2.115e-05	0.0001	0	0	0.0003	0	0.0001	0	6.298e-05	0	0.0002	0.543	0.07211	T	0.446	0.14075	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	0.999999	0.08975	N	0	0.06538	N	-1.5	0.81318	D	-0.09	0.08340	N	0.091	0.06990	-0.9107	0.46768	T	0.159	0.49245	T	10	0.040916353	0.02701	T	0.017452	0.39153	T	0.150	0.39571	.	.	0.281780670237	0.27795	0.3364087587855413	0.33553	1.77259410334	0.91302	0.311764478683	0.12173	T	0.009243	0.08422	T	-0.023595	0.48339	T	-0.271669	0.47650	T	0.0109154101652592	0.00156	T	0.0324967	0.00210	T	0.16811484	0.37249	0.10462155	0.25132	0.16811484	0.37249	0.10462155	0.25131	-3.247	0.14219	T	.	.	0.058	0.01645	B	.;.	.;.	-0.248706	0.02851	0.401	0.19786044545260884	0.00683	0.00784	0.03216	N	AEFDGBI	0.026016	0.01879	N	-1.68615344627752	0.00892	0.03860894	-1.71130139537614	0.01088	0.04887346	0.983306935734051	0.30538	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.65	-3.33	0.04649	-0.038000	0.12096	-0.198000	0.10972	-1.804000	0.00620	0.000000	0.06391	0.000000	0.08366	0.326000	0.25110	0.1971:0.2519:0.0:0.5509	3.406	0.06915	340	0.86005	.;.	.	.	.	.	.	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	0.3	3229.78	206	chr7	128479325	.	T	C	3229.78	.	AC=9;AF=0.300;AN=30;BaseQRankSum=2.39;DP=4419;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4018;MLEAC=11;MLEAF=0.367;MQ=57.67;MQRankSum=-1.368e+01;QD=1.57;ReadPosRankSum=-3.614e+00;SOR=5.400	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,23:225:99:0|1:128479325_T_C:358,0,8391:128479325	6	0	9	6
chr7	128479326	128479326	G	C	exonic	METTL2B	.	nonsynonymous SNV	METTL2B:NM_018396:exon3:c.G371C:p.C124S,	.	.	439	1022	61	0	0	61	0.0289786	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.0	B	0.0	B	0.070	N	1.000	N	-0.345	N	2.87	T	-0.882	T	0.184	T	0.33	-1.681	0.012	-0.54	0.001	-0.407	1.070	0.035	0.0178834836329	.	.	0.0004	0.0004	0.0003	0.0003	0.0002	0.0005	0	0.0002	3.84e-05	1	26028	rs1053120	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0047	0.0001	0.0001	0.0002	8.172e-05	6.772e-05	5.008e-05	3.232e-05	0.0001	0	7.124e-05	0.0003	0	0.0004	0	9.519e-05	0	0.0002	0.758	0.03719	T	0.539	0.11004	T	0.0	0.02946	B	0.0	0.01387	B	0.069710	0.02236	N	1.659300	1	0.08975	N	-1.245	0.00777	N	-1.44	0.80815	T	0.31	0.04022	N	0.028	0.00618	-0.8819	0.49609	T	0.184	0.53346	T	10	0.027546227	0.00899	T	0.017883	0.39748	T	0.035	0.08770	0.413	0.45052	0.143124449307	0.13826	0.18685623340228857	0.18603	1.30509170409	0.83107	0.288228809834	0.08665	T	0.005735	0.05178	T	-0.0687896	0.41519	T	-0.336588	0.40731	T	0.0201303625068684	0.00714	T	0.0364963	0.00253	T	0.06934343	0.15184	0.05611007	0.09968	0.06934343	0.15184	0.05611007	0.09967	-1.643	0.02320	T	.	.	0.063	0.01622	B	.;.	.;.	-0.660452	0.01415	0.083	0.18282609098011249	0.00568	0.00146	0.00887	N	AEFDGBI	0.017860	0.00498	N	-1.54153135271646	0.01584	0.06923818	-1.55325254833429	0.01954	0.08918713	0.918060544389619	0.26560	0.722319	0.85440	0	0.581341	0.33841	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	2.57	-0.54	0.11268	-0.000000	0.12910	-3.007000	0.03146	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.356000	0.25796	0.2318:0.3902:0.2301:0.1479	1.070	0.01518	340	0.86005	.;.	.	.	.	.	.	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	0.3	3281.73	207	chr7	128479326	.	G	C	3281.73	.	AC=9;AF=0.300;AN=30;BaseQRankSum=1.60;DP=4446;ExcessHet=4.7172;FS=44.472;InbreedingCoeff=-0.4190;MLEAC=11;MLEAF=0.367;MQ=57.73;MQRankSum=-1.377e+01;QD=1.60;ReadPosRankSum=-3.844e+00;SOR=5.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:202,23:225:99:0|1:128479325_T_C:358,0,8391:128479325	6	0	9	6
chr7	128815780	128815780	A	T	exonic	CCDC136	.	nonsynonymous SNV	CCDC136:NM_022742:exon16:c.A3212T:p.E1071V	.	.	399	1117	6	0	0	6	0.00267857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.989	D	0.79	P	0.059	N	1.000	N	1.935	M	1.23	T	-1.006	T	0.102	T	0.213	2.698	14.98	3.61	1.925	-0.026	7.544	0.063	.	0.0057	0.000798722	0.0112	0.0014	0.0079	0	0.0106	0.0177	0	0.0032	0.0051164	791	154602	rs189812175	0.0072	0.0072	0.0073	0.0071	0.0084	0.0071	0.0071	0.0082	0.0082	0.0009	0.0019	0.0077	0	0.0053	0.0066	0.0084	0.0066	0.0024	0.0050	0.0050	0.0055	0.0045	0.0086	0.0047	0.0046	0.0081	0.0078	0.0013	0	0.0024	0.0081	0	0.0038	0.0034	0.0086	0.0047	0.0015	0.003	0.68238	D	0.011	0.64786	D	0.95	0.53885	P	0.648	0.52381	P	0.058715	0.22381	N	0.373916	1	0.18612	N	1.385	0.34509	L	1.23	0.36872	T	-1.19	0.30346	N	0.251	0.28381	-1.0064	0.28034	T	0.102	0.37644	T	10	0.004013747	0.00078	T	.	.	.	0.063	0.18251	.	.	0.350088858571	0.34617	0.2660081045842865	0.26513	0.106303491595	0.12020	0.269780755043	0.06113	T	0.030687	0.21692	T	-0.535231	0.00358	T	-0.535625	0.18728	T	0.0106071016090234	0.00148	T	0.464953	0.13579	T	0.10979737	0.25958	0.053690325	0.09093	0.10979737	0.25957	0.053690325	0.09093	-4.872	0.35419	T	.	.	0.104	0.19032	B	.	.	1.686454	0.21489	15.22	0.98835225411423056	0.47018	0.22014	0.21602	N	AEFDBHCI	0.055115	0.10079	N	-0.341360720557316	0.27591	1.51501	-0.462041797336302	0.23208	1.264442	0.999785897404323	0.43007	0.634777	0.41761	0	0.610034	0.51514	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	4.79	3.61	0.40494	0.226000	0.17557	0.860000	0.22220	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.8968:0.0:0.1032:0.0	7.544	0.26921	679	0.60090	.	.	.	.	.	.	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	2068.98	42	chr7	128815780	.	A	T	2068.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.749e+00;DP=1508;ExcessHet=0.0000;FS=2.137;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.37;ReadPosRankSum=1.76;SOR=0.927	GT:AD:DP:GQ:PL	0/1:62,82:144:99:2083,0,1834	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	0/1:26,10,0:36:99:342,0,1041,420,1071,1491	5	3	3	0
chr7	134199257	134199257	G	A	exonic	LRGUK	.	nonsynonymous SNV	LRGUK:NM_001365700:exon14:c.G1583A:p.R528H	.	.	439	1076	7	0	0	7	0.00324224	.	.	3185132	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.8	M	2.26	T	-0.918	T	0.120	T	0.891	5.138	32	6.11	2.906	6.381	20.329	0.437	.	0.0056	0.00299521	0.0057	0.0009	0.0022	0.0001	0.0165	0.0076	0.0077	0.0022	0.0055691	861	154602	rs61753513	0.0059	0.0059	0.0060	0.0058	0.0057	0.0058	0.0058	0.0055	0.0055	0.0010	0.0019	0.0323	2.523e-05	0.0149	0.0012	0.0057	0.0069	0.0019	0.0050	0.0050	0.0047	0.0053	0.0051	0.0047	0.0046	0.0047	0.0045	0.0011	0.0121	0.0015	0.0366	0	0.0168	0.0034	0.0051	0.0066	0.0027	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000002	0.62929	D	0.000000	0.999889	0.50402	D	2.565	0.75005	M	2.26	0.17596	T	-4.43	0.77554	D	0.871	0.86833	-0.9182	0.45797	T	0.120	0.42015	T	10	0.010990262	0.00242	T	.	.	.	0.437	0.74164	.	.	0.681819901562	0.67911	0.6592648641722935	0.65863	0.340002723754	0.35944	0.596505463123	0.52411	T	0.00581	0.05258	T	-0.143317	0.29364	T	0.0238312	0.71879	D	0.0326715590395157	0.02417	T	0.953605	0.83911	D	0.6505759	0.75395	0.6110574	0.77374	0.6505759	0.75396	0.6110574	0.77375	-12.356	0.86541	D	.	.	0.329	0.55117	B	.;.	.;.	5.573080	0.92235	32	0.999421586567528	0.99824	0.97339	0.74126	D	AEFBI	0.707820	0.66243	D	0.938169765441384	0.93500	12.08086	0.913782718662565	0.96145	14.354	0.999999999786399	0.74766	0.516011	0.20929	0	0.547309	0.14657	0	0.602189	0.34648	0	0.586402	0.36253	0	.	.	6.11	6.11	0.99132	6.189000	0.71974	11.875000	0.98678	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.329	0.98710	876	0.30350	Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit;Guanylate kinase/L-type calcium channel beta subunit|Guanylate kinase-like domain|Guanylate kinase/L-type calcium channel beta subunit	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	871.98	34	chr7	134199257	.	G	A	871.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.27;DP=784;ExcessHet=0.0000;FS=2.673;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.81;ReadPosRankSum=0.218;SOR=0.977	GT:AD:DP:GQ:PL	0/1:60,39:99:99:886,0,1408	20	0	1	0
chr7	139345537	139345537	C	T	exonic	FMC1;FMC1-LUC7L2	.	nonsynonymous SNV	FMC1-LUC7L2:NM_001244584:exon2:c.C175T:p.L59F	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.998	D	0.001	D	0.995	D	2.045	M	1.29	T	-0.594	T	0.269	T	0.372	3.858	19.60	5.52	2.585	2.494	12.753	0.095	0.0152475413268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	1.361e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.109	0.92824	T	1.0	0.90584	D	0.998	0.88582	D	0.000642	0.42656	D	0.161552	0.994787	0.42415	D	.	.	.	0.73	0.50721	T	-2.59	0.55821	D	0.351	0.46835	-0.5943	0.65048	T	0.269	0.64066	T	10	0.32474786	0.49794	T	0.015248	0.35873	T	0.095	0.27398	0.421	0.46365	0.606545613963	0.60339	0.6939623212929414	0.69337	1.15867681105	0.79411	.	.	.	0.05753	0.30593	T	-0.0631646	0.42413	T	-0.328508	0.41635	T	0.964047789573669	0.66839	D	0.817118	0.47377	T	0.19496208	0.41267	0.18920237	0.42253	0.19496208	0.41267	0.18920237	0.42252	-5.028	0.37143	T	.	.	0.412	0.60226	A	.;.	.;.	4.767781	0.77149	26.6	0.99893869531164947	0.96742	0.81075	0.40557	D	AEFBCI	0.690377	0.65073	D	0.60313048608797	0.73371	5.955438	0.60261702301756	0.75131	6.256398	0.998446765918108	0.36977	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	2.565000	0.45602	5.809000	0.49993	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.9247:0.0:0.0753	12.753	0.56691	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	0	0	0	0	0.02381	960.98	35	chr7	139345537	.	C	T	960.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.578;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.68;ReadPosRankSum=0.629;SOR=0.772	GT:AD:DP:GQ:PL	0/1:50,40:90:99:975,0,1205	20	0	1	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	1/1:0,65,0,0:65:99:2853,195,0,2853,195,2853,2853,195,2853,2853	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	1/1:0,65,0,0:65:99:2853,195,0,2853,195,2853,2853,195,2853,2853	0	16	2	0
chr7	142940391	142940391	C	T	exonic	LLCFC1	.	nonsynonymous SNV	LLCFC1:NM_001382496:exon2:c.C173T:p.S58F,	.	.	425	1078	18	1	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.005	N	0.709	D	1.445	L	.	.	-0.373	T	0.256	T	0.46	3.113	16.40	4.38	2.430	2.396	12.634	0.162	0.00688694491776	0.0021	0.000399361	0.0018	0.0006	0.0013	0	0.0014	0.0026	0	0.0010	0.0019405	300	154602	rs143475597	0.0029	0.0029	0.0028	0.0029	0.0054	0.0028	0.0028	0.0039	0.0034	0.0004	0.0009	0.0004	0	0.0012	0.0054	0.0034	0.0028	0.0011	0.0021	0.0021	0.0023	0.0020	0.0035	0.0019	0.0019	0.0032	0.0030	0.0006	0	0.0022	0.0003	0	0.0015	0.0034	0.0035	0.0019	0.0010	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	0.004720	0.33466	N	0.139105	0.70857	0.33495	D	.	.	.	.	.	.	-5.91	0.88904	D	0.374	0.41557	-0.3731	0.72866	T	0.256	0.62665	T	9	0.01358062	0.00288	T	0.006887	0.18233	T	0.162	0.41843	.	.	0.183819452728	0.17975	0.21092932366345982	0.21008	0.185773801594	0.20887	.	.	.	.	.	.	-0.326534	0.06376	T	-0.241964	0.50606	T	0.0327464138630547	0.02429	T	.	.	.	.	.	.	.	.	.	.	.	-4.499	0.30876	T	.	.	0.623	0.69832	P	.	.	3.954746	0.57957	23.9	0.99783856998318676	0.87043	0.69069	0.34043	D	AEFDBCI	0.298094	0.40750	N	0.4490503240225	0.64149	4.663066	0.393618273009087	0.61171	4.313518	0.99995486208824	0.48110	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.38	4.38	0.52019	2.406000	0.44210	.	.	0.599000	0.40250	0.986000	0.36153	1.000000	0.68203	0.923000	0.45890	0.0:1.0:0.0:0.0	12.634	0.56035	683	0.59664	.	.	.	.	.	.	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	7739.68	33	chr7	142940391	.	C	T	7739.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.148;DP=1318;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.82;ReadPosRankSum=0.468;SOR=0.662	GT:AD:DP:GQ:PL	0/1:135,109:244:99:2698,0,3212	18	0	3	0
chr7	142954267	142954267	G	A	exonic	KEL	.	nonsynonymous SNV	KEL:NM_000420:exon8:c.C841T:p.R281W,	.	.	414	1104	4	0	0	4	0.00180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.663	P	0.716	N	1.000	N	1.1	L	-0.88	T	-0.514	T	0.297	T	0.113	2.094	12.96	-1.83	-0.151	0.025	16.453	0.216	.	0.0078	0.00519169	0.0072	0.0030	0.0053	0.0001	0.0059	0.0105	0.0099	0.0016	0.0074191	1147	154602	rs8176059	0.0096	0.0096	0.0098	0.0093	0.0108	0.0094	0.0094	0.0106	0.0105	0.0015	0.0050	0.0231	0.0002	0.0059	0.0035	0.0108	0.0097	0.0022	0.0068	0.0068	0.0074	0.0062	0.0102	0.0065	0.0063	0.0096	0.0093	0.0021	0	0.0054	0.0164	0	0.0072	0.0068	0.0102	0.0114	0.0029	0.011	0.55530	D	0.017	0.60337	D	0.998	0.73220	D	0.663	0.52893	P	0.715978	0.06285	N	1.168140	1	0.08975	N	1.95	0.52479	M	-0.88	0.74689	T	-4.58	0.78807	D	0.341	0.38232	-0.5142	0.68132	T	0.297	0.66801	T	10	0.042672545	0.03039	T	.	.	.	0.216	0.50959	.	.	0.77929513315	0.77725	0.4209071790137808	0.42006	0.31947242	0.34145	0.179167568684	0.00086	T	0.635929	0.88775	D	-0.484595	0.00696	T	-0.458476	0.26767	T	0.0739271724869558	0.09191	T	0.666633	0.27564	T	0.4332853	0.62967	0.27481008	0.53412	0.4332853	0.62967	0.27481008	0.53411	-6.001	0.46288	T	.	.	0.115	0.23077	B	.	.	2.325835	0.29792	18.23	0.9942403056033069	0.63935	0.06808	0.12832	N	AEFBCI	0.321661	0.42439	N	-0.665955217637503	0.16996	0.8709133	-0.845029184519071	0.13407	0.6953354	0.0910755204390798	0.16126	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	6.07	-1.83	0.07410	0.091000	0.14885	.	.	-1.097000	0.01519	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.0:0.3244:0.6756	16.453	0.83840	670	0.60992	Peptidase M13, N-terminal domain	KEL|KEL|KEL|TRPV6|KEL|PIP	Adipose_Visceral_Omentum|Artery_Aorta|Cells_Cultured_fibroblasts|Lung|Lung|Whole_Blood	.	.	.	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	2805.98	38	chr7	142954267	.	G	A	2805.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.84;DP=948;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.246;SOR=0.681	GT:AD:DP:GQ:PL	0/1:96,105:201:99:2820,0,2253	20	0	1	0
chr7	143395318	143395318	C	T	splicing	EPHA1	NM_005232:exon12:c.2083+1G>A	.	.	.	.	434	1079	9	0	0	9	0.00415321	0.9999	0.926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.403	14.00	4.83	2.669	7.583	18.479	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	.	4.788e-06	4.788e-06	4.084e-06	5.5e-06	0.0002	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.496e-06	1.656e-05	0	6.565e-06	6.562e-06	0	1.342e-05	6.538e-05	0	0	.	.	0	0	6.538e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257862	0.79330	D	0.132624	0.79062	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.298960	0.88967	29.8	0.99391022993851741	0.62337	0.99824	0.99698	D	ALL	.	.	.	1.04813472982168	0.97046	15.50854	0.84606486487251	0.92782	11.62988	1.0	0.98316	0.283894	0.04978	0	0.118412	0.03395	1	0.299256	0.05649	0	0.127494	0.03953	0	0.980302	0.85427	4.83	4.83	0.61880	7.879000	0.85694	7.643000	0.63297	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.320000	0.24970	0.0:1.0:0.0:0.0	18.479	0.90750	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3465.98	39	chr7	143395318	.	C	T	3465.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=1109;ExcessHet=0.0000;FS=3.061;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.97;ReadPosRankSum=2.50;SOR=0.883	GT:AD:DP:GQ:PL	0/1:180,136:316:99:3480,0,4654	20	0	1	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	0/1:97,22:119:99:.:.:248,0,2500	3	0	18	0
chr7	143573070	143573070	G	A	exonic	CTAGE15	.	nonsynonymous SNV	CTAGE15:NM_001008747:exon1:c.G1253A:p.R418K,	.	.	563	939	17	3	0	23	0.0120989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056744420348	.	.	.	.	.	.	.	.	.	.	0.004793	741	154602	rs201837429	0.0026	0.0048	0.0025	0.0026	0.0101	0.0025	0.0025	0.0077	0.0069	0.0031	0.0025	0.0017	0.0002	0.0008	0.0101	0.0026	0.0035	0.0026	0.0060	0.0093	0.0065	0.0054	0.0082	0.0056	0.0055	0.0074	0.0071	0.0082	0	0.0050	0.0017	0.0002	0.0007	0.0208	0.0065	0.0067	0.0026	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-3.53	0.00003	N	1.06	0.39781	T	.	.	.	0.042	0.01498	.	.	.	.	.	.	.	0.0073447526	0.00167	T	0.056744	0.66716	D	.	.	.	.	0.043077524339	0.03247	0.0585398963255933	0.05794	.	.	0.503640592098	0.39335	T	0.012991	0.11321	T	-0.506164	0.00528	T	-0.556194	0.16737	T	.	.	.	.	.	.	0.11095083	0.26222	0.15343034	0.36054	0.11095083	0.26222	0.15343034	0.36053	-1.239	0.01307	T	.	.	0.065	0.01909	B	.	.	-0.312293	0.02564	0.312	0.28974062985368393	0.01514	0.00064	0.00463	N	AEFI	0.017965	0.00509	N	.	.	.	.	.	.	3.99628055112574E-6	0.01202	0.074636	0.01641	0	0.084543	0.02171	0	0.078618	0.02440	0	0.057018	0.00518	0	.	.	0.109	0.109	0.13884	0.841000	0.27267	4.414000	0.43291	-0.708000	0.03965	1.000000	0.71638	1.000000	0.68203	0.018000	0.11154	.	.	.	798	0.45050	.	.	.	.	.	.	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	1386.8	35	chr7	143573070	.	G	A	1386.8	.	AC=2;AF=0.050;AN=40;DP=879;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.050;MQ=38.03;QD=28.30;SOR=1.345	GT:AD:DP:GQ:PL	1/1:0,49:49:99:1414,147,0	19	1	0	1
chr7	152181339	152181339	T	C	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon36:c.A6521G:p.Y2174C,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.001	D	1.000	D	2.28	M	-2.07	D	0.716	D	0.779	D	0.76	2.597	14.64	5.51	2.103	7.779	15.640	0.613	0.114950253418	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1291570152	6.156e-06	6.84e-06	8.167e-06	4.125e-06	2.987e-05	2.9e-06	2.1e-06	1.32e-06	9.6e-07	2.987e-05	0	0	0	1.872e-05	0	4.496e-06	1.656e-05	1.159e-05	6.581e-06	1.314e-05	0	1.348e-05	.	0	0	.	.	0	0	0	0	0	9.422e-05	0	0	0	0	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000730	0.42129	D	0.000000	0.999997	0.58761	D	3.08	0.87267	M	-2.08	0.86010	D	-6.17	0.90254	D	0.816	0.81162	0.716	0.93373	D	0.779	0.92488	D	10	0.8140197	0.80658	D	0.11495	0.79397	D	0.613	0.84879	0.185	0.09388	0.690091122468	0.68742	0.43495468076497434	0.43412	0.495590999531	0.48094	0.59093183279	0.51626	T	0.565843	0.85544	D	0.202479	0.74123	D	0.149925	0.80179	D	0.962377090918346	0.66350	D	0.947205	0.79675	D	0.6380233	0.74725	0.5481865	0.73880	0.6380233	0.74726	0.5481865	0.73880	-9.623	0.71622	D	0.7459512599296302	0.82804	0.233	0.46619	B	.;.	.;.	4.091759	0.60950	24.3	0.99256555977593341	0.57055	0.99046	0.90435	D	AEFBCI	0.886082	0.81716	D	0.705313728838601	0.79981	7.194058	0.645342435298912	0.78264	6.841361	0.999999125642824	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.51	5.51	0.81769	3.404000	0.52371	6.128000	0.53877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.946000	0.48989	0.0:0.0:0.0:1.0	15.640	0.76741	840	0.37365	.;.	.	.	.	.	.	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	1647.98	33	chr7	152181339	.	T	C	1647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.270e-01;DP=792;ExcessHet=0.0000;FS=1.601;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.85;ReadPosRankSum=-7.790e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/1:43,61:104:99:1662,0,1211	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	0/1:211,55:266:99:718,0,7040	4	0	17	0
chr8	10531314	10531314	G	A	exonic	PRSS55	.	nonsynonymous SNV	PRSS55:NM_001197020:exon3:c.G367A:p.V123M	.	.	402	1116	4	0	0	4	0.00178891	.	.	2760963	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.447	B	0.116	B	0.446	N	1.000	N	2.13	M	-2.53	D	-0.280	T	0.580	D	0.376	1.241	10.04	2.77	0.618	2.530	7.543	0.364	0.065251626172	0.0014	0.000599042	0.0010	0.0004	0.0008	0	0	0.0015	0	0.0003	0.0010996	170	154602	rs141545763	0.0014	0.0014	0.0014	0.0013	0.0028	0.0013	0.0013	0.0017	0.0015	0.0005	0.0013	0.0009	0.0003	5.625e-05	0.0028	0.0016	0.0012	0.0004	0.0010	0.0010	0.0011	0.0009	0.0017	0.0009	0.0008	0.0014	0.0013	0.0003	0	0.0012	0.0006	0	0	0	0.0017	0.0014	0.0004	0.082	0.33254	T	0.306	0.20100	T	0.447	0.36006	B	0.116	0.31939	B	0.445528	0.12573	N	0.598962	1	0.08975	N	1.615	0.41426	L	-2.53	0.89430	D	-1.24	0.42575	N	0.304	0.34336	-0.2804	0.75530	T	0.580	0.84880	D	10	0.020493835	0.00473	T	0.065252	0.69523	D	0.364	0.68407	.	.	0.440604514059	0.43682	0.6513069964869815	0.65066	0.00164746156263	0.00138	0.432235956192	0.29514	T	0.224253	0.58863	T	-0.307214	0.07996	T	-0.220544	0.52685	T	0.00787425441039068	0.00093	T	0.670533	0.27914	T	0.064563766	0.13712	0.0667603	0.13721	0.064563766	0.13711	0.0667603	0.13720	-7.222	0.55639	T	.	.	0.172	0.52565	B	.;.	.;.	2.034001	0.25852	16.91	0.94437704749893081	0.24859	0.14108	0.18227	N	AEFBI	0.102575	0.20573	N	-0.556942686977576	0.20267	1.067126	-0.638858267793219	0.18499	0.9884616	0.00213028979470996	0.09174	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.58	2.77	0.31614	1.576000	0.36113	3.625000	0.39297	-0.119000	0.14319	0.006000	0.17386	0.881000	0.27706	0.121000	0.19209	0.2055:0.0:0.7945:0.0	7.543	0.26919	889	0.27310	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin 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	1184.98	40	chr8	10531314	.	G	A	1184.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.82;DP=806;ExcessHet=0.0000;FS=2.646;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=0.376;SOR=0.454	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1199,0,1229	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|1:197,84:281:99:0|1:10609943_C_T:1929,0,6657:10609943	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|1:196,85,0:281:99:0|1:10609943_C_T:1948,0,6638,2523,6889,9412:10609943	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|1:196,85,0:281:99:0|1:10609943_C_T:1948,0,6638,2523,6889,9412:10609943	0	0	15	4
chr8	11200666	11200666	G	A	exonic	XKR6	.	nonsynonymous SNV	XKR6:NM_173683:exon1:c.C674T:p.S225F,	.	.	430	1091	1	0	0	1	0.000458085	.	.	2290166	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.371	B	0.069	B	.	.	1.000	N	0.345	N	1.56	T	-1.043	T	0.038	T	0.193	-0.457	1.883	1.41	0.070	2.222	6.409	0.041	0.124884314131	.	.	5.713e-05	0	0	0	0	0.0001	0	0	3.23e-05	5	154602	rs768684995	2.624e-05	2.736e-05	2.54e-05	2.709e-05	0.0005	1.936e-05	1.69e-05	0.0001	7.79e-05	0	3.033e-05	8.471e-05	0	0	0.0005	2.463e-05	6.879e-05	0	1.319e-05	1.314e-05	1.29e-05	1.349e-05	2.414e-05	2.19e-06	8.2e-07	.	.	2.414e-05	0	0	0	0	0	0	1.475e-05	0	0	0.032	0.47320	D	0.142	0.33330	T	0.371	0.34093	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	1.56	0.29602	T	-1.59	0.39314	N	0.197	0.21710	-1.0431	0.16383	T	0.038	0.16246	T	9	0.104088396	0.19170	T	0.124884	0.80631	D	0.041	0.10877	0.551	0.66716	0.043077524339	0.03247	0.20350435369877454	0.20267	1.31395625431	0.83289	0.878859758377	0.93806	D	0.069146	0.33636	T	-0.34681	0.04930	T	-0.550673	0.17261	T	0.0304294714731869	0.02057	T	0.450355	0.12714	T	0.112717144	0.26627	0.16106607	0.37483	0.112717144	0.26627	0.16106607	0.37482	-5.351	0.40445	T	.	.	0.170	0.51840	B	.;.	.;.	2.004462	0.25467	16.77	0.94765539852049929	0.25480	0.15796	0.19085	N	AEFDGBHCI	0.059770	0.11313	N	-0.719260395201778	0.15481	0.7805478	-0.753189210635352	0.15644	0.8238009	0.999999786126535	0.74766	0.455138	0.09556	0	0.484254	0.07192	0	0.519653	0.09787	0	0.56751	0.32155	0	.	.	3.28	1.41	0.21461	1.935000	0.39802	.	.	0.484000	0.22197	0.018000	0.19461	0.978000	0.30204	0.185000	0.21450	0.3394:0.0:0.6606:0.0	6.409	0.20883	735	0.53711	.;.	.	.	.	.	.	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	1001.98	33	chr8	11200666	.	G	A	1001.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.99;DP=769;ExcessHet=0.0000;FS=2.174;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=-1.910e-01;SOR=1.040	GT:AD:DP:GQ:PL	0/1:28,34:62:99:1016,0,758	20	0	1	0
chr8	25507698	25507698	C	A	exonic	CDCA2	.	nonsynonymous SNV	CDCA2:NM_001317906:exon14:c.C2987A:p.A996D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.0	B	0.0	B	0.772	N	1.000	N	-0.255	N	1.55	T	-1.014	T	0.027	T	0.043	0.001	4.020	-1.74	-0.532	0.146	1.687	0.017	0.00350997302275	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07116	T	0.665	0.06406	T	0.0	0.02946	B	0.0	0.01387	B	0.771791	0.06602	N	1.122040	1	0.08975	N	-1.1	0.00987	N	1.55	0.29866	T	0.65	0.02332	N	0.056	0.02759	-1.0139	0.25688	T	0.027	0.11441	T	10	0.03589636	0.01860	T	0.00351	0.07969	T	0.017	0.02790	0.094	0.01195	0.178374595973	0.17440	0.07853765550286544	0.07788	0.0597640842986	0.06645	0.230899512768	0.02035	T	0.004227	0.05373	T	-0.376337	0.03285	T	-0.778359	0.02503	T	0.0263628465617818	0.01455	T	0.363264	0.08416	T	0.07657621	0.17326	0.059044827	0.11015	0.07657621	0.17326	0.059044827	0.11015	-3.316	0.13945	T	.	.	0.097	0.16886	B	.;.	.;.	-0.368563	0.02333	0.250	0.15901556235931089	0.00406	0.00193	0.01117	N	AEFDBI	0.015035	0.00267	N	-1.52142139486142	0.01709	0.07480399	-1.48241008788782	0.02488	0.1145347	0.999957939724314	0.48110	0.706548	0.73137	0	0.724815	0.89359	0	0.719019	0.79029	0	0.741806	0.99463	0	.	.	5.96	-1.74	0.07622	0.466000	0.21731	1.039000	0.23542	-0.785000	0.03297	0.002000	0.15269	0.002000	0.18203	0.017000	0.10941	0.4581:0.1382:0.2799:0.1237	1.687	0.02672	926	0.17793	.;.	.	.	.	.	.	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	923.98	45	chr8	25507698	.	C	A	923.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.781;DP=842;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.67;ReadPosRankSum=-1.810e+00;SOR=0.580	GT:AD:DP:GQ:PL	0/1:30,33:63:99:938,0,798	20	0	1	0
chr8	27787965	27787965	G	A	exonic	ESCO2	.	nonsynonymous SNV	ESCO2:NM_001017420:exon6:c.G1094A:p.R365K,	Roberts syndrome, Autosomal recessive;SC phocomelia syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	265638	Roberts-SC_phocomelia_syndrome|not_provided|ESCO2-related_disorder|not_specified	MONDO:MONDO:0100253,MedGen:C0392475,OMIM:268300,Orphanet:3103|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.012	B	0.007	B	0.000	N	0.999	D	1.04	L	-0.12	T	-0.874	T	0.208	T	0.105	3.492	17.86	3.95	0.747	1.756	10.068	0.015	0.0335115822968	0.0022	0.000599042	0.0026	0.0003	0.0002	0	0.0077	0.0038	0.0011	0	0.0024644	381	154602	rs144288263	0.0033	0.0033	0.0033	0.0033	0.0038	0.0032	0.0032	0.0037	0.0037	0.0004	0.0003	0	0	0.0072	0.0019	0.0038	0.0026	3.479e-05	0.0026	0.0026	0.0024	0.0029	0.0039	0.0024	0.0023	0.0035	0.0033	0.0005	0.0033	0.0007	0	0	0.0093	0.0034	0.0039	0.0009	0	0.095	0.31235	T	0.256	0.23298	T	0.012	0.16265	B	0.007	0.12992	B	0.000200	0.48115	N	0.204073	0.999464	0.47157	D	2.05	0.56469	M	-0.12	0.71307	T	-0.28	0.15379	N	0.082	0.06190	-0.8742	0.50211	T	0.208	0.56730	T	10	0.0067800283	0.00154	T	0.033512	0.55030	D	0.045	0.12272	.	.	0.673433498257	0.67067	0.35661019156252577	0.35575	0.127698528255	0.14400	0.420419037342	0.27894	T	0.013004	0.11328	T	-0.443231	0.01238	T	-0.41092	0.32118	T	0.00951416074755247	0.00123	T	0.589041	0.21605	T	0.043551452	0.06808	0.054536227	0.09397	0.048670642	0.08519	0.055244915	0.09654	-1.534	0.03132	T	.	.	0.083	0.09433	B	.;.	.;.	2.328996	0.29829	18.25	0.99490032896201763	0.67403	0.80918	0.40436	D	AEFBI	0.196852	0.32380	N	-0.33446987721597	0.27847	1.531133	-0.193585273549873	0.31770	1.801177	0.748113387087198	0.23316	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.79	3.95	0.44952	1.940000	0.39851	5.159000	0.47785	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.386000	0.26469	0.1564:0.0:0.8436:0.0	10.068	0.41490	897	0.25382	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	754.98	35	chr8	27787965	.	G	A	754.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.382e+00;DP=736;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.02;ReadPosRankSum=0.919;SOR=0.676	GT:AD:DP:GQ:PL	0/1:25,33:58:99:769,0,702	20	0	1	0
chr8	30846175	30846175	G	C	exonic	TEX15	.	nonsynonymous SNV	TEX15:NM_001350162:exon8:c.C3992G:p.T1331S,	.	.	432	1075	14	1	0	16	0.00738689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.017	B	0.02	B	0.969	N	1.000	N	1.59	L	2.6	T	-0.971	T	0.022	T	0.041	1.819	12.04	0.686	0.043	0.279	3.591	0.034	0.00430006001671	0.0006	0.00119808	0.0010	0.0002	0.0018	0	0	0.0010	0.0077	0.0015	0.0009379	145	154602	rs148956340	0.0009	0.0009	0.0009	0.0010	0.0257	0.0009	0.0009	0.0223	0.0210	0.0014	0.0017	0.0003	2.521e-05	7.494e-05	0.0257	0.0007	0.0019	0.0016	0.0007	0.0007	0.0008	0.0007	0.0014	0.0006	0.0006	0.0010	0.0008	0.0003	0	0.0014	0.0009	0	0	0.0272	0.0008	0.0014	0.0014	0.012	0.54683	D	0.367	0.16619	T	0.017	0.17573	B	0.02	0.19048	B	0.969475	0.08169	N	0.984900	1	0.08975	N	0.75	0.19020	N	2.6	0.13204	T	-2.21	0.49684	N	0.078	0.05287	-0.9705	0.37094	T	0.022	0.09375	T	10	0.0069624484	0.00158	T	0.004	0.10435	T	0.034	0.08419	0.101	0.01536	0.232513804876	0.22884	0.02436997999316571	0.02387	0.031116089979	0.03224	0.26239168644	0.05178	T	0.112461	0.42875	T	-0.682087	0.00047	T	-0.782626	0.02375	T	0.00805885759368652	0.00096	T	0.448055	0.12582	T	0.09251131	0.21705	0.07791164	0.17400	0.09311825	0.21862	0.11880648	0.28677	-2.212	0.04098	T	.	.	0.119	0.24498	B	.;.;.	.;.;.	0.244736	0.06247	2.699	0.88854688603630216	0.18310	0.03914	0.09299	N	AEFBI	0.064256	0.12468	N	-0.796251217696092	0.13407	0.6602592	-0.836557450213571	0.13611	0.7070276	0.988882934110638	0.31658	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.550183	0.17644	0	.	.	5.62	0.686	0.17179	0.306000	0.19030	1.040000	0.23550	0.618000	0.50648	0.000000	0.06391	0.000000	0.08366	0.048000	0.15020	0.3558:0.0:0.4764:0.1678	3.591	0.07537	736	0.53558	.;.;.	.	.	.	.	.	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	2557.98	99	chr8	30846175	.	G	C	2557.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.07;DP=1178;ExcessHet=0.0000;FS=7.315;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-1.732e+00;SOR=0.648	GT:AD:DP:GQ:PL	0/1:88,97:185:99:2572,0,2424	20	0	1	0
chr8	36922624	36922624	G	A	exonic	KCNU1	.	nonsynonymous SNV	KCNU1:NM_001031836:exon24:c.G2731A:p.A911T,	.	.	431	1085	6	0	0	6	0.00275735	.	.	736637	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.976	D	0.023	U	1.000	D	1.6	L	1.48	T	-0.930	T	0.147	T	0.539	4.443	23.7	5.42	2.543	3.296	11.826	0.185	0.0136418166909	0.0013	0.000199681	0.0014	0	0.0008	0.0001	0	0.0023	0.0034	0.0005	0.0013066	202	154602	rs189989959	0.0010	0.0010	0.0010	0.0010	0.0113	0.0010	0.0009	0.0091	0.0083	0.0003	0.0012	0.0272	5.044e-05	0	0.0113	0.0004	0.0023	0.0006	0.0010	0.0010	0.0010	0.0010	0.0009	0.0009	0.0008	0.0006	0.0004	4.818e-05	0.0011	0.0009	0.0268	0	0	0.0068	0.0005	0.0009	0.0004	0.001	0.78490	D	0.008	0.67890	D	1.0	0.90584	D	0.976	0.73562	D	0.023245	0.26477	U	0.247728	0.726725	0.29869	N	2.42	0.70002	M	1.48	0.31731	T	-0.97	0.25770	N	0.588	0.60833	-0.9305	0.44066	T	0.147	0.47129	T	10	0.012706041	0.00272	T	0.013642	0.33196	T	0.185	0.45933	.	.	0.65198356138	0.64908	0.317710406878158	0.31684	0.161037688704	0.18175	0.523856461048	0.42169	T	0.111198	0.42651	T	-0.352998	0.04542	T	-0.330274	0.41438	T	0.0598396287553804	0.07144	T	0.79972	0.44511	T	0.4521955	0.64180	0.20115393	0.44081	0.4521955	0.64181	0.20115393	0.44080	-6.59	0.50976	T	.	.	0.301	0.53103	B	.	.	4.533905	0.71201	25.6	0.99903789056643533	0.97502	0.82760	0.41945	D	AEFBI	0.302635	0.41082	N	0.653006896869575	0.76564	6.50971	0.64970629676235	0.78588	6.906721	0.0243108533231629	0.13569	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	3.353000	0.51962	11.449000	0.92791	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8253:0.1747	11.826	0.51543	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	0	0	0	0	0.02381	709.98	33	chr8	36922624	.	G	A	709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.711e+00;DP=717;ExcessHet=0.0000;FS=1.131;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.92;ReadPosRankSum=-8.140e-01;SOR=0.507	GT:AD:DP:GQ:PL	0/1:23,28:51:99:724,0,680	20	0	1	0
chr8	38138853	38138853	C	T	exonic	ASH2L	.	nonsynonymous SNV	ASH2L:NM_001261832:exon14:c.C1376T:p.P459L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.997	D	0.000	D	1.000	D	2.48	M	-0.51	T	0.574	D	0.746	D	0.783	5.553	35	5.77	2.729	7.380	19.986	0.747	0.0966602024245	.	.	4.942e-05	0	0	0	0	5.994e-05	0	0.0001	4.53e-05	7	154602	rs779895776	3.01e-05	3.078e-05	2.586e-05	3.438e-05	0.0002	2.282e-05	2.032e-05	2.285e-05	2.022e-05	0	4.472e-05	0	0	0	0.0002	3.148e-05	4.967e-05	3.478e-05	1.972e-05	1.97e-05	2.571e-05	1.346e-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	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.58	0.75369	M	-0.51	0.82806	T	-6.9	0.93764	D	0.936	0.94432	0.574	0.91551	D	0.746	0.91330	D	10	0.87495184	0.86780	D	0.09666	0.76640	D	0.747	0.91285	0.562	0.68229	0.793944711092	0.79203	0.9373489816719375	0.93714	1.14742869639	0.79103	0.614924073219	0.55011	T	0.709047	0.91686	D	0.134638	0.67811	D	0.158276	0.80701	D	0.683737884787415	0.39959	D	0.976302	0.94316	D	0.76884884	0.81979	0.72353107	0.83672	0.76884884	0.81980	0.72353107	0.83673	-10.348	0.75969	D	0.4005949444299645	0.49245	0.624	0.70073	P	.;.;.;.	.;.;.;.	5.437502	0.90896	32	0.99881432576916318	0.95733	0.97822	0.77388	D	AEFGBCI	0.901549	0.84837	D	0.898371540815056	0.91678	11.00766	0.876517977920586	0.94465	12.78289	0.999999999999994	0.74766	0.75658	0.98901	0	0.724815	0.89359	0	0.724815	0.87919	0	0.656636	0.63459	0	.	.	5.77	5.77	0.91077	7.464000	0.79911	7.654000	0.63860	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.159000	0.20615	0.0:1.0:0.0:0.0	19.986	0.97352	130	0.94779	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	2041.98	34	chr8	38138853	.	C	T	2041.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.926;DP=873;ExcessHet=0.0000;FS=0.584;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.30;ReadPosRankSum=0.499;SOR=0.766	GT:AD:DP:GQ:PL	0/1:85,81:166:99:2056,0,2179	20	0	1	0
chr8	39949226	39949226	A	G	exonic	IDO2	.	nonsynonymous SNV	IDO2:NM_194294:exon2:c.A100G:p.I34V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	P	0.203	B	0.001	D	0.989	N	0.555	N	1.29	T	-1.057	T	0.051	T	0.376	0.917	8.733	4.92	2.062	2.584	10.900	0.136	0.00522952842637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs964439517	6.197e-06	6.156e-06	8.21e-06	4.159e-06	2.997e-05	2.92e-06	2.11e-06	3.94e-06	1.48e-06	2.997e-05	0	0	0	0	0	5.42e-06	0	2.374e-05	6.569e-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	0.25	0.17126	T	0.455	0.12776	T	.	.	.	.	.	.	0.000654	0.42656	D	0.153885	0.98861	0.24391	N	.	.	.	1.29	0.35775	T	-0.64	0.20145	N	0.358	0.39962	-1.0574	0.12414	T	0.051	0.21533	T	9	0.31012726	0.48493	T	0.00523	0.13341	T	0.136	0.36778	0.706	0.84236	0.126345400529	0.12197	0.12616596250318077	0.12542	0.0161916664348	0.01549	0.458727389574	0.33135	T	0.004533	0.03938	T	-0.187128	0.22680	T	-0.401287	0.33233	T	0.319706112146378	0.25810	T	0.785321	0.42297	T	0.05873921	0.11853	0.057115026	0.10324	0.05873921	0.11853	0.057115026	0.10324	-4.985	0.36677	T	.	.	0.098	0.23360	B	.;.	.;.	1.287255	0.16875	12.82	0.9664264752789119	0.30560	0.89033	0.49261	D	AEFGBI	0.467120	0.51448	N	-0.0113721017053059	0.41340	2.47101	0.0764070875058317	0.43364	2.63976	0.999843505843676	0.43971	0.615755	0.39536	0	0.618376	0.53248	0	0.468601	0.07175	0	0.530356	0.10902	0	.	.	4.92	4.92	0.64147	3.847000	0.55604	4.439000	0.43379	0.746000	0.86710	1.000000	0.71638	1.000000	0.68203	0.718000	0.34707	1.0:0.0:0.0:0.0	10.900	0.46252	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	0	0	0	0	0.02381	1266.98	35	chr8	39949226	.	A	G	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.360e-01;DP=798;ExcessHet=0.0000;FS=0.729;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=0.083;SOR=0.581	GT:AD:DP:GQ:PL	0/1:50,55:105:99:1281,0,1183	20	0	1	0
chr8	67299229	67299229	C	T	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon4:c.G439A:p.V147I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.998	D	0.995	D	0.000	D	1.000	D	1.315	L	1.82	T	-1.059	T	0.129	T	0.464	5.167	32	5.15	2.555	7.776	19.003	0.244	0.00485664365008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.43708	D	0.144	0.33109	T	0.998	0.73220	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	0.999944	0.51968	D	1.42	0.35681	L	1.82	0.25018	T	-0.83	0.22727	N	0.47	0.50598	-1.0588	0.12058	T	0.129	0.43867	T	10	0.44255733	0.58194	T	0.004857	0.12192	T	0.244	0.55061	0.419	0.46036	0.344740032716	0.34089	0.46458263451071363	0.46377	0.432702769526	0.43444	0.796535730362	0.81436	T	0.173112	0.52185	T	-0.0537433	0.43877	T	-0.314975	0.43122	T	0.922568202018738	0.58277	D	0.989121	0.96387	D	0.31868398	0.54528	0.16852483	0.38818	0.31868398	0.54528	0.16852483	0.38817	-7.853	0.60064	D	.	.	0.089	0.12276	B	.	.	4.127652	0.61742	24.4	0.99858364901069363	0.93729	0.99671	0.98530	D	AEFBI	0.844558	0.76151	D	0.691477747293272	0.79072	7.001596	0.703445623715783	0.82640	7.817407	0.999999999999729	0.74766	0.732398	0.92422	0	0.708844	0.79440	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.15	5.15	0.70287	7.905000	0.86479	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.003	0.92819	440	0.80101	Mon2, dimerisation and cyclophilin-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	0.125	64.79	34	chr8	67299229	.	C	T	64.79	.	AC=4;AF=0.125;AN=32;BaseQRankSum=-1.020e+00;DP=397;ExcessHet=0.8031;FS=237.740;InbreedingCoeff=-0.1202;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.06;ReadPosRankSum=-4.370e-01;SOR=8.497	GT:AD:DP:GQ:PL	0/1:10,5:15:7:7,0,149	12	0	4	5
chr8	67483807	67483807	C	T	exonic	CPA6	.	nonsynonymous SNV	CPA6:NM_020361:exon8:c.G799A:p.G267R,	Epilepsy, familial temporal lobe, 5, Autosomal dominant;Febrile seizures, familial, 11, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	265506	Familial_temporal_lobe_epilepsy_5|Febrile_seizures,_familial,_11|Global_developmental_delay|CPA6-related_disorder|not_provided|Confusion|Focal-onset_seizure|Palpitations|Irregular_menstruation|Abnormal_emotional_state|Periventricular_heterotopia|Seizure|Childhood_epilepsy_with_centrotemporal_spikes	MONDO:MONDO:0013741,MedGen:C3280730,OMIM:614417|MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418|Human_Phenotype_Ontology:HP:0000754,Human_Phenotype_Ontology:HP:0001255,Human_Phenotype_Ontology:HP:0001263,Human_Phenotype_Ontology:HP:0001277,Human_Phenotype_Ontology:HP:0001292,Human_Phenotype_Ontology:HP:0002433,Human_Phenotype_Ontology:HP:0002473,Human_Phenotype_Ontology:HP:0002532,Human_Phenotype_Ontology:HP:0006793,Human_Phenotype_Ontology:HP:0006867,Human_Phenotype_Ontology:HP:0006885,Human_Phenotype_Ontology:HP:0006935,Human_Phenotype_Ontology:HP:0007005,Human_Phenotype_Ontology:HP:0007094,Human_Phenotype_Ontology:HP:0007106,Human_Phenotype_Ontology:HP:0007174,Human_Phenotype_Ontology:HP:0007224,Human_Phenotype_Ontology:HP:0007228,Human_Phenotype_Ontology:HP:0007342,Human_Phenotype_Ontology:HP:0025356,MedGen:C0557874|.|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000731,Human_Phenotype_Ontology:HP:0001289,MedGen:C0009676|Human_Phenotype_Ontology:HP:0002358,Human_Phenotype_Ontology:HP:0007359,MedGen:C0751495|Human_Phenotype_Ontology:HP:0001962,MedGen:C0030252|Human_Phenotype_Ontology:HP:0000858,MedGen:C0156404|Human_Phenotype_Ontology:HP:0100851,MedGen:C4020949|Human_Phenotype_Ontology:HP:0002272,Human_Phenotype_Ontology:HP:0007165,MedGen:C5399973|Human_Phenotype_Ontology:HP:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	4.22	H	1.97	T	0.432	D	0.533	D	0.988	5.016	29.6	5.18	2.567	7.071	17.836	0.725	0.252068408815	0.0032	0.00139776	0.0021	0.0038	0.0018	0	0.0002	0.0028	0.0066	0.0001	0.0021086	326	154602	rs61738009	0.0029	0.0029	0.0030	0.0028	0.0034	0.0028	0.0028	0.0033	0.0033	0.0033	0.0025	0	0	0.0002	0.0033	0.0034	0.0028	0.0002	0.0025	0.0025	0.0028	0.0022	0.0032	0.0023	0.0022	0.0028	0.0027	0.0032	0	0.0014	0	0.0002	9.414e-05	0	0.0031	0.0047	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	0.053233	1	0.81001	D	4.055	0.97073	H	0.59	0.53943	T	-7.56	0.95216	D	0.993	0.99863	0.432	0.89566	D	0.533	0.82704	D	10	0.13679942	0.26025	T	0.252068	0.89157	D	0.725	0.90324	0.878	0.96734	0.861870208621	0.86053	0.960238203642367	0.96009	0.25006603729	0.27585	0.679282546043	0.64166	T	0.205276	0.56428	T	0.023973	0.54916	T	0.260186	0.86099	D	0.162356426692107	0.18043	T	0.931907	0.74605	D	0.94777673	0.96039	0.95916945	0.98926	0.94777673	0.96040	0.95916945	0.98927	-13.193	0.90141	D	0.8711783554657455	0.93183	0.987	0.92633	P	.	.	5.286792	0.88766	29.7	0.99936485934862673	0.99621	0.96562	0.69761	D	AEFBI	0.874928	0.79807	D	1.0291666116735	0.96572	14.86257	0.91802455739627	0.96310	14.54442	0.999999600216836	0.74766	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.18	5.18	0.71140	7.472000	0.79998	.	.	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:1.0:0.0:0.0	17.836	0.88608	69	0.97055	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1558.98	35	chr8	67483807	.	C	T	1558.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.904e+00;DP=831;ExcessHet=0.0000;FS=0.609;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.46;ReadPosRankSum=0.164;SOR=0.798	GT:AD:DP:GQ:PL	0/1:81,68:149:99:1573,0,2120	20	0	1	0
chr8	67506878	67506878	C	T	exonic	CPA6	.	nonsynonymous SNV	CPA6:NM_020361:exon6:c.G545A:p.R182Q,	Epilepsy, familial temporal lobe, 5, Autosomal dominant;Febrile seizures, familial, 11, Autosomal recessive	YES	0	1521	1	0	0	1	0.000328623	.	.	1358728	not_provided|Febrile_seizures,_familial,_11	MedGen:C3661900|MONDO:MONDO:0024566,MedGen:C3280734,OMIM:614418	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.26	T	0.994	D	0.653	P	0.012	N	0.987	D	0.585	N	3.99	T	-1.116	T	0.065	T	0.333	2.392	13.96	4.06	0.835	1.764	11.046	0.041	0.0115165739181	.	.	1.653e-05	0	0	0	0	1.502e-05	0	6.069e-05	1.29e-05	2	154602	rs765453517	1.301e-05	1.368e-05	1.09e-05	1.514e-05	3.48e-05	8.32e-06	6.71e-06	9.24e-06	5.03e-06	2.992e-05	0	3.831e-05	0	0	0	1.17e-05	1.657e-05	3.48e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.412e-05	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	1.47e-05	0	0	0.18	0.21968	T	0.529	0.10138	T	0.827	0.45966	P	0.243	0.38752	B	0.011585	0.29474	N	0.349450	0.987217	0.40554	D	0.605	0.15622	N	1.57	0.29342	T	0.14	0.05405	N	0.442	0.48042	-1.1162	0.02587	T	0.065	0.26983	T	10	0.15828928	0.29770	T	0.011517	0.29227	T	0.041	0.10877	0.394	0.41935	0.319402600006	0.31557	0.7036808845895597	0.70309	0.128929971286	0.14537	0.363084614277	0.19835	T	0.003963	0.03373	T	-0.317158	0.07132	T	-0.490698	0.23318	T	0.748839914798737	0.43221	D	0.89931	0.64723	D	0.07982647	0.18259	0.07528672	0.16560	0.07982647	0.18259	0.07528672	0.16560	-5.595	0.42746	T	0.2348830541090687	0.31801	0.101	0.17445	B	.	.	2.470351	0.31840	18.86	0.99667851625899584	0.78394	0.85518	0.44659	D	AEFDGBI	0.194976	0.32203	N	0.0768730149753547	0.45387	2.795984	0.138139695088751	0.46517	2.896401	0.999999646039494	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.491513	0.07944	0	0.530356	0.10902	0	.	.	5.2	4.06	0.46572	1.652000	0.36929	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.8848:0.0:0.1152	11.046	0.47074	67	0.97183	Peptidase M14, carboxypeptidase A|Peptidase M14, carboxypeptidase A|Carboxypeptidase A6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2249.98	34	chr8	67506878	.	C	T	2249.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=882;ExcessHet=0.0000;FS=4.256;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=0.330;SOR=0.459	GT:AD:DP:GQ:PL	0/1:94,89:183:99:2264,0,2262	20	0	1	0
chr8	72568126	72568126	T	C	exonic	KCNB2	.	nonsynonymous SNV	KCNB2:NM_004770:exon2:c.T392C:p.I131T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.93	D	.	.	1.000	D	-0.24	N	-0.97	T	-0.279	T	0.333	T	0.896	4.370	23.1	6.07	2.326	8.040	16.314	0.592	0.0551649391622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.005	0.72224	D	0.982	0.60036	D	0.93	0.66466	D	.	.	.	.	0.999995	0.58761	D	0.205	0.09354	N	-0.97	0.75670	T	-3.55	0.68764	D	0.86	0.85660	-0.2786	0.75579	T	0.333	0.70026	T	9	0.8193847	0.81153	D	0.055165	0.66132	D	0.592	0.83747	0.427	0.47350	0.909612759745	0.90871	0.76148700511481	0.76096	1.25690945348	0.81934	0.951684474945	0.99785	D	0.641842	0.89027	D	0.318427	0.84359	D	0.219622	0.84156	D	0.924446704382473	0.58562	D	0.920608	0.71304	D	0.28000912	0.51049	0.35322383	0.60888	0.28000912	0.51049	0.35322383	0.60887	-4.84	0.35053	T	.	.	0.998	0.97009	P	.	.	4.856204	0.79421	27.1	0.99855413978733831	0.93458	0.98167	0.80181	D	AEFI	0.921860	0.89597	D	0.53268574687625	0.69034	5.300113	0.635276251618612	0.77519	6.694933	0.999989729781648	0.51787	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	6.07	6.07	0.98675	8.017000	0.88732	7.844000	0.70656	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	16.314	0.82741	953	0.10115	Potassium channel tetramerisation-type BTB domain|BTB/POZ 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	0.04762	66.1	41	chr8	72568126	.	T	C	66.1	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.396e+00;DP=1116;ExcessHet=0.1072;FS=113.325;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.31;ReadPosRankSum=1.16;SOR=6.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:102,21:123:41:.:.:41,0,2605	19	0	2	0
chr8	80487771	80487771	G	A	exonic	ZBTB10	.	nonsynonymous SNV	ZBTB10:NM_001105539:exon1:c.G961A:p.A321T	.	.	426	1090	6	0	0	6	0.00274474	.	.	2286256	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.02	D	0.465	P	0.085	B	0.002	N	1.000	D	0	N	2.83	T	-0.980	T	0.013	T	0.193	3.834	19.47	3.07	2.331	2.315	7.882	0.046	0.023083819208	0.0003	.	0.0004	0	0.0003	0	0	0.0006	0.0012	0.0002	0.0003428	53	154602	rs199498627	0.0003	0.0003	0.0003	0.0003	0.0035	0.0003	0.0002	0.0023	0.0020	6.079e-05	0.0005	0.0002	0	1.925e-05	0.0035	0.0003	0.0004	0.0001	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	2.408e-05	0	0.0003	0.0003	0	0	0.0034	0.0003	0	0	0.012	0.54683	D	0.12	0.35970	T	0.335	0.36447	B	0.039	0.29395	B	0.001635	0.38439	N	0.163511	0.963535	0.81001	D	0.895	0.22405	L	2.83	0.10771	T	-0.62	0.18248	N	0.133	0.18784	-0.9799	0.35025	T	0.013	0.04890	T	10	0.041588217	0.02828	T	0.023084	0.46030	T	0.046	0.12618	.	.	0.043077524339	0.03247	0.2678751814368218	0.26700	0.758373678255	0.64123	0.564892530441	0.47957	T	0.005771	0.05219	T	-0.460695	0.00973	T	-0.550102	0.17317	T	0.0412415952465101	0.03916	T	0.792121	0.46038	T	0.10225128	0.24160	0.16520828	0.38232	0.10225128	0.24160	0.16520828	0.38231	-3.713	0.19614	T	.	.	0.079	0.09530	B	.;.;.;.	.;.;.;.	3.513660	0.49220	22.7	0.99791807356341966	0.87750	0.79537	0.39432	D	AEFDBHCIJ	0.340273	0.43714	N	-0.0854991625437668	0.38028	2.221082	0.0764692463747094	0.43367	2.640003	0.999999861100274	0.74766	0.766844	0.99359	0	0.748881	0.99253	0	0.851219	0.99655	0	0.665054	0.64577	0	.	.	5.04	3.07	0.34476	2.474000	0.44812	6.997000	0.57182	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.3989:0.4589:0.1421	7.882	0.28790	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	0	0	0	0	0.02381	1713.98	41	chr8	80487771	.	G	A	1713.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.560e-01;DP=882;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.08;ReadPosRankSum=0.864;SOR=0.910	GT:AD:DP:GQ:PL	0/1:64,67:131:99:1728,0,1622	20	0	1	0
chr8	94789792	94789792	G	A	exonic	DPY19L4	.	nonsynonymous SNV	DPY19L4:NM_181787:exon19:c.G2054A:p.R685Q,	.	.	472	1048	2	0	0	2	0.000953289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.6	P	0.066	B	0.000	N	1.000	D	2.305	M	0.53	T	-0.756	T	0.171	T	0.492	4.176	21.6	5.2	2.563	8.781	19.103	0.253	0.0186287246902	7.7e-05	0.000798722	0.0005	0	0.0002	0	0.0015	6.005e-05	0.0011	0.0025	0.0004075	63	154602	rs149041883	0.0003	0.0003	0.0002	0.0003	0.0024	0.0002	0.0002	0.0021	0.0020	0	0	0	0.0001	0.0021	0.0011	4.232e-05	0.0002	0.0024	0.0002	0.0002	0.0001	0.0003	0.0019	0.0002	0.0001	0.0010	0.0007	0	0	0	0	0	0.0020	0	2.943e-05	0	0.0019	0.0	0.91255	D	0.0	0.92824	D	0.6	0.39325	P	0.066	0.27432	B	0.000004	0.62929	N	0.060745	0.999973	0.53665	D	2.725	0.79712	M	0.53	0.55090	T	-2.17	0.49018	N	0.689	0.69474	-0.7560	0.57620	T	0.171	0.51213	T	10	0.034176975	0.01617	T	0.018629	0.40756	T	0.253	0.56294	.	.	0.477143196806	0.47344	0.7999606589087452	0.79950	0.275151034729	0.29997	0.532268285751	0.43354	T	0.028067	0.20413	T	-0.277251	0.10962	T	-0.177195	0.56782	T	0.207616881568724	0.20828	T	0.968103	0.88413	D	0.5326863	0.68983	0.51090944	0.71737	0.5326863	0.68984	0.51090944	0.71738	-6.532	0.50533	T	.	.	0.592	0.68566	P	.	.	4.720684	0.75937	26.4	0.99861628278904013	0.94002	0.98935	0.88849	D	AEFBI	0.827524	0.74680	D	0.439973514006127	0.63636	4.601279	0.529608548729441	0.69993	5.440022	0.999999893748646	0.74766	0.706548	0.73137	0	0.670034	0.63936	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	8.872000	0.91982	9.840000	0.81918	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.103	0.93264	407	0.82314	.	.	.	.	.	.	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	1257.98	33	chr8	94789792	.	G	A	1257.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=798;ExcessHet=0.0000;FS=1.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.142;SOR=0.883	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1272,0,1265	20	0	1	0
chr8	96785313	96785313	T	C	exonic	CPQ	.	nonsynonymous SNV	CPQ:NM_016134:exon2:c.T416C:p.I139T,	.	.	428	1093	1	0	0	1	0.000457247	.	.	2697357	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.59	T	0.126	B	0.058	B	0.000	N	0.714	D	1.98	M	0.94	T	-0.902	T	0.119	T	0.268	1.181	9.804	4.19	0.968	5.713	11.447	0.131	0.0277897275645	.	.	5.18e-05	0.0001	0	0.0002	0	4.616e-05	0	0	3.88e-05	6	154602	rs751928165	3.506e-05	3.557e-05	3.553e-05	3.458e-05	0.0007	2.71e-05	2.45e-05	0.0002	0.0001	6.029e-05	9.113e-05	0	7.594e-05	0	0.0007	3.069e-05	0	4.663e-05	9.2e-05	9.193e-05	0.0001	6.726e-05	0.0005	5.528e-05	4.365e-05	0.0002	0.0002	2.413e-05	0	0.0005	0	0	0	0	8.821e-05	0	0	0.051	0.39334	T	0.059	0.45961	T	0.015	0.17086	B	0.04	0.23831	B	0.000296	0.46274	N	0.190597	0.714402	0.33551	D	2.92	0.84325	M	0.94	0.47130	T	-3.16	0.69118	D	0.475	0.51048	-0.9019	0.47792	T	0.119	0.41691	T	10	0.14677033	0.27821	T	0.02779	0.50556	D	0.131	0.35738	.	.	0.44898880988	0.44520	0.6868552556588416	0.68625	0.162086030771	0.18288	0.457745730877	0.33001	T	0.05795	0.39923	T	-0.327526	0.06300	T	-0.407921	0.32465	T	0.125634935451508	0.14972	T	0.953805	0.82399	D	0.12236945	0.28758	0.11085733	0.26734	0.12236945	0.28758	0.11085733	0.26734	-8.231	0.62633	D	.	.	0.065	0.01934	B	.;.	.;.	2.704177	0.35333	19.87	0.91398022004697488	0.20664	0.98587	0.84406	D	AEFI	0.759046	0.69750	D	-0.334253624773588	0.27855	1.53164	-0.21270278916179	0.31078	1.755564	0.998491563996648	0.37071	0.638212	0.43195	0	0.588015	0.36545	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.35	4.19	0.48645	5.706000	0.68016	1.547000	0.27267	-0.787000	0.03278	1.000000	0.71638	0.010000	0.20010	0.574000	0.30748	0.0:0.0712:0.0:0.9288	11.447	0.49376	910	0.22284	.;.	.	.	.	.	.	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	1046.98	34	chr8	96785313	.	T	C	1046.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=768;ExcessHet=0.0000;FS=6.956;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.63;ReadPosRankSum=-1.113e+00;SOR=1.646	GT:AD:DP:GQ:PL	0/1:31,36:67:99:1061,0,822	20	0	1	0
chr8	97277784	97277784	C	A	exonic	TSPYL5	.	nonsynonymous SNV	TSPYL5:NM_033512:exon1:c.G61T:p.A21S,	.	.	423	1096	3	0	0	3	0.00136674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.332	B	0.073	B	0.172	N	1.000	N	0.145	N	2.14	T	-1.021	T	0.021	T	0.121	3.021	16.08	1.76	0.482	2.221	4.439	0.014	0.0116550159914	0.0022	0.00139776	0.0036	0.0010	0.0002	0	0.0006	0.0059	0.0019	0.0011	0.0026196	405	154602	rs79679520	0.0031	0.0030	0.0031	0.0030	0.0034	0.0030	0.0030	0.0033	0.0033	0.0006	0.0010	0.0090	0	0.0007	0.0033	0.0034	0.0030	0.0009	0.0019	0.0019	0.0021	0.0017	0.0030	0.0017	0.0016	0.0026	0.0025	0.0003	0	0.0019	0.0084	0	0.0005	0.0034	0.0030	0.0019	0.0006	0.015	0.52492	D	0.129	0.34837	T	0.332	0.33274	B	0.073	0.28123	B	0.172400	0.17337	N	0.423150	0.999614	0.20864	N	1.81	0.47622	L	2.14	0.19450	T	-0.51	0.15986	N	0.089	0.06720	-1.0210	0.23389	T	0.021	0.08963	T	10	0.0030022264	0.00049	T	0.011655	0.29486	T	0.014	0.01968	.	.	0.043077524339	0.03247	0.05926980246525203	0.05866	0.547968560912	0.51759	0.801004648209	0.82115	T	0.003461	0.02869	T	-0.571565	0.00217	T	-0.593798	0.13339	T	0.0120733095741057	0.00191	T	0.517348	0.16736	T	0.061813265	0.12843	0.05319737	0.08915	0.061813265	0.12843	0.05319737	0.08914	-4.018	0.24072	T	.	.	0.085	0.10062	B	.	.	2.946349	0.39190	20.9	0.98280294863242912	0.39852	0.63798	0.32202	D	AEFDBHCI	0.081295	0.16448	N	-0.479533344725586	0.22752	1.217109	-0.414135758995297	0.24581	1.346916	0.999999999360575	0.74766	0.65757	0.49021	0	0.484254	0.07192	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	3.6	1.76	0.23776	1.532000	0.35634	2.044000	0.30313	0.596000	0.33519	0.014000	0.18986	0.970000	0.29701	0.995000	0.73285	0.2196:0.663:0.0:0.1173	4.439	0.10990	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	890.98	39	chr8	97277784	.	C	A	890.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.68;ReadPosRankSum=1.54;SOR=0.627	GT:AD:DP:GQ:PL	0/1:55,37:92:99:905,0,1286	20	0	1	0
chr8	99431657	99431657	C	T	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon22:c.C3203T:p.T1068I	Cohen syndrome, Autosomal recessive	.	26	1388	99	9	0	117	0.0404424	.	.	101741	Cohen_syndrome|not_provided|not_specified|Inborn_genetic_diseases	MONDO:MONDO:0008999,MedGen:C0265223,OMIM:216550,Orphanet:193|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.52	T	0.998	D	0.994	D	0.000	D	1.000	D	0.695	N	0.86	T	-0.947	T	0.132	T	0.689	1.646	11.46	4.41	2.154	6.920	17.362	0.132	.	0.0072	0.0109824	0.0109	0.0008	0.0044	0	0.0148	0.0091	0.0111	0.0327	0.0100322	1551	154602	rs61753722	0.0095	0.0097	0.0086	0.0103	0.0343	0.0093	0.0093	0.0333	0.0329	0.0011	0.0047	0.0094	5.062e-05	0.0137	0.0169	0.0080	0.0105	0.0343	0.0079	0.0079	0.0073	0.0085	0.0369	0.0075	0.0074	0.0325	0.0308	0.0015	0	0.0097	0.0089	0	0.0144	0.0068	0.0090	0.0080	0.0369	0.512	0.07449	T	0.032	0.53426	D	0.986	0.73220	D	0.675	0.82059	P	0.000061	0.52346	D	0.119576	0.999974	0.53665	D	1.845	0.48678	L	0.86	0.46777	T	-0.17	0.09627	N	0.86	0.85660	-0.9469	0.41498	T	0.132	0.44445	T	10	0.006599039	0.00149	T	.	.	.	0.132	0.35948	.	.	.	.	0.6800081458423057	0.67939	0.418471938286	0.42436	0.671483159065	0.63049	T	0.064541	0.32460	T	-0.311535	0.07613	T	-0.1959	0.55035	T	0.0222896284915635	0.00942	T	0.922608	0.71859	D	0.13754597	0.31844	0.10258712	0.24592	0.16026063	0.35954	0.10172261	0.24361	-10.128	0.74675	D	0.7176318254602767	0.79844	0.43	0.61192	A	.;.	.;.	4.525006	0.70989	25.6	0.96223474640519524	0.29094	0.97800	0.77226	D	AEFBI	0.729958	0.67750	D	0.276721938933293	0.54972	3.661602	0.347429162778259	0.58353	4.005328	0.995571819947056	0.34201	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.645948	0.59608	0	.	.	4.41	4.41	0.52588	6.999000	0.76039	5.963000	0.51859	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.362	0.87243	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	1	0	0	0	0	1	0	0.02381	675.98	36	chr8	99431657	.	C	T	675.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.205e+00;DP=754;ExcessHet=0.0000;FS=1.053;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.501;SOR=0.489	GT:AD:DP:GQ:PL	0/1:29,30:59:99:690,0,781	20	0	1	0
chr8	99818741	99818741	G	A	exonic	VPS13B	.	nonsynonymous SNV	VPS13B:NM_017890:exon47:c.G8549A:p.R2850K	Cohen syndrome, Autosomal recessive	.	1	1516	4	1	0	6	0.00197498	.	.	2796310	VPS13B-related_disorder	.	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	0.003	B	0.005	B	0.003	N	1.000	D	0.55	N	-0.7	T	-0.958	T	0.197	T	0.158	2.031	12.75	3.87	0.357	3.866	15.036	0.133	0.0112950440421	.	.	2.484e-05	9.815e-05	0	0	0	1.504e-05	0	6.064e-05	1.94e-05	3	154602	rs751906148	2.531e-05	2.531e-05	2.042e-05	3.026e-05	0.0002	1.868e-05	1.631e-05	0.0001	0.0001	2.988e-05	0	0	0	0	0.0002	1.529e-05	1.656e-05	0.0002	1.973e-05	1.97e-05	1.285e-05	2.693e-05	6.551e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.94e-05	0	0	0.454	0.09374	T	0.165	0.30926	T	0.003	0.11197	B	0.005	0.11217	B	0.002934	0.35704	N	0.285632	1	0.81001	D	1.725	0.44537	L	-0.7	0.72785	T	-1.13	0.29114	N	0.336	0.37717	-0.9577	0.39608	T	0.197	0.55201	T	10	0.1328797	0.25290	T	0.011295	0.28764	T	0.133	0.36157	0.522	0.62518	0.323886383625	0.31992	0.6874307471890634	0.68683	0.144044623495	0.16265	0.574445009232	0.49304	T	0.129786	0.45828	T	-0.2903	0.09606	T	-0.362624	0.37748	T	0.0451285131275654	0.04626	T	0.688231	0.29741	T	0.12239979	0.28764	0.096000284	0.22791	0.12239979	0.28764	0.096000284	0.22790	-3.509	0.16557	T	0.6273360532597373	0.69633	0.135	0.29283	B	.;.	.;.	3.190670	0.43345	21.7	0.93897413250219297	0.23925	0.91974	0.54667	D	AEFBHCI	0.482001	0.52305	N	-0.573175351434658	0.19762	1.03686	-0.363022705320634	0.26109	1.440057	0.102837951628802	0.16428	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.66	3.87	0.43823	3.959000	0.56451	7.659000	0.64126	-0.104000	0.15758	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1287:0.0:0.8713:0.0	15.036	0.71411	475	0.77788	.;.	.	.	.	.	.	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	1025.98	35	chr8	99818741	.	G	A	1025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.39;DP=800;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.07;ReadPosRankSum=-7.620e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:48,37:85:99:1040,0,1321	20	0	1	0
chr8	102560795	102560803	AGCCCCTGC	0	exonic	ODF1	.	.	.	.	.	430	603	23	0	466	489	0.0187144	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560795	.	AGCCCCTGC	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-7.460e-01;DP=2088;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=1.05;SOR=1.000	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:93,0,48:141:99:1|0:102560764_C_G:1839,2066,6115,0,3925,3747:102560764	11	0	1	1
chr8	102560798	102560798	C	0	exonic	ODF1	.	.	.	.	.	436	601	16	0	469	485	0.0131363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2579.11	37	chr8	102560798	.	C	A,*	2579.11	.	AC=2,8;AF=0.053,0.211;AN=38;BaseQRankSum=0.124;DP=2095;ExcessHet=6.5132;FS=3.341;InbreedingCoeff=-0.2972;MLEAC=2,9;MLEAF=0.053,0.237;MQ=60.00;MQRankSum=0.00;QD=1.88;ReadPosRankSum=-3.220e-01;SOR=0.968	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:93,0,48:141:99:1|0:102560764_C_G:1839,2066,6115,0,3925,3747:102560764	9	0	2	2
chr8	102560804	102560814	AACCCGTGCAG	0	exonic	ODF1	.	.	.	.	.	433	610	23	0	456	479	0.0185036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.225	1772.07	37	chr8	102560804	.	AACCCGTGCAG	A,*	1772.07	.	AC=1,8;AF=0.025,0.200;AN=40;BaseQRankSum=-9.630e-01;DP=1919;ExcessHet=5.0238;FS=4.266;InbreedingCoeff=-0.2250;MLEAC=1,8;MLEAF=0.025,0.200;MQ=60.00;MQRankSum=0.00;QD=1.43;ReadPosRankSum=0.936;SOR=0.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:93,0,48:141:99:1|0:102560764_C_G:1839,2066,6115,0,3925,3747:102560764	11	0	1	1
chr8	119803972	119803972	T	C	exonic	TAF2	.	nonsynonymous SNV	TAF2:NM_003184:exon5:c.A466G:p.K156E,	Mental retardation, autosomal recessive 40, Autosomal recessive	.	1	1512	8	1	0	10	0.00329598	.	.	1327196	Microcephaly-thin_corpus_callosum-intellectual_disability_syndrome|not_specified|not_provided	MONDO:MONDO:0014273,MedGen:C3810080,OMIM:615599,Orphanet:397951|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.25	T	0.89	P	0.718	P	0.000	D	1.000	D	0.985	L	0.85	T	-0.982	T	0.148	T	0.755	4.061	20.9	4.73	1.049	7.997	12.016	0.185	0.0315857308106	0.0002	0.000399361	0.0003	9.61e-05	0	0	0.0002	0.0003	0	0.0008	0.0002264	35	154602	rs201478549	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0002	0.0008	0.0008	5.974e-05	0.0001	3.827e-05	0	1.872e-05	0.0012	0.0002	0.0004	0.0010	0.0003	0.0003	0.0002	0.0003	0.0008	0.0002	0.0002	0.0004	0.0003	9.621e-05	0	0.0007	0	0	0	0	0.0004	0	0.0008	0.1	0.30515	T	0.121	0.35840	T	0.89	0.48942	P	0.718	0.54779	P	0.000002	0.62929	D	0.101295	0.999999	0.58761	D	1.79	0.46772	L	0.85	0.47130	T	-1.72	0.40850	N	0.768	0.76573	-0.9820	0.34538	T	0.148	0.47469	T	10	0.17945617	0.33081	T	0.031586	0.53633	D	0.185	0.45933	.	.	0.344740032716	0.34089	0.8482916742556542	0.84790	1.17356924394	0.79831	0.751302242279	0.74638	T	0.017596	0.14326	T	-0.188235	0.22518	T	-0.107918	0.62777	T	0.10694418825109	0.13104	T	0.872113	0.57861	D	0.31398752	0.54128	0.162042	0.37661	0.31398752	0.54128	0.162042	0.37660	-5.831	0.44844	T	0.176083715099828	0.22451	0.351	0.56619	A	.	.	4.089063	0.60890	24.3	0.99776853727077952	0.86433	0.97970	0.78525	D	AEFBI	0.819175	0.74026	D	0.390944920699349	0.60931	4.287682	0.439920428991891	0.64072	4.654213	0.993747137019113	0.33337	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.89	4.73	0.59485	7.975000	0.87664	6.139000	0.54026	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.0:0.0674:0.0:0.9326	12.016	0.52609	799	0.44747	.	.	.	.	.	.	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	784.98	35	chr8	119803972	.	T	C	784.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.689;DP=775;ExcessHet=0.0000;FS=3.002;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.33;ReadPosRankSum=0.676;SOR=0.948	GT:AD:DP:GQ:PL	0/1:39,37:76:99:799,0,822	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	0/1:127,126:253:99:3180,0,3021	19	0	2	0
chr8	132129575	132129575	G	T	exonic	KCNQ3	.	nonsynonymous SNV	KCNQ3:NM_001204824:exon15:c.C1946A:p.P649H	Seizures, benign neonatal, type 2, Autosomal dominant	.	0	1517	4	1	0	6	0.00197368	.	.	141754	Benign_Neonatal_Epilepsy|Inborn_genetic_diseases|not_specified|Benign_neonatal_seizures|Seizures,_benign_familial_neonatal,_2|not_provided	MedGen:C0270851|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0016027,MedGen:C0220669,OMIM:PS121200,Orphanet:1949|MONDO:MONDO:0007366,MedGen:C1852581,OMIM:121201,Orphanet:1949|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.998	D	0.947	D	0.000	D	0.997	D	0	N	-5.28	D	0.655	D	0.824	D	0.268	3.034	16.12	5.14	2.379	2.236	17.586	0.345	.	0.0095	0.00638978	0.0027	0.0223	0.0029	0	0.0002	0.0008	0.0022	0.0002	0.0025744	398	154602	rs114095081	0.0013	0.0013	0.0014	0.0013	0.0218	0.0013	0.0012	0.0205	0.0200	0.0218	0.0037	0.0030	0	0.0001	0.0146	0.0006	0.0031	0.0001	0.0065	0.0065	0.0066	0.0063	0.0203	0.0062	0.0060	0.0191	0.0187	0.0203	0	0.0053	0.0026	0	0.0002	0.0272	0.0004	0.0066	0.0004	0.02	0.49613	D	0.108	0.37872	T	0.998	0.73220	D	0.947	0.68407	D	0.000303	0.45977	D	0.150076	0.996603	0.43303	D	1.1	0.28011	L	-5.31	0.98998	D	-0.9	0.24244	N	0.353	0.62526	0.655	0.92603	D	0.824	0.94100	D	10	0.008564889	0.00194	T	.	.	.	0.345	0.66676	.	.	0.431535674109	0.42773	0.34340638600876117	0.34253	0.423344336073	0.42799	0.352232038975	0.18250	T	0.329812	0.70007	T	-0.239151	0.15456	T	-0.0993799	0.63445	T	0.0280471244888582	0.01694	T	0.833117	0.50161	T	0.15274696	0.34659	0.12979625	0.31201	0.16285554	0.36388	0.124412335	0.29987	-4.53	0.31279	T	.	.	0.088	0.17146	B	.;.;.;.;.	.;.;.;.;.	2.426100	0.31206	18.67	0.99574911267503285	0.72621	0.97957	0.78421	D	AEFDGBI	0.528952	0.55026	D	0.207523211153108	0.51562	3.336546	0.216489595099467	0.50761	3.264868	0.999629318508506	0.41093	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	2.460000	0.44689	5.171000	0.47828	-0.110000	0.15115	0.997000	0.40164	1.000000	0.68203	0.114000	0.18915	0.0:0.0:1.0:0.0	17.586	0.87880	904	0.23766	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2390.98	37	chr8	132129575	.	G	T	2390.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.63;DP=873;ExcessHet=0.0000;FS=1.222;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.49;ReadPosRankSum=-9.200e-01;SOR=0.570	GT:AD:DP:GQ:PL	0/1:79,86:165:99:2405,0,2044	20	0	1	0
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	0/1:97,104:201:99:2576,0,2351	19	0	2	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	1/1:0,53,0:53:99:2384,161,0,2384,161,2384	0	17	0	0
chr8	144115528	144115528	T	G	exonic	WDR97	.	nonsynonymous SNV	WDR97:NM_001316309:exon22:c.T4265G:p.L1422R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.881	P	0.236	B	.	.	1.000	N	.	.	-0.11	T	-0.892	T	0.108	T	0.275	2.397	13.98	-9.96	-1.800	-0.721	5.803	0.205	0.104578848541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.006	0.70582	D	0.881	0.48446	P	0.236	0.38470	B	.	.	.	.	1	0.08975	N	.	.	.	-0.11	0.64445	T	-0.82	0.22508	N	0.073	0.04668	-0.8918	0.48775	T	0.108	0.39221	T	8	0.12984443	0.24708	T	0.104579	0.77923	D	0.205	0.49236	0.219	0.14078	0.459552425292	0.45580	0.18519753984325202	0.18437	.	.	0.276206612587	0.06969	T	0.005759	0.05208	T	-0.151135	0.28133	T	-0.454872	0.27161	T	0.162813046754446	0.18077	T	0.351165	0.07832	T	0.13031599	0.30411	0.0955533	0.22667	0.13031599	0.30411	0.0955533	0.22667	-3.599	0.17842	T	.	.	0.096	0.15206	B	.	.	-0.107970	0.03593	0.703	0.91797068982866237	0.21103	0.04374	0.09949	N	AEFDBI	0.095453	0.19285	N	-0.974593320495563	0.09149	0.4317982	-1.24928813036213	0.05141	0.2442839	0.999999996654648	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.604944	0.38103	0	.	.	4.98	-9.96	0.00366	-1.756000	0.01911	-0.059000	0.12448	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4143:0.3774:0.0:0.2083	5.803	0.17688	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	0.02381	227.98	38	chr8	144115528	.	T	G	227.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.730e-01;DP=701;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.12;ReadPosRankSum=-7.350e-01;SOR=0.789	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,11:32:99:0|1:144115528_T_G:242,0,565:144115528	20	0	1	0
chr8	144353958	144353958	G	A	exonic	TMEM249	.	stopgain	TMEM249:NM_001252404:exon2:c.C343T:p.R115X,	.	.	417	1090	14	1	0	16	0.00728597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	1.630	11.41	-4.57	-0.908	-1.174	5.439	.	.	.	0.00219649	0.0114	0	0	0	0	0.0161	0.0088	0.0106	0.001824	282	154602	rs145236969	0.0065	0.0061	0.0064	0.0065	0.0100	0.0063	0.0063	0.0094	0.0092	0.0008	0.0010	0.0193	0	0.0015	0.0041	0.0066	0.0068	0.0100	0.0039	0.0039	0.0038	0.0039	0.0085	0.0036	0.0035	0.0064	0.0057	0.0010	0	0.0016	0.0202	0.0002	0.0013	0.0102	0.0057	0.0028	0.0085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.99997	0.18612	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.752077	0.00017	T	-0.845834	0.01015	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273884	0.06514	2.994	0.91014845869555183	0.20265	0.00585	0.02632	N	AEFDGBI	0.025819	0.01834	N	-1.16729778039715	0.05501	0.2509456	-1.36833075699779	0.03594	0.1679818	0.999996047227951	0.74766	0.65757	0.49021	0	0.588066	0.40923	0	0.619478	0.44681	0	0.604944	0.38103	0	.	.	3.53	-4.57	0.03178	-1.146000	0.03302	-4.994000	0.01895	-0.149000	0.12139	0.056000	0.21631	0.000000	0.08366	0.101000	0.18331	0.3531:0.4553:0.1916:0.0	5.439	0.15794	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2047.98	34	chr8	144353958	.	G	A	2047.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.32;DP=859;ExcessHet=0.0000;FS=4.996;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-9.540e-01;SOR=0.391	GT:AD:DP:GQ:PL	0/1:70,75:145:99:2062,0,1677	20	0	1	0
chr8	144504855	144504855	C	A	exonic	GPT	.	nonsynonymous SNV	GPT:NM_005309:exon3:c.C337A:p.Q113K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.89	T	0.01	B	0.029	B	0.000	D	0.999	D	0.57	N	-2.65	D	-0.286	T	0.505	D	0.366	-0.146	3.288	5.23	2.431	1.274	16.274	0.298	0.132441495477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.802	0.03101	T	0.924	0.02835	T	0.002	0.09854	B	0.003	0.08700	B	0.000026	0.55875	D	0.121334	0.999135	0.46149	D	0.6	0.15550	N	-2.65	0.90210	D	-1.51	0.36787	N	0.285	0.32259	-0.2858	0.75382	T	0.505	0.81348	D	10	0.27959728	0.45532	T	0.132441	0.81477	D	0.298	0.61843	0.548	0.66296	0.793137472557	0.79121	0.7311917758941512	0.73064	0.0788859935082	0.08873	0.378213763237	0.22002	T	0.31397	0.68568	T	0.0264513	0.55249	T	-0.199781	0.54666	T	0.116260550916195	0.14060	T	0.933507	0.75104	D	0.31348538	0.54086	0.23046954	0.48150	0.31348538	0.54086	0.23046954	0.48149	-8.75	0.66073	D	.	.	0.081	0.08899	B	.;.	.;.	1.995351	0.25349	16.73	0.68749400932721505	0.08755	0.90181	0.51157	D	AEFDGBI	0.842724	0.75981	D	-0.40362839905532	0.25342	1.374951	-0.203747836662932	0.31402	1.776766	0.999999933215833	0.74766	0.580535	0.33130	0	0.550933	0.16991	0	0.514364	0.09456	0	0.604944	0.38103	0	.	.	5.23	5.23	0.72570	1.416000	0.34366	2.566000	0.33339	0.599000	0.40250	0.974000	0.34632	1.000000	0.68203	0.176000	0.21171	0.0:1.0:0.0:0.0	16.274	0.82459	900	0.24599	Aminotransferase, class I/classII;Aminotransferase, class I/classII	.	.	.	.	.	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	2494.98	93	chr8	144504855	.	C	A	2494.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.063e+00;DP=2028;ExcessHet=0.0000;FS=1.252;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.59;ReadPosRankSum=0.747;SOR=0.566	GT:AD:DP:GQ:PL	0/1:70,90:160:99:2509,0,2090	20	0	1	0
chr8	144512966	144512966	G	T	exonic	RECQL4	.	nonsynonymous SNV	RECQL4:NM_004260:exon15:c.C2636A:p.P879H,	Baller-Gerold syndrome, Autosomal recessive;RAPADILINO syndrome, Autosomal recessive;Rothmund-Thomson syndrome, Autosomal recessive	YES	0	1468	53	1	0	55	0.0183885	.	.	100790	not_provided|not_specified|Rothmund-Thomson_syndrome_type_2|Baller-Gerold_syndrome	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0016369,MedGen:C5203410,OMIM:268400,Orphanet:221016|MONDO:MONDO:0009039,MedGen:C0265308,OMIM:218600,Orphanet:1225	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0064	0.00539137	0.0111	0.0069	0.0209	0	0.0009	0.0170	0.0317	0.0028	0.0056662	876	154602	rs137975310	0.0101	0.0100	0.0102	0.0099	0.0284	0.0099	0.0099	0.0248	0.0234	0.0048	0.0115	0.0130	0	0.0012	0.0284	0.0112	0.0114	0.0031	0.0089	0.0089	0.0093	0.0085	0.0157	0.0085	0.0083	0.0141	0.0134	0.0051	0.0307	0.0157	0.0144	0	0.0009	0.0306	0.0113	0.0137	0.0023	.	.	.	0.129	0.34837	T	0.39	0.34593	B	0.159	0.34693	B	.	.	.	.	.	.	.	1.525	0.38595	L	.	.	.	.	.	.	0.23	0.25867	.	.	.	.	.	.	.	0.004400462	0.00090	T	.	.	.	.	.	.	.	0.739007817583	0.73667	0.32707399421941546	0.32620	.	.	0.322193324566	0.13753	T	0.027492	0.33267	T	-0.418621	0.01746	T	-0.363709	0.37622	T	.	.	.	0.310069	0.06017	T	0.034189038	0.03789	0.0702438	0.14899	0.03304768	0.03447	0.070746265	0.15067	-4.697	0.33367	T	.	.	0.082	0.09143	B	.;.	.;.	-0.192825	0.03128	0.501	0.58722281192310632	0.06058	0.34935	0.25184	N	AEFGBCI	0.070053	0.13892	N	.	.	.	.	.	.	0.999998398723936	0.74766	0.256867	0.04430	0	0.271743	0.05004	0	0.320204	0.05785	0	0.375513	0.06772	0	.	.	4.96	0.48	0.16014	0.280000	0.18550	0.457000	0.18579	-0.244000	0.07312	0.001000	0.13787	0.000000	0.08366	0.000000	0.00833	0.1883:0.1438:0.5207:0.1473	2.446	0.04231	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1405.98	51	chr8	144512966	.	G	T	1405.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.010e-01;DP=1211;ExcessHet=0.0000;FS=4.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.72;ReadPosRankSum=0.174;SOR=1.139	GT:AD:DP:GQ:PL	0/1:67,53:120:99:1420,0,1810	20	0	1	0
chr8	145052614	145052614	C	T	exonic	C8orf33	.	nonsynonymous SNV	C8orf33:NM_023080:exon2:c.C35T:p.A12V,	.	.	424	1086	11	1	0	13	0.00594966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.876	P	0.228	B	0.831	N	1.000	N	1.1	L	.	.	-1.067	T	0.048	T	0.208	2.810	15.36	2.96	1.944	0.523	9.639	0.065	0.00538928990046	0.0042	0.00199681	0.0033	0.0015	0.0021	0	0.0008	0.0050	0.0067	0.0010	0.0036222	560	154602	rs139779460	0.0050	0.0050	0.0053	0.0048	0.0061	0.0050	0.0049	0.0060	0.0060	0.0010	0.0021	0.0008	0	0.0005	0.0049	0.0061	0.0040	0.0010	0.0041	0.0041	0.0043	0.0038	0.0066	0.0038	0.0037	0.0061	0.0059	0.0013	0.0318	0.0044	0.0009	0	0.0005	0.0034	0.0066	0.0052	0.0002	0.084	0.32929	T	0.081	0.41742	T	0.876	0.48154	P	0.228	0.38116	B	0.831427	0.06944	N	1.091110	1	0.08975	N	0.55	0.14455	N	.	.	.	-0.74	0.20791	N	0.174	0.18649	-1.0667	0.10154	T	0.048	0.20592	T	8	0.004831791	0.00103	T	0.005389	0.13832	T	0.065	0.18881	.	.	0.310458034454	0.30648	0.10186366714440222	0.10117	0.141135838757	0.15921	.	.	.	0.006708	0.06137	T	-0.516198	0.00463	T	-0.507294	0.21594	T	0.00808730620811138	0.00096	T	0.431557	0.11736	T	0.02578641	0.01557	0.039426427	0.04033	0.02578641	0.01556	0.039426427	0.04033	-4.959	0.36392	T	.	.	0.121	0.30049	B	.;.;.;.;.	.;.;.;.;.	1.373501	0.17837	13.40	0.9931574992878992	0.59166	0.02772	0.07472	N	AEFDGBHI	0.043075	0.06765	N	-0.457987539710402	0.23471	1.260589	-0.594552627309294	0.19634	1.054325	0.999999999999856	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.372554	0.06265	0	.	.	2.96	2.96	0.33383	-0.075000	0.11392	1.207000	0.24879	-0.200000	0.08971	0.002000	0.15269	0.003000	0.18671	0.003000	0.05239	0.0:1.0:0.0:0.0	9.639	0.38990	531	0.73574	.;.;.;.;.	.	.	.	.	rs139779460	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	1528.98	38	chr8	145052614	.	C	T	1528.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.670e-01;DP=838;ExcessHet=0.0000;FS=1.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.23;ReadPosRankSum=0.219;SOR=0.878	GT:AD:DP:GQ:PL	0/1:69,56:125:99:1543,0,1929	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	0/1:42,16,0:58:99:.:.:455,0,1364,581,1412,1993	3	5	9	0
chr9	2718848	2718848	G	A	exonic	KCNV2	.	nonsynonymous SNV	KCNV2:NM_133497:exon1:c.G1109A:p.G370D,	Retinal cone dystrophy 3B, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	1377361	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.45	T	1.0	D	0.991	D	0.000	D	1.000	D	1.66	L	-4.99	D	1.046	D	0.946	D	0.755	3.887	19.76	5.07	2.352	9.076	18.485	0.788	0.275722925334	.	0.000399361	0.0002	0	0	0	0	0	0	0.0013	0.0001552	24	154602	rs534563578	7e-05	6.977e-05	3.689e-05	0.0001	0.0011	5.866e-05	5.475e-05	0.0009	0.0009	0	0	0	0	0	0	3.597e-06	4.971e-05	0.0011	7.219e-05	7.217e-05	3.854e-05	0.0001	0.0023	3.967e-05	3.124e-05	0.0013	0.0010	0	0	0	0	0	0	0	0	0	0.0023	0.085	0.32769	T	0.045	0.49390	D	1.0	0.90584	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.115	0.58683	M	-4.99	0.98507	D	-1.15	0.29525	N	0.678	0.68516	1.046	0.98041	D	0.946	0.98229	D	10	0.29073226	0.46654	T	0.275723	0.90047	D	0.788	0.92988	0.609	0.74182	0.984887991515	0.98472	0.9084740831747897	0.90820	0.142398766694	0.16057	0.65465760231	0.60647	T	0.362108	0.72807	T	0.063189	0.60013	T	0.277457	0.86988	D	0.254182309898512	0.23059	T	0.911709	0.68653	D	0.36590496	0.58281	0.42364335	0.66228	0.36192733	0.57983	0.34612527	0.60284	-8.644	0.65378	D	0.3998655109372717	0.49183	0.266	0.50025	B	.	.	5.189716	0.87036	29.1	0.99811459249329482	0.89531	0.97290	0.73825	D	AEFDBCI	0.919428	0.88994	D	0.654966684745378	0.76692	6.533455	0.650282438082134	0.78632	6.915357	0.999997041899991	0.74766	0.713056	0.82018	0	0.446627	0.06534	0	0.608524	0.38960	0	0.714379	0.83352	0	.	.	5.07	5.07	0.68106	9.198000	0.94138	11.758000	0.95564	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:0.0:1.0:0.0	18.485	0.90773	905	0.23532	Ion transport 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	1197.98	37	chr9	2718848	.	G	A	1197.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.447;DP=867;ExcessHet=0.0000;FS=0.765;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.61;ReadPosRankSum=-2.043e+00;SOR=0.588	GT:AD:DP:GQ:PL	0/1:50,45:95:99:1212,0,1386	20	0	1	0
chr9	4117933	4117933	C	G	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.G1080C:p.E360D	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	.	0	1512	10	0	0	10	0.00329598	.	.	193742	not_provided|Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|not_specified	MedGen:C3661900|MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.31	T	0.01	B	0.023	B	0.000	D	1.000	D	0.265	N	-2.02	D	-0.359	T	0.407	T	0.349	2.433	14.09	5.51	2.595	3.275	13.692	0.241	0.027846564951	0.0038	0.00199681	0.0028	0.0016	0.0017	0	0.0012	0.0042	0.0044	0.0007	0.0029366	454	154602	rs72687988	0.0041	0.0041	0.0041	0.0041	0.0047	0.0040	0.0039	0.0046	0.0045	0.0010	0.0021	0.0078	0	0.0011	0.0042	0.0047	0.0039	0.0010	0.0030	0.0030	0.0032	0.0028	0.0048	0.0028	0.0027	0.0044	0.0042	0.0009	0.0033	0.0031	0.0069	0	0.0013	0.0068	0.0048	0.0033	0.0002	0.384	0.14449	T	0.322	0.22359	T	0.01	0.15535	B	0.022	0.19653	B	0.000073	0.52346	D	0.000000	0.999662	0.49394	D	0.41	0.12415	N	-2.83	0.91249	D	-1.56	0.37955	N	0.281	0.31814	-0.3591	0.73290	T	0.407	0.75656	T	10	0.007063985	0.00161	T	0.027847	0.50607	D	0.241	0.54641	0.4	0.42917	0.938952316478	0.93832	0.3079862938546511	0.30711	0.145997136557	0.16486	0.59593129158	0.52330	T	0.161771	0.50617	T	-0.279464	0.10724	T	-0.173391	0.57132	T	0.0103554141077361	0.00142	T	0.913409	0.69158	D	0.23363514	0.46171	0.1695142	0.38990	0.18452345	0.39771	0.17580035	0.40070	-5.119	0.40977	T	.	.	0.303	0.55438	B	.;.	.;.	4.535016	0.71228	25.6	0.98347366897334476	0.40507	0.62904	0.31924	D	ALL	0.498040	0.53230	N	-0.132925408139564	0.35964	2.072526	0.0966217713423375	0.44379	2.720748	0.999999999999988	0.74766	0.520426	0.21595	0	0.61073	0.52368	0	0.440839	0.06518	1	0.638833	0.57524	0	.	.	5.51	5.51	0.81769	3.340000	0.51861	2.247000	0.31658	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:0.9261:0.0:0.0739	13.692	0.62033	882	0.29131	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	1	0	0.04762	3174.11	63	chr9	4117933	.	C	G	3174.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.975e+00;DP=1323;ExcessHet=0.1072;FS=3.993;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.87;ReadPosRankSum=0.182;SOR=0.503	GT:AD:DP:GQ:PL	0/1:75,63:138:99:1412,0,2168	19	0	2	0
chr9	4823599	4823599	G	A	exonic	RCL1	.	nonsynonymous SNV	RCL1:NM_005772:exon2:c.G188A:p.R63Q,	.	.	428	1093	1	0	0	1	0.000457247	.	.	2695010	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.46	T	0.593	P	0.096	B	0.000	D	1.000	D	1.45	L	.	.	-0.925	T	0.157	T	0.576	2.950	15.83	5.8	2.740	4.998	20.051	0.123	0.00613880152573	.	0.000199681	8.256e-05	0	0	0	0	1.502e-05	0	0.0005	7.76e-05	12	154602	rs115216700	8.433e-05	8.482e-05	8.595e-05	8.269e-05	0.0005	7.219e-05	6.765e-05	0.0004	0.0003	3.018e-05	0	0	2.539e-05	0	0	6.663e-05	9.96e-05	0.0005	4.6e-05	4.595e-05	2.571e-05	6.72e-05	0.0002	2.109e-05	1.527e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0.0002	0.318	0.17183	T	0.516	0.38160	T	0.593	0.39147	P	0.096	0.30313	B	0.000000	0.84330	D	0.048468	0.999994	0.58761	D	1.87	0.49600	L	.	.	.	-1.36	0.34397	N	0.539	0.56662	-0.9246	0.44915	T	0.157	0.48891	T	9	0.10673314	0.19793	T	0.006139	0.16082	T	0.123	0.34020	.	.	0.262679179196	0.25893	0.6328060110455264	0.63214	0.0789111135708	0.08879	0.700301170349	0.67186	T	0.019894	0.15761	T	-0.196256	0.21347	T	-0.174747	0.57007	T	0.0979989882098139	0.12136	T	0.90391	0.79866	D	0.20112842	0.42112	0.1767738	0.40234	0.20112842	0.42112	0.1767738	0.40234	-7.399	0.56897	T	.	.	0.112	0.21877	B	.;.	.;.	4.074861	0.60568	24.2	0.99707746857000368	0.81074	0.95313	0.64236	D	AEFGBI	0.542651	0.55830	D	0.23411883642901	0.52859	3.457536	0.37735062403958	0.60171	4.201834	0.999999999843613	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.709663	0.75317	0	0.645665	0.59343	0	.	.	5.8	5.8	0.92081	5.097000	0.64376	9.821000	0.81804	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.051	0.97627	880	0.29376	RNA 3'-terminal phosphate cyclase domain;RNA 3'-terminal phosphate cyclase 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	1220.98	34	chr9	4823599	.	G	A	1220.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.345;DP=803;ExcessHet=0.0000;FS=3.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.33;ReadPosRankSum=0.214;SOR=0.922	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1235,0,1000	20	0	1	0
chr9	13168390	13168390	T	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.A3230G:p.H1077R	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	1.0	D	0.999	D	0.001	D	1.000	D	1.745	L	1.15	T	-0.932	T	0.172	T	0.795	3.626	18.45	4.19	0.934	7.655	12.511	0.354	0.027143734527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.54683	D	0.122	0.38305	T	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.99952	0.47407	D	1.92	0.51302	L	1.15	0.38236	T	-3.94	0.73378	D	0.727	0.77978	-0.9318	0.43874	T	0.172	0.51484	T	10	0.73585963	0.74615	D	0.027144	0.49992	D	0.354	0.67510	0.704	0.84054	0.463068873536	0.45932	0.7174230411935983	0.71685	.	.	0.808946490288	0.83330	D	0.090101	0.38513	T	0.119062	0.66279	D	-0.0667528	0.65858	T	0.984072506427765	0.75510	D	0.89491	0.65919	D	0.3044438	0.53300	0.3014344	0.56175	0.3044438	0.53300	0.3014344	0.56174	-11.379	0.82043	D	.	.	0.853	0.86433	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.947322	0.57808	23.9	0.99577508414446592	0.72802	0.97696	0.76478	D	AEFBI	0.939189	0.93944	D	0.563804521385392	0.70926	5.573924	0.539877344724308	0.70694	5.543289	0.997216321833269	0.35382	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	4.19	0.48645	7.605000	0.82070	7.912000	0.74078	0.660000	0.55035	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.1397:0.8603	12.511	0.55349	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ 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	0.119	144.56	50	chr9	13168390	.	T	C	144.56	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-3.530e+00;DP=1567;ExcessHet=1.1607;FS=150.054;InbreedingCoeff=-0.1367;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.29;ReadPosRankSum=0.337;SOR=10.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:51:0|1:13168390_T_C:51,0,2312:13168390	16	0	5	0
chr9	13168391	13168391	G	C	exonic	MPDZ	.	nonsynonymous SNV	MPDZ:NM_001261406:exon22:c.C3229G:p.H1077D	Hydrocephalus, nonsyndromic, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	1.0	D	0.999	D	0.001	D	1.000	D	2.095	M	1.13	T	-0.663	T	0.264	T	0.899	4.537	24.5	5.36	2.656	9.420	19.459	0.509	0.0485137705426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.53172	D	0.027	0.58089	D	1.0	0.90584	D	0.999	0.92359	D	0.000899	0.41231	D	0.000000	0.999987	0.54805	D	2.47	0.71715	M	1.13	0.38556	T	-4.12	0.75220	D	0.892	0.93252	-0.6632	0.62135	T	0.264	0.63523	T	10	0.79950947	0.79374	D	0.048514	0.63407	D	0.509	0.78910	0.676	0.81398	0.530948259028	0.52743	0.7832599608026783	0.78276	.	.	0.803409934044	0.82484	D	0.183282	0.53557	T	0.262473	0.79757	D	0.139248	0.79496	D	0.994370400905609	0.85626	D	0.883312	0.62654	D	0.35159937	0.57191	0.477112	0.69706	0.35159937	0.57191	0.477112	0.69707	-15.211	0.96822	D	.	.	0.932	0.89634	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.419285	0.68430	25.2	0.99404669178338745	0.62981	0.99314	0.94366	D	AEFBI	0.940665	0.94292	D	0.86785734346884	0.90100	10.25299	0.852903496062704	0.93184	11.878	0.999999999878541	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.36	5.36	0.76624	9.512000	0.97013	11.867000	0.98473	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.459	0.94902	627	0.65350	PDZ domain;.;.;PDZ domain;.;.;PDZ 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	0.119	122.88	50	chr9	13168391	.	G	C	122.88	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-4.238e+00;DP=1541;ExcessHet=1.1607;FS=163.893;InbreedingCoeff=-0.1408;MLEAC=5;MLEAF=0.119;MQ=60.00;MQRankSum=0.00;QD=0.24;ReadPosRankSum=0.453;SOR=9.953	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,14:80:51:0|1:13168390_T_C:51,0,2312:13168390	16	0	5	0
chr9	15474143	15474143	C	G	exonic	PSIP1	.	nonsynonymous SNV	PSIP1:NM_021144:exon8:c.G724C:p.D242H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.898	P	0.452	P	0.038	N	0.756	D	0.895	L	0.79	T	-0.777	T	0.132	T	0.304	2.998	16.00	5.53	2.765	4.757	19.422	0.065	0.0224003459677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.091	0.40110	T	0.898	0.49442	P	0.351	0.46163	B	0.038159	0.24318	N	0.475111	0.755905	0.33982	D	0.695	0.17993	N	0.79	0.50192	T	-1.99	0.45949	N	0.188	0.21839	-0.7774	0.56448	T	0.132	0.44366	T	10	0.18326071	0.33644	T	0.022	0.45285	T	0.065	0.18881	0.159	0.06287	0.364535869594	0.36064	0.29249878257169826	0.29162	0.269757464717	0.29498	0.60105150938	0.53052	T	0.109663	0.42373	T	-0.0835784	0.39131	T	-0.357831	0.38303	T	0.518276408606852	0.33302	D	0.935206	0.75689	D	0.20306064	0.42371	0.2658078	0.52418	0.20306064	0.42371	0.2658078	0.52417	-5.877	0.45562	T	.	.	0.368	0.61408	A	.;.;.;.;.	.;.;.;.;.	4.505470	0.70502	25.5	0.99132921662335005	0.53302	0.95848	0.66412	D	AEFBI	0.656527	0.62848	D	0.387376137206191	0.60738	4.266039	0.483686528529731	0.66911	5.013855	0.999999935485469	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.53	5.53	0.82530	4.889000	0.62862	7.582000	0.60992	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	19.422	0.94717	520	0.74355	.;.;.;.;.	.	.	.	.	.	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	104.98	34	chr9	15474143	.	C	G	104.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.458e+00;DP=840;ExcessHet=0.0000;FS=47.045;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.90;ReadPosRankSum=1.89;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:100,17:117:99:0|1:15474141_A_G:119,0,3705:15474141	20	0	1	0
chr9	15474146	15474146	C	G	exonic	PSIP1	.	nonsynonymous SNV	PSIP1:NM_021144:exon8:c.G721C:p.E241Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.827	P	0.342	B	0.007	N	0.969	D	1.845	L	0.6	T	-0.803	T	0.162	T	0.18	3.769	19.14	4.63	1.482	4.757	14.256	0.055	0.0307989120078	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.57480	D	0.159	0.37173	T	0.598	0.45966	P	0.188	0.42471	B	0.006885	0.31732	N	0.351121	0.968878	0.38690	D	1.1	0.28011	L	0.53	0.55090	T	-1.72	0.40850	N	0.289	0.33796	-0.8028	0.54979	T	0.162	0.49781	T	10	0.19586116	0.35455	T	0.030799	0.53030	D	0.055	0.15663	0.164	0.06842	0.496043933117	0.49239	0.30839401287200624	0.30752	0.591894902042	0.54610	0.668368160725	0.62605	T	0.196233	0.55255	T	-0.111883	0.34456	T	-0.398488	0.33560	T	0.840290904045105	0.49351	D	0.910909	0.68443	D	0.18831635	0.40325	0.0984456	0.23471	0.18831635	0.40324	0.0984456	0.23470	-4.935	0.41130	T	.	.	0.234	0.51350	B	.;.;.;.;.	.;.;.;.;.	4.312338	0.65933	24.9	0.99778794364604051	0.86606	0.94905	0.62737	D	AEFBI	0.600122	0.59287	D	0.264884555435355	0.54378	3.603618	0.330768162559929	0.57356	3.900985	0.999744941322929	0.42466	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.53	4.63	0.57175	4.889000	0.62862	7.603000	0.61629	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9273:0.0:0.0727	14.256	0.65601	520	0.74355	.;.;.;.;.	.	.	.	.	.	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	98.98	68	chr9	15474146	.	C	G	98.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.693e+00;DP=983;ExcessHet=0.0000;FS=46.955;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.83;ReadPosRankSum=2.45;SOR=5.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:102,17:119:99:0|1:15474141_A_G:113,0,3743:15474141	20	0	1	0
chr9	17394900	17394900	T	C	exonic	CNTLN	.	nonsynonymous SNV	CNTLN:NM_001365029:exon15:c.T2446C:p.S816P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.911	P	0.563	P	.	.	1.000	N	1.7	L	2.35	T	-1.053	T	0.050	T	0.18	1.264	10.12	0.064	0.126	-0.281	2.882	0.013	0.00857619360364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.916e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.41096	D	0.184	0.29056	T	0.023	0.18885	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	2.35	0.67516	M	2.09	0.20122	T	-1.05	0.27463	N	0.166	0.17553	-1.0529	0.13601	T	0.050	0.21261	T	9	0.062128216	0.07898	T	0.008576	0.22680	T	0.013	0.01715	0.124	0.03018	0.0297737177859	0.01360	0.0983252962362964	0.09763	.	.	0.307184994221	0.11482	T	.	.	.	-0.237601	0.15655	T	-0.579074	0.14628	T	0.179341226816177	0.19193	T	0.419458	0.11115	T	.	.	.	.	.	.	.	.	-4.872	0.35419	T	.	.	0.083	0.09288	B	.	.	1.111941	0.14971	11.48	0.99448444149393045	0.65122	0.14148	0.18248	N	AEFBI	0.332060	0.43159	N	-0.652069549857985	0.17401	0.8950572	-0.713489754841712	0.16625	0.8803607	0.999376316363295	0.39355	0.730579	0.87903	0	0.573888	0.26702	0	0.749866	0.98131	0	0.635551	0.53088	0	.	.	5.93	0.064	0.13665	-0.219000	0.09233	0.156000	0.15349	0.665000	0.62972	0.000000	0.06391	0.714000	0.26310	0.442000	0.27716	0.1976:0.0683:0.2075:0.5266	2.882	0.05302	651	0.62880	.	.	.	.	.	.	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	141.71	42	chr9	17394900	.	T	C	141.71	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.459e+00;DP=1312;ExcessHet=0.3300;FS=102.575;InbreedingCoeff=-0.0775;MLEAC=3;MLEAF=0.071;MQ=59.98;MQRankSum=0.00;QD=0.44;ReadPosRankSum=0.418;SOR=9.190	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,18:107:45:.:.:45,0,1731	18	0	3	0
chr9	18928627	18928627	G	A	exonic	SAXO1	.	nonsynonymous SNV	SAXO1:NM_001287049:exon4:c.C655T:p.P219S	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.999	D	0.978	D	0.001	D	1.000	D	1.875	L	2.38	T	-1.007	T	0.128	T	0.343	2.731	15.09	4.17	1.304	3.753	13.494	0.238	0.00758459559412	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238190219	1.368e-06	1.368e-06	2.722e-06	0	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	2.413e-05	2.18e-06	8.2e-07	.	.	2.413e-05	0	0	0.0003	0	0	0	0	0	0	0.105	0.29823	T	0.0	0.92824	D	0.999	0.77913	D	0.978	0.74104	D	0.000921	0.41128	D	0.111229	0.989633	0.81001	D	.	.	.	2.38	0.15843	T	-4.72	0.79998	D	0.406	0.44666	-1.0074	0.27727	T	0.128	0.43645	T	10	0.55435383	0.64433	D	0.007585	0.20113	T	0.238	0.54217	0.563	0.68364	0.367425347029	0.36354	0.24961203553158245	0.24875	0.0156375807396	0.01492	0.385217428207	0.22994	T	0.070623	0.34005	T	-0.14965	0.28367	T	-0.452738	0.27393	T	0.968281388282776	0.68191	D	0.786121	0.43953	T	0.17312767	0.38043	0.2613846	0.51916	0.17312767	0.38043	0.2613846	0.51915	-4.285	0.27966	T	.	.	0.137	0.31733	B	.;.;.	.;.;.	2.570595	0.33311	19.30	0.99874144104929397	0.95160	0.90302	0.51370	D	AEFBI	0.377610	0.46132	N	0.37529105997898	0.60084	4.193807	0.29908410472327	0.55485	3.711618	0.99991212502742	0.45857	0.553676	0.25195	0	0.59043	0.45803	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.09	4.17	0.48303	3.830000	0.55469	4.559000	0.43834	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.372000	0.26156	0.0:0.0:0.8425:0.1575	13.494	0.60866	787	0.46738	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2446.98	35	chr9	18928627	.	G	A	2446.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.047e+00;DP=975;ExcessHet=0.0000;FS=4.351;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.75;ReadPosRankSum=-8.410e-01;SOR=1.014	GT:AD:DP:GQ:PL	0/1:80,98:178:99:2461,0,2100	20	0	1	0
chr9	24543734	24543734	C	T	exonic	IZUMO3	.	nonsynonymous SNV	IZUMO3:NM_001271706:exon5:c.G493A:p.E165K	.	.	428	1087	7	0	0	7	0.00320954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	.	.	.	.	0.000	D	.	.	.	.	2.7	T	-0.989	T	0.026	T	0.774	2.483	14.26	3.72	2.588	1.880	10.254	0.157	.	.	0.00898562	0.0022	0	0	0.0560	0	0.0002	0.0049	0.0010	0.0007891	122	154602	rs10966336	0.0020	0.0019	0.0020	0.0019	0.0690	0.0019	0.0019	0.0667	0.0658	3.168e-05	0.0001	0	0.0690	0	0.0005	4.36e-05	0.0029	0.0009	0.0022	0.0023	0.0020	0.0024	0.0596	0.0020	0.0019	0.0541	0.0520	0	0	0.0007	0	0.0596	0	0.0034	8.825e-05	0.0024	0.0008	0.013	0.56456	D	0.01	0.92824	D	.	.	.	.	.	.	0.000170	0.48594	D	0.000000	.	.	.	1.975	0.53506	M	2.7	0.23884	T	-2.71	0.70314	D	0.477	0.59648	-0.9890	0.32853	T	0.026	0.11043	T	6	0.0029291809	0.00047	T	.	.	.	0.157	0.40909	.	.	0.20549828249	0.20151	0.28734257676380853	0.28647	.	.	0.50381988287	0.39360	T	0.070	0.33801	T	-0.340386	0.05361	T	-0.208263	0.53862	T	0.0646618909025794	0.07881	T	0.848915	0.53103	T	0.23298836	0.46096	0.19628942	0.43352	0.23298836	0.46096	0.19628942	0.43351	-3.112	0.11434	T	.	.	0.222	0.50435	B	.;.;.	.;.;.	3.698000	0.52727	23.3	0.99873104680371738	0.95076	0.70998	0.34825	D	AEFI	0.118129	0.23111	N	0.125034172754553	0.47633	2.98626	0.11142251784633	0.45132	2.78185	0.00113123196779537	0.08261	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.69	3.72	0.41857	1.891000	0.39372	5.746000	0.49600	0.599000	0.40250	0.954000	0.33273	1.000000	0.68203	0.119000	0.19126	0.0:0.799:0.201:0.0	10.254	0.42561	950	0.11238	.;.;.	.	.	.	.	.	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	1696.98	34	chr9	24543734	.	C	T	1696.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.920e-01;DP=810;ExcessHet=0.0000;FS=3.579;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.15;ReadPosRankSum=-9.270e-01;SOR=1.061	GT:AD:DP:GQ:PL	0/1:44,68:112:99:1711,0,1008	20	0	1	0
chr9	26917138	26917138	G	A	exonic	PLAA	.	nonsynonymous SNV	PLAA:NM_001031689:exon10:c.C1445T:p.S482L,	.	.	432	1082	8	0	0	8	0.00368324	.	.	1452565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.701	P	0.041	B	0.000	D	1.000	D	1.485	L	0.57	T	-0.940	T	0.123	T	0.855	4.182	21.7	5.93	2.814	6.512	18.530	0.218	0.0243179632652	0.0005	0.000599042	0.0008	0.0006	0.0023	0	0.0002	0.0010	0	6.059e-05	0.0007503	116	154602	rs140970730	0.0008	0.0008	0.0008	0.0008	0.0043	0.0007	0.0007	0.0030	0.0026	0.0002	0.0015	3.829e-05	0	0.0004	0.0043	0.0009	0.0009	0.0002	0.0007	0.0006	0.0006	0.0007	0.0015	0.0005	0.0005	0.0010	0.0009	9.625e-05	0	0.0015	0	0	0.0004	0.0034	0.0009	0.0019	0	0.017	0.51248	D	0.232	0.27235	T	0.419	0.41872	B	0.035	0.23986	B	0.000107	0.50451	D	0.177387	1	0.81001	D	2.64	0.77224	M	0.4	0.57261	T	-2.66	0.56945	D	0.722	0.72388	-0.9401	0.42600	T	0.123	0.42547	T	10	0.064181	0.08473	T	0.024318	0.47307	T	0.218	0.51265	.	.	0.736095994272	0.73373	0.3869127882866225	0.38606	0.254493974337	0.28019	0.520802617073	0.41739	T	0.109529	0.42347	T	-0.0588391	0.43089	T	0.102172	0.77053	D	0.0430049764906576	0.04238	T	0.80002	0.44558	T	0.15282911	0.34673	0.16971284	0.39027	0.15282911	0.34673	0.16971284	0.39026	-6.474	0.50086	T	0.31082483336992506	0.40868	0.078	0.09675	B	.;.	.;.	3.447179	0.47979	22.5	0.99864419586410313	0.94276	0.98647	0.85104	D	AEFBI	0.627965	0.61023	D	0.310516362262114	0.56689	3.833913	0.45506537187777	0.65041	4.774036	0.999999727407085	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	6.549000	0.73800	11.911000	0.99583	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	18.530	0.90940	487	0.76954	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	507.98	33	chr9	26917138	.	G	A	507.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.84;DP=726;ExcessHet=0.0000;FS=1.617;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.54;ReadPosRankSum=-7.120e-01;SOR=1.244	GT:AD:DP:GQ:PL	0/1:10,16:26:99:522,0,249	20	0	1	0
chr9	35295883	35295883	C	A	exonic	UNC13B	.	nonsynonymous SNV	UNC13B:NM_001330653:exon8:c.C714A:p.D238E	.	.	435	1048	37	2	0	41	0.0191858	.	.	700991	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.1	T	0.884	P	0.167	B	0.001	D	0.973	D	1.935	M	1.09	T	-0.472	T	0.281	T	0.381	2.735	15.11	1.96	-0.083	1.777	12.280	0.145	.	0.0106	0.00479233	0.0084	0.0021	0.0074	0	0	0.0122	0.0167	0.0044	0.0081047	1253	154602	rs35199210	0.0096	0.0096	0.0096	0.0097	0.0333	0.0095	0.0094	0.0294	0.0280	0.0025	0.0102	0.0514	0	0.0002	0.0333	0.0097	0.0136	0.0040	0.0077	0.0077	0.0080	0.0073	0.0110	0.0073	0.0072	0.0097	0.0092	0.0019	0.0033	0.0110	0.0521	0.0006	9.434e-05	0.0102	0.0099	0.0170	0.0037	0.004	0.65419	D	0.171	0.33780	T	0.884	0.48618	P	0.138	0.33406	B	0.000984	0.40743	D	0.236533	0.972537	0.38954	D	2.35	0.67516	M	-1.98	0.85247	D	-0.37	0.14000	N	0.588	0.60833	-0.4719	0.69658	T	0.281	0.65299	T	10	0.0052330196	0.00114	T	.	.	.	0.145	0.38592	0.148	0.05138	0.660788651602	0.65794	0.19109466861837113	0.19027	0.263833591492	0.28942	0.610554933548	0.54395	T	0.016412	0.43235	T	-0.275902	0.11107	T	-0.159695	0.58380	T	0.0356482401155776	0.02920	T	0.89601	0.67171	D	0.08653681	0.20117	0.09496227	0.22500	0.08653681	0.20117	0.09496227	0.22500	-3.877	0.21958	T	.	.	0.263	0.65078	B	.;.;.;.	.;.;.;.	1.389786	0.18026	13.50	0.99145607044478112	0.53655	0.97075	0.72544	D	AEFBI	0.589649	0.58645	D	-0.393676163815362	0.25693	1.396658	-0.328153910817774	0.27193	1.507234	0.018091049775015	0.13020	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.8	1.96	0.25203	1.824000	0.38710	0.129000	0.15021	-0.231000	0.07715	1.000000	0.71638	0.944000	0.28851	0.993000	0.69303	0.0:0.7439:0.0:0.2561	12.280	0.54079	167	0.93508	.;.;.;.	.	.	.	.	.	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	2287.98	38	chr9	35295883	.	C	A	2287.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.153;DP=855;ExcessHet=0.0000;FS=5.080;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.76;ReadPosRankSum=-3.760e-01;SOR=1.132	GT:AD:DP:GQ:PL	0/1:78,77:155:99:2302,0,2154	20	0	1	0
chr9	68537285	68537285	C	T	exonic	TMEM252	.	nonsynonymous SNV	TMEM252:NM_153237:exon2:c.G487A:p.A163T,	.	.	431	1084	7	0	0	7	0.00321839	.	.	3346360	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.1	T	0.454	P	0.087	B	0.189	N	1.000	N	1.995	M	.	.	-1.027	T	0.083	T	0.13	2.029	12.74	1.8	0.068	-0.005	4.646	0.027	0.0132951544094	0.0009	0.000399361	0.0006	0.0002	0.0004	0	0	0.0009	0	0.0007	0.0005498	85	154602	rs141633262	0.0004	0.0004	0.0004	0.0005	0.0037	0.0004	0.0004	0.0025	0.0021	0.0002	0.0004	0.0070	2.552e-05	0	0.0037	0.0003	0.0008	0.0006	0.0004	0.0004	0.0004	0.0003	0.0006	0.0003	0.0003	0.0003	0.0002	2.404e-05	0.0022	0.0003	0.0043	0	0	0.0136	0.0004	0.0009	0.0006	0.139	0.25768	T	0.022	0.57587	D	0.454	0.36182	P	0.087	0.29615	B	0.189123	0.16894	N	0.538594	1	0.08975	N	1.7	0.43825	L	.	.	.	-2.74	0.58248	D	0.019	0.00279	-1.0268	0.21494	T	0.083	0.32671	T	9	0.003957838	0.00076	T	0.013295	0.32578	T	0.027	0.05988	.	.	0.0138822411134	0.00435	0.10101517862697994	0.10032	0.0804966138966	0.09062	0.312860846519	0.12340	T	0.089802	0.38449	T	-0.50146	0.00561	T	-0.59279	0.13426	T	0.018145002747263	0.00536	T	0.393061	0.09795	T	0.07236918	0.16094	0.112122476	0.27051	0.07236918	0.16094	0.112122476	0.27050	-3.764	0.20268	T	.	.	0.073	0.04477	B	.	.	0.279888	0.06568	3.057	0.93009102608997329	0.22602	0.00521	0.02426	N	AEFBI	0.048088	0.08168	N	-0.597903229264886	0.19008	0.9914769	-0.694328801690222	0.17101	0.9078342	0.999716154845064	0.42101	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.69	1.8	0.24069	0.087000	0.14801	-0.625000	0.08154	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5211:0.1515:0.3274	4.646	0.11956	.	.	.	.	.	.	.	.	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	1191.98	34	chr9	68537285	.	C	T	1191.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.710e-01;DP=795;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=0.299;SOR=0.670	GT:AD:DP:GQ:PL	0/1:45,49:94:99:1206,0,1108	20	0	1	0
chr9	69391730	69391730	G	A	exonic	FAM189A2	.	nonsynonymous SNV	FAM189A2:NM_001127608:exon11:c.G1279A:p.E427K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.01	B	0.003	B	0.171	N	1.000	N	1.7	L	4.13	T	-1.026	T	0.065	T	0.244	-0.326	2.454	1.48	0.009	0.649	11.169	0.027	0.00512538786742	.	.	1.747e-05	0	0	0	0	1.591e-05	0	6.233e-05	1.94e-05	3	154602	rs770475612	1.642e-05	1.71e-05	1.089e-05	2.2e-05	6.958e-05	1.111e-05	9.34e-06	2.996e-05	2.038e-05	0	0	0	2.519e-05	0	0	1.439e-05	1.656e-05	6.958e-05	3.943e-05	3.94e-05	6.424e-05	1.345e-05	5.88e-05	1.716e-05	1.13e-05	1.972e-05	1.124e-05	4.825e-05	0	0	0	0	0	0	5.88e-05	0	0	0.226	0.18562	T	0.256	0.23298	T	0.01	0.15535	B	0.003	0.08700	B	0.171257	0.17368	N	0.556583	0.999997	0.08975	N	1.59	0.40313	L	4.13	0.02865	T	-0.86	0.23372	N	0.067	0.03956	-1.0265	0.21593	T	0.065	0.27017	T	10	0.07548091	0.11670	T	0.005125	0.13001	T	0.027	0.05988	.	.	0.269558022972	0.26553	0.35388343034154945	0.35302	0.206080854031	0.23033	0.489144980907	0.37320	T	0.018894	0.15149	T	-0.338241	0.05511	T	-0.540869	0.18211	T	0.0143198556460104	0.00286	T	0.624238	0.24084	T	0.041914456	0.06261	0.07200125	0.15482	0.041914456	0.06261	0.07200125	0.15482	-4.472	0.30520	T	.	.	0.087	0.20972	B	.;.;.	.;.;.	0.890165	0.12634	9.161	0.81628798796902968	0.13780	0.19520	0.20692	N	AEFBI	0.060645	0.11540	N	-0.999550763339175	0.08613	0.4045286	-1.00609567301719	0.09651	0.4813675	0.788275092201281	0.23969	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	5.53	1.48	0.21900	0.578000	0.23476	1.385000	0.26067	-0.790000	0.03253	0.135000	0.23427	0.942000	0.28804	0.018000	0.11154	0.0656:0.3617:0.5728:0.0	11.169	0.47784	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	1	0	0	0	0.02381	930.98	35	chr9	69391730	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=785;ExcessHet=0.0000;FS=6.541;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.58;ReadPosRankSum=0.749;SOR=1.569	GT:AD:DP:GQ:PL	0/1:40,34:74:99:945,0,1112	20	0	1	0
chr9	77344204	77344204	G	A	exonic	VPS13A	.	nonsynonymous SNV	VPS13A:NM_001018037:exon50:c.G6961A:p.E2321K	Choreoacanthocytosis, Autosomal recessive	YES	7	1499	15	1	0	17	0.00563847	.	.	313408	VPS13A-related_disorder|Chorea-acanthocytosis|not_provided	.|MONDO:MONDO:0008695,MedGen:C0393576,OMIM:200150,Orphanet:2388|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.88	T	1.0	D	0.985	D	0.000	D	1.000	D	1.445	L	1.53	T	-1.052	T	0.140	T	0.8	1.962	12.52	5.96	2.830	6.960	19.382	0.206	0.0254008848318	7.7e-05	.	0.0006	0	8.639e-05	0	0	0.0002	0.0011	0.0034	0.0004463	69	154602	rs370401336	0.0003	0.0003	0.0002	0.0004	0.0037	0.0003	0.0002	0.0034	0.0032	0	0	3.831e-05	5.055e-05	0	0.0016	4.411e-05	0.0003	0.0037	0.0001	0.0001	5.144e-05	0.0002	0.0027	8.175e-05	6.73e-05	0.0016	0.0013	0	0	0	0	0	0	0	7.353e-05	0.0005	0.0027	0.109	0.29288	T	0.15	0.40110	T	0.999	0.90584	D	0.939	0.76457	D	0.000001	0.84330	D	0.055231	1	0.81001	D	2.25	0.63811	M	1.53	0.30401	T	-1.13	0.29114	N	0.809	0.82358	-1.0517	0.13926	T	0.140	0.45847	T	10	0.008782804	0.00199	T	0.025401	0.48370	D	0.206	0.49396	.	.	0.651195803754	0.64829	0.6882308993755194	0.68763	0.629044018117	0.56961	0.561564683914	0.47489	T	0.11496	0.43318	T	-0.228054	0.16906	T	-0.103097	0.63156	T	0.127359509468079	0.15136	T	0.906209	0.66975	D	0.18048228	0.39171	0.22905059	0.47965	0.18048228	0.39170	0.22905059	0.47964	-6.019	0.58192	T	.	.	0.086	0.10594	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.195196	0.87139	29.1	0.92037929451987821	0.21379	0.98675	0.85440	D	AEFBI	0.743335	0.68667	D	0.415732734553668	0.62287	4.442098	0.476276528578892	0.66420	4.949937	0.999999997492236	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	7.036000	0.76250	9.879000	0.82185	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.0:0.0:1.0:0.0	19.382	0.94532	563	0.71062	.;.;Vacuolar protein sorting-associated protein 13, SHR-binding domain;.;.;.;Vacuolar protein sorting-associated protein 13, SHR-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	1	0	0	0	0	0	0	0.04762	1505.11	34	chr9	77344204	.	G	A	1505.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.732;DP=793;ExcessHet=0.1072;FS=0.615;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.24;ReadPosRankSum=1.44;SOR=0.628	GT:AD:DP:GQ:PL	0/1:44,35:79:99:737,0,936	19	0	2	0
chr9	81993985	81993985	C	T	exonic	SPATA31D1	.	nonsynonymous SNV	SPATA31D1:NM_001001670:exon4:c.C3515T:p.T1172I,	.	.	436	1061	25	0	0	25	0.0116442	.	.	3185101	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.01	B	0.012	B	.	.	1.000	N	-0.205	N	3.73	T	-0.940	T	0.003	T	0.042	-2.303	0.004	-6.11	-2.594	-3.244	0.145	0.091	.	0.0076	0.00599042	0.0093	0.0025	0.0096	0.0094	0.0186	0.0096	0.0067	0.0081	0.0086545	1338	154602	rs75742550	0.0093	0.0093	0.0093	0.0093	0.0222	0.0092	0.0091	0.0191	0.0179	0.0021	0.0061	0.0109	0.0142	0.0162	0.0222	0.0092	0.0093	0.0079	0.0077	0.0077	0.0075	0.0079	0.0127	0.0073	0.0072	0.0103	0.0094	0.0026	0	0.0082	0.0098	0.0127	0.0160	0.0306	0.0089	0.0076	0.0075	0.606	0.05534	T	0.749	0.04825	T	0.01	0.15535	B	0.012	0.16012	B	.	.	.	.	1	0.08975	N	-0.145	0.04423	N	3.73	0.03982	T	0.24	0.04533	N	0.038	0.01203	-0.9403	0.42568	T	0.003	0.00832	T	9	0.00535962	0.00118	T	.	.	.	0.091	0.26358	.	.	0.0551355673512	0.04727	0.059101713218592894	0.05850	.	.	0.363908261061	0.19953	T	0.001127	0.00635	T	-0.779051	0.00011	T	-0.881441	0.00642	T	0.000265831222128499	0.00002	T	0.309669	0.06003	T	0.021717023	0.00789	0.025837151	0.00643	0.021717023	0.00789	0.025837151	0.00643	-4.279	0.27881	T	.	.	0.172	0.37709	B	.	.	-1.202646	0.00528	0.012	0.049538297947052883	0.00007	0.00708	0.02999	N	AEFBHCI	0.022272	0.01093	N	-1.99019609734896	0.00222	0.009516159	-2.08048189749089	0.00205	0.009048892	0.0787346038505071	0.15797	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.05	-6.11	0.01950	-1.815000	0.01816	-9.720000	0.00785	-1.342000	0.01202	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2811:0.1577:0.2358:0.3254	0.145	0.00081	921	0.19240	.	.	.	.	.	.	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	2155.98	38	chr9	81993985	.	C	T	2155.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.184;DP=1395;ExcessHet=0.0000;FS=0.566;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=-1.159e+00;SOR=0.615	GT:AD:DP:GQ:PL	0/1:89,81:170:99:2170,0,2334	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	0/1:221,151:403:99:914,0,3543	0	0	21	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	0/2:33,0,44,0,0,0:77:99:1463,1564,2823,0,1259,1127,1564,2823,1259,2823,1564,2823,1259,2823,2823,1564,2823,1259,2823,2823,2823	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	0/2:33,0,44,0,0,0:77:99:1463,1564,2823,0,1259,1127,1564,2823,1259,2823,1564,2823,1259,2823,2823,1564,2823,1259,2823,2823,2823	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	0/2:33,0,44,0,0,0:77:99:1463,1564,2823,0,1259,1127,1564,2823,1259,2823,1564,2823,1259,2823,2823,1564,2823,1259,2823,2823,2823	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	0/2:33,0,44,0,0,0:77:99:1463,1564,2823,0,1259,1127,1564,2823,1259,2823,1564,2823,1259,2823,2823,1564,2823,1259,2823,2823,2823	1	2	3	0
chr9	94320560	94320560	G	A	exonic	NUTM2F	.	nonsynonymous SNV	NUTM2F:NM_017561:exon5:c.C1016T:p.P339L,	.	.	542	974	5	1	0	7	0.00358056	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.487	P	0.037	B	.	.	1.000	N	0.55	N	2.79	T	-1.056	T	0.026	T	0.15	-0.894	0.451	-2.4	-1.238	0.027	3.933	0.017	.	0.0009	0.00459265	0.0054	0	0.0008	0.0003	0.0005	0.0027	0.0049	0.0221	0.00146	38	26028	rs201095237	0.0022	0.0022	0.0017	0.0027	0.0189	0.0021	0.0021	0.0181	0.0178	0.0001	0.0008	0.0351	7.563e-05	0	0.0041	0.0003	0.0036	0.0189	0.0019	0.0019	0.0018	0.0021	0.0193	0.0018	0.0017	0.0161	0.0149	0.0001	0	0.0012	0.0386	0.0004	0	0.0034	0.0005	0.0028	0.0193	0.205	0.20002	T	0.355	0.18449	T	0.487	0.36886	P	0.037	0.23121	B	.	.	.	.	1	0.08975	N	0.97	0.24054	L	2.79	0.11839	T	-1.92	0.47683	N	0.129	0.12341	-1.0556	0.12882	T	0.026	0.11087	T	9	0.0039569736	0.00076	T	.	.	.	0.017	0.02790	.	.	0.0138822411134	0.00435	0.05624359009987112	0.05565	.	.	0.374657034874	0.21497	T	0.016144	0.13402	T	-0.666839	0.00057	T	-0.715708	0.05005	T	0.00377218578939083	0.00040	T	0.608739	0.24237	T	0.025171801	0.01426	0.03792947	0.03550	0.025171801	0.01425	0.03792947	0.03549	-5.655	0.43291	T	.	.	0.075	0.09288	B	.;.	.;.	1.304249	0.17066	12.94	0.30819484925188778	0.01705	0.00342	0.01773	N	AEFI	0.026488	0.01998	N	-1.32858351357419	0.03352	0.1495953	-1.49041234483898	0.02422	0.1113858	5.57576795787796E-6	0.01202	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.2	-2.4	0.06204	-1.468000	0.02456	-20.000000	0.00162	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.3561:0.3502:0.2936	3.933	0.08794	917	0.20147	Nuclear Testis  protein, N-terminal;Nuclear Testis  protein, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.04762	826.11	19	chr9	94320560	.	G	A	826.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.93;DP=543;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=53.63;MQRankSum=1.53;QD=17.21;ReadPosRankSum=-3.170e-01;SOR=0.758	GT:AD:DP:GQ:PL	0/1:14,16:30:99:495,0,383	19	0	2	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	2/2:0,0,8:8:25:.:.:321,321,321,25,25,0	2	0	1	0
chr9	111713160	111713160	T	C	exonic	SHOC1	.	nonsynonymous SNV	SHOC1:NM_001378212:exon13:c.A2014G:p.I672V	.	.	838	646	27	11	0	49	0.0365399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.802	P	0.337	B	0.017	N	1.000	N	0.975	L	3.6	T	-0.991	T	0.012	T	0.158	1.669	11.54	1.57	0.352	0.722	7.601	0.051	.	0.0012	0.00399361	0.0067	0.0001	0.0012	0	0.0002	0.0030	0.0056	0.0327	0.0043919	679	154602	rs77603777	0.0026	0.0026	0.0017	0.0035	0.0273	0.0025	0.0025	0.0264	0.0260	0.0001	0.0008	0.0049	5.142e-05	9.446e-05	0.0120	0.0009	0.0028	0.0273	0.0018	0.0018	0.0012	0.0023	0.0222	0.0016	0.0015	0.0188	0.0175	0.0003	0	0.0017	0.0043	0	0	0.0170	0.0015	0.0014	0.0222	0.112	0.35537	T	0.159	0.31527	T	.	.	.	.	.	.	0.016668	0.27917	N	0.310911	0.960653	0.26138	N	.	.	.	3.58	0.04594	T	0.01	0.06868	N	0.186	0.25006	-0.9908	0.32398	T	0.012	0.04510	T	10	0.005660802	0.00126	T	.	.	.	0.051	0.14325	.	.	0.0297737177859	0.01360	0.12250603467386734	0.12177	0.238885580098	0.26443	.	.	.	.	.	.	-0.575007	0.00207	T	-0.578462	0.14682	T	0.0271089205306504	0.01560	T	0.608739	0.23867	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.30211	B	.;.;.;.	.;.;.;.	1.732206	0.22045	15.46	0.9281016935863946	0.22335	0.75720	0.37088	D	AEFGI	0.152045	0.27665	N	-0.20663209233838	0.32861	1.857969	-0.156974835452625	0.33140	1.89268	0.322556305796933	0.19399	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.53	1.57	0.22490	0.737000	0.25812	0.461000	0.18618	0.587000	0.30956	1.000000	0.71638	0.999000	0.35428	0.996000	0.76049	0.1311:0.0:0.2731:0.5958	7.601	0.27245	362	0.84826	.;.;.;.	.	.	.	.	.	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	3004.68	34	chr9	111713160	.	T	C	3004.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.130e-01;DP=900;ExcessHet=0.3300;FS=0.450;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.51;ReadPosRankSum=1.23;SOR=0.725	GT:AD:DP:GQ:PL	0/1:36,42:78:99:1048,0,861	18	0	3	0
chr9	113042999	113042999	G	A	exonic	ZFP37	.	nonsynonymous SNV	ZFP37:NM_001282515:exon4:c.C1664T:p.T555I	.	.	390	1129	2	1	0	4	0.00176835	.	.	2350062	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.99	D	0.876	P	0.000	D	0.946	D	1.695	L	1.78	T	-0.957	T	0.098	T	0.552	3.044	16.16	3.53	1.453	4.523	6.299	0.162	0.00986463742144	0.0002	.	8.254e-05	9.617e-05	0.0002	0	0	0.0001	0	0	8.41e-05	13	154602	rs149645659	4.858e-05	4.857e-05	4.357e-05	5.364e-05	0.0003	3.927e-05	3.605e-05	7.286e-05	5.163e-05	0	0.0002	0	0	0.0001	0.0003	4.227e-05	0.0001	1.159e-05	4.602e-05	4.597e-05	6.426e-05	2.691e-05	8.823e-05	2.11e-05	1.527e-05	3.763e-05	2.576e-05	0	0	6.545e-05	0	0	0	0	8.823e-05	0	0	0.0	0.91255	D	0.003	0.76473	D	0.99	0.63424	D	0.876	0.62173	P	0.000350	0.45440	D	0.000000	0.945512	0.37490	D	1.57	0.39626	L	1.78	0.25678	T	-5.58	0.86608	D	0.345	0.51583	-0.9570	0.39735	T	0.098	0.36548	T	10	0.30584216	0.48099	T	0.009865	0.25698	T	0.162	0.41843	.	.	0.496165130923	0.49253	0.11629488499988143	0.11557	0.465128629096	0.45962	0.802034258842	0.82273	T	0.106935	0.41871	T	-0.225039	0.17311	T	-0.305984	0.44088	T	0.484297603368759	0.32055	T	0.186781	0.01946	T	0.6062477	0.73026	0.5085408	0.71598	0.6062477	0.73027	0.5085408	0.71598	-9.205	0.69349	D	.	.	0.874	0.81093	P	.;.;.	.;.;.	4.400717	0.67996	25.2	0.99837472756340118	0.91800	0.00503	0.02366	N	AEFBHCI	0.697139	0.65525	D	0.386141763850967	0.60669	4.258546	0.376981977601489	0.60148	4.199345	0.100370156485502	0.16352	0.638212	0.43195	0	0.670034	0.63936	0	0.653264	0.51672	0	0.620846	0.47308	0	.	.	4.43	3.53	0.39533	4.780000	0.62075	4.456000	0.43441	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.965000	0.52897	0.097:0.1889:0.7141:0.0	6.299	0.20313	860	0.33753	Zinc finger C2H2-type;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1235.98	34	chr9	113042999	.	G	A	1235.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.05;DP=761;ExcessHet=0.0000;FS=0.834;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.26;ReadPosRankSum=-8.880e-01;SOR=0.563	GT:AD:DP:GQ:PL	0/1:41,40:81:99:1250,0,1166	20	0	1	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|1:122,49:171:99:0|1:114406374_C_G:607,0,4121:114406374	5	0	12	4
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.982	D	0.000	D	1.000	D	2.295	M	3.67	T	-1.010	T	0.111	T	0.82	3.969	20.3	5.29	2.485	5.391	18.935	0.328	0.0327677642762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.025	0.63918	D	1.0	0.90584	D	0.982	0.75477	D	0.000003	0.62929	D	0.058524	1	0.81001	D	2.485	0.72352	M	3.67	0.11947	T	-1.91	0.45042	N	0.816	0.81162	-1.0102	0.26854	T	0.111	0.39817	T	10	0.7625818	0.76459	D	0.032768	0.54504	D	0.328	0.65026	0.301	0.26843	0.629257994256	0.62622	0.515018125573271	0.51424	0.317085791368	0.33956	0.693475842476	0.66205	T	0.250673	0.62080	T	0.0954069	0.63792	D	-0.100731	0.63342	T	0.93917840719223	0.61041	D	0.923508	0.72088	D	0.42132396	0.62180	0.29035416	0.55058	0.42132396	0.62180	0.29035416	0.55057	-4.136	0.26316	T	.	.	0.663	0.73938	P	.;.;.	.;.;.	4.986942	0.82651	27.8	0.98226065711499799	0.39343	0.97842	0.77538	D	AEFDBI	0.694202	0.65328	D	0.672510807959941	0.77831	6.75116	0.61009073618077	0.75672	6.352084	0.999999999999999	0.74766	0.706298	0.61202	0	0.633656	0.55848	0	0.709663	0.75317	0	0.586402	0.36253	0	.	.	5.29	5.29	0.74430	5.501000	0.66665	7.602000	0.61596	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.667000	0.33166	0.0:1.0:0.0:0.0	18.935	0.92554	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	0.2632	4474.23	143	chr9	114406375	.	C	G	4474.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.573e+00;DP=3997;ExcessHet=6.1002;FS=130.641;InbreedingCoeff=-0.3565;MLEAC=11;MLEAF=0.289;MQ=60.00;MQRankSum=0.00;QD=2.30;ReadPosRankSum=0.216;SOR=12.457	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:122,49:171:99:0|1:114406374_C_G:607,0,4121:114406374	9	0	10	2
chr9	115063967	115063967	T	C	exonic	TNC	.	nonsynonymous SNV	TNC:NM_002160:exon12:c.A3589G:p.I1197V,	Deafness, autosomal dominant 56, Autosomal dominant	.	410	1102	9	1	0	11	0.00496614	.	.	751350	TNC-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.55	T	0.782	P	0.609	P	0.000	D	1.000	D	1.61	L	0.71	T	-0.986	T	0.154	T	0.424	1.131	9.610	4.64	2.239	2.155	12.650	0.093	0.00893537600478	.	0.000199681	0.0005	0	0	0	0	0.0002	0	0.0025	0.0003752	58	154602	rs138416542	0.0003	0.0003	0.0002	0.0003	0.0025	0.0002	0.0002	0.0022	0.0021	0	0	0.0004	0	0	0.0023	0.0001	0.0004	0.0025	0.0002	0.0002	0.0001	0.0003	0.0031	0.0001	0.0001	0.0019	0.0015	0	0	0	0	0	0	0	0.0002	0	0.0031	0.624	0.06935	T	0.358	0.44302	T	0.782	0.44333	P	0.609	0.51053	P	0.000449	0.44317	D	0.142982	1	0.81001	D	1.795	0.47270	L	0.71	0.51228	T	0.0	0.09796	N	0.48	0.52119	-0.9858	0.33639	T	0.154	0.48412	T	10	0.016422302	0.00346	T	0.008935	0.23535	T	0.093	0.26882	.	.	0.70889124218	0.70635	0.46178433276570047	0.46096	0.445351969728	0.44427	0.46960735321	0.34625	T	0.074316	0.34910	T	-0.41183	0.01933	T	-0.371126	0.36758	T	0.063524616230576	0.07711	T	0.875712	0.69569	D	0.095316626	0.22428	0.06699307	0.13798	0.095316626	0.22428	0.06699307	0.13798	-5.301	0.39953	T	.	.	0.215	0.45653	B	.;.;.	.;.;.	3.124604	0.42199	21.5	0.97144751534620355	0.32560	0.86780	0.46136	D	AEFDBCI	0.456556	0.50837	N	0.0775334449598108	0.45417	2.798505	0.200615801515195	0.49880	3.186197	0.999999965553843	0.74766	0.559995	0.30671	0	0.59043	0.45803	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.84	4.64	0.57399	2.168000	0.42051	5.119000	0.47573	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.2469:0.7531	12.650	0.56115	552	0.72024	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1424.98	33	chr9	115063967	.	T	C	1424.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.960e-01;DP=820;ExcessHet=0.0000;FS=0.685;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.08;ReadPosRankSum=-1.395e+00;SOR=0.619	GT:AD:DP:GQ:PL	0/1:58,60:118:99:1439,0,1452	20	0	1	0
chr9	121142260	121142260	T	C	exonic	CNTRL	.	nonsynonymous SNV	CNTRL:NM_001330762:exon8:c.T1205C:p.L402S	.	.	435	1067	20	0	0	20	0.00928505	.	.	711740	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.21	T	0.963	D	0.744	P	.	.	1.000	N	0.895	L	2.55	T	-1.080	T	0.034	T	0.292	3.849	19.55	5.49	2.086	3.826	14.757	0.077	.	0.0081	0.00499201	0.0083	0.0017	0.0063	0	0.0027	0.0108	0.0145	0.0100	0.0080594	1246	154602	rs148672807	0.0093	0.0093	0.0091	0.0095	0.0107	0.0092	0.0091	0.0102	0.0101	0.0012	0.0079	0.0032	2.527e-05	0.0023	0.0101	0.0103	0.0089	0.0107	0.0068	0.0068	0.0069	0.0067	0.0115	0.0064	0.0063	0.0099	0.0096	0.0021	0.0011	0.0088	0.0014	0.0002	0.0011	0.0068	0.0105	0.0076	0.0115	0.054	0.63226	T	0.015	0.72224	D	0.937	0.52445	P	0.559	0.49531	P	.	.	.	.	0.950942	0.37717	D	2.255	0.64187	M	2.55	0.13795	T	-0.87	0.43149	N	0.719	0.72120	-1.0801	0.07330	T	0.034	0.14552	T	9	0.0053949654	0.00118	T	.	.	.	0.077	0.22490	.	.	0.245101548738	0.24120	0.36758582996909256	0.36672	0.367394151013	0.38298	0.546920776367	0.45423	T	0.033155	0.25247	T	-0.489914	0.00650	T	-0.464828	0.26076	T	0.0206042897419058	0.00760	T	0.844715	0.53011	T	0.15042207	0.34244	0.18568857	0.41697	0.15042207	0.34243	0.18568857	0.41696	-5.843	0.50410	T	.	.	0.385	0.60351	A	.;.;.;.	.;.;.;.	4.257450	0.64674	24.7	0.99843809904993919	0.92403	0.95716	0.65851	D	AEFDGBI	0.392790	0.47069	N	0.362254186256515	0.59389	4.117966	0.425665204364704	0.63168	4.545375	0.999999990792229	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.49	5.49	0.81022	3.828000	0.55453	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:0.0:0.0:1.0	14.757	0.69189	964	0.07719	.;.;.;.	.	.	.	.	.	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	835.11	19	chr9	121142260	.	T	C	835.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.06;DP=581;ExcessHet=0.1072;FS=6.483;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=1.15;SOR=0.207	GT:AD:DP:GQ:PL	0/1:13,15:28:99:476,0,428	19	0	2	0
chr9	122724732	122724732	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T743C:p.V248A,	.	.	428	916	178	0	0	178	0.0885572	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.002	B	0.012	B	0.119	N	1.000	N	1.045	L	8.47	T	-0.981	T	0.000	T	0.241	-0.246	2.815	3.09	0.623	0.717	7.537	0.060	0.00143063714583	.	.	6.622e-05	0	0.0002	0.0001	0.0002	6.017e-05	0	0	3.84e-05	1	26028	rs748975619	0.0001	0.0021	7.836e-05	0.0002	0.0008	0.0001	0.0001	0.0003	0.0002	9.132e-05	0.0002	7.963e-05	0.0002	4.349e-05	0.0008	0.0002	0.0003	3.688e-05	0.0002	0.0017	0.0001	0.0002	0.0005	0.0001	8.825e-05	8.643e-05	4.843e-05	0.0001	0	0.0002	0	0.0002	0.0003	0	0.0001	0	0.0005	0.066	0.36113	T	0.063	0.45110	T	0.002	0.09854	B	0.012	0.16012	B	0.119040	0.19091	N	0.433255	1	0.08975	N	2.24	0.63355	M	8.47	0.00218	T	-3.71	0.70674	D	0.163	0.17140	-0.9813	0.34701	T	0.000	0.00152	T	10	0.08632538	0.14663	T	0.001431	0.02139	T	0.060	0.17295	.	.	0.380730819819	0.37686	0.050310918284802233	0.04974	0.137390497862	0.15494	0.204048782587	0.00584	T	0.018055	0.14619	T	-0.26113	0.12768	T	-0.612872	0.11753	T	0.0930222347378731	0.11572	T	0.328467	0.06836	T	0.12669528	0.29668	0.18975647	0.42339	0.12669528	0.29667	0.18975647	0.42339	-5.477	0.41653	T	.	.	0.162	0.35767	B	.	.	1.361823	0.17710	13.32	0.37116804741921844	0.02427	0.22928	0.21909	N	AEFGBI	0.092843	0.18792	N	-1.18873539693136	0.05170	0.2350358	-1.18788360110161	0.06111	0.2931782	0.00732444700759022	0.11439	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	3.09	0.34677	0.354000	0.19885	0.254000	0.16463	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.027000	0.12703	0.0:0.1836:0.0:0.8164	7.537	0.26888	889	0.27310	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	0	0	0	0	0.4286	10749.2	301	chr9	122724732	.	T	C	10749.2	.	AC=12;AF=0.429;AN=28;BaseQRankSum=8.60;DP=6952;ExcessHet=9.6308;FS=27.314;InbreedingCoeff=-0.5849;MLEAC=15;MLEAF=0.536;MQ=58.33;MQRankSum=-1.529e+01;QD=2.73;ReadPosRankSum=-7.300e+00;SOR=4.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,45:316:99:0|1:122724732_T_C:998,0,11112:122724732	2	0	12	7
chr9	122724738	122724738	T	C	exonic	OR1L4	.	nonsynonymous SNV	OR1L4:NM_001005235:exon1:c.T749C:p.V250A,	.	.	428	1012	82	0	0	82	0.0389364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.0	B	0.003	B	0.363	N	1.000	N	-0.46	N	0.93	T	-1.008	T	0.042	T	0.097	-1.802	0.009	-7.85	-1.692	-2.805	8.760	0.010	0.00138298223274	.	.	8.242e-06	0	0	0	0	1.499e-05	0	0	3.84e-05	1	26028	rs773750205	4.128e-06	0.0017	4.098e-06	4.158e-06	4.494e-05	1.49e-06	9.8e-07	7.45e-06	2.79e-06	2.995e-05	4.494e-05	0	2.533e-05	0	0	9.039e-07	1.665e-05	0	2.725e-05	0.0009	3.982e-05	1.4e-05	0.0002	8.37e-06	5.29e-06	.	.	2.5e-05	0	0	0	0	0.0002	0	0	0	0.0002	0.56	0.06381	T	0.334	0.18340	T	0.0	0.02946	B	0.003	0.08700	B	0.363490	0.04318	N	1.430160	1	0.08975	N	-0.355	0.03127	N	0.93	0.44065	T	0.28	0.04233	N	0.048	0.01999	-1.0082	0.27479	T	0.042	0.17994	T	10	0.027532607	0.00898	T	0.001383	0.02011	T	0.010	0.01040	.	.	0.146414634003	0.14194	0.029921180382566498	0.02941	0.133905216648	0.15082	0.228572815657	0.01864	T	0.008154	0.07505	T	-0.373075	0.03441	T	-0.773673	0.02649	T	0.0352781535904976	0.02857	T	0.0471953	0.00337	T	0.018524058	0.00374	0.028399432	0.01073	0.018524058	0.00374	0.028399432	0.01073	-3.488	0.16265	T	.	.	0.091	0.13127	B	.	.	-1.366501	0.00385	0.007	0.26517900806360473	0.01274	0.00656	0.02847	N	AEFGBI	0.051091	0.08994	N	-1.92157175688344	0.00310	0.01331125	-1.9879660246432	0.00325	0.01433726	0.679012312914238	0.22457	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.23	-7.85	0.01056	-3.495000	0.00503	-12.828000	0.00498	-1.735000	0.00709	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2704:0.1842:0.5455	8.760	0.33827	889	0.27310	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	0.3529	6434.01	290	chr9	122724738	.	T	C	6434.01	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.102;DP=5824;ExcessHet=9.6308;FS=29.363;InbreedingCoeff=-0.5013;MLEAC=14;MLEAF=0.412;MQ=58.45;MQRankSum=-1.685e+01;QD=1.74;ReadPosRankSum=-6.376e+00;SOR=6.544	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:265,36:301:99:0|1:122724732_T_C:714,0,11011:122724732	5	0	12	4
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|1:55,8,0:63:99:0|1:127707145_G_A:106,0,2134,270,2158,2429:127707145	3	0	11	1
chr9	127707149	127707149	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T118C:p.F40L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.957	D	0.799	P	0.000	N	1.000	D	2.175	M	1.01	T	-0.875	T	0.164	T	0.368	4.702	26.1	4.33	0.927	4.094	9.215	0.159	0.019678184343	.	.	8.323e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs757079161	0.0001	0.0036	0.0001	8.536e-05	0.0002	9.346e-05	8.764e-05	0.0001	9.824e-05	9.678e-05	0	0	2.569e-05	0	0	0.0001	5.349e-05	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.191	0.28391	T	0.957	0.54824	D	0.799	0.58136	P	0.000003	0.62929	N	0.105467	0.999583	0.47691	D	.	.	.	1.01	0.41058	T	-5.4	0.85103	D	0.489	0.52829	-0.8745	0.50188	T	0.164	0.50078	T	10	0.3438111	0.51386	T	0.019678	0.42104	T	0.159	0.41286	0.15	0.05339	0.612519348966	0.60940	0.6570251018140777	0.65639	0.875989159395	0.69568	.	.	.	0.327925	0.69838	T	-0.210031	0.19374	T	-0.357944	0.38290	T	0.938539505004883	0.60923	D	0.579842	0.20971	T	0.85248286	0.87520	0.67909664	0.81148	0.85248286	0.87521	0.67909664	0.81149	-9.512	0.72170	D	.	.	0.947	0.86617	P	.;.	.;.	4.218635	0.63791	24.6	0.99813715176146511	0.89708	0.79497	0.39404	D	AEFDGBCI	0.430877	0.49340	N	0.327399038086192	0.57559	3.923681	0.314456036050452	0.56389	3.802111	0.999999899276312	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	4.33	0.51083	4.073000	0.57290	3.987000	0.40955	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.929000	0.46594	0.0:0.0857:0.0:0.9143	9.215	0.36505	268	0.89479	.;.	.	.	.	.	.	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	0.25	1341.42	63	chr9	127707149	.	T	C	1341.42	.	AC=10;AF=0.250;AN=40;BaseQRankSum=-1.954e+00;DP=1423;ExcessHet=6.1002;FS=146.491;InbreedingCoeff=-0.3339;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.86;ReadPosRankSum=0.801;SOR=10.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,8:63:99:0|1:127707145_G_A:106,0,2134:127707145	10	0	10	1
chr9	127707150	127707150	T	C	exonic	CFAP157	.	nonsynonymous SNV	CFAP157:NM_001012502:exon1:c.T119C:p.F40S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	1.0	D	0.993	D	0.000	D	1.000	D	2.175	M	1.1	T	-0.776	T	0.227	T	0.925	4.505	24.2	5.46	2.075	5.688	13.490	0.321	0.0295012344328	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.025e-05	0.0013	2.604e-05	1.446e-05	3.126e-05	1.404e-05	1.209e-05	1.739e-05	1.477e-05	3.126e-05	0	0	0	0	0	2.5e-05	0	1.182e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.053	0.47336	T	1.0	0.90584	D	0.993	0.81110	D	0.000003	0.62929	D	0.105467	0.99989	0.50595	D	.	.	.	1.1	0.39050	T	-7.17	0.94145	D	0.892	0.90025	-0.7757	0.56542	T	0.227	0.59233	T	10	0.62868714	0.68391	D	0.029501	0.51995	D	0.321	0.64318	0.292	0.25400	0.617737460462	0.61464	0.8563961070607592	0.85602	1.09668489094	0.77603	.	.	.	0.333157	0.70304	T	0.256066	0.79166	D	0.130044	0.78896	D	0.995957314968109	0.88384	D	0.631737	0.24648	T	0.883188	0.89932	0.88241297	0.93731	0.883188	0.89933	0.88241297	0.93731	-12.272	0.88445	D	.	.	0.839	0.79209	P	.;.	.;.	4.916668	0.80938	27.4	0.99871547018832008	0.94902	0.88781	0.48875	D	AEFDGBCI	0.697108	0.65523	D	0.612068453635021	0.73938	6.048333	0.59676151836649	0.74706	6.182971	0.9999999998598	0.74766	0.497415	0.19182	0	0.59043	0.45803	0	0.587068	0.30358	0	0.645665	0.59343	0	.	.	5.46	5.46	0.80021	5.665000	0.67722	5.919000	0.51137	0.638000	0.52053	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	13.490	0.60843	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	0.2143	1185.39	50	chr9	127707150	.	T	C	1185.39	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-2.872e+00;DP=1368;ExcessHet=4.7172;FS=144.390;InbreedingCoeff=-0.2762;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.908;SOR=10.283	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:54,8:62:99:0|1:127707145_G_A:109,0,2109:127707145	12	0	9	0
chr9	128101182	128101182	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G348C:p.K116N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.32	T	0.881	P	0.593	P	0.000	D	1.000	D	2.355	M	0.89	T	-0.234	T	0.486	T	0.226	1.878	12.24	-1.27	-0.511	-0.489	13.159	0.278	0.115383419939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.17468	T	0.305	0.20486	T	0.881	0.48446	P	0.593	0.50536	P	0.000000	0.84330	D	0.087699	0.999999	0.81001	D	2.34	0.67151	M	0.89	0.80387	T	-2.66	0.59710	D	0.487	0.55886	-0.2337	0.76790	T	0.486	0.80441	T	10	0.16160071	0.30308	T	0.115383	0.79455	D	0.278	0.59497	0.591	0.71999	0.171220215726	0.16700	0.6806528368207055	0.68004	0.713815710114	0.61846	0.838614344597	0.87883	D	0.305529	0.67778	T	-0.0597631	0.42946	T	-0.323622	0.42176	T	0.529833555221558	0.33728	D	0.947505	0.80370	D	0.42320445	0.62304	0.32403204	0.58331	0.42320445	0.62305	0.32403204	0.58330	-7.747	0.73540	D	.	.	0.558	0.77574	A	.;.;.;.;.	.;.;.;.;.	1.452777	0.18743	13.90	0.98597571278657536	0.43454	0.27556	0.23311	N	AEFGBI	0.195335	0.32238	N	-0.694203406124448	0.16186	0.8224066	-0.713057584978373	0.16636	0.8809873	0.999932680091442	0.46732	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	-1.27	0.08863	-0.472000	0.06702	-0.668000	0.07948	-0.046000	0.17342	0.037000	0.20830	0.000000	0.08366	0.998000	0.85391	0.3502:0.0:0.6498:0.0	13.159	0.58953	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	77.14	127	chr9	128101182	.	G	C	77.14	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-5.161e+00;DP=1237;ExcessHet=0.6776;FS=115.371;InbreedingCoeff=-0.0994;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.18;ReadPosRankSum=1.27;SOR=9.022	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:33:0|1:128101182_G_C:33,0,2836:128101182	17	0	4	0
chr9	128101187	128101187	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G353C:p.R118T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.572	P	0.000	D	1.000	D	2.065	M	-0.7	T	-0.438	T	0.380	T	0.804	2.016	12.70	5.33	2.487	4.398	18.009	0.416	0.0420021043119	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.241	0.19225	T	0.369	0.16522	T	0.868	0.47740	P	0.572	0.49931	P	0.000000	0.84330	D	0.041945	0.999998	0.81001	D	2.215	0.62545	M	-0.7	0.72785	T	-2.41	0.54546	N	0.667	0.67736	-0.4377	0.70807	T	0.380	0.73692	T	10	0.5000973	0.61497	D	0.042002	0.60234	D	0.416	0.72631	0.61	0.74300	0.200294437569	0.19612	0.8142011479369076	0.81376	0.978056266541	0.73627	0.778474271297	0.78698	T	0.436539	0.78289	T	0.186908	0.72678	D	0.0307039	0.72323	D	0.797435283660889	0.46180	D	0.844516	0.79334	T	0.4251696	0.62434	0.347225	0.60379	0.4251696	0.62435	0.347225	0.60379	-8.202	0.67762	D	.	.	0.415	0.76696	A	.;.;.;.;.	.;.;.;.;.	4.561538	0.71881	25.7	0.93999598795195805	0.24094	0.96966	0.71921	D	AEFGBI	0.764155	0.70104	D	0.177338735965513	0.50112	3.204398	0.295564956828609	0.55281	3.691184	0.999999882866597	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	5.33	0.75683	4.489000	0.60035	11.899000	0.99301	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.009	0.89140	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	139.95	128	chr9	128101187	.	G	C	139.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.915e+00;DP=1519;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1057;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.34;ReadPosRankSum=0.933;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:33:0|1:128101182_G_C:33,0,2871:128101182	17	0	4	0
chr9	128101188	128101188	G	C	exonic	SLC25A25	.	nonsynonymous SNV	SLC25A25:NM_001006641:exon2:c.G354C:p.R118S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.868	P	0.494	P	0.000	D	1.000	D	2.41	M	-0.72	T	-0.592	T	0.312	T	0.766	2.552	14.49	2.45	1.235	0.510	8.422	0.565	0.0635115361609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0037	0.0001	0.0001	0.0002	9.968e-05	9.425e-05	0.0001	0.0001	0.0002	0	0	2.538e-05	0	0	0.0001	5.152e-05	5.882e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	0.23007	T	0.36	0.17014	T	0.868	0.47740	P	0.494	0.47478	P	0.000000	0.84330	D	0.041945	1	0.81001	D	2.27	0.64531	M	-0.72	0.72994	T	-2.2	0.50502	N	0.592	0.61172	-0.5924	0.65125	T	0.312	0.68220	T	10	0.42217892	0.56938	T	0.063512	0.68991	D	0.565	0.82232	0.611	0.74418	0.266724437049	0.26276	0.8208935264102138	0.82046	1.10394199327	0.77820	0.748741447926	0.74261	T	0.421327	0.77275	T	0.148143	0.69094	D	-0.02498	0.68702	D	0.774935901165009	0.44738	D	0.959804	0.85511	D	0.35418284	0.57390	0.3380839	0.59591	0.35418284	0.57391	0.3380839	0.59590	-7.65	0.62296	D	.	.	0.623	0.82606	P	.;.;.;.;.	.;.;.;.;.	3.414575	0.47383	22.4	0.99085328864255551	0.52075	0.94030	0.59902	D	AEFGBI	0.643967	0.62039	D	0.0999592402221534	0.46460	2.886059	0.114203922356772	0.45274	2.793509	0.999955091771372	0.48110	0.722319	0.85440	0	0.724815	0.89359	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.33	2.45	0.28953	0.535000	0.22822	2.384000	0.32503	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.999000	0.91618	0.3583:0.0:0.6417:0.0	8.422	0.31866	231	0.90996	.;.;.;.;EF-hand domain|EF-hand domain|EF-hand 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	0.09524	144.95	126	chr9	128101188	.	G	C	144.95	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-4.017e+00;DP=1773;ExcessHet=0.6776;FS=118.667;InbreedingCoeff=-0.1059;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.35;ReadPosRankSum=0.925;SOR=9.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,16:90:33:0|1:128101182_G_C:33,0,2871:128101182	17	0	4	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	1/1:0,109,0:109:99:3532,327,0,3532,327,3532	0	17	3	0
chr9	133568440	133568440	G	A	exonic	ADAMTSL2	.	nonsynonymous SNV	ADAMTSL2:NM_001145320:exon14:c.G2042A:p.R681Q	Geleophysic dysplasia 1, Autosomal recessive	.	0	1472	48	2	0	52	0.0173565	.	.	317572	Geleophysic_dysplasia_1|not_specified	MONDO:MONDO:0009269,MedGen:C3278147,OMIM:231050,Orphanet:2623|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.49	T	0.625	P	0.184	B	0.057	U	0.792	D	0.145	N	0.18	T	-1.018	T	0.071	T	0.185	0.824	8.321	2.33	1.823	4.848	5.737	0.115	0.0677937102145	.	.	.	.	.	.	.	.	.	.	0.0001423	22	154602	rs553955759	0.0026	0.0026	0.0021	0.0030	0.0155	0.0025	0.0025	0.0148	0.0145	0.0003	0.0018	0.0059	0	0.0005	0.0139	0.0017	0.0034	0.0155	0.0019	0.0019	0.0018	0.0021	0.0157	0.0017	0.0017	0.0129	0.0118	0.0003	0.0154	0.0016	0.0049	0	0.0004	0.0068	0.0020	0.0033	0.0157	0.656	0.04757	T	0.173	0.30926	T	0.153	0.28093	B	0.046	0.24676	B	0.056906	0.22522	U	0.383809	0.791671	0.34394	D	-0.315	0.03579	N	0.18	0.60361	T	0.06	0.07444	N	0.253	0.30574	-1.0182	0.24301	T	0.071	0.28839	T	10	0.015201479	0.00319	T	0.067794	0.70268	D	0.115	0.32236	0.458	0.52427	0.524114710501	0.52058	0.24345535029889892	0.24259	0.615439663432	0.56025	0.431416332722	0.29402	T	0.010579	0.09538	T	-0.151241	0.28116	T	-0.455024	0.27144	T	0.846595525741577	0.49875	D	0.939106	0.77081	D	0.046599776	0.07827	0.04282447	0.05189	0.046599776	0.07827	0.04282447	0.05189	-7.067	0.54522	T	.	.	0.070	0.05535	B	.;.;.	.;.;.	4.219439	0.63804	24.6	0.98661567374471526	0.44345	0.70643	0.34675	D	AEFBI	0.216493	0.34173	N	-0.384201033348936	0.26032	1.417627	-0.30350875060374	0.27986	1.556885	0.00216984613625388	0.09203	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.25	2.33	0.27981	4.335000	0.59081	5.393000	0.48489	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.2674:0.0:0.7326:0.0	5.737	0.17339	779	0.47767	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	2538.98	33	chr9	133568440	.	G	A	2538.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.160e-01;DP=981;ExcessHet=0.0000;FS=4.282;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.72;ReadPosRankSum=0.520;SOR=1.015	GT:AD:DP:GQ:PL	0/1:80,105:185:99:2553,0,1841	20	0	1	0
chr9	135702317	135702317	G	C	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon1:c.G59C:p.G20A	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	.	9	1437	72	4	0	80	0.0270819	.	.	134812	Inborn_genetic_diseases|Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.95	T	0.0	B	0.0	B	.	.	0.998	N	0	N	2.04	T	-0.967	T	0.010	T	0.058	-0.083	3.593	0.96	0.344	0.218	6.007	0.048	.	0.0052	0.00479233	0.0066	0.0012	0.0029	0.0017	0.0003	0.0073	0.0085	0.0144	0.0056985	881	154602	rs146292575	0.0081	0.0081	0.0079	0.0084	0.0298	0.0080	0.0080	0.0261	0.0247	0.0017	0.0036	0.0155	0.0145	0.0003	0.0298	0.0079	0.0079	0.0147	0.0052	0.0052	0.0051	0.0053	0.0162	0.0049	0.0048	0.0133	0.0122	0.0012	0.0099	0.0046	0.0150	0.0037	0.0004	0.0340	0.0072	0.0052	0.0162	0.332	0.13045	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.999999	0.08975	N	.	.	.	2.04	0.21119	T	-0.95	0.25332	N	0.149	0.18103	-0.9665	0.37914	T	0.010	0.03627	T	9	0.0032934844	0.00057	T	.	.	.	0.048	0.13305	.	.	0.0297737177859	0.01360	0.08820121728783718	0.08753	0.681807175389	0.60070	0.618645429611	0.55538	T	.	.	.	-0.703364	0.00035	T	-0.770786	0.02742	T	0.00255485869689805	0.00027	T	0.507849	0.16117	T	.	.	.	.	.	.	.	.	-3.531	0.17756	T	.	.	0.077	0.10691	B	.;.;.	.;.;.	0.467947	0.08376	5.129	0.72169361813330213	0.09880	0.03696	0.08973	N	AEFDGBCI	0.030864	0.03186	N	-1.24565565112622	0.04357	0.1964937	-1.26783242703793	0.04872	0.2308777	0.999982603703969	0.51787	0.525926	0.21836	0	0.615948	0.52940	0	0.606814	0.37721	0	0.691587	0.68394	0	.	.	1.9	0.96	0.18753	-0.571000	0.05979	-0.124000	0.11690	0.671000	0.69459	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4195:0.5805:0.0	6.007	0.18781	671	0.60868	.;.;.	.	.	.	.	.	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	0.07143	6633.68	34	chr9	135702317	.	G	C	6633.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-8.320e-01;DP=1226;ExcessHet=0.3300;FS=1.104;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.01;ReadPosRankSum=0.420;SOR=0.624	GT:AD:DP:GQ:PL	0/1:77,91:168:99:2140,0,1768	18	0	3	0
chr9	136254760	136254760	G	T	exonic	CCDC187	.	nonsynonymous SNV	CCDC187:NM_001378188:exon26:c.C5068A:p.P1690T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12900689	0.24544	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426357	0.11459	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20508	B	.	.	0.747834	0.11172	7.812	0.90267789298890422	0.19537	0.15443	0.18914	N	AEFDGBHCI	.	.	.	.	.	.	.	.	.	0.999996737566119	0.74766	0.056701	0.00814	0	0.063554	0.01753	0	0.074216	0.02223	0	0.079188	0.02158	0	0.0938298	0.21136	1.76	1.76	0.23776	0.452000	0.21508	0.797000	0.21623	0.676000	0.76740	0.000000	0.06391	0.026000	0.21063	0.034000	0.13613	0.0:0.0:1.0:0.0	6.994	0.23951	778	0.48011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	35.75	114	chr9	136254760	.	G	T	35.75	.	AC=2;AF=0.083;AN=24;DP=114;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3931;MLEAC=2;MLEAF=0.083;MQ=60.00;QD=17.87;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	9
chr9	136840172	136840172	C	T	exonic	RABL6	.	nonsynonymous SNV	RABL6:NM_001173988:exon14:c.C1952T:p.P651L	.	.	0	1476	45	1	0	47	0.0156719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.008	B	0.01	B	0.064	N	0.893	N	1.935	M	0.01	T	-0.758	T	0.180	T	0.259	0.490	6.658	1.71	0.655	-0.034	5.636	0.057	.	0.0004	0.00599042	0.0042	0	0.0006	0	0	0.0011	0.0045	0.0254	0.0035705	552	154602	rs199511338	0.0023	0.0023	0.0015	0.0031	0.0267	0.0022	0.0022	0.0258	0.0254	0.0003	0.0005	0.0057	0	0	0.0038	0.0006	0.0030	0.0267	0.0014	0.0014	0.0009	0.0019	0.0257	0.0012	0.0012	0.0220	0.0207	2.412e-05	0	0.0005	0.0066	0	0	0.0102	0.0008	0.0009	0.0257	0.007	0.59928	D	0.026	0.55759	D	0.001	0.07471	B	0.001	0.06944	B	0.064161	0.21971	N	0.423315	0.893033	0.35995	D	1.645	0.42016	L	0.01	0.62459	T	-2.55	0.55181	D	0.141	0.14054	-0.7581	0.57508	T	0.180	0.52675	T	10	0.0036263168	0.00066	T	.	.	.	0.057	0.16321	.	.	0.20808081866	0.20439	0.020223135927298633	0.01975	0.00750058978399	0.00664	0.402918636799	0.25476	T	0.043344	0.26471	T	-0.441868	0.01261	T	-0.387892	0.34798	T	0.04071892717541	0.03822	T	0.70313	0.31322	T	0.06495735	0.13833	0.05147259	0.08289	0.06495735	0.13833	0.05147259	0.08289	-5.608	0.42865	T	.	.	0.066	0.03736	B	.;.	.;.	1.069927	0.14522	11.09	0.67009078154901069	0.08227	0.04785	0.10499	N	AEFDGBCI	0.064069	0.12420	N	-0.99731808221562	0.08661	0.4069295	-1.09121208782059	0.07872	0.3847027	0.999999947468259	0.74766	0.741868	0.97996	0	0.643519	0.57511	0	0.774882	0.98623	0	0.711	0.71501	0	.	.	2.62	1.71	0.23429	0.138000	0.15838	1.233000	0.25056	-0.278000	0.06506	0.000000	0.06391	0.001000	0.17328	0.071000	0.16709	0.0:0.8436:0.0:0.1564	5.636	0.16817	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	1479.98	35	chr9	136840172	.	C	T	1479.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.433;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.96;ReadPosRankSum=-2.000e-03;SOR=0.675	GT:AD:DP:GQ:PL	0/1:75,60:135:99:1494,0,2011	20	0	1	0
chr9	137189882	137189882	G	A	exonic	SSNA1	.	nonsynonymous SNV	SSNA1:NM_003731:exon3:c.G328A:p.D110N,	.	.	423	1091	8	0	0	8	0.00365297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.187	B	0.035	B	0.152	N	0.939	D	0.895	L	.	.	-1.018	T	0.095	T	0.052	3.376	17.38	3.41	1.746	5.701	10.190	0.225	0.00636938222477	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1340989423	6.842e-06	6.84e-06	2.723e-06	1.1e-05	0.0002	3.46e-06	2.52e-06	1.94e-06	1.28e-06	2.987e-05	0	0	0	0	0.0002	5.396e-06	3.312e-05	0	1.313e-05	1.313e-05	1.284e-05	1.344e-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	0.168	0.23007	T	0.352	0.19188	T	0.187	0.29285	B	0.035	0.22741	B	0.151713	0.17946	N	0.550036	0.939341	0.37257	D	1.245	0.31408	L	.	.	.	0.23	0.04613	N	0.148	0.15046	-1.0178	0.24431	T	0.095	0.35897	T	9	0.13579977	0.25840	T	0.006369	0.16754	T	0.225	0.52323	0.106	0.01810	0.219573609325	0.21563	0.23601147270389553	0.23516	0.622957177787	0.56534	0.429586946964	0.29151	T	0.058656	0.30901	T	-0.369603	0.03614	T	-0.586539	0.13967	T	0.418257862329483	0.29626	T	0.787021	0.44372	T	0.0647341	0.13765	0.067478575	0.13964	0.0647341	0.13764	0.067478575	0.13963	-3.707	0.19422	T	.	.	0.095	0.18663	B	.;.	.;.	3.554655	0.49988	22.9	0.99507870664332621	0.68440	0.75070	0.36741	D	AEFGBCI	0.533339	0.55283	D	-0.330196928883723	0.28006	1.541203	-0.222023231182195	0.30748	1.733969	0.999999996927194	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	3.41	3.41	0.38145	4.273000	0.58711	9.801000	0.81695	0.618000	0.50648	0.986000	0.36153	1.000000	0.68203	0.959000	0.51448	0.0:0.0:1.0:0.0	10.190	0.42197	994	0.00715	.;.	.	.	.	.	.	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	689.98	39	chr9	137189882	.	G	A	689.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.000e-01;DP=761;ExcessHet=0.0000;FS=2.040;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.45;ReadPosRankSum=0.819;SOR=1.081	GT:AD:DP:GQ:PL	0/1:43,30:73:99:704,0,1230	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	0/1:98,34:132:99:100,0,1842	5	0	16	0
chr10	5373919	5373919	G	A	exonic	UCN3	.	nonsynonymous SNV	UCN3:NM_053049:exon2:c.G199A:p.A67T,	.	.	430	1090	2	0	0	2	0.00091659	.	.	2397400	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.67	T	0.0	B	0.0	B	0.074	N	1.000	N	0.895	L	1.5	T	-0.997	T	0.040	T	0.06	-0.222	2.925	2.17	0.179	0.142	5.227	0.025	0.00359875250849	.	.	3.568e-05	0	9.386e-05	0	0	4.872e-05	0	0	3.23e-05	5	154602	rs782001501	0.0001	0.0001	0.0001	9.767e-05	0.0005	9.539e-05	9.02e-05	0.0001	9.075e-05	2.989e-05	0.0002	3.828e-05	2.52e-05	0	0.0005	0.0001	0.0002	6.962e-05	7.232e-05	7.224e-05	5.141e-05	9.42e-05	0.0001	3.973e-05	3.129e-05	7.908e-05	5.994e-05	0	0	6.548e-05	0	0	0	0	0.0001	0	0	0.468	0.08534	T	0.677	0.06166	T	0.0	0.02946	B	0.0	0.01387	B	0.073927	0.21315	N	0.483859	1	0.08975	N	0	0.06538	N	1.5	0.31205	T	-0.27	0.11366	N	0.047	0.01911	-0.9972	0.30701	T	0.040	0.17106	T	10	0.02957955	0.01084	T	0.003599	0.08247	T	0.025	0.05312	.	.	0.0675242888579	0.06100	0.09599184953062669	0.09531	0.0409305257742	0.04391	0.232528716326	0.02161	T	0.122587	0.44636	T	-0.589451	0.00169	T	-0.786923	0.02251	T	0.0133587229987075	0.00241	T	0.347965	0.07682	T	0.019849773	0.00525	0.034473144	0.02522	0.019849773	0.00525	0.034473144	0.02521	-3.702	0.19348	T	.	.	0.069	0.02993	B	.	.	-0.088226	0.03712	0.760	0.78012086062079111	0.12118	0.13776	0.18046	N	AEFDI	0.138921	0.26036	N	-1.40856037459685	0.02563	0.1133445	-1.38236877433259	0.03439	0.1604508	0.0393969161788483	0.14392	0.487112	0.14033	0	0.573888	0.26702	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.02	2.17	0.26736	-0.080000	0.11303	0.185000	0.15676	-1.966000	0.00472	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.145:0.6279:0.1453:0.0818	5.227	0.14719	969	0.06854	.	.	.	.	.	.	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	1266.98	33	chr10	5373919	.	G	A	1266.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.400e-02;DP=784;ExcessHet=0.0000;FS=14.027;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.40;ReadPosRankSum=0.414;SOR=0.137	GT:AD:DP:GQ:PL	0/1:41,47:88:99:1281,0,1090	20	0	1	0
chr10	14774379	14774379	G	C	exonic	FAM107B	.	nonsynonymous SNV	FAM107B:NM_031453:exon1:c.C285G:p.H95Q,	.	.	435	1053	30	4	0	38	0.0177239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.039	B	0.025	B	0.409	N	0.946	N	0.345	N	0.95	T	-1.044	T	0.034	T	0.05	0.347	5.881	-1.32	-0.429	-0.044	0.470	0.096	.	0.0052	0.00499201	0.0078	0.0024	0.0060	0.0002	0.0042	0.0099	0.0143	0.0090	0.0074579	1153	154602	rs144131218	0.0071	0.0071	0.0071	0.0072	0.0257	0.0070	0.0070	0.0223	0.0210	0.0026	0.0057	0.0210	5.038e-05	0.0051	0.0257	0.0071	0.0088	0.0088	0.0058	0.0058	0.0057	0.0058	0.0077	0.0054	0.0053	0.0069	0.0067	0.0021	0.0066	0.0063	0.0176	0.0004	0.0046	0.0306	0.0075	0.0099	0.0077	0.01	0.56456	D	0.013	0.63109	D	0.039	0.21116	B	0.025	0.20508	B	0.409184	0.13020	N	0.659654	1	0.08975	N	.	.	.	0.95	0.43279	T	-0.34	0.12661	N	0.089	0.06720	-1.0440	0.16118	T	0.034	0.14552	T	10	0.0039682686	0.00076	T	.	.	.	0.096	0.27654	0.069	0.00373	0.0401082797425	0.02173	0.045393378275196114	0.04483	0.137498292665	0.15505	0.269615024328	0.06091	T	.	.	.	-0.661509	0.00061	T	-0.716307	0.04976	T	0.00527193897329937	0.00057	T	0.29867	0.05569	T	.	.	.	.	.	.	.	.	-2.665	0.07014	T	.	.	0.093	0.14015	B	.	.	0.433597	0.08038	4.760	0.46671962577178489	0.03756	0.10494	0.15985	N	AEFBI	0.085575	0.17348	N	-1.29361667126291	0.03751	0.1681429	-1.30599892829859	0.04352	0.2050923	1.49545221312901E-5	0.02871	0.446893	0.09132	0	0.563428	0.19063	0	0.573078	0.19857	0	0.613276	0.41899	0	.	.	5.23	-1.32	0.08721	-0.031000	0.12237	1.301000	0.25475	-0.818000	0.02990	0.193000	0.24225	0.898000	0.27928	0.001000	0.02609	0.3458:0.1249:0.2687:0.2606	0.470	0.00494	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	0.02381	2307.98	33	chr10	14774379	.	G	C	2307.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.53;DP=890;ExcessHet=0.0000;FS=1.720;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.20;ReadPosRankSum=0.788;SOR=0.855	GT:AD:DP:GQ:PL	0/1:116,90:206:99:2322,0,3020	20	0	1	0
chr10	23440245	23440245	C	T	exonic	OTUD1	.	nonsynonymous SNV	OTUD1:NM_001145373:exon1:c.C788T:p.P263L,	.	.	203	1312	6	1	0	8	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.209	B	0.021	B	.	.	1.000	N	0.805	L	.	.	-1.050	T	0.067	T	0.035	2.316	13.70	1.85	0.201	-0.484	8.709	0.012	0.0112794055545	.	.	0.0028	0	0	0	0	0.0015	0	0.0040	0.000207	32	154602	rs749645076	0.0004	0.0004	0.0003	0.0005	0.0061	0.0004	0.0004	0.0045	0.0039	3.185e-05	5.652e-05	0.0010	0	0	0.0061	0.0002	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0027	0.0002	0.0002	0.0016	0.0013	0	0	0	0.0017	0	0	0.0068	0.0004	0.0009	0.0027	0.192	0.20988	T	0.006	0.70582	D	0.209	0.29944	B	0.021	0.19346	B	.	.	.	.	0.999999	0.08975	N	0.695	0.17993	N	.	.	.	-1.9	0.44284	N	0.069	0.04188	-1.0496	0.14509	T	0.067	0.27708	T	8	0.0053355694	0.00117	T	0.011279	0.28743	T	0.012	0.01476	.	.	0.119812018005	0.11559	0.36097602261842837	0.36011	.	.	0.765099704266	0.76690	T	0.075149	0.35109	T	-0.648682	0.00074	T	-0.706984	0.05452	T	0.0207162377783938	0.00771	T	0.616438	0.23595	T	0.028851649	0.02286	0.054752514	0.09475	0.028851649	0.02285	0.054752514	0.09475	-5.011	0.36959	T	.	.	0.086	0.10883	B	.	.	0.766679	0.11363	7.981	0.92806038057374018	0.22330	0.04158	0.09649	N	AEFDBCIJ	0.021733	0.01002	N	-1.04791246307044	0.07628	0.3550172	-1.10232399593424	0.07656	0.3732527	0.99999959753848	0.74766	0.443343	0.08805	1	0.56911	0.20461	1	0.666236	0.60216	0	0.404113	0.06833	1	.	.	3.74	1.85	0.24418	-0.570000	0.05986	0.475000	0.18750	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8028:0.0:0.1972	8.709	0.33533	921	0.19240	.	.	.	.	.	.	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	939.98	36	chr10	23440245	.	C	T	939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.614;DP=816;ExcessHet=0.0000;FS=1.097;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.41;ReadPosRankSum=-3.190e-01;SOR=0.488	GT:AD:DP:GQ:PL	0/1:28,33:61:99:954,0,797	20	0	1	0
chr10	27240384	27240384	G	A	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001271512:exon1:c.C110T:p.T37M	.	.	420	1078	23	1	0	25	0.0114626	.	.	737443	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.927	D	0.005	N	1.000	D	0.895	L	2.4	T	-0.990	T	0.108	T	0.256	4.605	25.1	4.87	2.402	4.454	18.381	0.135	.	0.0007	0.00159744	0.0034	0.0003	0.0007	0.0002	0.0060	0.0024	0.0088	0.0114	0.002846	440	154602	rs41282238	0.0019	0.0019	0.0016	0.0023	0.0112	0.0019	0.0018	0.0106	0.0104	0.0002	0.0004	0.0061	7.557e-05	0.0058	0.0066	0.0010	0.0024	0.0112	0.0018	0.0018	0.0014	0.0023	0.0116	0.0016	0.0016	0.0092	0.0083	0.0002	0.0219	0.0002	0.0046	0.0002	0.0063	0.0068	0.0015	0.0029	0.0116	0.005	0.68238	D	0.016	0.60972	D	1.0	0.90584	D	0.927	0.66185	D	0.004502	0.33669	N	0.360028	0.994384	0.81001	D	0.805	0.20218	L	2.4	0.25509	T	-1.48	0.37566	N	0.312	0.35194	-0.9898	0.32652	T	0.108	0.39075	T	10	0.00437513	0.00089	T	.	.	.	0.135	0.36572	.	.	0.532311620844	0.52880	0.24715788570884184	0.24629	2.30488031714	0.96506	0.489432364702	0.37359	T	0.014439	0.15105	T	-0.460292	0.00979	T	-0.423566	0.30667	T	0.0278995960609738	0.01674	T	0.79912	0.73561	T	0.15304875	0.34711	0.31860933	0.57828	0.16137412	0.36141	0.24936178	0.50505	-6.309	0.49314	T	0.5477963200598464	0.61671	0.112	0.34361	B	.;.;.;.;.;.	.;.;.;.;.;.	3.974559	0.58384	24.0	0.99852887865356199	0.93191	0.88082	0.47856	D	AEFDGBHCI	0.672686	0.63900	D	0.492685321266477	0.66661	4.979143	0.506299029287174	0.68412	5.216603	1.0	0.98316	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	4.87	4.87	0.62877	4.171000	0.58029	5.662000	0.49222	0.618000	0.50648	1.000000	0.71638	0.996000	0.32793	0.989000	0.64315	0.0:0.0:1.0:0.0	18.381	0.90395	693	0.58582	.;.;.;.;.;.	.	.	.	.	.	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	3698.11	33	chr10	27240384	.	G	A	3698.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1006;ExcessHet=0.1072;FS=5.119;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.85;ReadPosRankSum=1.97;SOR=0.962	GT:AD:DP:GQ:PL	0/1:76,88:164:99:2187,0,1663	19	0	2	0
chr10	42791631	42791631	C	T	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon6:c.C641T:p.A214V,	.	.	430	1091	1	0	0	1	0.000458085	.	.	737476	BMS1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	1.0	D	0.999	D	0.000	D	1.000	D	2.8	M	2.74	T	-0.944	T	0.090	T	0.733	4.342	22.8	4.75	1.383	7.643	16.700	0.367	.	0.0011	.	0.0042	0.0087	0.0122	0.0171	0	0.0005	0.0022	0.0061	0.0033635	520	154602	rs141772670	0.0008	0.0018	0.0007	0.0008	0.0063	0.0007	0.0007	0.0056	0.0054	0.0027	0.0046	3.912e-05	0.0063	0	0.0007	0.0002	0.0017	0.0030	0.0013	0.0035	0.0012	0.0013	0.0053	0.0011	0.0011	0.0038	0.0032	0.0025	0	0.0015	0	0.0053	0	0	0.0004	0.0014	0.0021	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.047547	0.999997	0.58761	D	4.09	0.97262	H	2.74	0.11730	T	-3.89	0.72820	D	0.775	0.77226	-0.9441	0.41960	T	0.090	0.34436	T	10	0.015581638	0.00327	T	.	.	.	0.367	0.68670	.	.	0.618572585081	0.61548	0.7696799581294451	0.76916	0.493807849893	0.47971	0.812010228634	0.83800	D	0.214248	0.57578	T	0.0951744	0.63767	D	-0.101065	0.63315	T	0.11272264005044	0.13704	T	0.986001	0.95258	D	0.7780009	0.82532	0.6667761	0.80458	0.7780009	0.82533	0.6667761	0.80459	-11.33	0.81437	D	.	.	0.976	0.90412	P	.	.	4.789976	0.77721	26.8	0.99853631651262553	0.93279	0.99126	0.91608	D	AEFBI	0.795434	0.72285	D	0.586561923967927	0.72336	5.789575	0.529991387963047	0.70019	5.443805	0.999102851945407	0.38452	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.66	4.75	0.59954	7.736000	0.83883	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.707000	0.34357	0.0:0.8704:0.1296:0.0	16.700	0.85205	867	0.32089	Bms1/Tsr1-type G domain|Ribosome biogenesis protein Bms1, N-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	144.98	33	chr10	42791631	.	C	T	144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.208e+00;DP=665;ExcessHet=0.0000;FS=3.938;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.13;MQRankSum=-2.484e+00;QD=3.92;ReadPosRankSum=-5.140e-01;SOR=0.174	GT:AD:DP:GQ:PL	0/1:28,9:37:99:159,0,894	20	0	1	0
chr10	42791727	42791727	C	T	exonic	BMS1	.	nonsynonymous SNV	BMS1:NM_014753:exon6:c.C737T:p.P246L,	.	.	419	1101	2	0	0	2	0.000907441	.	.	3211187	BMS1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	1.0	D	0.995	D	0.000	D	1.000	D	2.655	M	0.97	T	-0.655	T	0.180	T	0.762	5.057	30	5.53	2.610	7.643	19.534	0.460	.	0.0005	.	0.0044	0.0087	0.0129	0.0168	0	0.0006	0.0033	0.0062	0.0004226	11	26028	rs116522292	0.0008	0.0019	0.0008	0.0009	0.0065	0.0008	0.0008	0.0058	0.0056	0.0028	0.0063	0	0.0065	0	0.0005	0.0002	0.0015	0.0030	0.0020	0.0041	0.0020	0.0021	0.0090	0.0019	0.0018	0.0070	0.0062	0.0042	0	0.0025	0	0.0090	0	0	0.0005	0.0019	0.0029	0.011	0.55530	D	0.003	0.76473	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.005	0.85968	M	0.97	0.42502	T	-8.92	0.97954	D	0.812	0.80767	-0.6550	0.62495	T	0.180	0.52613	T	10	0.020526499	0.00474	T	.	.	.	0.460	0.75755	.	.	0.641294074137	0.63833	0.7337855777773842	0.73323	0.500006642151	0.48426	0.759230256081	0.75815	T	0.270363	0.64263	T	-0.207725	0.19702	T	-0.0688247	0.65710	T	0.0768609274110822	0.09581	T	0.989301	0.96450	D	0.72395235	0.79382	0.7479536	0.85102	0.72395235	0.79383	0.7479536	0.85103	-11.611	0.82905	D	.	.	0.698	0.72865	P	.	.	5.269782	0.88488	29.6	0.9985603527263347	0.93458	0.98730	0.86119	D	AEFBI	0.836794	0.75451	D	0.852616661326089	0.89258	9.897958	0.822613090829808	0.91318	10.82731	0.999999997628374	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	7.736000	0.83883	.	.	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	19.534	0.95235	867	0.32089	AARP2CN|Bms1/Tsr1-type G domain|AARP2CN|Ribosome biogenesis protein Bms1, N-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	166.98	33	chr10	42791727	.	C	T	166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.060e-01;DP=743;ExcessHet=0.0000;FS=1.199;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.40;MQRankSum=-5.079e+00;QD=2.57;ReadPosRankSum=0.418;SOR=0.717	GT:AD:DP:GQ:PL	0/1:52,13:65:99:181,0,1382	20	0	1	0
chr10	43617343	43617346	AAAG	-	exonic	ZNF485	.	frameshift deletion	ZNF485:NM_001318143:exon3:c.1027_1030del:p.R345Pfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.577e-05	0	0	0.0001	0	0	0	0.0003	2.59e-05	4	154602	rs776980833	1.703e-05	1.847e-05	1.966e-05	1.434e-05	0.0002	1.152e-05	9.68e-06	9.024e-05	7.067e-05	0	0	0	0	0	0	1.008e-05	1.725e-05	0.0002	6.572e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	837.94	35	chr10	43617342	.	TAAAG	T	837.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=813;ExcessHet=0.0000;FS=2.687;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.22;ReadPosRankSum=2.25;SOR=1.195	GT:AD:DP:GQ:PL	0/1:24,22:46:99:852,0,938	20	0	1	0
chr10	45769584	45769584	A	G	exonic	WASHC2C	.	nonsynonymous SNV	WASHC2C:NM_001367404:exon18:c.A1846G:p.K616E	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	0.0	B	0.001	B	0.014	N	0.998	N	-0.895	N	.	.	-0.980	T	0.021	T	0.088	0.321	5.738	2.37	0.234	1.585	5.901	0.010	0.00117281335192	.	0.00119808	.	.	.	.	.	.	.	.	0.0009989	26	26028	rs373466053	0.0003	0.0009	0.0003	0.0003	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0.0010	0.0006	0.0004	3.763e-05	0	0.0002	0.0005	0.0003	0.0021	0.0052	0.0021	0.0020	0.0040	0.0019	0.0018	0.0032	0.0029	0.0031	0	0.0040	0.0024	0.0018	9.653e-05	0	0.0015	0.0010	0.0006	0.502	0.14694	T	0.371	0.22627	T	.	.	.	.	.	.	0.013995	0.28669	N	0.382886	1	0.08975	N	.	.	.	.	.	.	1.65	0.00613	N	0.111	0.15328	-0.9800	0.35002	T	0.021	0.08778	T	9	0.015229255	0.00320	T	0.001173	0.01484	T	0.010	0.01040	.	.	0.0611884634855	0.05136	0.015808045881120773	0.01536	.	.	0.406482577324	0.25970	T	0.005229	0.04677	T	-0.514199	0.00475	T	-0.618903	0.11272	T	0.00788461084807475	0.00093	T	0.163984	0.04475	T	0.04777472	0.08221	0.04970252	0.07649	0.04777472	0.08221	0.04970252	0.07649	-1.542	0.02198	T	.	.	0.046	0.00496	B	.;.;.;.;.;.	.;.;.;.;.;.	2.179834	0.27787	17.58	0.97387548998575335	0.33706	0.00429	0.02107	N	AEFI	0.013791	0.00196	N	-1.11112314972897	0.06444	0.2966682	-0.986961355819167	0.10077	0.5053176	1.78034075801002E-5	0.02871	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	3.29	2.37	0.28337	1.855000	0.39018	5.075000	0.47214	-0.229000	0.07765	0.985000	0.35982	1.000000	0.68203	0.453000	0.27962	0.256:0.0:0.744:0.0	5.901	0.18210	766	0.49742	.;.;.;.;.;.	.	.	.	.	.	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	372.98	36	chr10	45769584	.	A	G	372.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.10;DP=845;ExcessHet=0.0000;FS=35.890;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.51;MQRankSum=-7.542e+00;QD=2.63;ReadPosRankSum=-2.841e+00;SOR=3.854	GT:AD:DP:GQ:PL	0/1:116,26:142:99:387,0,3086	20	0	1	0
chr10	46010437	46010437	G	A	exonic	NCOA4	.	nonsynonymous SNV	NCOA4:NM_001145262:exon8:c.C1484T:p.S495L	.	.	8	1510	4	0	0	4	0.00132275	.	.	723950	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	N	1.000	A	.	.	.	.	.	.	.	.	.	6.139	37	6.16	2.937	3.625	16.243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs142672975	0.0023	0.0023	0.0022	0.0023	0.0134	0.0022	0.0022	0.0125	0.0121	0.0003	0.0107	0.0055	0.0134	9.36e-05	0.0005	0.0012	0.0043	0.0064	0.0023	0.0023	0.0023	0.0022	0.0189	0.0021	0.0020	0.0159	0.0147	0.0005	0	0.0047	0.0066	0.0189	0	0	0.0012	0.0024	0.0083	.	.	.	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.46	0.32238	T	.	.	.	0.384	0.52829	.	.	.	.	.	.	.	0.014239132	0.00300	T	.	.	.	.	.	.	.	.	.	0.7078631890691698	0.70728	.	.	.	.	.	0.37216	0.73640	T	.	.	.	.	.	.	.	.	.	0.824218	0.51512	T	.	.	.	.	.	.	.	.	-6.465	0.51697	T	.	.	0.087	0.13876	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.006117	0.59070	24.1	.	.	.	.	.	.	0.804552	0.72938	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.316000	0.65599	11.774000	0.95935	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	.	.	.	544	0.72685	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	857.98	40	chr10	46010437	.	G	A	857.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.736;DP=762;ExcessHet=0.0000;FS=6.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-1.040e+00;SOR=1.396	GT:AD:DP:GQ:PL	0/1:39,34:73:99:872,0,999	20	0	1	0
chr10	46010599	46010599	C	T	exonic	NCOA4	.	nonsynonymous SNV	NCOA4:NM_001145262:exon8:c.G1322A:p.G441E	.	.	9	1509	4	0	0	4	0.00132363	.	.	723951	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.999	D	0.000	D	1.000	D	2.295	M	-0.02	T	-0.186	T	0.456	T	0.639	4.469	23.9	5.6	2.647	9.300	19.608	0.396	0.0149145007315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs146205784	0.0024	0.0024	0.0023	0.0024	0.0135	0.0023	0.0023	0.0125	0.0121	0.0099	0.0112	7.652e-05	0.0135	0	0.0021	0.0011	0.0045	0.0064	0.0047	0.0048	0.0049	0.0046	0.0189	0.0044	0.0043	0.0159	0.0147	0.0100	0	0.0055	0	0.0189	0	0	0.0011	0.0033	0.0083	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.01	0.62762	T	.	.	.	0.747	0.81261	.	.	.	.	.	.	.	0.1420131	0.26978	T	.	.	.	.	.	.	.	.	.	0.8665763029746564	0.86622	.	.	.	.	.	0.525365	0.83477	D	.	.	.	.	.	.	.	.	.	0.947605	0.79780	D	.	.	.	.	.	.	.	.	-2.165	0.04249	T	.	.	0.840	0.82782	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.875479	0.56290	23.7	.	.	.	.	.	.	0.947421	0.95796	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.664000	0.67715	5.932000	0.51336	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	.	.	.	544	0.72685	.;.;.;.;.;.;.	.	.	.	.	.	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	1083.98	40	chr10	46010599	.	C	T	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.478;DP=774;ExcessHet=0.0000;FS=5.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.38;ReadPosRankSum=-1.650e-01;SOR=1.385	GT:AD:DP:GQ:PL	0/1:40,41:81:99:1098,0,1082	20	0	1	0
chr10	46011178	46011178	T	C	exonic	NCOA4	.	nonsynonymous SNV	NCOA4:NM_001145262:exon8:c.A743G:p.N248S	.	.	9	1508	5	0	0	5	0.00165508	.	.	723952	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.47	T	0.028	B	0.016	B	0.146	N	1.000	N	1.245	L	1.49	T	-1.003	T	0.085	T	0.083	0.772	8.081	-0.178	-0.278	0.142	6.171	0.040	0.00214094174632	.	.	.	.	.	.	.	.	.	.	.	.	.	rs117257055	0.0025	0.0026	0.0025	0.0026	0.0148	0.0024	0.0024	0.0138	0.0134	0.0101	0.0113	7.999e-05	0.0148	0.0004	0.0020	0.0013	0.0048	0.0064	0.0051	0.0051	0.0052	0.0050	0.0210	0.0048	0.0047	0.0178	0.0166	0.0102	0	0.0069	0	0.0210	0.0002	0	0.0012	0.0033	0.0083	.	.	.	0.729	0.05506	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.54	0.30133	T	.	.	.	0.025	0.00717	.	.	.	.	.	.	.	0.0031405091	0.00052	T	.	.	.	.	.	.	.	.	.	0.07201057075622232	0.07138	.	.	.	.	.	0.030708	0.21706	T	.	.	.	.	.	.	.	.	.	0.313569	0.06164	T	.	.	.	.	.	.	.	.	-2.326	0.04935	T	.	.	0.045	0.00050	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-0.513265	0.01825	0.144	.	.	.	.	.	.	0.098707	0.19884	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.113000	0.10745	-1.263000	0.05873	-0.854000	0.02687	0.285000	0.25187	0.000000	0.08366	0.930000	0.46718	.	.	.	545	0.72614	Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;Nuclear coactivator;.;.	.	.	.	.	.	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	2743.98	40	chr10	46011178	.	T	C	2743.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.223;DP=879;ExcessHet=0.0000;FS=2.572;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.60;ReadPosRankSum=2.82;SOR=0.515	GT:AD:DP:GQ:PL	0/1:84,104:188:99:2758,0,2089	20	0	1	0
chr10	47760886	47760886	G	A	exonic	LOC102724488;SYT15	.	stopgain	LOC102724488:NM_001370182:exon2:c.C415T:p.R139X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169113542	5.454e-05	6.024e-05	4.519e-05	6.427e-05	0.0002	4.409e-05	4.048e-05	9.023e-05	6.894e-05	0	0	0	2.675e-05	4.688e-05	0.0002	5.201e-05	5.557e-05	0.0002	3.977e-05	3.941e-05	2.591e-05	5.428e-05	0.0002	1.728e-05	1.138e-05	1.975e-05	1.126e-05	0	0	6.579e-05	0	0	0	0	5.892e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.565409	0.11293	N	0.804575	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.111	0.09772	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.321371	0.84570	D	0.460519	0.93815	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.604192	0.92480	32	0.99817964772427281	0.90150	0.62464	0.31789	D	AEFDGBCI	.	.	.	0.333622219096487	0.57880	3.957403	0.0833270015718179	0.43709	2.667	0.999999804972833	0.74766	0.764865	0.99124	0	0.627178	0.54094	0	0.731555	0.93304	0	0.63947	0.58350	0	.	.	4.37	1.43	0.21585	1.336000	0.33455	2.782000	0.34741	0.359000	0.20063	0.918000	0.31901	0.999000	0.35428	0.211000	0.22211	0.284:0.0:0.716:0.0	8.235	0.30782	988	0.01987	.;.	.	.	.	.	.	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	873.98	43	chr10	47760886	.	G	A	873.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=846;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=36.84;MQRankSum=0.193;QD=9.82;ReadPosRankSum=-1.580e-01;SOR=0.678	GT:AD:DP:GQ:PL	0/1:51,38:89:99:888,0,1157	20	0	1	0
chr10	48720123	48720123	C	A	exonic	WDFY4	.	nonsynonymous SNV	WDFY4:NM_001370153:exon3:c.C347A:p.A116E	.	.	408	1108	6	0	0	6	0.00270027	0.7321	0.58	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	0.942	D	2.175	M	3.67	T	-0.402	T	0.281	T	0.615	2.692	14.96	4.67	2.291	4.377	13.441	0.163	0.0946325384853	0.0011	0.00139776	0.0010	0.0005	0.0026	0	0	0.0014	0	0.0010	0.0004528	70	154602	rs147299795	0.0011	0.0011	0.0011	0.0011	0.0048	0.0011	0.0011	0.0042	0.0039	0.0003	0.0032	0.0020	0.0048	2.031e-05	0.0042	0.0010	0.0013	0.0007	0.0013	0.0013	0.0014	0.0012	0.0039	0.0012	0.0011	0.0031	0.0028	0.0006	0	0.0039	0.0035	0.0008	0	0.0068	0.0012	0.0052	0.0012	0.003	0.72154	D	0.0	0.92824	D	1.0	0.90584	D	0.997	0.92359	D	.	.	.	.	0.942398	0.37370	D	2.485	0.72352	M	0.85	0.47130	T	-2.92	0.61129	D	0.566	0.58968	-0.4016	0.71976	T	0.281	0.65239	T	9	0.015261084	0.00320	T	0.094633	0.76286	D	0.163	0.42028	.	.	0.389904358541	0.38601	0.615090305073307	0.61441	.	.	0.463675141335	0.33814	T	0.010874	0.09774	T	-0.319406	0.06946	T	-0.235572	0.51229	T	0.0159957443657134	0.00381	T	0.849215	0.53152	T	0.51478386	0.67958	0.5509516	0.74035	0.51478386	0.67959	0.5509516	0.74036	-2.866	0.08808	T	.	.	0.746	0.74879	P	.;.	.;.	4.474125	0.69744	25.4	0.99228182301914847	0.56120	0.96243	0.68195	D	AEFBI	0.735596	0.68136	D	0.548074212183675	0.69965	5.432627	0.448776685983295	0.64638	4.723634	0.999885728299231	0.44867	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.67	4.67	0.58089	4.630000	0.60995	7.542000	0.60105	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.090000	0.17789	0.0:1.0:0.0:0.0	13.441	0.60562	958	0.09170	.;.	.	.	.	.	.	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	1793.98	43	chr10	48720123	.	C	A	1793.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.16;DP=842;ExcessHet=0.0000;FS=7.781;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.37;ReadPosRankSum=1.05;SOR=0.314	GT:AD:DP:GQ:PL	0/1:76,69:145:99:1808,0,1893	20	0	1	0
chr10	49324926	49324926	G	A	exonic	C10orf71	.	nonsynonymous SNV	C10orf71:NM_001135196:exon3:c.G2381A:p.R794H,	.	.	421	1099	2	0	0	2	0.000909091	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	.	.	.	.	0.682	N	1.000	N	-0.345	N	3.65	T	-0.931	T	0.005	T	0.056	1.182	9.806	-7.76	-1.644	-1.709	3.949	0.008	0.00440731310428	0.0002	0.000399361	4.549e-05	0	0	0	0	0.0001	0	0	1.94e-05	3	154602	rs372978439	1.645e-05	1.779e-05	1.129e-05	2.176e-05	0.0002	1.095e-05	9.15e-06	5.453e-05	3.561e-05	0	0	0	0.0001	0	0.0002	8.348e-06	1.725e-05	8.844e-05	2.626e-05	2.625e-05	1.285e-05	4.028e-05	0.0004	8.14e-06	5.14e-06	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	2.94e-05	0	0	0.395	0.10659	T	0.524	0.10317	T	.	.	.	.	.	.	0.682287	0.10248	N	0.788425	1	0.08975	N	.	.	.	3.65	0.04267	T	-0.21	0.10308	N	0.046	0.01825	-0.9311	0.43977	T	0.005	0.01506	T	8	0.02312556	0.00596	T	0.004407	0.10781	T	0.008	0.00669	.	.	0.0986583533028	0.09354	0.07236193870055362	0.07173	0.286467362332	0.31044	.	.	.	.	.	.	-0.510025	0.00502	T	-0.842614	0.01060	T	0.0335283016386267	0.02559	T	0.323368	0.06588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.01577	B	.	.	-1.507432	0.00290	0.005	0.6879440281471354	0.08769	0.01350	0.04632	N	AEFDGBHCI	0.037616	0.05198	N	-1.39321988041961	0.02701	0.1196433	-1.54512696441429	0.02009	0.09182711	0.999999997982876	0.74766	0.520426	0.21595	0	0.596491	0.49125	0	0.440839	0.06518	1	0.584449	0.35598	0	.	.	5.09	-7.76	0.01094	-1.565000	0.02254	-5.626000	0.01651	-0.975000	0.01921	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2076:0.1033:0.4831:0.206	3.949	0.08856	894	0.26265	.	.	.	.	.	.	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	2297.98	112	chr10	49324926	.	G	A	2297.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.448e+00;DP=2712;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.91;ReadPosRankSum=0.528;SOR=0.719	GT:AD:DP:GQ:PL	0/1:107,86:193:99:2312,0,3102	20	0	1	0
chr10	49915934	49915934	T	C	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303489:exon4:c.A478G:p.I160V	.	.	440	1079	3	0	0	3	0.00138825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.0	B	0.001	B	.	.	.	.	0.92	L	.	.	-0.988	T	0.036	T	0.04	0.123	4.660	-0.282	0.143	0.660	7.243	0.030	.	0.0035	0.0103834	0.0050	0.0125	0.0211	0.0352	0	0.0008	0.0041	0.0056	0.0016494	255	154602	rs181763230	0.0019	0.0022	0.0018	0.0020	0.0121	0.0018	0.0018	0.0112	0.0108	0.0067	0.0097	4e-05	0.0121	0	0.0014	0.0009	0.0036	0.0057	0.0045	0.0047	0.0046	0.0044	0.0183	0.0042	0.0041	0.0154	0.0143	0.0095	0	0.0052	0	0.0183	0	0	0.0011	0.0033	0.0075	.	.	.	0.563	0.09022	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	0.255	0.09829	N	.	.	.	.	.	.	0.129	0.12341	-0.9879	0.33126	T	0.036	0.15683	T	7	0.0048787296	0.00104	T	.	.	.	0.030	0.07022	.	.	0.198526703765	0.19489	0.0871866914078908	0.08651	.	.	0.410784125328	0.26565	T	0.047027	0.27602	T	-0.671999	0.00054	T	-0.719132	0.04838	T	0.0022736347746104	0.00024	T	0.60234	0.22547	T	0.069567665	0.15253	0.10071888	0.24090	0.069567665	0.15253	0.10071888	0.24090	-3.195	0.12419	T	.	.	0.053	0.00397	B	.;.	.;.	1.168527	0.15580	11.95	0.74243090856865901	0.10623	0.35992	0.25430	N	AEFI	0.072506	0.14472	N	-0.655537293450461	0.17300	0.8889797	-0.540635612336822	0.21054	1.137223	8.93333146305765E-6	0.01202	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	4.1	-0.282	0.12241	0.527000	0.22695	-0.504000	0.08785	0.650000	0.52971	0.988000	0.36536	0.036000	0.21445	0.996000	0.76049	0.0:0.3698:0.0:0.6302	7.243	0.25281	886	0.28090	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	276.98	44	chr10	49915934	.	T	C	276.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.46;DP=806;ExcessHet=0.0000;FS=2.356;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.86;MQRankSum=0.702;QD=3.04;ReadPosRankSum=-6.880e-01;SOR=1.172	GT:AD:DP:GQ:PL	0/1:74,17:91:99:291,0,1932	20	0	1	0
chr10	49922545	49922545	A	C	splicing	PARG	NM_001303487:exon4:c.1254+2T>G;NM_001303489:exon2:c.336+2T>G;NM_001324381:exon5:c.1332+2T>G;NM_003631:exon5:c.1578+2T>G;NM_001303486:exon5:c.1332+2T>G	.	.	.	.	.	.	.	.	.	.	.	1.0000	0.722	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.312	2.515	2.66	1.232	5.612	9.221	.	.	.	.	0.0008	0.0017	0.0027	0.0029	0	9.274e-05	0.0012	0.0009	0.0001921	5	26028	rs2812992	0.0006	0.0010	0.0005	0.0007	0.0070	0.0006	0.0006	0.0063	0.0060	0.0025	0.0021	0	0.0070	0	0.0010	0.0002	0.0014	0.0019	0.0032	0.0045	0.0033	0.0031	0.0127	0.0030	0.0029	0.0102	0.0093	0.0069	0	0.0038	0	0.0127	0	0	0.0008	0.0010	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.085701	0.38783	T	-0.36088	0.37951	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.406188	0.90513	31	0.81101352243070501	0.13520	0.91030	0.52723	D	AEFI	.	.	.	0.602940454492556	0.73360	5.953448	0.290726486738583	0.54998	3.663309	0.00119195103770592	0.08324	0.099367	0.02607	0	0.104858	0.03167	0	0.112256	0.03162	0	0.089874	0.02613	0	0.769956	0.45591	2.66	2.66	0.30672	6.718000	0.74528	11.142000	0.87100	0.684000	0.82519	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	1.0:0.0:0.0:0.0	9.221	0.36539	880	0.29376	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	417.98	37	chr10	49922545	.	A	C	417.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.43;DP=944;ExcessHet=0.0000;FS=6.975;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=49.68;MQRankSum=-6.980e+00;QD=1.87;ReadPosRankSum=-2.303e+00;SOR=1.278	GT:AD:DP:GQ:PL	0/1:188,35:223:99:432,0,4895	20	0	1	0
chr10	49934118	49934118	C	T	exonic	PARG	.	nonsynonymous SNV	PARG:NM_001303487:exon2:c.G6A:p.M2I	.	.	440	1078	4	0	0	4	0.00185185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1396857920	0.0005	0.0014	0.0005	0.0005	0.0034	0.0005	0.0005	0.0030	0.0028	0.0017	0.0034	4.271e-05	0.0018	0	0.0002	0.0002	0.0008	0.0011	0.0001	0.0014	0.0001	0.0002	0.0008	9.191e-05	7.74e-05	0.0003	0.0002	0.0002	0	0.0003	0	0.0002	0	0	2.944e-05	0	0.0008	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.441	0.47949	.	.	.	.	.	.	.	0.22694355	0.39561	T	.	.	.	.	.	.	.	.	.	0.3101439808474656	0.30927	.	.	.	.	.	0.195894	0.55211	T	.	.	.	.	.	.	.	.	.	0.823018	0.48339	T	.	.	.	.	.	.	.	.	-2.229	0.04183	T	.	.	0.613	0.69403	P	.;.	.;.	3.980559	0.58511	24.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.837000	0.62487	5.974000	0.52050	0.594000	0.32500	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	.	.	.	808	0.43318	.;.	.	.	.	.	.	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	105.98	35	chr10	49934118	.	C	T	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.160e+00;DP=858;ExcessHet=0.0000;FS=5.368;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.07;MQRankSum=-9.812e+00;QD=0.75;ReadPosRankSum=-3.067e+00;SOR=1.410	GT:AD:DP:GQ:PL	0/1:125,17:142:99:120,0,3719	20	0	1	0
chr10	68686695	68686695	C	G	exonic	TET1	.	nonsynonymous SNV	TET1:NM_030625:exon11:c.C5392G:p.L1798V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.573	P	0.25	B	0.001	N	1.000	N	1.845	L	3.22	T	-0.963	T	0.034	T	0.19	1.146	9.669	3.6	1.017	0.494	10.835	0.085	0.00687961992902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.027	0.55341	D	0.573	0.38659	P	0.25	0.39011	B	0.000590	0.00643	N	3.712940	1	0.08975	N	1.235	0.30780	L	3.22	0.07024	T	-1.41	0.34795	N	0.165	0.17416	-0.9627	0.38664	T	0.034	0.14683	T	10	0.100427985	0.18287	T	0.00688	0.18205	T	0.085	0.24743	0.08	0.00663	0.043077524339	0.03247	0.18915610632593677	0.18833	0.324318538032	0.34596	0.279071420431	0.07363	T	0.078328	0.35865	T	-0.255759	0.13400	T	-0.605156	0.12381	T	0.418822467327118	0.29647	T	0.748825	0.36981	T	0.2031321	0.42381	0.15773587	0.36868	0.2031321	0.42380	0.15773587	0.36867	-3.869	0.21839	T	.	.	0.092	0.13550	B	.	.	1.208519	0.16011	12.26	0.91290376666388673	0.20550	0.18583	0.20320	N	AEFGBHCI	0.052679	0.09426	N	-0.477637910840035	0.22816	1.220894	-0.571017506924721	0.20250	1.090155	0.183428672697238	0.17903	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.52	3.6	0.40374	0.123000	0.15536	0.174000	0.15553	0.549000	0.26987	0.006000	0.17386	0.000000	0.08366	0.070000	0.16646	0.0:0.8079:0.1921:0.0	10.835	0.45890	685	0.59416	2OGFeDO, oxygenase domain|2OGFeDO, oxygenase 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	625.98	35	chr10	68686695	.	C	G	625.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.965e+00;DP=707;ExcessHet=0.0000;FS=5.573;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.27;ReadPosRankSum=-1.331e+00;SOR=0.185	GT:AD:DP:GQ:PL	0/1:21,20:41:99:640,0,697	20	0	1	0
chr10	73915328	73915328	T	C	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_001145031:exon9:c.T997C:p.Y333H	Quebec platelet disorder, Autosomal dominant	.	0	1502	20	0	0	20	0.00661376	.	.	322390	not_provided|Quebec_platelet_disorder|PLAU-related_disorder	MedGen:C3661900|MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.000	D	1.000	D	1.2	L	1.57	T	-0.964	T	0.104	T	0.437	3.731	18.95	5.74	2.192	2.421	13.994	0.181	0.0175012644965	0.0042	0.00179712	0.0040	0.0009	0.0036	0	0.0015	0.0059	0.0022	0.0017	0.0038227	591	154602	rs72816325	0.0044	0.0044	0.0045	0.0043	0.0087	0.0043	0.0043	0.0068	0.0061	0.0009	0.0051	0.0026	0	0.0019	0.0087	0.0050	0.0046	0.0018	0.0037	0.0037	0.0036	0.0038	0.0090	0.0035	0.0034	0.0078	0.0073	0.0010	0.0033	0.0090	0.0009	0	0.0008	0.0136	0.0051	0.0062	0.0023	0.002	0.72154	D	0.078	0.43344	T	0.975	0.58077	D	0.888	0.63021	P	0.000001	0.62929	D	0.059770	0.999596	0.81001	D	.	.	.	1.57	0.29342	T	-2.79	0.59059	D	0.762	0.76019	-0.9636	0.38488	T	0.104	0.38316	T	10	0.011672348	0.00254	T	0.017501	0.39223	T	0.181	0.45247	.	.	0.645608581404	0.64267	0.8266639616682705	0.82624	1.11676990416	0.78186	0.542473316193	0.44795	T	0.501888	0.82191	D	-0.415029	0.01841	T	-0.366603	0.37285	T	0.014283407089986	0.00284	T	0.845915	0.52533	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.318	0.55998	B	.;.	.;.	4.264215	0.64833	24.8	0.99824890712650516	0.90764	0.78720	0.38881	D	AEFDBCI	0.279303	0.39338	N	0.366445293518793	0.59614	4.142188	0.410389783339083	0.62210	4.43282	0.999999894832775	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	2.632000	0.46177	7.928000	0.74873	0.665000	0.62972	0.998000	0.41325	1.000000	0.68203	0.660000	0.32968	0.0:0.0:0.0:1.0	13.994	0.63900	394	0.83065	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.02381	1095.98	34	chr10	73915328	.	T	C	1095.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.514;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-1.944e+00;SOR=0.767	GT:AD:DP:GQ:PL	0/1:40,44:84:99:1110,0,988	20	0	1	0
chr10	92534765	92534765	T	C	exonic	IDE	.	nonsynonymous SNV	IDE:NM_001322793:exon3:c.A304G:p.N102D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.008	B	0.000	D	1.000	D	-0.965	N	2.36	T	-1.014	T	0.016	T	0.319	1.086	9.435	5.93	2.263	8.015	16.377	0.152	0.00331103804573	.	.	8.277e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs750183140	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.716	0.03972	T	0.815	0.03886	T	0.002	0.09854	B	0.008	0.13708	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.65	0.02095	N	2.36	0.16089	T	1.17	0.01263	N	0.711	0.71410	-1.0139	0.25688	T	0.016	0.06473	T	10	0.1479555	0.28026	T	0.003311	0.07359	T	0.152	0.39956	0.364	0.37036	0.184867976434	0.18130	0.38046879796193095	0.37961	0.354138918125	0.37196	0.829727649689	0.86520	D	0.085194	0.37447	T	-0.17261	0.24842	T	-0.485719	0.23840	T	0.215504326213921	0.21237	T	0.893711	0.71149	D	0.505981	0.67445	0.38379207	0.63335	0.505981	0.67446	0.38379207	0.63335	-0.826	0.00826	T	.	.	0.096	0.18705	B	.;.;.	.;.;.	2.246046	0.28689	17.88	0.54479702641004157	0.05146	0.99093	0.91122	D	AEFGBI	0.875704	0.79928	D	-0.301850979893433	0.29077	1.609378	0.0176328575057537	0.40534	2.420578	0.999999980656412	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	5.93	0.95888	7.986000	0.87787	4.160000	0.42205	-0.112000	0.15009	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.0:1.0	16.377	0.83235	647	0.63344	.;Peptidase M16, N-terminal|Peptidase M16, zinc-binding site;Peptidase M16, N-terminal|Peptidase M16, zinc-binding site	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	795.98	33	chr10	92534765	.	T	C	795.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.70;DP=754;ExcessHet=0.0000;FS=3.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-3.000e-02;SOR=1.302	GT:AD:DP:GQ:PL	0/1:39,30:69:99:810,0,966	20	0	1	0
chr10	95711957	95711957	A	G	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.A1G:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.99	T	-0.984	T	0.022	T	0.239	0.003	4.029	0.458	0.454	0.268	.	0.050	0.0258532624206	.	.	.	.	.	.	.	.	.	.	.	.	.	rs919503156	1.027e-05	1.026e-05	1.09e-05	9.633e-06	2.99e-05	6.17e-06	4.89e-06	5.75e-06	4.55e-06	2.99e-05	0	0	2.519e-05	0	0	1.079e-05	1.658e-05	0	3.349e-05	0.0008	5.229e-05	1.374e-05	7.396e-05	1.279e-05	8.11e-06	1.961e-05	1.043e-05	7.396e-05	0	0	0	0	0	0	2.982e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.99	0.09262	T	-0.01	0.07155	N	0.636	0.64903	-0.9843	0.33998	T	0.022	0.09147	T	7	0.9436738	0.93692	D	0.025853	0.48797	D	0.050	0.13987	0.995	0.99946	0.043077524339	0.03247	.	.	.	.	.	.	.	.	.	.	-0.356997	0.04303	T	-0.581449	0.14417	T	0.0875836804388688	0.10928	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.549	0.42324	T	.	.	.	.	.	.	.	1.019411	0.13987	10.55	0.53643955591518877	0.04980	0.00569	0.02581	N	AEFGBI	0.012711	0.00146	N	-0.881114104686083	0.11293	0.5441785	-1.01454963048692	0.09465	0.471041	0.00272844770582347	0.09662	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.267000	0.18318	.	.	0.300000	0.18932	0.266000	0.25007	0.945000	0.28875	0.278000	0.23967	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	323.39	32	chr10	95711957	.	A	G	323.39	.	AC=5;AF=0.139;AN=36;BaseQRankSum=1.70;DP=633;ExcessHet=1.1607;FS=22.468;InbreedingCoeff=-0.1784;MLEAC=5;MLEAF=0.139;MQ=57.80;MQRankSum=-5.093e+00;QD=2.34;ReadPosRankSum=0.645;SOR=3.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,2:28:6:0|1:95711947_G_A:6,0,1086:95711947	13	0	5	3
chr10	95711959	95711959	G	C	exonic	ENTPD1	.	startloss	ENTPD1:NM_001098175:exon1:c.G3C:p.M1?,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.011	B	0.043	B	.	.	1.000	N	.	.	2.97	T	-0.985	T	0.022	T	0.301	0.321	5.743	0.458	0.538	0.278	.	0.055	0.0243099664364	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433519358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0008	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.011	0.15914	B	0.043	0.24256	B	.	.	.	.	1	0.81001	D	.	.	.	2.97	0.09450	T	0.0	0.07008	N	0.693	0.69825	-0.9851	0.33808	T	0.022	0.09193	T	7	0.94950134	0.94283	D	0.02431	0.47297	T	0.055	0.15663	0.993	0.99924	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.217906	0.18280	T	-0.550783	0.17250	T	0.141772925853729	0.16427	T	0.9	0.65058	D	.	.	.	.	.	.	.	.	-5.73	0.43959	T	.	.	.	.	.	.	.	0.932069	0.13072	9.577	0.96361290402127009	0.29550	0.00779	0.03201	N	AEFGBI	0.011946	0.00117	N	-0.858725517021361	0.11836	0.5734107	-0.993793893458475	0.09924	0.4966357	0.00285753038931223	0.09753	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	0.458	0.15882	0.280000	0.18550	.	.	0.272000	0.18543	0.255000	0.24900	0.876000	0.27648	0.265000	0.23644	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	404.05	34	chr10	95711959	.	G	C	404.05	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0.673;DP=644;ExcessHet=1.1607;FS=19.869;InbreedingCoeff=-0.1851;MLEAC=6;MLEAF=0.167;MQ=57.78;MQRankSum=-5.316e+00;QD=2.87;ReadPosRankSum=0.611;SOR=2.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,4:30:90:0|1:95711947_G_A:90,0,1080:95711947	13	0	5	3
chr10	95711966	95711966	-	C	exonic	ENTPD1	.	frameshift insertion	ENTPD1:NM_001098175:exon1:c.11dupC:p.K5Qfs*11,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1353731498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.585e-06	0.0008	0	1.349e-05	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	370.88	34	chr10	95711966	.	A	AC	370.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.21;DP=666;ExcessHet=0.6776;FS=17.575;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.06;MQRankSum=-5.316e+00;QD=3.07;ReadPosRankSum=0.238;SOR=2.880	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,4:30:90:0|1:95711947_G_A:90,0,1080:95711947	17	0	4	0
chr10	95711973	95711973	A	-	exonic	ENTPD1	.	frameshift deletion	ENTPD1:NM_001098175:exon1:c.17delA:p.D6Afs*2,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs146056164	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.601e-06	0.0018	0	1.351e-05	2.42e-05	0	0	.	.	2.42e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	686.4	34	chr10	95711972	.	GA	G	686.4	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.485;DP=713;ExcessHet=1.1607;FS=0.739;InbreedingCoeff=-0.1351;MLEAC=5;MLEAF=0.119;MQ=57.11;MQRankSum=-5.587e+00;QD=4.09;ReadPosRankSum=0.00;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,5:35:99:0|1:95711947_G_A:99,0,1245:95711947	16	0	5	0
chr10	95711979	95711979	C	G	exonic	ENTPD1	.	nonsynonymous SNV	ENTPD1:NM_001098175:exon1:c.C23G:p.T8R,	Spastic paraplegia 64, autosomal recessive, Autosomal recessive	.	423	1090	9	0	0	9	0.00411147	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.087	B	0.018	B	.	.	1.000	N	.	.	2.85	T	-0.985	T	0.019	T	0.082	-0.732	0.871	-0.916	-0.340	0.235	.	0.018	0.00180847012655	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776554101	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0001	0.0025	0.0001	0.0001	0.0001	6.73e-05	5.499e-05	6.466e-05	4.42e-05	0.0001	0	0	0	0	0.0002	0	0.0001	0.0005	0	0.116	0.28395	T	0.189	0.28575	T	0.087	0.24971	B	0.018	0.18489	B	.	.	.	.	1	0.08975	N	.	.	.	2.85	0.10578	T	-0.03	0.07444	N	0.159	0.16586	-0.9848	0.33879	T	0.019	0.07800	T	7	0.056895226	0.06450	T	0.001808	0.03115	T	0.018	0.03083	0.201	0.11522	0.0675242888579	0.06100	.	.	.	.	.	.	.	.	.	.	-0.364491	0.03883	T	-0.761343	0.03064	T	0.0465263334017623	0.04879	T	0.39886	0.10126	T	.	.	.	.	.	.	.	.	-3.096	0.11250	T	.	.	0.083	0.09191	B	.	.	0.323582	0.06979	3.532	0.70516184951874417	0.09321	0.00278	0.01504	N	AEFGBI	0.034974	0.04426	N	-1.1441077205401	0.05877	0.2691008	-1.29943115007538	0.04439	0.2093725	0.00278882824345698	0.09705	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	0.458	-0.916	0.09956	0.236000	0.17745	.	.	0.245000	0.18292	0.167000	0.23894	0.053000	0.21875	0.081000	0.17303	.	.	.	788	0.46569	.	.	.	.	.	.	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	0.1389	722.94	38	chr10	95711979	.	C	G	722.94	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-8.280e-01;DP=756;ExcessHet=1.1607;FS=1.533;InbreedingCoeff=-0.1834;MLEAC=6;MLEAF=0.167;MQ=57.11;MQRankSum=-5.592e+00;QD=4.15;ReadPosRankSum=-2.350e-01;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:31,5:36:96:0|1:95711947_G_A:96,0,1280:95711947	13	0	5	3
chr10	98431242	98431242	G	A	exonic	HPS1	.	nonsynonymous SNV	HPS1:NM_001322483:exon6:c.C188T:p.A63V	Hermansky-Pudlak syndrome 1, Autosomal recessive	.	0	1438	80	4	0	88	0.0296896	.	.	207810	not_provided|not_specified|Hermansky-Pudlak_syndrome|Hermansky-Pudlak_syndrome_1	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0019312,MedGen:C0079504,OMIM:PS203300,Orphanet:79430|MONDO:MONDO:0008748,MedGen:C2931875,OMIM:203300,Orphanet:231500,Orphanet:79430	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.267	B	0.025	B	0.002	N	0.942	N	0.49	N	1.64	T	-1.001	T	0.041	T	0.233	0.254	5.375	1.37	0.629	2.749	7.055	0.054	.	0.0013	0.00599042	0.0050	0.0002	0.0016	0.0002	0	0.0020	0.0059	0.0265	0.0043143	667	154602	rs1801286	0.0027	0.0027	0.0018	0.0037	0.0275	0.0027	0.0026	0.0265	0.0262	0.0003	0.0013	0.0002	2.519e-05	5.643e-05	0.0151	0.0011	0.0038	0.0275	0.0020	0.0020	0.0018	0.0022	0.0226	0.0018	0.0017	0.0191	0.0178	0.0003	0	0.0013	0.0003	0	9.416e-05	0.0102	0.0021	0.0057	0.0226	1.0	0.00964	T	1.0	0.01155	T	0.021	0.31683	B	0.01	0.20508	B	0.002153	0.37138	N	0.314930	0.998406	0.26759	N	1.15	0.29295	L	1.64	0.41058	T	0.91	0.09627	N	0.134	0.14905	-1.0010	0.29631	T	0.041	0.17657	T	10	0.0071870685	0.00163	T	.	.	.	0.054	0.15330	.	.	0.268660756437	0.26461	0.14885547693182344	0.14807	0.146048444311	0.16491	0.331832438707	0.15211	T	0.070263	0.33916	T	-0.530698	0.00380	T	-0.514138	0.20891	T	0.003796283524488	0.00040	T	0.834017	0.50983	T	0.01461896	0.00101	0.026975624	0.00819	0.018808953	0.00403	0.028544946	0.01099	-8.403	0.64237	D	0.1050717186731348	0.08288	0.097	0.28348	B	.;.;.;.;.	.;.;.;.;.	2.102873	0.26757	17.23	0.90117148773238731	0.19398	0.68994	0.34014	D	AEFDBIJ	0.165861	0.29240	N	-0.825552417871028	0.12659	0.6184846	-0.688407324566909	0.17250	0.916387	0.0558207521864077	0.15031	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.3	1.37	0.21200	2.767000	0.47321	2.119000	0.30708	-0.113000	0.14837	0.995000	0.38783	0.914000	0.28189	0.796000	0.37562	0.5083:0.0:0.4917:0.0	7.055	0.24272	826	0.39940	.;.;.;.;.	.	.	.	.	.	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	1157.98	40	chr10	98431242	.	G	A	1157.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.770e-01;DP=869;ExcessHet=0.0000;FS=1.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.04;ReadPosRankSum=-1.560e+00;SOR=0.970	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1172,0,806	20	0	1	0
chr10	100944093	100944093	A	G	exonic	SLF2	.	nonsynonymous SNV	SLF2:NM_001136123:exon12:c.A2722G:p.T908A	.	.	435	1084	3	0	0	3	0.00138185	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.492	N	1.000	N	-0.55	N	1.49	T	-0.975	T	0.018	T	0.074	1.268	10.14	-6.53	-0.891	-0.556	5.997	0.041	0.00660096717342	7.7e-05	.	7.547e-05	9.737e-05	0.0005	0	0	1.531e-05	0.0011	0	5.82e-05	9	154602	rs151321115	2.67e-05	2.736e-05	2.044e-05	3.303e-05	0.0004	1.999e-05	1.756e-05	0.0003	0.0002	2.995e-05	0.0004	0	0	0	0.0002	8.998e-06	9.944e-05	3.491e-05	3.286e-05	3.283e-05	5.138e-05	1.345e-05	0.0002	1.261e-05	7.98e-06	5.287e-05	2.835e-05	2.412e-05	0	0.0002	0	0	0	0	0	0	0.0002	0.706	0.04456	T	1.0	0.02490	T	0.0	0.02946	B	0.001	0.04355	B	0.492102	0.12045	N	0.769799	0.927958	0.27132	N	.	.	.	1.49	0.31470	T	0.27	0.04306	N	0.079	0.07949	-0.9745	0.36235	T	0.018	0.07518	T	10	0.018327624	0.00398	T	0.006601	0.17415	T	0.041	0.10877	.	.	0.0482279557977	0.04254	0.2326436973707212	0.23179	0.150098835107	0.16931	0.290779560804	0.09036	T	0.001676	0.01102	T	-0.585078	0.00180	T	-0.74405	0.03723	T	0.00584729184591497	0.00064	T	0.553945	0.19565	T	0.029802075	0.02535	0.031560447	0.01763	0.029802075	0.02534	0.031560447	0.01763	-3.51	0.16572	T	.	.	0.059	0.00847	B	.;.	.;.	0.587351	0.09560	6.334	0.74352028938663517	0.10663	0.20768	0.21162	N	AEFDBI	0.026804	0.02075	N	-1.15259728768762	0.05737	0.2623411	-1.03764221140528	0.08966	0.443536	0.759722404935963	0.23490	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.37	-6.53	0.01697	-0.472000	0.06702	-0.556000	0.08502	0.567000	0.28720	0.657000	0.28234	0.000000	0.08366	0.962000	0.52141	0.2316:0.0:0.4504:0.3181	5.997	0.18729	602	0.67834	.;.	.	.	.	.	.	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	1888.98	33	chr10	100944093	.	A	G	1888.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.865;DP=844;ExcessHet=0.0000;FS=2.983;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.21;ReadPosRankSum=-6.320e-01;SOR=0.624	GT:AD:DP:GQ:PL	0/1:66,77:143:99:1903,0,1538	20	0	1	0
chr10	101007118	101007118	G	A	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G1300A:p.E434K	.	.	422	1097	3	0	0	3	0.0013655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.59	T	0.804	P	0.124	B	0.110	U	0.999	D	0	N	1.53	T	-0.928	T	0.044	T	0.399	4.877	27.9	4.72	2.321	7.927	17.659	0.173	0.00747166490719	.	0.000399361	0.0006	0.0001	0.0005	0	0.0004	0.0008	0	0.0003	0.0004204	65	154602	rs183747098	0.0003	0.0003	0.0002	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0006	0	0	0.0003	0.0014	0.0003	0.0004	0.0002	0.0003	0.0003	0.0003	0.0003	0.0010	0.0002	0.0002	0.0007	0.0005	2.405e-05	0	0.0010	0	0	9.418e-05	0	0.0004	0.0005	0.0002	0.277	0.15665	T	0.77	0.04477	T	0.804	0.45171	P	0.124	0.32546	B	0.110000	0.02630	U	1.875640	0.998628	0.45182	D	0.69	0.16971	N	1.53	0.30401	T	-0.37	0.13226	N	0.376	0.42050	-0.9281	0.44415	T	0.044	0.19111	T	10	0.052433938	0.05278	T	0.007472	0.19819	T	0.173	0.43840	.	.	0.364535869594	0.36064	0.4983040144796368	0.49751	0.339384494567	0.35889	0.715533494949	0.69396	T	0.044954	0.26973	T	-0.353929	0.04485	T	-0.383137	0.35356	T	0.046109678548146	0.04804	T	0.869813	0.57430	D	0.10289376	0.24315	0.109615594	0.26419	0.10289376	0.24315	0.109615594	0.26418	-7.41	0.56975	T	.	.	0.103	0.21011	B	.;.	.;.	3.996087	0.58848	24.0	0.9988235930091649	0.95813	0.98621	0.84797	D	AEFDBCI	0.933485	0.92544	D	0.0280860094699419	0.43136	2.612446	0.163886145137599	0.47881	3.011887	0.999999999999999	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.606735	0.37207	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	8.078000	0.89313	11.699000	0.94472	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.0:0.0:1.0:0.0	17.659	0.88089	554	0.71839	.;.	.	.	.	.	.	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	1012.98	33	chr10	101007118	.	G	A	1012.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.890e-01;DP=834;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.27;ReadPosRankSum=-5.820e-01;SOR=0.629	GT:AD:DP:GQ:PL	0/1:30,41:71:99:1027,0,748	20	0	1	0
chr10	102141234	102141234	T	C	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.T2726C:p.V909A	.	.	393	1072	56	1	0	58	0.0263397	.	.	3202232	PPRC1-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.32	T	0.341	B	0.085	B	0.040	N	1.000	N	0.695	N	1.83	T	-1.044	T	0.037	T	0.216	0.118	4.636	4.68	2.038	0.699	10.053	0.047	0.0101490930981	0.0015	0.00119808	0.0029	0.0009	0.0029	0	0	0.0031	0.0066	0.0059	0.002639	408	154602	rs143292683	0.0020	0.0020	0.0019	0.0022	0.0196	0.0020	0.0019	0.0167	0.0156	0.0004	0.0032	0.0087	2.519e-05	9.36e-05	0.0196	0.0016	0.0034	0.0062	0.0021	0.0021	0.0019	0.0023	0.0066	0.0019	0.0018	0.0055	0.0051	0.0004	0	0.0066	0.0066	0	0	0.0102	0.0022	0.0024	0.0048	0.002	0.72154	D	0.374	0.16280	T	0.231	0.30614	B	0.039	0.23607	B	0.040146	0.24091	N	0.298293	0.999961	0.19072	N	1.83	0.48079	L	1.83	0.25018	T	0.02	0.06739	N	0.238	0.27792	-1.0440	0.16118	T	0.037	0.16116	T	10	0.0036765337	0.00067	T	0.010149	0.26346	T	0.047	0.12962	.	.	0.0675242888579	0.06100	0.14303085265315366	0.14226	0.500752496802	0.48480	0.469196081161	0.34570	T	0.013009	0.30165	T	-0.521682	0.00430	T	-0.519524	0.20342	T	0.0373172031698167	0.03211	T	0.783222	0.42989	T	0.058052696	0.11632	0.085910715	0.19868	0.058052696	0.11631	0.085910715	0.19868	-2.879	0.08935	T	.	.	0.188	0.40441	B	.;.	.;.	2.026997	0.25760	16.88	0.86320634306687338	0.16458	0.29377	0.23805	N	AEFBCI	0.053537	0.09655	N	-0.49094756658609	0.22378	1.19442	-0.420153200462829	0.24406	1.336295	0.99382276453179	0.33371	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.68	4.68	0.58319	0.965000	0.28916	4.582000	0.43923	0.665000	0.62972	0.035000	0.20724	1.000000	0.68203	0.012000	0.09680	0.0:0.0:0.1692:0.8308	10.053	0.41398	666	0.61362	.;.	.	.	.	.	.	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	7316.66	150	chr10	102141234	.	T	C	7316.66	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.99;DP=1074;ExcessHet=0.0000;FS=3.972;InbreedingCoeff=0.6410;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=21.46;ReadPosRankSum=-1.089e+00;SOR=0.495	GT:AD:DP:GQ:PL	0/1:97,94:191:99:2553,0,2457	19	1	1	0
chr10	102837163	102837163	G	A	exonic	CYP17A1	.	nonsynonymous SNV	CYP17A1:NM_000102:exon1:c.C199T:p.R67C,	17-alpha-hydroxylase/17,20-lyase deficiency, Autosomal recessive;17,20-lyase deficiency, isolated, Autosomal recessive	.	0	1517	5	0	0	5	0.00164528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.978	D	0.347	N	1.000	N	2.265	M	-1.37	T	-0.292	T	0.580	D	0.485	0.990	9.040	4.22	2.666	1.236	2.903	0.347	0.378835654977	.	.	4.118e-05	0	0	0.0001	0	4.495e-05	0	6.056e-05	3.23e-05	5	154602	rs750853745	2.155e-05	2.669e-05	1.525e-05	2.789e-05	0.0002	1.544e-05	1.346e-05	1.658e-05	1.409e-05	0	0	0	5.057e-05	0	0.0002	2.383e-05	1.677e-05	1.166e-05	6.573e-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	0.138	0.25873	T	0.164	0.31026	T	1.0	0.90584	D	0.978	0.74104	D	0.347406	0.13869	N	0.732045	0.999884	0.19853	N	3.365	0.91266	M	-1.37	0.80214	T	-3.14	0.64019	D	0.49	0.52386	-0.2917	0.75218	T	0.580	0.84876	D	10	0.5608845	0.64780	D	0.378836	0.92923	D	0.347	0.66863	0.668	0.80602	0.894570740637	0.89352	0.709211621221748	0.70863	1.10128899491	0.77738	0.257579743862	0.04607	T	0.823043	0.95694	D	-0.115635	0.33841	T	-0.178177	0.56691	T	0.528137624263763	0.33665	D	0.944805	0.82184	D	0.46140015	0.64758	0.2960471	0.55637	0.46140015	0.64758	0.2960471	0.55636	-6.331	0.48967	T	.	.	0.319	0.54463	B	.;.;.;.;.	.;.;.;.;.	3.002516	0.40121	21.1	0.95846453065884019	0.27979	0.08952	0.14801	N	AEFDBI	0.174789	0.30194	N	0.112572362844948	0.47048	2.936105	-0.0776786690776176	0.36315	2.111806	0.00213557783687797	0.09181	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.36	4.22	0.49153	1.587000	0.36232	6.391000	0.55559	0.674000	0.70861	0.005000	0.17040	1.000000	0.68203	0.015000	0.10482	0.1801:0.0:0.547:0.273	2.903	0.05361	574	0.70151	.;.;.;.;.	.	.	.	.	.	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	1349.98	35	chr10	102837163	.	G	A	1349.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=830;ExcessHet=0.0000;FS=1.439;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.89;ReadPosRankSum=0.470;SOR=0.603	GT:AD:DP:GQ:PL	0/1:69,55:124:99:1364,0,1706	20	0	1	0
chr10	116436824	116436824	C	T	exonic	PNLIPRP3	.	nonsynonymous SNV	PNLIPRP3:NM_001011709:exon2:c.C163T:p.R55C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.985	D	0.058	N	0.983	D	3.34	M	-2.94	D	0.881	D	0.875	D	0.581	3.193	16.69	3.64	1.201	0.881	8.080	0.639	0.123240508347	.	.	3.311e-05	0	0	0	0	3.006e-05	0	0.0001	2.59e-05	4	154602	rs768796683	2.395e-05	2.394e-05	1.089e-05	3.714e-05	0.0002	1.739e-05	1.539e-05	0.0002	0.0001	0	6.714e-05	0	0	0	0	9.896e-06	0	0.0002	2.631e-05	2.628e-05	3.857e-05	1.347e-05	5.883e-05	8.15e-06	5.14e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.883e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.985	0.76457	D	0.057803	0.22451	N	0.358876	0.98286	0.39943	D	3.56	0.93364	H	-2.94	0.91851	D	-6.01	0.89648	D	0.553	0.57860	0.881	0.95412	D	0.875	0.95834	D	10	0.7385014	0.74790	D	0.123241	0.80438	D	0.639	0.86232	0.76	0.88892	0.903135738198	0.90217	0.6149724938734733	0.61429	0.303466672426	0.32673	0.420527875423	0.27908	T	0.571756	0.85832	D	-0.0607567	0.42788	T	-0.0247253	0.68718	D	0.835122554847999	0.48934	D	0.824718	0.48674	T	0.51190144	0.67790	0.45834228	0.68528	0.51190144	0.67791	0.45834228	0.68528	-9.944	0.73576	D	.	.	0.136	0.29588	B	.	.	4.054969	0.60130	24.2	0.9986933096553271	0.94726	0.12118	0.17071	N	AEFBI	0.123970	0.23982	N	0.256483111468	0.53960	3.562926	0.0968954460439058	0.44393	2.721864	0.999319170337052	0.39113	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.56	3.64	0.40864	0.936000	0.28536	0.938000	0.22831	-0.224000	0.07868	0.002000	0.15269	0.313000	0.24283	0.931000	0.46843	0.1619:0.7508:0.0:0.0873	8.080	0.29899	794	0.45591	Lipase/vitellogenin|Lipase, N-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	1636.98	33	chr10	116436824	.	C	T	1636.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.15;DP=839;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.50;ReadPosRankSum=-1.246e+00;SOR=0.728	GT:AD:DP:GQ:PL	0/1:67,64:131:99:1651,0,1495	20	0	1	0
chr10	118336373	118336373	C	T	exonic	FAM204A	.	nonsynonymous SNV	FAM204A:NM_001134672:exon2:c.G43A:p.A15T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.501	P	0.062	B	0.248	N	1.000	N	0.345	N	.	.	-1.065	T	0.041	T	0.071	1.496	10.95	-1.6	-0.179	0.148	11.177	0.205	0.00632246015218	.	.	1.656e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs765376062	1.437e-05	1.437e-05	1.771e-05	1.101e-05	1.8e-05	9.24e-06	7.84e-06	1.175e-05	9.55e-06	0	0	0	0	0	0	1.8e-05	0	1.16e-05	3.29e-05	3.285e-05	1.286e-05	5.39e-05	7.253e-05	1.262e-05	7.99e-06	1.923e-05	1.033e-05	7.253e-05	0	6.563e-05	0	0	0	0	1.47e-05	0	0	0.022	0.52492	D	0.037	0.54159	D	0.501	0.37169	P	0.062	0.26930	B	0.247884	0.15572	N	0.633028	1	0.08975	N	0	0.06538	N	.	.	.	-0.07	0.08033	N	0.059	0.03069	-1.0646	0.10642	T	0.041	0.17700	T	9	0.05672142	0.06401	T	0.006322	0.16610	T	0.205	0.49236	0.102	0.01589	0.0482279557977	0.04254	0.40897796532580216	0.40813	0.211961697235	0.23693	0.26521062851	0.05527	T	0.029674	0.21209	T	-0.266819	0.12114	T	-0.621043	0.11105	T	0.0795878937593602	0.09934	T	0.692631	0.30204	T	0.042350654	0.06407	0.06701561	0.13805	0.042350654	0.06407	0.06701561	0.13805	-2.632	0.06750	T	.	.	0.066	0.02399	B	.;.;.	.;.;.	2.025197	0.25739	16.87	0.93976475013754801	0.24054	0.37953	0.25878	N	AEFBI	0.036275	0.04807	N	-0.750294266246002	0.14624	0.73011	-0.736247108598667	0.16062	0.8478576	0.151196247893007	0.17443	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.93	-1.6	0.07977	0.121000	0.15496	-0.096000	0.11999	-0.182000	0.10109	0.965000	0.33920	0.000000	0.08366	0.750000	0.35786	0.0:0.4777:0.0:0.5223	11.177	0.47830	775	0.48401	.;.;.	.	.	.	.	.	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	165.89	34	chr10	118336373	.	C	T	165.89	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-3.780e+00;DP=1286;ExcessHet=0.3300;FS=275.458;InbreedingCoeff=-0.0815;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.57;ReadPosRankSum=0.185;SOR=9.541	GT:AD:DP:GQ:PL	0/1:77,26:103:30:30,0,1688	18	0	3	0
chr10	119670071	119670071	C	G	exonic	BAG3	.	nonsynonymous SNV	BAG3:NM_004281:exon2:c.C401G:p.S134C,	Cardiomyopathy, dilated, 1HH, Autosomal dominant;Myopathy, myofibrillar, 6, Autosomal dominant	YES	0	1521	0	1	0	2	0.00065703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.004	B	0.004	B	0.000	D	0.967	D	0.805	L	-0.94	T	-0.603	T	0.301	T	0.267	3.736	18.97	4.57	1.296	2.921	16.360	0.189	0.0447048346944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.311e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.052	0.54541	T	0.004	0.12183	B	0.004	0.10090	B	0.000149	0.49130	D	0.216416	0.966553	0.38538	D	1.7	0.43825	L	-0.94	0.77466	T	-1.95	0.65742	N	0.216	0.24135	-0.6029	0.64697	T	0.301	0.67251	T	10	0.14242002	0.27052	T	0.044705	0.61621	D	0.189	0.46613	0.181	0.08877	0.685048319655	0.68235	0.3663915645473311	0.36553	0.0751094415851	0.08427	0.380569845438	0.22337	T	0.211382	0.57213	T	-0.0200863	0.48842	T	-0.266629	0.48159	T	0.580213536666316	0.35627	D	0.613539	0.23774	T	0.15434465	0.34938	0.14171591	0.33739	0.15434465	0.34938	0.14171591	0.33738	-5.762	0.44242	T	0.5338731966932068	0.60438	0.097	0.25100	B	.;.	.;.	3.713478	0.53031	23.3	0.99280019675447118	0.57869	0.61435	0.31483	D	AEFDBCI	0.399305	0.47464	N	-0.371360193235478	0.26494	1.446405	-0.247368788255165	0.29862	1.676533	0.999999999427683	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.612816	0.40813	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	4.798000	0.62203	5.931000	0.51320	0.594000	0.32500	0.604000	0.27780	1.000000	0.68203	0.740000	0.35438	0.0:0.868:0.1319:0.0	16.360	0.83092	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	1323.98	34	chr10	119670071	.	C	G	1323.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.671;DP=815;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.58;ReadPosRankSum=0.844;SOR=0.634	GT:AD:DP:GQ:PL	0/1:35,50:85:99:1338,0,887	20	0	1	0
chr10	122086749	122086749	G	A	exonic	TACC2	.	nonsynonymous SNV	TACC2:NM_001291876:exon4:c.G4249A:p.E1417K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.962	D	0.281	B	0.003	N	1.000	N	0.975	L	3.32	T	-1.067	T	0.017	T	0.754	3.630	18.46	5.27	2.452	3.033	10.034	0.132	0.0186057720762	.	.	8.25e-06	0	0	0	0	1.502e-05	0	0	6.5e-06	1	154602	rs766896829	2.052e-06	2.052e-06	2.723e-06	1.375e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.799e-06	0	0	6.572e-06	6.567e-06	1.285e-05	0	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.002	0.78490	D	0.033	0.72224	D	0.962	0.55554	D	0.281	0.40336	B	0.003392	0.35013	N	0.000000	1	0.81001	D	1.445	0.36358	L	3.21	0.07478	T	-0.81	0.23590	N	0.614	0.68950	-1.0671	0.10062	T	0.017	0.07187	T	10	0.24889034	0.42193	T	0.018606	0.40730	T	0.132	0.35948	.	.	0.40722173914	0.40337	0.18956104359433032	0.18874	0.519308033653	0.49757	0.496043801308	0.38277	T	0.020841	0.16335	T	-0.039976	0.45952	T	-0.212334	0.53471	T	0.73055237531662	0.42239	D	0.876912	0.58964	D	0.18089285	0.39233	0.13814719	0.33000	0.18089285	0.39233	0.13814719	0.32999	-5.15	0.38429	T	.	.	0.265	0.49979	B	.;.;.;.;.	.;.;.;.;.	4.869878	0.79763	27.2	0.99878983753610129	0.95572	0.73257	0.35836	D	AEFBI	.	.	.	0.307182636475658	0.56518	3.816501	0.382933636698877	0.60514	4.239689	0.99999856890867	0.74766	0.638212	0.43195	0	0.610034	0.51514	0	0.653264	0.51672	0	0.542086	0.14980	0	.	.	5.27	5.27	0.73797	3.600000	0.53805	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.971000	0.54645	0.0927:0.0:0.9073:0.0	10.034	0.41288	943	0.12886	.;.;.;.;.	.	.	.	.	.	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	1483.98	40	chr10	122086749	.	G	A	1483.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.957;DP=1233;ExcessHet=0.0000;FS=3.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.69;ReadPosRankSum=0.571;SOR=0.828	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1498,0,1086	20	0	1	0
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.004	B	0.022	B	0.000	D	0.958	D	1.825	L	2.91	T	-1.066	T	0.029	T	0.723	2.839	15.46	5.44	2.534	6.005	16.179	0.217	0.00704594610802	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.48642	T	0.192	0.33554	T	0.004	0.12183	B	0.022	0.19653	B	0.000010	0.62929	D	0.064498	0.958085	0.38057	D	1.76	0.45711	L	2.91	0.10008	T	-0.84	0.22944	N	0.669	0.67736	-1.0661	0.10293	T	0.029	0.12585	T	10	0.50841606	0.61954	D	0.007046	0.18676	T	0.217	0.51112	0.724	0.85850	0.349647731962	0.34572	0.6258530157450021	0.62518	0.263583704205	0.28913	0.645784556866	0.59386	T	0.019375	0.15446	T	-0.000810022	0.51544	T	-0.23894	0.50901	T	0.890971660614014	0.54186	D	0.877812	0.59215	D	0.22272539	0.44877	0.21593522	0.46201	0.22272539	0.44877	0.21593522	0.46200	-10.869	0.78934	D	.	.	0.647	0.71035	P	.;.;.	.;.;.	3.675766	0.52298	23.2	0.99376505445614849	0.61671	0.97325	0.74040	D	AEFBI	0.695338	0.65404	D	-0.0452252440071354	0.39816	2.354205	0.149695039779814	0.47125	2.947556	0.999999870920904	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.44	5.44	0.79348	6.097000	0.71099	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	16.179	0.81701	926	0.17793	.;.;.	.	.	.	.	.	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	0.3947	1430.69	126	chr10	122983003	.	G	C	1430.69	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-1.692e+00;DP=2620;ExcessHet=17.4423;FS=177.818;InbreedingCoeff=-0.5926;MLEAC=15;MLEAF=0.395;MQ=60.00;MQRankSum=0.00;QD=0.87;ReadPosRankSum=0.541;SOR=13.321	GT:AD:DP:GQ:PL	0/1:88,32:142:70:70,0,1372	4	0	15	2
chr10	123137301	123137301	G	A	exonic	HMX3	.	nonsynonymous SNV	HMX3:NM_001105574:exon2:c.G644A:p.G215D,	.	.	3	1517	2	0	0	2	0.000658762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.78	T	0.06	B	0.01	B	0.000	D	0.984	D	0	N	-2.95	D	-0.444	T	0.376	T	0.189	2.627	14.74	3.85	1.238	8.988	11.986	0.252	0.302718204436	0.0021	0.000798722	0.0029	0.0012	0.0017	0	0.0032	0.0043	0.0022	0.0012	0.0019534	302	154602	rs45492702	0.0032	0.0032	0.0033	0.0031	0.0039	0.0032	0.0031	0.0038	0.0038	0.0005	0.0014	0	0	0.0014	0.0005	0.0039	0.0020	0.0012	0.0020	0.0020	0.0022	0.0018	0.0035	0.0018	0.0017	0.0031	0.0030	0.0005	0.0022	0.0014	0	0	0.0017	0	0.0035	0.0009	0.0006	0.066	0.36113	T	0.667	0.06365	T	0.06	0.23119	B	0.01	0.14941	B	0.000018	0.62929	D	0.112377	0.983598	0.40034	D	1.445	0.36358	L	-2.95	0.91903	D	-0.39	0.13611	N	0.212	0.23632	-0.4442	0.70591	T	0.376	0.73416	T	10	0.0073364675	0.00167	T	0.302718	0.90935	D	0.252	0.56159	.	.	0.639798679687	0.63683	0.22302271562430998	0.22217	0.999591725156	0.74364	0.809618234634	0.83434	D	0.044448	0.26820	T	-0.293695	0.09267	T	-0.192037	0.55399	T	0.0667087792582375	0.08182	T	0.693531	0.30321	T	0.116752185	0.27534	0.25844496	0.51577	0.116752185	0.27533	0.25844496	0.51576	-4.327	0.28554	T	.	.	0.123	0.25689	B	.	.	3.973335	0.58361	24.0	0.98609705113741219	0.43625	0.98828	0.87388	D	AEFDBCIJ	0.919555	0.89025	D	-0.434336806178873	0.24273	1.309533	-0.210035045784752	0.31174	1.761833	0.999999488410733	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.606814	0.37721	0	0.603991	0.37454	0	.	.	4.75	3.85	0.43556	9.397000	0.96628	11.620000	0.93612	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.0858:0.0:0.9142:0.0	11.986	0.52435	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	0	0	0	0	0.02381	925.98	35	chr10	123137301	.	G	A	925.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.74;DP=808;ExcessHet=0.0000;FS=3.884;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.08;ReadPosRankSum=1.09;SOR=1.109	GT:AD:DP:GQ:PL	0/1:67,35:102:99:940,0,1719	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	2/2:1,8,142,0:151:99:.:.:5843,5167,4985,425,227,0,5646,5125,443,5540	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	2/2:1,8,142,0:151:99:.:.:5843,5167,4985,425,227,0,5646,5125,443,5540	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|1:100,38:138:99:0|1:124989533_G_A:1219,0,3984:124989533	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	0/1:115,27:142:99:548,0,3865	1	0	20	0
chr10	124989579	124989579	G	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1481G:p.A494G	.	.	436	984	100	2	0	104	0.0501931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.975	D	0.001	N	1.000	D	1.24	L	-1.82	D	0.438	D	0.671	D	0.652	4.150	21.4	5.12	2.665	9.168	18.759	0.523	0.0686986444289	.	.	.	.	.	.	.	.	.	.	6.47e-05	10	154602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.68238	D	0.102	0.48594	T	0.939	0.77913	P	0.656	0.73362	P	0.001392	0.39175	N	0.252302	0.999998	0.58761	D	1.975	0.53506	M	-1.82	0.85003	D	-1.94	0.45042	N	0.486	0.62781	0.438	0.89660	D	0.671	0.88602	D	10	0.37102997	0.53476	T	0.068699	0.70524	D	0.523	0.79765	0.146	0.04941	0.760411053773	0.75822	0.4168685752787953	0.41602	1.88731367476	0.92685	0.701414048672	0.67348	T	0.299078	0.67161	T	0.208989	0.74736	D	0.0624214	0.74406	D	0.93170565366745	0.59725	D	0.741926	0.36245	T	0.23596977	0.46441	0.21558693	0.46153	0.23596977	0.46441	0.21558693	0.46152	-4.06	0.25701	T	.	.	0.324	0.54775	B	.;.;.;.;.;.	.;.;.;.;.;.	5.064118	0.84424	28.3	0.99719618450600933	0.81914	0.96716	0.70558	D	AEFDGBCI	0.937767	0.93600	D	0.680611287748224	0.78361	6.856259	0.718927581574258	0.83819	8.122182	1.0	0.98316	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	9.506000	0.96988	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	18.759	0.91807	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	4921.72	139	chr10	124989579	.	G	C	4921.72	.	AC=13;AF=0.433;AN=30;BaseQRankSum=0.109;DP=2996;ExcessHet=11.8493;FS=20.692;InbreedingCoeff=-0.6154;MLEAC=16;MLEAF=0.533;MQ=53.13;MQRankSum=-7.741e+00;QD=2.77;ReadPosRankSum=-2.380e+00;SOR=0.745	GT:AD:DP:GQ:PL	0/1:122,19:141:99:159,0,3565	2	0	13	6
chr10	124989594	124989594	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.C1466T:p.A489V	.	.	434	994	92	2	0	96	0.0460653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.194	B	0.09	B	0.000	D	0.999	D	0.55	N	-1.7	D	-0.359	T	0.375	T	0.715	2.521	14.39	5.12	2.665	5.242	16.928	0.413	0.0164095717119	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs796932553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.61437	D	0.153	0.47581	T	0.0	0.29493	B	0.003	0.29851	B	0.000074	0.52346	D	0.171354	0.998727	0.45339	D	0	0.06538	N	-1.7	0.83893	D	-1.52	0.36980	N	0.068	0.35088	-0.3593	0.73284	T	0.375	0.73332	T	10	0.20304337	0.36446	T	0.01641	0.37653	T	0.413	0.72404	0.116	0.02439	0.921111971606	0.92031	0.4850374405507885	0.48423	1.38571311652	0.84878	0.61237859726	0.54653	T	0.238026	0.60585	T	0.178629	0.71918	D	0.0188116	0.71553	D	0.939782977104187	0.61154	D	0.778122	0.41194	T	0.23727793	0.46589	0.19780372	0.43581	0.23727793	0.46589	0.19780372	0.43580	-4.076	0.27513	T	.	.	0.188	0.40538	B	.;.;.;.;.;.	.;.;.;.;.;.	3.666132	0.52110	23.2	0.99088467818009263	0.52149	0.89521	0.50038	D	AEFDGBCI	0.658597	0.62981	D	0.0387136870084276	0.43625	2.651733	0.235082274552022	0.51805	3.359932	0.999999999873815	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	5.12	0.69459	5.529000	0.66849	9.961000	0.82795	-0.105000	0.15698	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:0.0:1.0:0.0	16.928	0.86052	939	0.14249	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	2443.96	41	chr10	124989594	.	G	A	2443.96	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-1.716e+00;DP=2367;ExcessHet=2.5830;FS=12.019;InbreedingCoeff=-0.2395;MLEAC=8;MLEAF=0.211;MQ=55.23;MQRankSum=-7.172e+00;QD=2.31;ReadPosRankSum=-2.830e+00;SOR=0.964	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:145,12:157:41:0|1:124989594_G_A:41,0,5958:124989594	12	0	7	2
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|1:109,17:126:99:0|1:124994489_T_G:386,0,4489:124994489	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|1:105,22:127:99:0|1:124994489_T_G:604,0,4343:124994489	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|1:106,22:128:99:0|1:124994489_T_G:601,0,4366:124994489	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|1:114,28:142:99:0|1:124994523_G_A:825,0,4588:124994523	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	0/1:112,31:143:99:527,0,3301	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	0/1:112,33:145:99:481,0,3275	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|1:120,34:154:99:0|1:124994577_C_A:1067,0,4816:124994577	0	0	21	0
chr10	127175528	127175528	T	C	exonic	INSYN2A	.	nonsynonymous SNV	INSYN2A:NM_001039762:exon4:c.A868G:p.R290G,	.	.	.	.	.	.	.	.	.	.	.	3264126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.34	T	0.011	B	0.015	B	0.000	D	0.997	N	1.155	L	0.93	T	-1.045	T	0.070	T	0.327	0.689	7.682	2.62	0.800	1.048	7.312	0.086	0.0148434837447	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.27663	T	0.341	0.20877	T	0.011	0.15914	B	0.015	0.17295	B	0.000002	0.62929	D	0.099413	0.996998	0.43556	D	.	.	.	0.93	0.44065	T	-2.99	0.62151	D	0.164	0.21710	-1.0446	0.15942	T	0.070	0.28577	T	10	0.08517292	0.14352	T	0.014843	0.35215	T	0.086	0.25016	0.305	0.27485	0.043077524339	0.03247	0.3391599085085521	0.33828	0.17376452902	0.19561	0.377636134624	0.21920	T	0.154246	0.49544	T	-0.188292	0.22509	T	-0.508245	0.21497	T	0.292214602231979	0.24682	T	0.645335	0.26051	T	0.19936335	0.41873	0.15389203	0.36142	0.19936335	0.41873	0.15389203	0.36141	-3.169	0.12106	T	.	.	0.083	0.19114	B	.;.;.	.;.;.	1.034244	0.14145	10.72	0.94847019439997948	0.25643	0.62104	0.31681	D	AEFDBI	0.120113	0.23412	N	-0.731371782725505	0.15144	0.7606497	-0.708877332958123	0.16740	0.8869547	0.899174783968966	0.26044	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.08	2.62	0.30337	1.039000	0.29876	-0.403000	0.09398	0.665000	0.62972	0.812000	0.29879	0.000000	0.08366	0.016000	0.10718	0.0:0.077:0.1943:0.7287	7.312	0.25655	952	0.10565	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1412.98	33	chr10	127175528	.	T	C	1412.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.13;DP=808;ExcessHet=0.0000;FS=0.767;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.72;ReadPosRankSum=-1.671e+00;SOR=0.810	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1427,0,1399	20	0	1	0
chr10	132342260	132342260	C	T	exonic	LRRC27	.	nonsynonymous SNV	LRRC27:NM_001309474:exon3:c.C8T:p.P3L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.001	D	1.000	D	2.14	M	1.45	T	0.458	D	0.682	D	0.797	3.850	19.56	4.76	2.571	4.400	13.990	0.407	.	.	0.00339457	0.0027	0	0.0006	0	0	0	0.0075	0.0087	0.0008667	134	154602	rs552504940	0.0005	0.0006	0.0003	0.0008	0.0089	0.0005	0.0005	0.0084	0.0082	0	0	0	2.674e-05	0	0.0002	1.025e-05	0.0007	0.0089	0.0004	0.0004	0.0003	0.0006	0.0125	0.0003	0.0003	0.0099	0.0090	0	0	0	0	0	0	0	1.47e-05	0	0.0125	0.0	0.91255	D	0.007	0.69154	D	1.0	0.90584	D	0.999	0.97372	D	0.000932	0.41028	D	0.000000	0.99986	0.81001	D	1.905	0.50856	L	1.35	0.60734	T	-9.19	0.98237	D	0.788	0.86618	0.458	0.89943	D	0.682	0.89025	D	10	0.014656842	0.00308	T	.	.	.	0.407	0.71946	.	.	0.732832767634	0.73045	0.5917787117048532	0.59107	0.382340480175	0.39563	0.650352478027	0.60035	T	0.333732	0.70355	T	-0.152478	0.27923	T	0.0133261	0.71197	D	0.168352643941885	0.18468	T	0.944706	0.80311	D	0.7776035	0.82507	0.60362154	0.76964	0.7776035	0.82509	0.60362154	0.76965	-14.429	0.94723	D	.	.	0.910	0.83439	P	.;.;.;.;.	.;.;.;.;.	5.137801	0.86009	28.8	0.99841868533710865	0.92229	0.91319	0.53294	D	AEFBI	0.508977	0.53864	D	0.719223491739272	0.80892	7.396276	0.675732739274994	0.80542	7.321623	0.999844655312316	0.43971	0.651	0.46895	0	0.588066	0.40923	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	4.76	4.76	0.60189	3.911000	0.56091	7.329000	0.58196	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	13.990	0.63874	993	0.01300	.;.;.;.;.	.	.	.	.	.	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	578.98	34	chr10	132342260	.	C	T	578.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.450e-01;DP=737;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.06;ReadPosRankSum=1.27;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,24:48:99:593,0,647	20	0	1	0
chr11	556093	556093	C	T	exonic	LMNTD2	.	nonsynonymous SNV	LMNTD2:NM_173573:exon11:c.G1280A:p.S427N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.002	B	0.008	B	0.777	N	1.000	N	0.205	N	-4.88	D	0.148	D	0.696	D	0.043	0.628	7.375	-0.264	0.365	-0.358	4.102	0.160	0.650184922288	0.0013	0.00139776	0.0018	0.0002	0.0013	0	0	0.0021	0.0043	0.0028	0.0010802	167	154602	rs201667162	0.0016	0.0016	0.0015	0.0017	0.0026	0.0016	0.0016	0.0023	0.0022	0.0003	0.0010	8.315e-05	0	0.0004	0.0002	0.0018	0.0014	0.0026	0.0013	0.0013	0.0013	0.0013	0.0024	0.0012	0.0011	0.0017	0.0016	0.0003	0	0.0024	0	0.0002	0.0005	0	0.0020	0.0014	0.0012	0.528	0.07071	T	0.553	0.09329	T	0.002	0.09854	B	0.008	0.13708	B	0.777016	0.06631	N	1.131770	1	0.08975	N	.	.	.	-4.88	0.98296	D	-1.04	0.27259	N	0.115	0.10340	0.148	0.85025	D	0.696	0.89528	D	10	0.014255136	0.00300	T	0.650185	0.97038	D	0.160	0.41473	.	.	0.377451072189	0.37352	0.06484255452358789	0.06423	0.0626823844065	0.06974	.	.	.	0.014652	0.12435	T	-0.41647	0.01802	T	-0.374998	0.36305	T	0.00242047101572341	0.00025	T	0.263374	0.04265	T	0.049777575	0.08892	0.044071954	0.05627	0.049777575	0.08891	0.044071954	0.05627	-5.909	0.45512	T	.	.	0.103	0.18331	B	.	.	0.290229	0.06665	3.167	0.93134732604377979	0.22775	0.05704	0.11626	N	AEFDBIJ	0.094535	0.19113	N	-1.35787404408953	0.03044	0.1353722	-1.3594752355028	0.03695	0.1729108	0.999941530713842	0.47345	0.660377	0.49826	0	0.694456	0.67091	0	0.64067	0.45733	0	0.620976	0.48614	0	.	.	4.07	-0.264	0.12310	-0.704000	0.05160	-0.299000	0.10130	-0.435000	0.05188	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.1425:0.4831:0.2804:0.094	4.102	0.09490	912	0.21483	Lamin tail domain|Lamin tail domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1199.11	32	chr11	556093	.	C	T	1199.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.605;DP=691;ExcessHet=0.1072;FS=1.897;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=15.78;ReadPosRankSum=0.237;SOR=0.477	GT:AD:DP:GQ:PL	0/1:9,19:28:99:593,0,251	19	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|3:880,0,0,93:973:99:0|1:1017440_C_T:1257,3905,40689,3905,40689,40689,0,36784,36784,36504:1017440	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|2:880,0,93:973:99:0|1:1017440_C_T:1257,3905,40689,0,36784,36504:1017440	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|3:880,0,0,93:973:99:0|1:1017440_C_T:1257,3905,40689,3905,40689,40689,0,36784,36784,36504:1017440	0	0	13	0
chr11	1017467	1017467	G	0	exonic	MUC6	.	.	.	.	.	336	797	216	0	173	389	0.119337	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	2402.58	548	chr11	1017467	.	G	A,*	2402.58	.	AC=6,3;AF=0.200,0.100;AN=30;BaseQRankSum=2.71;DP=13253;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.4000;MLEAC=7,4;MLEAF=0.233,0.133;MQ=56.65;MQRankSum=-5.514e+00;QD=0.40;ReadPosRankSum=0.240;SOR=0.705	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:880,0,93:973:99:0|1:1017440_C_T:1257,3905,40689,0,36784,36504:1017440	6	0	6	6
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	0/2:920,0,103:1031:99:.:.:1312,4203,43684,0,39509,39496	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	0/2:920,0,103:1031:99:.:.:1312,4203,43684,0,39509,39496	3	0	10	4
chr11	1017474	1017474	G	0	exonic	MUC6	.	.	.	.	.	342	447	564	2	167	735	0.388509	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	11964.24	565	chr11	1017474	.	G	A,*	11964.24	.	AC=13,5;AF=0.342,0.132;AN=38;BaseQRankSum=-3.530e-01;DP=13558;ExcessHet=30.0624;FS=0.861;InbreedingCoeff=-0.8261;MLEAC=14,5;MLEAF=0.368,0.132;MQ=56.37;MQRankSum=-7.879e+00;QD=1.05;ReadPosRankSum=1.66;SOR=0.569	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:920,0,103:1031:99:.:.:1312,4203,43684,0,39509,39496	1	0	13	2
chr11	1017475	1017475	T	0	exonic	MUC6	.	.	.	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:920,103,0:1031:99:.:.:1312,0,39496,4203,39509,43684	11	0	4	5
chr11	1017475	1017475	T	G	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.A5326C:p.T1776P,	.	.	339	985	31	0	167	198	0.0154923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.967	D	0.915	D	.	.	1.000	N	1.65	L	1.92	T	-1.035	T	0.084	T	0.142	1.872	12.22	-1.4	-0.326	0.060	2.878	0.035	.	.	.	0.0131	0.0110	0.0073	0.0102	0.0092	0.0120	0.0094	0.0280	.	.	.	rs767120670	0	0.0007	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0052	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.023	0.48186	D	0.022	0.57587	D	0.967	0.56408	D	0.915	0.65091	D	.	.	.	.	1	0.08975	N	1.965	0.53209	M	1.92	0.23082	T	-0.7	0.19933	N	0.032	0.00825	-1.0346	0.18983	T	0.084	0.32729	T	9	0.0030392706	0.00050	T	.	.	.	0.035	0.08770	.	.	.	.	0.12709291837497497	0.12635	0.286751042776	0.31065	0.161724865437	0.00012	T	0.014035	0.12025	T	-0.171226	0.25050	T	-0.483731	0.24051	T	0.165187418460846	0.18247	T	.	.	.	0.07586503	0.17121	0.10278301	0.24644	0.07586503	0.17121	0.10278301	0.24643	-7.784	0.59588	D	.	.	0.075	0.05317	B	.	.	1.345915	0.17528	13.22	0.86401350992746828	0.16511	0.09225	0.15024	N	AEFDGBHCI	0.087222	0.17685	N	-0.554133786201835	0.20354	1.072371	-0.848067051572066	0.13334	0.6911499	0.999988853852363	0.51787	0.004792	0.00041	3	0.008208	0.00037	3	0.634913	0.45138	1	0.387032	0.06801	2	.	.	2.33	-1.4	0.08499	-0.249000	0.08861	-3.059000	0.03098	-1.265000	0.01286	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1901:0.2576:0.0:0.5523	2.878	0.05292	825	0.40060	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1562	436.22	548	chr11	1017475	.	T	*,G	436.22	.	AC=4,1;AF=0.125,0.031;AN=32;BaseQRankSum=3.07;DP=13290;ExcessHet=1.1607;FS=1.912;InbreedingCoeff=-0.2174;MLEAC=5,1;MLEAF=0.156,0.031;MQ=56.45;MQRankSum=-6.635e+00;QD=0.12;ReadPosRankSum=6.01;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:920,103,0:1031:99:.:.:1312,0,39496,4203,39509,43684	11	0	4	5
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	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	0	0	15	1
chr11	1017485	1017485	G	0	exonic	MUC6	.	.	.	.	.	345	838	28	1	310	340	0.017585	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	8917.62	568	chr11	1017485	.	G	A,*	8917.62	.	AC=9,3;AF=0.300,0.100;AN=30;BaseQRankSum=3.65;DP=13357;ExcessHet=9.6308;FS=1.662;InbreedingCoeff=-0.5548;MLEAC=11,4;MLEAF=0.367,0.133;MQ=55.50;MQRankSum=-1.127e+01;QD=1.11;ReadPosRankSum=8.04;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	3	0	9	6
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	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	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	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	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	0/3:884,0,0,161:1081:99:.:.:2086,4956,42630,4956,42630,42630,0,37173,37173,37192	0	0	7	3
chr11	1017504	1017504	G	0	exonic	MUC6	.	.	.	.	.	339	904	113	0	166	279	0.0588235	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	2301.88	593	chr11	1017504	.	G	A,*	2301.88	.	AC=6,4;AF=0.176,0.118;AN=34;BaseQRankSum=3.07;DP=13147;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3958;MLEAC=7,5;MLEAF=0.206,0.147;MQ=56.93;MQRankSum=-1.066e+01;QD=0.38;ReadPosRankSum=-8.910e-01;SOR=0.584	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	7	0	6	4
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	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	0	0	15	2
chr11	1017522	1017522	T	0	exonic	MUC6	.	.	.	.	.	346	931	79	2	164	247	0.0426735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	4405.44	578	chr11	1017522	.	T	G,*	4405.44	.	AC=3,3;AF=0.100,0.100;AN=30;BaseQRankSum=1.48;DP=13418;ExcessHet=1.7912;FS=0.769;InbreedingCoeff=-0.2727;MLEAC=4,4;MLEAF=0.133,0.133;MQ=56.24;MQRankSum=-6.364e+00;QD=1.00;ReadPosRankSum=3.23;SOR=0.630	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	9	0	3	6
chr11	1017528	1017528	T	0	exonic	MUC6	.	.	.	.	.	354	989	176	0	3	179	0.0817084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1562	489.22	578	chr11	1017528	.	T	A,*	489.22	.	AC=1,4;AF=0.031,0.125;AN=32;BaseQRankSum=9.03;DP=14270;ExcessHet=1.1607;FS=1.683;InbreedingCoeff=-0.2174;MLEAC=1,5;MLEAF=0.031,0.156;MQ=56.06;MQRankSum=-7.771e+00;QD=0.11;ReadPosRankSum=0.365;SOR=0.961	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	11	0	1	5
chr11	1017529	1017529	G	0	exonic	MUC6	.	.	.	.	.	367	747	232	0	176	408	0.134415	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10324.21	612	chr11	1017529	.	G	A,*	10324.21	.	AC=7,4;AF=0.219,0.125;AN=32;BaseQRankSum=-1.543e+00;DP=14485;ExcessHet=7.7275;FS=0.000;InbreedingCoeff=-0.4712;MLEAC=8,5;MLEAF=0.250,0.156;MQ=56.16;MQRankSum=-5.112e+00;QD=1.18;ReadPosRankSum=4.45;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:884,0,161:1081:99:.:.:2086,4956,42630,0,37173,37192	5	0	7	5
chr11	1017692	1017738	ATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	-	exonic	MUC6	.	frameshift deletion	MUC6:NM_005961:exon31:c.5063_5109del:p.A1688Gfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	16762.0	917	chr11	1017691	.	CATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG	GATGGTGTGTGGAGGAAGTGTGTGAATGTAGGGATGTAGAGGTTTTGG,C	16762.0	.	AC=4,1;AF=0.286,0.071;AN=14;BaseQRankSum=-6.300e-02;DP=18038;ExcessHet=1.3000;FS=0.588;InbreedingCoeff=-0.3004;MLEAC=8,2;MLEAF=0.571,0.143;MQ=58.84;MQRankSum=-1.154e+01;QD=5.26;ReadPosRankSum=-2.329e+00;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:494,131,0:625:99:0|1:1017440_C_T:2468,0,17999,3953,18350,22303:1017440	2	0	4	14
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	0/1:159,38,19:216:99:.:.:1096,0,6562,780,5879,7417	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	0/1:193,19,0:212:99:.:.:214,0,8089,795,8086,8878	5	0	5	0
chr11	1018290	1018290	G	A	exonic	MUC6	.	nonsynonymous SNV	MUC6:NM_005961:exon31:c.C4511T:p.P1504L,	.	.	414	746	107	2	253	364	0.0692452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.0	B	0.0	B	.	.	1.000	N	0	N	2.32	T	-1.013	T	0.014	T	0.033	-1.839	0.009	-4.82	-3.424	-4.810	0.642	0.004	0.00130114034182	.	.	0.0003	0.0006	0.0002	0.0001	0.0005	0.0003	0.0011	0	1.94e-05	3	154602	rs776891354	1.107e-05	3.01e-05	1.651e-05	5.562e-06	2.261e-05	6.55e-06	5.3e-06	8.17e-06	6.48e-06	0	2.261e-05	0	0	0	0	1.361e-05	0	0	0.0001	0.0098	0.0001	9.374e-05	0.0007	5.246e-05	3.934e-05	0.0001	5.226e-05	0.0001	0	0	0	0.0007	0	0	9.554e-05	0	0	0.087	0.32453	T	0.452	0.12884	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	0.805	0.20218	L	2.32	0.16640	T	-0.07	0.08033	N	0.067	0.03956	-1.0134	0.25848	T	0.014	0.05465	T	9	0.022066832	0.00542	T	0.001301	0.01809	T	0.004	0.00165	.	.	0.141422826196	0.13715	0.17699347360380507	0.17618	0.090681263109	0.10232	0.182567775249	0.00120	T	0.011815	0.10487	T	-0.418061	0.01760	T	-0.838292	0.01125	T	0.0714186060218739	0.08849	T	.	.	.	0.023426026	0.01081	0.02954413	0.01305	0.023426026	0.01081	0.02954413	0.01304	-3.396	0.15003	T	.	.	0.071	0.04041	B	.	.	-1.051810	0.00700	0.020	0.59025517677381145	0.06128	0.00427	0.02100	N	AEFDGBI	0.028602	0.02550	N	-2.28884873487817	0.00048	0.002069904	-2.37477325509698	0.00045	0.001973028	0.999941380871367	0.47345	0.69289	0.55638	0	0.550933	0.16991	0	0.517114	0.09559	2	0.508809	0.08732	0	.	.	2.41	-4.82	0.02938	-5.543000	0.00137	-20.000000	0.00162	-5.324000	0.00012	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3114:0.1979:0.3276:0.1631	0.642	0.00759	825	0.40060	.	.	.	.	.	.	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	0.3571	5589.96	253	chr11	1018290	.	G	A,C	5589.96	.	AC=10,5;AF=0.238,0.119;AN=42;BaseQRankSum=4.42;DP=5021;ExcessHet=17.4423;FS=18.255;InbreedingCoeff=-0.5555;MLEAC=10,5;MLEAF=0.238,0.119;MQ=55.33;MQRankSum=-6.736e+00;QD=1.48;ReadPosRankSum=0.802;SOR=2.085	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:198,22,23:243:34:.:.:359,34,8290,0,7390,8245	6	0	10	0
chr11	1085182	1085182	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	420	1093	9	0	0	9	0.00410023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.062	B	0.006	B	0.766	N	1.000	N	0.2	N	-1.21	T	-0.671	T	0.423	T	0.082	-0.065	3.684	-0.841	-0.347	0.011	9.763	0.175	0.0470070870377	0.0004	0.000599042	0.0008	0	0.0003	0	0	0.0009	0.0012	0.0017	0.0006274	97	154602	rs375576703	0.0009	0.0009	0.0009	0.0010	0.0020	0.0009	0.0009	0.0017	0.0016	0.0001	0	3.828e-05	7.557e-05	0.0005	0.0007	0.0010	0.0011	0.0020	0.0005	0.0005	0.0006	0.0005	0.0017	0.0004	0.0004	0.0008	0.0006	0.0002	0	6.532e-05	0	0	0.0004	0	0.0009	0.0005	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	2859.11	33	chr11	1085182	.	C	T	2859.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.238e+00;DP=958;ExcessHet=0.1072;FS=0.455;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=0.817;SOR=0.747	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1568,0,1472	19	0	2	0
chr11	1095842	1095842	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	510	1010	1	0	1	2	0.000494805	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1171530669	0.0008	0.0008	0.0009	0.0008	0.0010	0.0008	0.0008	0.0009	0.0009	6.372e-05	0.0010	0	2.829e-05	5.686e-05	0.0004	0.0009	0.0014	7.614e-05	0.0007	0.0007	0.0007	0.0007	0.0014	0.0006	0.0006	0.0012	0.0011	7.445e-05	0	0.0007	0	0	0	0	0.0014	0.0005	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	0.02381	2709.98	74	chr11	1095842	.	C	A	2709.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.66;DP=3089;ExcessHet=0.0000;FS=4.218;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.50;MQRankSum=-1.090e-01;QD=13.97;ReadPosRankSum=0.193;SOR=0.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:118,76:194:99:0|1:1095842_C_A:2724,0,4496:1095842	20	0	1	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|1:12,179,0:191:99:1|1:1095948_C_G:6964,242,0,7000,537,7295:1095948	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|1:0,194,0,0:194:99:1|1:1095948_C_G:7897,582,0,7897,582,7897,7897,582,7897,7897:1095948	0	19	0	0
chr11	1096086	1096086	G	0	exonic	MUC2	.	.	.	.	.	566	673	252	7	24	290	0.165012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	16587.35	478	chr11	1096086	.	G	C,*	16587.35	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-3.100e-01;DP=7824;ExcessHet=0.0338;FS=4.192;InbreedingCoeff=0.3842;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.40;MQRankSum=3.42;QD=7.73;ReadPosRankSum=-7.470e-01;SOR=0.804	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:386,92,0:478:99:.:.:1265,0,12347,2417,12621,15038	13	0	4	0
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	0/1:436,122,0:558:99:2282,0,17346,3590,17753,21343	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	0/1:436,122,0:558:99:.:.:2282,0,17346,3590,17753,21343	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	0/1:436,122,0:558:99:.:.:2282,0,17346,3590,17753,21343	1	0	17	1
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	3281.3	481	chr11	1096211	.	A	*,C	3281.3	.	AC=11,2;AF=0.423,0.077;AN=26;BaseQRankSum=0.723;DP=9206;ExcessHet=15.1749;FS=0.000;InbreedingCoeff=-0.6204;MLEAC=15,3;MLEAF=0.577,0.115;MQ=57.49;MQRankSum=-5.247e+00;QD=0.68;ReadPosRankSum=2.33;SOR=0.677	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:372,123,6:501:99:.:.:3732,0,15774,4369,11369,14946	0	0	11	8
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	1/1:0,89,0:89:99:.:.:2744,266,0,2744,266,2744	0	19	0	0
chr11	1096735	1096735	G	0	exonic	MUC2	.	.	.	.	.	77	124	16	7	2	32	0.107914	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	1024.05	19	chr11	1096735	.	G	*,A	1024.05	.	AC=1,7;AF=0.056,0.389;AN=18;BaseQRankSum=2.66;DP=578;ExcessHet=6.7594;FS=42.548;InbreedingCoeff=-0.2647;MLEAC=2,11;MLEAF=0.111,0.611;MQ=49.97;MQRankSum=-7.400e-01;QD=5.25;ReadPosRankSum=0.358;SOR=1.548	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:7,0,7:14:99:0|1:1096735_G_A:253,274,568,0,294,273:1096735	1	0	1	12
chr11	1096742	1096745	ATCT	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	123.76	27	chr11	1096742	.	ATCT	A,*	123.76	.	AC=1,1;AF=0.026,0.026;AN=38;BaseQRankSum=2.76;DP=634;ExcessHet=0.1190;FS=6.474;InbreedingCoeff=0.2614;MLEAC=1,1;MLEAF=0.026,0.026;MQ=54.35;MQRankSum=8.93;QD=0.97;ReadPosRankSum=2.73;SOR=1.141	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,4,0:13:99:0|1:1096735_G_A:137,0,308,164,320,484:1096735	17	0	1	2
chr11	1096743	1096743	T	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0025	0.0052	0.0026	0.0024	0.0059	0.0023	0.0023	0.0041	0.0038	0.0056	0.0031	0.0026	0.0059	0.0052	0.0046	0.0020	0.0024	0.0050	0	0.0010	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	203.35	26	chr11	1096743	.	T	C,*	203.35	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.41;DP=638;ExcessHet=0.3672;FS=16.536;InbreedingCoeff=-0.1805;MLEAC=2,4;MLEAF=0.111,0.222;MQ=41.03;MQRankSum=-5.050e-01;QD=1.38;ReadPosRankSum=-2.728e+00;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:9,0,4:13:99:0|1:1096735_G_A:137,164,484,0,320,308:1096735	6	0	1	12
chr11	1096743	1096743	T	0	exonic	MUC2	.	.	.	.	.	924	586	6	0	6	12	0.00509338	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	203.35	26	chr11	1096743	.	T	C,*	203.35	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.41;DP=638;ExcessHet=0.3672;FS=16.536;InbreedingCoeff=-0.1805;MLEAC=2,4;MLEAF=0.111,0.222;MQ=41.03;MQRankSum=-5.050e-01;QD=1.38;ReadPosRankSum=-2.728e+00;SOR=1.271	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:9,0,4:13:99:0|1:1096735_G_A:137,164,484,0,320,308:1096735	6	0	1	12
chr11	1096745	1096745	T	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0002	0.0002	0.0001	0.0022	0.0001	0.0001	0.0012	0.0009	0.0022	0.0002	0	0	0.0005	0.0014	9.592e-05	0.0002	0.0001	0	5.35e-05	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	202.48	32	chr11	1096745	.	T	G,*	202.48	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.10;DP=647;ExcessHet=0.3672;FS=8.093;InbreedingCoeff=-0.1514;MLEAC=2,4;MLEAF=0.111,0.222;MQ=40.71;MQRankSum=-2.443e+00;QD=1.38;ReadPosRankSum=-2.505e+00;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:9,0,4:13:99:0|1:1096735_G_A:137,164,484,0,320,308:1096735	6	0	1	12
chr11	1096745	1096745	T	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	202.48	32	chr11	1096745	.	T	G,*	202.48	.	AC=1,2;AF=0.056,0.111;AN=18;BaseQRankSum=3.10;DP=647;ExcessHet=0.3672;FS=8.093;InbreedingCoeff=-0.1514;MLEAC=2,4;MLEAF=0.111,0.222;MQ=40.71;MQRankSum=-2.443e+00;QD=1.38;ReadPosRankSum=-2.505e+00;SOR=1.345	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:9,0,4:13:99:0|1:1096735_G_A:137,164,484,0,320,308:1096735	6	0	1	12
chr11	1096749	1096749	C	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	858	658	6	0	0	6	0.00453858	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0026	0.0083	0.0023	0.0030	0.0089	0.0025	0.0025	0.0082	0.0079	0.0036	0.0068	0.0036	0.0056	0.0032	0.0043	0.0016	0.0024	0.0089	0	0.0009	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	0.02941	83.57	35	chr11	1096749	.	C	G	83.57	.	AC=1;AF=0.029;AN=34;BaseQRankSum=2.68;DP=692;ExcessHet=0.0000;FS=11.553;InbreedingCoeff=0.3778;MLEAC=1;MLEAF=0.029;MQ=38.91;MQRankSum=-4.290e-01;QD=6.43;ReadPosRankSum=-2.031e+00;SOR=2.788	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,3:13:96:0|1:1096735_G_A:96,0,346:1096735	16	0	1	4
chr11	1097057	1097057	A	G	exonic	MUC2	.	unknown	UNKNOWN,	.	.	692	829	1	0	0	1	0.000602773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1447147746	0.0020	0.0038	0.0019	0.0021	0.0023	0.0019	0.0019	0.0021	0.0021	0.0019	0.0010	0.0010	0.0011	0.0040	0.0004	0.0023	0.0017	0.0012	0.0007	0.0017	0.0007	0.0007	0.0010	0.0006	0.0005	0.0008	0.0007	0.0005	0	0.0006	0	0.0004	0.0006	0	0.0010	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	362.33	120	chr11	1097057	.	A	G	362.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-3.200e-01;DP=1934;ExcessHet=0.0000;FS=5.564;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=35.50;MQRankSum=2.40;QD=5.84;ReadPosRankSum=-7.000e-01;SOR=1.360	GT:AD:DP:GQ:PL	0/1:42,20:62:99:376,0,1245	19	0	1	1
chr11	1097377	1097377	T	0	exonic	MUC2	.	.	.	.	.	706	772	41	0	3	44	0.0258675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1225.14	90	chr11	1097377	.	T	C,*	1225.14	.	AC=6,1;AF=0.273,0.045;AN=22;BaseQRankSum=2.86;DP=2345;ExcessHet=2.5830;FS=30.158;InbreedingCoeff=-0.4001;MLEAC=9,2;MLEAF=0.409,0.091;MQ=29.98;MQRankSum=-1.032e+00;QD=2.03;ReadPosRankSum=-2.380e-01;SOR=2.410	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:88,23,0:111:99:.:.:331,0,2313,594,2381,2975	4	0	6	10
chr11	1097761	1097761	C	T	exonic	MUC2	.	unknown	UNKNOWN,	.	.	655	863	4	0	0	4	0.00231214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1361308733	0.0015	0.0035	0.0014	0.0015	0.0016	0.0014	0.0013	0.0014	0.0014	0.0016	0.0007	0.0008	0.0011	0.0033	0.0006	0.0015	0.0014	0.0008	0.0003	0.0005	0.0004	0.0003	0.0005	0.0002	0.0002	0.0003	0.0002	0.0004	0	0.0002	0	0	0	0	0.0005	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	0.03125	103.02	145	chr11	1097761	.	C	T	103.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.017;DP=4121;ExcessHet=0.0000;FS=8.593;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=44.22;MQRankSum=0.589;QD=0.47;ReadPosRankSum=0.321;SOR=1.675	GT:AD:DP:GQ:PL	0/1:203,18:221:99:115,0,6521	15	0	1	5
chr11	1097762	1097762	C	A	exonic	MUC2	.	unknown	UNKNOWN,	.	.	661	857	4	0	0	4	0.00232829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1177200914	0.0015	0.0036	0.0015	0.0016	0.0017	0.0014	0.0014	0.0015	0.0014	0.0017	0.0007	0.0007	0.0012	0.0034	0.0006	0.0016	0.0014	0.0010	0.0004	0.0006	0.0004	0.0004	0.0010	0.0003	0.0002	0.0003	0.0003	0.0003	0	0.0002	0	0	0	0	0.0006	0	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.03125	35.02	145	chr11	1097762	.	C	A	35.02	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.029;DP=4115;ExcessHet=0.0000;FS=9.578;InbreedingCoeff=-0.0909;MLEAC=1;MLEAF=0.031;MQ=44.28;MQRankSum=0.388;QD=0.15;ReadPosRankSum=0.997;SOR=1.970	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,16:226:47:0|1:1097760_C_G:47,0,8533:1097760	15	0	1	5
chr11	1097768	1097768	A	C	exonic	MUC2	.	unknown	UNKNOWN,	.	.	713	805	4	0	0	4	0.00247831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423716618	0.0028	0.0036	0.0028	0.0027	0.0053	0.0026	0.0026	0.0042	0.0038	0.0053	0.0015	0.0014	0.0019	0.0052	0.0019	0.0028	0.0026	0.0023	0.0016	0.0023	0.0015	0.0018	0.0026	0.0011	0.0010	0.0011	0.0008	0.0022	0	0.0026	0	0	0.0043	0	0.0012	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	0.04167	50.17	145	chr11	1097768	.	A	C	50.17	.	AC=1;AF=0.042;AN=24;BaseQRankSum=-6.000e-03;DP=3941;ExcessHet=0.0000;FS=10.764;InbreedingCoeff=-0.1509;MLEAC=2;MLEAF=0.083;MQ=41.50;MQRankSum=0.774;QD=0.26;ReadPosRankSum=1.33;SOR=2.268	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,14:190:60:0|1:1097760_C_G:60,0,7229:1097760	11	0	1	9
chr11	1099366	1099435	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	0	exonic	MUC2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	22453.21	278	chr11	1099366	.	TGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC	CGACGCCCATCACCACCACCACTACGGTGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCCC,T,*	22453.21	.	AC=8,3,2;AF=0.308,0.115,0.077;AN=26;BaseQRankSum=1.50;DP=6647;ExcessHet=1.2656;FS=0.000;InbreedingCoeff=0.0574;MLEAC=11,4,3;MLEAF=0.423,0.154,0.115;MQ=53.25;MQRankSum=-1.319e+00;QD=10.10;ReadPosRankSum=-2.293e+00;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:52,137,28,0:217:99:.:.:3723,0,2358,3716,1060,10606,4463,3148,10876,12919	3	2	3	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	1/2:0,105,186:291:99:.:.:8719,2197,1593,3540,0,3536	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|1:270,135,0:405:99:0|1:1099661_A_C:4766,0,10785,5579,11191,16770:1099661	8	0	4	7
chr11	1185059	1185059	G	0	exonic	MUC5AC	.	.	.	.	.	444	914	43	0	121	164	0.0229824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2812	12884.83	715	chr11	1185059	.	G	A,*	12884.83	.	AC=3,6;AF=0.094,0.188;AN=32;BaseQRankSum=5.90;DP=14044;ExcessHet=4.7172;FS=6.096;InbreedingCoeff=-0.3770;MLEAC=4,7;MLEAF=0.125,0.219;MQ=58.38;MQRankSum=-1.742e+01;QD=2.15;ReadPosRankSum=-2.445e+00;SOR=1.196	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:585,163,0:748:99:0|1:1185018_A_C:5083,0,24073,6844,24564,31408:1185018	7	0	3	5
chr11	1191642	1191642	T	0	exonic	MUC5AC	.	.	.	.	.	504	823	191	3	1	198	0.106891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	9561.57	753	chr11	1191642	.	T	*,A	9561.57	.	AC=3,1;AF=0.075,0.025;AN=40;BaseQRankSum=0.214;DP=11227;ExcessHet=0.0082;FS=1.736;InbreedingCoeff=0.3778;MLEAC=3,1;MLEAF=0.075,0.025;MQ=53.89;MQRankSum=1.86;QD=5.67;ReadPosRankSum=0.701;SOR=0.852	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:454,135,0:589:99:0|1:1191628_ACCAGCACAACCTCTGCCTCTACAG_A:4273,0,18549,5635,17922,23374:1191628	17	0	2	1
chr11	1230985	1230985	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon13:c.C1520T:p.T507M,	.	.	413	1104	5	0	0	5	0.00225938	.	.	3208236	MUC5B-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	1.0	D	0.984	D	.	.	0.970	N	2.175	M	0.22	T	-0.618	T	0.361	T	0.384	1.955	12.49	3.93	1.726	3.418	13.105	0.219	0.174036604187	0.0007	.	0.0015	0.0005	0.0013	0	0	0.0022	0.0030	0.0008	0.0007503	116	154602	rs201605309	0.0011	0.0011	0.0011	0.0011	0.0016	0.0010	0.0010	0.0011	0.0011	6.038e-05	0.0009	0.0003	2.578e-05	0.0003	0.0016	0.0012	0.0012	0.0013	0.0006	0.0006	0.0007	0.0006	0.0012	0.0005	0.0005	0.0008	0.0007	0.0001	0	0.0012	0	0	0	0	0.0010	0.0009	0.0010	0.004	0.65419	D	.	.	.	0.999	0.77913	D	0.871	0.61869	P	.	.	.	.	0.969537	0.25749	N	1.91	0.51138	L	0.22	0.59851	T	-5.23	0.83899	D	0.282	0.31925	-0.6178	0.64080	T	0.361	0.72292	T	9	0.064716905	0.08624	T	0.174037	0.85055	D	0.219	0.51417	.	.	0.253981072376	0.25009	0.6745287751686656	0.67390	.	.	0.388388991356	0.23443	T	0.032324	0.22435	T	-0.360938	0.04077	T	-0.298502	0.44883	T	0.0646026534696813	0.07872	T	0.848715	0.53056	T	0.2440386	0.47348	0.39387026	0.64095	0.2440386	0.47348	0.39387026	0.64095	-6.997	0.54012	T	.	.	0.139	0.30397	B	.	.	3.495907	0.48888	22.7	0.96289378802939918	0.29308	0.85483	0.44620	D	AEFDBHCI	0.393077	0.47087	N	0.45786355766953	0.64651	4.724452	0.366562106708076	0.59513	4.129639	0.749754456954727	0.23341	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.562822	0.20929	0	.	.	3.93	3.93	0.44666	3.483000	0.52958	2.525000	0.33139	0.513000	0.23382	0.611000	0.27839	0.986000	0.30841	0.272000	0.23818	0.0:1.0:0.0:0.0	13.105	0.58659	970	0.06235	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	0	0	0	0	0.02381	1166.98	33	chr11	1230985	.	C	T	1166.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.68;DP=814;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.68;ReadPosRankSum=-2.890e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1181,0,1139	20	0	1	0
chr11	1244769	1244769	T	C	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.T7889C:p.L2630P,	.	.	421	1094	7	0	0	7	0.00318907	.	.	2293134	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0	D	0.002	B	0.001	B	.	.	1.000	N	1.01	L	2.05	T	-1.000	T	0.037	T	0.117	-0.237	2.858	-3.77	-0.876	-0.943	3.665	0.007	0.00123789400462	.	0.000599042	0.0006	0.0006	0.0007	0.0002	0	0.0005	0.0011	0.0016	0.0009989	26	26028	rs371763448	0.0006	0.0007	0.0006	0.0007	0.0018	0.0006	0.0006	0.0016	0.0015	0.0004	0.0007	7.663e-05	0.0002	7.493e-05	0.0009	0.0006	0.0007	0.0018	0.0006	0.0007	0.0006	0.0007	0.0016	0.0005	0.0005	0.0011	0.0010	0.0005	0	0.0016	0.0003	0.0004	0	0	0.0006	0.0005	0.0013	0.184	0.21634	T	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.28	0.10031	N	1.86	0.24285	T	-0.37	0.13226	N	0.056	0.02759	-0.9999	0.29945	T	0.037	0.15856	T	9	0.010769725	0.00238	T	0.001238	0.01658	T	0.007	0.00512	.	.	0.043077524339	0.03247	0.2522542839140574	0.25139	.	.	0.210112020373	0.00816	T	0.020343	0.16033	T	-0.662954	0.00060	T	-0.744079	0.03721	T	0.00124382249977216	0.00012	T	0.169883	0.01597	T	0.03697425	0.04650	0.054840896	0.09508	0.03697425	0.04650	0.054840896	0.09507	1.512	0.00082	T	.	.	0.078	0.06942	B	.	.	0.458368	0.08281	5.027	0.2747382530867607	0.01365	0.00098	0.00638	N	AEFI	0.023710	0.01360	N	-1.27686762743339	0.03956	0.1776559	-1.42652532412239	0.02989	0.1385965	5.23272367242991E-5	0.04171	0.553676	0.25195	0	0.588015	0.36545	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	1.88	-3.77	0.04062	-0.619000	0.05668	-2.035000	0.04311	-1.147000	0.01432	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.21:0.3112:0.0:0.4788	3.665	0.07790	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	0.04762	6554.11	40	chr11	1244769	.	T	C	6554.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-1.132e+00;DP=2029;ExcessHet=0.1072;FS=1.101;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.76;MQRankSum=-7.704e+00;QD=12.83;ReadPosRankSum=0.442;SOR=0.680	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,134:277:99:1|0:1244757_C_G:3584,0,5479:1244757	19	0	2	0
chr11	1249257	1249257	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C12377T:p.T4126M,	.	.	455	1064	2	1	0	4	0.00187617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.994	D	0.725	P	.	.	1.000	N	0	N	2.07	T	-1.065	T	0.039	T	0.098	-0.092	3.548	-0.396	-0.364	0.516	0.823	0.100	.	.	.	0.0082	0.0024	0.0014	0	0.0275	0.0106	0.0150	0.0037	0.0003842	10	26028	rs2860626	0.0004	0.0016	0.0004	0.0004	0.0022	0.0004	0.0004	0.0011	0.0008	5.993e-05	0.0007	7.717e-05	2.52e-05	0.0003	0.0022	0.0004	0.0006	0.0003	0.0007	0.0036	0.0008	0.0007	0.0011	0.0006	0.0006	0.0009	0.0008	0.0003	0	0.0011	0	0	0.0002	0	0.0011	0.0005	0.0004	0.003	0.68238	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.805	0.20218	L	1.89	0.23688	T	-1.17	0.29933	N	0.084	0.06059	-1.0650	0.10549	T	0.039	0.16677	T	9	0.0069672763	0.00158	T	.	.	.	0.100	0.28662	.	.	0.043077524339	0.03247	0.6008829904671666	0.60019	.	.	0.307439804077	0.11521	T	0.026688	0.19696	T	-0.313862	0.07412	T	-0.688618	0.06469	T	0.0168555898646078	0.00438	T	0.340966	0.07383	T	0.034339268	0.03834	0.07309953	0.15845	0.034339268	0.03834	0.07309953	0.15845	-7.854	0.60071	D	.	.	0.169	0.37178	B	.	.	1.716105	0.21849	15.38	0.73239970787822828	0.10256	0.01472	0.04908	N	AEFI	0.050227	0.08758	N	-0.884375950991772	0.11213	0.5399419	-1.06848443270914	0.08326	0.4089015	7.81480232488486E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.99	-0.396	0.11808	-0.394000	0.07357	-1.031000	0.06547	-0.548000	0.04911	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.1879:0.3966:0.1838:0.2316	0.823	0.01044	952	0.10565	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	42.98	39	chr11	1249257	.	C	T	42.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.49;DP=1372;ExcessHet=0.0000;FS=14.362;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=42.63;MQRankSum=-4.740e-01;QD=0.60;ReadPosRankSum=-5.610e-01;SOR=3.881	GT:AD:DP:GQ:PL	0/1:65,7:72:57:57,0,1730	20	0	1	0
chr11	1607869	1607869	G	A	exonic	KRTAP5-3	.	nonsynonymous SNV	KRTAP5-3:NM_001012708:exon1:c.C517T:p.P173S,	.	.	435	1077	10	0	0	10	0.00462107	.	.	2700338	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.23	T	0.001	B	0.001	B	.	.	1.000	N	1.915	M	5.19	T	-0.944	T	0.005	T	0.107	-0.161	3.212	-0.162	0.088	-1.379	4.67	0.040	0.00259297718739	0.0002	.	0.0003	0	0.0002	0	0	0.0002	0.0011	0.0013	0.0002523	39	154602	rs201674720	0.0001	0.0001	0.0001	0.0002	0.0016	0.0001	0.0001	0.0008	0.0006	2.997e-05	0	0	0	1.897e-05	0.0016	8.961e-05	0.0003	0.0008	0.0002	0.0002	0.0002	0.0002	0.0013	0.0001	9.809e-05	0.0006	0.0004	2.453e-05	0	6.636e-05	0	0	0	0	0.0003	0	0.0013	0.014	0.53172	D	0.131	0.34596	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	2.53	0.73802	M	5.19	0.01172	T	-6.08	0.89910	D	0.141	0.14054	-0.9437	0.42025	T	0.005	0.01578	T	9	0.0326021	0.01415	T	0.002593	0.05235	T	0.040	0.10527	.	.	0.0806252709748	0.07271	0.03709911176001449	0.03656	0.0209301570774	0.02068	.	.	.	0.098628	0.40264	T	-0.429505	0.01492	T	-0.663048	0.08062	T	0.135738506913185	0.15903	T	.	.	.	0.16437835	0.36641	0.22739103	0.47748	0.16437835	0.36641	0.22739103	0.47747	-7.875	0.60215	D	.	.	0.282	0.51480	B	.	.	1.834603	0.23309	15.97	0.83063333957712349	0.14522	0.00437	0.02136	N	AEFDGBI	0.012930	0.00156	N	-1.14509194023092	0.05861	0.2683051	-1.20876163259635	0.05768	0.275784	0.00833562901249085	0.11656	0.446893	0.09132	0	0.563428	0.19063	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.43	-0.162	0.12712	0.033000	0.13642	0.707000	0.20898	0.300000	0.18932	0.000000	0.06391	0.874000	0.27626	0.011000	0.09372	0.2267:0.3422:0.4311:0.0	4.67	0.12068	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	0.025	2187.33	35	chr11	1607869	.	G	A	2187.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.187e+00;DP=2587;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-1.150e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/1:113,83:196:99:2201,0,3186	19	0	1	1
chr11	1630364	1630368	AGTCC	0	exonic	KRTAP5-5	.	.	.	.	.	439	687	51	4	341	400	0.0411724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5209.38	39	chr11	1630364	.	AGTCC	*,A	5209.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=0.573;DP=3134;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.01;MQRankSum=-2.192e+00;QD=2.91;ReadPosRankSum=-1.810e-01;SOR=0.799	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,69,0:174:99:0|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:2163,0,3966,2482,4175,6657:1630355	11	0	8	0
chr11	1630369	1630395	AGCTGCTGTAAGCCTTACTGCTGCCAG	0	exonic	KRTAP5-5	.	.	.	.	.	437	689	51	4	341	400	0.0410578	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	5142.38	39	chr11	1630369	.	AGCTGCTGTAAGCCTTACTGCTGCCAG	*,A	5142.38	.	AC=9,2;AF=0.214,0.048;AN=42;BaseQRankSum=1.23;DP=3144;ExcessHet=2.2868;FS=0.532;InbreedingCoeff=-0.1085;MLEAC=9,2;MLEAF=0.214,0.048;MQ=57.16;MQRankSum=-2.192e+00;QD=2.88;ReadPosRankSum=-3.820e-01;SOR=0.802	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,69,0:174:99:0|1:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:2163,0,3966,2482,4175,6657:1630355	11	0	8	0
chr11	1630383	1630413	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	0	exonic	KRTAP5-5	.	.	.	.	.	532	195	381	185	229	980	0.658195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	48108.27	39	chr11	1630383	.	TTACTGCTGCCAGTCCAGCTGCTGTAAGCCC	T,*	48108.27	.	AC=16,11;AF=0.381,0.262;AN=42;BaseQRankSum=-2.940e-01;DP=3975;ExcessHet=0.8717;FS=0.000;InbreedingCoeff=0.0667;MLEAC=16,11;MLEAF=0.381,0.262;MQ=58.70;MQRankSum=-5.308e+00;QD=15.77;ReadPosRankSum=0.914;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:102,0,69:174:99:1|0:1630355_CCTGCTGCCAGTCCAGCTGCTGTAAGCCTTA_C:2252,2540,6688,0,4073,3837:1630355	3	3	5	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	1/2:0,34,32,0,0,0:66:99:.:.:2296,1334,1499,1030,0,1335,2383,1486,1298,2702,2383,1486,1298,2702,2702,2383,1486,1298,2702,2702,2702	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	1/2:0,34,32,0,0,0:66:99:.:.:2296,1334,1499,1030,0,1335,2383,1486,1298,2702,2383,1486,1298,2702,2702,2383,1486,1298,2702,2702,2702	0	5	0	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|1:58,17:75:95:0|1:6564079_G_C:95,0,1697:6564079	7	0	10	4
chr11	6564080	6564080	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10240A:p.A3414T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.474	P	0.225	B	.	.	1.000	N	0.805	L	-0.85	T	-0.888	T	0.218	T	0.147	1.580	11.24	-0.135	-0.223	0.076	6.244	0.083	0.0467579308286	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.30097	T	0.0	0.92824	D	0.474	0.36620	P	0.225	0.38015	B	.	.	.	.	0.998909	0.21810	N	2.015	0.55033	M	-0.85	0.74371	T	-0.93	0.24898	N	0.138	0.13626	-0.8881	0.49097	T	0.218	0.57994	T	9	0.13051403	0.24838	T	0.046758	0.62606	D	0.083	0.24192	0.346	0.34112	0.579495267905	0.57620	0.09409961299812689	0.09341	0.127881264802	0.14423	0.30204719305	0.10706	T	0.069417	0.33703	T	-0.113712	0.34157	T	-0.401116	0.33253	T	0.206445809254729	0.20766	T	0.528347	0.17454	T	0.07276206	0.16210	0.083248354	0.19065	0.07276206	0.16209	0.083248354	0.19064	-4.457	0.30322	T	.	.	0.121	0.25199	B	.;.	.;.	1.174685	0.15644	12.00	0.98025180740868112	0.37666	0.48763	0.28280	N	AEFDBI	0.078697	0.15884	N	-0.473820017221318	0.22940	1.228488	-0.469990113186012	0.22985	1.251195	0.998335283604032	0.36777	0.67177	0.52595	0	0.702456	0.74545	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	4.27	-0.135	0.12819	0.092000	0.14905	0.199000	0.15831	0.618000	0.50648	0.989000	0.36753	0.007000	0.19602	0.931000	0.46843	0.0:0.2831:0.316:0.4009	6.244	0.20013	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	1	0	0	0	0.02381	80.98	52	chr11	6564080	.	G	A	80.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.075e+00;DP=1014;ExcessHet=0.0000;FS=50.845;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.08;ReadPosRankSum=1.02;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,17:75:95:0|1:6564079_G_C:95,0,1697:6564079	20	0	1	0
chr11	10603218	10603229	GGTGCTCACAGT	-	exonic	IRAG1	.	nonframeshift deletion	IRAG1:NM_001206881:exon12:c.821_832del:p.H274_H277del	.	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.776e-05	0	0	0	0	0.0001	0	0	3.84e-05	1	26028	rs747974032	8.28e-05	8.277e-05	7.08e-05	9.492e-05	0.0005	7.071e-05	6.62e-05	0.0001	7.66e-05	0	0	0.0022	0	0	0.0005	4.767e-05	9.942e-05	2.32e-05	5.918e-05	6.568e-05	3.856e-05	8.077e-05	5.881e-05	3.079e-05	2.211e-05	1.972e-05	1.124e-05	0	0	0	0.0014	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1484.94	34	chr11	10603217	.	CGGTGCTCACAGT	C	1484.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.020e-01;DP=798;ExcessHet=0.0000;FS=0.822;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.47;ReadPosRankSum=-7.370e-01;SOR=0.868	GT:AD:DP:GQ:PL	0/1:46,39:85:99:1499,0,1802	20	0	1	0
chr11	10603227	10603227	A	T	exonic	IRAG1	.	nonsynonymous SNV	IRAG1:NM_001206881:exon12:c.T823A:p.C275S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.077	B	0.017	B	0.002	N	1.000	N	0.97	L	2.48	T	-1.054	T	0.025	T	0.28	2.194	13.29	5.63	2.257	2.266	11.243	0.029	0.00360112559653	8.1e-05	.	0.0002	0	0	0	0.0002	0.0003	0	0	0.0001294	20	154602	rs375240782	0.0001	0.0001	0.0001	0.0001	0.0009	0.0001	0.0001	0.0003	0.0002	0	6.709e-05	0.0020	0	0.0004	0.0009	0.0001	0.0002	2.32e-05	9.862e-05	0.0001	7.712e-05	0.0001	8.823e-05	6.01e-05	4.883e-05	3.763e-05	2.576e-05	2.414e-05	0	0	0.0009	0	0.0005	0	8.823e-05	0	0	0.266	0.17239	T	0.546	0.11968	T	.	.	.	.	.	.	0.001596	0.38554	N	0.299547	0.752273	0.29625	N	.	.	.	2.48	0.14657	T	-1.34	0.35399	N	0.25	0.35301	-1.0545	0.13172	T	0.025	0.10910	T	10	0.034205467	0.01621	T	0.003601	0.08247	T	0.029	0.06676	.	.	0.355658859761	0.35178	0.24394088943200626	0.24308	0.10099815204	0.11413	0.43475317955	0.29860	T	0.054444	0.29726	T	-0.381109	0.03066	T	-0.525534	0.19735	T	0.0395820292128215	0.03615	T	0.783222	0.41972	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.28664	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.306844	0.29522	18.15	0.8906579547555048	0.18482	0.87987	0.47723	D	AEFBI	0.680831	0.64439	D	-0.147880783383123	0.35325	2.027587	0.0598825068487348	0.42550	2.575718	0.99999517148414	0.74766	0.656854	0.48797	0	0.59043	0.45803	0	0.67347	0.61138	0	0.613276	0.41899	0	.	.	5.63	5.63	0.86108	2.255000	0.42877	6.635000	0.56164	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8635:0.0:0.0:0.1365	11.243	0.48211	415	0.81806	.;.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3161.28	34	chr11	10603227	.	A	T,*	3161.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.34;DP=912;ExcessHet=0.3300;FS=4.890;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.40;SOR=0.982	GT:AD:DP:GQ:PL	0/2:46,0,39:85:99:1499,1638,3557,0,1920,1802	18	0	2	0
chr11	10603227	10603227	A	0	exonic	IRAG1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	3161.28	34	chr11	10603227	.	A	T,*	3161.28	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=1.34;DP=912;ExcessHet=0.3300;FS=4.890;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=60.00;MQRankSum=0.00;QD=11.50;ReadPosRankSum=1.40;SOR=0.982	GT:AD:DP:GQ:PL	0/2:46,0,39:85:99:1499,1638,3557,0,1920,1802	18	0	2	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	1|2:0,75,6:81:10:1|0:12294839_CCTA_C:3679,342,10,2512,0,2805:12294839	6	2	6	4
chr11	15149197	15149197	G	A	exonic	INSC	.	nonsynonymous SNV	INSC:NM_001278313:exon1:c.G23A:p.R8H	.	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.954	P	0.482	P	0.009	N	0.987	N	-0.69	N	1.51	T	-1.106	T	0.018	T	0.178	1.527	11.06	4.08	1.343	0.046	9.451	0.074	.	0.0022	0.0107827	0.0049	0.0062	0.0011	0.0122	0	0.0002	0.0023	0.0249	0.0043855	678	154602	rs138418543	0.0023	0.0023	0.0018	0.0027	0.0222	0.0022	0.0022	0.0214	0.0210	0.0066	0.0005	0	0.0182	1.876e-05	0.0017	0.0002	0.0032	0.0222	0.0031	0.0031	0.0026	0.0036	0.0243	0.0028	0.0028	0.0207	0.0194	0.0059	0	0.0010	0	0.0137	0	0	0.0002	0.0024	0.0243	0.065	0.40319	T	0.29	0.21011	T	0.954	0.54400	P	0.361	0.43233	B	0.009037	0.30550	N	0.279911	0.986734	0.24587	N	-0.345	0.03330	N	1.46	0.32238	T	-0.58	0.27669	N	0.25	0.28264	-1.1060	0.03437	T	0.018	0.07282	T	10	0.0043935776	0.00089	T	.	.	.	0.074	0.21613	.	.	0.367992661779	0.36405	0.20868361221835582	0.20784	0.0993098278073	0.11221	0.206981122494	0.00690	T	0.021181	0.16539	T	-0.591724	0.00164	T	-0.604493	0.12436	T	0.0147719467428147	0.00309	T	0.630737	0.25655	T	0.042347066	0.06404	0.037732117	0.03487	0.042347066	0.06404	0.037732117	0.03487	-4.238	0.30269	T	.	.	0.065	0.33226	B	.;.;.;.;.;.	.;.;.;.;.;.	1.343453	0.17504	13.20	0.94034750524717037	0.24151	0.39583	0.26245	N	AEFI	0.138901	0.26033	N	-0.388109764820793	0.25890	1.408936	-0.259473120564666	0.29446	1.649812	0.0108243850526347	0.12088	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.99	4.08	0.46880	0.063000	0.14285	-0.231000	0.10676	-0.106000	0.15538	0.714000	0.28761	0.000000	0.08366	0.799000	0.37691	0.0954:0.0:0.9046:0.0	9.451	0.37887	812	0.42537	.;.;.;.;.;.	.	.	.	.	.	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	358.98	41	chr11	15149197	.	G	A	358.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.720e-01;DP=817;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.56;ReadPosRankSum=0.333;SOR=0.473	GT:AD:DP:GQ:PL	0/1:20,14:34:99:373,0,535	20	0	1	0
chr11	18506904	18506904	C	T	exonic	TSG101	.	nonsynonymous SNV	TSG101:NM_006292:exon6:c.G501A:p.M167I,	Breast cancer, somatic	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.018	B	0.01	B	0.000	D	1.000	D	1.87	L	1.02	T	-1.081	T	0.060	T	0.227	2.251	13.49	5.96	2.831	4.289	15.010	0.104	.	0.0076	0.00559105	0.0019	0.0214	0.0010	0	0	0	0.0022	0	0.0018111	280	154602	rs34385327	0.0006	0.0006	0.0007	0.0005	0.0222	0.0006	0.0006	0.0209	0.0204	0.0222	0.0011	0	0	0	0.0002	9.931e-06	0.0014	5.89e-05	0.0059	0.0059	0.0060	0.0058	0.0209	0.0056	0.0055	0.0197	0.0193	0.0209	0	0.0012	0	0	0	0	7.353e-05	0.0038	0	0.4	0.10482	T	0.388	0.15842	T	0.018	0.17786	B	0.01	0.14941	B	0.000000	0.84330	D	0.000000	0.999958	0.58761	D	1.78	0.46185	L	1.02	0.40749	T	-1.01	0.26639	N	0.321	0.36148	-1.0805	0.07252	T	0.060	0.24981	T	10	0.0076283813	0.00173	T	.	.	.	0.104	0.29647	0.085	0.00830	0.328504224676	0.32467	0.4004309865571844	0.39958	0.561244684878	0.52632	0.512473583221	0.40568	T	0.126916	0.45360	T	-0.488585	0.00661	T	-0.458338	0.26781	T	0.018079310611391	0.00531	T	0.856914	0.54589	D	0.24039479	0.46943	0.1667706	0.38511	0.24039479	0.46943	0.1667706	0.38510	-4.819	0.34812	T	.	.	0.219	0.44923	B	.;.	.;.	3.536134	0.49643	22.8	0.97679005300964683	0.35306	0.95789	0.66160	D	AEFBI	0.685585	0.64754	D	0.102548992772463	0.46580	2.896316	0.291124857840771	0.55020	3.665592	0.883118751413571	0.25667	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.96	5.96	0.96695	4.616000	0.60900	5.935000	0.51384	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1417:0.8583:0.0:0.0	15.010	0.71204	569	0.70546	.;.	.	.	.	.	.	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	410.98	33	chr11	18506904	.	C	T	410.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.242e+00;DP=702;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.54;ReadPosRankSum=0.240;SOR=0.610	GT:AD:DP:GQ:PL	0/1:21,18:39:99:425,0,566	20	0	1	0
chr11	18532411	18532411	A	G	exonic	UEVLD	.	nonsynonymous SNV	UEVLD:NM_001261384:exon10:c.T935C:p.I312T	.	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	T	0.032	B	0.041	B	0.124	U	1.000	D	1.72	L	-0.29	T	-0.796	T	0.144	T	0.407	2.082	12.92	5.31	2.014	2.967	13.492	0.272	.	0.0063	0.00379393	0.0016	0.0179	0.0007	0	0	0	0.0011	0	0.0014748	228	154602	rs147462573	0.0005	0.0005	0.0006	0.0004	0.0182	0.0005	0.0005	0.0170	0.0166	0.0182	0.0008	0	0	0	0.0002	5.397e-06	0.0011	5.8e-05	0.0049	0.0049	0.0051	0.0047	0.0173	0.0046	0.0045	0.0163	0.0159	0.0173	0	0.0009	0	0	0	0	7.352e-05	0.0028	0	0.055	0.40319	T	0.029	0.54934	D	0.013	0.16609	B	0.026	0.20792	B	0.124139	0.18892	U	0.501364	0.628384	0.81001	D	1.78	0.46185	L	-0.29	0.67712	T	-2.71	0.57920	D	0.162	0.26717	-0.7965	0.55350	T	0.144	0.46732	T	10	0.0051658154	0.00112	T	.	.	.	0.272	0.58758	.	.	0.776247971521	0.77418	0.6944236922605657	0.69383	0.227251636705	0.25277	0.568108201027	0.48410	T	0.240029	0.60827	T	-0.341635	0.05275	T	-0.249232	0.49893	T	0.0266261699546726	0.01491	T	0.829717	0.49530	T	0.43054482	0.62787	0.23940152	0.49287	0.43054482	0.62788	0.23940152	0.49286	-8.765	0.66172	D	.	.	0.191	0.40921	B	.;.	.;.	2.692941	0.35159	19.82	0.98128158862856329	0.38498	0.88302	0.48169	D	AEFGBI	0.240387	0.36218	N	-0.0672672415156557	0.38835	2.280673	0.0716060201675047	0.43128	2.62102	0.999992724038271	0.74766	0.67177	0.52595	0	0.633656	0.55848	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	5.31	5.31	0.75063	3.358000	0.52004	7.908000	0.73883	0.756000	0.94297	0.997000	0.40164	1.000000	0.68203	0.914000	0.44937	1.0:0.0:0.0:0.0	13.492	0.60855	569	0.70546	Lactate/malate dehydrogenase, C-terminal;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	910.98	40	chr11	18532411	.	A	G	910.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.570;DP=773;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.31;ReadPosRankSum=-5.680e-01;SOR=0.693	GT:AD:DP:GQ:PL	0/1:38,36:74:99:925,0,924	20	0	1	0
chr11	30892949	30892949	T	C	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon17:c.A2263G:p.I755V	.	.	425	1094	3	0	0	3	0.00136924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.88	T	.	.	.	.	.	.	1.000	N	1.085	L	.	.	-0.936	T	0.098	T	0.046	-1.264	0.047	-7.77	-1.525	-1.575	19.520	0.045	0.00253645755154	8.4e-05	0.000199681	0.0004	0.0001	0	0	0.0002	2.997e-05	0.0011	0.0024	0.0002975	46	154602	rs368503716	0.0002	0.0002	9.802e-05	0.0003	0.0028	0.0002	0.0002	0.0025	0.0024	2.987e-05	0	0	2.519e-05	1.873e-05	0.0002	2.968e-05	0.0001	0.0028	0.0001	0.0001	5.138e-05	0.0002	0.0029	7.084e-05	5.742e-05	0.0018	0.0014	2.405e-05	0	0	0	0	0	0	2.94e-05	0	0.0029	.	.	.	0.681	0.07842	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.71	0.26737	T	.	.	.	0.055	0.06720	-0.9363	0.43195	T	0.098	0.36651	T	6	0.0082604885	0.00187	T	0.002536	0.05065	T	0.045	0.12272	.	.	0.177238962908	0.17366	0.020400231430496775	0.01993	.	.	0.210722506046	0.00842	T	.	.	.	-0.736102	0.00022	T	-0.835374	0.01171	T	0.0204066946908514	0.00740	T	0.383462	0.09368	T	.	.	.	.	.	.	.	.	-2.675	0.07095	T	.	.	0.061	0.01859	B	.;.	.;.	-2.011978	0.00098	0.002	0.18866308137246532	0.00612	0.01067	0.03955	N	AEFI	0.049706	0.08616	N	-1.58458270359947	0.01343	0.05852903	-1.75150031039479	0.00927	0.04150277	0.00684528352886515	0.11323	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.44	-7.77	0.01090	-1.584000	0.02217	-3.392000	0.02822	-2.309000	0.00320	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7145:0.0:0.2855	19.520	0.95173	454	0.79125	.;.	.	.	.	.	.	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	1513.98	33	chr11	30892949	.	T	C	1513.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.120e-01;DP=823;ExcessHet=0.0000;FS=2.381;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.74;ReadPosRankSum=-1.630e-01;SOR=0.475	GT:AD:DP:GQ:PL	0/1:67,62:129:99:1528,0,1686	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	2/3:6,7,19,15:47:99:759,436,733,143,240,223,324,206,0,313	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	2/3:6,7,19,15:47:99:759,436,733,143,240,223,324,206,0,313	0	0	0	0
chr11	34118259	34118259	G	A	exonic	NAT10	.	nonsynonymous SNV	NAT10:NM_001144030:exon5:c.G421A:p.V141I	.	.	425	1074	20	3	0	26	0.0119595	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	0.105	N	1.000	N	-0.275	N	1.6	T	-0.995	T	0.027	T	0.052	-1.310	0.035	-3.72	-0.974	0.161	13.249	0.016	0.0072581017845	7.7e-05	0.00159744	0.0012	0	0.0010	0	0	0.0003	0.0022	0.0068	0.0010349	160	154602	rs200281086	0.0007	0.0007	0.0004	0.0009	0.0073	0.0006	0.0006	0.0068	0.0066	5.974e-05	0.0007	0.0003	0	1.873e-05	0.0057	0.0002	0.0008	0.0073	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	7.221e-05	0	0.0002	0.0012	0	9.438e-05	0	0.0002	0.0019	0.0068	0.712	0.04020	T	0.667	0.07244	T	0.0	0.02946	B	0.0	0.01387	B	0.105105	0.19673	N	0.581663	1	0.08975	N	-0.32	0.03561	N	1.6	0.28604	T	-0.28	0.12661	N	0.202	0.22357	-0.9954	0.31191	T	0.027	0.11441	T	10	0.005977571	0.00134	T	0.007258	0.19253	T	0.016	0.02506	.	.	0.148003135375	0.14442	0.12018189718749481	0.11945	0.157606544175	0.17795	0.224297851324	0.01573	T	0.015696	0.13114	T	-0.697882	0.00038	T	-0.771649	0.02714	T	0.00657670257427901	0.00073	T	0.675332	0.28377	T	0.010757122	0.00010	0.020973336	0.00166	0.010757122	0.00010	0.020973336	0.00166	-2.458	0.08248	T	.	.	0.071	0.03773	B	.;.;.;.	.;.;.;.	-1.092207	0.00650	0.018	0.41104431210079645	0.02944	0.09367	0.15137	N	AEFGBI	0.071951	0.14342	N	-1.83012127711323	0.00476	0.02046864	-1.8206969432121	0.00695	0.03095526	0.00182986892131449	0.08920	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.81	-3.72	0.04125	0.173000	0.16538	-0.230000	0.10685	-2.607000	0.00233	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3424:0.0:0.6576:0.0	13.249	0.59470	332	0.86382	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	3694.11	34	chr11	34118259	.	G	A	3694.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.74;DP=1014;ExcessHet=0.1072;FS=2.810;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.35;ReadPosRankSum=-1.480e-01;SOR=0.564	GT:AD:DP:GQ:PL	0/1:101,101:202:99:2386,0,2408	19	0	2	0
chr11	36633290	36633290	A	G	exonic	IFTAP	.	nonsynonymous SNV	IFTAP:NM_001276722:exon3:c.A143G:p.H48R	.	.	645	874	3	0	0	3	0.00171331	.	.	3263908	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.87	T	0.004	B	0.015	B	0.435	N	1.000	N	0.55	N	.	.	-1.038	T	0.060	T	0.162	-2.392	0.003	1.08	0.030	0.153	6.111	0.029	0.00326834558316	0.0003	.	0.0001	0	8.743e-05	0	0	0.0002	0	0	9.7e-05	15	154602	rs149036446	7.909e-05	8.277e-05	7.842e-05	7.978e-05	0.0024	6.708e-05	6.242e-05	0.0014	0.0011	0	5.872e-05	0	0	0	0.0024	8.323e-05	0.0001	1.414e-05	6.569e-05	6.561e-05	5.141e-05	8.062e-05	0.0003	3.516e-05	2.616e-05	0.0001	8.287e-05	0	0	0.0003	0	0	0	0.0034	5.886e-05	0	0	0.791	0.07521	T	0.161	0.33554	T	0.004	0.12183	B	0.015	0.17295	B	0.434894	0.04725	N	1.309280	1	0.08975	N	0.69	0.16971	N	.	.	.	-0.33	0.16393	N	0.076	0.05037	-1.0379	0.17954	T	0.060	0.25273	T	9	0.02184537	0.00532	T	0.003268	0.07237	T	0.029	0.06676	.	.	0.0551355673512	0.04727	0.03185164530673643	0.03134	0.0287149310921	0.02955	.	.	.	0.008348	0.09443	T	-0.404062	0.02177	T	-0.52804	0.19482	T	0.0159493494314518	0.00378	T	0.39886	0.10126	T	0.030755484	0.02793	0.03711948	0.03297	0.030755484	0.02793	0.03711948	0.03296	-3.328	0.14100	T	.	.	0.069	0.03964	B	.;.;.;.;.;.	.;.;.;.;.;.	0.655338	0.10239	6.975	0.16519934972868822	0.00446	0.08151	0.14116	N	AEFGI	0.096930	0.19560	N	-1.52316936560959	0.01698	0.07431992	-1.48264256762297	0.02486	0.1144412	0.997561271841824	0.35763	0.638212	0.43195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.668105	0.65232	0	.	.	5.1	1.08	0.19456	0.205000	0.17154	1.581000	0.27475	-0.553000	0.04888	0.000000	0.06391	0.000000	0.08366	0.088000	0.17685	0.5883:0.1385:0.0:0.2733	6.111	0.19321	393	0.83123	.;.;.;.;.;.	.	.	.	.	.	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	812.98	34	chr11	36633290	.	A	G	812.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.415e+00;DP=750;ExcessHet=0.0000;FS=2.062;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=0.371;SOR=0.982	GT:AD:DP:GQ:PL	0/1:32,35:67:99:827,0,822	20	0	1	0
chr11	44081248	44081248	G	C	exonic	ACCS	.	nonsynonymous SNV	ACCS:NM_001127219:exon12:c.G1039C:p.A347P	.	.	422	1094	5	1	0	7	0.00318907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.997	D	0.953	D	0.000	N	1.000	D	2.275	M	-2.81	D	0.385	D	0.770	D	0.503	2.945	15.82	2.32	0.598	5.232	7.093	0.557	0.0769659298694	0.0007	0.00119808	0.0007	0.0003	0.0006	0	0	0.0009	0.0011	0.0007	0.000705	109	154602	rs148926432	0.0005	0.0005	0.0005	0.0006	0.0109	0.0005	0.0005	0.0088	0.0080	0.0001	0.0008	0.0003	0	0.0001	0.0109	0.0005	0.0010	0.0006	0.0006	0.0006	0.0005	0.0006	0.0010	0.0005	0.0004	0.0007	0.0006	7.212e-05	0	0.0010	0.0009	0	0.0002	0.0068	0.0008	0.0009	0.0004	0.076	0.34269	T	0.128	0.34959	T	0.997	0.70673	D	0.953	0.69275	D	0.000122	0.49741	N	0.173983	0.999544	0.47497	D	2.825	0.82220	M	-2.81	0.91134	D	-2.6	0.55983	D	0.771	0.76853	0.385	0.88870	D	0.770	0.92167	D	10	0.29053783	0.46634	T	0.076966	0.72659	D	0.557	0.81774	.	.	0.842338102691	0.84082	0.7800127921893336	0.77952	0.518512368855	0.49704	0.478349506855	0.35829	T	0.487798	0.81371	T	-0.156722	0.27265	T	-0.0483372	0.67135	D	0.20066425204277	0.20452	T	0.813919	0.46746	T	0.7168837	0.78988	0.8281866	0.90067	0.7168837	0.78990	0.8281866	0.90067	-14.006	0.93075	D	.	.	0.801	0.77329	P	.	.	4.485518	0.70018	25.5	0.99594554742629737	0.73807	0.96630	0.70109	D	AEFBI	0.857320	0.77466	D	0.37340504355911	0.59985	4.18277	0.26701638863367	0.53624	3.530401	0.00390998423309265	0.10332	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.59522	0.37078	0	.	.	5.31	2.32	0.27895	5.107000	0.64439	5.004000	0.46618	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0697:0.1238:0.6783:0.1282	7.093	0.24472	850	0.35610	Aminotransferase, class I/classII	.	.	.	.	.	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	1222.98	43	chr11	44081248	.	G	C	1222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.582e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.29;ReadPosRankSum=1.13;SOR=0.770	GT:AD:DP:GQ:PL	0/1:45,47:92:99:1237,0,1263	20	0	1	0
chr11	55773447	55773447	T	C	exonic	OR5D13	.	nonsynonymous SNV	OR5D13:NM_001001967:exon1:c.T10C:p.S4P,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.001	B	0.003	B	.	.	1.000	N	0.405	N	8.27	T	-1.054	T	0.000	T	0.1	0.456	6.474	0.574	0.338	-1.932	4.447	0.016	0.000542975102324	.	0.000199681	0.0003	0	0	0	0	4.655e-05	0	0.0025	0.0002458	38	154602	rs535209299	0.0002	0.0002	9.523e-05	0.0002	0.0022	0.0001	0.0001	0.0019	0.0018	0	9.977e-05	0	0	0	0.0018	1.449e-05	0.0002	0.0022	9.196e-05	9.186e-05	6.427e-05	0.0001	0.0021	5.526e-05	4.364e-05	0.0011	0.0009	0	0	0.0002	0	0	0	0	0	0.0005	0.0021	.	.	.	.	.	.	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	1	0.08975	N	0.505	0.13445	N	.	.	.	.	.	.	.	.	-1.0540	0.13305	T	0.000	0.00152	T	9	0.0087068975	0.00197	T	5.43E-4	0.00196	T	.	.	0.202	0.11659	.	.	0.06268764927973496	0.06208	.	.	0.356713056564	0.18907	T	0.003505	0.02909	T	-0.694401	0.00039	T	-0.776403	0.02564	T	0.00613445525996514	0.00068	T	0.0831917	0.00611	T	0.07236371	0.16091	0.08958352	0.20957	0.07236371	0.16091	0.08958352	0.20957	-4.283	0.27938	T	.	.	0.074	0.05231	B	.	.	0.031165	0.04500	1.207	0.66974687784790032	0.08217	0.00872	0.03453	N	AEFI	0.029407	0.02768	N	-1.13982037760807	0.05949	0.2726006	-1.18786447026973	0.06111	0.2931922	1.14273383866497E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.15	0.574	0.16553	-1.193000	0.03158	-3.548000	0.02704	0.478000	0.22058	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.1333:0.2171:0.6495	4.447	0.11024	154	0.93967	.	.	.	.	.	.	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	1769.98	33	chr11	55773447	.	T	C	1769.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.323e+00;DP=846;ExcessHet=0.0000;FS=3.509;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.16;ReadPosRankSum=0.818;SOR=0.407	GT:AD:DP:GQ:PL	0/1:55,70:125:99:1784,0,1528	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|2:191,0,64:255:99:0|1:56375918_A_G:2112,2687,10703,0,8016,7823:56375918	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|2:191,0,64:255:99:0|1:56375918_A_G:2112,2687,10703,0,8016,7823:56375918	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|2:191,0,64:255:99:0|1:56375918_A_G:2112,2687,10703,0,8016,7823:56375918	1	0	3	1
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	0/1:63,19:82:42:.:.:42,0,1933	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	0/1:56,33:89:99:.:.:546,0,1209	0	0	21	0
chr11	61898324	61898324	T	C	exonic	RAB3IL1	.	nonsynonymous SNV	RAB3IL1:NM_001271686:exon9:c.A1025G:p.K342R	.	.	424	1078	20	0	0	20	0.00919118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.039	B	0.047	B	0.000	N	0.948	D	0.61	N	1.48	T	-1.080	T	0.045	T	0.137	2.993	15.98	3.56	0.657	3.283	7.123	0.041	0.0039208026233	.	0.00139776	0.0013	0	0.0003	0	0	0.0004	0.0022	0.0075	0.0010737	166	154602	rs150700132	0.0006	0.0006	0.0004	0.0008	0.0069	0.0006	0.0005	0.0064	0.0062	8.961e-05	0.0004	0.0020	0	0	0.0029	0.0001	0.0008	0.0069	0.0003	0.0003	0.0002	0.0004	0.0044	0.0002	0.0002	0.0029	0.0025	2.405e-05	0	0.0007	0.0014	0.0004	0	0.0034	0.0001	0	0.0044	0.158	0.91255	T	0.392	0.92824	T	0.005	0.21116	B	0.003	0.24832	B	0.000043	0.53742	N	0.121890	0.947939	0.37589	D	0.525	0.13617	N	1.45	0.32482	T	-1.5	0.36586	N	0.073	0.06190	-1.0799	0.07368	T	0.045	0.19234	T	10	0.009456545	0.00213	T	0.003921	0.09242	T	0.041	0.10877	0.379	0.39482	0.462287137294	0.45856	0.4396331280742285	0.43880	0.0747485147847	0.08389	0.607589244843	0.53975	T	0.041027	0.25721	T	-0.512453	0.00486	T	-0.505294	0.21799	T	0.0271312275529768	0.01563	T	0.832417	0.51943	T	0.07920888	0.18082	0.09345982	0.22075	0.07920888	0.18081	0.09345982	0.22075	-5.542	0.45495	T	.	.	0.070	0.29311	B	.;.;.	.;.;.	2.405263	0.30907	18.58	0.99606939266614536	0.74575	0.58657	0.30701	D	AEFDGBCI	0.234360	0.35713	N	-0.330949200297805	0.27978	1.53943	-0.171939391558643	0.32573	1.854573	0.999999028030449	0.74766	0.712529	0.81865	0	0.615948	0.52940	0	0.635938	0.45252	0	0.699908	0.69081	0	.	.	4.71	3.56	0.39892	3.352000	0.51954	4.250000	0.42753	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.835000	0.39381	0.0:0.2622:0.0:0.7378	7.123	0.24630	711	0.56613	.;.;.	.	.	.	.	.	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	1241.98	36	chr11	61898324	.	T	C	1241.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.405e+00;DP=824;ExcessHet=0.0000;FS=5.128;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.100e+00;SOR=0.351	GT:AD:DP:GQ:PL	0/1:46,50:96:99:1256,0,1227	20	0	1	0
chr11	62529244	62529244	A	G	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.T5173C:p.F1725L	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.982	D	0.961	D	0.042	U	1.000	N	2.09	M	5.6	T	-0.951	T	0.011	T	0.33	0.426	6.316	3.9	1.519	0.540	12.688	0.147	0.00770319800417	.	.	4.118e-05	0	0	0	0	4.495e-05	0.0011	6.056e-05	3.23e-05	5	154602	rs758756116	4.104e-06	5.472e-06	4.084e-06	4.125e-06	0.0002	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	2.519e-05	0	0.0002	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.06361	T	1.0	0.01155	T	0.982	0.60036	D	0.961	0.70482	D	0.041871	0.23902	U	0.208574	1	0.81001	D	1.645	0.42016	L	5.6	0.00825	T	-2.62	0.56301	D	0.216	0.24135	-0.9505	0.40885	T	0.011	0.03903	T	10	0.20952854	0.37318	T	0.007703	0.20431	T	0.147	0.38986	0.083	0.00760	0.375861065471	0.37200	0.047300225875261476	0.04673	0.0531681059667	0.05860	0.340151846409	0.16461	T	0.532003	0.83822	D	-0.341952	0.05253	T	-0.547439	0.17572	T	0.309723615646362	0.25403	T	0.722728	0.33613	T	0.12941003	0.30227	0.11917451	0.28766	0.12941003	0.30227	0.11917451	0.28765	-6.958	0.53727	T	.	.	0.709	0.73347	P	.	.	1.223940	0.16181	12.37	0.87118178279035641	0.17001	0.16543	0.19437	N	AEFBI	.	.	.	-0.023278539965891	0.40803	2.429478	-0.176246152033239	0.32412	1.843765	0.999739938491684	0.42341	0.67177	0.52595	0	0.708844	0.79440	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	3.9	3.9	0.44240	-0.102000	0.10926	.	.	-0.296000	0.06234	0.000000	0.06391	0.000000	0.08366	0.018000	0.11154	1.0:0.0:0.0:0.0	12.688	0.56323	261	0.89765	.	.	.	.	.	.	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	3606.98	46	chr11	62529244	.	A	G	3606.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.620e-01;DP=1637;ExcessHet=0.0000;FS=0.413;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.10;ReadPosRankSum=0.337;SOR=0.739	GT:AD:DP:GQ:PL	0/1:191,134:325:99:3621,0,5491	20	0	1	0
chr11	62529703	62529703	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A4714G:p.M1572V	.	.	425	1090	7	0	0	7	0.00320073	.	.	738066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.007	B	.	.	1.000	N	1.68	L	5.29	T	-0.864	T	0.004	T	0.122	-1.100	0.143	3.27	1.613	-0.170	5.419	0.040	0.01114810186	0.0009	0.00139776	0.0016	0.0004	0.0029	0	0	0.0022	0.0077	0.0001	0.0016753	259	154602	rs115693058	0.0014	0.0014	0.0014	0.0015	0.0137	0.0014	0.0014	0.0113	0.0104	0.0019	0.0042	0.0121	5.038e-05	1.872e-05	0.0137	0.0011	0.0034	0.0001	0.0017	0.0017	0.0017	0.0017	0.0061	0.0016	0.0015	0.0051	0.0048	0.0005	0	0.0061	0.0101	0	0	0.0068	0.0014	0.0066	0.0002	0.474	0.08384	T	0.037	0.51737	D	0.002	0.09854	B	0.007	0.12992	B	.	.	.	.	1	0.81001	D	1.15	0.29295	L	5.29	0.01100	T	-1.58	0.38151	N	0.361	0.40264	-0.8638	0.50988	T	0.004	0.01295	T	9	0.004496306	0.00092	T	0.011148	0.28477	T	0.040	0.10527	.	.	0.0846915920261	0.08053	0.04973801570905968	0.04916	0.198562835611	0.22235	0.313486933708	0.12434	T	0.157185	0.49968	T	-0.631526	0.00094	T	-0.680201	0.06972	T	0.00524372369048441	0.00057	T	0.670533	0.27914	T	0.06633842	0.14263	0.08281498	0.18931	0.06633842	0.14262	0.08281498	0.18931	-3.778	0.20476	T	.	.	0.100	0.17060	B	.	.	0.557260	0.09259	6.040	0.49762219704924177	0.04266	0.17716	0.19957	N	AEFBI	.	.	.	-0.850912653523334	0.12027	0.583821	-0.823082641606897	0.13937	0.7256371	0.88862766753706	0.25793	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.711	0.71501	0	.	.	4.4	3.27	0.36580	-1.361000	0.02704	.	.	0.603000	0.45986	0.000000	0.06391	0.769000	0.26685	0.030000	0.13115	0.0:0.1036:0.3628:0.5336	5.419	0.15687	263	0.89692	.	.	.	.	.	.	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	2680.98	46	chr11	62529703	.	T	C	2680.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.386e+00;DP=1565;ExcessHet=0.0000;FS=3.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.65;ReadPosRankSum=0.164;SOR=0.471	GT:AD:DP:GQ:PL	0/1:103,109:212:99:2695,0,2940	20	0	1	0
chr11	62578703	62578703	T	C	exonic	TUT1	.	nonsynonymous SNV	TUT1:NM_001367906:exon5:c.A1018G:p.M340V	.	.	.	.	.	.	.	.	.	.	.	2342329	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.68	T	0.0	B	0.002	B	0.001	N	0.999	N	-0.77	N	1.08	T	-0.997	T	0.032	T	0.099	1.124	9.585	1.88	0.079	0.827	7.694	0.013	0.00263711855062	0.0002	.	0.0001	9.61e-05	0.0004	0	0	0.0001	0	6.057e-05	0.0001035	16	154602	rs370164368	5.062e-05	5.062e-05	5.173e-05	4.95e-05	0.0005	4.125e-05	3.778e-05	0.0001	9.193e-05	5.974e-05	0.0002	0	7.557e-05	0	0.0005	4.317e-05	4.967e-05	5.797e-05	0.0001	0.0001	0.0001	8.071e-05	0.0002	7.092e-05	5.748e-05	6.283e-05	4.3e-05	0.0001	0	0.0002	0	0	0	0	8.82e-05	0.0005	0.0002	0.528	0.07071	T	0.954	0.02589	T	0.0	0.02946	B	0.002	0.06944	B	0.001033	0.40562	N	0.309039	0.999072	0.21650	N	0.425	0.12573	N	1.08	0.39401	T	1.16	0.01136	N	0.094	0.08786	-0.9967	0.30838	T	0.032	0.13898	T	10	0.04242021	0.02990	T	0.002637	0.05377	T	0.013	0.01715	.	.	0.259272394797	0.25527	0.21872412852969172	0.21788	0.217758960857	0.24300	0.390337616205	0.23718	T	0.018389	0.14834	T	-0.471461	0.00832	T	-0.621511	0.11067	T	0.0120347094784513	0.00190	T	0.59564	0.22108	T	0.11279546	0.26644	0.07064107	0.15032	0.11279546	0.26643	0.07064107	0.15031	-0.816	0.00817	T	0.14064081583022586	0.15756	0.069	0.02993	B	.;.	.;.	0.728888	0.10979	7.643	0.82584755751925365	0.14269	0.54497	0.29630	D	AEFBI	0.050552	0.08847	N	-0.767855190844079	0.14153	0.7027209	-0.560220049526971	0.20534	1.106786	0.999671941191401	0.41644	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.44	1.88	0.24630	0.836000	0.27198	.	.	0.665000	0.62972	0.988000	0.36536	0.988000	0.31051	0.957000	0.51019	0.0:0.25:0.0:0.75	7.694	0.27747	176	0.93188	.;.	.	.	.	.	.	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	1	0	0	0	0.02381	1121.98	35	chr11	62578703	.	T	C	1121.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.73;DP=861;ExcessHet=0.0000;FS=1.711;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.94;ReadPosRankSum=1.84;SOR=0.965	GT:AD:DP:GQ:PL	0/1:53,41:94:99:1136,0,1385	20	0	1	0
chr11	65210028	65210028	G	A	exonic	CAPN1	.	nonsynonymous SNV	CAPN1:NM_001198868:exon19:c.G1874A:p.R625Q	Spastic paraplegia 76, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	1.0	D	0.999	D	0.000	D	1.000	D	1.63	L	-0.48	T	-0.176	T	0.450	T	0.711	4.915	28.4	4.67	2.129	7.670	15.082	0.462	0.0320228435224	.	.	2.507e-05	0	0	0	0	1.52e-05	0	0.0001	3.88e-05	6	154602	rs537493793	3.491e-05	3.489e-05	3.677e-05	3.302e-05	0.0003	2.698e-05	2.439e-05	0.0002	0.0002	5.974e-05	0	0	0	0	0	2.159e-05	3.313e-05	0.0003	6.58e-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	0.184	0.21634	T	0.24	0.24406	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.91	0.51138	L	-0.48	0.70249	T	-2.09	0.47683	N	0.741	0.74098	-0.1758	0.78286	T	0.450	0.78455	T	10	0.81042963	0.80333	D	0.032023	0.53962	D	0.462	0.75889	0.433	0.48336	0.857887203457	0.85651	0.5902494934118407	0.58954	1.13460432255	0.78742	0.552204847336	0.46168	T	0.303823	0.67615	T	-0.0532359	0.43954	T	-0.0220973	0.68891	D	0.553633305421471	0.34614	D	0.89951	0.64815	D	0.1359926	0.31541	0.14407584	0.34219	0.1359926	0.31541	0.14407584	0.34218	-7.235	0.55732	T	0.3195962581329348	0.41772	0.540	0.68615	A	.;.;.;.;.	.;.;.;.;.	7.489094	0.96568	36	0.99942175682684942	0.99824	0.99635	0.98202	D	AEFDBI	0.962141	0.98364	D	0.665166308954657	0.77354	6.658589	0.642598965661136	0.78063	6.80098	0.999999915586161	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.67	4.67	0.58089	7.793000	0.84418	6.466000	0.55704	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	15.082	0.71794	405	0.82444	EF-hand domain;EF-hand domain;EF-hand domain;EF-hand domain;EF-hand 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	1650.98	62	chr11	65210028	.	G	A	1650.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.978;DP=995;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.05;ReadPosRankSum=-1.290e-01;SOR=0.688	GT:AD:DP:GQ:PL	0/1:73,64:137:99:1665,0,1884	20	0	1	0
chr11	65557857	65557857	-	CAGCAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTGCTG:p.L35_G36insLL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:13,0,12,0:25:99:463,504,1051,0,547,511,504,1051,547,1051	10	0	4	0
chr11	65557857	65557857	-	CAG	exonic	LTBP3	.	nonframeshift insertion	LTBP3:NM_001130144:exon1:c.102_103insCTG:p.L35_G36insL	Dental anomalies and short stature, Autosomal recessive	.	0	120	30	0	76	106	0.111111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	4305.49	23	chr11	65557854	.	CCAG	C,CCAGCAGCAG,CCAGCAG	4305.49	.	AC=4,6,1;AF=0.095,0.143,0.024;AN=42;BaseQRankSum=0.216;DP=999;ExcessHet=7.7275;FS=5.450;InbreedingCoeff=-0.3548;MLEAC=4,6,1;MLEAF=0.095,0.143,0.024;MQ=60.00;MQRankSum=0.00;QD=11.54;ReadPosRankSum=-5.530e-01;SOR=0.468	GT:AD:DP:GQ:PL	0/2:13,0,12,0:25:99:463,504,1051,0,547,511,504,1051,547,1051	10	0	4	0
chr11	66558138	66558138	C	T	exonic	ACTN3	.	nonsynonymous SNV	ACTN3:NM_001104:exon11:c.C1240T:p.R414W	.	.	165	1341	16	0	0	16	0.00593032	.	.	2362859	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	.	0.0005	0.0002	0.0009	0	0	0.0006	0.0023	0	0.0004204	65	154602	rs200842599	0.0004	0.0004	0.0004	0.0004	0.0232	0.0004	0.0004	0.0200	0.0188	0.0006	0.0009	0.0010	0	7.52e-05	0.0232	0.0002	0.0008	0.0003	0.0004	0.0004	0.0004	0.0004	0.0005	0.0003	0.0003	0.0004	0.0003	0.0004	0	0.0003	0.0012	0	9.409e-05	0.0068	0.0005	0.0009	0	.	.	.	0.002	0.79402	D	0.995	0.67487	D	0.923	0.65830	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.494	0.52740	.	.	.	.	.	.	.	0.1524519	0.28795	T	.	.	.	.	.	.	.	0.516659694907	0.51310	0.38647573696586046	0.38562	.	.	0.240386456251	0.02826	T	0.488653	0.81420	T	-0.199188	0.20923	T	-0.118088	0.61959	T	.	.	.	0.992809	0.97620	D	0.38672286	0.59799	0.48722872	0.70325	0.38672286	0.59799	0.48722872	0.70326	-11.918	0.84448	D	.	.	0.092	0.16756	B	.;.	.;.	4.872913	0.79845	27.2	0.99926693476811113	0.99103	0.92654	0.56222	D	AEFDBI	0.820310	0.74112	D	.	.	.	.	.	.	0.170125893884794	0.17722	0.359288	0.05646	0	0.116231	0.03378	0	0.373304	0.06000	0	0.091162	0.02695	0	.	.	4.97	4.97	0.65419	1.879000	0.39253	2.743000	0.34477	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1888:0.8111:0.0:0.0	10.778	0.45563	59	0.97452	.;.	.	.	.	.	.	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	1183.98	35	chr11	66558138	.	C	T	1183.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.27;DP=774;ExcessHet=0.0000;FS=2.554;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.94;ReadPosRankSum=0.402;SOR=0.361	GT:AD:DP:GQ:PL	0/1:28,38:66:99:1198,0,679	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	0/1:23,35,0,0:58:99:1381,0,860,1451,965,2415,1451,965,2415,2415	5	4	8	0
chr11	67438763	67438763	C	T	exonic	CORO1B	.	nonsynonymous SNV	CORO1B:NM_020441:exon10:c.G1252A:p.A418T	.	.	413	1084	22	3	0	28	0.0127505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7	T	0.02	B	0.006	B	0.262	N	0.984	N	0	N	0.05	T	-1.050	T	0.055	T	0.009	1.154	9.699	-0.81	-0.330	-1.670	3.418	0.017	.	0.0088	0.00439297	0.0149	0.0027	0.0156	0	0	0.0239	0.0089	0.0085	0.0013519	209	154602	rs11601245	0.0096	0.0095	0.0097	0.0095	0.0119	0.0094	0.0094	0.0107	0.0106	0.0017	0.0063	0.0094	2.66e-05	0.0019	0.0119	0.0109	0.0089	0.0061	0.0065	0.0065	0.0070	0.0061	0.0107	0.0062	0.0061	0.0100	0.0098	0.0021	0	0.0065	0.0063	0	0.0015	0.0137	0.0107	0.0080	0.0048	0.77	0.03382	T	0.444	0.13177	T	0.02	0.18235	B	0.006	0.12133	B	0.261711	0.15302	N	0.546626	1	0.08975	N	1.01	0.25309	L	0.05	0.61923	T	0.12	0.05604	N	0.062	0.03502	-1.0497	0.14481	T	0.055	0.23110	T	10	0.0027342439	0.00043	T	.	.	.	0.017	0.02790	.	.	0.391000631824	0.38715	0.31806998235902945	0.31719	0.286447106532	0.31039	0.366126835346	0.20275	T	0.077863	0.35757	T	-0.645113	0.00078	T	-0.690042	0.06386	T	0.000803848268730522	0.00007	T	0.386161	0.09499	T	0.024548657	0.01297	0.040052857	0.04240	0.024548657	0.01297	0.040052857	0.04239	-4.299	0.28163	T	.	.	0.070	0.03301	B	.;.	.;.	0.504439	0.08736	5.509	0.91855835879007552	0.21170	0.11437	0.16633	N	ALL	0.202325	0.32892	N	-1.40426417976963	0.02601	0.1150833	-1.38738850081405	0.03386	0.1578181	0.999999999992869	0.74766	0.67177	0.52595	0	0.52208	0.09955	0	0.606735	0.37207	0	0.711	0.71501	0	.	.	4.58	-0.81	0.10313	-1.556000	0.02272	-4.936000	0.01919	-1.563000	0.00944	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3033:0.4363:0.0:0.2605	3.418	0.06957	662	0.61715	.;.	DOC2GP|DOC2GP|DOC2GP	Esophagus_Mucosa|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	RHOD|RHOD|RHOD|RHOD|RHOD|RHOD	Adipose_Visceral_Omentum|Esophagus_Mucosa|Heart_Left_Ventricle|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	510.98	39	chr11	67438763	.	C	T	510.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.054e+00;DP=710;ExcessHet=0.0000;FS=1.289;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=0.613;SOR=0.604	GT:AD:DP:GQ:PL	0/1:16,21:37:99:525,0,397	20	0	1	0
chr11	67646962	67646962	C	T	exonic	ACY3	.	nonsynonymous SNV	ACY3:NM_080658:exon3:c.G82A:p.V28I,	.	.	409	1102	11	0	0	11	0.00496614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.021	B	0.034	B	0.000	N	1.000	D	0.785	N	-4.61	D	0.246	D	0.735	D	0.044	1.231	9.993	3.12	0.829	0.581	11.124	0.329	.	0.0069	0.00239617	0.0056	0.0118	0.0028	0	0.0015	0.0072	0.0032	0.0024	0.0029107	450	154602	rs115626671	0.0035	0.0035	0.0035	0.0035	0.0093	0.0034	0.0034	0.0084	0.0081	0.0093	0.0017	0.0127	0	0.0011	0.0033	0.0035	0.0043	0.0023	0.0049	0.0049	0.0053	0.0045	0.0090	0.0046	0.0045	0.0082	0.0079	0.0090	0	0.0032	0.0187	0.0002	0.0008	0.0102	0.0033	0.0052	0.0021	0.115	0.28520	T	0.335	0.18286	T	0.021	0.18474	B	0.034	0.22546	B	0.000068	0.52346	N	0.073899	0.990459	0.81001	D	0.86	0.21358	L	-4.61	0.97866	D	-0.4	0.13805	N	0.076	0.05037	0.246	0.86674	D	0.735	0.90940	D	10	0.0071730018	0.00163	T	.	.	.	0.329	0.65126	.	.	0.555237559564	0.55182	0.37514925391427195	0.37428	0.111891211403	0.12625	0.499867558479	0.38809	T	0.301984	0.67440	T	-0.342141	0.05241	T	-0.25642	0.49181	T	0.00913604347744883	0.00115	T	0.506749	0.16047	T	0.03603172	0.04356	0.07056556	0.15008	0.03603172	0.04356	0.07056556	0.15008	-5.763	0.44250	T	.	.	0.087	0.11027	B	.	.	-0.242587	0.02879	0.411	0.97025906347203561	0.32047	0.24917	0.22541	N	AEFGBHCIJ	0.231075	0.35436	N	-1.0672459585533	0.07253	0.3363872	-1.06451129399661	0.08407	0.413243	0.999999999999823	0.74766	0.393558	0.05922	0	0.518115	0.08659	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.03	3.12	0.34986	0.419000	0.20967	-2.831000	0.03316	-2.824000	0.00179	0.031000	0.20493	0.000000	0.08366	0.000000	0.00833	0.0:0.9047:0.0:0.0953	11.124	0.47529	774	0.48577	.	.	.	.	.	.	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	1258.98	34	chr11	67646962	.	C	T	1258.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.849e+00;DP=876;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.95;ReadPosRankSum=-9.680e-01;SOR=0.680	GT:AD:DP:GQ:PL	0/1:59,56:115:99:1273,0,1475	20	0	1	0
chr11	78017143	78017143	G	A	exonic	KCTD14	.	nonsynonymous SNV	KCTD14:NM_023930:exon2:c.C218T:p.A73V	.	.	435	1086	1	0	0	1	0.000460193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.996	D	0.878	P	0.014	N	1.000	D	1.58	L	-1.05	T	0.025	D	0.505	D	0.125	3.107	16.38	3.96	1.241	3.393	14.275	0.292	0.0436240409	7.7e-05	.	5.771e-05	0	8.646e-05	0	0	1.5e-05	0	0.0003	5.17e-05	8	154602	rs376113147	3.762e-05	3.762e-05	1.633e-05	5.913e-05	0.0004	2.96e-05	2.656e-05	0.0003	0.0003	5.974e-05	2.236e-05	0	2.52e-05	1.872e-05	0	1.259e-05	0	0.0004	5.254e-05	5.25e-05	5.141e-05	5.372e-05	0.0004	2.556e-05	1.829e-05	7.301e-05	3.033e-05	7.221e-05	0	0	0	0	0	0	2.94e-05	0.0005	0.0004	0.009	0.57480	D	0.026	0.55759	D	0.996	0.68779	D	0.878	0.62312	P	0.014239	0.28595	N	0.365174	0.999978	0.81001	N	1.69	0.43327	L	-1.05	0.76690	T	-2.97	0.61865	D	0.108	0.32481	0.025	0.82757	D	0.505	0.81353	D	10	0.18477237	0.33867	T	0.043624	0.61079	D	0.292	0.61157	.	.	0.719670081936	0.71720	0.41224190705912317	0.41140	0.595325641885	0.54813	0.27042979002	0.06197	T	0.502009	0.82199	D	-0.321371	0.06786	T	-0.377437	0.36021	T	0.381899744272232	0.28255	T	0.252475	0.05976	T	0.14599954	0.33442	0.16266274	0.37773	0.14599954	0.33442	0.16266274	0.37773	-5.934	0.45724	T	.	.	0.142	0.31125	B	.;.	.;.	2.512513	0.32452	19.05	0.99885617526230286	0.96049	0.64932	0.32569	D	AEFDBCI	0.332377	0.43180	N	0.0377137891733741	0.43580	2.648007	-0.121343577228094	0.34530	1.987321	0.999999933286629	0.74766	0.650006	0.45971	0	0.588066	0.40923	0	0.606735	0.37207	0	0.567892	0.33627	0	.	.	4.89	3.96	0.45097	3.643000	0.54109	1.474000	0.26774	0.676000	0.76740	0.551000	0.27354	0.003000	0.18671	0.018000	0.11154	0.0:0.1498:0.8502:0.0	14.275	0.65726	542	0.72843	Potassium channel tetramerisation-type BTB domain|BTB/POZ 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	1526.98	33	chr11	78017143	.	G	A	1526.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.769e+00;DP=821;ExcessHet=0.0000;FS=2.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.63;ReadPosRankSum=-1.747e+00;SOR=1.008	GT:AD:DP:GQ:PL	0/1:55,57:112:99:1541,0,1530	20	0	1	0
chr11	85685228	85685228	C	A	exonic	CCDC89	.	nonsynonymous SNV	CCDC89:NM_152723:exon1:c.G903T:p.E301D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.925	P	0.621	P	0.002	N	0.599	D	2.175	M	.	.	-0.495	T	0.161	T	0.258	1.351	10.44	5.15	1.577	0.462	9.717	0.128	0.0195568552878	0.0052	0.00159744	0.0040	0.0009	0.0021	0	0.0039	0.0060	0.0011	0.0016	0.0041267	638	154602	rs146974066	0.0058	0.0058	0.0059	0.0057	0.0068	0.0057	0.0057	0.0067	0.0066	0.0007	0.0024	0.0074	0	0.0045	0.0012	0.0068	0.0047	0.0011	0.0036	0.0036	0.0037	0.0035	0.0062	0.0034	0.0033	0.0057	0.0055	0.0008	0	0.0020	0.0078	0	0.0026	0.0034	0.0062	0.0024	0.0008	0.099	0.30656	T	0.047	0.48855	D	0.925	0.51395	P	0.621	0.51426	P	0.001549	0.38671	N	0.269234	0.599066	0.32522	D	2.19	0.61577	M	.	.	.	-1.34	0.33401	N	0.183	0.19861	-0.4952	0.68822	T	0.161	0.49665	T	8	0.0034833848	0.00062	T	0.019557	0.41954	T	0.128	0.35103	0.043	0.00046	0.226586394389	0.22295	0.045058852306013426	0.04449	0.47051067116	0.46324	0.337947577238	0.16130	T	0.074303	0.34905	T	-0.466492	0.00895	T	-0.438294	0.29000	T	0.0424989677339832	0.04147	T	0.423358	0.11306	T	0.06837347	0.14889	0.08507403	0.19616	0.06837347	0.14889	0.08507403	0.19615	-5.205	0.38992	T	.	.	0.155	0.34294	B	.	.	1.913561	0.24307	16.35	0.99269866417868635	0.57525	0.63127	0.31993	D	AEFDGBIJ	0.265229	0.38240	N	-0.0563202572452191	0.39321	2.316858	-0.118862324188583	0.34630	1.994169	0.999999981591651	0.74766	0.57788	0.32782	0	0.573888	0.26702	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	6.06	5.15	0.70287	0.278000	0.18514	0.411000	0.18111	-0.876000	0.02500	0.158000	0.23769	0.028000	0.21151	0.042000	0.14466	0.0:0.7936:0.0:0.2064	9.717	0.39444	356	0.85138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2291.98	36	chr11	85685228	.	C	A	2291.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.934e+00;DP=878;ExcessHet=0.0000;FS=5.231;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.32;ReadPosRankSum=-3.630e-01;SOR=1.051	GT:AD:DP:GQ:PL	0/1:99,87:186:99:2306,0,2819	20	0	1	0
chr11	89798308	89798308	G	T	exonic	TRIM49	.	nonsynonymous SNV	TRIM49:NM_020358:exon8:c.C1181A:p.T394N,	.	.	449	1068	4	1	0	6	0.00280112	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.722	P	0.562	P	.	.	1.000	N	1.43	L	0.31	T	-0.935	T	0.169	T	0.031	0.049	4.268	-1.0	-0.326	0.355	4.016	0.121	.	0.0018	0.0125799	0.0001	0.0001	9.491e-05	0.0001	0.0008	4.592e-05	0	0.0001	0.0024205	63	26028	rs200639518	0.0007	0.0073	0.0007	0.0007	0.0042	0.0006	0.0006	0.0037	0.0035	0.0001	0.0042	0.0003	0.0011	0.0004	0.0005	0.0006	0.0007	0.0004	7.287e-05	0.0008	7.075e-05	7.512e-05	0.0002	3.877e-05	2.979e-05	4.978e-05	3.576e-05	0	0	0.0002	0	0	0.0001	0	0.0001	0	0	0.395	0.28646	T	0.339	0.18071	T	0.722	0.42387	P	0.562	0.49608	P	.	.	.	.	1	0.08975	N	1.95	0.52479	M	0.31	0.58613	T	-2.08	0.53096	N	0.066	0.09772	-0.9354	0.43333	T	0.169	0.50939	T	8	0.006199956	0.00140	T	.	.	.	0.121	0.33580	.	.	0.0675242888579	0.06100	0.05331972406262152	0.05273	2.10380895774	0.94866	0.354791879654	0.18626	T	0.014711	0.12475	T	-0.306754	0.08037	T	-0.678407	0.07081	T	0.0340317392981548	0.02643	T	0.591241	0.21771	T	0.12427414	0.29161	0.10840994	0.26113	0.12427414	0.29161	0.10840994	0.26112	-5.56	0.42425	T	.	.	0.224	0.48438	B	.;.	.;.	1.275696	0.16750	12.74	0.52840737035453278	0.04824	0.01720	0.05450	N	AEFI	0.032898	0.03801	N	-0.872378462668012	0.11503	0.5554555	-1.10799681000859	0.07546	0.3674943	1.25965538376514E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.21	-1.0	0.09675	-1.681000	0.02039	-7.700000	0.01103	0.480000	0.22105	0.000000	0.06391	0.000000	0.08366	0.030000	0.13115	0.4816:0.0:0.5184:0.0	4.016	0.09133	834	0.38640	SPRY domain|B30.2/SPRY domain|SPRY domain;SPRY domain|B30.2/SPRY domain|SPRY 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	44.33	34	chr11	89798308	.	G	T	44.33	.	AC=2;AF=0.048;AN=42;DP=689;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.8834;MLEAC=1;MLEAF=0.024;MQ=27.00;QD=22.16;SOR=2.303	GT:AD:DP:GQ:PL	1/1:0,2:2:6:64,6,0	20	1	0	0
chr11	90086869	90086869	G	A	exonic	UBTFL1	.	nonsynonymous SNV	UBTFL1:NM_001143975:exon1:c.G920A:p.G307D,	.	.	566	937	16	3	0	22	0.0116034	.	.	2813651	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0260	0.0208	0.25	0	.	0.0326	0	0	0.0015368	40	26028	rs199875717	0.0084	0.0083	0.0084	0.0083	0.0302	0.0082	0.0081	0.0253	0.0234	0.0013	0.0084	0.0069	0	0.0015	0.0302	0.0099	0.0076	0.0044	0.0060	0.0062	0.0067	0.0052	0.0093	0.0056	0.0055	0.0086	0.0084	0.0014	0.0423	0.0065	0.0075	0	0.0008	0.0305	0.0093	0.0059	0.0031	.	.	.	0.692	0.05882	T	0.974	0.57829	D	0.497	0.47562	P	.	.	.	.	.	.	.	1.385	0.34509	L	.	.	.	.	.	.	0.064	0.03613	.	.	.	.	.	.	.	0.0019410849	0.00027	T	.	.	.	.	.	.	.	0.0482279557977	0.04254	0.1124879100645688	0.11177	.	.	0.672924399376	0.63254	T	0.023023	0.17644	T	-0.438589	0.01318	T	-0.407082	0.32562	T	.	.	.	0.425557	0.11413	T	0.106925346	0.25282	0.20098138	0.44057	0.106925346	0.25282	0.20098138	0.44056	-7.118	0.54890	T	.	.	0.375	0.58108	A	.	.	2.076388	0.26409	17.11	0.79514727965751031	0.12776	0.00824	0.03324	N	AEFI	.	.	.	.	.	.	.	.	.	1.97945905968477E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0431032	0.02392	0.999	0.999	0.18981	1.269000	0.32677	-2.534000	0.03638	0.311000	0.19140	0.007000	0.17678	0.000000	0.08366	0.463000	0.28185	0.0:0.0:1.0:0.0	5.393	0.15554	911	0.21964	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.075	586.74	19	chr11	90086869	.	G	A	586.74	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-8.800e-02;DP=587;ExcessHet=0.0000;FS=1.227;InbreedingCoeff=0.6392;MLEAC=3;MLEAF=0.075;MQ=30.97;MQRankSum=1.81;QD=9.31;ReadPosRankSum=0.393;SOR=0.400	GT:AD:DP:GQ:PL	0/1:40,13:53:99:278,0,1096	18	1	1	1
chr11	94420176	94420176	A	T	exonic	MRE11	.	nonsynonymous SNV	MRE11:NM_005590:exon19:c.T1992A:p.D664E	Ataxia-telangiectasia-like disorder, Autosomal recessive	.	60	1460	2	0	0	2	0.000684463	.	.	183486	Ataxia-telangiectasia-like_disorder_1|Hereditary_cancer-predisposing_syndrome|Ataxia-telangiectasia-like_disorder	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391,Orphanet:251347|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.506	P	0.131	B	0.001	N	1.000	D	0.57	N	-0.88	T	-0.434	T	0.163	T	0.247	-0.113	3.447	-11.1	-4.790	-2.810	18.182	0.259	0.0532914926222	.	.	8.32e-06	0	0	0	0	1.514e-05	0	0	6.5e-06	1	154602	rs778093337	2.583e-05	2.736e-05	2.646e-05	2.521e-05	0.0007	1.906e-05	1.664e-05	0.0002	0.0001	0	0	0	0	0	0.0007	1.739e-05	3.359e-05	0.0001	2.628e-05	2.627e-05	5.138e-05	0	4.411e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.411e-05	0.0005	0	0.059	0.37536	T	0.457	0.12704	T	0.018	0.37245	B	0.007	0.32951	B	0.000588	0.43095	N	0.205372	0.997381	0.22680	N	1.04	0.26193	L	-0.89	0.74896	T	-0.16	0.14390	N	0.226	0.33904	-0.4338	0.70939	T	0.163	0.49963	T	10	0.035371542	0.01783	T	0.053291	0.65412	D	0.259	0.57090	0.077	0.00572	0.397540356873	0.39371	0.06972769128910185	0.06910	0.081518929191	0.09173	0.474381804466	0.35284	T	0.066553	0.32976	T	-0.238187	0.15581	T	-0.398387	0.33573	T	0.0597301533724381	0.07126	T	0.589041	0.22108	T	0.0444385	0.07103	0.058696467	0.10888	0.0444385	0.07103	0.058696467	0.10888	-3.682	0.19052	T	.	.	0.080	0.20117	B	.;.;.;.	.;.;.;.	-1.607805	0.00236	0.004	0.59608077311271579	0.06264	0.01020	0.03837	N	AEFBI	0.053319	0.09597	N	-2.32417053940272	0.00040	0.001718942	-2.44227974892288	0.00031	0.001380289	0.999999982115602	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.53	-11.1	0.00116	-3.043000	0.00694	-5.529000	0.01686	-2.570000	0.00242	0.006000	0.17386	0.000000	0.08366	0.721000	0.34804	0.212:0.0:0.7079:0.0802	18.182	0.89713	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	1	0	0	0	0.02381	825.98	39	chr11	94420176	.	A	T	825.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.328;DP=781;ExcessHet=0.0000;FS=3.214;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.63;ReadPosRankSum=1.48;SOR=0.388	GT:AD:DP:GQ:PL	0/1:36,35:71:99:840,0,891	20	0	1	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	1/1:1,112,0:113:99:.:.:3627,310,0,3630,332,3651	0	17	3	0
chr11	101453004	101453004	A	C	exonic	TRPC6	.	nonsynonymous SNV	TRPC6:NM_004621:exon13:c.T2747G:p.L916R,	Glomerulosclerosis, focal segmental, 2	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.992	D	0.000	D	1.000	D	1.895	L	-2.15	D	0.584	D	0.752	D	0.904	4.459	23.8	5.65	2.164	9.108	15.936	0.718	0.198228722233	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.83351	D	0.998	0.90584	D	0.953	0.80445	D	0.000001	0.84330	D	0.056327	1	0.81001	D	2.475	0.71894	M	-2.15	0.86481	D	-3.63	0.69714	D	0.664	0.73465	0.584	0.91684	D	0.752	0.91556	D	10	0.7678459	0.76845	D	0.198229	0.86583	D	0.718	0.90011	0.291	0.25241	0.970006060122	0.96968	0.8545119816675583	0.85414	0.228127400147	0.25366	0.542315840721	0.44773	T	0.581373	0.86297	D	0.414916	0.90749	D	0.358222	0.90634	D	0.996555924415588	0.89586	D	0.927207	0.73169	D	0.95527554	0.96801	0.9036303	0.95234	0.95527554	0.96802	0.9036303	0.95235	-12.065	0.85166	D	.	.	0.759	0.75443	P	.;.;.;.	.;.;.;.	5.190470	0.87047	29.1	0.99806187771427013	0.89085	0.99183	0.92454	D	AEFI	0.947203	0.95750	D	0.788883236141922	0.85404	8.566191	0.788697792693324	0.88997	9.797544	0.999999387240195	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.65	5.65	0.86881	9.098000	0.93552	11.151000	0.87351	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.936	0.79500	811	0.42639	.;.;.;.	.	.	.	.	.	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	1523.98	35	chr11	101453004	.	A	C	1523.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.232e+00;DP=819;ExcessHet=0.0000;FS=1.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.03;ReadPosRankSum=-2.660e-01;SOR=0.518	GT:AD:DP:GQ:PL	0/1:52,65:117:99:1538,0,1329	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|1:121,53,0:174:99:0|1:106010659_C_T:479,0,3438,838,3589,4427:106010659	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|1:121,53,0:174:99:0|1:106010659_C_T:479,0,3438,838,3589,4427:106010659	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|1:121,53:174:99:0|1:106010659_C_T:479,0,3438:106010659	2	0	13	6
chr11	107551891	107551891	C	A	exonic	ALKBH8	.	nonsynonymous SNV	ALKBH8:NM_001301010:exon6:c.G617T:p.S206I	.	.	474	1047	1	0	0	1	0.000477327	.	.	2431171	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.863	P	0.355	B	0.036	N	1.000	N	1.01	L	2.74	T	-1.059	T	0.052	T	0.381	0.453	6.459	4.86	1.451	0.846	6.633	0.082	0.0077941741034	.	.	5.134e-05	0	8.856e-05	0	0	7.835e-05	0	0	3.88e-05	6	154602	rs777536795	3.03e-05	3.694e-05	2.724e-05	3.341e-05	0.0004	2.269e-05	2.012e-05	6.27e-05	2.587e-05	0	6.287e-05	0	0	0	0.0004	3.058e-05	7.02e-05	1.371e-05	6.594e-06	6.569e-06	1.289e-05	0	1.473e-05	0	0	.	.	0	0	0	0	0	0	0	1.473e-05	0	0	0.221	0.27544	T	0.221	0.29945	T	0.863	0.47474	P	0.355	0.42984	B	0.036160	0.24557	N	0.470065	1	0.08975	N	1.4	0.35362	L	2.74	0.30133	T	-1.83	0.50830	N	0.269	0.30574	-1.0588	0.12058	T	0.052	0.22230	T	10	0.168926	0.31471	T	0.007794	0.20668	T	0.082	0.23913	0.473	0.54859	0.284150004643	0.28039	0.33830989140630435	0.33743	0.0189235159558	0.01841	0.316958189011	0.12960	T	0.071908	0.34324	T	-0.289203	0.09716	T	-0.450542	0.27637	T	0.219402134418488	0.21434	T	0.427157	0.11500	T	0.17186342	0.37845	0.08536368	0.19705	0.17186342	0.37845	0.08536368	0.19705	-4.931	0.36082	T	.	.	0.083	0.09239	B	.;.;.;.	.;.;.;.	1.836377	0.23329	15.98	0.89536537154108053	0.18881	0.14661	0.18520	N	AEFBI	0.142377	0.26480	N	-0.122959219538911	0.36394	2.103061	-0.125296529169773	0.34374	1.976508	0.25870025785864	0.18764	0.732398	0.92422	0	0.708844	0.79440	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.77	4.86	0.62624	0.871000	0.27675	-0.292000	0.10184	-0.177000	0.10537	0.001000	0.13787	0.000000	0.08366	0.374000	0.26200	0.0:0.6823:0.1593:0.1584	6.633	0.22060	744	0.52588	Alpha-ketoglutarate-dependent dioxygenase AlkB-like;.;Alpha-ketoglutarate-dependent dioxygenase AlkB-like;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	755.98	33	chr11	107551891	.	C	A	755.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.951;DP=744;ExcessHet=0.0000;FS=1.903;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.08;ReadPosRankSum=-1.185e+00;SOR=0.941	GT:AD:DP:GQ:PL	0/1:42,33:75:99:770,0,948	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	2/2:0,0,105:105:99:.:.:4565,4565,4565,322,322,0	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	2/2:0,0,105:105:99:.:.:4565,4565,4565,322,322,0	1	0	0	0
chr11	120480032	120480032	A	C	exonic	ARHGEF12	.	nonsynonymous SNV	ARHGEF12:NM_001198665:exon37:c.A3782C:p.H1261P	.	.	0	1518	4	0	0	4	0.00131579	.	.	2370349	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.29	T	0.256	B	0.099	B	0.029	N	1.000	N	0.695	N	-0.12	T	-1.021	T	0.133	T	0.476	2.061	12.85	1.95	0.077	0.749	4.927	0.103	0.0147333029515	.	.	8.281e-05	0.0001	0.0003	0	0	8.991e-05	0	0	8.41e-05	13	154602	rs770685105	0.0001	0.0001	0.0001	8.663e-05	0.0017	8.914e-05	8.399e-05	0.0009	0.0007	5.974e-05	0.0005	0	0	0	0.0017	9.352e-05	0.0002	1.159e-05	5.916e-05	5.911e-05	8.994e-05	2.691e-05	0.0001	3.078e-05	2.211e-05	4.765e-05	3.339e-05	0	0	0.0001	0	0	0	0	0.0001	0	0	0.031	0.46513	D	0.225	0.28669	T	0.256	0.31372	B	0.099	0.30579	B	0.029262	0.25478	N	0.276731	0.99999	0.08975	N	1.59	0.40313	L	-0.23	0.66652	T	-0.6	0.18459	N	0.52	0.59986	-1.0213	0.23292	T	0.133	0.44504	T	10	0.19680882	0.35587	T	0.014733	0.35036	T	0.103	0.29403	.	.	0.690006358082	0.68734	0.17300768178598638	0.17220	0.110598979453	0.12488	0.274334073067	0.06714	T	0.063104	0.32091	T	-0.274166	0.11297	T	-0.297446	0.44994	T	0.0376149530784323	0.03264	T	0.709329	0.31993	T	0.0779048	0.17710	0.08814408	0.20533	0.0779048	0.17709	0.08814408	0.20533	-3.084	0.11113	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	1.537852	0.19722	14.41	0.93599610978937409	0.23457	0.68800	0.33940	D	AEFBI	0.240914	0.36262	N	-0.547643435791388	0.20558	1.084594	-0.472875998191769	0.22905	1.246385	0.0948511541239033	0.16214	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.6	1.95	0.25130	0.765000	0.26211	0.412000	0.18122	0.756000	0.94297	0.950000	0.33075	0.001000	0.17328	0.928000	0.46473	0.4731:0.1674:0.3595:0.0	4.927	0.13252	913	0.21160	.;.;.	.	.	.	.	.	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	2075.98	35	chr11	120480032	.	A	C	2075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=866;ExcessHet=0.0000;FS=1.190;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-5.500e-01;SOR=0.598	GT:AD:DP:GQ:PL	0/1:94,77:171:99:2090,0,2572	20	0	1	0
chr11	124681457	124681457	G	A	exonic	SPA17	.	nonsynonymous SNV	SPA17:NM_017425:exon3:c.G223A:p.E75K,	.	.	439	1081	2	0	0	2	0.000924214	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.0	B	0.035	N	1.000	N	-1.59	N	.	.	-0.948	T	0.016	T	0.101	-0.043	3.797	0.645	-0.131	0.452	10.005	0.025	0.0014225828717	.	0.000399361	4.961e-05	0	0	0.0002	0	3.007e-05	0	0.0001	5.17e-05	8	154602	rs187798202	3.712e-05	3.899e-05	3.207e-05	4.223e-05	0.0001	2.896e-05	2.626e-05	5.701e-05	4.263e-05	3.098e-05	4.782e-05	0	0	0	0	3.662e-05	1.704e-05	0.0001	2.629e-05	2.625e-05	2.572e-05	2.688e-05	0.0002	8.14e-06	5.14e-06	7.98e-06	2.99e-06	4.816e-05	0	0	0	0.0002	0	0	0	0	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.0	0.01387	B	0.035459	0.24643	N	0.379200	0.988686	0.24383	N	-2.08	0.00163	N	.	.	.	1.2	0.01078	N	0.237	0.26717	-0.9477	0.41364	T	0.016	0.06473	T	9	0.026768506	0.00836	T	0.001423	0.02113	T	0.025	0.05312	.	.	0.0954503805726	0.09146	0.2286648874673754	0.22781	0.0174709333774	0.01699	0.274932265282	0.06795	T	0.003838	0.03252	T	-0.435439	0.01376	T	-0.614945	0.11587	T	0.021227203309536	0.00824	T	0.70313	0.31322	T	0.025251266	0.01442	0.052173365	0.08543	0.025251266	0.01442	0.052173365	0.08542	0.305	0.00257	T	.	.	0.058	0.00767	B	.;.	.;.	0.336764	0.07107	3.679	0.74644729493588258	0.10773	0.13645	0.17972	N	AEFBI	0.031078	0.03251	N	-1.15128946793707	0.05759	0.2633691	-0.894943676774458	0.12213	0.6269239	1.2167206528848E-5	0.02871	0.706298	0.61202	0	0.670034	0.63936	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.81	0.645	0.16954	0.428000	0.21114	.	.	-0.715000	0.03906	0.998000	0.41325	1.000000	0.68203	0.094000	0.17991	0.364:0.5639:0.0721:0.0	10.005	0.41120	872	0.31118	.;.	.	.	.	.	.	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	chr11	124681457	.	G	A	517.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.553;DP=624;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=-2.580e+00;SOR=0.507	GT:AD:DP:GQ:PL	0/1:11,21:32:99:532,0,227	20	0	1	0
chr11	124887133	124887133	G	A	exonic	ROBO4	.	nonsynonymous SNV	ROBO4:NM_001301088:exon15:c.C1844T:p.P615L	.	.	397	1095	27	3	0	33	0.0148448	.	.	2852051	ROBO4-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.45	T	0.001	B	0.005	B	0.857	N	0.862	N	1.085	L	0.28	T	-0.963	T	0.126	T	0.049	1.795	11.96	3.44	0.824	1.833	9.307	0.068	.	0.0038	0.0061901	0.0052	0.0004	0.0029	0.0003	0.0011	0.0045	0.0092	0.0169	0.0049999	773	154602	rs146276743	0.0050	0.0050	0.0045	0.0055	0.0171	0.0049	0.0049	0.0164	0.0161	0.0007	0.0022	0.0136	7.557e-05	0.0019	0.0080	0.0044	0.0061	0.0171	0.0039	0.0039	0.0038	0.0039	0.0137	0.0036	0.0035	0.0110	0.0101	0.0008	0	0.0039	0.0141	0.0004	0.0008	0.0034	0.0053	0.0052	0.0137	0.124	0.34621	T	0.056	0.46632	T	0.001	0.07471	B	0.001	0.04355	B	0.857056	0.07093	N	1.099000	0.961538	0.28344	N	1.095	0.27400	L	-0.09	0.64086	T	-0.72	0.38540	N	0.095	0.13055	-0.9629	0.38625	T	0.126	0.43194	T	10	0.0053919554	0.00118	T	.	.	.	0.068	0.19811	.	.	0.726765420178	0.72434	0.4307432230054054	0.42991	0.311846561494	0.33486	0.324699938297	0.14132	T	0.076017	0.35318	T	-0.545079	0.00312	T	-0.541465	0.18154	T	0.00982392410411275	0.00129	T	0.768023	0.39669	T	0.059982676	0.12254	0.053915348	0.09172	0.06661468	0.14349	0.053915348	0.09171	-3.713	0.19510	T	0.2919736196309515	0.38863	0.092	0.13503	B	.;.	.;.	2.522208	0.32594	19.09	0.9924386738709855	0.56630	0.61351	0.31459	D	AEFDBCI	0.176861	0.30409	N	-0.570417262163298	0.19849	1.041997	-0.497944637819832	0.22211	1.205256	0.998964941772589	0.38084	0.722319	0.85440	0	0.59043	0.45803	0	0.59043	0.30614	0	0.735409	0.98432	0	.	.	4.35	3.44	0.38486	1.090000	0.30514	.	.	0.674000	0.70861	0.876000	0.30908	1.000000	0.68203	0.033000	0.13494	0.103:0.0:0.897:0.0	9.307	0.37040	711	0.56613	.;.	.	.	.	.	.	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	600.98	35	chr11	124887133	.	G	A	600.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.78;DP=782;ExcessHet=0.0000;FS=8.010;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.13;ReadPosRankSum=-2.222e+00;SOR=1.273	GT:AD:DP:GQ:PL	0/1:34,20:54:99:615,0,1033	20	0	1	0
chr11	126267174	126267174	C	T	splicing	SRPRA	NM_001177842:exon3:c.442+1G>A;NM_003139:exon4:c.526+1G>A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	3.053	16.19	4.92	2.546	7.567	18.315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.442e-06	6.896e-06	1.441e-06	1.444e-06	.	2.4e-07	9e-08	.	.	0	0	0	0	0	0	0	3.458e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310434	0.83778	D	0.208141	0.83568	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	4.965066	0.82122	27.7	0.99194026174643468	0.55083	0.97098	0.72678	D	AEFGBHCI	.	.	.	1.03996377570364	0.96847	15.22591	0.865788061174193	0.93904	12.36264	1.0	0.98316	0.12189	0.03102	0	0.194	0.04241	0	0.17184	0.04098	0	0.119812	0.03901	0	0.982774	0.89207	4.92	4.92	0.64147	7.641000	0.82513	7.588000	0.61163	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.702000	0.34203	0.0:1.0:0.0:0.0	18.315	0.90157	804	0.43891	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	31.98	41	chr11	126267174	.	C	T	31.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.021e+00;DP=950;ExcessHet=0.0000;FS=98.721;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.21;ReadPosRankSum=0.911;SOR=6.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:120,32:152:46:0|1:126267174_C_T:46,0,3691:126267174	20	0	1	0
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	1/1:0,28,0:28:85:1233,85,0,1233,85,1233	3	7	5	0
chr12	322426	322426	T	C	exonic	KDM5A	.	nonsynonymous SNV	KDM5A:NM_001042603:exon17:c.A2417G:p.Q806R,	.	.	0	1520	2	0	0	2	0.000657462	.	.	2436564	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	1	T	0.003	B	0.008	B	0.000	D	1.000	D	0.425	N	0.89	T	-1.057	T	0.064	T	0.543	0.867	8.514	5.73	2.179	5.930	16.021	0.184	0.00674458429109	0.0003	.	0.0002	0.0001	0.0003	0	0	0.0003	0	0.0001	0.0001746	27	154602	rs201777598	9.794e-05	9.85e-05	7.497e-05	0.0001	0.0012	8.454e-05	7.931e-05	0.0006	0.0004	0	0.0003	0.0007	0	0	0.0012	5.126e-05	0.0003	0.0003	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0006	0.0004	2.405e-05	0	0.0009	0.0009	0	0	0	0.0001	0	0.0004	0.989	0.02600	T	0.677	0.06166	T	0.003	0.11197	B	0.008	0.13708	B	0.000009	0.62929	D	0.112602	0.999827	0.49512	D	0.22	0.09567	N	0.89	0.45636	T	-0.07	0.08033	N	0.397	0.43803	-1.0574	0.12414	T	0.064	0.26349	T	10	0.04067704	0.02657	T	0.006745	0.17812	T	0.184	0.45763	.	.	0.319322697148	0.31537	0.3529178467180857	0.35205	0.714059627268	0.61863	0.731037020683	0.71657	T	0.071377	0.34191	T	-0.315306	0.07290	T	-0.362731	0.37735	T	0.0697902664542198	0.08622	T	0.773923	0.40554	T	0.11480643	0.27099	0.15728977	0.36786	0.11480643	0.27099	0.15728977	0.36785	-8.847	0.66707	D	.	.	0.252	0.48624	B	.;.	.;.	3.467582	0.48358	22.6	0.62466588460455807	0.06970	0.99338	0.94702	D	AEFDBI	0.673619	0.63962	D	-0.240341654700202	0.31492	1.766291	0.0172717110923356	0.40516	2.419311	0.999999717276851	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	5.73	0.89730	5.908000	0.69653	7.853000	0.71059	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.021	0.80286	873	0.30802	Lysine-specific demethylase-like domain;Lysine-specific demethylase-like 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	644.98	34	chr12	322426	.	T	C	644.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.690e-01;DP=737;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.93;ReadPosRankSum=1.41;SOR=0.570	GT:AD:DP:GQ:PL	0/1:32,27:59:99:659,0,831	20	0	1	0
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	0/1:53,21:85:25:.:.:25,0,782	3	0	18	0
chr12	6317909	6317909	G	T	exonic	PLEKHG6	.	nonsynonymous SNV	PLEKHG6:NM_001144857:exon9:c.G728T:p.G243V	.	.	418	1057	43	4	0	51	0.0235566	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.977	D	0.786	P	0.000	D	1.000	D	1.79	L	-0.26	T	-0.524	T	0.340	T	0.614	3.168	16.60	4.67	2.423	3.700	12.954	0.213	.	0.0002	0.00199681	0.0046	0	0.0035	0	0	0.0013	0	0.0126	0.0014618	226	154602	rs71584814	0.0010	0.0010	0.0006	0.0013	0.0138	0.0009	0.0009	0.0114	0.0105	6.164e-05	0.0003	3.962e-05	5.382e-05	1.996e-05	0.0138	0.0003	0.0014	0.0111	0.0007	0.0007	0.0005	0.0009	0.0106	0.0006	0.0005	0.0083	0.0074	7.213e-05	0	0.0007	0	0	0	0.0170	0.0004	0.0014	0.0106	0.28	0.19710	T	0.018	0.60337	D	0.977	0.58535	D	0.786	0.57542	P	0.000206	0.47681	D	0.143878	0.999998	0.58761	D	2.3	0.65703	M	-0.26	0.67187	T	-2.41	0.52938	N	0.404	0.44474	-0.5236	0.67781	T	0.340	0.70575	T	10	0.0068933964	0.00157	T	.	.	.	0.213	0.50496	.	.	0.459009637647	0.45527	0.48088555628630786	0.48008	0.206603004611	0.23089	0.330310881138	0.14981	T	0.024029	0.18233	T	-0.288477	0.09790	T	-0.177759	0.56730	T	0.0231155255477237	0.01037	T	0.831917	0.49916	T	0.29835245	0.52757	0.21587262	0.46193	0.29835245	0.52756	0.21587262	0.46192	-4.133	0.25775	T	.	.	0.164	0.37121	B	.;.;.;.	.;.;.;.	3.710489	0.52968	23.3	0.99443036195137824	0.64870	0.93127	0.57397	D	AEFBHCI	0.632805	0.61328	D	0.203775369848775	0.51383	3.319881	0.249164755487107	0.52603	3.433988	0.999999999964985	0.74766	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.67	4.67	0.58089	3.888000	0.55917	4.309000	0.42963	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.914000	0.44937	0.0:0.0:1.0:0.0	12.954	0.57815	898	0.25240	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1467.98	38	chr12	6317909	.	G	T	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.137e+00;DP=908;ExcessHet=0.0000;FS=0.686;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.44;ReadPosRankSum=-6.200e-02;SOR=0.695	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1482,0,1475	20	0	1	0
chr12	6388415	6388415	G	T	exonic	LTBR	.	nonsynonymous SNV	LTBR:NM_001270987:exon7:c.G628T:p.A210S	.	.	383	1106	32	1	0	34	0.015138	.	.	725226	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.37	T	0.447	B	0.063	B	0.054	N	1.000	D	1.95	M	-2.19	D	-0.575	T	0.406	T	0.169	1.132	9.615	0.667	0.285	1.239	3.119	0.298	.	0.0044	0.00419329	0.0052	0.0012	0.0048	0.0001	0.0006	0.0055	0.0122	0.0107	0.0049999	773	154602	rs41332645	0.0059	0.0060	0.0058	0.0061	0.0105	0.0058	0.0058	0.0100	0.0097	0.0008	0.0036	0.0057	2.519e-05	0.0004	0.0087	0.0063	0.0060	0.0105	0.0040	0.0040	0.0041	0.0039	0.0083	0.0038	0.0037	0.0063	0.0055	0.0009	0.0044	0.0046	0.0046	0.0002	0.0002	0.0170	0.0062	0.0057	0.0083	0.14	0.25664	T	0.156	0.32040	T	0.447	0.36006	B	0.063	0.27082	B	0.053605	0.02051	N	2.323050	1	0.81001	D	2.31	0.66127	M	-2.2	0.86888	D	-0.45	0.14782	N	0.351	0.39254	-0.5753	0.65804	T	0.406	0.75600	T	10	0.01009208	0.00226	T	.	.	.	0.298	0.61843	.	.	0.788720867514	0.78676	0.700720663021327	0.70013	0.186489258796	0.20959	0.357159256935	0.18971	T	0.135537	0.46740	T	-0.351091	0.04659	T	-0.269133	0.47908	T	0.0104986879931563	0.00145	T	0.682032	0.29067	T	0.032337707	0.03241	0.041256744	0.04647	0.032337707	0.03241	0.041256744	0.04647	-3.886	0.22813	T	.	.	0.121	0.25000	B	.;.	.;.	2.344849	0.30055	18.32	0.96384255400607333	0.29630	0.63326	0.32055	D	AEFGBHCI	0.485854	0.52527	N	-0.571582043788752	0.19811	1.039836	-0.531999366364972	0.21286	1.150795	0.999998040825816	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.03	0.667	0.17076	1.393000	0.34106	3.628000	0.39306	-0.148000	0.12190	1.000000	0.71638	1.000000	0.68203	0.109000	0.18697	0.0938:0.3095:0.4171:0.1796	3.119	0.06002	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1199.98	44	chr12	6388415	.	G	T	1199.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.309;DP=870;ExcessHet=0.0000;FS=1.550;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.32;ReadPosRankSum=-3.700e-01;SOR=0.869	GT:AD:DP:GQ:PL	0/1:56,50:106:99:1214,0,1369	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	2/4:0,3,24,0,32:62:99:2220,2102,2167,1295,1179,1218,2261,2212,1315,2449,959,913,0,1169,1180	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	2/4:0,3,24,0,32:62:99:2220,2102,2167,1295,1179,1218,2261,2212,1315,2449,959,913,0,1169,1180	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	2/4:0,3,24,0,32:62:99:2220,2102,2167,1295,1179,1218,2261,2212,1315,2449,959,913,0,1169,1180	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	2/4:0,3,24,0,32:62:99:2220,2102,2167,1295,1179,1218,2261,2212,1315,2449,959,913,0,1169,1180	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	0/3:50,0,0,27,0,0,0:77:99:.:.:946,1096,3182,1096,3182,3182,0,2086,2086,2003,1096,3182,3182,2086,3182,1096,3182,3182,2086,3182,3182,1096,3182,3182,2086,3182,3182,3182	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	0/3:50,0,0,27,0,0,0:77:99:.:.:946,1096,3182,1096,3182,3182,0,2086,2086,2003,1096,3182,3182,2086,3182,1096,3182,3182,2086,3182,3182,1096,3182,3182,2086,3182,3182,3182	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	0/3:50,0,0,27,0,0,0:77:99:.:.:946,1096,3182,1096,3182,3182,0,2086,2086,2003,1096,3182,3182,2086,3182,1096,3182,3182,2086,3182,3182,1096,3182,3182,2086,3182,3182,3182	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	0/3:50,0,0,27,0,0,0:77:99:.:.:946,1096,3182,1096,3182,3182,0,2086,2086,2003,1096,3182,3182,2086,3182,1096,3182,3182,2086,3182,3182,1096,3182,3182,2086,3182,3182,3182	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	0/3:50,0,0,27,0,0,0:77:99:.:.:946,1096,3182,1096,3182,3182,0,2086,2086,2003,1096,3182,3182,2086,3182,1096,3182,3182,2086,3182,3182,1096,3182,3182,2086,3182,3182,3182	1	0	2	0
chr12	9832369	9832369	G	A	exonic	KLRF1	.	nonsynonymous SNV	KLRF1:NM_001291822:exon2:c.G139A:p.V47M	.	.	446	1012	61	3	0	67	0.0320421	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.113	B	0.033	B	0.722	N	1.000	N	0.55	N	4.79	T	-1.063	T	0.059	T	0.133	-2.679	0	-2.27	-0.970	-0.703	5.229	0.025	.	0.0028	0.00738818	0.0077	0.0007	0.0068	0	0.0005	0.0049	0.0078	0.0301	0.0068175	1054	154602	rs146460124	0.0046	0.0047	0.0036	0.0056	0.0321	0.0045	0.0045	0.0311	0.0307	0.0007	0.0060	0.0077	7.582e-05	0.0003	0.0205	0.0027	0.0055	0.0321	0.0039	0.0039	0.0036	0.0042	0.0327	0.0036	0.0035	0.0285	0.0270	0.0009	0.0011	0.0060	0.0081	0.0002	0.0004	0.0102	0.0038	0.0057	0.0327	0.175	0.25768	T	0.191	0.49120	T	0.113	0.26349	B	0.033	0.22329	B	0.722462	0.06322	N	1.214770	1	0.08975	N	0.805	0.20218	L	0.4	0.57261	T	-1.72	0.40850	N	0.161	0.22228	-1.0634	0.10926	T	0.059	0.24612	T	9	0.0059431195	0.00133	T	.	.	.	0.025	0.05312	.	.	0.171388866994	0.16791	0.2775677312493388	0.27669	.	.	0.29831263423	0.10151	T	0.02985	0.21296	T	-0.585658	0.00178	T	-0.591036	0.13576	T	0.000816321794284554	0.00008	T	0.69743	0.30707	T	.	.	.	.	.	.	.	.	-4.949	0.36281	T	.	.	0.098	0.20038	B	.;.;.;.;.	.;.;.;.;.	0.062193	0.04727	1.359	0.08633522959055194	0.00071	0.00566	0.02572	N	AEFBI	0.044400	0.07140	N	-1.68846938339769	0.00883	0.03823578	-1.7559330760471	0.00911	0.04075757	6.07512311615335E-6	0.01202	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.04	-2.27	0.06458	-0.693000	0.05222	-0.056000	0.12484	-1.591000	0.00906	0.003000	0.16062	0.005000	0.19230	0.025000	0.12405	0.296:0.2805:0.4235:0.0	5.229	0.14730	900	0.24599	.;.;.;.;.	.	.	.	.	.	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	2074.68	34	chr12	9832369	.	G	A	2074.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.803;DP=806;ExcessHet=0.3300;FS=0.538;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.572;SOR=0.718	GT:AD:DP:GQ:PL	0/1:22,21:43:99:507,0,501	18	0	3	0
chr12	10450556	10450556	G	A	exonic	KLRC1	.	nonsynonymous SNV	KLRC1:NM_002259:exon3:c.C211T:p.L71F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.188	B	0.299	B	0.007	N	0.932	N	1.935	M	2.2	T	-1.024	T	0.058	T	0.331	0.334	5.809	0.681	0.008	-0.001	6.253	0.055	0.00141508426883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	6.841e-07	0	1.378e-06	9.022e-07	0	0	.	.	0	0	0	0	0	0	9.022e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29959	T	0.159	0.31833	T	0.023	0.29318	B	0.038	0.41006	B	0.006588	0.31929	N	0.147635	0.932098	0.27030	N	2.655	0.77738	M	2.2	0.18570	T	-2.6	0.55983	D	0.09	0.14338	-1.0241	0.22377	T	0.058	0.24428	T	10	0.07306573	0.10990	T	0.001415	0.02088	T	0.055	0.15663	0.435	0.48664	0.0762999501168	0.06990	0.18355798802211948	0.18274	0.0558337906702	0.06170	0.314549088478	0.12594	T	0.420332	0.77207	T	-0.219078	0.18118	T	-0.552467	0.17089	T	0.299999828032544	0.25004	T	0.623338	0.24114	T	0.07667325	0.17355	0.076360516	0.16904	0.07667325	0.17355	0.076360516	0.16903	-6.592	0.51138	T	.	.	0.099	0.16582	B	.;.;.;.;.	.;.;.;.;.	0.557630	0.09259	6.044	0.95869813873891929	0.28044	0.05248	0.11083	N	AEFDGI	0.093960	0.19004	N	-1.00571460951074	0.08485	0.3979927	-1.04643631548098	0.08781	0.4334551	5.26026630357321E-5	0.04171	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.7	0.681	0.17152	-0.101000	0.10943	-1.117000	0.06280	-1.508000	0.01019	0.012000	0.18695	0.000000	0.08366	0.003000	0.05239	0.1086:0.3592:0.5322:0.0	6.253	0.20064	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	0.1111	188.24	45	chr12	10450556	.	G	A	188.24	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.015e+00;DP=1153;ExcessHet=0.6776;FS=365.008;InbreedingCoeff=-0.1621;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.68;ReadPosRankSum=1.14;SOR=9.364	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:38,15:62:42:.:.:42,0,632	14	0	4	3
chr12	10882330	10882330	G	A	exonic	PRH1	.	stopgain	PRH1:NM_001291315:exon5:c.C508T:p.Q170X	.	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	.	.	.	.	.	.	0.015	A	.	.	.	.	.	.	.	.	.	0.656	7.516	0.497	0.512	0.513	.	.	.	.	.	5.183e-05	0	8.74e-05	0	0	7.789e-05	0	0	.	.	.	rs775565727	4.667e-05	4.788e-05	3.687e-05	5.659e-05	0.0012	3.74e-05	3.423e-05	0.0005	0.0004	0	0.0002	0	0	0	0.0012	3.694e-05	0.0002	0	7.259e-05	7.22e-05	3.868e-05	0.0001	0.0001	3.988e-05	3.139e-05	5.864e-05	4.255e-05	4.825e-05	0	0	0.0003	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0153553	0.24782	A	.	.	.	.	.	.	.	.	.	0.3	0.33904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0163128	0.49378	T	-0.00616287	0.69934	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant	.;.;.;High	5.807689	0.93643	33	0.86524405614787858	0.16594	0.01631	0.05259	N	AEFGBI	0.044472	0.07159	N	-0.0752798536609552	0.38478	2.254306	-0.526121783984726	0.21445	1.160137	0.923301837145916	0.26738	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	0.497	0.497	0.16109	0.861000	0.27540	-2.661000	0.03495	0.322000	0.19397	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	869	0.31655	.;.;.;.	.	.	.	.	.	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	781.98	33	chr12	10882330	.	G	A	781.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.087e+00;DP=800;ExcessHet=0.0000;FS=1.870;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.70;MQRankSum=0.117;QD=9.65;ReadPosRankSum=-6.250e-01;SOR=0.483	GT:AD:DP:GQ:PL	0/1:46,35:81:99:796,0,1333	20	0	1	0
chr12	10930967	10930967	C	T	exonic	PRH2	.	stopgain	PRH2:NM_001110213:exon3:c.C406T:p.Q136X,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	.	.	.	.	0.293	U	0.009	A	.	.	.	.	.	.	.	.	.	0.509	6.760	-0.599	-0.180	-0.276	4.354	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1489634770	6.906e-07	4.788e-06	1.372e-06	0	9.049e-07	0	0	.	.	0	0	0	0	0	0	9.049e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.292719	0.03905	U	2.163940	0.00919829	0.24122	A	.	.	.	.	.	.	.	.	.	0.103	0.08646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149278	0.69200	D	-0.0233496	0.68808	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;Tolerant	High;High	4.912375	0.80831	27.4	0.86975139509160304	0.16901	0.00435	0.02127	N	AEFGI	0.029008	0.02658	N	-0.168483475942341	0.34452	1.966583	-0.636579945017447	0.18556	0.9917887	0.254764805226752	0.18721	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	0.678	-0.599	0.11062	1.087000	0.30476	-0.412000	0.09340	0.396000	0.20521	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0:0.5694:0.4305:0.0	4.354	0.10608	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	0.02381	105.98	50	chr12	10930967	.	C	T	105.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.807e+00;DP=1097;ExcessHet=0.0000;FS=9.987;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=38.71;MQRankSum=-3.560e-01;QD=1.47;ReadPosRankSum=-1.695e+00;SOR=2.894	GT:AD:DP:GQ:PL	0/1:63,9:72:99:120,0,2434	20	0	1	0
chr12	11092088	11092088	G	0	exonic	TAS2R43	.	.	.	.	.	456	371	599	79	17	774	0.505003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4762	5986.12	144	chr12	11092088	.	G	C,*	5986.12	.	AC=17,3;AF=0.405,0.071;AN=42;BaseQRankSum=-1.327e+00;DP=2170;ExcessHet=8.0185;FS=6.574;InbreedingCoeff=-0.3364;MLEAC=17,3;MLEAF=0.405,0.071;MQ=56.75;MQRankSum=-8.550e+00;QD=3.41;ReadPosRankSum=1.78;SOR=1.189	GT:AD:DP:GQ:PL	0/1:55,16,0:71:99:419,0,1855,584,1903,2488	4	3	11	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	1|1:3,191,0:194:99:1|1:11353413_G_A:7301,489,0,7310,574,7394:11353413	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	1|1:0,95,0:95:99:1|1:11353413_G_A:4188,286,0,4188,286,4188:11353413	0	8	4	7
chr12	11353720	11353720	-	TGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon5:c.1368_1369insAACCTCAGGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACA:p.D457delinsNLRVPHLQESHKDHPHKETSPKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATD,	.	.	540	935	7	29	11	76	0.0335917	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0088	0.0081	0.0089	0.0159	0.0083	0.0083	0.0146	0.0141	0.0033	0.0083	0.0191	0.0159	0.0281	0.0146	0.0072	0.0123	0.0121	0.0005	0.0008	0.0005	0.0005	0.0004	0.0003	0.0002	0.0001	8.372e-05	0	0	0	0.0033	0	0.0067	0	0.0004	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	26110.08	283	chr12	11353720	.	C	CTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTTGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCCTGAGGTT	26110.08	.	AC=8;AF=0.444;AN=18;BaseQRankSum=2.31;DP=5960;ExcessHet=0.0002;FS=4.944;InbreedingCoeff=0.1416;MLEAC=12;MLEAF=0.667;MQ=48.22;MQRankSum=-2.223e+00;QD=32.60;ReadPosRankSum=-2.244e+00;SOR=0.850	GT:AD:DP:GQ:PL	1/1:176,137:313:13:4852,13,0	4	3	2	12
chr12	12477735	12477735	C	0	exonic	DUSP16	.	.	.	.	.	435	893	140	11	43	205	0.0831622	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	734.67	33	chr12	12477735	.	C	T,*	734.67	.	AC=1,4;AF=0.025,0.100;AN=40;BaseQRankSum=3.48;DP=1239;ExcessHet=1.1607;FS=0.000;InbreedingCoeff=-0.1507;MLEAC=1,4;MLEAF=0.025,0.100;MQ=60.00;MQRankSum=0.00;QD=1.62;ReadPosRankSum=-1.694e+00;SOR=0.736	GT:AD:DP:GQ:PL	0/2:48,0,42:90:99:1592,1736,3752,0,2016,1887	15	0	1	1
chr12	13061668	13061668	T	C	exonic	FAM234B	.	nonsynonymous SNV	FAM234B:NM_020853:exon4:c.T626C:p.I209T,	.	.	429	1092	1	0	0	1	0.000457666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.328	B	0.154	B	0.037	N	0.715	N	1.04	L	0.82	T	-0.851	T	0.116	T	0.435	3.193	16.69	5.58	2.119	5.500	15.765	0.169	0.0151561401854	7.7e-05	.	4.955e-05	0	0	0	0	9.011e-05	0	0	4.53e-05	7	154602	rs375243163	2.668e-05	2.668e-05	3.131e-05	2.2e-05	0.0012	1.997e-05	1.754e-05	0.0006	0.0004	2.987e-05	2.236e-05	0	0	0	0.0012	1.889e-05	9.936e-05	3.478e-05	5.914e-05	5.91e-05	6.423e-05	5.38e-05	7.348e-05	3.077e-05	2.21e-05	2.846e-05	1.858e-05	0	0	0	0	0	0	0.0032	7.348e-05	0.0014	0	0.008	0.58626	D	0.008	0.67890	D	0.328	0.33195	B	0.154	0.34351	B	0.036710	0.24488	N	0.471906	0.714731	0.29980	N	.	.	.	0.82	0.48142	T	-1.98	0.45769	N	0.599	0.61764	-0.8509	0.51905	T	0.116	0.40942	T	10	0.36783433	0.53242	T	0.015156	0.35730	T	0.169	0.43123	.	.	0.345405024496	0.34151	0.8896466829034507	0.88934	0.170968623784	0.19261	0.422103196383	0.28126	T	0.035819	0.23866	T	-0.197878	0.21111	T	-0.341719	0.40149	T	0.160378777857773	0.17900	T	.	.	.	0.13663888	0.31667	0.1443496	0.34273	0.13663888	0.31666	0.1443496	0.34272	-6.732	0.52051	T	.	.	0.494	0.64293	A	.	.	3.824273	0.55237	23.6	0.99509033786365042	0.68499	0.87286	0.46779	D	ALL	0.434716	0.49565	N	0.144372939363275	0.48546	3.065543	0.293421248153656	0.55153	3.678805	0.999999999999936	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.58	5.58	0.84361	5.500000	0.66660	7.902000	0.73606	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.994000	0.71098	0.0:0.0:0.0:1.0	15.765	0.77890	835	0.38313	.	.	.	.	.	.	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	2553.98	37	chr12	13061668	.	T	C	2553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.172;DP=1668;ExcessHet=0.0000;FS=3.916;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.88;ReadPosRankSum=-1.237e+00;SOR=0.477	GT:AD:DP:GQ:PL	0/1:113,102:215:99:2568,0,2884	20	0	1	0
chr12	14696438	14696438	A	G	exonic	GUCY2C	.	nonsynonymous SNV	GUCY2C:NM_004963:exon1:c.T11C:p.L4S,	Diarrhea 6, Autosomal dominant;Meconium ileus, Autosomal recessive	.	5	1513	4	0	0	4	0.00132013	.	.	3056790	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.08	T	0.001	B	0.001	B	0.299	N	1.000	N	0	N	-1.39	T	-0.832	T	0.258	T	0.134	-1.493	0.017	-3.2	-0.441	-0.130	10.837	0.180	0.0469244086645	.	0.000199681	0.0001	0	0	0	0	0	0	0.0008	9.06e-05	14	154602	rs534813812	4.311e-05	4.309e-05	2.996e-05	5.64e-05	0.0005	3.444e-05	3.13e-05	0.0003	0.0003	2.988e-05	0	0	0	0	0	1.979e-05	1.657e-05	0.0005	2.628e-05	2.625e-05	1.286e-05	4.032e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0	0	0	0	0	0.0008	0.721	0.03914	T	0.781	0.04316	T	0.001	0.07471	B	0.001	0.04355	B	0.299248	0.03944	N	1.384010	1	0.08975	N	0.345	0.11182	N	-1.39	0.80387	T	-0.15	0.09297	N	0.174	0.18649	-0.8324	0.53146	T	0.258	0.62845	T	10	0.023318917	0.00606	T	0.046924	0.62685	D	0.180	0.45073	0.509	0.60540	0.499727662827	0.49609	0.385284473629612	0.38443	0.259871599414	0.28552	0.228473961353	0.01857	T	0.128441	0.45610	T	-0.448976	0.01145	T	-0.521905	0.20101	T	0.0176161910983487	0.00494	T	0.217778	0.02747	T	0.01945925	0.00477	0.05354279	0.09040	0.01945925	0.00477	0.05354279	0.09039	-4.653	0.32830	T	.	.	0.057	0.00604	B	.	.	0.509272	0.08783	5.558	0.46845386020612428	0.03784	0.00882	0.03481	N	AEFDBCI	0.041082	0.06198	N	-1.44503669649189	0.02256	0.09942403	-1.46085580922167	0.02673	0.1233898	0.411029863945571	0.20212	0.487112	0.14033	0	0.573888	0.26702	0	0.465395	0.07113	1	0.564101	0.26826	0	.	.	5.27	-3.2	0.04838	-0.084000	0.11233	1.607000	0.27615	-0.576000	0.04747	0.000000	0.06391	0.002000	0.18203	0.041000	0.14368	0.6853:0.0:0.3147:0.0	10.837	0.45901	709	0.56835	.	.	.	.	.	.	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	4854.98	38	chr12	14696438	.	A	G	4854.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.840e+00;DP=1158;ExcessHet=0.0000;FS=3.245;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.84;ReadPosRankSum=0.363;SOR=0.491	GT:AD:DP:GQ:PL	0/1:243,205:448:99:4869,0,6656	20	0	1	0
chr12	21318899	21318899	C	T	exonic	SLCO1A2	.	nonsynonymous SNV	SLCO1A2:NM_021094:exon2:c.G85A:p.A29T	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	1.0	D	0.999	D	0.000	D	1.000	D	2.41	M	1.0	T	-0.390	T	0.370	T	0.605	4.456	23.8	5.68	2.683	3.474	12.736	0.243	0.0281012920725	.	0.000199681	8.386e-06	0.0001	0	0	0	0	0	0	1.29e-05	2	154602	rs201481055	3.471e-06	5.472e-06	2.76e-06	4.19e-06	2.714e-06	1.02e-06	7.4e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.714e-06	3.357e-05	0	6.568e-06	6.563e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.013	0.91255	D	0.027	0.92824	D	0.774	0.44062	P	0.627	0.51631	P	0.000073	0.52346	D	0.169065	0.97507	0.81001	D	2.57	0.75187	M	0.18	0.60361	T	-1.94	0.45042	N	0.603	0.62103	-0.3902	0.72336	T	0.370	0.72970	T	10	0.3429328	0.51315	T	0.028101	0.50823	D	0.243	0.54921	.	.	0.645334628493	0.64240	0.40153284833769703	0.40069	0.269669760941	0.29493	0.542712688446	0.44829	T	0.077941	0.35773	T	0.0479483	0.58079	T	-0.168902	0.57544	T	0.977206587791443	0.71734	D	0.769523	0.40183	T	0.31261924	0.54011	0.29996106	0.56029	0.31261924	0.54011	0.29996106	0.56028	-6.277	0.48540	T	.	.	0.189	0.48146	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.463512	0.69484	25.4	0.99900826329957404	0.97275	0.91181	0.53019	D	AEFBI	0.466587	0.51417	N	0.667050026879861	0.77474	6.682026	0.664494812339203	0.79694	7.136863	0.0160009544596286	0.12779	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.68	5.68	0.88021	2.924000	0.48572	4.829000	0.45183	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.9243:0.0:0.0757	12.736	0.56595	900	0.24599	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain;.;Major facilitator superfamily domain;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1147.98	36	chr12	21318899	.	C	T	1147.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.311e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.00;ReadPosRankSum=0.089;SOR=0.662	GT:AD:DP:GQ:PL	0/1:37,45:82:99:1162,0,954	20	0	1	0
chr12	29311098	29311098	C	T	exonic	FAR2	.	nonsynonymous SNV	FAR2:NM_001271784:exon6:c.C548T:p.T183I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.86	T	0.009	B	0.012	B	0.001	N	0.994	N	-1.59	N	1.98	T	-0.941	T	0.011	T	0.198	0.312	5.691	1.56	0.597	1.494	6.917	0.067	0.00265185455124	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.03502	T	0.701	0.06147	T	0.009	0.15093	B	0.012	0.16012	B	0.001156	0.40056	N	0.212030	0.99353	0.23694	N	-0.695	0.01866	N	1.98	0.21865	T	2.73	0.00184	N	0.205	0.22742	-0.9411	0.42442	T	0.011	0.03996	T	10	0.03974697	0.02489	T	0.002652	0.05406	T	0.067	0.19503	0.562	0.68229	0.168254554758	0.16434	0.6445084295669288	0.64385	0.478096384883	0.46899	0.323771834373	0.13992	T	0.034525	0.23358	T	-0.235002	0.15991	T	-0.57534	0.14963	T	0.106398269534111	0.13047	T	0.80472	0.45238	T	0.049099836	0.08663	0.04227831	0.05000	0.049099836	0.08663	0.04227831	0.05000	-1.041	0.01437	T	.	.	0.083	0.16054	B	.;.;.	.;.;.	1.064764	0.14465	11.04	0.84620371807550532	0.15398	0.42766	0.26950	N	AEFBI	0.118235	0.23128	N	-0.899118992945602	0.10863	0.5212559	-0.699685928821288	0.16968	0.9001243	1.62962658824067E-4	0.05721	0.719381	0.83141	0	0.670034	0.63936	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	4.38	1.56	0.22423	1.432000	0.34545	0.226000	0.16132	0.580000	0.29708	0.883000	0.31049	0.003000	0.18671	0.966000	0.53164	0.0:0.7435:0.0:0.2565	6.917	0.23547	951	0.11083	Male sterility, NAD-binding;Male sterility, NAD-binding;.	.	.	.	.	.	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	155.75	35	chr12	29311098	.	C	T	155.75	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-4.820e+00;DP=1615;ExcessHet=0.3300;FS=89.849;InbreedingCoeff=-0.0786;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.920;SOR=9.926	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,12:84:36:0|1:29311098_C_T:36,0,2571:29311098	18	0	3	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	0/1:30,17,0:47:60:.:.:60,0,364,141,407,549	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	0/1:30,17,0:47:60:.:.:60,0,364,141,407,549	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	0/2:529,0,514:1043:99:.:.:19037,20626,40356,0,19730,18086	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	1/1:0,912,0:912:99:30549,2739,0,32108,2820,36537	1	12	6	0
chr12	40483068	40483068	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.619	356058.34	934	chr12	40483068	.	G	A,*	356058.34	.	AC=26,1;AF=0.619,0.024;AN=42;BaseQRankSum=2.01;DP=18690;ExcessHet=0.1361;FS=0.637;InbreedingCoeff=0.2741;MLEAC=26,1;MLEAF=0.619,0.024;MQ=59.71;MQRankSum=0.00;QD=24.52;ReadPosRankSum=0.509;SOR=0.620	GT:AD:DP:GQ:PL	0/1:596,341,0:937:99:8988,0,17156,11401,19282,35190	4	9	7	0
chr12	40483176	40483178	AAC	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	543	923	56	0	0	56	0.0294427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1415489964	0	4.108e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0006	0.0049	0.0006	0.0007	0.0014	0.0005	0.0005	0.0009	0.0008	0.0005	0	0.0014	0.0006	0	0.0003	0	0.0007	0.0010	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	1334.64	787	chr12	40483175	.	GAAC	G	1334.64	.	AC=3;AF=0.071;AN=42;BaseQRankSum=7.54;DP=15446;ExcessHet=0.3300;FS=5.275;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=59.68;MQRankSum=-1.402e+01;QD=0.58;ReadPosRankSum=-8.166e+00;SOR=1.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:667,55:722:99:0|1:40483128_A_G:302,0,27842:40483128	18	0	3	0
chr12	40485199	40485204	AGGACT	-	exonic	MUC19	.	unknown	UNKNOWN,	.	.	546	975	1	0	0	1	0.000512558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006531	17	26028	rs1268064007	8.458e-06	0.0018	1.123e-05	5.232e-06	0.0011	3.52e-06	2.26e-06	1.24e-06	8.3e-07	6.361e-05	0.0011	0	0	0	0	5.284e-06	3.692e-05	0	4.116e-05	0.0031	2.672e-05	5.642e-05	0.0002	1.778e-05	1.17e-05	5.866e-05	3.095e-05	2.49e-05	0	0.0002	0	0	9.992e-05	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	741.07	713	chr12	40485198	.	AAGGACT	A	741.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.83;DP=15912;ExcessHet=0.1072;FS=28.910;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.56;MQRankSum=-3.034e+01;QD=0.43;ReadPosRankSum=-6.582e+00;SOR=4.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:719,66:785:99:0|1:40485198_AAGGACT_A:590,0,29870:40485198	19	0	2	0
chr12	40485210	40485210	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1237855094	3.377e-05	0.0021	3.268e-05	3.503e-05	0.0124	2.317e-05	1.958e-05	0.0065	0.0048	6.784e-05	0.0124	0	0.0003	0	0	1.181e-05	0.0002	0	0.0003	0.0043	0.0002	0.0003	0.0021	0.0002	0.0002	0.0015	0.0013	0.0001	0	0.0021	0	0	0.0001	0	5.051e-05	0.0006	0.0005	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3792.02	713	chr12	40485210	.	A	G,AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	3792.02	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=6.72;DP=16027;ExcessHet=0.6776;FS=25.309;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=57.97;MQRankSum=-2.746e+01;QD=1.12;ReadPosRankSum=-6.528e+00;SOR=3.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:672,82,0:754:99:0|1:40485198_AAGGACT_A:1172,0,27735,3194,27990,31183:40485198	15	0	3	2
chr12	40485210	40485210	-	GTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	548	972	1	0	1	2	0.000514139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	3792.02	713	chr12	40485210	.	A	G,AGTGACAGGGACAACTGGACTGTCGGCTGAAGTGACAGGGACAACTGGG	3792.02	.	AC=3,1;AF=0.079,0.026;AN=38;BaseQRankSum=6.72;DP=16027;ExcessHet=0.6776;FS=25.309;InbreedingCoeff=-0.1351;MLEAC=3,1;MLEAF=0.079,0.026;MQ=57.97;MQRankSum=-2.746e+01;QD=1.12;ReadPosRankSum=-6.528e+00;SOR=3.183	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:672,82,0:754:99:0|1:40485198_AAGGACT_A:1172,0,27735,3194,27990,31183:40485198	15	0	3	2
chr12	40486087	40486087	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	558	957	7	0	0	7	0.00364394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs1438207721	1.205e-06	0.0002	0	2.609e-06	1.316e-06	0	0	.	.	0	0	0	0	0	0	1.316e-06	0	0	0.0067	0.0083	0.0057	0.0078	0.0528	0.0064	0.0062	0.0496	0.0483	0.0020	0	0.0528	0	0.0110	0.0066	0	0.0006	0.0065	0.0040	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	23855.3	510	chr12	40486087	.	A	G	23855.3	.	AC=4;AF=0.100;AN=40;BaseQRankSum=-1.404e+00;DP=16199;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1200;MLEAC=4;MLEAF=0.100;MQ=59.05;MQRankSum=-1.733e+01;QD=5.67;ReadPosRankSum=-4.207e+00;SOR=0.703	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:760,247:1009:99:0|1:40486086_A_G:8827,0,31104:40486086	16	0	4	1
chr12	40486114	40486114	-	GGAGTGAC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.781e-06	5.42e-05	0	1.387e-05	6.733e-05	0	0	.	.	0	0	6.733e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	3318.29	510	chr12	40486114	.	T	TGGAGTGAC	3318.29	.	AC=1;AF=0.025;AN=40;BaseQRankSum=5.23;DP=17014;ExcessHet=0.0000;FS=1.798;InbreedingCoeff=-0.0370;MLEAC=1;MLEAF=0.025;MQ=57.58;MQRankSum=-2.390e+01;QD=2.55;ReadPosRankSum=-1.234e+01;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1139,161:1300:99:0|1:40486114_T_TGGAGTGAC:3332,0,47342:40486114	19	0	1	1
chr12	40486117	40486117	-	GACAACTGGACTGTCGGCTGAA	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.375e-05	0.0002	0	4.863e-05	0.0003	0	0	.	.	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02778	5595.05	510	chr12	40486117	.	G	GGACAACTGGACTGTCGGCTGAA	5595.05	.	AC=1;AF=0.028;AN=36;BaseQRankSum=1.78;DP=17131;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0633;MLEAC=1;MLEAF=0.028;MQ=57.25;MQRankSum=-2.426e+01;QD=4.14;ReadPosRankSum=-1.042e+01;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1136,215:1351:99:0|1:40486114_T_TGGAGTGAC:5608,0,47053:40486114	17	0	1	3
chr12	40486134	40486134	T	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	553	952	2	1	14	18	0.00209644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002651	69	26028	rs77714081	2.695e-05	9.478e-05	3.226e-05	2.079e-05	0.0010	1.563e-05	1.222e-05	1.529e-05	1.278e-05	0	0	0	0	0	0.0010	2.741e-05	0	0	0.0012	0.0071	0.0013	0.0010	0.0076	0.0009	0.0008	0.0026	0.0017	0.0007	0	0.0042	0	0.0022	0.0012	0	0.0007	0	0.0076	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.02941	6508.53	807	chr12	40486134	.	T	G	6508.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.84;DP=17640;ExcessHet=0.0000;FS=1.510;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=56.84;MQRankSum=-2.468e+01;QD=4.51;ReadPosRankSum=3.74;SOR=0.840	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1202,242:1444:99:0|1:40486114_T_TGGAGTGAC:6521,0,49514:40486114	16	0	1	4
chr12	40486135	40486135	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	552	964	2	1	3	7	0.00207039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00146	38	26028	rs78154920	2.497e-05	5.348e-05	2.99e-05	1.925e-05	0.0009	1.448e-05	1.133e-05	1.416e-05	1.191e-05	0	0	0	0	0	0.0009	2.539e-05	0	0	0.0005	0.0012	0.0006	0.0004	0.0031	0.0003	0.0003	0.0016	0.0012	0.0002	0	0.0031	0	0.0009	0.0010	0	0.0003	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	0.02941	6518.53	811	chr12	40486135	.	A	G	6518.53	.	AC=1;AF=0.029;AN=34;BaseQRankSum=3.99;DP=17642;ExcessHet=0.0000;FS=1.510;InbreedingCoeff=-0.0769;MLEAC=1;MLEAF=0.029;MQ=56.82;MQRankSum=-2.461e+01;QD=4.51;ReadPosRankSum=4.16;SOR=0.836	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1202,242:1444:99:0|1:40486114_T_TGGAGTGAC:6531,0,49273:40486114	16	0	1	4
chr12	40486500	40486500	C	A	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	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1026,0,754:1780:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:28752,31841,74920,0,43079,40602:40486484	17	0	1	0
chr12	40486500	40486500	C	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1717.24	813	chr12	40486500	.	C	A,*	1717.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=0.871;DP=21584;ExcessHet=0.6776;FS=10.912;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=56.54;MQRankSum=4.74;QD=0.36;ReadPosRankSum=-4.885e+00;SOR=1.121	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1026,0,754:1780:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:28752,31841,74920,0,43079,40602:40486484	17	0	1	0
chr12	40486502	40486502	G	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.394e-06	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	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1026,0,754:1780:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:28752,31841,74920,0,43079,40602:40486484	17	0	1	0
chr12	40486502	40486502	G	0	exonic	MUC19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	4774.24	813	chr12	40486502	.	G	T,*	4774.24	.	AC=1,3;AF=0.024,0.071;AN=42;BaseQRankSum=1.20;DP=21795;ExcessHet=0.6776;FS=6.160;InbreedingCoeff=-0.1053;MLEAC=1,3;MLEAF=0.024,0.071;MQ=59.61;MQRankSum=2.70;QD=0.89;ReadPosRankSum=-1.014e+01;SOR=1.086	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:1026,0,754:1780:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:28752,31841,74920,0,43079,40602:40486484	17	0	1	0
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|3:1026,0,0,754:1780:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:28752,31841,74920,31841,74920,74920,0,43079,43079,40602:40486484	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|3:1026,0,0,754:1780:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:28752,31841,74920,31841,74920,74920,0,43079,43079,40602:40486484	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|2:1026,0,754:1780:99:0|1:40486484_ACAACTGGACCATCAGCTGAAGAGACAGGGG_A:28752,31841,74920,0,43079,40602:40486484	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	0/2:993,4,754:1751:99:.:.:28504,31398,60987,0,31693,40682	1	0	7	11
chr12	40487424	40487424	-	TGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1394452281	0	6.859e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	4.247e-05	0.0036	3.291e-05	5.266e-05	0.0003	1.641e-05	1.002e-05	6.32e-06	2.36e-06	2.999e-05	0	0	0	0.0003	0.0001	0	3.809e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1692,0,0,5:1697:99:.:.:8549,0,70060,3510,70259,73710,9104,70490,70743,79668	4	0	6	1
chr12	40487424	40487424	-	CAGGTGTAGTGACAGGGACAACTGGCCC	exonic	MUC19	.	unknown	UNKNOWN,	.	.	531	647	136	0	208	344	0.0951049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.211e-06	9.603e-06	2.25e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0003	0.0073	0.0003	0.0004	0.0005	0.0003	0.0002	0.0003	0.0002	0.0002	0	0.0005	0	0.0003	0.0005	0	0.0004	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	50116.39	790	chr12	40487424	.	T	TTGG,TCAGGTGTAGTGACAGGGACAACTGGCCC,C	50116.39	.	AC=6,9,1;AF=0.150,0.225,0.025;AN=40;BaseQRankSum=0.400;DP=24038;ExcessHet=20.9642;FS=1.658;InbreedingCoeff=-0.6518;MLEAC=6,9,1;MLEAF=0.150,0.225,0.025;MQ=57.01;MQRankSum=-2.483e+01;QD=4.00;ReadPosRankSum=2.51;SOR=1.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1692,0,0,5:1697:99:.:.:8549,0,70060,3510,70259,73710,9104,70490,70743,79668	4	0	6	1
chr12	40487443	40487443	-	CCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	exonic	MUC19	.	unknown	UNKNOWN,	.	.	536	681	142	0	163	305	0.0944149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.209e-06	8.913e-06	2.247e-06	0	0.0010	0	0	.	.	0	0.0010	0	0	0	0	0	0	0	0.0009	0.0080	0.0007	0.0011	0.0013	0.0007	0.0007	0.0007	0.0007	0.0006	0	0.0013	0	0.0009	0.0016	0	0.0010	0.0013	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	47580.64	785	chr12	40487443	.	A	G,ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47580.64	.	AC=6,9;AF=0.167,0.250;AN=36;BaseQRankSum=-4.103e+00;DP=24007;ExcessHet=17.4423;FS=3.030;InbreedingCoeff=-0.6471;MLEAC=7,10;MLEAF=0.194,0.278;MQ=56.96;MQRankSum=-2.803e+01;QD=3.55;ReadPosRankSum=-2.836e+00;SOR=1.131	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1636,86,0:1722:99:.:.:7613,0,66757,3655,67126,70810	3	0	6	3
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	0/1:421,398,0,0:819:99:.:.:10362,0,11308,12396,13304,29669,12396,13304,29669,29669	3	6	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|1:475,361,0:836:99:0|1:40489564_G_A:12793,0,18121,14222,19207,33429:40489564	13	0	6	1
chr12	40489992	40489992	G	A	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs573209248	1.445e-05	1.233e-05	4.473e-06	2.607e-05	0.0003	7.7e-06	6.08e-06	0.0001	7.725e-05	6.344e-05	0	0	0	0	0	0	0.0002	0.0003	3.326e-05	6.6e-05	3.902e-05	2.723e-05	0.0006	1.273e-05	8.07e-06	0.0002	8.601e-05	0	0	0	0	0.0006	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	14202.98	777	chr12	40489992	.	G	A	14202.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.60;DP=17389;ExcessHet=0.0000;FS=0.518;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.18;MQRankSum=-2.470e+00;QD=18.05;ReadPosRankSum=-8.480e-01;SOR=0.654	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:414,373:787:99:0|1:40489943_C_A:14217,0,15938:40489943	20	0	1	0
chr12	40489998	40489998	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000199681	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs558958381	1.685e-05	1.781e-05	8.945e-06	2.606e-05	0.0006	9.78e-06	7.65e-06	0.0002	0.0001	0	0	0	0.0006	0	0	0	0.0002	0.0004	3.298e-05	6.574e-05	3.871e-05	2.698e-05	0.0006	1.264e-05	8.01e-06	0.0002	8.511e-05	0	0	0	0	0.0006	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	14144.98	777	chr12	40489998	.	C	T	14144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.867;DP=17398;ExcessHet=0.0000;FS=0.522;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=54.56;MQRankSum=-2.176e+00;QD=17.91;ReadPosRankSum=-8.360e-01;SOR=0.621	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:418,372:790:99:0|1:40489943_C_A:14159,0,16075:40489943	20	0	1	0
chr12	40490286	40490286	C	T	exonic	MUC19	.	unknown	UNKNOWN,	.	.	595	902	19	0	6	25	0.0104224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186244381	1.359e-06	0.0003	2.527e-06	0	6.872e-05	0	0	.	.	6.872e-05	0	0	0	0	0	0	0	0	0.0003	0.0084	0.0002	0.0003	0.0018	0.0002	0.0002	0.0011	0.0009	0.0001	0.0016	0.0018	0	0.0009	0.0001	0	4.372e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.075	666.72	777	chr12	40490286	.	C	T	666.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-5.846e+00;DP=17211;ExcessHet=0.3300;FS=3.772;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=52.62;MQRankSum=-1.049e+01;QD=0.38;ReadPosRankSum=-1.430e-01;SOR=1.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:738,52:790:78:0|1:40490286_C_T:78,0,30627:40490286	17	0	3	1
chr12	40490287	40490287	A	G	exonic	MUC19	.	unknown	UNKNOWN,	.	.	589	899	19	0	15	34	0.0104568	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314271449	1.355e-06	0.0003	2.518e-06	0	6.852e-05	0	0	.	.	6.852e-05	0	0	0	0	0	0	0	0	0.0002	0.0076	0.0002	0.0003	0.0014	0.0002	0.0001	0.0009	0.0007	9.404e-05	0.0015	0.0014	0	0.0006	0.0001	0	5.854e-05	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.075	669.72	777	chr12	40490287	.	A	G	669.72	.	AC=3;AF=0.075;AN=40;BaseQRankSum=-4.922e+00;DP=17206;ExcessHet=0.3300;FS=1.632;InbreedingCoeff=-0.0909;MLEAC=3;MLEAF=0.075;MQ=52.61;MQRankSum=-6.204e+00;QD=0.38;ReadPosRankSum=-2.000e-01;SOR=0.870	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:737,52:791:81:0|1:40490286_C_T:81,0,30617:40490286	17	0	3	1
chr12	47670108	47670108	G	T	exonic	RPAP3	.	nonsynonymous SNV	RPAP3:NM_001146075:exon12:c.C1423A:p.Q475K	.	.	427	1094	1	0	0	1	0.00045683	0.0009	0.14	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9	T	0.089	B	0.029	B	0.040	N	1.000	N	1.5	L	3.08	T	-0.848	T	0.040	T	0.186	1.959	12.51	4.95	1.463	3.295	14.095	0.107	0.0107318389037	.	.	1.653e-05	0	0	0	0	1.502e-05	0	6.13e-05	1.29e-05	2	154602	rs766133338	6.419e-06	1.439e-05	2.854e-06	9.983e-06	4.708e-05	3.02e-06	2.19e-06	1.599e-05	9.41e-06	0	0	0	0	0	0	3.782e-06	1.712e-05	4.708e-05	6.57e-06	6.567e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.374	0.14645	T	0.642	0.06925	T	0.054	0.25085	B	0.013	0.21540	B	0.040329	0.01876	N	1.859290	0.999999	0.08975	N	1.78	0.46185	L	3.03	0.12988	T	-0.42	0.16799	N	0.124	0.16168	-0.8476	0.52134	T	0.040	0.17149	T	10	0.109948516	0.20531	T	0.010732	0.27599	T	0.107	0.30369	0.266	0.21261	0.134241683229	0.13084	0.14642501328835972	0.14564	0.0777069865228	0.08742	0.231868594885	0.02110	T	0.01993	0.15785	T	-0.30653	0.08057	T	-0.577456	0.14772	T	0.169423073530197	0.18541	T	0.588241	0.23564	T	0.098502	0.23234	0.0638515	0.12709	0.098502	0.23233	0.0638515	0.12709	-3.11	0.12751	T	.	.	0.070	0.04198	B	.;.;.	.;.;.	1.620149	0.20694	14.87	0.76972510375552894	0.11684	0.93267	0.57762	D	AEFBI	0.230095	0.35352	N	-0.474156207423419	0.22929	1.227796	-0.374929013944887	0.25746	1.418	0.428440537077697	0.20350	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.84	4.95	0.64894	2.362000	0.43823	7.402000	0.58581	0.676000	0.76740	0.392000	0.26104	0.999000	0.35428	0.484000	0.28656	0.0:0.1507:0.8493:0.0	14.095	0.64540	895	0.25842	.;.;.	.	.	.	.	.	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	865.98	35	chr12	47670108	.	G	T	865.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.690e-01;DP=774;ExcessHet=0.0000;FS=2.939;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.73;ReadPosRankSum=0.354;SOR=1.061	GT:AD:DP:GQ:PL	0/1:52,37:89:99:880,0,1384	20	0	1	0
chr12	49587661	49587661	G	A	exonic	FAM186B	.	nonsynonymous SNV	FAM186B:NM_032130:exon7:c.C2626T:p.R876W,	.	.	426	1093	3	0	0	3	0.00137049	.	.	2218641	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.020	N	1.000	D	-2.36	N	4.14	T	-0.984	T	0.002	T	0.462	-0.893	0.452	4.24	0.487	2.462	4.874	0.203	0.00576565388341	7.7e-05	0.000199681	0.0002	0	0	0	0	0.0001	0	0.0010	0.0001617	25	154602	rs150528924	0.0001	0.0001	7.489e-05	0.0001	0.0012	8.716e-05	8.203e-05	0.0007	0.0006	5.975e-05	2.236e-05	0	0	0	0.0012	4.317e-05	0.0003	0.0008	8.539e-05	8.53e-05	7.712e-05	9.404e-05	0.0004	4.956e-05	3.961e-05	7.299e-05	3.032e-05	4.816e-05	0	0	0	0	0	0.0102	7.352e-05	0.0005	0.0004	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.020265	0.27075	N	0.183014	1	0.81001	D	-2.58	0.00045	N	4.0	0.03239	T	12.94	0.00035	N	0.225	0.25253	-0.9838	0.34116	T	0.002	0.00707	T	10	0.005750537	0.00128	T	0.005766	0.14952	T	0.203	0.48915	.	.	0.0297737177859	0.01360	0.21796326510455946	0.21712	0.131956524473	0.14876	0.427430331707	0.28857	T	0.015554	0.13024	T	-0.196471	0.21314	T	-0.519993	0.20296	T	0.16488978266716	0.18226	T	0.527447	0.17405	T	0.058829036	0.11882	0.04223312	0.04983	0.058829036	0.11882	0.04223312	0.04983	-4.421	0.29840	T	.	.	0.058	0.00636	B	.;.	.;.	2.470145	0.31833	18.86	0.78890073690028095	0.12497	0.02989	0.07845	N	AEFDBHCI	0.032289	0.03615	N	-1.36112774893899	0.03011	0.133848	-1.05316942776449	0.08641	0.4258634	0.986819625092286	0.31130	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	5.4	4.24	0.49486	2.510000	0.45129	5.019000	0.46730	-0.639000	0.04456	0.983000	0.35670	1.000000	0.68203	0.632000	0.32210	0.7518:0.0:0.0861:0.1621	4.874	0.13004	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	1071.98	37	chr12	49587661	.	G	A	1071.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.744;DP=808;ExcessHet=0.0000;FS=6.489;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.05;ReadPosRankSum=-2.070e+00;SOR=1.312	GT:AD:DP:GQ:PL	0/1:54,43:97:99:1086,0,1369	20	0	1	0
chr12	51890664	51890664	G	A	exonic	ANKRD33	.	nonsynonymous SNV	ANKRD33:NM_001304460:exon4:c.G136A:p.V46M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.891	P	0.148	N	1.000	N	2.11	M	0.71	T	-0.417	T	0.477	T	0.511	1.866	12.20	4.8	2.649	1.434	9.194	0.359	0.0733824760429	7.7e-05	.	6.806e-05	0.0002	8.77e-05	0	0	7.768e-05	0	0	5.82e-05	9	154602	rs368101868	2.268e-05	2.394e-05	1.916e-05	2.624e-05	0.0002	1.618e-05	1.423e-05	7.281e-05	5.16e-05	8.961e-05	0.0002	0.0001	0	0	0.0002	1.169e-05	8.285e-05	1.159e-05	6.564e-05	6.561e-05	7.707e-05	5.37e-05	0.0001	3.513e-05	2.614e-05	4.726e-05	3.045e-05	0.0001	0	6.532e-05	0.0009	0	0	0	1.47e-05	0	0	0.007	0.59928	D	0.01	0.65728	D	.	.	.	.	.	.	0.148183	0.18056	N	0.558017	1	0.08975	N	.	.	.	-0.91	0.75001	T	-1.73	0.43717	N	0.334	0.37509	-0.4174	0.71475	T	0.477	0.79966	T	10	0.20476136	0.36679	T	0.073382	0.71774	D	0.359	0.67962	.	.	0.792929212948	0.79100	0.5514651375383444	0.55072	0.272877571369	0.29797	0.423445880413	0.28311	T	.	.	.	-0.204236	0.20195	T	-0.23766	0.51028	T	0.10339268296957	0.12726	T	0.69753	0.30746	T	0.083980605	0.19417	0.12527585	0.30188	0.083980605	0.19417	0.12527585	0.30187	-7.723	0.66518	D	.	.	0.210	0.43828	B	.;.	.;.	3.725850	0.53274	23.3	0.99707313348036863	0.81074	0.22380	0.21727	N	AEFDBI	0.103105	0.20666	N	0.124380096835493	0.47602	2.98362	-0.0305994634116178	0.38339	2.257439	0.999771738013221	0.42865	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	4.8	0.61157	1.602000	0.36393	8.188000	0.76787	0.676000	0.76740	0.056000	0.21631	1.000000	0.68203	0.380000	0.26335	0.0974:0.0:0.9026:0.0	9.194	0.36379	397	0.82902	.;.	.	.	.	.	.	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	3278.98	80	chr12	51890664	.	G	A	3278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=2819;ExcessHet=0.0000;FS=0.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.90;ReadPosRankSum=0.318;SOR=0.751	GT:AD:DP:GQ:PL	0/1:107,113:220:99:3293,0,2919	20	0	1	0
chr12	52316960	52316960	G	A	exonic	KRT83	.	nonsynonymous SNV	KRT83:NM_002282:exon5:c.C814T:p.R272W,	.	YES	0	1521	1	0	0	1	0.000328623	.	.	3269532	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.115	B	0.178	B	0.002	U	0.996	D	3.695	H	-1.13	T	0.095	D	0.564	D	0.848	2.954	15.85	2.99	0.739	3.719	12.956	0.662	0.021760423153	.	.	7.413e-05	9.61e-05	0	0	0	8.99e-05	0.0022	0	7.12e-05	11	154602	rs775360623	0.0001	0.0001	0.0001	0.0001	0.0005	9.468e-05	8.949e-05	0.0001	9.742e-05	2.987e-05	2.236e-05	0	0	1.872e-05	0.0005	0.0001	0.0003	1.159e-05	0.0001	0.0001	0.0001	8.073e-05	0.0002	6.514e-05	5.325e-05	9.048e-05	7.012e-05	9.659e-05	0	6.545e-05	0	0	0	0	0.0002	0	0	0.025	0.47320	D	0.018	0.59732	D	0.115	0.26429	B	0.178	0.35748	B	0.002039	0.37411	U	0.000000	0.99625	0.43101	D	.	.	.	-1.13	0.77719	T	-6.6	0.92042	D	0.818	0.81360	0.095	0.84076	D	0.564	0.84175	D	10	0.8922057	0.88565	D	0.02176	0.44572	T	0.662	0.87381	.	.	0.687612352757	0.68493	0.12652405071233017	0.12578	0.19407768527	0.21745	0.536508619785	0.43953	T	0.547425	0.84614	D	0.118226	0.66193	D	0.147382	0.80018	D	0.485309281662013	0.32092	T	0.915808	0.69967	D	0.62397826	0.73976	0.55902416	0.74488	0.62397826	0.73977	0.55902416	0.74489	-7.968	0.60852	D	0.5009849753343736	0.57620	0.330	0.55201	B	.	.	3.810288	0.54953	23.6	0.99824732761495349	0.90677	0.95320	0.64263	D	AEFDGBI	0.743830	0.68701	D	0.138014001085246	0.48245	3.039245	0.134001119536022	0.46299	2.878209	0.999993815130965	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.9	2.99	0.33673	3.220000	0.50909	.	.	0.676000	0.76740	1.000000	0.71638	0.012000	0.20211	0.997000	0.79791	0.0:0.0:0.8366:0.1634	12.956	0.57824	717	0.55835	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	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	4426.98	39	chr12	52316960	.	G	A	4426.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.03;DP=2048;ExcessHet=0.0000;FS=0.837;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=-1.000e+00;QD=13.42;ReadPosRankSum=1.65;SOR=0.626	GT:AD:DP:GQ:PL	0/1:166,164:330:99:4441,0,4300	20	0	1	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|1:62,25,0:87:99:0|1:52949249_G_A:863,0,2528,1050,2603,3653:52949249	0	0	20	0
chr12	52951595	52951595	G	A	exonic	KRT18	.	nonsynonymous SNV	KRT18:NM_000224:exon4:c.G772A:p.E258K	Cirrhosis, cryptogenic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3272969	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.52	T	0.027	B	0.013	B	0.194	N	0.875	N	0.39	N	-2.49	D	-0.600	T	0.439	T	0.173	0.755	8.001	3.59	2.311	0.857	13.487	0.211	0.0406890940888	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347876514	9.577e-06	9.577e-06	4.084e-06	1.513e-05	2.987e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	2.987e-05	2.236e-05	0	0	0	0	8.993e-06	3.312e-05	0	6.577e-06	6.569e-06	0	1.347e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	1.0	0.00964	T	0.94	0.03030	T	0.007	0.19556	B	0.013	0.16460	B	0.193793	0.16776	N	0.513353	0.874503	0.28153	N	0.38	0.12130	N	-2.49	0.89145	D	0.69	0.02195	N	0.193	0.23506	-0.5999	0.64822	T	0.439	0.77765	T	10	0.09586775	0.17154	T	0.040689	0.59514	D	0.211	0.50185	.	.	0.564807590308	0.56144	0.33711777426591916	0.33624	0.609901705907	0.55697	0.367310762405	0.20445	T	0.321506	0.69260	T	-0.0969311	0.36933	T	-0.294146	0.45341	T	0.285273253917694	0.24392	T	0.725627	0.33984	T	0.15977314	0.35872	0.13554487	0.32450	0.15977314	0.35872	0.13554487	0.32449	-8.963	0.67458	D	0.10965201983919194	0.09178	0.206	0.43227	B	.;.;.	.;.;.	2.327061	0.29806	18.24	0.90549147926805984	0.19804	0.30971	0.24219	N	AEFBHCI	0.812927	0.73553	D	-0.592304290303385	0.19177	1.00163	-0.478043993983517	0.22760	1.237794	0.999999999490694	0.74766	0.722319	0.85440	0	0.588764	0.42986	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	3.59	3.59	0.40253	0.872000	0.27688	.	.	0.596000	0.33519	0.024000	0.20007	0.999000	0.35428	0.971000	0.54645	0.0:0.0:1.0:0.0	13.487	0.60826	764	0.49969	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain;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	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.25	145.98	43	chr12	52951595	.	G	A	145.98	.	AC=4;AF=0.250;AN=16;BaseQRankSum=-1.195e+00;DP=797;ExcessHet=0.7148;FS=135.113;InbreedingCoeff=-0.3042;MLEAC=5;MLEAF=0.313;MQ=60.00;MQRankSum=0.00;QD=0.81;ReadPosRankSum=0.495;SOR=7.111	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,4:39:4:0|1:52951595_G_A:4,0,1290:52951595	4	0	4	13
chr12	53939187	53939187	C	A	exonic	HOXC13	.	nonsynonymous SNV	HOXC13:NM_017410:exon1:c.C281A:p.T94K,	Ectodermal dysplasia 9, hair/nail type, Autosomal recessive	.	12	1487	23	0	0	23	0.00767434	.	.	1640822	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.11	T	0.485	P	0.339	B	0.032	N	1.000	D	1.965	M	0.93	T	-0.943	T	0.125	T	0.359	3.126	16.45	2.18	0.875	4.036	11.043	0.066	.	0.0020	0.00179712	0.0106	0	0	0	.	0.0202	0.0303	0.0080	0.001313	203	154602	rs35956662	0.0034	0.0033	0.0033	0.0035	0.0067	0.0033	0.0033	0.0054	0.0053	0.0006	0.0019	0.0097	0	0.0001	0.0067	0.0033	0.0052	0.0059	0.0026	0.0026	0.0025	0.0026	0.0075	0.0024	0.0023	0.0055	0.0049	0.0007	0.0044	0.0027	0.0098	0.0002	9.422e-05	0.0034	0.0035	0.0019	0.0075	0.026	0.46910	D	0.479	0.11933	T	0.485	0.36856	P	0.339	0.42346	B	0.031578	0.25149	N	0.371947	0.999716	0.48481	D	2.085	0.57729	M	0.93	0.44065	T	-1.04	0.27259	N	0.268	0.30347	-0.9433	0.42089	T	0.125	0.42924	T	10	0.008624017	0.00195	T	.	.	.	0.066	0.19193	.	.	0.813705457287	0.81195	0.403404937846777	0.40256	1.12689119134	0.78475	0.935851693153	0.99285	D	0.089463	0.38377	T	-0.440038	0.01293	T	-0.401692	0.33188	T	0.0272756134646228	0.01583	T	0.856014	0.54441	D	0.15031296	0.34224	0.25240475	0.50869	0.17038836	0.37610	0.25978565	0.51732	-3.722	0.19643	T	.	.	0.413	0.60281	A	.	.	3.903456	0.56875	23.8	0.97037023126608246	0.32093	0.63047	0.31968	D	AEFDGBHCI	0.504548	0.53607	D	0.000596177405441434	0.41883	2.513233	-0.00366675158406025	0.39549	2.346664	0.99999999999984	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.616487	0.41570	0	0.63947	0.58350	0	.	.	3.1	2.18	0.26813	4.016000	0.56871	5.820000	0.50076	0.529000	0.24592	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.1887:0.8113:0.0:0.0	11.043	0.47059	214	0.91692	Homeobox protein Hox1A3 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	1	0	0	0	0	0	0	0.02381	431.98	36	chr12	53939187	.	C	A	431.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.565;DP=773;ExcessHet=0.0000;FS=4.498;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.82;ReadPosRankSum=0.540;SOR=0.249	GT:AD:DP:GQ:PL	0/1:31,18:49:99:446,0,899	20	0	1	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	0/1:63,31:94:99:113,0,1463	6	0	10	5
chr12	55130037	55130037	A	G	exonic	OR9K2	.	nonsynonymous SNV	OR9K2:NM_001005243:exon1:c.A269G:p.N90S,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.26	T	0.985	D	0.86	P	0.000	D	0.504	D	2.035	M	2.65	T	-0.984	T	0.076	T	0.16	3.186	16.66	4.98	2.223	4.181	14.810	0.144	0.00431344909494	.	.	.	.	.	.	.	.	.	.	.	.	.	rs771600693	1.376e-06	1.301e-05	1.369e-06	1.382e-06	1.162e-05	2.3e-07	9e-08	.	.	0	0	0	0	1.916e-05	0	0	0	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.21224	T	0.178	0.29639	T	0.985	0.61118	D	0.86	0.61233	P	0.000042	0.53742	D	0.000000	0.504326	0.31767	D	1.62	0.41497	L	2.65	0.12676	T	-3.15	0.64132	D	0.176	0.18920	-0.9843	0.33998	T	0.076	0.30645	T	10	0.28129894	0.45706	T	0.004313	0.10467	T	0.144	0.38394	0.467	0.53891	0.454145904683	0.45038	0.395301661808567	0.39445	0.0199640575762	0.01959	0.255974888802	0.04423	T	0.013731	0.11823	T	-0.242355	0.15051	T	-0.585903	0.14022	T	0.806055068969727	0.46770	D	0.713029	0.32487	T	0.20844452	0.43081	0.3065049	0.56675	0.20844452	0.43081	0.3065049	0.56675	-5.812	0.44679	T	.	.	0.110	0.24532	B	.;.;.	.;.;.	3.261191	0.44598	22.0	0.99814947840031498	0.89885	0.92047	0.54827	D	AEFBI	0.357541	0.44853	N	0.512638152296228	0.67835	5.135115	0.487860843091837	0.67183	5.050222	0.0100889562602125	0.11964	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	4.98	0.65679	3.250000	0.51146	.	.	0.754000	0.88378	0.058000	0.21700	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	14.810	0.69612	862	0.33134	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	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	36.98	33	chr12	55130037	.	A	G	36.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.001e+00;DP=1905;ExcessHet=0.0000;FS=148.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=0.20;ReadPosRankSum=1.32;SOR=7.743	GT:AD:DP:GQ:PL	0/1:156,30:186:51:51,0,3697	20	0	1	0
chr12	55840810	55840810	C	T	exonic	MMP19	.	nonsynonymous SNV	MMP19:NM_001272101:exon4:c.G377A:p.R126Q	Cavitary optic disc anomalies, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.836	P	0.106	B	0.015	N	0.642	N	1.27	L	2.5	T	-1.048	T	0.032	T	0.198	2.816	15.38	3.97	1.468	1.117	11.221	0.069	0.00758785186224	7.7e-05	.	0.0002	0.0002	0.0002	0	0	0.0004	0	0	0.000207	32	154602	rs151295753	0.0004	0.0004	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	2.99e-05	0.0002	3.832e-05	2.524e-05	0	0	0.0005	0.0003	1.16e-05	0.0003	0.0003	0.0003	0.0002	0.0005	0.0002	0.0002	0.0004	0.0003	9.661e-05	0	0.0001	0	0	9.42e-05	0	0.0005	0	0	0.253	0.48186	T	0.484	0.38016	T	0.473	0.36591	P	0.072	0.28043	B	0.014561	0.28499	N	0.395949	0.999987	0.18612	N	1.52	0.38360	L	2.5	0.21865	T	-0.77	0.58733	N	0.249	0.33469	-1.0483	0.14875	T	0.032	0.13635	T	10	0.09392044	0.16659	T	0.007588	0.20139	T	0.069	0.20116	.	.	0.507031862817	0.50341	0.6620516257904264	0.66142	0.262508907343	0.28810	0.295750081539	0.09769	T	0.068097	0.33369	T	-0.448639	0.01150	T	-0.562206	0.16169	T	0.0258782766759396	0.01390	T	0.723828	0.34942	T	0.09852316	0.23239	0.10035183	0.23991	0.09852316	0.23239	0.10035183	0.23991	-6.113	0.47215	T	.	.	0.108	0.34361	B	.;.;.	.;.;.	2.939999	0.39084	20.9	0.99777758586681553	0.86519	0.20207	0.20955	N	AEFBI	0.096578	0.19495	N	-0.348900876675557	0.27311	1.498	-0.290785642489873	0.28401	1.583305	0.994895949204682	0.33851	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.8	3.97	0.45241	1.737000	0.37821	.	.	-0.193000	0.09282	0.288000	0.25215	0.979000	0.30280	0.592000	0.31189	0.0:0.8459:0.0:0.1541	11.221	0.48082	697	0.58201	Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;Peptidase M10, metallopeptidase|Peptidase, metallopeptidase|Peptidase M10A, catalytic domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1078.98	41	chr12	55840810	.	C	T	1078.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=778;ExcessHet=0.0000;FS=11.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=-4.590e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:37,40:77:99:1093,0,923	20	0	1	0
chr12	56235615	56235615	C	A	exonic	SLC39A5	.	nonsynonymous SNV	SLC39A5:NM_001135195:exon6:c.C860A:p.P287Q	Myopia 24, autosomal dominant, Autosomal dominant	.	419	1102	1	0	0	1	0.000453515	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.999	D	0.966	D	0.026	N	0.698	N	2.025	M	0.85	T	-0.682	T	0.225	T	0.653	1.787	11.93	2.81	1.146	1.621	7.228	0.192	0.0178559568225	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.31532	T	0.533	0.10000	T	0.999	0.77913	D	0.966	0.71341	D	0.026472	0.25914	N	0.268702	0.698111	0.30129	N	0.62	0.15745	N	0.85	0.47130	T	0.51	0.02898	N	0.366	0.40765	-0.6825	0.61257	T	0.225	0.58995	T	10	0.31561443	0.48990	T	0.017856	0.39721	T	0.192	0.47115	0.379	0.39482	0.344251166708	0.34027	0.3489428789333552	0.34808	0.52805192639	0.50397	0.513686656952	0.40738	T	0.011725	0.10420	T	-0.00890648	0.50418	T	-0.25057	0.49761	T	0.753664195537567	0.43490	D	0.645335	0.25688	T	0.0968051	0.22807	0.15862152	0.37034	0.0968051	0.22807	0.15862152	0.37033	-2.41	0.05195	T	.	.	0.158	0.34970	B	.;.	.;.	3.089653	0.41597	21.4	0.98311106651457536	0.40144	0.17217	0.19740	N	AEFBCI	0.729090	0.67691	D	0.136955250487026	0.48195	3.034887	-0.0333468911254258	0.38219	2.248603	3.42575098429386E-4	0.06626	0.421363	0.06395	0	0.550933	0.16991	0	0.514364	0.09456	0	0.727631	0.95156	0	.	.	3.7	2.81	0.31971	1.309000	0.33145	4.876000	0.45617	0.596000	0.33519	0.453000	0.26589	1.000000	0.68203	0.141000	0.19983	0.0:0.8798:0.0:0.1202	7.228	0.25203	438	0.80235	.;.	.	.	.	.	.	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	952.98	38	chr12	56235615	.	C	A	952.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.94;DP=810;ExcessHet=0.0000;FS=3.454;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.89;ReadPosRankSum=-2.830e-01;SOR=0.876	GT:AD:DP:GQ:PL	0/1:29,35:64:99:967,0,655	20	0	1	0
chr12	62538461	62538461	T	G	exonic	MON2	.	nonsynonymous SNV	MON2:NM_001278469:exon19:c.T2320G:p.S774A	.	.	460	1061	1	0	0	1	0.000471032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.745	P	0.431	B	0.000	D	1.000	D	0.895	L	0.57	T	-0.845	T	0.190	T	0.638	3.596	18.31	5.15	2.054	6.188	15.268	0.175	0.0663066615019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.033	0.53072	D	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	0.69	0.16971	N	-0.14	0.65006	T	-1.34	0.33401	N	0.396	0.47022	-0.8451	0.52304	T	0.190	0.54138	T	9	0.4458321	0.58389	T	0.066307	0.69835	D	0.175	0.44197	0.668	0.80602	0.301078425253	0.29709	0.1955620335113717	0.19473	.	.	0.828059077263	0.86265	D	0.024713	0.18622	T	0.0821275	0.62288	D	-0.119806	0.61819	T	0.898415505886078	0.55051	D	0.957004	0.97826	D	0.24412848	0.47359	0.21712464	0.46367	0.24412848	0.47359	0.21712464	0.46366	-3.696	0.23864	T	.	.	0.097	0.19154	B	.;.;.;.;.;.	.;.;.;.;.;.	3.887437	0.56536	23.7	0.99406067902652939	0.63028	0.98327	0.81666	D	AEFBI	0.724608	0.67385	D	0.233953487493469	0.52851	3.456785	0.345842798578083	0.58259	3.995306	0.99999999887989	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.631631	0.49550	0	.	.	5.15	5.15	0.70287	6.147000	0.71549	7.821000	0.69751	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.0:0.0:1.0	15.268	0.73380	752	0.51611	.;.;.;.;.;.	.	.	.	.	.	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	1301.98	33	chr12	62538461	.	T	G	1301.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.070e-01;DP=804;ExcessHet=0.0000;FS=4.512;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.42;ReadPosRankSum=0.153;SOR=1.039	GT:AD:DP:GQ:PL	0/1:59,55:114:99:1316,0,1502	20	0	1	0
chr12	64108967	64108967	C	T	exonic	SRGAP1	.	nonsynonymous SNV	SRGAP1:NM_001346201:exon16:c.C1780T:p.R594C	.	.	430	1083	9	0	0	9	0.00413793	.	.	204983	Thyroid_cancer,_nonmedullary,_2|SRGAP1-related_disorder	MONDO:MONDO:0008566,MedGen:C4225426,OMIM:188470|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	1.0	D	0.982	D	0.059	U	1.000	D	3.225	M	2.03	T	-0.617	T	0.205	T	0.953	5.436	35	5.2	2.822	7.687	19.629	0.483	0.286629796113	0.0014	0.000599042	0.0011	0.0004	0.0003	0.0001	0.0002	0.0017	0.0044	0.0005	0.0010155	157	154602	rs114817817	0.0009	0.0009	0.0009	0.0010	0.0082	0.0009	0.0009	0.0064	0.0057	0.0003	0.0008	0.0012	2.528e-05	0.0001	0.0082	0.0010	0.0013	0.0008	0.0010	0.0010	0.0010	0.0010	0.0027	0.0009	0.0008	0.0021	0.0019	0.0002	0	0.0027	0.0009	0	0	0	0.0014	0.0014	0.0004	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.982	0.75477	D	0.058512	0.22396	U	0.216473	1	0.81001	D	3.345	0.91022	M	2.03	0.20959	T	-5.04	0.82638	D	0.839	0.89689	-0.6169	0.64117	T	0.205	0.56307	T	9	0.212701	0.37738	T	0.28663	0.90419	D	0.483	0.77271	.	.	0.574025660704	0.57070	0.721531588012623	0.72097	0.965204057572	0.73154	0.76381778717	0.76499	T	0.197032	0.55358	T	-0.0346167	0.46744	T	0.164269	0.81066	D	0.135024799091517	0.15838	T	0.993001	0.97720	D	0.3574266	0.57639	0.37712714	0.62819	0.34536403	0.56704	0.3288049	0.58765	-11.13	0.80365	D	.	.	0.261	0.50287	B	.;.;.	.;.;.	5.891573	0.93966	33	0.99929663504231325	0.99279	0.98807	0.87109	D	AEFBI	0.916984	0.88396	D	0.906928332463023	0.92093	11.230	0.849146933871775	0.92966	11.74105	1.0	0.98316	0.651	0.46895	0	0.588015	0.36545	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.2	5.2	0.71720	7.816000	0.84708	7.647000	0.63496	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:1.0:0.0:0.0	19.629	0.95689	917	0.20147	Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein domain;Rho GTPase-activating protein domain|Rho GTPase-activating protein domain|Rho GTPase-activating protein 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	514.98	33	chr12	64108967	.	C	T	514.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.09;DP=736;ExcessHet=0.0000;FS=3.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.88;ReadPosRankSum=-2.400e-02;SOR=1.287	GT:AD:DP:GQ:PL	0/1:36,22:58:99:529,0,820	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|1:73,18:91:99:0|1:70329450_T_C:356,0,2472:70329450	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|1:73,18:91:99:0|1:70329450_T_C:356,0,2472:70329450	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	0/1:5,10,6,2:24:14:257,0,131,104,14,157,280,71,153,467	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	0/1:5,10,6,2:24:14:257,0,131,104,14,157,280,71,153,467	3	0	8	0
chr12	76059802	76059802	A	G	exonic	NAP1L1	.	nonsynonymous SNV	NAP1L1:NM_001330232:exon4:c.T236C:p.I79T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.741	P	0.287	B	0.000	D	1.000	D	0.505	N	1.0	T	-1.072	T	0.067	T	0.312	2.059	12.84	5.49	2.213	9.009	12.985	0.154	0.0140890462673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.298e-05	0.0001	1.007e-05	1.59e-05	3.167e-05	8.11e-06	6.69e-06	6.9e-06	5.32e-06	3.167e-05	0	0	0	0	0	1.237e-05	3.459e-05	2.454e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.58626	T	0.515	0.10643	T	0.741	0.42992	P	0.232	0.40572	B	0.000212	0.47681	D	0.219991	0.940363	0.81001	D	1.35	0.33515	L	1.0	0.41392	T	-1.96	0.50666	N	0.224	0.26111	-1.0717	0.09043	T	0.067	0.27708	T	10	0.21725681	0.38332	T	0.014089	0.33970	T	0.154	0.40340	0.451	0.51285	0.265735104816	0.26182	0.28783724609276506	0.28696	0.828852337507	0.67540	0.57043671608	0.48739	T	0.091695	0.38850	T	-0.0750447	0.40518	T	-0.345573	0.39712	T	0.783953189849854	0.45299	D	0.659534	0.37862	T	0.10568608	0.24989	0.1311999	0.31509	0.10568608	0.24989	0.1311999	0.31508	-8.678	0.65603	D	.	.	0.270	0.65692	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.388031	0.67691	25.1	0.9712404844935334	0.32469	0.99811	0.99622	D	AEFBI	0.923144	0.89919	D	0.0872240292922002	0.45869	2.836197	0.26620784129639	0.53577	3.525932	0.999999917027058	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	5.49	5.49	0.81022	9.263000	0.94779	11.266000	0.91241	0.733000	0.85838	1.000000	0.71638	1.000000	0.68203	0.972000	0.54974	0.8656:0.1344:0.0:0.0	12.985	0.57988	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	0.09524	575.92	35	chr12	76059802	.	A	G	575.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.663e+00;DP=1238;ExcessHet=0.6776;FS=149.322;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=1.36;ReadPosRankSum=-1.420e-01;SOR=9.129	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,14:101:47:0|1:76059802_A_G:47,0,2679:76059802	17	0	4	0
chr12	80549582	80549582	A	G	exonic	PTPRQ	.	nonsynonymous SNV	PTPRQ:NM_001145026:exon25:c.A4133G:p.E1378G,	Deafness, autosomal recessive 84A, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.002	B	0.017	B	.	.	1.000	N	.	.	0.62	T	-1.019	T	0.093	T	0.792	-0.213	2.967	1.79	0.048	1.247	9.346	0.127	0.0027077475254	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429575439	5.004e-06	4.788e-06	2.821e-06	7.246e-06	0.0002	2.08e-06	1.34e-06	8.7e-07	5.9e-07	0	0	0	0	0	0.0002	3.708e-06	3.449e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.18395	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.102	0.19593	-1.0190	0.24041	T	0.093	0.35498	T	8	0.20038566	0.36083	T	0.002708	0.05579	T	.	.	0.462	0.53079	0.234412748748	0.23057	0.6282205870740719	0.62755	.	.	0.363525301218	0.19898	T	0.010589	0.09546	T	0.151046	0.69366	D	-0.00532311	0.69990	D	0.0700995244622825	0.08666	T	0.688631	0.29780	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.03231	B	.;.;.	.;.;.	1.498880	0.19271	14.18	0.80972232383243359	0.13457	0.53878	0.29478	D	AEFBIJ	0.088589	0.17960	N	-0.199467044611381	0.33157	1.877947	-0.23419647297749	0.30320	1.706115	0.0163790384156863	0.12824	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	1.79	0.23992	1.253000	0.32488	2.529000	0.33158	0.756000	0.94297	0.998000	0.41325	0.990000	0.31317	0.769000	0.36481	0.6864:0.0:0.3136:0.0	9.346	0.37269	908	0.22609	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	0.02381	2270.98	34	chr12	80549582	.	A	G	2270.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.095;DP=885;ExcessHet=0.0000;FS=3.990;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.30;ReadPosRankSum=-7.370e-01;SOR=0.960	GT:AD:DP:GQ:PL	0/1:107,94:201:99:2285,0,2584	20	0	1	0
chr12	98533500	98533500	T	A	exonic	TMPO	.	nonsynonymous SNV	TMPO:NM_003276:exon4:c.T1243A:p.S415T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.005	B	0.005	B	0.725	N	1.000	N	0.695	N	1.36	T	-1.020	T	0.053	T	0.208	1.956	12.50	3.13	1.073	1.320	4.871	0.021	0.00546054453013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.287	0.21210	T	0.005	0.12996	B	0.005	0.11217	B	0.724986	0.09903	N	0.873437	1	0.18878	N	1.04	0.26193	L	1.36	0.34452	T	-0.66	0.19085	N	0.123	0.11483	-1.0203	0.23616	T	0.053	0.22346	T	10	0.048615307	0.04337	T	0.005461	0.14045	T	0.021	0.04004	0.115	0.02372	0.115124310173	0.11017	0.1212878076521397	0.12055	0.0786725316196	0.08852	0.413737684488	0.26973	T	0.179619	0.53068	T	-0.17265	0.24834	T	-0.485776	0.23835	T	0.250317791962924	0.22887	T	0.417258	0.10990	T	0.19753411	0.41622	0.16730449	0.38605	0.19753411	0.41622	0.16730449	0.38604	-4.005	0.23878	T	0.5874894566696379	0.65429	0.094	0.14477	B	.	.	1.556603	0.19942	14.51	0.98217725632105624	0.39272	0.13071	0.17646	N	AEFBCI	0.065992	0.12902	N	-0.723651613717197	0.15358	0.7732975	-0.656816237698051	0.18045	0.9622372	0.995985134095809	0.34450	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.65	3.13	0.35090	1.302000	0.33063	2.258000	0.31739	0.665000	0.62972	0.177000	0.24026	0.989000	0.31174	0.975000	0.56047	0.1623:0.087:0.0:0.7507	4.871	0.12990	823	0.40596	.	.	.	.	.	.	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	5875.98	36	chr12	98533500	.	T	A	5875.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.20;DP=1402;ExcessHet=0.0000;FS=2.429;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.70;ReadPosRankSum=0.464;SOR=0.870	GT:AD:DP:GQ:PL	0/1:225,204:429:99:5890,0,6469	20	0	1	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	0/1:11,23,0,0,0:34:99:856,0,364,890,433,1323,890,433,1323,1323,890,433,1323,1323,1323	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	0/1:11,23,0,0,0:34:99:856,0,364,890,433,1323,890,433,1323,1323,890,433,1323,1323,1323	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	0/1:11,23,0,0,0:34:99:856,0,364,890,433,1323,890,433,1323,1323,890,433,1323,1323,1323	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	0/1:11,23,0,0,0:34:99:856,0,364,890,433,1323,890,433,1323,1323,890,433,1323,1323,1323	6	1	11	0
chr12	104304711	104304711	A	G	exonic	EID3	.	nonsynonymous SNV	EID3:NM_001008394:exon1:c.A777G:p.I259M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.977	D	0.971	D	.	.	1.000	N	1.475	L	0.84	T	-0.872	T	0.158	T	0.437	2.813	15.37	0.502	0.330	-0.285	1.056	0.302	0.0110231514622	.	.	0.0001	0	0	0	0	4.518e-05	0	0.0007	9.06e-05	14	154602	rs753380448	5.269e-05	5.267e-05	2.587e-05	7.978e-05	0.0007	4.279e-05	3.954e-05	0.0005	0.0004	0	2.24e-05	0	0	0	0.0007	1.619e-05	6.627e-05	0.0006	5.256e-05	5.253e-05	2.569e-05	8.069e-05	0.0006	2.557e-05	1.83e-05	0.0002	8.989e-05	4.826e-05	0	0	0	0	0	0	4.41e-05	0	0.0006	0.113	0.28772	T	0.042	0.50226	D	0.977	0.58535	D	0.971	0.72444	D	.	.	.	.	1	0.81001	D	0.835	0.21042	L	0.84	0.47477	T	-1.41	0.34795	N	0.244	0.27554	-0.8715	0.50416	T	0.158	0.49060	T	9	0.25183886	0.42529	T	0.011023	0.28208	T	0.302	0.62290	0.733	0.86633	0.378322506985	0.37446	0.36985087594658306	0.36899	0.593432301809	0.54691	0.473144888878	0.35113	T	0.049631	0.28362	T	-0.38123	0.03060	T	-0.435955	0.29261	T	0.190396830439568	0.19868	T	0.783822	0.42110	T	0.10431016	0.24658	0.13143653	0.31561	0.10431016	0.24658	0.13143653	0.31560	-6.762	0.52276	T	.	.	0.098	0.16275	B	.	.	2.068300	0.26303	17.07	0.99414380180071316	0.63453	0.45859	0.27632	N	AEDBCI	0.125795	0.24245	N	0.0762573660707375	0.45356	2.793574	-0.00143913966828166	0.39650	2.354222	0.999990507025234	0.74766	0.608746	0.35421	0	0.627608	0.54475	0	0.408882	0.06424	0	0.349732	0.05809	1	.	.	4.45	0.502	0.16138	-0.754000	0.04892	0.200000	0.15841	0.756000	0.94297	0.606000	0.27796	0.591000	0.25671	0.999000	0.91618	0.4995:0.2077:0.1085:0.1843	1.056	0.01491	626	0.65439	Non-structural maintenance of chromosome element 4, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	2500.98	37	chr12	104304711	.	A	G	2500.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=943;ExcessHet=0.0000;FS=1.114;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.89;ReadPosRankSum=0.230;SOR=0.796	GT:AD:DP:GQ:PL	0/1:105,89:194:99:2515,0,2765	20	0	1	0
chr12	111598993	111598993	C	0	exonic	ATXN2	.	.	.	Spinocerebellar ataxia 2, Autosomal dominant	.	265	331	379	543	4	1469	0.688764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6905	29227.06	33	chr12	111598993	.	C	*,T	29227.06	.	AC=3,29;AF=0.071,0.690;AN=42;BaseQRankSum=-2.220e-01;DP=1084;ExcessHet=0.2067;FS=0.000;InbreedingCoeff=0.2125;MLEAC=3,29;MLEAF=0.071,0.690;MQ=60.00;MQRankSum=0.00;QD=30.73;ReadPosRankSum=-7.290e-01;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:29,0,13:42:99:0|1:111598949_GGCT_G:382,469,1495,0,1026,987:111598949	2	0	0	0
chr12	113191494	113191494	G	A	exonic	RITA1	.	nonsynonymous SNV	RITA1:NM_001286215:exon3:c.G559A:p.A187T	.	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	T	0.979	D	0.846	P	0.016	N	1.000	N	2.005	M	0.97	T	-0.964	T	0.166	T	0.465	0.739	7.921	2.75	0.542	1.469	5.516	0.214	0.0265300442722	.	.	8.488e-06	0	0	0	0	1.538e-05	0	0	6.5e-06	1	154602	rs764582812	2.545e-05	2.531e-05	2.595e-05	2.495e-05	0.0030	1.878e-05	1.64e-05	0.0019	0.0015	2.998e-05	0	0	0	0	0.0030	1.266e-05	6.677e-05	1.164e-05	3.283e-05	3.281e-05	3.855e-05	2.685e-05	2.941e-05	1.26e-05	7.97e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0.0102	2.941e-05	0	0	0.006	0.61437	D	0.089	0.42794	T	0.979	0.59044	D	0.846	0.60472	P	0.016408	0.27986	N	0.232809	1	0.08975	N	1.59	0.40313	L	0.97	0.42502	T	-2.19	0.49352	N	0.19	0.21056	-0.9639	0.38428	T	0.166	0.50437	T	10	0.12776682	0.24301	T	0.02653	0.49429	D	0.214	0.50650	.	.	0.245101548738	0.24120	0.22770927407286304	0.22685	0.480448835524	0.47059	.	.	.	0.023468	0.17908	T	-0.173741	0.24670	T	-0.379686	0.35759	T	0.334141045808792	0.26390	T	0.679032	0.28770	T	0.10441773	0.24684	0.123187274	0.29707	0.10441773	0.24684	0.123187274	0.29706	-3.56	0.18161	T	.	.	0.197	0.42141	B	.;.;.	.;.;.	2.041188	0.25943	16.94	0.97021889785612392	0.32030	0.20987	0.21241	N	AEFBCI	0.099757	0.20073	N	-0.264898775450346	0.30513	1.70209	-0.464634568371814	0.23134	1.260098	0.99992670150237	0.46280	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.6	2.75	0.31439	2.603000	0.45930	5.171000	0.47828	0.676000	0.76740	0.165000	0.23867	1.000000	0.68203	0.163000	0.20749	0.1015:0.0:0.7024:0.1961	5.516	0.16193	728	0.54609	.;.;.	.	.	.	.	.	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	1273.98	34	chr12	113191494	.	G	A	1273.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.796;DP=802;ExcessHet=0.0000;FS=0.744;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.49;ReadPosRankSum=0.596;SOR=0.799	GT:AD:DP:GQ:PL	0/1:59,43:102:99:1288,0,1643	20	0	1	0
chr12	113384225	113384225	G	A	exonic	PLBD2	.	nonsynonymous SNV	PLBD2:NM_001159727:exon7:c.G1078A:p.A360T	.	.	428	1086	7	1	0	9	0.00412655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.141	B	0.137	B	0.185	N	0.999	N	2.045	M	2.3	T	-1.040	T	0.034	T	0.13	1.309	10.29	4.05	2.306	0.575	10.448	0.109	.	0.0022	0.00399361	0.0021	0.0044	0.0011	0	0	0.0009	0.0011	0.0083	0.0019987	309	154602	rs111420851	0.0012	0.0012	0.0009	0.0014	0.0082	0.0011	0.0011	0.0075	0.0073	0.0046	0.0022	0.0041	0	1.876e-05	0.0082	0.0004	0.0022	0.0080	0.0022	0.0022	0.0022	0.0022	0.0104	0.0020	0.0019	0.0081	0.0073	0.0042	0	0.0030	0.0023	0	0	0.0102	0.0006	0.0038	0.0104	0.573	0.06243	T	0.57	0.08870	T	0.007	0.14184	B	0.017	0.18140	B	0.185461	0.16989	N	0.609875	0.999079	0.21650	N	2.32	0.66415	M	2.3	0.16953	T	-0.57	0.17210	N	0.318	0.35832	-1.0402	0.17253	T	0.034	0.14509	T	10	0.005242914	0.00114	T	.	.	.	0.109	0.30843	.	.	0.273938319068	0.27005	0.5491429830809346	0.54840	0.350837448233	0.36927	0.282282829285	0.07813	T	0.005536	0.04992	T	-0.598101	0.00150	T	-0.626216	0.10703	T	0.0194231902395062	0.00647	T	0.855714	0.62120	D	0.044593014	0.07156	0.05721434	0.10359	0.044593014	0.07156	0.05721434	0.10359	-4.375	0.33730	T	.	.	0.076	0.05935	B	.;.	.;.	2.269451	0.29007	17.98	0.96606876652216367	0.30427	0.21451	0.21406	N	AEFDGBHCI	0.158383	0.28403	N	-0.372899479999118	0.26438	1.442919	-0.293409134501976	0.28316	1.577882	0.213493271327065	0.18268	0.743674	0.98306	0	0.724815	0.89359	0	0.630245	0.45026	0	0.714379	0.83352	0	.	.	4.98	4.05	0.46415	0.600000	0.23803	4.345000	0.43069	0.618000	0.50648	0.007000	0.17678	1.000000	0.68203	0.986000	0.61781	0.0:0.2636:0.5991:0.1373	10.448	0.43691	873	0.30802	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1880.98	40	chr12	113384225	.	G	A	1880.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.350e+00;DP=921;ExcessHet=0.0000;FS=2.224;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.04;ReadPosRankSum=0.435;SOR=0.486	GT:AD:DP:GQ:PL	0/1:59,75:134:99:1895,0,1556	20	0	1	0
chr12	113959392	113959392	T	C	exonic	RBM19	.	nonsynonymous SNV	RBM19:NM_001146698:exon5:c.A391G:p.T131A	.	.	428	1092	2	0	0	2	0.000914913	.	.	2369491	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.78	T	0.0	B	0.0	B	0.986	N	1.000	N	-0.55	N	3.53	T	-0.909	T	0.008	T	0.042	0.733	7.895	-3.19	-0.511	-0.457	14.165	0.025	0.00409407943108	0.0002	.	5.811e-05	0	0	0	0	9.035e-05	0.0011	0	4.53e-05	7	154602	rs139578414	5.927e-05	5.951e-05	5.328e-05	6.536e-05	0.0084	4.912e-05	4.53e-05	0.0065	0.0058	9.006e-05	8.983e-05	0	0	0	0.0084	2.086e-05	0.0001	1.162e-05	7.88e-05	7.874e-05	6.424e-05	9.401e-05	0.0001	4.494e-05	3.51e-05	2.258e-05	9.06e-06	0	0	0.0001	0	0	0	0.0204	4.41e-05	0.0005	0	0.222	0.18823	T	0.206	0.27056	T	0.0	0.02946	B	0.0	0.01387	B	0.986405	0.07874	N	1.005240	1	0.08975	N	-0.55	0.02420	N	3.53	0.04852	T	-0.04	0.07590	N	0.068	0.04188	-0.9092	0.46952	T	0.008	0.02679	T	10	0.024562985	0.00680	T	0.004094	0.09775	T	0.025	0.05312	.	.	0.128392430309	0.12331	0.051847504081252625	0.05126	0.121530796885	0.13691	0.215340748429	0.01058	T	0.059941	0.31251	T	-0.54856	0.00298	T	-0.800043	0.01902	T	0.0173827549559169	0.00476	T	0.485951	0.14839	T	0.027028343	0.01838	0.03817388	0.03628	0.027028343	0.01838	0.03817388	0.03628	-3.862	0.21734	T	.	.	0.059	0.00780	B	.;.;.	.;.;.	0.734202	0.11034	7.690	0.82179752946711027	0.14059	0.11894	0.16929	N	AEFBCI	0.041212	0.06235	N	-1.30824525685612	0.03580	0.1601763	-1.26998309840677	0.04842	0.2293657	0.00877152862364144	0.11738	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.27	-3.19	0.04853	-0.445000	0.06918	-1.122000	0.06265	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.750000	0.35786	0.0:0.6455:0.0:0.3545	14.165	0.65008	946	0.12043	.;.;.	.	.	.	.	.	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	912.98	34	chr12	113959392	.	T	C	912.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.77;DP=783;ExcessHet=0.0000;FS=4.276;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=-9.550e-01;SOR=1.248	GT:AD:DP:GQ:PL	0/1:49,38:87:99:927,0,1161	20	0	1	0
chr12	119151112	119151112	G	A	exonic	SRRM4	.	nonsynonymous SNV	SRRM4:NM_194286:exon10:c.G1172A:p.R391H,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996	D	0.809	P	0.000	D	0.930	D	1.355	L	1.69	T	-1.042	T	0.086	T	0.378	4.441	23.6	3.81	1.563	2.569	10.686	0.075	0.0165482609243	0.0002	.	0.0008	0	8.648e-05	0	0.0012	0.0012	0.0022	6.058e-05	0.0006339	98	154602	rs200067083	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	0.0003	2.987e-05	2.236e-05	0	0	0.0008	0	0.0003	0.0004	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0002	0.0001	0.0002	0.0001	2.407e-05	0	0	0	0	0.0011	0	0.0003	0.0005	0	0.004	0.65419	D	0.199	0.27679	T	0.996	0.68779	D	0.809	0.58564	P	0.000123	0.49741	D	0.134965	0.929941	0.36942	D	1.995	0.54099	M	1.69	0.27032	T	-1.32	0.32991	N	0.228	0.25622	-1.0422	0.16651	T	0.086	0.33326	T	9	0.056542844	0.06356	T	0.016548	0.37860	T	0.075	0.21907	.	.	0.298745278005	0.29478	0.3401821737098668	0.33931	0.680023828954	0.59963	0.389644473791	0.23620	T	0.096869	0.39912	T	-0.37061	0.03563	T	-0.38312	0.35356	T	0.207510016133391	0.20822	T	0.70043	0.31009	T	0.10837073	0.25624	0.13605584	0.32559	0.10837073	0.25623	0.13605584	0.32558	-6.236	0.48213	T	.	.	0.100	0.17275	B	.	.	4.580273	0.72349	25.8	0.99950732588751501	0.99944	0.93329	0.57926	D	AEFBI	0.212902	0.33854	N	0.399055731986361	0.61371	4.337	0.408542257959706	0.62094	4.41943	0.992082496086729	0.32713	0.460665	0.09802	0	0.573888	0.26702	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	5.73	3.81	0.43020	2.960000	0.48853	3.678000	0.39458	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0716:0.1309:0.7974:0.0	10.686	0.45042	941	0.13089	.	.	.	.	.	.	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	1520.98	34	chr12	119151112	.	G	A	1520.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.086e+00;DP=835;ExcessHet=0.0000;FS=3.397;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=0.988;SOR=0.452	GT:AD:DP:GQ:PL	0/1:53,62:115:99:1535,0,1378	20	0	1	0
chr12	120214922	120214922	C	T	exonic	PXN	.	nonsynonymous SNV	PXN:NM_001243756:exon8:c.G1223A:p.R408Q	.	.	418	1070	34	0	0	34	0.0156394	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.48	T	0.638	P	0.112	B	.	.	1.000	D	-0.305	N	-2.25	D	-0.409	T	0.326	T	0.458	4.102	21.1	5.18	2.414	6.007	18.685	0.134	0.0797572520239	0.0016	0.000599042	0.0023	0.0003	0.0004	0	0.0032	0.0034	0	0.0009	0.0021216	328	154602	rs111674215	0.0019	0.0019	0.0020	0.0019	0.0224	0.0019	0.0019	0.0192	0.0180	0.0005	0.0012	0.0054	0.0002	0.0029	0.0224	0.0019	0.0030	0.0009	0.0016	0.0016	0.0013	0.0018	0.0020	0.0014	0.0013	0.0017	0.0016	0.0003	0	0.0012	0.0037	0.0004	0.0042	0.0068	0.0020	0.0019	0.0015	0.133	0.27544	T	0.271	0.23984	T	0.585	0.40359	P	0.105	0.31615	B	.	.	.	.	1	0.81001	D	-0.235	0.03917	N	-2.25	0.87272	D	-2.41	0.52938	N	0.525	0.61341	-0.4091	0.71739	T	0.326	0.69418	T	9	0.010912269	0.00241	T	0.079757	0.73308	D	0.399	0.71321	.	.	0.893840687942	0.89279	0.4575059753207088	0.45668	0.771881204982	0.64809	0.732327580452	0.71847	T	0.707445	0.91628	D	-0.245447	0.14661	T	-0.129335	0.61029	T	0.02653105194599	0.01479	T	0.858514	0.84742	D	0.26880148	0.49952	0.23454912	0.48674	0.26880148	0.49952	0.23454912	0.48673	-12.086	0.85897	D	.	.	0.335	0.55590	B	.;.;.;.;.;.	.;.;.;.;.;.	5.348436	0.89727	31	0.99892984177864352	0.96666	0.90481	0.51693	D	AEFDBCI	0.718958	0.66999	D	-0.043095108725219	0.39911	2.361425	0.164567877012949	0.47919	3.015019	0.999999999982393	0.74766	0.67177	0.52595	0	0.643519	0.57511	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.18	5.18	0.71140	6.085000	0.70992	7.640000	0.63152	0.577000	0.29297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.685	0.91521	437	0.80299	.;.;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	.	.	.	.	.	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	1827.98	33	chr12	120214922	.	C	T	1827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.45;DP=822;ExcessHet=0.0000;FS=4.170;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.85;ReadPosRankSum=1.10;SOR=1.045	GT:AD:DP:GQ:PL	0/1:65,67:132:99:1842,0,1590	20	0	1	0
chr12	121240525	121240525	-	TT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAA:p.G539Kfs*6,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:22,2,13,2,0,0:39:99:595,287,929,0,697,835,281,928,843,1136,351,990,884,1134,1192,351,990,884,1134,1192,1192	4	0	0	0
chr12	121240525	121240525	-	TTT	exonic	CAMKK2	.	nonframeshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAA:p.K538_G539insK,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:22,2,13,2,0,0:39:99:595,287,929,0,697,835,281,928,843,1136,351,990,884,1134,1192,351,990,884,1134,1192,1192	4	0	0	0
chr12	121240525	121240525	-	TTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAA:p.G539Kfs*4,	.	.	10	63	26	1	126	154	0.181818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:22,2,13,2,0,0:39:99:595,287,929,0,697,835,281,928,843,1136,351,990,884,1134,1192,351,990,884,1134,1192,1192	4	0	0	0
chr12	121240525	121240525	-	TTTTT	exonic	CAMKK2	.	frameshift insertion	CAMKK2:NM_001270486:exon16:c.1613_1614insAAAAA:p.G539Kfs*7,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	8445.03	54	chr12	121240524	.	CT	CTTT,CTTTT,CTTTTT,C,CTTTTTT	8445.03	.	AC=2,10,1,5,1;AF=0.048,0.238,0.024,0.119,0.024;AN=42;BaseQRankSum=-2.880e-01;DP=1301;ExcessHet=11.7413;FS=4.240;InbreedingCoeff=-0.4466;MLEAC=2,10,1,5,1;MLEAF=0.048,0.238,0.024,0.119,0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=0.156;SOR=1.006	GT:AD:DP:GQ:PL	0/2:22,2,13,2,0,0:39:99:595,287,929,0,697,835,281,928,843,1136,351,990,884,1134,1192,351,990,884,1134,1192,1192	4	0	0	0
chr12	123313662	123313662	T	C	exonic	SBNO1	.	nonsynonymous SNV	SBNO1:NM_001167856:exon24:c.A3178G:p.M1060V	.	.	429	1042	45	6	0	57	0.0266231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.001	B	0.002	B	0.000	D	0.856	D	-0.44	N	1.65	T	-1.034	T	0.015	T	0.417	0.916	8.730	5.54	2.116	0.958	7.636	0.137	.	0.0029	0.0159744	0.0109	0.0007	0.0062	0.0237	0.0011	0.0044	0.0152	0.0436	0.0096312	1489	154602	rs61760910	0.0062	0.0063	0.0051	0.0073	0.0388	0.0061	0.0060	0.0377	0.0372	0.0006	0.0063	0.0103	0.0222	0.0012	0.0182	0.0033	0.0074	0.0388	0.0050	0.0050	0.0043	0.0057	0.0396	0.0047	0.0046	0.0350	0.0332	0.0007	0	0.0084	0.0107	0.0212	0.0013	0.0068	0.0035	0.0071	0.0396	0.183	0.21718	T	0.169	0.30534	T	0.001	0.07471	B	0.002	0.06944	B	0.000002	0.62929	D	0.058316	0.856217	0.35307	D	-0.31	0.03598	N	1.65	0.27650	T	-0.66	0.19085	N	0.333	0.39254	-1.0340	0.19173	T	0.015	0.06234	T	10	0.0048089623	0.00102	T	.	.	.	0.137	0.36984	.	.	.	.	0.38444614813562367	0.38359	0.688503199129	0.60440	0.510839700699	0.40340	T	0.009356	0.08525	T	-0.512294	0.00487	T	-0.479375	0.24512	T	0.00408432732271108	0.00043	T	0.880312	0.59828	D	0.071064286	0.15703	0.12246162	0.29540	0.071064286	0.15703	0.12246162	0.29539	-4.076	0.24935	T	.	.	0.069	0.03093	B	.;.;.	.;.;.	2.591516	0.33622	19.39	0.90063825735817182	0.19349	0.92334	0.55472	D	AEFGBI	0.219016	0.34395	N	-0.347043841201191	0.27380	1.501804	-0.0900975112708858	0.35799	2.075433	0.0120214417839473	0.12269	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	0.715000	0.25493	2.800000	0.34847	-0.194000	0.09177	0.938000	0.32564	0.999000	0.35428	0.582000	0.30943	0.139:0.0:0.1451:0.7159	7.636	0.27435	458	0.78890	Strawberry notch, helicase C domain;.;Strawberry notch, helicase C domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.07143	3079.68	33	chr12	123313662	.	T	C	3079.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-6.800e-01;DP=866;ExcessHet=0.3300;FS=7.235;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=12.83;ReadPosRankSum=0.109;SOR=0.388	GT:AD:DP:GQ:PL	0/1:35,37:72:99:916,0,920	18	0	3	0
chr12	123917794	123917794	C	T	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon63:c.C10859T:p.T3620I	.	.	424	1070	28	0	0	28	0.0129151	.	.	713425	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.967	D	0.000	D	1.000	D	2.165	M	0.63	T	-0.496	T	0.235	T	0.9	4.736	26.4	5.07	2.372	7.731	18.449	0.468	0.0259080949994	0.0031	0.00199681	0.0063	0.0007	0.0058	0	0.0029	0.0092	0.0042	0.0042	0.0025291	391	154602	rs202063832	0.0040	0.0040	0.0040	0.0041	0.0105	0.0040	0.0039	0.0084	0.0076	0.0008	0.0021	0.0052	0	0.0050	0.0105	0.0042	0.0046	0.0046	0.0032	0.0031	0.0032	0.0031	0.0048	0.0029	0.0028	0.0044	0.0042	0.0009	0	0.0020	0.0052	0.0002	0.0030	0.0068	0.0048	0.0066	0.0037	.	.	.	.	.	.	0.999	0.77913	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.275	0.64647	M	.	.	.	.	.	.	.	.	-0.4957	0.68804	T	0.235	0.60136	T	10	0.0073304474	0.00167	T	0.025908	0.48854	D	0.468	0.76289	.	.	0.455816718377	0.45207	0.8171026773562577	0.81666	0.639922825261	0.57644	0.712756216526	0.68993	T	0.046452	0.27428	T	-0.0658117	0.41995	T	0.135024	0.79221	D	0.00860745491178928	0.00105	T	0.953405	0.82184	D	0.62834245	0.74210	0.56730133	0.74952	0.62834245	0.74211	0.56730133	0.74953	-9.628	0.71653	D	.	.	0.867	0.80682	P	.;.	.;.	4.076156	0.60605	24.2	0.99858410434815026	0.93729	0.96472	0.69308	D	AEFDBHCI	0.929618	0.91566	D	0.778864471843494	0.84767	8.380657	0.747256925603901	0.85951	8.736464	0.999999829888769	0.74766	0.516011	0.20929	0	0.573888	0.26702	0	0.577349	0.28860	0	0.542086	0.14980	0	.	.	5.07	5.07	0.68106	7.818000	0.84740	7.592000	0.61280	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	18.449	0.90643	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	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	1840.98	38	chr12	123917794	.	C	T	1840.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=866;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-5.870e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:81,72:153:99:1855,0,1992	20	0	1	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	0/2:34,0,29,0,0:64:99:1002,1134,2500,0,1311,1230,1134,2500,1311,2500,1134,2500,1311,2500,2500	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	0/2:34,0,29,0,0:64:99:1002,1134,2500,0,1311,1230,1134,2500,1311,2500,1134,2500,1311,2500,2500	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	0/2:34,0,29,0,0:64:99:1002,1134,2500,0,1311,1230,1134,2500,1311,2500,1134,2500,1311,2500,2500	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	0/2:34,0,29,0,0:64:99:1002,1134,2500,0,1311,1230,1134,2500,1311,2500,1134,2500,1311,2500,2500	0	1	2	0
chr12	131849915	131849915	A	G	exonic	MMP17	.	nonsynonymous SNV	MMP17:NM_016155:exon9:c.A1318G:p.N440D,	.	.	427	1083	12	0	0	12	0.00550964	.	.	724989	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.28	T	0.886	P	0.68	P	0.000	D	1.000	D	1.805	L	3.24	T	-1.141	T	0.051	T	0.11	4.348	22.9	3.44	0.626	5.286	8.326	0.143	.	0.0072	0.0061901	0.0049	0.0107	0.0048	0	0.0023	0.0058	0.0089	0.0015	0.0049611	767	154602	rs139162290	0.0045	0.0045	0.0047	0.0044	0.0175	0.0044	0.0044	0.0147	0.0137	0.0105	0.0054	0.0078	2.519e-05	0.0027	0.0175	0.0045	0.0069	0.0014	0.0066	0.0066	0.0070	0.0063	0.0105	0.0063	0.0062	0.0093	0.0090	0.0101	0.0570	0.0105	0.0072	0	0.0028	0.0068	0.0043	0.0114	0.0008	0.248	0.48642	T	0.035	0.52389	D	0.886	0.48745	P	0.68	0.53472	P	0.000000	0.84330	D	0.000000	0.999398	0.81001	D	1.505	0.38159	L	2.16	0.19166	T	-4.07	0.78388	D	0.38	0.42541	-1.1411	0.01318	T	0.051	0.21650	T	10	0.00799194	0.00181	T	.	.	.	0.143	0.38195	.	.	0.450539155747	0.44678	0.7420346890705607	0.74149	0.269835438501	0.29508	0.504001259804	0.39385	T	0.165505	0.51138	T	-0.546058	0.00308	T	-0.547756	0.17541	T	0.0944945066890397	0.11740	T	0.849215	0.53152	T	0.5497218	0.69940	0.47569257	0.69618	0.5497218	0.69941	0.47569257	0.69618	-12.48	0.88103	D	.	.	0.113	0.40015	B	.;.;.;.	.;.;.;.	3.288126	0.45079	22.1	0.99633114491927033	0.76142	0.97061	0.72463	D	AEFDBI	0.721766	0.67191	D	0.280012812324219	0.55137	3.677929	0.266853700865674	0.53614	3.529511	0.926956279998203	0.26870	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.6	3.44	0.38486	6.145000	0.71533	4.335000	0.43039	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8367:0.0:0.1633:0.0	8.326	0.31317	982	0.03397	Hemopexin-like domain;.;Hemopexin-like domain;Hemopexin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	2354.98	33	chr12	131849915	.	A	G	2354.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.663;DP=916;ExcessHet=0.0000;FS=1.067;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.21;ReadPosRankSum=0.441;SOR=0.593	GT:AD:DP:GQ:PL	0/1:108,102:210:99:2369,0,2476	20	0	1	0
chr12	132848685	132848685	C	T	exonic	CHFR	.	nonsynonymous SNV	CHFR:NM_001161347:exon11:c.G1292A:p.G431D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	2.34	M	1.69	T	-0.815	T	0.190	T	0.944	5.647	36	5.8	2.744	7.463	20.071	0.575	0.0347507386948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.02	0.86243	M	1.69	0.27032	T	-4.72	0.79998	D	0.886	0.94314	-0.8145	0.54275	T	0.190	0.54138	T	10	0.8588568	0.85096	D	0.034751	0.55884	D	0.575	0.82799	0.67	0.80803	0.627862309637	0.62483	0.7843023730274129	0.78381	1.31115989583	0.83227	0.712166905403	0.68908	T	0.624616	0.88284	D	0.276332	0.80999	D	0.159155	0.80755	D	0.990882396697998	0.81122	D	0.944006	0.78847	D	0.8504784	0.87371	0.8724631	0.93036	0.8504784	0.87372	0.8724631	0.93037	-12.058	0.89886	D	.	.	0.623	0.72197	P	.;.;.;.	.;.;.;.	5.203812	0.87303	29.2	0.99866333771931048	0.94457	0.98966	0.89286	D	AEFDBHI	0.936395	0.93265	D	0.866066769734314	0.90002	10.21055	0.856776662270337	0.93405	12.02134	0.999999999999927	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.26897	0.05253	2	0.711	0.71501	0	.	.	5.8	5.8	0.92081	7.378000	0.78957	7.571000	0.60712	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:1.0:0.0:0.0	20.071	0.97721	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	0.02381	1378.98	36	chr12	132848685	.	C	T	1378.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.000e-03;DP=820;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.79;ReadPosRankSum=0.407;SOR=0.763	GT:AD:DP:GQ:PL	0/1:62,55:117:99:1393,0,1616	20	0	1	0
chr13	19837799	19837799	T	G	exonic	ZMYM5	.	nonsynonymous SNV	ZMYM5:NM_001039650:exon6:c.A895C:p.N299H	.	.	461	1034	26	1	0	28	0.0133588	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.887	P	0.492	P	0.001	D	1.000	N	.	.	2.31	T	-1.045	T	0.025	T	0.085	0.566	7.061	-9.5	-3.177	0.174	3.329	0.082	.	0.0006	0.00399361	0.0025	0	0.0020	0	0	0.0010	0.0044	0.0127	0.0022315	345	154602	rs144354836	0.0012	0.0013	0.0008	0.0016	0.0128	0.0012	0.0012	0.0122	0.0119	9.402e-05	0.0013	0.0042	2.547e-05	1.876e-05	0.0061	0.0004	0.0020	0.0128	0.0009	0.0009	0.0009	0.0008	0.0122	0.0007	0.0007	0.0097	0.0088	9.619e-05	0.0022	0.0009	0.0046	0	0	0.0034	0.0005	0.0009	0.0122	0.013	0.65419	D	0.006	0.70582	D	0.887	0.48784	P	0.492	0.47401	P	0.000714	0.42254	D	0.265534	0.999989	0.54805	D	.	.	.	2.31	0.22474	T	-1.59	0.42575	N	0.193	0.21188	-1.0447	0.15913	T	0.025	0.10509	T	9	0.004525453	0.00093	T	.	.	.	0.082	0.23913	.	.	0.0297737177859	0.01360	0.08321538671832751	0.08255	0.0238801452212	0.02421	0.238329708576	0.02642	T	0.003669	0.21243	T	-0.621564	0.00108	T	-0.654579	0.08636	T	0.0473125616729332	0.05021	T	0.370263	0.08727	T	0.046684273	0.07854	0.027656168	0.00936	0.046684273	0.07854	0.027656168	0.00936	-6.003	0.46305	T	.	.	0.086	0.10594	B	.;.;.	.;.;.	0.105731	0.05063	1.604	0.87662850994616004	0.17390	0.20679	0.21129	N	AEFBI	0.036843	0.04973	N	-1.44914776504721	0.02223	0.09795081	-1.66937787858956	0.01279	0.05767558	0.9999909664443	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.75	-9.5	0.00492	0.092000	0.14905	-5.274000	0.01780	-0.695000	0.04090	0.070000	0.22072	0.000000	0.08366	0.000000	0.00833	0.1719:0.3628:0.088:0.3773	3.329	0.06664	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	0.04762	1652.11	39	chr13	19837799	.	T	G	1652.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.07;DP=878;ExcessHet=0.1072;FS=2.099;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.39;ReadPosRankSum=-5.690e-01;SOR=0.532	GT:AD:DP:GQ:PL	0/1:49,25:74:99:578,0,1295	19	0	2	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	1/2:5,24,20,0:49:99:1126,386,374,435,0,556,1059,500,597,1168	1	1	4	0
chr13	24435203	24435203	G	C	exonic	PARP4	.	nonsynonymous SNV	PARP4:NM_006437:exon31:c.C3938G:p.S1313C,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.001	B	0.002	B	0.057	U	1.000	N	0.695	N	4.55	T	-0.925	T	0.006	T	0.145	0.415	6.256	-2.1	-0.855	-0.102	1.839	0.008	0.00120556409172	.	0.000199681	0.0001	0	0	0.0017	0	0	0	0	0.0001035	16	154602	rs199938923	2.463e-05	2.463e-05	2.859e-05	2.063e-05	0.0009	1.803e-05	1.6e-05	0.0007	0.0006	0	0	0	0.0009	0	0	0	0	0	3.283e-05	3.281e-05	3.854e-05	2.685e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	6.536e-05	0	0.0008	0	0	0	0	0	0.015	0.52492	D	0.074	0.42976	T	0.001	0.07471	B	0.002	0.06944	B	0.056778	0.02090	U	2.743820	1	0.08975	N	0.805	0.20218	L	4.55	0.01948	T	-0.97	0.25770	N	0.093	0.07262	-0.9248	0.44886	T	0.006	0.01944	T	10	0.013735741	0.00290	T	0.001206	0.01558	T	0.008	0.00669	.	.	0.32471235697	0.32085	0.22205692543532926	0.22120	0.111870884816	0.12619	0.299637198448	0.10347	T	0.049157	0.28226	T	-0.601924	0.00142	T	-0.667478	0.07771	T	0.00785539519252016	0.00092	T	0.479552	0.14466	T	0.06151581	0.12748	0.03181002	0.01823	0.06151581	0.12747	0.03181002	0.01823	-5.786	0.44452	T	.	.	0.089	0.12084	B	.	.	1.156938	0.15458	11.86	0.8634204486079915	0.16472	0.01583	0.05155	N	AEFBI	0.052277	0.09315	N	-1.25610898679327	0.04220	0.1900212	-1.35697832862545	0.03724	0.1743118	1.949086229193E-4	0.05898	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.47	-2.1	0.06809	-0.201000	0.09466	-0.051000	0.12545	0.342000	0.19800	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.1323:0.3708:0.3071:0.1898	1.839	0.02954	863	0.32847	.	.	.	.	.	.	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	746.98	52	chr13	24435203	.	G	C	746.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.25;DP=1013;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.79;ReadPosRankSum=-6.500e-01;SOR=0.597	GT:AD:DP:GQ:PL	0/1:57,28:85:99:761,0,1521	20	0	1	0
chr13	25253869	25253869	G	T	exonic	MTMR6	.	nonsynonymous SNV	MTMR6:NM_001385232:exon10:c.C1115A:p.A372D	.	.	423	1094	5	0	0	5	0.00227998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.897	P	0.427	B	0.000	N	1.000	D	2.64	M	-2.82	D	-0.518	T	0.114	T	0.628	4.225	22.0	4.1	0.782	5.604	15.306	0.690	.	0.0006	0.0233626	0.0097	0.0005	0.0045	0.0837	0.0015	0.0016	0.0044	0.0164	0.0090555	1400	154602	rs79053319	0.0042	0.0042	0.0039	0.0046	0.0812	0.0041	0.0041	0.0789	0.0779	0.0001	0.0032	0.0057	0.0812	0.0017	0.0029	0.0007	0.0055	0.0170	0.0049	0.0050	0.0040	0.0060	0.0929	0.0046	0.0045	0.0861	0.0834	0.0003	0.0175	0.0019	0.0055	0.0929	0.0012	0	0.0009	0.0033	0.0228	0.063	0.36709	T	0.039	0.51112	D	0.834	0.46206	P	0.176	0.35644	B	0.000004	0.62929	N	0.139939	1	0.81001	D	3.57	0.93460	H	-2.82	0.91192	D	-4.34	0.76822	D	0.542	0.56919	-0.5180	0.67989	T	0.114	0.40513	T	10	0.011748701	0.00255	T	.	.	.	0.690	0.88726	.	.	0.974489703242	0.97421	0.8685922447097401	0.86824	0.19274520419	0.21601	0.67719066143	0.63866	T	0.680092	0.90597	D	-0.153391	0.27781	T	0.079846	0.75568	D	0.0946518568234797	0.11758	T	0.882712	0.60367	D	0.8910354	0.90596	0.8159179	0.89278	0.8910354	0.90597	0.8159179	0.89278	-10.566	0.77225	D	.	.	0.424	0.60884	A	.	.	3.276774	0.44877	22.0	0.9976261574648998	0.85172	0.92333	0.55470	D	ALL	0.647969	0.62296	D	0.424481151106037	0.62770	4.498695	0.43719403578283	0.63899	4.633097	0.999999999634843	0.74766	0.719381	0.83141	0	0.724815	0.89359	0	0.658983	0.55881	0	0.733575	0.97253	0	.	.	5.86	4.1	0.47196	5.718000	0.68103	3.830000	0.39991	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.7441:0.2559	15.306	0.73701	819	0.41190	Myotubularin-like phosphatase domain|Myotubularin-like phosphatase domain|Protein-tyrosine phosphatase, catalytic	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1411.98	34	chr13	25253869	.	G	T	1411.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.584e+00;DP=805;ExcessHet=0.0000;FS=0.693;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=0.087;SOR=0.593	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1426,0,1379	20	0	1	0
chr13	26681265	26681265	C	G	exonic	WASF3	.	nonsynonymous SNV	WASF3:NM_001291965:exon8:c.C919G:p.P307A	.	.	414	1101	6	1	0	8	0.00361991	.	.	702645	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.17	T	0.156	B	0.056	B	0.004	N	1.000	D	1.155	L	0.34	T	-1.019	T	0.110	T	0.381	1.621	11.38	6.07	2.885	5.468	20.645	0.125	0.0296180166556	0.0043	0.00119808	0.0039	0.0009	0.0040	0	0.0024	0.0056	0.0034	0.0010	0.003758	581	154602	rs151322145	0.0057	0.0057	0.0058	0.0057	0.0069	0.0056	0.0056	0.0067	0.0067	0.0010	0.0029	0.0023	0	0.0020	0.0012	0.0069	0.0048	0.0013	0.0034	0.0034	0.0036	0.0032	0.0061	0.0031	0.0030	0.0057	0.0055	0.0010	0	0.0015	0.0014	0	0.0010	0.0034	0.0061	0.0038	0.0019	0.142	0.25457	T	0.278	0.26969	T	0.156	0.28196	B	0.056	0.26147	B	0.003773	0.34511	N	0.310059	0.99957	0.47641	D	0.945	0.23706	L	0.34	0.58176	T	-1.11	0.36980	N	0.544	0.57092	-1.0190	0.24041	T	0.110	0.39723	T	10	0.007344365	0.00167	T	0.029618	0.52093	D	0.125	0.34456	.	.	0.138757226776	0.13463	0.18370489741777404	0.18289	0.840410351682	0.68033	0.600477933884	0.52972	T	0.071715	0.34276	T	-0.383269	0.02971	T	-0.320009	0.42573	T	0.0257074613894093	0.01366	T	0.836716	0.51465	T	0.04235307	0.06407	0.064666845	0.12995	0.04235307	0.06407	0.064666845	0.12995	-5.81	0.44661	T	.	.	0.054	0.00658	B	.;.	.;.	1.448438	0.18688	13.87	0.90098016147171578	0.19381	0.99058	0.90610	D	AEFDBI	0.332620	0.43197	N	-0.112290169804088	0.36858	2.136181	0.0049155931279314	0.39942	2.376022	0.999999999999382	0.74766	0.706548	0.73137	0	0.59043	0.45803	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	6.07	6.07	0.98675	5.543000	0.66933	3.894000	0.40311	0.599000	0.40250	0.989000	0.36753	0.998000	0.33993	0.045000	0.14751	0.0:1.0:0.0:0.0	20.645	0.99594	928	0.17405	.;.	.	.	.	.	.	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	1475.11	33	chr13	26681265	.	C	G	1475.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.04;DP=774;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.41;ReadPosRankSum=-4.400e-02;SOR=0.654	GT:AD:DP:GQ:PL	0/1:12,28:40:99:841,0,292	19	0	2	0
chr13	28048407	28048407	T	A	exonic	FLT3	.	nonsynonymous SNV	FLT3:NM_004119:exon9:c.A1073T:p.D358V,	Leukemia, acute lymphoblastic, somatic;Leukemia, acute myeloid, reduced survival in, somatic;Leukemia, acute myeloid, somatic	.	3	1518	1	0	0	1	0.000329272	.	.	138191	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.29	T	0.451	B	0.328	B	0.006	N	1.000	D	0.695	N	-0.86	T	-0.718	T	0.140	T	0.629	3.007	16.03	5.45	2.079	2.524	14.087	0.331	.	7.7e-05	0.00499201	0.0018	0	0	0.0234	0	0.0002	0.0011	0.0002	0.0016494	255	154602	rs34172843	0.0006	0.0006	0.0006	0.0006	0.0168	0.0006	0.0006	0.0157	0.0153	0	0	0.0040	0.0168	0	0.0002	3.066e-05	0.0009	0.0003	0.0008	0.0008	0.0007	0.0010	0.0210	0.0007	0.0007	0.0178	0.0166	0	0	0	0.0040	0.0210	0	0	1.47e-05	0.0005	0.0002	0.066	0.36113	T	0.133	0.34359	T	0.451	0.36091	B	0.104	0.31021	B	0.005974	0.32369	N	0.265038	0.999987	0.54805	D	1.59	0.40313	L	-1.07	0.76948	T	-1.13	0.29114	N	0.343	0.38438	-0.7178	0.59570	T	0.140	0.45828	T	10	0.009637773	0.00217	T	.	.	.	0.331	0.65325	.	.	0.757773675851	0.75557	0.6663777962670747	0.66575	0.245332560828	0.27063	0.364703774452	0.20068	T	0.255444	0.62623	T	-0.266926	0.12101	T	-0.138612	0.60238	T	0.0361865102643875	0.03013	T	0.738226	0.35599	T	0.34142992	0.56393	0.300904	0.56124	0.34142992	0.56394	0.300904	0.56123	-1.748	0.02358	T	.	.	0.089	0.12371	B	.	.	2.804157	0.36894	20.4	0.98891031281290698	0.48001	0.79139	0.39160	D	AEFGBCI	0.516512	0.54301	D	-0.0141832604376227	0.41214	2.461182	0.141388742531779	0.46689	2.91074	0.999999996712345	0.74766	0.554377	0.28877	0	0.587068	0.34093	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	5.45	5.45	0.79688	2.517000	0.45189	4.076000	0.41702	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	14.087	0.64490	899	0.25060	.	.	.	.	.	.	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	1409.98	36	chr13	28048407	.	T	A	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.764;DP=856;ExcessHet=0.0000;FS=2.149;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=0.923;SOR=0.891	GT:AD:DP:GQ:PL	0/1:80,59:139:99:1424,0,1980	20	0	1	0
chr13	30713841	30713841	-	GT	exonic	ALOX5AP	.	frameshift insertion	ALOX5AP:NM_001204406:exon1:c.116_117insGT:p.A40Wfs*25,	.	.	585	586	0	0	351	351	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0171	0.0263	0.0167	0.01	.	0.0067	0.0147	0.0200	0.225603	5872	26028	rs369636483	0.0003	0.0037	0.0003	0.0003	0.0035	0.0003	0.0003	0.0030	0.0028	0.0035	0.0014	0.0004	0.0007	9.077e-05	0.0007	0.0001	0.0004	0.0012	7.233e-05	0.0001	7.041e-05	7.436e-05	0.0001	3.094e-05	2.103e-05	5.452e-05	3.56e-05	0.0001	0	0	0	0	0	0	3.702e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	8628.76	35	chr13	30713841	.	G	GGT,GGTGT	8628.76	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.564;DP=1049;ExcessHet=0.5418;FS=1.813;InbreedingCoeff=0.0735;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=18.68;ReadPosRankSum=0.256;SOR=0.848	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:35,0,27:62:99:0|1:30713841_G_GGTGT:1029,1135,2575,0,1440,1358:30713841	14	0	0	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	0/1:96,57:153:99:.:.:494,0,1982	0	0	20	1
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	T	0.971	D	0.825	P	0.910	N	0.739	N	2.18	M	0.83	T	-0.884	T	0.220	T	0.154	2.402	13.99	3.16	0.775	0.044	7.319	0.157	0.00928738655635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0043	0.0006	0.0006	0.0007	0.0006	0.0006	0.0006	0.0006	0.0006	7.169e-05	0.0003	0.0003	0.0002	0.0004	0.0007	0.0007	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.15201	T	0.359	0.17014	T	0.971	0.57185	D	0.825	0.59331	P	0.910049	0.07409	N	1.036210	0.738816	0.29756	N	2.25	0.63811	M	0.83	0.47815	T	-2.17	0.49018	N	0.299	0.33796	-0.8840	0.49440	T	0.220	0.58306	T	10	0.24265513	0.41465	T	0.009287	0.24389	T	0.157	0.40909	0.474	0.55020	0.818736002665	0.81702	0.4195385722957138	0.41869	0.292299643335	0.31640	0.676025271416	0.63699	T	0.177767	0.52817	T	-0.182115	0.23422	T	-0.499372	0.22412	T	0.931297183036804	0.59657	D	0.823718	0.48487	T	0.077003986	0.17449	0.085702814	0.19806	0.077003986	0.17449	0.085702814	0.19805	-6.791	0.52492	T	.	.	0.387	0.58814	A	.	.	2.668832	0.34787	19.72	0.99757066602325661	0.84772	0.28433	0.23553	N	AEFGBI	0.095724	0.19336	N	0.133333906900528	0.48022	3.020043	0.0518211482771647	0.42159	2.545258	0.975820955919572	0.29668	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	3.16	0.35406	0.142000	0.15917	0.534000	0.19274	0.599000	0.40250	0.161000	0.23811	0.997000	0.33255	0.999000	0.91618	0.0:0.8028:0.0:0.1972	7.319	0.25689	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved 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	0.09375	275.26	20	chr13	44965897	.	C	G	275.26	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-8.290e-01;DP=490;ExcessHet=0.3300;FS=224.614;InbreedingCoeff=-0.1660;MLEAC=4;MLEAF=0.125;MQ=60.00;MQRankSum=0.00;QD=1.76;ReadPosRankSum=0.00;SOR=7.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:20,8:28:99:0|1:44965896_A_G:133,0,559:44965896	13	0	3	5
chr13	48459808	48459808	T	C	exonic	RB1	.	nonsynonymous SNV	RB1:NM_000321:exon20:c.T2081C:p.L694P,	Bladder cancer, somatic;Osteosarcoma, somatic;Retinoblastoma, Autosomal dominant, Somatic mutation;Retinoblastoma, trilateral, Autosomal dominant, Somatic mutation;Small cell cancer of the lung, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	3.42	M	-3.77	D	1.097	D	0.943	D	0.995	4.463	23.8	5.48	2.086	7.698	15.564	0.976	0.602785562062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	5.093e-05	2.774e-06	0	1.836e-06	2.3e-07	9e-08	3.1e-07	1.1e-07	0	0	0	0	0	0	1.836e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	1	0.81001	D	3.345	0.91022	M	-3.77	0.95595	D	-6.07	0.89871	D	0.984	0.99337	1.097	0.99525	D	0.943	0.98136	D	10	0.9566928	0.95037	D	0.602786	0.96508	D	0.976	0.99783	0.78	0.90465	0.995699770876	0.99565	0.980477162488264	0.98038	1.68776258327	0.90085	0.897795319557	0.96192	D	0.975174	0.99754	D	0.560843	0.96253	D	0.567835	0.96194	D	0.999335587024689	0.97004	D	0.909909	0.68110	D	0.9948388	0.99958	0.97334516	0.99602	0.9948388	0.99958	0.97334516	0.99602	-13.406	0.90966	D	0.9398642061341252	0.97687	0.998	0.97486	P	.;.	.;.	5.226627	0.87722	29.3	0.99926600234762908	0.99103	0.97876	0.77794	D	AEFBI	0.964519	0.98666	D	0.915122981473785	0.92480	11.44748	0.844938188139194	0.92718	11.58983	0.999996381698106	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.48	5.48	0.80675	7.674000	0.83146	7.932000	0.75071	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.0:1.0	15.564	0.76018	726	0.54788	Retinoblastoma-associated protein, B-box|Cyclin-like|Cyclin-like;.	.	.	.	.	.	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	0.2619	1269.87	115	chr13	48459808	.	T	C	1269.87	.	AC=11;AF=0.262;AN=42;BaseQRankSum=-3.482e+00;DP=2175;ExcessHet=7.7275;FS=135.304;InbreedingCoeff=-0.3657;MLEAC=11;MLEAF=0.262;MQ=60.00;MQRankSum=0.00;QD=0.91;ReadPosRankSum=0.896;SOR=12.258	GT:AD:DP:GQ:PL	0/1:84,28:112:71:71,0,1318	10	0	11	0
chr13	71866535	71866535	-	GCCGCC	exonic	DACH1	.	nonframeshift insertion	DACH1:NM_001366712:exon1:c.234_235insGGCGGC:p.G81_S82insGG	.	.	6	167	15	3	35	56	0.0591549	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	3245.31	39	chr13	71866526	.	TGCCGCCGCC	T,TGCCGCCGCCGCCGCC	3245.31	.	AC=2,5;AF=0.048,0.119;AN=42;BaseQRankSum=0.433;DP=629;ExcessHet=0.2785;FS=2.709;InbreedingCoeff=0.1429;MLEAC=2,5;MLEAF=0.048,0.119;MQ=60.00;MQRankSum=0.00;QD=18.65;ReadPosRankSum=0.142;SOR=0.924	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:22,0,15:37:99:.:.:557,623,1527,0,904,859	15	0	2	0
chr13	71866566	71866566	-	GCC	exonic	DACH1	.	nonframeshift insertion	DACH1:NM_001366712:exon1:c.203_204insGGC:p.A68_T69insA	.	.	227	1293	2	0	0	2	0.000772798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0054	0.00399361	0.0083	0.0435	0.0196	0	0	0.0006	0	0	0.000608	94	154602	rs538753327	0.0006	0.0006	0.0007	0.0006	0.0221	0.0006	0.0006	0.0205	0.0199	0.0221	0.0024	0	0.0001	0	0.0009	0.0001	0.0015	4.695e-05	0.0071	0.0072	0.0074	0.0068	0.0248	0.0068	0.0066	0.0235	0.0230	0.0248	0.0011	0.0017	0	0	0	0.0035	0.0002	0.0063	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	807.94	42	chr13	71866566	.	G	GGCC	807.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.477e+00;DP=686;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.44;ReadPosRankSum=-2.090e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/1:15,21:36:99:822,0,567	20	0	1	0
chr13	98825922	98825922	G	A	exonic	DOCK9	.	nonsynonymous SNV	DOCK9:NM_001366681:exon45:c.C5042T:p.P1681L	.	.	.	.	.	.	.	.	.	.	.	2236499	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.000	N	1.000	N	0.14	N	2.54	T	-1.016	T	0.037	T	0.301	-0.056	3.730	0.278	0.117	0.700	3.074	0.041	0.0161613074226	8.4e-05	0.000599042	0.0003	0	0	0.0004	0	0.0004	0	0.0001	0.0001035	16	154602	rs62637595	8.79e-05	9.645e-05	8.771e-05	8.809e-05	0.0004	7.525e-05	6.952e-05	6.232e-05	2.573e-05	3.197e-05	2.613e-05	0.0030	2.801e-05	0	0.0004	2.779e-05	0.0002	1.331e-05	0.0001	0.0001	0.0001	0.0001	0.0004	7.086e-05	5.743e-05	6.837e-05	2.861e-05	2.406e-05	0	0	0.0023	0.0004	0	0	5.88e-05	0.0009	0	0.135	0.26192	T	0.315	0.19421	T	0.0	0.02946	B	0.0	0.01387	B	0.000307	0.00561	N	3.576190	0.999659	0.21009	N	.	.	.	2.45	0.15028	T	-0.86	0.23372	N	0.136	0.15609	-1.0162	0.24948	T	0.037	0.16029	T	10	0.0075272024	0.00171	T	0.016161	0.37278	T	0.041	0.10877	.	.	0.200294437569	0.19612	0.279444819643929	0.27857	0.309117059296	0.33229	0.31470939517	0.12620	T	.	.	.	-0.394243	0.02525	T	-0.607108	0.12221	T	0.0207726716374445	0.00777	T	0.727827	0.34232	T	.	.	.	.	.	.	.	.	-2.719	0.07464	T	.	.	0.081	0.08176	B	.;.	.;.	0.736300	0.11056	7.709	0.63100312726761887	0.07134	0.06362	0.12362	N	AEFDBHCI	0.031080	0.03251	N	-0.705280253398964	0.15872	0.8038222	-0.803400926539919	0.14413	0.7529659	0.999940969621926	0.47345	0.489673	0.17934	0	0.573888	0.26702	0	0.584781	0.30282	0	0.662433	0.64102	0	.	.	4.88	0.278	0.14925	0.725000	0.25638	1.344000	0.25758	0.618000	0.50648	0.012000	0.18695	0.764000	0.26647	0.037000	0.13953	0.3862:0.0:0.426:0.1877	3.074	0.05864	958	0.09170	.;Dedicator of cytokinesis, C-terminal|DHR-2 domain	.	.	.	.	.	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	1060.98	33	chr13	98825922	.	G	A	1060.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.647;DP=783;ExcessHet=0.0000;FS=1.787;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.78;ReadPosRankSum=-3.550e-01;SOR=0.855	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1075,0,1019	20	0	1	0
chr13	99970416	99970416	-	GGC	exonic	ZIC5	.	nonframeshift insertion	ZIC5:NM_033132:exon1:c.1259_1260insGCC:p.P424_A425insP,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs772098205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	10227.81	36	chr13	99970413	.	TGGC	T,TGGCGGC	10227.81	.	AC=11,3;AF=0.262,0.071;AN=42;BaseQRankSum=0.619;DP=1251;ExcessHet=2.0984;FS=0.000;InbreedingCoeff=-0.0714;MLEAC=11,3;MLEAF=0.262,0.071;MQ=60.00;MQRankSum=0.00;QD=21.22;ReadPosRankSum=0.351;SOR=0.664	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:14,35,0:49:99:.:.:1386,0,452,1428,558,1987	9	2	7	0
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	0/1:140,37:190:19:19,0,3464	8	0	10	3
chr13	110456942	110456942	-	ATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	exonic	COL4A2-AS2	.	nonframeshift insertion	COL4A2-AS2:NM_001267044:exon5:c.782_783insCGGCATCAGCCCCACGGACGCCTGGGGTCCCACGCAGAT:p.Q261delinsHGISPTDAWGPTQM,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.675e-05	1.751e-05	4.763e-05	4.61e-05	6.815e-05	2.14e-05	1.547e-05	2.59e-05	1.645e-05	0	6.655e-05	0	0	0	0	6.815e-05	0	3.383e-05	0.0016	0.0016	0.0018	0.0013	0.0021	0.0013	0.0012	0.0016	0.0015	0.0012	0	0.0008	0.0017	0.0005	0.0012	0	0.0021	0.0015	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	4291.37	62	chr13	110456942	.	C	G,CATCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCG	4291.37	.	AC=8,1;AF=0.444,0.056;AN=18;BaseQRankSum=2.30;DP=1158;ExcessHet=7.4688;FS=8.528;InbreedingCoeff=-0.4044;MLEAC=13,2;MLEAF=0.722,0.111;MQ=48.92;MQRankSum=2.86;QD=7.68;ReadPosRankSum=-4.184e+00;SOR=1.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,15,0:41:99:0|1:110456942_C_G:527,0,1025,605,1070,1675:110456942	0	0	8	12
chr13	112547532	112547547	ACGTGCATGGGAAAGT	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	22922.08	213	chr13	112547532	.	ACGTGCATGGGAAAGT	A,*	22922.08	.	AC=6,1;AF=0.143,0.024;AN=42;BaseQRankSum=0.389;DP=2588;ExcessHet=2.5830;FS=1.106;InbreedingCoeff=-0.2000;MLEAC=6,1;MLEAF=0.143,0.024;MQ=59.97;MQRankSum=0.00;QD=14.52;ReadPosRankSum=0.139;SOR=0.783	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,99,0:203:99:0|1:112547505_C_T:3688,0,3897,4001,4195,8196:112547505	14	0	6	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	1|4:0,51,0,0,98,0:149:99:1|0:112547505_C_T:6007,3890,3808,6149,4054,7000,6149,4054,7000,7000,2144,0,3087,3087,3610,6149,4054,7000,7000,3087,7000:112547505	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	1|4:0,51,0,0,98,0:149:99:1|0:112547505_C_T:6007,3890,3808,6149,4054,7000,6149,4054,7000,7000,2144,0,3087,3087,3610,6149,4054,7000,7000,3087,7000:112547505	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	1|4:0,51,0,0,98,0:149:99:1|0:112547505_C_T:6007,3890,3808,6149,4054,7000,6149,4054,7000,7000,2144,0,3087,3087,3610,6149,4054,7000,7000,3087,7000:112547505	7	0	5	0
chr13	112547565	112547565	C	0	exonic	TUBGCP3	.	.	.	.	.	443	851	116	13	99	241	0.0770065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	24873.61	185	chr13	112547565	.	C	T,*	24873.61	.	AC=7,1;AF=0.167,0.024;AN=42;BaseQRankSum=0.983;DP=2360;ExcessHet=3.5521;FS=1.103;InbreedingCoeff=-0.2353;MLEAC=7,1;MLEAF=0.167,0.024;MQ=59.97;MQRankSum=0.00;QD=16.56;ReadPosRankSum=-7.970e-01;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:65,91,0:156:99:0|1:112547505_C_T:3439,0,2412,3635,2686,6320:112547505	13	0	7	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	0/1:53,6,0:59:46:.:.:46,0,1535,203,1553,1756	4	5	6	3
chr14	19433935	19433935	G	C	exonic	POTEG	.	nonsynonymous SNV	POTEG:NM_001005356:exon1:c.C355G:p.P119A,	.	.	364	1154	4	0	0	4	0.0017301	.	.	2214072	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0	B	0.0	B	.	.	1.000	N	-1.01	N	1.87	T	-0.960	T	0.017	T	0.178	-3.074	0.001	-0.649	-0.165	-1.331	.	0.023	0.00209131657376	.	.	2.808e-05	0	0	0	0	0	0	0.0002	3.84e-05	1	26028	rs759900307	0.0006	0.0075	0.0007	0.0006	0.0009	0.0006	0.0006	0.0007	0.0007	0.0002	0.0009	0.0002	2.519e-05	0.0001	0.0003	0.0007	0.0007	8.126e-05	0.0009	0.0055	0.0009	0.0009	0.0018	0.0008	0.0007	0.0013	0.0011	0.0002	0	0.0018	0.0003	0	0.0003	0	0.0014	0.0014	0	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.91	0.23283	T	1.83	0.00495	N	0.056	0.02759	-0.9602	0.39143	T	0.017	0.06902	T	7	0.0172081	0.00366	T	0.002091	0.03855	T	.	.	0.375	0.38830	0.0675242888579	0.06100	0.009413011583946312	0.00904	.	.	0.402597218752	0.25430	T	0.01107	0.09921	T	-0.464189	0.00925	T	-0.706235	0.05491	T	0.0358295521419214	0.02951	T	0.461354	0.13375	T	0.025153803	0.01421	0.076945715	0.17094	0.025153803	0.01421	0.076945715	0.17094	-2.035	0.03315	T	.	.	0.049	0.00114	B	.	.	-1.448834	0.00327	0.006	0.16372977981777795	0.00436	0.00021	0.00226	N	AEFI	0.012668	0.00144	N	-1.77491957106947	0.00609	0.02626729	-1.80291681385014	0.00750	0.03342532	1.17460808258681E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.713	-0.649	0.10885	-1.647000	0.02098	-6.553000	0.01367	-0.769000	0.03460	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	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	0.02381	151.98	1021	chr14	19433935	.	G	C	151.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.63;DP=18280;ExcessHet=0.0000;FS=0.908;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=40.95;MQRankSum=-1.511e+00;QD=0.08;ReadPosRankSum=-4.280e-01;SOR=0.929	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1673,183:1856:99:0|1:19433935_G_C:166,0,53868:19433935	20	0	1	0
chr14	20747837	20747837	G	A	exonic	EDDM3A	.	nonsynonymous SNV	EDDM3A:NM_006683:exon2:c.G257A:p.S86N,	.	.	.	.	.	.	.	.	.	.	.	2714571	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.47	T	0.001	B	0.001	B	0.423	N	1.000	N	1.1	L	0.94	T	-1.051	T	0.073	T	0.014	1.757	11.83	-1.21	-0.365	-0.497	5.105	0.054	0.00245575216734	.	.	8.243e-06	0	0	0	0	1.499e-05	0	0	1.29e-05	2	154602	rs532594291	1.984e-05	2.052e-05	2.45e-05	1.513e-05	2.608e-05	1.392e-05	1.203e-05	1.83e-05	1.582e-05	0	0	0	0	0	0	2.608e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334	0.12961	T	0.522	0.10391	T	0.001	0.07471	B	0.001	0.04355	B	0.423104	0.04660	N	1.378240	1	0.08975	N	0.405	0.12330	N	0.94	0.43672	T	1.0	0.01408	N	0.028	0.00618	-1.0510	0.14119	T	0.073	0.29675	T	10	0.028373152	0.00970	T	0.002456	0.04840	T	0.054	0.15330	0.147	0.05039	0.194818534648	0.19098	0.10616492581970637	0.10546	0.036009807883	0.03802	0.300982058048	0.10548	T	0.001993	0.01403	T	-0.476151	0.00779	T	-0.814078	0.01576	T	0.0474835187196732	0.05051	T	0.264674	0.04299	T	0.030141084	0.02626	0.05337572	0.08979	0.030141084	0.02625	0.05337572	0.08978	-3.531	0.16869	T	.	.	0.065	0.01834	B	.	.	0.351038	0.07241	3.840	0.94416396250383516	0.24819	0.00498	0.02351	N	AEFBI	0.018529	0.00569	N	-1.17509415503401	0.05378	0.2450481	-1.26639008852798	0.04893	0.2318861	0.697169479521736	0.22654	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	1.9	-1.21	0.09033	-0.479000	0.06647	1.884000	0.29472	0.373000	0.20310	0.010000	0.18352	0.941000	0.28781	0.823000	0.38780	0.487:0.0:0.513:0.0	5.105	0.14111	779	0.47767	Ribonuclease A-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	0.1111	147.34	118	chr14	20747837	.	G	A	147.34	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-3.194e+00;DP=1717;ExcessHet=0.6776;FS=228.147;InbreedingCoeff=-0.1516;MLEAC=4;MLEAF=0.111;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=-1.130e-01;SOR=10.330	GT:AD:DP:GQ:PL	0/1:73,29:106:26:26,0,1643	14	0	4	3
chr14	23042730	23042730	C	T	exonic	PSMB11	.	nonsynonymous SNV	PSMB11:NM_001099780:exon1:c.C505T:p.R169C,	.	.	423	1083	16	0	0	16	0.00733272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.407	B	0.02	B	0.007	N	0.720	N	1.87	L	1.98	T	-1.079	T	0.025	T	0.134	0.833	8.358	0.415	-0.234	0.534	4.920	0.082	0.00675155771635	0.0010	0.00159744	0.0015	0.0005	0.0004	0	0	0.0020	0.0011	0.0023	0.0014618	226	154602	rs200339082	0.0012	0.0012	0.0010	0.0013	0.0121	0.0011	0.0011	0.0099	0.0090	0.0003	0.0007	0.0144	5.039e-05	5.706e-05	0.0121	0.0007	0.0023	0.0033	0.0013	0.0013	0.0014	0.0012	0.0031	0.0011	0.0011	0.0024	0.0022	0.0004	0	0.0031	0.0127	0	9.409e-05	0.0136	0.0010	0.0024	0.0025	0.092	0.31682	T	0.091	0.40110	T	0.407	0.34981	B	0.02	0.19048	B	0.007149	0.31570	N	0.331635	0.719579	0.29935	N	1.57	0.39626	L	1.98	0.21865	T	-6.78	0.92825	D	0.105	0.08925	-1.0788	0.07582	T	0.025	0.10777	T	10	0.004525423	0.00093	T	0.006752	0.17840	T	0.082	0.23913	.	.	0.231231049324	0.22751	0.7130113112798295	0.71243	0.197695114079	0.22139	0.23636816442	0.02472	T	0.254047	0.62465	T	-0.596055	0.00154	T	-0.632019	0.10262	T	0.0262100873119283	0.01435	T	0.931307	0.74459	D	0.3074701	0.53566	0.24831097	0.50379	0.3074701	0.53566	0.24831097	0.50378	-7.312	0.56281	T	.	.	0.062	0.01252	B	.	.	1.760417	0.22389	15.60	0.98335697913952647	0.40388	0.28353	0.23531	N	AEFDGBHCI	0.116204	0.22815	N	-0.643985651720558	0.17635	0.9091565	-0.735476993225821	0.16080	0.8489407	0.999999189375987	0.74766	0.520426	0.21595	0	0.573888	0.26702	0	0.440839	0.06518	1	0.613276	0.41899	0	.	.	5.36	0.415	0.15628	0.382000	0.20364	-0.128000	0.11649	0.599000	0.40250	0.002000	0.15269	0.000000	0.08366	0.974000	0.55675	0.1376:0.4695:0.0:0.3929	4.920	0.13220	798	0.45050	.	.	.	.	.	.	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	3409.98	34	chr14	23042730	.	C	T	3409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.18;DP=1021;ExcessHet=0.0000;FS=1.623;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.09;ReadPosRankSum=1.10;SOR=0.571	GT:AD:DP:GQ:PL	0/1:104,122:226:99:3424,0,2533	20	0	1	0
chr14	23104899	23104901	GCA	-	exonic	LMLN2	.	nonframeshift deletion	LMLN2:NM_001354640:exon1:c.20_22del:p.L11del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	713.64	28	chr14	23104886	.	GGCAGCAGCAGCAGCA	GGCAGCAGCAGCA,G	713.64	.	AC=1,2;AF=0.028,0.056;AN=36;BaseQRankSum=4.000e-03;DP=459;ExcessHet=0.3892;FS=0.890;InbreedingCoeff=0.1411;MLEAC=1,2;MLEAF=0.028,0.056;MQ=60.00;MQRankSum=0.00;QD=11.33;ReadPosRankSum=0.261;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:10,0,4:14:99:0|1:23104886_GGCAGCAGCAGCAGCA_G:138,168,588,0,420,408:23104886	15	0	1	3
chr14	23359769	23359769	C	T	exonic	EFS	.	nonsynonymous SNV	EFS:NM_001385607:exon3:c.G430A:p.E144K	.	.	403	1092	27	0	0	27	0.0122117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	T	1.0	D	0.994	D	0.027	N	1.000	D	2.075	M	0.66	T	-0.686	T	0.290	T	0.524	4.191	21.7	4.74	2.459	2.059	16.640	0.217	.	0.0021	0.00339457	0.0031	0	0.0021	0.0001	0.0029	0.0038	0.0026	0.0065	0.002943	455	154602	rs115218741	0.0025	0.0026	0.0023	0.0028	0.0104	0.0025	0.0024	0.0082	0.0074	0.0002	0.0014	0.0153	0	0.0012	0.0104	0.0022	0.0032	0.0068	0.0026	0.0026	0.0026	0.0027	0.0070	0.0024	0.0023	0.0052	0.0045	0.0003	0.0099	0.0012	0.0156	0.0002	0.0027	0.0034	0.0035	0.0028	0.0070	0.074	0.91255	T	0.677	0.20551	T	1.0	0.90584	D	0.981	0.82059	D	0.027196	0.25796	N	0.386281	1	0.81001	D	1.585	0.39878	L	0.39	0.57419	T	-0.52	0.31375	N	0.469	0.56833	-0.6864	0.61076	T	0.290	0.66153	T	10	0.006389618	0.00145	T	.	.	.	0.217	0.51112	.	.	0.772507708426	0.77042	0.42707260885334847	0.42624	0.577584500276	0.53677	0.706908106804	0.68145	T	0.05622	0.30227	T	-0.325667	0.06445	T	-0.238102	0.50983	T	0.0118301181174284	0.00184	T	0.884611	0.61727	D	0.1934456	0.41055	0.13702153	0.32765	0.1934456	0.41055	0.13702153	0.32764	-2.478	0.10138	T	.	.	0.222	0.61552	B	.;.	.;.	4.545615	0.71494	25.7	0.99921253721777525	0.98787	0.45200	0.27486	N	AEFDBI	0.082063	0.16612	N	0.440590834040716	0.63673	4.605446	0.412869474435724	0.62366	4.45079	0.999990391923078	0.74766	0.634777	0.41761	0	0.59043	0.45803	0	0.643519	0.47002	0	0.562822	0.20929	0	.	.	4.74	4.74	0.59717	2.588000	0.45802	7.714000	0.66958	0.596000	0.33519	0.360000	0.25842	1.000000	0.68203	0.943000	0.48514	0.0:1.0:0.0:0.0	16.640	0.84925	479	0.77495	.;.	.	.	.	.	.	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	1087.98	33	chr14	23359769	.	C	T	1087.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.69;DP=826;ExcessHet=0.0000;FS=6.869;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.00;ReadPosRankSum=-7.850e-01;SOR=1.571	GT:AD:DP:GQ:PL	0/1:28,40:68:99:1102,0,629	20	0	1	0
chr14	23475303	23475303	C	G	exonic	NGDN	.	nonsynonymous SNV	NGDN:NM_001042635:exon4:c.C277G:p.R93G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.05	M	-0.16	T	0.200	D	0.579	D	0.99	3.850	19.56	6.17	2.941	3.071	19.651	0.523	0.0653704827456	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.15	0.88382	M	-0.16	0.65378	T	-6.84	0.93217	D	0.92	0.92317	0.200	0.85900	D	0.579	0.84818	D	10	0.9746983	0.97191	D	0.06537	0.69559	D	0.618	0.85144	0.945	0.99302	0.877283266246	0.87608	0.7525379672240016	0.75200	0.540360582224	0.51234	0.583938539028	0.50640	T	0.726476	0.92310	D	0.359815	0.87239	D	0.279073	0.87073	D	0.967656036534979	0.67980	D	0.956104	0.83579	D	0.96912986	0.98179	0.93916166	0.97712	0.96912986	0.98179	0.93916166	0.97712	-11.648	0.83094	D	.	.	0.91	0.84122	P	.;.;.	.;.;.	5.051683	0.84147	28.2	0.998981552953501	0.97048	0.97509	0.75211	D	AEFBI	0.666361	0.63485	D	0.566658721480209	0.71101	5.600187	0.616395010638383	0.76130	6.434643	0.961396517317286	0.28551	0.719381	0.83141	0	0.723133	0.82719	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	3.585000	0.53686	7.607000	0.61769	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.651	0.95800	478	0.77585	.;.;.	.	.	.	.	.	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	935.98	66	chr14	23475303	.	C	G	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.548;DP=1481;ExcessHet=0.0000;FS=0.988;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.18;ReadPosRankSum=0.340;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:33,38:71:99:0|1:23475296_G_A:950,0,749:23475296	20	0	1	0
chr14	23522225	23522225	G	T	exonic	ZFHX2	.	nonsynonymous SNV	ZFHX2:NM_033400:exon10:c.C7456A:p.P2486T,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.022	B	0.015	B	0.068	N	0.856	N	0.2	N	0.94	T	-1.018	T	0.051	T	0.249	-0.835	0.585	1.76	0.185	0.087	14.455	0.050	0.00465226949775	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.131e-05	1.163e-05	1.178e-05	1.082e-05	1.43e-05	6.79e-06	5.39e-06	8.59e-06	6.81e-06	0	0	0	0	0	0	1.43e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.765	0.03431	T	0.839	0.03621	T	0.022	0.18677	B	0.015	0.17295	B	0.067574	0.21731	N	0.332690	0.856093	0.35305	D	0.09	0.08384	N	0.94	0.43672	T	1.72	0.00564	N	0.242	0.27316	-1.0176	0.24495	T	0.051	0.21806	T	10	0.056679785	0.06391	T	0.004652	0.11534	T	0.050	0.13987	0.303	0.27164	0.0611884634855	0.05136	0.27860524098580447	0.27773	.	.	0.413457691669	0.26936	T	4.18E-4	0.00135	T	-0.200611	0.20718	T	-0.52594	0.19694	T	0.149096950888634	0.17031	T	0.630337	0.24523	T	0.04796552	0.08284	0.05337788	0.08979	0.04796552	0.08284	0.05337788	0.08978	-4.773	0.34275	T	.	.	0.095	0.15070	B	.	.	2.361559	0.30291	18.39	0.83822182919357868	0.14939	0.11866	0.16912	N	AEFDBCI	0.070753	0.14057	N	-0.990745934681613	0.08800	0.4140378	-0.896582938916083	0.12174	0.6247235	0.99886709839992	0.37845	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	4.81	1.76	0.23776	3.899000	0.56000	3.202000	0.36756	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.925000	0.46118	0.0:0.4405:0.5595:0.0	14.455	0.66988	575	0.70088	.	.	.	.	.	.	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	1149.98	34	chr14	23522225	.	G	T	1149.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.43;DP=797;ExcessHet=0.0000;FS=0.803;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.094;SOR=0.578	GT:AD:DP:GQ:PL	0/1:47,40:87:99:1164,0,1299	20	0	1	0
chr14	24131619	24131619	C	T	exonic	FITM1	.	nonsynonymous SNV	FITM1:NM_203402:exon1:c.C56T:p.A19V,	.	.	422	1099	1	0	0	1	0.000454752	.	.	2245105	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.41	T	0.0	B	0.0	B	0.006	N	0.986	N	-0.345	N	.	.	-1.028	T	0.032	T	0.118	0.754	7.996	1.58	0.567	0.514	5.667	0.014	0.00673539445237	0.0005	.	0.0006	0.0001	0.0003	0	0.0002	0.0011	0	0	0.0004851	75	154602	rs147792464	0.0006	0.0006	0.0006	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	5.98e-05	0.0002	0.0013	0	0.0002	0.0002	0.0007	0.0004	1.164e-05	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0006	0.0006	2.405e-05	0	0.0006	0.0020	0	0.0002	0	0.0008	0.0005	0	0.199	0.20456	T	0.0	0.92824	D	0.0	0.02946	B	0.0	0.01387	B	0.005818	0.32491	N	0.188323	0.999956	0.19072	N	0	0.06538	N	.	.	.	-1.01	0.26639	N	0.115	0.10340	-1.0281	0.21070	T	0.032	0.13592	T	9	0.01075986	0.00238	T	0.006735	0.17784	T	0.014	0.01968	.	.	0.21737058555	0.21362	0.3138563487760153	0.31298	0.17335062885	0.19523	0.549640476704	0.45807	T	0.042884	0.26325	T	-0.529514	0.00386	T	-0.599507	0.12854	T	0.0142392466213956	0.00282	T	.	.	.	0.042839747	0.06570	0.05932397	0.11114	0.042839747	0.06570	0.05932397	0.11114	-4.045	0.24474	T	.	.	0.100	0.17103	B	.	.	1.349498	0.17571	13.24	0.97048563991409087	0.32142	0.04506	0.10129	N	AEFDBIJ	0.081451	0.16482	N	-1.05158970944229	0.07556	0.3514244	-0.936031701716159	0.11248	0.5718694	0.999957931421497	0.48110	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.613276	0.41899	0	.	.	4.6	1.58	0.22557	0.492000	0.22144	1.053000	0.23654	-0.177000	0.10537	0.082000	0.22389	0.531000	0.25362	0.744000	0.35576	0.0:0.6485:0.0:0.3515	5.667	0.16975	893	0.26510	.	.	.	.	.	.	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	917.98	34	chr14	24131619	.	C	T	917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.518e+00;DP=757;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.34;ReadPosRankSum=-5.920e-01;SOR=0.651	GT:AD:DP:GQ:PL	0/1:30,34:64:99:932,0,837	20	0	1	0
chr14	24215571	24215571	G	A	exonic	MDP1;NEDD8-MDP1	.	nonsynonymous SNV	MDP1:NM_001199821:exon3:c.C190T:p.P64S	.	.	427	1093	2	0	0	2	0.000914077	.	.	3285272	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.73	T	0.181	B	0.054	B	.	.	0.999	N	0.48	N	-4.42	D	-0.141	T	0.735	D	0.197	2.378	13.91	4.06	2.489	2.459	12.614	0.273	0.0708424413019	0.0005	.	0.0006	0	0.0002	0	0	0.0010	0.0011	0.0002	0.0005239	81	154602	rs140361770	0.0005	0.0005	0.0005	0.0005	0.0017	0.0005	0.0005	0.0009	0.0007	5.974e-05	0.0004	0.0051	0	7.488e-05	0.0017	0.0005	0.0005	0.0002	0.0005	0.0005	0.0005	0.0005	0.0007	0.0004	0.0003	0.0005	0.0005	0	0	0.0005	0.0032	0	0	0	0.0007	0.0019	0.0002	0.585	0.14645	T	0.607	0.16766	T	0.008	0.29111	B	0.005	0.25828	B	.	.	.	.	0.998799	0.21902	N	1.385	0.34509	L	-4.42	0.97469	D	-0.02	0.22944	N	0.247	0.33469	-0.1408	0.79145	T	0.735	0.90944	D	9	0.00993216	0.00223	T	0.070842	0.71111	D	0.273	0.58883	.	.	0.825461045849	0.82381	0.19497705373840482	0.19415	0.134997171501	0.15216	.	.	.	0.041116	0.25751	T	-0.194192	0.21644	T	-0.132246	0.60783	T	0.072941832387389	0.09058	T	.	.	.	0.102389894	0.24195	0.14822459	0.35045	0.102389894	0.24194	0.14822459	0.35045	-6.377	0.49330	T	.	.	0.134	0.32589	B	.;.;.	.;.;.	3.065666	0.41183	21.3	0.9890671661385404	0.48290	0.22111	0.21635	N	ALL	0.306879	0.41390	N	-0.423740057910024	0.24639	1.331832	-0.272879977692916	0.28995	1.621016	0.99999999540912	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	5.01	4.06	0.46572	2.490000	0.44953	7.091000	0.57505	0.676000	0.76740	0.672000	0.28366	1.000000	0.68203	0.348000	0.25613	0.0:0.0:0.8353:0.1647	12.614	0.55923	894	0.26265	HAD-superfamily phosphatase, subfamily IIIC;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1283.98	33	chr14	24215571	.	G	A	1283.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.712;DP=823;ExcessHet=0.0000;FS=2.656;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.47;ReadPosRankSum=0.625;SOR=1.002	GT:AD:DP:GQ:PL	0/1:55,48:103:99:1298,0,1518	20	0	1	0
chr14	30936527	30936527	C	T	exonic	STRN3	.	nonsynonymous SNV	STRN3:NM_001083893:exon6:c.G814A:p.G272R	.	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.029	B	0.009	B	0.001	D	1.000	D	0.6	N	2.37	T	-0.941	T	0.154	T	0.53	2.556	14.51	5.44	2.546	3.514	12.594	0.069	0.0112026812301	.	.	8.252e-06	0	0	0	0	0	0	6.064e-05	3.84e-05	1	26028	rs780984438	6.844e-06	6.84e-06	1.362e-06	1.238e-05	0.0005	3.46e-06	2.52e-06	0.0001	7.55e-05	0	0	0	0	0	0.0005	0	1.657e-05	6.968e-05	6.575e-06	6.568e-06	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.117	0.41096	T	0.268	0.30534	T	0.006	0.19866	B	0.006	0.14300	B	0.000954	0.40932	D	0.285613	0.906694	0.49910	D	1.285	0.32305	L	0.03	0.62183	T	-2.05	0.51968	N	0.38	0.42149	-0.9405	0.42536	T	0.154	0.48498	T	10	0.14879692	0.28172	T	0.011203	0.28580	T	0.069	0.20116	0.314	0.28935	0.680980400174	0.67826	0.17356944359484813	0.17276	0.146906915339	0.16579	0.646862208843	0.59539	T	0.050489	0.28609	T	-0.133768	0.30888	T	-0.248397	0.49976	T	0.384320914745331	0.28348	T	0.905509	0.69895	D	0.15029891	0.34223	0.17238443	0.39489	0.15029891	0.34222	0.17238443	0.39488	-3.014	0.10365	T	.	.	0.11	0.41602	B	.;.	.;.	3.712222	0.53000	23.3	0.9950492584252133	0.68264	0.82678	0.41873	D	AEFGBI	0.368949	0.45586	N	0.229676929115983	0.52643	3.437074	0.350928786225415	0.58562	4.027631	0.99999906727581	0.74766	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.44	5.44	0.79348	3.563000	0.53529	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.924:0.0:0.076	12.594	0.55813	807	0.43470	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1468.98	34	chr14	30936527	.	C	T	1468.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.467;DP=809;ExcessHet=0.0000;FS=2.392;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.77;ReadPosRankSum=-2.860e-01;SOR=0.932	GT:AD:DP:GQ:PL	0/1:55,60:115:99:1483,0,1330	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	0/1:51,30:81:99:247,0,890	0	0	21	0
chr14	58442714	58442714	G	A	exonic	KIAA0586	.	nonsynonymous SNV	KIAA0586:NM_001244191:exon5:c.G164A:p.S55N	Joubert syndrome 23, Autosomal recessive;Short-rib thoracic dysplasia 14 with polydactyly, Autosomal recessive	.	434	1085	3	0	0	3	0.00138058	.	.	1483558	Joubert_syndrome_23|Short-rib_thoracic_dysplasia_14_with_polydactyly	MONDO:MONDO:0014664,MedGen:C4084822,OMIM:616490,Orphanet:475|MONDO:MONDO:0014688,MedGen:C4225286,OMIM:616546,Orphanet:397715	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.33	T	0.009	B	0.013	B	0.096	N	0.933	N	0.885	L	0.88	T	-1.059	T	0.059	T	0.119	1.684	11.59	0.544	0.260	0.475	4.988	0.039	0.00454131131482	.	.	.	.	.	.	.	.	.	.	.	.	.	rs754191741	4.957e-06	4.788e-06	4.202e-06	5.729e-06	2.717e-05	2.06e-06	1.33e-06	1.99e-06	1.31e-06	0	2.717e-05	0	0	0	0	5.53e-06	0	0	6.573e-06	6.568e-06	0	1.346e-05	2.413e-05	0	0	.	.	2.413e-05	0	0	0	0	0	0	0	0	0	0.257	0.16738	T	0.476	0.12037	T	0.004	0.12183	B	0.006	0.12133	B	0.096135	0.20091	N	0.539236	0.932525	0.27019	N	0.71	0.18616	N	0.88	0.46028	T	-0.83	0.28084	N	0.178	0.19190	-1.0589	0.12032	T	0.059	0.24649	T	10	0.06054777	0.07454	T	0.004541	0.11189	T	0.039	0.10176	0.529	0.63560	0.17258766438	0.16869	0.03956513221446249	0.03902	0.0192408906969	0.01881	0.405057191849	0.25771	T	0.010206	0.38133	T	-0.319016	0.06978	T	-0.632375	0.10235	T	0.0470164567232132	0.04967	T	0.716728	0.33277	T	0.07855085	0.17894	0.05509609	0.09600	0.07855085	0.17894	0.05509609	0.09600	-3.265	0.13290	T	0.1609648922346577	0.19674	0.096	0.15251	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.333981	0.17395	13.14	0.95649655980977955	0.27461	0.46810	0.27842	N	AEFBI	0.025325	0.01716	N	-0.504694696242567	0.21928	1.167289	-0.380591530600119	0.25576	1.407367	0.550435698134122	0.21329	0.615465	0.37627	0	0.601575	0.49859	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.22	0.544	0.16375	0.510000	0.22430	2.314000	0.32094	-0.105000	0.15698	0.649000	0.28163	0.990000	0.31317	0.961000	0.51904	0.3603:0.1535:0.4862:0.0	4.988	0.13546	894	0.26265	.;.;.;.;.;.;.;.	.	.	.	.	.	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	809.98	35	chr14	58442714	.	G	A	809.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.002e+00;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.90;ReadPosRankSum=-6.250e-01;SOR=0.620	GT:AD:DP:GQ:PL	0/1:55,36:91:99:824,0,1473	20	0	1	0
chr14	64125137	64125137	C	T	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon71:c.C13481T:p.T4494I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.534	P	0.283	B	0.000	D	1.000	D	0.895	L	4.01	T	-0.968	T	0.152	T	0.268	1.591	11.28	4.95	2.764	1.373	10.568	0.042	0.0429659292901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.51853	T	0.002	0.79402	D	0.319	0.32965	B	0.106	0.31143	B	0.000063	0.52346	D	0.000000	1	0.81001	D	2.175	0.60977	M	0.65	0.64630	T	-2.79	0.61435	D	0.416	0.45992	-0.9681	0.37592	T	0.152	0.48153	T	10	0.14874935	0.28163	T	0.042966	0.60739	D	0.042	0.11227	0.41	0.44559	0.50557994651	0.50197	0.3832851948462289	0.38243	0.322598077182	0.34443	0.46203494072	0.33590	T	0.031528	0.48038	T	-0.0624294	0.42527	T	-0.327452	0.41753	T	0.850886404514313	0.50242	D	0.810219	0.58827	T	0.14395137	0.33063	0.12859504	0.30937	0.14395137	0.33063	0.12859504	0.30936	-3.594	0.17770	T	.	.	0.391	0.59085	A	.;.;.;.;.	.;.;.;.;.	3.284626	0.45021	22.1	0.9045738284007101	0.19715	0.61706	0.31563	D	AEFBCI	0.078357	0.15808	N	-0.0317437912186275	0.40421	2.400194	0.12695373522391	0.45932	2.847769	0.368995984227818	0.19851	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.84	4.95	0.64894	1.417000	0.34378	3.206000	0.36776	0.589000	0.31548	0.833000	0.30177	0.753000	0.26565	0.996000	0.76049	0.0:0.8567:0.0:0.1433	10.568	0.44373	566	0.70798	.;.;.;.;.	.	.	.	.	.	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	1322.98	35	chr14	64125137	.	C	T	1322.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.822e+00;DP=835;ExcessHet=0.0000;FS=0.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.76;ReadPosRankSum=0.213;SOR=0.626	GT:AD:DP:GQ:PL	0/1:65,58:123:99:1337,0,1684	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	0/1:102,30:132:99:.:.:114,0,1982	6	0	14	1
chr14	64738747	64738747	G	C	exonic	PLEKHG3	.	nonsynonymous SNV	PLEKHG3:NM_001308147:exon15:c.G1410C:p.K470N,	.	.	415	1101	6	0	0	6	0.00271739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.999	D	0.964	D	0.377	N	1.000	D	2.19	M	1.24	T	-0.903	T	0.109	T	0.167	3.287	17.04	0.882	0.630	2.204	4.446	0.156	.	0.0055	0.00519169	0.0177	0.0023	0.0648	0.0027	0.0589	0.0184	0.0041	0.0156	0.0066429	1027	154602	rs72724477	0.0080	0.0081	0.0078	0.0082	0.0159	0.0079	0.0078	0.0148	0.0144	0.0012	0.0159	0.0040	0.0008	0.0119	0.0023	0.0078	0.0070	0.0130	0.0064	0.0064	0.0061	0.0066	0.0124	0.0060	0.0059	0.0099	0.0090	0.0018	0.0055	0.0105	0.0049	0.0010	0.0102	0	0.0079	0.0038	0.0124	0.0	0.91255	D	0.426	0.92824	T	0.999	0.77913	D	0.929	0.71005	D	0.377271	0.13440	N	0.699647	0.996422	0.81001	D	2.665	0.77964	M	1.24	0.36691	T	-2.84	0.59873	D	0.39	0.56403	-0.9027	0.47705	T	0.109	0.39509	T	10	0.0069660246	0.00158	T	.	.	.	0.156	0.40720	0.247	0.18293	0.491729458163	0.48807	0.2769457900198724	0.27607	0.65192617917	0.58404	0.628261268139	0.56898	T	0.030109	0.21421	T	-0.450265	0.01125	T	-0.405925	0.32697	T	0.026208640920483	0.01435	T	0.749925	0.37732	T	0.12395166	0.29094	0.1000488	0.23908	0.12395166	0.29094	0.1000488	0.23908	-5.124	0.39576	T	.	.	0.282	0.64658	B	.;.;.;.	.;.;.;.	3.435602	0.47770	22.5	0.99826171060265678	0.90852	0.66194	0.32994	D	AEFDBCI	0.136211	0.25681	N	0.286979450758873	0.55488	3.712822	0.217238421954152	0.50803	3.268629	0.749180870419722	0.23332	0.67177	0.52595	0	0.573888	0.26702	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	0.882	0.18306	2.368000	0.43875	2.153000	0.30925	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.3466:0.0:0.4994:0.154	4.446	0.11019	404	0.82510	.;.;.;.	.	.	.	.	.	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	714.98	34	chr14	64738747	.	G	C	714.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e+00;DP=792;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.77;ReadPosRankSum=-4.980e-01;SOR=0.764	GT:AD:DP:GQ:PL	0/1:58,34:92:99:729,0,1514	20	0	1	0
chr14	64774520	64774520	T	G	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon23:c.A4850C:p.E1617A	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	T	0.117	B	0.062	B	0.000	D	1.000	D	1.15	L	0.67	T	-1.041	T	0.099	T	0.436	1.356	10.46	5.25	1.966	6.259	14.139	0.142	0.0317399119179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.552	0.06543	T	0.688	0.18395	T	0.002	0.09854	B	0.017	0.18140	B	0.000002	0.62929	D	0.059028	0.999975	0.53665	D	1.455	0.36767	L	0.67	0.52187	T	-1.65	0.39503	N	0.32	0.36779	-1.0406	0.17132	T	0.099	0.37009	T	10	0.2341393	0.40448	T	0.03174	0.53746	D	0.142	0.37995	0.561	0.68093	0.351146185902	0.34720	0.1616448569744492	0.16085	0.244366285691	0.26938	0.438334673643	0.30350	T	0.016702	0.68631	T	-0.0648027	0.42154	T	-0.330861	0.41374	T	0.612109243869781	0.36885	D	0.879712	0.59601	D	0.42792568	0.62617	0.13447845	0.32223	0.42792568	0.62617	0.13447845	0.32222	-3.144	0.11808	T	0.2322639409226988	0.31436	0.133	0.29172	B	.;.;.;.;.;.	.;.;.;.;.;.	4.235640	0.64182	24.7	0.84306153370385706	0.15215	0.93879	0.59455	D	AEFDGBHCI	0.836509	0.75426	D	-0.110439432015819	0.36937	2.141957	0.0736780484544563	0.43230	2.629081	0.999999999986068	0.74766	0.656854	0.48797	0	0.547309	0.14657	0	0.67347	0.61138	0	0.542086	0.14980	0	.	.	5.25	5.25	0.73169	6.255000	0.72423	7.909000	0.73932	0.654000	0.53741	1.000000	0.71638	1.000000	0.68203	0.827000	0.38976	0.0:0.0:0.0:1.0	14.139	0.64841	453	0.79178	.;.;.;.;.;.	.	.	.	.	.	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	375.98	40	chr14	64774520	.	T	G	375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.146;DP=780;ExcessHet=0.0000;FS=1.400;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.13;ReadPosRankSum=-1.780e-01;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:16,15:31:99:1|0:64774510_A_G:390,0,627:64774510	20	0	1	0
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	1/1:0,11,0:11:34:496,34,0,496,34,496	0	19	0	0
chr14	69776337	69776337	C	A	exonic	SLC10A1	.	nonsynonymous SNV	SLC10A1:NM_003049:exon5:c.G995T:p.G332V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.28	T	0.047	B	0.017	B	0.066	N	1.000	N	0.805	L	3.17	T	-1.026	T	0.018	T	0.567	1.390	10.58	-6.29	-1.515	-2.785	13.481	0.183	0.00284292488241	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs567292118	2.053e-06	2.052e-06	1.362e-06	2.751e-06	8.962e-05	5.5e-07	1.5e-07	2.375e-05	1.258e-05	8.962e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.397	0.10588	T	0.07	0.43721	T	0.047	0.21998	B	0.017	0.18140	B	0.065889	0.02194	N	1.888390	0.999999	0.08975	N	1.78	0.46185	L	3.17	0.07599	T	-0.37	0.13226	N	0.086	0.06322	-1.0256	0.21886	T	0.018	0.07565	T	10	0.048048586	0.04204	T	0.002843	0.05956	T	0.183	0.45592	0.292	0.25400	0.0954503805726	0.09146	0.5129913047209612	0.51221	0.00135844162341	0.00116	0.18957786262	0.00218	T	0.125961	0.45202	T	-0.22955	0.16708	T	-0.567509	0.15679	T	0.111533768475056	0.13581	T	0.630337	0.24523	T	0.033330288	0.03529	0.06045079	0.11514	0.033330288	0.03529	0.06045079	0.11514	-1.743	0.02345	T	.	.	0.073	0.04477	B	.	.	-1.212226	0.00518	0.012	0.69732803401608956	0.09067	0.17203	0.19734	N	AEFDBHCI	0.264336	0.38170	N	-1.69042425118096	0.00876	0.03792163	-1.77514534138578	0.00842	0.03762257	0.999999995262446	0.74766	0.498214	0.20090	0	0.573116	0.20632	0	0.572659	0.19721	0	0.711	0.71501	0	.	.	5.13	-6.29	0.01838	-3.055000	0.00688	-4.087000	0.02350	-1.275000	0.01275	0.000000	0.06391	0.000000	0.08366	0.022000	0.11911	0.0:0.1278:0.6608:0.2114	13.481	0.60791	774	0.48577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1077.98	34	chr14	69776337	.	C	A	1077.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.174;DP=757;ExcessHet=0.0000;FS=0.902;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.77;ReadPosRankSum=-7.170e-01;SOR=0.926	GT:AD:DP:GQ:PL	0/1:32,41:73:99:1092,0,757	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|1:9,8,0:17:99:0|1:77027445_C_T:309,0,353,336,377,713:77027445	1	6	8	5
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|1:9,8,0:17:99:0|1:77027445_C_T:309,0,353,336,377,713:77027445	6	6	8	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	0/1:103,43:156:41:41,0,1755	5	0	16	0
chr14	85622171	85622171	G	C	exonic	FLRT2	.	nonsynonymous SNV	FLRT2:NM_001346143:exon2:c.G657C:p.K219N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.755	P	0.456	P	0.000	D	1.000	D	0.345	N	0.25	T	-1.051	T	0.104	T	0.166	0.689	7.680	4.57	2.722	3.496	6.852	0.098	0.0157335054179	7.7e-05	.	7.417e-05	0	8.637e-05	0	0	0	0	0.0005	5.82e-05	9	154602	rs149714285	4.994e-05	4.994e-05	3.948e-05	6.05e-05	0.0004	4.059e-05	3.734e-05	0.0003	0.0002	0	0.0003	0	0	0	0.0003	1.888e-05	8.279e-05	0.0004	2.629e-05	2.627e-05	2.57e-05	2.691e-05	0.0002	8.14e-06	5.14e-06	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	1.47e-05	0	0.0002	0.333	0.13003	T	0.295	0.20680	T	0.755	0.43381	P	0.456	0.46291	P	0.000000	0.84330	D	0.049490	0.999694	0.48338	D	0.525	0.13617	N	0.25	0.59449	T	-0.26	0.11185	N	0.338	0.41656	-1.0507	0.14203	T	0.104	0.38243	T	10	0.10742718	0.19953	T	0.015734	0.36624	T	0.098	0.28162	0.421	0.46365	0.630622388715	0.62760	0.5556161955407573	0.55488	0.402808575065	0.41226	0.671069383621	0.62990	T	0.037355	0.24446	T	-0.341579	0.05279	T	-0.417912	0.31316	T	0.07191655607894	0.08917	T	0.848615	0.53011	T	0.10897208	0.25763	0.09123627	0.21439	0.10897208	0.25763	0.09123627	0.21438	-2.508	0.05836	T	.	.	0.238	0.47195	B	.;.	.;.	2.932758	0.38970	20.9	0.97317475231053718	0.33360	0.91274	0.53204	D	AEFDGBHCI	0.567305	0.57294	D	0.150443897734432	0.48834	3.090752	0.274202224358857	0.54037	3.570054	0.999922748908921	0.46280	0.706548	0.73137	0	0.573888	0.26702	0	0.607057	0.38367	0	0.714379	0.83352	0	.	.	5.48	4.57	0.55860	3.665000	0.54270	1.052000	0.23646	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.2487:0.0:0.7513:0.0	6.852	0.23202	948	0.11499	.;.	.	.	.	.	.	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	2647.98	40	chr14	85622171	.	G	C	2647.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.308e+00;DP=1363;ExcessHet=0.0000;FS=3.198;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.37;ReadPosRankSum=0.254;SOR=0.507	GT:AD:DP:GQ:PL	0/1:96,102:198:99:2662,0,2611	20	0	1	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74	Machado-Joseph disease, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0005	0.0004	0.0004	0.0066	0.0004	0.0003	0.0059	0.0057	0.0039	0.0002	0	0.0066	4.089e-05	0.0008	8.033e-05	0.0005	0.0003	0.0029	0.0030	0.0029	0.0030	0.0095	0.0027	0.0026	0.0087	0.0084	0.0095	0	0.0009	0	0.0069	0	0	0.0004	0.0010	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5952	36259.03	42	chr14	92071010	.	C	CCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG,CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	36259.03	.	AC=18,2,2,6,3,2;AF=0.429,0.048,0.048,0.143,0.071,0.048;AN=42;BaseQRankSum=0.860;DP=1771;ExcessHet=0.9430;FS=3.265;InbreedingCoeff=0.0101;MLEAC=18,2,2,6,3,2;MLEAF=0.429,0.048,0.048,0.143,0.071,0.048;MQ=59.43;MQRankSum=0.00;QD=25.62;ReadPosRankSum=1.57;SOR=1.013	GT:AD:DP:GQ:PGT:PID:PL:PS	4/5:0,0,0,0,26,32,0:58:99:.:.:2355,2179,2256,2179,2256,2256,2179,2256,2256,2256,1002,1176,1176,1176,1187,758,788,788,788,0,617,2179,2256,2256,2256,1176,788,2256	1	5	3	0
chr14	92555775	92555780	AGAGGA	-	exonic	RIN3	.	nonframeshift deletion	RIN3:NM_024832:exon2:c.69_74del:p.E28_E29del,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0073	0.00239617	0.0012	0.0093	0.0003	0.0028	0	0.0002	0.0011	0.0003	0.0010284	159	154602	rs376329535	0.0004	0.0004	0.0005	0.0004	0.0104	0.0004	0.0004	0.0095	0.0091	0.0104	0.0007	3.826e-05	0.0019	5.618e-05	0.0002	0.0001	0.0008	0.0002	0.0029	0.0029	0.0028	0.0030	0.0095	0.0026	0.0026	0.0088	0.0085	0.0095	0	0.0009	0	0.0027	0.0002	0.0034	7.349e-05	0.0014	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2351.94	35	chr14	92555774	.	GAGAGGA	G	2351.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.775;DP=844;ExcessHet=0.0000;FS=3.249;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=18.97;ReadPosRankSum=2.31;SOR=0.992	GT:AD:DP:GQ:PL	0/1:63,61:124:99:2366,0,2453	20	0	1	0
chr14	92652452	92652452	G	A	exonic	RIN3	.	nonsynonymous SNV	RIN3:NM_001319987:exon5:c.G1178A:p.R393Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.999	D	0.637	P	0.646	N	1.000	N	1.32	L	3.41	T	-0.993	T	0.009	T	0.028	2.200	13.31	2.36	0.779	0.989	6.702	0.060	.	0.0100	0.00638978	0.0027	0.0291	0.0012	0	0	4.505e-05	0.0022	0.0002	0.0024967	386	154602	rs143884398	0.0008	0.0008	0.0008	0.0007	0.0282	0.0007	0.0007	0.0267	0.0261	0.0282	0.0016	0	0	0	0.0009	1.619e-05	0.0017	0.0001	0.0088	0.0089	0.0089	0.0087	0.0315	0.0084	0.0083	0.0301	0.0295	0.0315	0	0.0018	0	0	0	0.0034	2.942e-05	0.0038	0	0.027	0.46513	D	0.283	0.21478	T	0.999	0.77913	D	0.637	0.51992	P	0.646043	0.10556	N	0.826075	1	0.08975	N	2.05	0.56469	M	3.41	0.05574	T	-0.73	0.20576	N	0.166	0.20528	-0.9930	0.31827	T	0.009	0.03011	T	10	0.0034264028	0.00060	T	.	.	.	0.060	0.17295	.	.	0.40318662893	0.39936	0.12056528278695332	0.11983	0.364535939947	0.38068	0.289632558823	0.08869	T	0.001531	0.12515	T	-0.68422	0.00045	T	-0.731236	0.04272	T	0.00595263800526958	0.00065	T	0.768523	0.39806	T	0.04896222	0.08619	0.06012215	0.11399	0.04896222	0.08619	0.06012215	0.11398	-3.86	0.21704	T	.	.	0.078	0.14933	B	.;.	.;.	2.558301	0.33127	19.25	0.99778469250219326	0.86519	0.06628	0.12645	N	AEFDGBCI	0.081748	0.16546	N	-0.34273426500914	0.27540	1.511808	-0.34100838111855	0.26789	1.481964	0.999999854788958	0.74766	0.706548	0.73137	0	0.52208	0.09955	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.22	2.36	0.28258	1.034000	0.29811	2.892000	0.35396	0.618000	0.50648	0.067000	0.21986	1.000000	0.68203	0.219000	0.22435	0.3831:0.0:0.6169:0.0	6.702	0.22415	840	0.37365	.;.	.	.	.	.	.	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	1262.98	44	chr14	92652452	.	G	A	1262.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.89;DP=923;ExcessHet=0.0000;FS=2.471;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.48;ReadPosRankSum=-1.272e+00;SOR=0.485	GT:AD:DP:GQ:PL	0/1:62,48:110:99:1277,0,1483	20	0	1	0
chr14	92809378	92809378	G	A	exonic	GOLGA5	.	nonsynonymous SNV	GOLGA5:NM_005113:exon4:c.G851A:p.R284Q,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.44	T	0.171	B	0.104	B	0.001	N	0.993	D	0.995	L	0.9	T	-1.105	T	0.039	T	0.026	2.521	14.39	3.29	0.461	1.812	9.497	0.037	.	0.0057	0.00599042	0.0018	0.0198	0.0007	0	0	3.005e-05	0.0011	0	0.0016882	261	154602	rs114206362	0.0005	0.0005	0.0006	0.0005	0.0192	0.0005	0.0005	0.0180	0.0175	0.0192	0.0010	0	0	3.744e-05	0.0003	2.789e-05	0.0011	1.159e-05	0.0055	0.0056	0.0057	0.0054	0.0193	0.0052	0.0051	0.0181	0.0177	0.0193	0	0.0017	0	0	0	0	5.881e-05	0.0066	0	0.223	0.18757	T	0.315	0.19421	T	0.171	0.28729	B	0.104	0.31021	B	0.001396	0.39175	N	0.000000	0.992705	0.41719	D	0.965	0.23975	L	0.9	0.45248	T	-1.59	0.38345	N	0.086	0.06322	-1.1051	0.03527	T	0.039	0.16634	T	10	0.0062217712	0.00140	T	.	.	.	0.037	0.09474	.	.	0.438383285633	0.43460	0.17969791197791632	0.17888	0.177885931959	0.20015	0.299754858017	0.10364	T	0.030524	0.21617	T	-0.638226	0.00085	T	-0.673949	0.07357	T	0.0149805735213209	0.00321	T	0.879112	0.59504	D	0.069703855	0.15293	0.06473806	0.13019	0.069703855	0.15292	0.06473806	0.13019	-1.647	0.02094	T	.	.	0.062	0.01348	B	.	.	2.594142	0.33655	19.40	0.99695742822295896	0.80248	0.91122	0.52903	D	AEFBI	0.260273	0.37845	N	-0.255136619388531	0.30898	1.727307	-0.103509190066547	0.35248	2.037049	0.948351323095894	0.27796	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	3.29	0.36801	1.860000	0.39068	4.418000	0.43305	0.676000	0.76740	0.994000	0.38300	1.000000	0.68203	0.995000	0.73285	0.3898:0.0:0.6102:0.0	9.497	0.38162	940	0.13648	.	.	.	.	.	.	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	1550.98	33	chr14	92809378	.	G	A	1550.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.63;DP=775;ExcessHet=0.0000;FS=0.836;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.50;ReadPosRankSum=-1.930e-01;SOR=0.542	GT:AD:DP:GQ:PL	0/1:38,56:94:99:1565,0,798	20	0	1	0
chr14	92932382	92932382	C	G	exonic	CHGA	.	nonsynonymous SNV	CHGA:NM_001301690:exon6:c.C368G:p.A123G	.	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.856	P	0.391	B	0.804	N	1.000	N	1.52	L	4.83	T	-0.892	T	0.003	T	0.032	1.774	11.89	3.47	0.975	.	9.450	0.088	.	0.0083	0.0061901	0.0049	0.0358	0.0043	0	0	0	0.0045	0	0.001837	284	154602	rs9658663	0.0007	0.0007	0.0008	0.0006	0.0269	0.0007	0.0007	0.0254	0.0248	0.0269	0.0014	0	0	0	0.0004	8.197e-06	0.0016	4.907e-05	0.0075	0.0075	0.0078	0.0072	0.0261	0.0072	0.0070	0.0248	0.0243	0.0261	0	0.0026	0	0	0	0	5.882e-05	0.0071	0	0.218	0.26409	T	0.237	0.24621	T	0.856	0.47190	P	0.391	0.44178	B	0.803706	0.06785	N	1.098280	1	0.08975	N	2.395	0.69210	M	4.83	0.01493	T	-1.23	0.31170	N	0.135	0.16308	-0.8924	0.48722	T	0.003	0.00961	T	10	0.0030075014	0.00049	T	.	.	.	0.088	0.25558	.	.	0.236890367714	0.23314	0.061077663869595136	0.06047	0.670945208319	0.59438	0.262982308865	0.05250	T	0.160541	0.50442	T	-0.686984	0.00044	T	-0.738632	0.03949	T	0.0218548715078348	0.00892	T	.	.	.	0.05931666	0.12040	0.05508359	0.09597	0.05931666	0.12039	0.05508359	0.09596	-3.156	0.11951	T	.	.	0.097	0.15832	B	.;.	.;.	2.537051	0.32816	19.15	0.99038019455684745	0.50962	0.56286	0.30078	D	AEFDBCI	0.179154	0.30643	N	-0.226677898066835	0.32042	1.802929	-0.276671190520573	0.28868	1.612946	0.969594800920622	0.29140	0.650006	0.45971	0	0.547309	0.14657	0	0.606735	0.37207	0	0.613276	0.41899	0	.	.	4.36	3.47	0.38831	0.948000	0.28694	0.852000	0.22147	0.599000	0.40250	0.738000	0.29006	0.335000	0.24393	0.503000	0.29084	0.0:0.899:0.0:0.101	9.450	0.37887	911	0.21964	.;.	.	.	.	.	.	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	1173.98	35	chr14	92932382	.	C	G	1173.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.067e+00;DP=843;ExcessHet=0.0000;FS=2.453;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.30;ReadPosRankSum=0.164;SOR=0.706	GT:AD:DP:GQ:PL	0/1:67,47:114:99:1188,0,1810	20	0	1	0
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	0/1:79,40:122:99:.:.:521,0,2611	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	0/1:91,40:131:99:.:.:518,0,2636	12	0	3	6
chr14	100327248	100327248	G	A	exonic	SLC25A47	.	nonsynonymous SNV	SLC25A47:NM_207117:exon4:c.G205A:p.V69M,	.	.	417	1102	3	0	0	3	0.00135931	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.968	D	0.893	P	0.001	N	1.000	D	2.17	M	-1.39	T	0.009	D	0.566	D	0.354	2.701	14.99	1.95	0.238	1.963	9.238	0.539	0.0999623187801	0.0002	.	4.966e-05	0	0	0	0.0002	7.524e-05	0	0	5.17e-05	8	154602	rs149858549	4.599e-05	5.404e-05	5.056e-05	4.138e-05	0.0007	3.674e-05	3.359e-05	0.0002	0.0001	0.0001	8.947e-05	0	0	6.193e-05	0.0007	4.137e-05	4.971e-05	3.478e-05	0.0002	0.0002	0.0002	0.0002	0.0010	0.0001	0.0001	0.0006	0.0005	0.0002	0	0.0010	0	0	9.418e-05	0	4.409e-05	0	0	0.033	0.44358	D	0.041	0.50514	D	0.968	0.56581	D	0.893	0.63340	P	0.000572	0.43250	N	0.234460	0.998891	0.81001	D	2.31	0.66127	M	-1.39	0.80387	T	-1.57	0.37955	N	0.657	0.66700	0.009	0.82437	D	0.566	0.84244	D	10	0.71197873	0.73103	D	0.099962	0.77193	D	0.539	0.80723	.	.	0.523082183605	0.51953	0.5194557174897618	0.51868	0.42459538528	0.42886	0.60348379612	0.53396	T	0.070217	0.33904	T	-0.0902662	0.38033	T	-0.130769	0.60906	T	0.505360066890717	0.32826	D	0.935106	0.75644	D	0.118273415	0.27869	0.21629137	0.46251	0.118273415	0.27868	0.21629137	0.46250	-6.444	0.49852	T	.	.	0.146	0.32178	B	.	.	3.608622	0.51007	23.0	0.9979911635874722	0.88372	0.86452	0.45735	D	AEFDBI	0.702013	0.65852	D	0.126508252388431	0.47702	2.992222	-0.0206767504544943	0.38783	2.28986	0.999582919036644	0.40607	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.85	1.95	0.25130	2.598000	0.45887	3.035000	0.36058	0.614000	0.49286	0.998000	0.41325	0.999000	0.35428	0.114000	0.18915	0.078:0.4202:0.5018:0.0	9.238	0.36638	933	0.16026	.	.	.	.	.	.	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	612.98	34	chr14	100327248	.	G	A	612.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=783;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.30;ReadPosRankSum=-1.910e-01;SOR=0.748	GT:AD:DP:GQ:PL	0/1:54,30:84:99:627,0,1333	20	0	1	0
chr14	103108478	103108478	G	A	exonic	EXOC3L4	.	nonsynonymous SNV	EXOC3L4:NM_001077594:exon10:c.G1937A:p.R646Q,	.	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.91	P	0.182	B	0.651	N	1.000	N	1.95	M	3.29	T	-0.987	T	0.011	T	0.22	1.282	10.19	-0.028	0.067	0.235	6.169	0.069	0.0239430674218	0.0027	0.00139776	0.0035	0.0006	0.0015	0.0001	0.0067	0.0047	0.0011	0.0027	0.0034023	526	154602	rs148718670	0.0031	0.0031	0.0030	0.0033	0.0042	0.0031	0.0030	0.0032	0.0031	0.0004	0.0016	0.0051	5.038e-05	0.0066	0.0042	0.0032	0.0032	0.0023	0.0035	0.0035	0.0036	0.0034	0.0049	0.0032	0.0032	0.0045	0.0043	0.0005	0.0570	0.0011	0.0052	0.0002	0.0070	0	0.0049	0.0033	0.0017	0.334	0.12961	T	0.034	0.52727	D	0.91	0.50240	P	0.182	0.35926	B	0.650602	0.10516	N	0.816109	1	0.08975	N	2.2	0.62015	M	3.29	0.06445	T	-1.07	0.27876	N	0.231	0.25989	-0.9865	0.33469	T	0.011	0.04227	T	10	0.0076559484	0.00174	T	0.023943	0.46920	T	0.069	0.20116	.	.	0.115124310173	0.11017	0.2663063714197273	0.26543	0.0382972999509	0.04077	0.278146058321	0.07235	T	0.001435	0.00891	T	-0.601614	0.00143	T	-0.633785	0.10130	T	0.00635878509147724	0.00071	T	0.750125	0.37153	T	0.059664056	0.12152	0.059761144	0.11269	0.059664056	0.12152	0.059761144	0.11269	-4.488	0.30731	T	.	.	0.088	0.11510	B	.	.	1.761469	0.22403	15.61	0.98874673944757863	0.47702	0.04259	0.09790	N	AEFDBHCI	0.083957	0.17012	N	-0.472227064416708	0.22995	1.231677	-0.633017471132988	0.18647	0.9970609	0.999999999993434	0.74766	0.608966	0.35542	0	0.468601	0.06657	0	0.769059	0.98459	0	0.562822	0.20929	0	.	.	4.14	-0.0279	0.13251	-0.687000	0.05257	0.027000	0.13676	0.662000	0.56354	0.000000	0.06391	0.000000	0.08366	0.191000	0.21631	0.4805:0.0:0.5195:0.0	6.169	0.19621	643	0.63827	.	.	.	.	.	.	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	3406.11	34	chr14	103108478	.	G	A	3406.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.96;DP=987;ExcessHet=0.1072;FS=2.655;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.62;ReadPosRankSum=-4.470e-01;SOR=0.715	GT:AD:DP:GQ:PL	0/1:77,58:135:99:1539,0,1886	19	0	2	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	0/2:1,0,5:6:24:210,213,255,0,42,24	11	3	4	0
chr14	104887105	104887105	G	A	exonic	CEP170B	.	nonsynonymous SNV	CEP170B:NM_015005:exon11:c.G2656A:p.V886M	.	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	2.22	M	0.07	T	-0.044	T	0.427	T	0.196	2.715	15.04	4.33	1.933	2.646	16.805	0.228	0.380392907891	7.9e-05	.	0.0004	0.0001	0	0	0.0002	9.396e-05	0	0.0023	0.0002911	45	154602	rs200257503	0.0002	0.0002	0.0001	0.0002	0.0022	0.0002	0.0002	0.0019	0.0018	2.987e-05	0	0	0	0.0002	0.0002	4.678e-05	3.315e-05	0.0022	0.0002	0.0002	0.0001	0.0003	0.0025	0.0001	0.0001	0.0014	0.0011	7.237e-05	0	6.54e-05	0	0	0.0006	0	7.35e-05	0	0.0025	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000029	0.55875	D	0.070231	0.991663	0.81001	D	3.095	0.87515	M	0.07	0.64264	T	-2.65	0.56787	D	0.3	0.33904	-0.0442	0.81329	T	0.427	0.77015	T	10	0.030845761	0.01214	T	0.380393	0.92958	D	0.228	0.52768	.	.	0.600755789398	0.59757	0.1018540274202779	0.10116	0.570923923692	0.53234	0.540897965431	0.44572	T	0.224831	0.58938	T	-0.376373	0.03283	T	-0.320674	0.42500	T	0.266588375161817	0.23601	T	0.783522	0.45144	T	.	.	.	.	.	.	.	.	-8.62	0.65222	D	.	.	0.204	0.43004	B	.;.;.	.;.;.	2.957314	0.39368	20.9	0.99875425346307833	0.95244	0.92166	0.55092	D	AEFDBI	0.335546	0.43395	N	0.434617511230321	0.63338	4.565382	0.322877273450313	0.56888	3.852808	0.994063053020121	0.33472	0.706548	0.73137	0	0.547309	0.14657	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.33	4.33	0.51083	2.730000	0.47007	2.696000	0.34125	-0.984000	0.01883	0.988000	0.36536	0.999000	0.35428	0.707000	0.34357	0.0:0.0:1.0:0.0	16.805	0.85485	976	0.04745	.;.;CEP170, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1817.98	39	chr14	104887105	.	G	A	1817.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.042;DP=877;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=-1.977e+00;SOR=0.689	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1832,0,1465	20	0	1	0
chr14	104930816	104930816	C	G	exonic	PLD4	.	stopgain	PLD4:NM_001308174:exon7:c.C813G:p.Y271X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	D	.	.	.	.	.	.	.	.	.	6.365	37	3.71	2.258	0.190	8.510	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.388	0.43126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.595077	0.97509	D	0.61701	0.97470	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Recessive;.	.;High;.	9.785665	0.99314	43	0.99670697060754254	0.78587	0.95761	0.66042	D	AEFDBI	0.413414	0.48310	N	0.665506576789026	0.77375	6.662795	0.507023905609371	0.68463	5.223305	0.99797469162695	0.36262	0.706298	0.61202	0	0.709663	0.81188	0	0.596491	0.31596	0	0.421638	0.06922	2	.	.	4.62	3.71	0.41733	0.486000	0.22048	1.521000	0.27092	0.599000	0.40250	0.995000	0.38783	1.000000	0.68203	0.986000	0.61781	0.0:0.7594:0.0:0.2406	8.510	0.32372	982	0.03397	.;PLD-like domain;PLD-like domain	.	.	.	.	.	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	2281.98	36	chr14	104930816	.	C	G	2281.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.099;DP=859;ExcessHet=0.0000;FS=3.672;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.09;ReadPosRankSum=0.103;SOR=0.931	GT:AD:DP:GQ:PL	0/1:69,93:162:99:2296,0,1569	20	0	1	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	1|1:1,214,0:215:99:1|1:104946204_C_T:9521,602,0,9524,644,9566:104946204	1	7	12	0
chr14	104948786	104948786	A	G	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T6365C:p.L2122P	.	.	424	1093	5	0	0	5	0.00228206	.	.	3255153	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.4	T	0.004	B	0.004	B	.	.	1.000	N	-2.1	N	5.13	T	-0.928	T	0.002	T	0.099	0.158	4.850	2.06	0.790	-0.936	8.651	0.024	0.00974985759523	.	.	0.0001	0.0002	0.0004	0.0001	0	6.001e-05	0	0.0001	3.84e-05	1	26028	rs757022688	7.529e-05	0.0001	7.9e-05	7.155e-05	0.0017	6.386e-05	5.942e-05	0.0009	0.0007	0.0002	0.0004	0	5.046e-05	0	0.0017	5.308e-05	0.0001	0.0001	0.0001	0.0003	0.0001	0.0001	0.0003	8.339e-05	6.866e-05	9.085e-05	5.459e-05	0.0002	0	0.0003	0	0.0002	0	0	0.0001	0.0005	0	0.147	0.24955	T	0.267	0.22561	T	0.004	0.12183	B	0.004	0.10090	B	.	.	.	.	0.999997	0.20372	N	-1.78	0.00307	N	5.13	0.01211	T	3.45	0.00091	N	0.113	0.10056	-0.9276	0.44487	T	0.002	0.00497	T	9	0.026194364	0.00792	T	0.00975	0.25449	T	0.024	0.04979	.	.	0.0666544352282	0.05500	0.002384248051804869	0.00221	.	.	0.206782832742	0.00682	T	0.017734	0.14416	T	-0.365692	0.03818	T	-0.763067	0.03003	T	0.00742173427715898	0.00086	T	0.19608	0.02165	T	0.027466143	0.01942	0.06831685	0.14250	0.027466143	0.01942	0.06831685	0.14250	0.789	0.00162	T	.	.	0.044	0.00035	B	.	.	-0.585526	0.01611	0.110	0.18171188115951445	0.00560	0.00181	0.01060	N	AEFBI	.	.	.	-1.46015034166472	0.02138	0.09409077	-1.35260762369119	0.03775	0.176801	1.91956662957708E-4	0.05898	0.706548	0.73137	0	0.55458	0.17659	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	4.26	2.06	0.25932	-0.665000	0.05386	-2.028000	0.04322	-2.154000	0.00372	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2712:0.0:0.7288:0.0	8.651	0.33195	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	1686.98	203	chr14	104948786	.	A	G	1686.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.710e-01;DP=5157;ExcessHet=0.0000;FS=8.286;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.45;MQRankSum=-9.070e+00;QD=8.35;ReadPosRankSum=0.521;SOR=0.684	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,53:202:99:0|1:104948786_A_G:1701,0,6050:104948786	20	0	1	0
chr14	104948811	104948811	C	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.G6340A:p.A2114T	.	.	428	1088	6	0	0	6	0.00274977	.	.	2770869	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.55	T	0.996	D	0.993	D	.	.	1.000	N	1.59	L	5.55	T	-0.924	T	0.007	T	0.043	2.409	14.02	-0.488	-0.346	-0.046	4.925	0.028	0.00178641489804	.	.	6.634e-05	0.0001	8.64e-05	0	0	7.502e-05	0	6.056e-05	3.84e-05	1	26028	rs757140039	8.144e-05	0.0001	7.081e-05	9.217e-05	0.0019	6.938e-05	6.489e-05	0.0011	0.0008	0.0002	0.0002	3.827e-05	2.522e-05	0	0.0019	5.397e-05	0.0002	0.0001	0.0001	0.0005	0.0002	0.0001	0.0009	9.846e-05	8.345e-05	0.0006	0.0004	2.463e-05	0	0.0009	0	0.0002	0	0	5.901e-05	0.0010	0	0.311	0.13971	T	0.276	0.21947	T	0.996	0.68779	D	0.993	0.81110	D	.	.	.	.	1	0.08975	N	0.925	0.23481	L	5.55	0.00874	T	-0.76	0.21215	N	0.026	0.00527	-0.9237	0.45041	T	0.007	0.02360	T	9	0.083375186	0.13863	T	0.001786	0.03037	T	0.028	0.06331	.	.	0.0297737177859	0.01360	0.0027179339878852906	0.00252	.	.	0.2029735744	0.00548	T	0.020202	0.15948	T	-0.59544	0.00155	T	-0.808372	0.01702	T	0.0172800999134779	0.00469	T	0.378562	0.09103	T	0.016556041	0.00205	0.038506757	0.03735	0.016556041	0.00205	0.038506757	0.03735	-4.394	0.29475	T	.	.	0.084	0.09627	B	.	.	0.017179	0.04404	1.144	0.99533899890496902	0.70025	0.03761	0.09070	N	AEFBI	.	.	.	-0.489376226572196	0.22428	1.197527	-0.745695451544033	0.15828	0.8343838	9.61606102438991E-5	0.04910	0.706548	0.73137	0	0.55458	0.17659	0	0.602189	0.34648	0	0.714379	0.83352	0	.	.	3.63	-0.488	0.11455	-1.069000	0.03555	-11.563000	0.00594	-0.978000	0.01909	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.4439:0.2955:0.2607	4.925	0.13243	982	0.03397	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	4807.11	203	chr14	104948811	.	C	T	4807.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.42;DP=5134;ExcessHet=0.1072;FS=6.556;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.82;MQRankSum=-4.614e+00;QD=11.00;ReadPosRankSum=3.56;SOR=0.768	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,38:181:99:0|1:104948786_A_G:1165,0,5890:104948786	19	0	2	0
chr14	104950286	104950286	A	T	exonic	AHNAK2	.	nonsynonymous SNV	AHNAK2:NM_001350929:exon7:c.T4865A:p.V1622E	.	.	431	1089	2	0	0	2	0.000917431	.	.	2349045	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.06	T	0.198	B	0.237	B	.	.	1.000	N	3.085	M	4.57	T	-0.961	T	0.014	T	0.462	2.502	14.33	-2.08	-0.834	0.091	0.943	0.092	0.00516632455293	.	.	0.0003	0	0	0	0	4.577e-05	0	0.0023	0.0002652	41	154602	rs752913697	0.0002	0.0002	0.0001	0.0002	0.0024	0.0002	0.0001	0.0021	0.0020	9.159e-05	0	0	0	0.0001	0.0002	2.918e-05	1.681e-05	0.0024	0.0001	0.0001	6.703e-05	0.0002	0.0026	9.081e-05	7.594e-05	0.0015	0.0012	2.58e-05	0	6.969e-05	0	0	0.0004	0	3.032e-05	0	0.0026	0.08	0.33585	T	0.171	0.30339	T	0.198	0.29589	B	0.237	0.38508	B	.	.	.	.	1	0.08975	N	2.675	0.78361	M	4.57	0.01917	T	-2.6	0.55983	D	0.322	0.36254	-0.9608	0.39031	T	0.014	0.05705	T	9	0.011078447	0.00244	T	0.005166	0.13125	T	0.092	0.26621	0.319	0.29741	0.130388298395	0.12655	0.010509557745156156	0.01011	.	.	0.230354294181	0.01994	T	0.027251	0.19999	T	-0.230557	0.16574	T	-0.461298	0.26457	T	0.1025394936018	0.12634	T	0.361264	0.08331	T	0.21961868	0.44497	0.15033834	0.35459	0.21961868	0.44497	0.15033834	0.35458	-8.897	0.67031	D	.	.	0.149	0.32922	B	.	.	0.863360	0.12360	8.897	0.96156257464329098	0.28884	0.10796	0.16198	N	AEFBI	.	.	.	-0.776620159066213	0.13921	0.6893904	-0.985763727316465	0.10104	0.50683	1.49191882040635E-4	0.05573	0.67177	0.52595	0	0.573888	0.26702	0	0.602189	0.34648	0	0.711	0.71501	0	.	.	3.97	-2.08	0.06852	0.132000	0.15716	.	.	0.689000	0.82905	0.000000	0.06391	.	.	0.001000	0.02609	0.5029:0.1593:0.1838:0.1539	0.943	0.01273	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	0.02381	4518.98	299	chr14	104950286	.	A	T	4518.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=5.18;DP=5389;ExcessHet=0.0000;FS=0.408;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.89;MQRankSum=0.895;QD=12.87;ReadPosRankSum=-5.450e-01;SOR=0.663	GT:AD:DP:GQ:PL	0/1:196,155:351:99:4533,0,5587	20	0	1	0
chr15	20534613	20534613	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	679.27	87	chr15	20534613	.	C	*,T	679.27	.	AC=7,3;AF=0.175,0.075;AN=40;BaseQRankSum=-3.180e-01;DP=2018;ExcessHet=6.1002;FS=0.000;InbreedingCoeff=-0.3332;MLEAC=7,3;MLEAF=0.175,0.075;MQ=54.83;MQRankSum=0.894;QD=0.62;ReadPosRankSum=2.91;SOR=0.709	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,10,0:83:99:0|1:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:173,0,2913,403,2943,3347:20534604	10	0	7	1
chr15	20534634	20534718	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	0	exonic	GOLGA6L6	.	.	.	.	.	495	631	268	4	124	400	0.179454	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2232.49	67	chr15	20534634	.	CTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCCTTATCTTCTCCTCCTGCTTCCACATCTTCTCCTCCTGCTCCTGCCTCTTT	C,*	2232.49	.	AC=9,5;AF=0.237,0.132;AN=38;BaseQRankSum=1.18;DP=1927;ExcessHet=14.4320;FS=1.229;InbreedingCoeff=-0.5556;MLEAC=10,5;MLEAF=0.263,0.132;MQ=51.48;MQRankSum=1.62;QD=2.28;ReadPosRankSum=-1.960e-01;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,4,10:51:99:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:213,176,2151,0,1379,2591:20534604	5	0	9	2
chr15	20534647	20534647	C	0	exonic	GOLGA6L6	.	.	.	.	.	647	584	57	3	231	294	0.0511779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	649.96	67	chr15	20534647	.	C	*,T	649.96	.	AC=14,2;AF=0.333,0.048;AN=42;BaseQRankSum=0.996;DP=1957;ExcessHet=20.9642;FS=0.000;InbreedingCoeff=-0.6154;MLEAC=14,2;MLEAF=0.333,0.048;MQ=52.26;MQRankSum=0.013;QD=0.62;ReadPosRankSum=0.174;SOR=0.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,4,0:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,0,1975,265,1859,2523:20534604	5	0	14	0
chr15	20534663	20534663	G	0	exonic	GOLGA6L6	.	.	.	.	.	528	730	36	1	227	265	0.0253672	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	276.43	67	chr15	20534663	.	G	GC,*	276.43	.	AC=1,12;AF=0.025,0.300;AN=40;BaseQRankSum=1.27;DP=1702;ExcessHet=11.8493;FS=0.000;InbreedingCoeff=-0.4737;MLEAC=1,12;MLEAF=0.025,0.300;MQ=50.51;MQRankSum=-1.904e+00;QD=0.35;ReadPosRankSum=0.00;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,265,2523,0,1859,1975:20534604	7	0	1	1
chr15	20534664	20534665	CT	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,4,0:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,0,1975,265,1859,2523:20534604	7	0	12	1
chr15	20534665	20534665	T	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1769delA:p.E590Gfs*26,	.	.	554	732	222	4	10	240	0.135773	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0047	0.0009	0.0012	0.0086	0.0010	0.0010	0.0071	0.0065	0.0013	0.0035	0.0024	0.0086	0.0024	0.0016	0.0007	0.0012	0.0030	0.0013	0.0023	0.0013	0.0012	0.0017	0.0011	0.0010	0.0014	0.0013	0.0007	0	0.0017	0	0.0011	0.0013	0	0.0017	0.0012	0.0011	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.325	123.44	67	chr15	20534664	.	CT	*,C	123.44	.	AC=12,1;AF=0.300,0.025;AN=40;BaseQRankSum=1.26;DP=1675;ExcessHet=11.8493;FS=1.307;InbreedingCoeff=-0.4745;MLEAC=12,1;MLEAF=0.300,0.025;MQ=49.82;MQRankSum=0.344;QD=0.15;ReadPosRankSum=0.955;SOR=0.777	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,4,0:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,0,1975,265,1859,2523:20534604	7	0	12	1
chr15	20534667	20534686	CCTTATCTTCTCCTCCTGCT	-	exonic	GOLGA6L6	.	frameshift deletion	GOLGA6L6:NM_001145004:exon8:c.1748_1767del:p.K583Rfs*43,	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0018	0.0047	0.0014	0.0023	0.0079	0.0018	0.0017	0.0061	0.0055	0.0015	0.0036	0.0052	0.0079	0.0051	0.0038	0.0014	0.0019	0.0060	0.0022	0.0042	0.0024	0.0021	0.0035	0.0019	0.0018	0.0022	0.0020	0.0012	0	0.0035	0	0.0027	0.0020	0	0.0028	0.0028	0.0033	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,265,2523,0,1859,1975:20534604	6	0	1	3
chr15	20534666	20534686	CCCTTATCTTCTCCTCCTGCT	0	exonic	GOLGA6L6	.	.	.	.	.	599	689	226	4	4	238	0.145161	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	115.09	67	chr15	20534666	.	CCCTTATCTTCTCCTCCTGCT	C,*	115.09	.	AC=1,11;AF=0.028,0.306;AN=36;BaseQRankSum=2.35;DP=1656;ExcessHet=10.3454;FS=0.611;InbreedingCoeff=-0.4288;MLEAC=1,12;MLEAF=0.028,0.333;MQ=49.75;MQRankSum=0.586;QD=0.15;ReadPosRankSum=1.51;SOR=0.756	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,265,2523,0,1859,1975:20534604	6	0	1	3
chr15	20534667	20534667	C	0	exonic	GOLGA6L6	.	.	.	.	.	584	671	32	1	234	268	0.0247093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	276.54	67	chr15	20534667	.	C	*,CA	276.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=2.81;DP=1654;ExcessHet=14.4320;FS=0.598;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.17;MQRankSum=-1.904e+00;QD=0.32;ReadPosRankSum=0.453;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,4,0:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,0,1975,265,1859,2523:20534604	6	0	13	1
chr15	20534668	20534670	CTT	0	exonic	GOLGA6L6	.	.	.	.	.	594	661	33	1	233	268	0.0257922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	240.54	67	chr15	20534668	.	CTT	*,C	240.54	.	AC=13,1;AF=0.325,0.025;AN=40;BaseQRankSum=1.75;DP=1651;ExcessHet=14.4320;FS=0.595;InbreedingCoeff=-0.5273;MLEAC=13,1;MLEAF=0.325,0.025;MQ=49.12;MQRankSum=-1.948e+00;QD=0.28;ReadPosRankSum=1.06;SOR=0.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,4,0:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,0,1975,265,1859,2523:20534604	6	0	13	1
chr15	20534672	20534672	T	0	exonic	GOLGA6L6	.	.	.	.	.	554	704	31	1	232	265	0.0229008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	204.03	67	chr15	20534672	.	T	*,C	204.03	.	AC=13,1;AF=0.342,0.026;AN=38;BaseQRankSum=1.01;DP=1514;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5167;MLEAC=14,1;MLEAF=0.368,0.026;MQ=49.17;MQRankSum=-1.240e+00;QD=0.24;ReadPosRankSum=0.861;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,4,0:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,0,1975,265,1859,2523:20534604	5	0	13	2
chr15	20534676	20534676	C	0	exonic	GOLGA6L6	.	.	.	.	.	520	770	224	4	4	236	0.130926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	169.85	67	chr15	20534676	.	C	T,*	169.85	.	AC=1,12;AF=0.026,0.316;AN=38;BaseQRankSum=2.03;DP=1485;ExcessHet=12.7758;FS=0.000;InbreedingCoeff=-0.4784;MLEAC=1,13;MLEAF=0.026,0.342;MQ=51.07;MQRankSum=-7.020e-01;QD=0.22;ReadPosRankSum=-2.744e+00;SOR=0.741	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,265,2523,0,1859,1975:20534604	6	0	1	2
chr15	20534684	20534684	G	0	exonic	GOLGA6L6	.	.	.	.	.	520	750	24	2	226	254	0.0183246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	199.87	67	chr15	20534684	.	G	*,A	199.87	.	AC=11,2;AF=0.289,0.053;AN=38;BaseQRankSum=-1.982e+00;DP=1452;ExcessHet=13.8672;FS=0.600;InbreedingCoeff=-0.4791;MLEAC=12,2;MLEAF=0.316,0.053;MQ=47.03;MQRankSum=0.825;QD=0.25;ReadPosRankSum=0.678;SOR=0.780	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,4,0:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,0,1975,265,1859,2523:20534604	6	0	11	2
chr15	20534693	20534693	T	C	exonic	GOLGA6L6	.	nonsynonymous SNV	GOLGA6L6:NM_001145004:exon8:c.A1741G:p.M581V,	.	.	525	772	218	4	3	229	0.127684	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	T	0.041	B	0.015	B	.	.	1.000	N	0.805	L	3.33	T	-0.935	T	0.009	T	0.033	-1.793	0.010	.	-1.777	-3.985	.	0.008	0.0074203089576	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310726190	0.0007	0.0036	0.0006	0.0008	0.0040	0.0006	0.0006	0.0029	0.0025	0.0012	0.0015	0.0011	0.0040	0.0015	0.0012	0.0005	0.0008	0.0016	0.0010	0.0023	0.0011	0.0010	0.0015	0.0009	0.0008	0.0012	0.0011	0.0005	0	0.0011	0	0.0007	0.0010	0.0046	0.0015	0.0013	0	.	.	.	0.419	0.14158	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.242	0.27316	-0.9348	0.43424	T	0.009	0.03403	T	7	0.029617101	0.01088	T	0.00742	0.19685	T	.	.	.	.	0.0138822411134	0.00435	0.004044001980495092	0.00379	.	.	0.559128940105	0.47145	T	0.012766	0.11161	T	-0.359971	0.04131	T	-0.75485	0.03301	T	0.0197057358900899	0.00672	T	0.435556	0.11926	T	0.18490703	0.39828	0.36883113	0.62165	0.18490703	0.39828	0.36883113	0.62165	-6.123	0.47297	T	.	.	0.138	0.30130	B	.	.	0.552275	0.09206	5.991	0.22101327030199044	0.00873	0.00122	0.00764	N	AEFI	0.026473	0.01994	N	-1.86920376427058	0.00397	0.01706604	-1.98812300616187	0.00324	0.01432719	1.00268384750379E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.142000	0.15917	-1.292000	0.05797	0.321000	0.19380	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	.	.	.	1000	0.00083	.	.	.	.	.	.	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	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,265,2523,0,1859,1975:20534604	7	0	1	2
chr15	20534693	20534693	T	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	130.94	67	chr15	20534693	.	T	C,*	130.94	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=0.077;DP=1398;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4428;MLEAC=1,12;MLEAF=0.026,0.316;MQ=47.60;MQRankSum=1.05;QD=0.17;ReadPosRankSum=-2.776e+00;SOR=0.713	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,265,2523,0,1859,1975:20534604	7	0	1	2
chr15	20534697	20534697	C	0	exonic	GOLGA6L6	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	53.17	67	chr15	20534697	.	C	T,*	53.17	.	AC=1,11;AF=0.026,0.289;AN=38;BaseQRankSum=1.89;DP=1389;ExcessHet=10.3454;FS=0.000;InbreedingCoeff=-0.4609;MLEAC=1,12;MLEAF=0.026,0.316;MQ=46.42;MQRankSum=0.821;QD=0.07;ReadPosRankSum=-2.438e+00;SOR=0.750	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:37,0,4:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,265,2523,0,1859,1975:20534604	7	0	1	2
chr15	20534699	20534705	CCTCCTG	0	exonic	GOLGA6L6	.	.	.	.	.	504	770	47	2	199	250	0.0320553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1634.86	67	chr15	20534699	.	CCTCCTG	*,C	1634.86	.	AC=10,4;AF=0.263,0.105;AN=38;BaseQRankSum=-1.160e+00;DP=1326;ExcessHet=15.6281;FS=0.000;InbreedingCoeff=-0.5547;MLEAC=11,4;MLEAF=0.289,0.105;MQ=42.46;MQRankSum=-1.014e+00;QD=2.12;ReadPosRankSum=0.176;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,4,0:51:37:1|0:20534604_TCGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCC_T:37,0,1975,265,1859,2523:20534604	5	0	10	2
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	1/1:1,66:67:99:2068,161,0	1	16	3	1
chr15	23361381	23361381	G	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	434	682	98	9	299	415	0.0783784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	3501.0	88	chr15	23361381	.	G	A,*	3501.0	.	AC=3,8;AF=0.071,0.190;AN=42;BaseQRankSum=-1.903e+00;DP=1729;ExcessHet=7.7275;FS=0.553;InbreedingCoeff=-0.3548;MLEAC=3,8;MLEAF=0.071,0.190;MQ=58.26;MQRankSum=0.843;QD=2.89;ReadPosRankSum=1.65;SOR=0.631	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,43,0:124:99:0|1:23361381_G_A:833,0,2730,1077,2859,3935:23361381	10	0	3	0
chr15	23361385	23361385	C	0	exonic	GOLGA8H;GOLGA8S	.	.	.	.	.	439	690	139	1	253	394	0.0927022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2381	3879.31	36	chr15	23361385	.	C	*,G	3879.31	.	AC=7,4;AF=0.167,0.095;AN=42;BaseQRankSum=-6.440e-01;DP=1602;ExcessHet=2.2868;FS=1.792;InbreedingCoeff=-0.1085;MLEAC=7,4;MLEAF=0.167,0.095;MQ=56.41;MQRankSum=-1.962e+00;QD=3.42;ReadPosRankSum=2.34;SOR=0.546	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:82,0,41:123:99:1|0:23361381_G_A:883,1130,4091,0,2961,2839:23361381	11	0	6	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	1/2:0,72,62:134:99:.:.:5056,2176,2418,2967,0,2776	0	0	2	0
chr15	23646439	23646439	G	A	exonic	MAGEL2	.	nonsynonymous SNV	MAGEL2:NM_019066:exon1:c.C1304T:p.P435L,	Schaaf-Yang syndrome, Autosomal dominant	.	7	1511	3	1	0	5	0.0016518	.	.	190578	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00798722	0.0033	0	0	0.0714	0	0	0.0833	0.0040	0.0006533	101	154602	rs2233062	0.0011	0.0011	0.0009	0.0014	0.0139	0.0011	0.0011	0.0132	0.0128	7.714e-05	5.645e-05	0	0.0132	0	0.0006	1.65e-05	0.0031	0.0139	0.0015	0.0016	0.0013	0.0018	0.0260	0.0014	0.0013	0.0224	0.0210	0.0005	0	0.0002	0	0.0260	0	0	0	0.0019	0.0150	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.23253	.	.	.	.	.	.	.	0.0029898882	0.00049	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.10943248933509121	0.10872	.	.	0.77185022831	0.77702	T	0.078882	0.35998	T	-0.51145	0.00492	T	-0.488515	0.23546	T	.	.	.	0.539746	0.18256	T	0.05362197	0.10174	0.08859901	0.20667	0.06293347	0.13196	0.08047231	0.18207	-7.625	0.58485	D	.	.	0.165	0.36475	B	.;.	.;.	2.243029	0.28645	17.86	0.94429257409728073	0.24842	0.01960	0.05947	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.988115089582031	0.31422	0.110573	0.02883	0	0.063388	0.01293	0	0.119651	0.03204	0	0.062806	0.01542	0	0.0652958	0.15597	2.19	-0.0136	0.13308	-0.177000	0.09789	2.600000	0.33516	0.513000	0.23382	0.000000	0.06391	0.934000	0.28616	0.019000	0.11356	0.3316:0.0:0.4067:0.2617	2.006	0.03266	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.02381	990.98	34	chr15	23646439	.	G	A	990.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.81;DP=843;ExcessHet=0.0000;FS=0.782;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.66;ReadPosRankSum=-4.570e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:55,38:93:99:1005,0,1495	20	0	1	0
chr15	28707834	28707834	G	A	exonic	GOLGA8M	.	nonsynonymous SNV	GOLGA8M:NM_001282468:exon8:c.C505T:p.R169C,	.	.	433	1079	9	1	0	11	0.00507146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	.	.	.	.	.	.	1.000	N	1.45	L	1.9	T	-1.023	T	0.063	T	0.176	0.149	4.804	0.798	0.724	2.220	7.458	0.038	0.00163637395798	.	0.000199681	0.0020	0	0.0036	0	0	0.0003	0.0044	0.0053	3.84e-05	1	26028	rs577662356	0.0003	0.0003	0.0001	0.0004	0.0036	0.0003	0.0002	0.0032	0.0031	6.163e-05	0.0002	3.845e-05	0.0003	0	0.0031	3.966e-05	0.0003	0.0036	0.0001	0.0002	4.052e-05	0.0002	0.0015	6.334e-05	5.139e-05	0.0007	0.0005	5.187e-05	0	7.493e-05	0.0003	0	0	0.0034	4.434e-05	0	0.0015	0.021	0.49117	D	0.112	0.37037	T	.	.	.	.	.	.	.	.	.	.	0.999934	0.19363	N	.	.	.	1.9	0.23486	T	-3.8	0.71762	D	0.2	0.22098	-1.0226	0.22866	T	0.063	0.26101	T	7	0.015712112	0.00330	T	0.001636	0.02651	T	.	.	.	.	0.043077524339	0.03247	0.31551573088677504	0.31464	2.25975729635	0.96171	.	.	.	0.099191	0.40376	T	-0.549739	0.00293	T	-0.563912	0.16010	T	0.043474580740483	0.04324	T	0.777822	0.41150	T	0.09089484	0.21283	0.097269535	0.23146	0.09089484	0.21282	0.097269535	0.23146	-8.159	0.62148	D	.	.	0.085	0.10062	B	.	.	2.050135	0.26063	16.99	0.55232935050292731	0.05300	0.16731	0.19523	N	AEFI	0.063153	0.12184	N	-0.476164261831088	0.22864	1.223816	-0.647766546227374	0.18273	0.9754337	4.46700470008146E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	0.798	0.798	0.17803	2.408000	0.44227	1.309000	0.25526	0.221000	0.18078	0.926000	0.32145	0.005000	0.19230	0.001000	0.02609	0.0:0.0:1.0:0.0	7.458	0.26448	923	0.18507	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2559.98	33	chr15	28707834	.	G	A	2559.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.22;DP=886;ExcessHet=0.0000;FS=8.863;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=43.45;MQRankSum=-5.230e+00;QD=11.91;ReadPosRankSum=0.662;SOR=0.344	GT:AD:DP:GQ:PL	0/1:112,103:215:99:2574,0,2708	20	0	1	0
chr15	29137112	29137112	T	A	exonic	FAM189A1	.	nonsynonymous SNV	FAM189A1:NM_015307:exon6:c.A713T:p.D238V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.997	D	0.000	D	1.000	D	2.28	M	3.92	T	-1.196	T	0.043	T	0.745	3.858	19.60	5.37	2.027	7.756	14.551	0.414	0.073911785432	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.034e-06	3.42e-06	2.983e-06	3.087e-06	2.857e-06	7.1e-07	4.8e-07	7.6e-07	2.1e-07	0	0	0	0	0	0	2.857e-06	1.832e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.001	0.83351	D	1.0	0.90584	D	0.997	0.86255	D	0.000077	0.52346	D	0.166860	1	0.81001	D	2.785	0.81254	M	3.92	0.03462	T	-7.5	0.95045	D	0.82	0.81559	-1.1961	0.00181	T	0.043	0.18493	T	10	0.7994902	0.79372	D	0.073912	0.71909	D	0.414	0.72479	0.35	0.34760	0.294918367191	0.29099	0.6919526040654352	0.69135	.	.	0.606605291367	0.53836	T	0.211413	0.57217	T	0.0649203	0.60225	T	-0.144523	0.59723	T	0.997806370258331	0.92464	D	0.972503	0.90119	D	0.50375456	0.67315	0.5189956	0.72209	0.50375456	0.67316	0.5189956	0.72209	-13.186	0.90114	D	.	.	0.774	0.76116	P	.	.	4.687494	0.75076	26.3	0.99406613541251887	0.63075	0.97440	0.74764	D	AEFDBI	0.929013	0.91411	D	0.653622489093833	0.76603	6.517172	0.580968771597665	0.73577	5.993119	0.999999917031903	0.74766	0.706298	0.61202	0	0.588015	0.36545	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.37	5.37	0.76949	7.736000	0.83883	7.692000	0.65839	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	14.551	0.67654	.	.	.	.	.	.	.	.	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	1637.98	33	chr15	29137112	.	T	A	1637.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.16;DP=899;ExcessHet=0.0000;FS=3.967;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.05;ReadPosRankSum=-3.017e+00;SOR=1.024	GT:AD:DP:GQ:PL	0/1:100,63:163:99:1652,0,2691	20	0	1	0
chr15	30144800	30144800	A	G	exonic	GOLGA8T	.	nonsynonymous SNV	GOLGA8T:NM_001355469:exon16:c.A1390G:p.K464E,	.	.	141	1373	5	3	0	11	0.00398984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0104	0.0708	0	0	0	0.0026	0	0.0060	3.84e-05	1	26028	rs768624819	0.0011	0.0015	0.0011	0.0011	0.0131	0.0011	0.0010	0.0121	0.0116	0.0131	0.0015	0.0005	0.0006	0.0004	0.0050	0.0007	0.0018	0.0015	0.0035	0.0051	0.0037	0.0033	0.0128	0.0032	0.0031	0.0117	0.0113	0.0128	0	0.0013	0	0.0007	0	0	0.0010	0.0011	0.0016	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.0	0.21473	T	1.0	0.01408	N	0.117	0.10626	.	.	.	.	.	.	.	0.004632175	0.00097	T	.	.	.	.	.	.	.	0.043077524339	0.03247	0.07507574137809991	0.07443	2.24570123189	0.96051	.	.	.	.	.	.	-0.643758	0.00079	T	-0.681234	0.06909	T	.	.	.	.	.	.	0.030751234	0.02793	0.052468512	0.08650	0.030751234	0.02793	0.052468512	0.08650	-3.834	0.21313	T	.	.	0.056	0.00505	B	.	.	0.369055	0.07412	4.043	0.27797692486325321	0.01397	0.23657	0.22147	N	AEFI	0.040625	0.06068	N	.	.	.	.	.	.	1.27013425035394E-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	-1.12	0.09306	2.007000	0.40503	-1.384000	0.05566	-0.943000	0.02073	1.000000	0.71638	0.000000	0.08366	0.001000	0.02609	0.1929:0.4131:0.394:0.0	5.752	0.17418	826	0.39940	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	344.33	42	chr15	30144800	.	A	G	344.33	.	AC=1;AF=0.025;AN=40;BaseQRankSum=-1.821e+00;DP=800;ExcessHet=0.0000;FS=1.790;InbreedingCoeff=-0.0256;MLEAC=1;MLEAF=0.025;MQ=39.78;MQRankSum=-2.227e+00;QD=2.59;ReadPosRankSum=2.16;SOR=0.901	GT:AD:DP:GQ:PL	0/1:106,27:133:99:358,0,2754	19	0	1	1
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	1/1:0,74,0:74:99:2950,223,0,2950,223,2950	0	10	0	0
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	0/1:55,14:69:61:.:.:61,0,1278	3	0	9	9
chr15	47763853	47763853	G	A	exonic	SEMA6D	.	nonsynonymous SNV	SEMA6D:NM_001358351:exon10:c.G751A:p.V251M	.	.	432	1079	10	1	0	12	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.975	D	0.000	D	1.000	D	2.175	M	2.66	T	-1.013	T	0.101	T	0.82	4.514	24.3	4.93	1.452	6.757	16.815	0.315	0.0135466094741	0.0002	.	0.0004	0.0005	0.0006	0	0	0.0004	0	0.0002	0.0003881	60	154602	rs151039709	0.0003	0.0003	0.0002	0.0003	0.0062	0.0003	0.0003	0.0045	0.0039	0.0005	0.0008	0.0008	0	0	0.0062	0.0002	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0011	0.0003	0.0003	0.0007	0.0006	0.0004	0	0.0011	0.0009	0.0002	0	0	0.0003	0.0009	0.0002	0.044	0.47320	D	0.056	0.52727	T	1.0	0.90584	D	0.975	0.73362	D	0.000005	0.62929	D	0.105633	1	0.81001	D	2.26	0.64354	M	2.66	0.12575	T	-1.77	0.44284	N	0.692	0.75834	-1.0126	0.26101	T	0.101	0.37316	T	10	0.37446675	0.53725	T	0.013547	0.33038	T	0.315	0.63694	.	.	0.20808081866	0.20439	0.43185001481625596	0.43102	1.12731222335	0.78490	0.830019831657	0.86565	D	0.092038	0.38921	T	-0.186636	0.22754	T	-0.140567	0.60069	T	0.0530199557542801	0.06023	T	0.942906	0.79230	D	0.22639838	0.45320	0.26814353	0.52680	0.22639838	0.45320	0.26814353	0.52679	-8.997	0.69431	D	.	.	0.221	0.47116	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.815712	0.78386	26.9	0.99896514871766373	0.96971	0.97589	0.75744	D	AEFBI	0.839830	0.75720	D	0.683295089445397	0.78538	6.891888	0.650340823655489	0.78636	6.916226	0.999999988290198	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.87	4.93	0.64394	6.876000	0.75358	9.965000	0.82823	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.747000	0.35681	0.0:0.1288:0.8712:0.0	16.815	0.85596	767	0.49651	.;Sema domain|Sema domain|Sema domain;.;.;.;Sema domain|Sema domain|Sema domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	950.98	33	chr15	47763853	.	G	A	950.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.984e+00;DP=771;ExcessHet=0.0000;FS=3.173;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.81;ReadPosRankSum=-4.300e-01;SOR=0.384	GT:AD:DP:GQ:PL	0/1:50,38:88:99:965,0,1504	20	0	1	0
chr15	52064815	52064815	T	C	exonic	MAPK6	.	nonsynonymous SNV	MAPK6:NM_002748:exon6:c.T1981C:p.F661L,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	0.0	B	0.001	B	0.000	N	0.999	D	0.695	N	-0.54	T	-0.966	T	0.170	T	0.165	1.292	10.22	3.95	0.841	3.566	7.557	0.099	0.00999997033343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.351	0.12265	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	N	0.090906	0.998691	0.45291	D	0.255	0.09829	N	-0.54	0.70950	T	-0.43	0.14390	N	0.17	0.18103	-0.9663	0.37954	T	0.170	0.51117	T	10	0.09832692	0.17770	T	0.01	0.26012	T	0.099	0.28413	0.252	0.19067	0.292942362817	0.28906	0.5084305033591271	0.50765	0.0261044709138	0.02667	0.520622014999	0.41714	T	0.22831	0.59382	T	-0.132265	0.31130	T	-0.427766	0.30188	T	0.246853113174438	0.22732	T	0.728227	0.34274	T	0.07236734	0.16091	0.07451719	0.16310	0.07236734	0.16091	0.07451719	0.16310	-2.724	0.07506	T	.	.	0.405	0.59865	A	.	.	2.761204	0.36222	20.2	0.96632512907196877	0.30520	0.92191	0.55148	D	AEFBI	0.440909	0.49928	N	-0.309773277962737	0.28776	1.590056	-0.127551966194358	0.34283	1.970367	0.99991020320938	0.45857	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.06	3.95	0.44952	3.720000	0.54661	3.870000	0.40183	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.818000	0.38543	0.0:0.1682:0.0:0.8318	7.557	0.26998	266	0.89551	.	.	.	.	.	.	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	203.11	46	chr15	52064815	.	T	C	203.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.016e+00;DP=950;ExcessHet=0.1072;FS=203.975;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=59.92;MQRankSum=0.00;QD=1.02;ReadPosRankSum=0.905;SOR=7.903	GT:AD:DP:GQ:PL	0/1:78,32:110:99:117,0,1560	19	0	2	0
chr15	65076904	65076904	G	A	exonic	KBTBD13	.	nonsynonymous SNV	KBTBD13:NM_001101362:exon1:c.G89A:p.G30D,	Nemaline myopathy 6, autosomal dominant, Autosomal dominant	.	4	1466	49	3	0	55	0.0184131	.	.	255321	Nemaline_myopathy_6|not_provided|not_specified	MONDO:MONDO:0012237,MedGen:C1836472,OMIM:609273,Orphanet:171439|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	1	T	0.007	B	0.009	B	.	.	0.539	N	-0.77	N	-0.46	T	-0.962	T	0.054	T	0.27	-0.961	0.322	2.65	1.142	2.317	6.114	0.070	.	0.0029	0.00339457	0.0163	0.0012	0.0229	0	0.0056	0.0232	0.0217	0.0122	0.004269	660	154602	rs138484272	0.0045	0.0045	0.0043	0.0048	0.0209	0.0044	0.0044	0.0175	0.0162	0.0010	0.0044	0.0245	7.96e-05	0.0006	0.0209	0.0039	0.0058	0.0096	0.0033	0.0033	0.0034	0.0032	0.0085	0.0031	0.0030	0.0064	0.0057	0.0007	0	0.0027	0.0210	0.0004	0.0006	0.0102	0.0044	0.0052	0.0085	1.0	0.00964	T	1.0	0.01155	T	0.007	0.14184	B	0.009	0.14300	B	.	.	.	.	0.538675	0.31430	N	-0.695	0.01866	N	-0.46	0.70014	T	3.17	0.00119	N	0.179	0.19325	-0.9619	0.38819	T	0.054	0.23034	T	9	0.0052545667	0.00115	T	.	.	.	0.070	0.20419	.	.	0.278968121808	0.27521	0.47289678639966026	0.47208	0.695823666407	0.60829	0.672580480576	0.63206	T	0.108013	0.42070	T	-0.437458	0.01338	T	-0.393193	0.34177	T	0.0051036057448719	0.00055	T	0.643236	0.25495	T	0.09718357	0.22903	0.14858682	0.35117	0.09718357	0.22902	0.14858682	0.35116	-0.14	0.00402	T	0.06970129347696491	0.02634	0.131	0.28203	B	.	.	1.861609	0.23646	16.10	0.89021080283419685	0.18446	0.67065	0.33298	D	AEFDBI	0.236386	0.35884	N	-0.67063207486362	0.16862	0.8628127	-0.451751334981901	0.23499	1.281822	0.89356670736271	0.25909	0.582742	0.33608	0	0.588066	0.40923	0	0.578056	0.29568	0	0.620976	0.48614	0	.	.	4.58	2.65	0.30588	2.348000	0.43701	3.884000	0.40256	0.676000	0.76740	0.986000	0.36153	1.000000	0.68203	0.635000	0.32288	0.4083:0.0:0.5917:0.0	6.114	0.19340	315	0.87208	BTB/POZ domain|BTB/POZ 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	0.04762	1323.11	35	chr15	65076904	.	G	A	1323.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.020e-01;DP=790;ExcessHet=0.1072;FS=0.789;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.93;ReadPosRankSum=-1.930e-01;SOR=0.793	GT:AD:DP:GQ:PL	0/1:25,32:57:99:923,0,701	19	0	2	0
chr15	65205443	65205443	G	A	exonic	CILP	.	nonsynonymous SNV	CILP:NM_003613:exon5:c.C448T:p.R150C,	.	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.978	D	0.328	B	0.111	N	1.000	N	0.045	N	0.41	T	-1.019	T	0.075	T	0.26	1.316	10.31	0.901	0.280	1.207	11.057	0.143	0.0448336654938	.	.	1.682e-05	9.893e-05	0	0	0	1.528e-05	0	0	1.29e-05	2	154602	rs765292514	1.508e-05	1.573e-05	2.044e-05	9.653e-06	0.0005	9.87e-06	8.43e-06	0.0001	7.55e-05	0	0	0	0	0	0.0005	9.011e-06	9.955e-05	3.481e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	0.0002	2.18e-06	8.2e-07	.	.	2.412e-05	0	0	0	0	0	0	0	0	0.0002	0.061	0.37118	T	0.056	0.46632	T	0.978	0.58756	D	0.328	0.42011	B	0.110886	0.19423	N	0.558172	1	0.08975	N	-1.32	0.00691	N	0.41	0.57100	T	-1.03	0.27052	N	0.459	0.49602	-1.0188	0.24106	T	0.075	0.30210	T	10	0.30467236	0.47989	T	0.044834	0.61685	D	0.143	0.38195	.	.	0.593458155424	0.59024	0.5069644941143012	0.50618	0.316542733125	0.33910	0.24077630043	0.02861	T	0.04389	0.26645	T	-0.292901	0.09347	T	-0.476981	0.24768	T	0.128549948334694	0.15247	T	0.541246	0.18358	T	0.069845684	0.15337	0.04320712	0.05325	0.069845684	0.15337	0.04320712	0.05324	-7.831	0.59913	D	.	.	0.160	0.35267	B	.	.	2.086664	0.26544	17.15	0.99681592104111982	0.79307	0.70807	0.34745	D	AEFDBI	0.396841	0.47315	N	-0.425307232250909	0.24584	1.328496	-0.490776370657873	0.22407	1.216856	0.0525647688344946	0.14910	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.56	0.901	0.18416	1.240000	0.32334	3.070000	0.36196	-0.111000	0.15049	0.767000	0.29322	0.323000	0.24333	0.003000	0.05239	0.0:0.0973:0.4949:0.4078	11.057	0.47143	649	0.63102	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2066.98	46	chr15	65205443	.	G	A	2066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.252;DP=880;ExcessHet=0.0000;FS=3.244;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.43;ReadPosRankSum=-1.620e-01;SOR=1.021	GT:AD:DP:GQ:PL	0/1:56,78:134:99:2081,0,1298	20	0	1	0
chr15	66326260	66326260	C	G	exonic	DIS3L	.	nonsynonymous SNV	DIS3L:NM_001323937:exon11:c.C1719G:p.S573R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.029	B	0.033	B	0.056	N	1.000	D	0.49	N	1.3	T	-1.076	T	0.043	T	0.166	2.434	14.10	2.44	0.229	0.607	5.619	0.025	0.00807237602779	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	7.595e-05	1.363e-06	1.376e-06	1.801e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.801e-06	0	0	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.155	0.25355	T	0.353	0.17320	T	0.029	0.19866	B	0.033	0.22329	B	0.055829	0.22610	N	0.539436	0.999548	0.47497	D	-0.285	0.03692	N	1.3	0.35590	T	-1.92	0.44657	N	0.196	0.22228	-1.0764	0.08063	T	0.043	0.18618	T	10	0.08429423	0.14113	T	0.008072	0.21393	T	0.025	0.05312	0.424	0.46857	0.500994481783	0.49735	0.48282530288770603	0.48202	0.189759959303	0.21295	0.441389143467	0.30767	T	0.019826	0.15725	T	-0.2058	0.19975	T	-0.533394	0.18948	T	0.371591597795486	0.27858	T	0.811819	0.46320	T	0.13266377	0.30883	0.17544033	0.40009	0.13266377	0.30882	0.17544033	0.40008	-9.64	0.71728	D	.	.	0.195	0.42820	B	.;.	.;.	2.006311	0.25495	16.78	0.99354999151066503	0.60738	0.93367	0.58027	D	AEFBI	0.310496	0.41649	N	-0.52080163687102	0.21409	1.135919	-0.344169861240159	0.26690	1.475863	0.235350875039061	0.18512	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.4	2.44	0.28875	0.637000	0.24348	0.590000	0.19811	0.581000	0.30040	0.997000	0.40164	0.998000	0.33993	0.995000	0.73285	0.0:0.5695:0.1341:0.2964	5.619	0.16725	644	0.63734	.;Ribonuclease II/R|Ribonuclease II/R	.	.	.	.	.	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	0.1667	421.01	75	chr15	66326260	.	C	G	421.01	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.199e+00;DP=1586;ExcessHet=2.5830;FS=250.229;InbreedingCoeff=-0.2058;MLEAC=7;MLEAF=0.167;MQ=60.00;MQRankSum=0.00;QD=0.66;ReadPosRankSum=1.02;SOR=10.704	GT:AD:DP:GQ:PL	0/1:76,23:99:66:66,0,1760	14	0	7	0
chr15	70055143	70055143	G	A	exonic	TLE3	.	nonsynonymous SNV	TLE3:NM_001282982:exon13:c.C1274T:p.T425M	.	.	413	1102	7	0	0	7	0.00316599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.994	D	0.000	D	1.000	D	2.325	M	2.76	T	-1.055	T	0.087	T	0.766	4.437	23.6	4.54	2.352	9.530	16.228	0.506	0.135390114269	0.0028	0.000399361	0.0018	0.0007	0.0004	0	0.0011	0.0030	0	0	0.0018952	293	154602	rs200508723	0.0026	0.0026	0.0027	0.0026	0.0031	0.0025	0.0025	0.0030	0.0030	0.0003	0.0004	0.0053	0	0.0008	0.0009	0.0031	0.0019	0.0001	0.0018	0.0018	0.0021	0.0015	0.0033	0.0016	0.0015	0.0029	0.0028	0.0006	0.0022	0.0004	0.0040	0	0.0002	0.0034	0.0033	0.0009	0.0002	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.435	0.70606	M	2.76	0.11515	T	-5.48	0.87143	D	0.752	0.88909	-1.0550	0.13040	T	0.087	0.33746	T	10	0.026020706	0.00779	T	0.13539	0.81785	D	0.506	0.78724	.	.	0.258436476835	0.25460	0.610731359534636	0.61005	2.58226240517	0.98069	0.759546399117	0.75862	T	0.537369	0.84098	D	-0.237743	0.15638	T	-0.10915	0.62679	T	0.0549272804061324	0.06344	T	0.991751	0.97401	D	0.8164569	0.84982	0.6772003	0.81042	0.8164569	0.84983	0.6772003	0.81043	-12.83	0.89177	D	.	.	0.291	0.67272	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.741089	0.93331	33	0.99924401658090611	0.98980	0.97627	0.76000	D	AEFDGBHCI	0.921336	0.89465	D	0.805390452140767	0.86442	8.886971	0.753910166750058	0.86450	8.892719	0.999999999999603	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.54	4.54	0.55220	9.875000	0.98483	11.784000	0.96188	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	16.228	0.82137	964	0.07719	WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;WD40-repeat-containing domain;WD40-repeat-containing domain;.;WD40-repeat-containing domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1982.98	39	chr15	70055143	.	G	A	1982.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.632;DP=927;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.96;ReadPosRankSum=0.376;SOR=0.790	GT:AD:DP:GQ:PL	0/1:63,79:142:99:1997,0,1471	20	0	1	0
chr15	73283089	73283089	C	T	exonic	NEO1	.	nonsynonymous SNV	NEO1:NM_001172624:exon22:c.C3355T:p.R1119C	.	.	422	1086	13	1	0	15	0.00685871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	1.665	L	0.1	T	-0.655	T	0.093	T	0.869	4.816	27.3	5.3	2.644	7.247	19.333	0.495	.	0.0012	0.0117812	0.0058	0.0008	0.0027	0.0425	0.0080	0.0029	0.0099	0.0022	0.0054527	843	154602	rs118087147	0.0038	0.0038	0.0038	0.0038	0.0447	0.0037	0.0037	0.0430	0.0423	0.0007	0.0036	0.0058	0.0447	0.0084	0.0172	0.0020	0.0074	0.0027	0.0048	0.0048	0.0043	0.0052	0.0492	0.0045	0.0044	0.0443	0.0424	0.0013	0	0.0057	0.0046	0.0492	0.0109	0.0136	0.0025	0.0071	0.0023	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	2.095	0.58118	M	0.1	0.63077	T	-5.73	0.89334	D	0.783	0.83781	-0.6548	0.62504	T	0.093	0.35283	T	10	0.007161528	0.00163	T	.	.	.	0.495	0.78036	.	.	0.589392501938	0.58614	0.5518740546356979	0.55113	0.865989731613	0.69205	0.706761300564	0.68123	T	0.760	0.93477	D	-0.037222	0.46360	T	0.205173	0.83407	D	0.0469657027440284	0.04958	T	0.990763	0.97171	D	0.71883744	0.79097	0.53594667	0.73184	0.71883744	0.79098	0.53594667	0.73185	-11.548	0.83197	D	.	.	0.478	0.69452	A	.;.;.;.;.	.;.;.;.;.	4.829910	0.78746	27.0	0.99942508714113965	0.99824	0.94842	0.62518	D	AEFBHCI	0.934120	0.92702	D	0.742588192925991	0.82422	7.758413	0.73252353166188	0.84845	8.407764	0.999999999999965	0.74766	0.732398	0.92422	0	0.588015	0.36545	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.3	5.3	0.74745	7.304000	0.78201	7.708000	0.66649	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.836000	0.39433	0.0:1.0:0.0:0.0	19.333	0.94287	680	0.59965	.;.;.;.;.	.	.	.	.	.	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	1409.98	33	chr15	73283089	.	C	T	1409.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.56;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.69;ReadPosRankSum=1.01;SOR=0.620	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1424,0,1189	20	0	1	0
chr15	75228914	75228914	C	T	exonic	LOC105376731	.	nonsynonymous SNV	LOC105376731:NM_001321990:exon3:c.G178A:p.V60I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.361e-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	0.02381	1164.98	34	chr15	75228914	.	C	T	1164.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.803;DP=812;ExcessHet=0.0000;FS=2.805;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.80;ReadPosRankSum=0.127;SOR=1.096	GT:AD:DP:GQ:PL	0/1:49,42:91:99:1179,0,1392	20	0	1	0
chr15	82282298	82282298	T	G	exonic	SAXO2	.	nonsynonymous SNV	SAXO2:NM_001348704:exon2:c.T208G:p.F70V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	1.0	D	0.999	D	0.000	D	1.000	D	2.25	M	1.99	T	-0.921	T	0.129	T	0.837	3.339	17.24	3.34	1.751	4.807	12.754	0.358	0.0140640814227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.133	0.34359	T	1.0	0.90584	D	0.999	0.92359	D	0.000032	0.55875	D	0.071669	0.999952	0.52396	D	.	.	.	1.99	0.21666	T	-4.13	0.75139	D	0.638	0.65074	-0.9213	0.45376	T	0.129	0.43828	T	10	0.78151894	0.77894	D	0.014064	0.33919	T	0.358	0.67872	0.664	0.80199	0.40417439687	0.40030	0.6648960054167538	0.66426	0.528546828788	0.50433	0.571922659874	0.48950	T	0.347323	0.71546	T	0.167437	0.70887	D	0.00273504	0.70513	D	0.997172057628632	0.90938	D	0.69643	0.30590	T	0.6054719	0.72985	0.54754156	0.73843	0.6054719	0.72986	0.54754156	0.73844	-9.174	0.68810	D	.	.	0.293	0.52451	B	.	.	4.091771	0.60950	24.3	0.98999594610067299	0.50127	0.86008	0.45212	D	AEFGBCI	0.602310	0.59422	D	0.44255478903636	0.63780	4.618664	0.316426336314	0.56504	3.813887	0.999941356689287	0.47345	0.422189	0.06491	0	0.600433	0.49495	0	0.491513	0.07944	0	0.530356	0.10902	0	.	.	3.34	3.34	0.37357	4.789000	0.62139	7.386000	0.58483	0.488000	0.22294	1.000000	0.71638	1.000000	0.68203	0.791000	0.37352	0.0:0.0:0.0:1.0	12.754	0.56699	821	0.40814	.	.	.	.	.	.	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	4066.98	34	chr15	82282298	.	T	G	4066.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.600e-01;DP=1036;ExcessHet=0.0000;FS=0.452;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.71;MQRankSum=1.14;QD=15.41;ReadPosRankSum=1.32;SOR=0.746	GT:AD:DP:GQ:PL	0/1:116,148:264:99:4081,0,3054	20	0	1	0
chr15	83870880	83870880	C	A	exonic	ADAMTSL3	.	nonsynonymous SNV	ADAMTSL3:NM_001301110:exon9:c.C881A:p.T294K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.931	D	0.024	N	0.822	D	3.185	M	-0.49	T	0.450	D	0.566	D	0.656	2.505	14.34	3.73	0.877	3.780	12.655	0.548	0.0527693328966	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.50132	D	0.013	0.63109	D	0.995	0.67487	D	0.769	0.66596	P	0.024192	0.26306	N	0.392280	0.821746	0.34786	D	3.535	0.93119	H	-0.49	0.71187	T	-1.91	0.45222	N	0.854	0.85027	0.450	0.89826	D	0.566	0.84262	D	10	0.81394446	0.80652	D	0.052769	0.65201	D	0.548	0.81252	0.585	0.71245	0.807161798267	0.80535	0.8675735186642823	0.86722	0.461491415329	0.45687	0.689081907272	0.65575	T	0.187035	0.54052	T	0.121052	0.66476	D	-0.0638939	0.66058	T	0.952672600746155	0.63847	D	0.827917	0.54241	T	0.18474096	0.39803	0.23265421	0.48432	0.18474096	0.39803	0.23265421	0.48431	-11.313	0.81347	D	.	.	0.907	0.83217	P	.;.	.;.	4.126558	0.61718	24.4	0.98243048380207787	0.39503	0.83710	0.42810	D	AEFBI	0.407986	0.47985	N	0.440995504110438	0.63694	4.608159	0.302994385313629	0.55714	3.734379	0.0483940756526903	0.14767	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.69	3.73	0.41982	3.722000	0.54675	5.772000	0.49749	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.6813:0.3187:0.0	12.655	0.56147	357	0.85079	.;.	.	.	.	.	.	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	1069.98	40	chr15	83870880	.	C	A	1069.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.03;DP=922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.63;ReadPosRankSum=-1.800e-02;SOR=0.622	GT:AD:DP:GQ:PL	0/1:78,46:124:99:1084,0,2061	20	0	1	0
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	0/2:107,0,36:143:99:.:.:970,1466,6673,0,4125,3785	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	1/1:0,116,0:116:99:4007,348,0,4007,348,4007	0	11	9	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	2/2:0,0,50:50:99:.:.:2161,2161,2161,152,152,0	0	0	0	0
chr15	99712514	99712519	CAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1033_1038del:p.Q351_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:52,59,0,0:111:99:2227,0,1955,2384,2134,4517,2384,2134,4517,4517	8	2	8	0
chr15	99712505	99712519	CAGCAGCAGCAGCAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1024_1038del:p.Q348_Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	3207195	MEF2A-related_disorder	.	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0051	.	0.0163	0.0020	0.0084	0	0.0006	0.0040	0.0093	0.0378	0.0001537	4	26028	rs748617871	0.0057	0.0054	0.0048	0.0066	0.0328	0.0056	0.0056	0.0318	0.0313	0.0011	0.0209	0.0009	0.0019	0.0015	0.0269	0.0036	0.0059	0.0328	0.0056	0.0056	0.0050	0.0061	0.0227	0.0052	0.0051	0.0192	0.0179	0.0014	0	0.0195	0.0003	0.0010	0.0019	0.0510	0.0048	0.0072	0.0227	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:52,59,0,0:111:99:2227,0,1955,2384,2134,4517,2384,2134,4517,4517	8	2	8	0
chr15	99712517	99712519	CAG	-	exonic	MEF2A	.	nonframeshift deletion	MEF2A:NM_001130928:exon8:c.1036_1038del:p.Q352del	.	.	0	60	66	37	63	203	0.538462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	25897.93	76	chr15	99712504	.	CCAGCAGCAGCAGCAG	CCAGCAGCAG,C,CCAGCAGCAGCAG	25897.93	.	AC=12,1,3;AF=0.286,0.024,0.071;AN=42;BaseQRankSum=-6.810e-01;DP=1837;ExcessHet=1.5101;FS=3.269;InbreedingCoeff=-0.0096;MLEAC=12,1,3;MLEAF=0.286,0.024,0.071;MQ=60.00;MQRankSum=0.00;QD=22.78;ReadPosRankSum=0.134;SOR=0.795	GT:AD:DP:GQ:PL	0/1:52,59,0,0:111:99:2227,0,1955,2384,2134,4517,2384,2134,4517,4517	8	2	8	0
chr15	99712688	99712688	A	G	exonic	MEF2A	.	nonsynonymous SNV	MEF2A:NM_001130928:exon8:c.A1207G:p.I403V	.	.	419	1101	2	0	0	2	0.000907441	.	.	714707	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.42	T	0.0	B	0.002	B	0.071	N	1.000	N	0.41	N	0.32	T	-1.042	T	0.061	T	0.102	0.157	4.843	-4.02	-0.584	0.506	11.064	0.052	0.00702000094738	0.0043	0.00139776	0.0062	0.0051	0.0034	0.0012	0.0011	0.0095	0.0036	0.0033	0.0030077	465	154602	rs111748677	0.0058	0.0057	0.0059	0.0057	0.0069	0.0057	0.0057	0.0067	0.0067	0.0022	0.0011	0.0015	0.0001	0.0012	0.0014	0.0069	0.0052	0.0028	0.0036	0.0036	0.0038	0.0034	0.0058	0.0033	0.0032	0.0054	0.0052	0.0023	0.0121	0.0012	0.0003	0.0004	0.0004	0	0.0058	0.0005	0.0031	0.4	0.10482	T	0.697	0.05786	T	0.0	0.02946	B	0.002	0.06944	B	0.070929	0.21506	N	0.529831	1	0.08975	N	.	.	.	0.32	0.58468	T	-0.25	0.11008	N	0.016	0.00527	-1.0419	0.16741	T	0.061	0.25528	T	10	0.004247755	0.00085	T	0.00702	0.18594	T	0.052	0.14661	.	.	0.043077524339	0.03247	0.0719145315618752	0.07128	0.0589115962734	0.06543	0.25978192687	0.04865	T	.	.	.	-0.553456	0.00278	T	-0.563632	0.16036	T	0.00261757542921764	0.00027	T	0.861714	0.57103	D	.	.	.	.	.	.	.	.	-1.47	0.02959	T	.	.	0.050	0.00175	B	.;.;.;.;.;.	.;.;.;.;.;.	0.328861	0.07030	3.591	0.69050478693779871	0.08849	0.08095	0.14065	N	AEFDBHI	0.051521	0.09111	N	-1.31299398835606	0.03525	0.1576385	-1.27743525972041	0.04736	0.2241311	0.999966042876436	0.48965	0.77792	0.99625	0	0.702456	0.74545	0	0.854111	0.99894	0	0.714379	0.83352	0	.	.	5.97	-4.02	0.03764	0.523000	0.22632	-0.136000	0.11567	-0.566000	0.04804	0.074000	0.22182	0.000000	0.08366	0.914000	0.44937	0.3463:0.1087:0.5451:0.0	11.064	0.47182	728	0.54609	.;.;.;.;.;.	.	.	.	.	.	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	1008.98	47	chr15	99712688	.	A	G	1008.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.310e+00;DP=918;ExcessHet=0.0000;FS=2.501;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.93;ReadPosRankSum=0.974;SOR=1.003	GT:AD:DP:GQ:PL	0/1:68,45:113:99:1023,0,1841	20	0	1	0
chr15	100155297	100155297	T	C	exonic	ADAMTS17	.	nonsynonymous SNV	ADAMTS17:NM_139057:exon9:c.A1205G:p.D402G,	Weill-Marchesani-like syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.957	D	0.794	P	0.000	D	1.000	D	1.01	L	-2.36	D	0.232	D	0.656	D	0.412	4.615	25.2	5.38	2.014	7.199	15.389	0.578	0.145872281127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.032	0.53426	D	0.722	0.42387	P	0.432	0.45448	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.4	0.35362	L	-2.36	0.88143	D	-3.33	0.66206	D	0.793	0.78927	0.232	0.86444	D	0.656	0.88046	D	10	0.8096452	0.80263	D	0.145872	0.82803	D	0.578	0.82968	0.495	0.58363	0.929028814351	0.92829	0.7127895700829013	0.71220	0.471285008066	0.46396	0.685898780823	0.65115	T	0.167889	0.51469	T	0.0879301	0.62955	D	-0.111471	0.62494	T	0.992382109165192	0.82850	D	0.783622	0.42065	T	0.5159761	0.68028	0.48041055	0.69908	0.5159761	0.68029	0.48041055	0.69908	-5.562	0.42444	T	.	.	0.550	0.66790	A	.	.	3.760620	0.53956	23.4	0.99837479127836082	0.91800	0.96357	0.68743	D	AEFDBI	0.878318	0.80350	D	0.385347130836709	0.60628	4.253767	0.451866582730141	0.64837	4.748256	0.999999979339677	0.74766	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.38	5.38	0.77279	7.183000	0.77236	6.196000	0.54830	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.0:0.0:0.0:1.0	15.389	0.74446	802	0.44336	Peptidase M12B, ADAM/reprolysin|Peptidase M12B, ADAM/reprolysin	.	.	.	.	.	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	1440.98	38	chr15	100155297	.	T	C	1440.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.750;DP=895;ExcessHet=0.0000;FS=1.591;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-2.233e+00;SOR=0.911	GT:AD:DP:GQ:PL	0/1:51,55:106:99:1455,0,1256	20	0	1	0
chr16	189983	189983	C	G	exonic	LUC7L	.	nonsynonymous SNV	LUC7L:NM_001320226:exon9:c.G959C:p.R320P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.335	B	0.105	B	0.000	D	1.000	D	2.14	M	2.94	T	-0.861	T	0.164	T	0.551	2.806	15.34	3.11	0.508	2.998	13.021	0.117	0.030104165929	.	.	8.335e-06	0	0	0	0	0	0	6.343e-05	6.5e-06	1	154602	rs780398781	6.848e-07	6.84e-07	0	1.377e-06	1.16e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.79402	D	0.335	0.33330	B	0.105	0.31087	B	0.000013	0.62929	D	0.106561	0.999843	0.49770	D	2.015	0.55033	M	0.65	0.54347	T	-2.47	0.67589	N	0.544	0.65844	-0.8610	0.51191	T	0.164	0.50045	T	10	0.21879813	0.38531	T	0.030104	0.52487	D	0.117	0.32689	0.231	0.15855	0.737490428759	0.73514	0.22071708640825613	0.21986	0.817525153151	0.67007	0.408349990845	0.26229	T	0.393155	0.75264	T	-0.0780396	0.40032	T	-0.249245	0.49890	T	0.687424626906566	0.40129	D	0.868313	0.67748	D	0.50523984	0.67401	0.6581045	0.79976	0.50523984	0.67402	0.6581045	0.79976	-6.423	0.49688	T	.	.	0.159	0.51014	B	.;.;.;.;.	.;.;.;.;.	4.196899	0.63305	24.6	0.98996803961350044	0.50065	0.97839	0.77515	D	AEFGBI	0.726737	0.67531	D	0.0192279492437213	0.42730	2.580107	0.0859468808292768	0.43841	2.677548	0.995695526595822	0.34271	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.15	3.11	0.34883	3.173000	0.50540	1.767000	0.28601	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2941:0.7059:0.0:0.0	13.021	0.58190	825	0.40060	.;.;.;.;.	.	.	.	.	.	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	658.98	34	chr16	189983	.	C	G	658.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=749;ExcessHet=0.0000;FS=0.994;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.98;ReadPosRankSum=1.03;SOR=0.619	GT:AD:DP:GQ:PL	0/1:33,27:60:99:673,0,771	20	0	1	0
chr16	259525	259525	G	A	exonic	FAM234A	.	nonsynonymous SNV	FAM234A:NM_001284497:exon4:c.G311A:p.R104K	.	.	427	1070	25	0	0	25	0.0115473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.001	B	0.076	N	0.998	N	0.3	N	0.56	T	-0.997	T	0.040	T	0.166	-0.338	2.399	-2.97	-0.200	0.092	7.535	0.016	0.00672025547804	0.0026	0.00299521	0.0038	0.0002	0.0015	0	0.0032	0.0042	0.0056	0.0078	0.0035446	548	154602	rs111339986	0.0034	0.0034	0.0030	0.0037	0.0081	0.0033	0.0032	0.0076	0.0074	0.0004	0.0014	0.0107	0	0.0021	0.0057	0.0031	0.0044	0.0081	0.0026	0.0026	0.0023	0.0028	0.0079	0.0024	0.0023	0.0059	0.0052	0.0006	0	0.0011	0.0124	0	0.0026	0.0034	0.0034	0.0033	0.0079	1.0	0.00964	T	1.0	0.02632	T	0.001	0.07471	B	0.001	0.04355	B	0.076338	0.21169	N	0.529473	0.998031	0.22385	N	.	.	.	0.56	0.54540	T	0.42	0.03352	N	0.136	0.13484	-0.9974	0.30646	T	0.040	0.17319	T	10	0.0065513253	0.00148	T	0.00672	0.17756	T	0.032	0.07718	.	.	0.190952846119	0.18690	0.6941718200402318	0.69358	0.132247561378	0.14905	0.259903490543	0.04880	T	0.028335	0.20549	T	-0.539553	0.00337	T	-0.541268	0.18172	T	0.00414213613300951	0.00044	T	0.547145	0.25265	T	0.022811828	0.00971	0.03151409	0.01751	0.022811828	0.00970	0.03151409	0.01751	-2.508	0.05836	T	.	.	0.08	0.11989	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.325254	0.06995	3.551	0.81296480262568094	0.13615	0.39395	0.26203	N	AEFDGBHCI	0.075816	0.15237	N	-1.03158616031932	0.07953	0.3712729	-0.909742077689428	0.11864	0.6070143	0.999992181554563	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.35	-2.97	0.05195	0.152000	0.16120	-0.222000	0.10754	-0.106000	0.15538	0.986000	0.36153	0.026000	0.21063	0.773000	0.36634	0.6193:0.133:0.2477:0.0	7.535	0.26873	754	0.51307	.;.;.;.;.;.;.;.	.	.	.	.	rs111339986	Likely benign	0	0	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	1011.98	33	chr16	259525	.	G	A	1011.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.007e+00;DP=769;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.81;ReadPosRankSum=-1.174e+00;SOR=0.627	GT:AD:DP:GQ:PL	0/1:34,45:79:99:1026,0,883	20	0	1	0
chr16	632654	632654	G	A	exonic	WFIKKN1	.	nonsynonymous SNV	WFIKKN1:NM_053284:exon2:c.G244A:p.G82S,	.	.	.	.	.	.	.	.	.	.	.	2334226	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.998	D	0.648	P	0.394	N	1.000	N	1.87	L	-0.39	T	-0.816	T	0.262	T	0.158	2.253	13.49	-0.020	-0.114	2.161	6.748	0.169	0.0401372448942	7.7e-05	.	0.0003	0	0	0	0	0.0005	0	0	0.0001811	28	154602	rs149287908	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	3.392e-05	3.055e-05	0	0	0.0066	0	0	0.0002	4.431e-05	0.0004	3.536e-05	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	9.699e-05	1.972e-05	1.124e-05	0	0	6.539e-05	0.0055	0.0002	0	0	5.88e-05	0	0	0.524	0.07163	T	0.045	0.49390	D	0.998	0.73220	D	0.648	0.52381	P	0.393671	0.13220	N	0.726188	1	0.08975	N	1.81	0.47622	L	-0.39	0.69158	T	-0.46	0.14978	N	0.189	0.20660	-0.8162	0.54171	T	0.262	0.63339	T	10	0.0061183274	0.00138	T	0.040137	0.59207	D	0.169	0.43123	.	.	0.63470690541	0.63171	0.28657738923385484	0.28570	0.115736447682	0.13058	0.354617297649	0.18600	T	0.022598	0.17395	T	-0.270359	0.11717	T	-0.410793	0.32133	T	0.0353169688786567	0.02862	T	0.494351	0.15306	T	0.030265234	0.02661	0.03167251	0.01790	0.030265234	0.02660	0.03167251	0.01789	-2.714	0.07421	T	.	.	0.082	0.08948	B	.	.	1.697216	0.21620	15.28	0.99433707424359463	0.64374	0.20353	0.21009	N	AEFDBCI	0.201585	0.32824	N	-0.361565248090857	0.26849	1.468544	-0.586728788458854	0.19839	1.066218	0.999997594067599	0.74766	0.634777	0.41761	0	0.550933	0.16991	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	4.4	-0.0204	0.13281	1.922000	0.39675	0.097000	0.14596	0.522000	0.23927	0.021000	0.19753	0.000000	0.08366	0.006000	0.07323	0.1743:0.2036:0.6221:0.0	6.748	0.22661	649	0.63102	.	.	.	.	.	.	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	827.98	39	chr16	632654	.	G	A	827.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.381e+00;DP=829;ExcessHet=0.0000;FS=3.066;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.75;ReadPosRankSum=-2.900e-01;SOR=0.406	GT:AD:DP:GQ:PL	0/1:39,38:77:99:842,0,932	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	1|2:1,16,15:32:99:1|0:1397263_TCCCCGTGCTTCACACTGGGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCGCCCCCCAC_T:1932,566,455,731,0,617:1397263	1	6	3	5
chr16	2114559	2114559	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon11:c.G2464A:p.A822T	Polycystic kidney disease, adult type I, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.722	P	0.287	B	0.389	N	1.000	N	1.87	L	1.34	T	-1.044	T	0.067	T	0.088	0.557	7.012	-0.252	0.014	0.429	4.325	0.053	0.0748859475093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.409	0.10212	T	0.016	0.60972	D	0.722	0.42387	P	0.114	0.40572	B	0.388731	0.13286	N	0.723810	1	0.08975	N	1.995	0.54099	M	1.34	0.34841	T	-0.23	0.11366	N	0.07	0.04307	-1.0439	0.16148	T	0.067	0.27434	T	10	0.13655707	0.25981	T	0.074886	0.72151	D	0.053	0.14996	0.444	0.50139	0.521978482128	0.51842	0.3006481364912225	0.29977	.	.	0.3477845788	0.17595	T	0.157137	0.49961	T	-0.270064	0.11751	T	-0.625705	0.10743	T	0.122270252905686	0.14650	T	0.619338	0.23774	T	0.023080522	0.01018	0.036331713	0.03060	0.023080522	0.01017	0.036331713	0.03059	-4.596	0.32121	T	0.11573912681494407	0.10389	0.072	0.04396	B	.;.	.;.	1.327236	0.17323	13.09	0.96321956305073342	0.29416	0.49194	0.28378	N	AEFBI	0.105466	0.21073	N	-0.648447961284639	0.17506	0.9013843	-0.730508295607726	0.16203	0.856004	0.00680748599464499	0.11313	0.67177	0.52595	0	0.702456	0.74545	0	0.645312	0.48771	0	0.635551	0.53088	0	.	.	5.39	-0.252	0.12357	0.451000	0.21492	-0.763000	0.07527	-0.221000	0.07976	0.037000	0.20830	0.000000	0.08366	0.710000	0.34452	0.2649:0.4086:0.0:0.3266	4.325	0.10478	650	0.62973	Polycystin cation channel;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1583.98	37	chr16	2114559	.	C	T	1583.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.884e+00;DP=812;ExcessHet=0.0000;FS=7.576;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=58.02;MQRankSum=-2.550e-01;QD=14.67;ReadPosRankSum=0.121;SOR=0.539	GT:AD:DP:GQ:PL	0/1:46,62:108:99:1598,0,1190	20	0	1	0
chr16	2210256	2210256	G	A	exonic	BRICD5	.	nonsynonymous SNV	BRICD5:NM_182563:exon3:c.C206T:p.T69I,	.	.	429	1069	22	2	0	26	0.0120148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	T	0.997	D	0.879	P	0.001	D	0.999	N	1.2	L	1.52	T	-1.010	T	0.113	T	0.55	3.406	17.50	3.25	0.684	1.086	13.998	0.100	0.0492965980763	0.0010	0.00219649	0.0039	0.0003	0	0	0	0.0025	0	0.0090	0.0010673	165	154602	rs141543452	0.0010	0.0010	0.0008	0.0011	0.0066	0.0009	0.0009	0.0061	0.0060	0.0002	0.0006	0.0066	0	2.567e-05	0.0064	0.0005	0.0017	0.0066	0.0010	0.0010	0.0010	0.0009	0.0070	0.0008	0.0008	0.0052	0.0045	9.623e-05	0	0.0006	0.0078	0	9.406e-05	0.0068	0.0010	0.0028	0.0070	0.002	0.72154	D	0.003	0.76473	D	0.993	0.70673	D	0.857	0.62418	P	0.000594	0.43095	D	0.194129	0.99933	0.21346	N	2.69	0.78713	M	1.52	0.55090	T	-4.33	0.86073	D	0.554	0.60579	-1.0101	0.26886	T	0.113	0.40445	T	10	0.007837057	0.00178	T	0.049297	0.63750	D	0.100	0.28662	.	.	0.340992353424	0.33714	0.5999177373485299	0.59922	0.00771376137905	0.00687	0.353625118732	0.18454	T	0.212025	0.57296	T	-0.346497	0.04951	T	-0.267466	0.48076	T	0.129633475940984	0.15348	T	0.70163	0.31127	T	0.37083742	0.58647	0.49056876	0.70528	0.37083742	0.58647	0.49056876	0.70528	-4.893	0.35656	T	.	.	0.231	0.54543	B	.;.;.	.;.;.	3.013803	0.40311	21.1	0.99650550323497544	0.77254	0.26358	0.22970	N	AEFBHCI	0.123498	0.23913	N	-0.171665706498783	0.34317	1.957347	-0.31576569438447	0.27590	1.531973	0.999998881120072	0.74766	0.460665	0.09802	0	0.552637	0.17590	0	0.584781	0.30282	0	0.636168	0.56350	0	.	.	5.25	3.25	0.36363	0.829000	0.27102	4.625000	0.44092	0.676000	0.76740	0.082000	0.22389	1.000000	0.68203	0.046000	0.14843	0.0:0.2888:0.7112:0.0	13.998	0.63929	624	0.65661	.;.;.	.	.	.	.	.	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	930.98	34	chr16	2210256	.	G	A	930.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.700e-01;DP=784;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.25;ReadPosRankSum=2.40;SOR=0.670	GT:AD:DP:GQ:PL	0/1:37,39:76:99:945,0,909	20	0	1	0
chr16	2462503	2462503	G	A	exonic	TEDC2	.	nonsynonymous SNV	TEDC2:NM_025108:exon7:c.G839A:p.R280H,	.	.	411	1109	2	0	0	2	0.000900901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.994	D	0.350	N	1.000	N	1.24	L	0.93	T	-0.998	T	0.155	T	0.249	2.042	12.78	1.42	0.119	-0.257	7.097	0.020	0.0170810927594	0.0021	0.00119808	0.0020	0.0007	0.0028	0	0.0029	0.0024	0.0051	0.0012	0.0019534	302	154602	rs11552287	0.0024	0.0024	0.0025	0.0023	0.0053	0.0023	0.0023	0.0038	0.0033	0.0008	0.0018	0.0012	0	0.0024	0.0053	0.0027	0.0019	0.0011	0.0019	0.0019	0.0020	0.0018	0.0027	0.0017	0.0016	0.0022	0.0020	0.0007	0	0.0027	0.0012	0	0.0024	0.0136	0.0025	0.0052	0.0006	0.286	0.26300	T	0.432	0.21210	T	0.194	0.39465	B	0.033	0.28532	B	0.350370	0.13825	N	0.634152	1	0.08975	N	.	.	.	0.93	0.44856	T	-1.03	0.28703	N	0.125	0.14622	-0.9977	0.30563	T	0.155	0.48619	T	10	0.0045146346	0.00093	T	0.017081	0.38630	T	0.020	0.03691	.	.	0.430126000877	0.42631	0.1236480252488061	0.12290	0.153881245274	0.17371	.	.	.	0.014211	0.17791	T	-0.523066	0.00422	T	-0.527803	0.19506	T	0.00335785764622807	0.00035	T	0.762324	0.38756	T	0.031681206	0.03051	0.03232892	0.01950	0.031681206	0.03051	0.03232892	0.01950	-4.917	0.41407	T	.	.	0.093	0.20663	B	.;.;.;.;.;.	.;.;.;.;.;.	2.200274	0.28064	17.67	0.99601870420330418	0.74278	0.02601	0.07169	N	AEFBI	0.062804	0.12096	N	-0.634244052437226	0.17922	0.9263802	-0.761194040747654	0.15447	0.8124844	0.990792268115052	0.32272	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.52	1.42	0.21524	0.082000	0.14697	0.536000	0.19291	0.672000	0.70159	0.000000	0.06391	0.005000	0.19230	0.047000	0.14932	0.3847:0.0:0.6153:0.0	7.097	0.24493	711	0.56613	.;.;.;.;.;.	.	.	.	.	.	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	1359.98	35	chr16	2462503	.	G	A	1359.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.334;DP=922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.00;ReadPosRankSum=0.244;SOR=0.626	GT:AD:DP:GQ:PL	0/1:30,50:80:99:1374,0,686	20	0	1	0
chr16	2530278	2530278	G	A	exonic	AMDHD2	.	nonsynonymous SNV	AMDHD2:NM_001145815:exon11:c.G1304A:p.G435D,	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.031	B	0.039	B	.	.	1.000	N	0	N	0.87	T	-1.027	T	0.051	T	0.264	1.996	12.63	1.24	0.512	1.553	4.890	0.066	0.00692160565385	0.0004	0.000399361	0.0004	0	9.773e-05	0	0	0.0005	0	0.0011	0.0003687	57	154602	rs373215016	0.0003	0.0003	0.0002	0.0003	0.0023	0.0002	0.0002	0.0013	0.0011	2.988e-05	0.0002	0	0	1.888e-05	0.0023	0.0002	0.0003	0.0010	0.0002	0.0002	0.0002	0.0003	0.0006	0.0002	0.0002	0.0003	0.0002	2.406e-05	0	0.0006	0	0	0	0	0.0003	0.0005	0.0006	0.028	0.53172	D	0.0	0.92824	D	0.031	0.20130	B	0.039	0.23607	B	.	.	.	.	1	0.08975	N	.	.	.	0.87	0.46412	T	0.25	0.04456	N	0.389	0.43029	-1.0272	0.21363	T	0.051	0.21767	T	9	0.009433448	0.00213	T	0.006922	0.18317	T	0.066	0.19193	.	.	0.130388298395	0.12655	0.3217843884006797	0.32091	0.0037235386755	0.00321	0.298096954823	0.10118	T	0.102144	0.40957	T	-0.465684	0.00905	T	-0.498047	0.22551	T	0.0179290772020839	0.00519	T	0.253475	0.03884	T	.	.	.	.	.	.	.	.	-5.478	0.41662	T	.	.	0.171	0.37501	B	.;.	.;.	0.292295	0.06685	3.189	0.98914529734920043	0.48436	0.18682	0.20360	N	AEFBCI	0.055435	0.10165	N	-0.987579190928128	0.08868	0.4174778	-1.0361348399945	0.08997	0.4452971	0.987192077968504	0.31207	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	2.21	1.24	0.20416	1.401000	0.34198	1.300000	0.25468	-0.158000	0.11653	0.005000	0.17040	0.015000	0.20450	0.001000	0.02609	0.1789:0.0:0.8211:0.0	4.890	0.13077	759	0.50631	.;.	.	.	.	.	.	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	1539.98	37	chr16	2530278	.	G	A	1539.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.79;DP=843;ExcessHet=0.0000;FS=6.054;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.94;ReadPosRankSum=-1.120e+00;SOR=1.236	GT:AD:DP:GQ:PL	0/1:64,55:119:99:1554,0,1706	20	0	1	0
chr16	2769172	2769174	TCC	-	exonic	SRRM2	.	nonframeshift deletion	SRRM2:NM_016333:exon12:c.7909_7911del:p.S2648del,	.	.	390	1131	1	0	0	1	0.000441891	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0061	.	0.0004	0.0004	0.0008	0.0029	0	0.0001	0	0.0004	0.0001153	3	26028	rs371267963	0.0003	0.0003	0.0003	0.0003	0.0060	0.0003	0.0002	0.0054	0.0052	0.0004	0.0008	3.853e-05	0.0060	0.0001	0	6.85e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0008	0.0006	0.0003	0	0.0007	0.0003	0.0015	0	0	0	0.0009	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1174.94	35	chr16	2769171	.	TTCC	T	1174.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.98;DP=774;ExcessHet=0.0000;FS=0.907;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.03;ReadPosRankSum=-1.678e+00;SOR=0.563	GT:AD:DP:GQ:PL	0/1:37,32:69:99:1189,0,1378	20	0	1	0
chr16	2798500	2798500	G	0	exonic	PRSS41	.	.	.	.	.	406	1042	59	5	10	79	0.0320483	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	451.16	15	chr16	2798500	.	G	T,*	451.16	.	AC=1,2;AF=0.024,0.048;AN=42;BaseQRankSum=1.05;DP=364;ExcessHet=0.0000;FS=1.494;InbreedingCoeff=0.6325;MLEAC=1,2;MLEAF=0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=10.49;ReadPosRankSum=0.218;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,12,0:25:99:0|1:2798500_G_T:465,0,510,504,546,1050:2798500	19	0	1	0
chr16	2821451	2821451	G	A	exonic	PRSS21	.	nonsynonymous SNV	PRSS21:NM_006799:exon6:c.G791A:p.R264Q	.	.	420	1094	8	0	0	8	0.00364299	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.53	T	0.989	D	0.689	P	.	.	1.000	N	0.745	N	-2.4	D	-0.789	T	0.063	T	0.369	2.414	14.03	0.488	0.318	-1.430	5.524	0.369	.	0.0011	0.0209665	0.0178	0.0012	0.1286	0.0626	0	0.0008	0.0122	0.0034	0.0161706	2500	154602	rs2072273	0.0066	0.0066	0.0071	0.0060	0.1101	0.0065	0.0064	0.1076	0.1065	0.0010	0.1101	0.0043	0.0880	1.872e-05	0.0016	0.0004	0.0055	0.0034	0.0082	0.0082	0.0077	0.0087	0.0559	0.0078	0.0077	0.0506	0.0485	0.0010	0	0.0518	0.0069	0.0559	9.416e-05	0	0.0008	0.0104	0.0058	0.292	0.20683	T	0.219	0.25987	T	0.971	0.62824	D	0.481	0.53736	P	.	.	.	.	1	0.08975	N	0.895	0.22405	L	-2.4	0.88455	D	-2.5	0.54382	D	0.132	0.12770	-0.7889	0.55794	T	0.063	0.26314	T	9	0.0019930005	0.00028	T	.	.	.	0.369	0.68844	.	.	.	.	0.34292438603151093	0.34205	0.0864368177817	0.09759	0.244944602251	0.03254	T	0.173279	0.52209	T	-0.408185	0.02044	T	-0.262389	0.48586	T	0.0361902739389582	0.03015	T	.	.	.	0.22015241	0.44564	0.18178254	0.41063	0.22015241	0.44563	0.18178254	0.41062	-6.876	0.66053	T	.	.	0.225	0.45653	B	.;.	.;.	2.428422	0.31237	18.68	0.99824493017901905	0.90677	0.07334	0.13355	N	AEFDGBHCI	0.121327	0.23593	N	-0.570330665033572	0.19850	1.042154	-0.707363295763004	0.16778	0.8891234	0.990218191330153	0.32077	0.634777	0.41761	0	0.643519	0.57511	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.96	0.488	0.16056	-3.522000	0.00494	-1.791000	0.04719	0.663000	0.56723	0.000000	0.06391	0.000000	0.08366	0.971000	0.54645	0.0983:0.0:0.3912:0.5105	5.524	0.16237	533	0.73433	.;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	2088.98	34	chr16	2821451	.	G	A	2088.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=1018;ExcessHet=0.0000;FS=2.775;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.22;ReadPosRankSum=0.209;SOR=0.511	GT:AD:DP:GQ:PL	0/1:78,80:158:99:2103,0,1893	20	0	1	0
chr16	4903923	4903923	G	T	exonic	PPL	.	nonsynonymous SNV	PPL:NM_002705:exon3:c.C280A:p.H94N,	.	.	422	1098	2	0	0	2	0.000909918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.842	P	0.321	B	0.000	D	0.998	D	1.79	L	-0.31	T	-0.630	T	0.265	T	0.183	4.513	24.3	5.28	2.454	9.344	18.906	0.140	0.0919524276787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1276560823	2.736e-06	2.736e-06	0	5.501e-06	3.478e-05	6.4e-07	4.3e-07	9.24e-06	4.56e-06	0	0	0	0	0	0	0	1.656e-05	3.478e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.47320	D	0.099	0.38891	T	0.842	0.46562	P	0.321	0.41760	B	0.000143	0.49130	D	0.183709	0.997685	0.44098	D	1.79	0.46772	L	-0.31	0.68030	T	-1.13	0.29114	N	0.525	0.57263	-0.6303	0.63558	T	0.265	0.63588	T	10	0.39547637	0.55194	T	0.091952	0.75801	D	0.140	0.37593	0.267	0.21418	0.858951703902	0.85758	0.21595723851428936	0.21511	0.026477229634	0.02702	0.623542070389	0.56230	T	0.155797	0.49769	T	-0.115221	0.33908	T	-0.306429	0.44042	T	0.790841102600098	0.45745	D	0.841416	0.51702	T	0.20279698	0.42337	0.1932037	0.42876	0.20279698	0.42337	0.1932037	0.42875	-1.382	0.01539	T	.	.	0.143	0.32756	B	.;.;.	.;.;.	4.086013	0.60819	24.3	0.9901189593430143	0.50377	0.99608	0.97942	D	AEFBI	0.948083	0.95933	D	0.487868615871688	0.66380	4.94266	0.547514082271286	0.71224	5.622379	0.999999981427516	0.74766	0.695654	0.57023	0	0.573888	0.26702	0	0.723109	0.80598	0	0.613276	0.41899	0	.	.	5.28	5.28	0.74118	9.477000	0.96864	11.770000	0.95838	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.908000	0.44358	0.0:0.0:1.0:0.0	18.906	0.92434	453	0.79178	.;.;.	.	.	.	.	.	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	1721.98	40	chr16	4903923	.	G	T	1721.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.075e+00;DP=833;ExcessHet=0.0000;FS=2.346;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.59;ReadPosRankSum=2.36;SOR=0.501	GT:AD:DP:GQ:PL	0/1:56,62:118:99:1736,0,1537	20	0	1	0
chr16	8570005	8570005	G	A	exonic	TMEM114	.	nonsynonymous SNV	TMEM114:NM_001290095:exon3:c.C302T:p.T101I	.	.	0	1451	65	6	0	77	0.0258476	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.995	D	0.946	D	.	.	.	.	2.28	M	.	.	-0.148	T	0.344	T	0.217	2.821	15.40	4.79	2.214	4.712	16.824	0.202	.	0.0046	0.00319489	0.0074	0.0008	0	0	0	0.0076	0	0.0094	0.0016753	259	154602	rs141472774	0.0055	0.0053	0.0055	0.0056	0.0173	0.0054	0.0054	0.0145	0.0135	0.0010	0.0021	0.0107	0	0.0025	0.0173	0.0057	0.0064	0.0078	0.0040	0.0040	0.0042	0.0038	0.0070	0.0037	0.0036	0.0055	0.0053	0.0011	0	0.0032	0.0092	0	0.0018	0.0272	0.0060	0.0066	0.0070	.	.	.	0.045	0.49390	D	0.995	0.67487	D	0.946	0.68276	D	.	.	.	.	.	.	.	2.48	0.72069	M	.	.	.	.	.	.	0.679	0.71232	-0.1479	0.78967	T	0.344	0.70923	T	7	0.00557217	0.00123	T	.	.	.	.	.	.	.	0.0806252709748	0.07271	0.6843745277395868	0.68376	.	.	0.504805743694	0.39498	T	0.032189	0.22378	T	-0.428688	0.01509	T	-0.382725	0.35404	T	0.0273435216915867	0.01593	T	0.880312	0.59828	D	0.13088708	0.30526	0.33624232	0.59429	0.13088708	0.30526	0.33624232	0.59428	-9.664	0.71876	D	.	.	0.557	0.67085	A	.;.	.;.	5.037345	0.83818	28.1	0.99843652617835343	0.92403	0.89397	0.49837	D	AEFDBI	0.651891	0.62548	D	0.588833658082171	0.72476	5.81192	0.514427979412752	0.68961	5.292708	0.999999802251422	0.74766	0.50284	0.20314	0	0.547309	0.14657	0	0.338622	0.05889	2	0.530356	0.10902	0	.	.	4.79	4.79	0.60909	4.990000	0.63609	9.440000	0.80826	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.413000	0.27073	0.0:0.0:1.0:0.0	16.824	0.85791	981	0.03995	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	360.98	34	chr16	8570005	.	G	A	360.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.220e-01;DP=720;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.03;ReadPosRankSum=-3.950e-01;SOR=0.754	GT:AD:DP:GQ:PL	0/1:16,14:30:99:375,0,463	20	0	1	0
chr16	11446584	11446584	G	A	exonic	LOC400499	.	nonsynonymous SNV	LOC400499:NM_001370704:exon33:c.C4802T:p.T1601I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	T	.	.	.	.	0.065	U	1.000	N	0	N	3.03	T	-0.984	T	0.013	T	0.066	-1.056	0.188	1.24	0.002	1.600	5.284	0.027	0.00526754202668	.	0.000199681	0.0002	0	0.0054	0	0	0.0003	0	0.0001	2.59e-05	4	154602	rs537185140	3.758e-05	3.557e-05	3.281e-05	4.247e-05	0.0003	2.918e-05	2.642e-05	0.0002	0.0001	0	2.801e-05	0	0	5.9e-05	0.0002	2.503e-05	0	0.0003	4.596e-05	4.593e-05	2.569e-05	6.716e-05	0.0002	2.108e-05	1.526e-05	2.846e-05	1.858e-05	0	0	0	0	0	9.423e-05	0	7.35e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	0.065305	0.02188	U	2.335370	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	-0.9839	0.34093	T	0.013	0.05033	T	8	0.005785644	0.00129	T	0.005268	0.13464	T	.	.	.	.	0.0666544352282	0.05500	.	.	.	.	.	.	.	.	.	.	-0.562779	0.00244	T	-0.74304	0.03764	T	0.0180110806793694	0.00525	T	0.387561	0.09552	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.31177	B	.	.	0.520351	0.08890	5.671	0.73459747732101877	0.10336	0.00020	0.00220	N	AEFDBI	0.014596	0.00239	N	-0.930213102921785	0.10140	0.4831859	-1.0236561717389	0.09266	0.4600096	0.0190743269459416	0.13125	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.58	1.24	0.20416	1.805000	0.38520	1.412000	0.26289	-0.223000	0.07921	0.132000	0.23378	0.044000	0.21668	0.456000	0.28029	0.7236:0.0:0.2764:0.0	5.284	0.15002	939	0.14249	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	935.98	33	chr16	11446584	.	G	A	935.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.825e+00;DP=811;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.86;ReadPosRankSum=-6.870e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:24,39:63:99:950,0,637	20	0	1	0
chr16	11767518	11767518	A	G	exonic	ZC3H7A	.	nonsynonymous SNV	ZC3H7A:NM_014153:exon13:c.T1421C:p.I474T,	.	.	595	921	5	1	0	7	0.00378583	.	.	2323525	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.929	P	0.493	P	0.002	N	1.000	D	1.655	L	2.54	T	-1.170	T	0.047	T	0.541	2.787	15.28	5.77	2.204	3.501	15.276	0.133	0.0114031480261	0.0007	0.000599042	0.0007	9.768e-05	0	0	0.0002	0.0010	0	0.0009	0.0006404	99	154602	rs145528953	0.0006	0.0006	0.0005	0.0006	0.0019	0.0006	0.0005	0.0011	0.0008	5.984e-05	6.726e-05	0.0056	0	1.874e-05	0.0019	0.0005	0.0006	0.0010	0.0008	0.0008	0.0009	0.0008	0.0007	0.0007	0.0007	0.0006	0.0005	9.622e-05	0.0592	0.0001	0.0035	0	0	0	0.0007	0	0.0006	0.04	0.42199	D	0.188	0.28669	T	0.135	0.27304	B	0.031	0.21939	B	0.002389	0.36650	N	0.327928	0.997775	0.44180	D	1.84	0.48285	L	2.54	0.57880	T	-3.43	0.67359	D	0.591	0.61511	-1.1702	0.00535	T	0.047	0.20037	T	10	0.008819103	0.00200	T	0.011403	0.28987	T	0.133	0.36157	.	.	0.128874641272	0.12493	0.7465639685345082	0.74602	0.664222400099	0.59062	0.704255223274	0.67760	T	0.223419	0.58756	T	-0.28566	0.10077	T	-0.250584	0.49759	T	0.0474022842565546	0.05037	T	0.877412	0.59112	D	0.2526246	0.48279	0.2866794	0.54677	0.2526246	0.48279	0.2866794	0.54676	-7.994	0.61030	D	.	.	0.374	0.72409	A	.;.;.;.	.;.;.;.	2.928380	0.38899	20.8	0.99548217722503285	0.70961	0.95251	0.64000	D	AEBI	0.194575	0.32165	N	0.245544244818813	0.53418	3.510811	0.356093521484394	0.58875	4.060979	0.998989603906808	0.38135	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.77	5.77	0.91077	3.491000	0.53015	8.055000	0.76373	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.276	0.73445	701	0.57775	.;.;.;.	.	.	.	.	.	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	1321.98	41	chr16	11767518	.	A	G	1321.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.12;DP=853;ExcessHet=0.0000;FS=1.571;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=-7.200e-01;SOR=0.902	GT:AD:DP:GQ:PL	0/1:54,53:107:99:1336,0,1272	20	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|2:0,113,50:163:99:1|0:11927441_GTTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGGTGA_G:5176,2029,2140,3405,0,4473:11927441	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	0/1:93,44:169:52:52,0,1566	1	0	20	0
chr16	15608289	15608289	A	C	splicing	MARF1	NM_014647:exon21:c.4182+2T>G;NM_001184999:exon21:c.4173+2T>G;NM_001184998:exon21:c.4182+2T>G	.	.	.	.	.	.	.	.	.	.	.	0.9999	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.737	15.11	5.87	2.244	8.594	16.269	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.013e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.62e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.226396	0.76381	D	0.0874256	0.76073	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.	.;.;.;.	4.880593	0.80035	27.2	0.99249930435919897	0.56825	0.93745	0.59070	D	AEFGBCI	.	.	.	1.1020985799721	0.98172	17.59691	0.939101774359612	0.97063	15.53408	0.999999999994994	0.74766	0.295142	0.05270	0	0.30413	0.05452	0	0.128073	0.03558	0	0.117559	0.03655	0	0.970338	0.72592	5.87	5.87	0.94266	8.582000	0.90577	11.196000	0.88846	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.154000	0.20445	1.0:0.0:0.0:0.0	16.269	0.82430	668	0.61153	.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09091	163.63	64	chr16	15608289	.	A	C	163.63	.	AC=2;AF=0.091;AN=22;BaseQRankSum=-1.574e+00;DP=1100;ExcessHet=0.1072;FS=56.234;InbreedingCoeff=-0.2008;MLEAC=3;MLEAF=0.136;MQ=60.00;MQRankSum=0.00;QD=1.50;ReadPosRankSum=3.25;SOR=6.024	GT:AD:DP:GQ:PL	0/1:37,13:50:99:111,0,932	9	0	2	10
chr16	20965411	20965411	C	A	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon53:c.G8335T:p.D2779Y	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.998	D	0.000	D	1.000	D	3.6	H	-1.51	D	0.753	D	0.781	D	0.91	3.350	17.28	5.76	2.739	7.794	19.977	0.799	0.300635223957	.	.	1.829e-05	0	0	0	0	3.149e-05	0	0	1.29e-05	2	154602	rs750816736	7.314e-06	6.84e-06	5.733e-06	8.961e-06	0.0004	3.7e-06	2.7e-06	6.801e-05	2.847e-05	0	0	0	0	0	0.0004	6.565e-06	0	1.425e-05	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	0.0	0.91255	D	.	.	.	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.085	0.97236	H	-1.51	0.81399	D	-8.65	0.97547	D	0.901	0.90138	0.753	0.93827	D	0.781	0.92551	D	10	0.8893678	0.88275	D	0.300635	0.90870	D	0.799	0.93425	0.451	0.51285	0.474248596982	0.47055	0.6295028769481228	0.62884	0.54243724282	0.51356	0.79153072834	0.80676	T	0.686701	0.90853	D	0.310183	0.83759	D	0.389308	0.91756	D	0.994033992290497	0.85101	D	0.99525	0.98380	D	0.93372864	0.94611	0.9559031	0.98745	0.93372864	0.94612	0.9559031	0.98746	-13.452	0.91139	D	.	.	0.81	0.77754	P	.	.	4.488781	0.70096	25.5	0.9949085065438783	0.67460	0.98863	0.87857	D	AEFBI	0.928768	0.91348	D	0.977972064356615	0.95028	13.24454	0.901000714887218	0.95615	13.79467	0.999999999979402	0.74766	0.553676	0.25195	0	0.547309	0.14657	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.76	5.76	0.90726	7.905000	0.86479	7.699000	0.66186	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:1.0:0.0:0.0	19.977	0.97313	316	0.87161	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	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	1233.98	35	chr16	20965411	.	C	A	1233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.569e+00;DP=867;ExcessHet=0.0000;FS=4.953;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.87;ReadPosRankSum=0.036;SOR=0.343	GT:AD:DP:GQ:PL	0/1:53,51:104:99:1248,0,1365	20	0	1	0
chr16	20969981	20969981	C	G	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon52:c.G8131C:p.E2711Q	.	.	429	1086	6	1	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	1.0	D	0.987	D	0.000	D	1.000	D	1.825	L	-1.05	T	-0.143	T	0.579	D	0.52	4.321	22.7	5.84	2.788	7.380	20.201	0.318	0.097549837499	0.0009	0.000599042	0.0010	0	0.0021	0	0	0.0011	0.0011	0.0018	0.0009444	146	154602	rs34223805	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0013	0.0020	0.0019	0.0002	0.0015	7.652e-05	0	0.0001	0.0016	0.0015	0.0016	0.0023	0.0008	0.0008	0.0009	0.0006	0.0021	0.0006	0.0006	0.0011	0.0009	0.0003	0	0.0006	0.0003	0	9.42e-05	0	0.0012	0.0005	0.0021	0.006	0.61437	D	.	.	.	1.0	0.90584	D	0.987	0.77487	D	0.000214	0.47681	D	0.135906	1	0.81001	D	1.795	0.47270	L	-1.05	0.76690	T	-2.71	0.57762	D	0.704	0.70790	-0.1430	0.79091	T	0.579	0.84853	D	10	0.12859699	0.24464	T	0.09755	0.76792	D	0.318	0.64008	.	.	0.552044941364	0.54862	0.5727068342586872	0.57198	0.485768874065	0.47451	0.641983151436	0.58846	T	0.439442	0.78472	T	-0.249162	0.14200	T	-0.14391	0.59778	T	0.128796875476837	0.15269	T	0.863714	0.56064	D	0.38217965	0.59474	0.27182868	0.53087	0.38217965	0.59474	0.27182868	0.53086	-9.281	0.69488	D	.	.	0.288	0.51976	B	.	.	2.858775	0.37770	20.6	0.99831799592089021	0.91370	0.99675	0.98566	D	AEFBI	0.912817	0.87396	D	0.604652679474023	0.73467	5.971066	0.59277558970462	0.74421	6.134113	0.99999999999975	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.84	5.84	0.93373	7.461000	0.79870	3.979000	0.40889	0.596000	0.33519	1.000000	0.71638	0.999000	0.35428	0.485000	0.28678	0.0:1.0:0.0:0.0	20.201	0.98261	315	0.87208	Dynein heavy chain, coiled coil stalk	.	.	.	.	.	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	763.98	40	chr16	20969981	.	C	G	763.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.18;DP=785;ExcessHet=0.0000;FS=5.507;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.75;ReadPosRankSum=-7.000e-03;SOR=1.563	GT:AD:DP:GQ:PL	0/1:40,25:65:99:778,0,1092	20	0	1	0
chr16	20985238	20985238	C	T	exonic	DNAH3	.	nonsynonymous SNV	DNAH3:NM_001347886:exon48:c.G7366A:p.V2456M	.	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.767	P	0.372	B	0.018	N	1.000	D	1.38	L	0.92	T	-1.052	T	0.098	T	0.395	2.621	14.72	2.35	0.258	0.525	11.349	0.126	0.0118500252261	.	.	4.943e-05	0	0	0	0	0	0	0.0004	3.88e-05	6	154602	rs757427875	3.899e-05	3.967e-05	2.314e-05	5.5e-05	0.0004	3.047e-05	2.783e-05	0.0003	0.0003	0	0.0001	3.826e-05	7.557e-05	0	0.0002	6.295e-06	4.967e-05	0.0004	2.629e-05	2.627e-05	0	5.382e-05	0.0006	8.14e-06	5.14e-06	0.0002	9.014e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	0.044	0.41096	D	.	.	.	0.767	0.43786	P	0.372	0.43610	B	0.018045	0.27574	N	0.294720	0.999987	0.54805	D	1.58	0.39772	L	0.92	0.44461	T	-1.21	0.30762	N	0.422	0.46180	-1.0523	0.13763	T	0.098	0.36548	T	10	0.20340994	0.36495	T	0.01185	0.29880	T	0.126	0.34673	0.747	0.87821	0.430351802785	0.42654	0.5021921972051796	0.50141	0.21845120166	0.24383	0.395162403584	0.24394	T	0.093433	0.39211	T	-0.400248	0.02306	T	-0.469974	0.25518	T	0.0603760811733855	0.07227	T	0.966303	0.87634	D	0.104354255	0.24668	0.11438208	0.27610	0.104354255	0.24667	0.11438208	0.27609	-6.384	0.49384	T	.	.	0.331	0.55271	B	.	.	0.496241	0.08656	5.424	0.99782631724389392	0.86955	0.12975	0.17591	N	AEFDBI	0.127810	0.24532	N	-0.318588651403985	0.28442	1.568811	-0.402502037362951	0.24923	1.367605	0.00410202853239139	0.10418	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.33	2.35	0.28166	0.195000	0.16960	0.138000	0.15134	-0.173000	0.11020	0.006000	0.17386	0.003000	0.18671	0.631000	0.32184	0.0:0.7673:0.0:0.2327	11.349	0.48818	354	0.85282	Dynein heavy chain, AAA module D4	.	.	.	.	.	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	2168.98	33	chr16	20985238	.	C	T	2168.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.83;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.23;ReadPosRankSum=2.77;SOR=0.675	GT:AD:DP:GQ:PL	0/1:85,79:164:99:2183,0,2331	20	0	1	0
chr16	27511806	27511806	C	T	exonic	GTF3C1	.	nonsynonymous SNV	GTF3C1:NM_001286242:exon7:c.G1069A:p.V357M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08	T	0.96	D	0.788	P	0.009	N	1.000	N	0.55	N	1.78	T	-1.113	T	0.060	T	0.479	2.463	14.19	3.32	1.360	1.482	6.934	0.084	0.0101505501189	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.57e-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	0.007	0.65419	D	0.011	0.65728	D	0.96	0.55278	D	0.788	0.57636	P	0.008994	0.30568	N	0.311059	0.999999	0.08975	N	0.695	0.17993	N	1.77	0.25841	T	-0.73	0.20576	N	0.542	0.56919	-1.1131	0.02817	T	0.060	0.24981	T	10	0.4194749	0.56766	T	0.010151	0.26346	T	0.084	0.24469	0.461	0.52916	0.196089822672	0.19227	0.2870860637048605	0.28621	1.5630790888	0.88064	0.478617936373	0.35867	T	0.330856	0.70100	T	-0.10443	0.35690	T	-0.387783	0.34813	T	0.384352616692363	0.28349	T	0.906109	0.66926	D	0.0667408	0.14389	0.059760444	0.11269	0.0667408	0.14389	0.059760444	0.11269	-4.596	0.32121	T	0.6194223081234906	0.68764	0.116	0.40344	B	.;.	.;.	3.480962	0.48608	22.6	0.99851298378790032	0.93102	0.42053	0.26793	N	AEFDBHCIJ	0.051058	0.08984	N	-0.0143063158120045	0.41209	2.460756	-0.0540124191134995	0.37317	2.183321	0.911181757980206	0.26359	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.64	3.32	0.37134	1.542000	0.35742	2.708000	0.34213	0.599000	0.40250	0.588000	0.27650	0.994000	0.32194	0.694000	0.33958	0.1304:0.6647:0.1271:0.0778	6.934	0.23632	557	0.71576	.;.	.	.	.	.	.	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	1698.98	34	chr16	27511806	.	C	T	1698.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.30;DP=874;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.36;ReadPosRankSum=0.123;SOR=0.664	GT:AD:DP:GQ:PL	0/1:99,65:164:99:1713,0,2672	20	0	1	0
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	807.49	39	chr16	29485668	.	C	*,G	807.49	.	AC=12,2;AF=0.286,0.048;AN=42;BaseQRankSum=-3.277e+00;DP=2501;ExcessHet=14.4320;FS=3.279;InbreedingCoeff=-0.5000;MLEAC=12,2;MLEAF=0.286,0.048;MQ=29.15;MQRankSum=-1.177e+00;QD=0.44;ReadPosRankSum=-2.008e+00;SOR=0.370	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,19,0:87:99:0|1:29485610_ACACACTC_A:280,0,2364,487,2415,2902:29485610	7	0	12	0
chr16	31080387	31080387	C	T	exonic	ZNF646	.	nonsynonymous SNV	ZNF646:NM_014699:exon2:c.C4063T:p.R1355W,	.	.	418	1095	8	1	0	10	0.00454545	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.517	P	0.063	B	.	.	1.000	N	0.805	L	2.98	T	-0.993	T	0.017	T	0.314	2.530	14.42	4.3	1.426	.	4.795	0.046	0.0110771603612	7.7e-05	.	0.0003	0	0.0021	0	0	7.677e-05	0	0.0001	0.0002329	36	154602	rs200795473	0.0003	0.0003	0.0003	0.0003	0.0016	0.0003	0.0002	0.0013	0.0012	0	0.0016	0	0	1.901e-05	0.0010	0.0003	0.0003	0.0002	7.875e-05	7.873e-05	7.707e-05	8.052e-05	0.0002	4.492e-05	3.508e-05	2.846e-05	1.858e-05	7.213e-05	0	0.0001	0	0	0	0	7.349e-05	0.0005	0.0002	0.002	0.72154	D	0.008	0.67890	D	0.517	0.37451	P	0.063	0.27082	B	.	.	.	.	1	0.08975	N	2.095	0.58118	M	2.95	0.09635	T	-1.94	0.45042	N	0.259	0.29313	-0.9926	0.31933	T	0.017	0.06807	T	9	0.019007504	0.00419	T	0.011077	0.28332	T	0.046	0.12618	.	.	0.514587094315	0.51101	0.36539140185632996	0.36453	0.766464379829	0.64535	0.510289311409	0.40263	T	0.091859	0.38883	T	-0.509863	0.00503	T	-0.51839	0.20458	T	0.092089266843435	0.11463	T	0.883212	0.60517	D	0.0581779	0.11674	0.06427366	0.12857	0.0581779	0.11673	0.06427366	0.12857	-7.089	0.54681	T	.	.	0.194	0.47005	B	.;.	.;.	2.938689	0.39066	20.9	0.99873842004282454	0.95076	0.45825	0.27624	N	AEFDBHCI	0.130391	0.24893	N	-0.171405448836957	0.34328	1.958102	-0.0909539969250169	0.35763	2.072948	0.999996706874999	0.74766	0.712529	0.81865	0	0.577304	0.33150	0	0.635938	0.45252	0	0.636168	0.56350	0	.	.	5.26	4.3	0.50540	-0.063000	0.11612	.	.	0.599000	0.40250	0.002000	0.15269	0.991000	0.31484	0.502000	0.29062	0.1833:0.6582:0.0:0.1585	4.795	0.12634	41	0.97903	.;.	.	.	.	.	.	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	2410.11	58	chr16	31080387	.	C	T	2410.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.87;DP=1245;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=11.93;ReadPosRankSum=-2.480e-01;SOR=0.698	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1313,0,1188	19	0	2	0
chr16	48170191	48170191	T	C	exonic	ABCC11	.	nonsynonymous SNV	ABCC11:NM_033151:exon27:c.A3805G:p.T1269A	.	.	.	.	.	.	.	.	.	.	.	3279141	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.83	T	0.008	B	0.029	B	0.025	N	0.992	N	1.085	L	-3.37	D	-0.570	T	0.576	D	0.054	-1.209	0.068	2.21	0.215	0.837	6.625	0.178	0.0197361613049	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247193490	6.841e-07	6.84e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.008	0.14655	B	0.029	0.21540	B	0.024501	0.26249	N	0.374024	1	0.23922	N	1.445	0.36358	L	-3.37	0.94114	D	2.3	0.00290	N	0.103	0.08646	-0.5703	0.66003	T	0.576	0.84712	D	10	0.09814018	0.17723	T	0.019736	0.42178	T	0.178	0.44724	0.556	0.67409	0.71323274049	0.71072	0.34169450871462737	0.34082	0.088826841913	0.10042	0.332726657391	0.15345	T	0.188531	0.54248	T	-0.105752	0.35473	T	-0.389682	0.34590	T	0.0524002272216743	0.05917	T	0.457154	0.13128	T	0.027298665	0.01902	0.03135987	0.01713	0.027298665	0.01901	0.03135987	0.01713	-1.9	0.02825	T	.	.	0.053	0.00405	B	.;.;.	.;.;.	-0.230185	0.02942	0.431	0.47566251666528908	0.03899	0.00750	0.03119	N	AEFBI	0.023806	0.01380	N	-1.0990412911073	0.06662	0.3072838	-1.07339913939493	0.08226	0.4035499	0.0238500875783338	0.13537	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.24	2.21	0.27042	1.423000	0.34445	0.184000	0.15665	-0.218000	0.08083	0.736000	0.28985	0.004000	0.18990	0.001000	0.02609	0.0:0.6906:0.0:0.3094	6.625	0.22018	497	0.76227	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;ABC transporter-like|ABC transporter-like|AAA+ ATPase domain;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	0.02381	2190.98	37	chr16	48170191	.	T	C	2190.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.03;DP=993;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.12;ReadPosRankSum=1.11;SOR=0.684	GT:AD:DP:GQ:PL	0/1:109,88:197:99:2205,0,2587	20	0	1	0
chr16	51141747	51141747	-	GCT	exonic	SALL1	.	nonframeshift insertion	SALL1:NM_001127892:exon2:c.183_184insAGC:p.S62_G63insS	Townes-Brocks branchiootorenal-like syndrome, Autosomal dominant;Townes-Brocks syndrome, Autosomal dominant	.	4	1373	56	3	86	148	0.0220798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	12825.78	138	chr16	51141744	.	CGCT	C,CGCTGCT	12825.78	.	AC=2,3;AF=0.048,0.071;AN=42;BaseQRankSum=0.846;DP=1595;ExcessHet=0.0409;FS=1.139;InbreedingCoeff=0.3189;MLEAC=2,3;MLEAF=0.048,0.071;MQ=59.99;MQRankSum=0.00;QD=22.58;ReadPosRankSum=0.232;SOR=0.595	GT:AD:DP:GQ:PL	0/1:76,82,0:159:99:3111,0,2791,3376,3105,6713	17	0	1	0
chr16	57813723	57813723	T	0	exonic	LOC388282	.	.	.	.	.	519	727	164	25	87	301	0.128297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	2294.46	37	chr16	57813723	.	T	C,*	2294.46	.	AC=2,2;AF=0.048,0.048;AN=42;BaseQRankSum=0.819;DP=938;ExcessHet=0.6776;FS=1.309;InbreedingCoeff=-0.1053;MLEAC=2,2;MLEAF=0.048,0.048;MQ=60.00;MQRankSum=0.00;QD=6.87;ReadPosRankSum=0.332;SOR=0.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:59,0,23:82:99:0|1:57813722_ATG_A:768,946,3423,0,2477,2408:57813722	17	0	2	0
chr16	61727185	61727185	A	G	exonic	CDH8	.	nonsynonymous SNV	CDH8:NM_001796:exon9:c.T1445C:p.V482A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.987	D	0.963	D	0.000	D	1.000	D	2.63	M	0.15	T	-0.115	T	0.415	T	0.763	4.756	26.6	5.75	2.192	8.599	16.059	0.404	0.0389740197732	.	.	4.97e-05	0	0	0	0.0002	7.524e-05	0	0	4.53e-05	7	154602	rs762899072	4.799e-05	4.857e-05	4.093e-05	5.513e-05	0.0019	3.868e-05	3.548e-05	0.0011	0.0008	0	0	0	0	9.372e-05	0.0019	4.415e-05	6.644e-05	1.162e-05	4.629e-05	4.599e-05	3.881e-05	5.412e-05	5.941e-05	2.121e-05	1.535e-05	1.986e-05	1.134e-05	2.412e-05	0	0	0	0	9.414e-05	0.0034	5.941e-05	0	0	0.015	0.52492	D	0.028	0.54934	D	0.93	0.51791	P	0.819	0.59018	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	0.15	0.60734	T	-2.88	0.60507	D	0.805	0.80083	-0.1151	0.79749	T	0.415	0.76232	T	10	0.72622377	0.73991	D	0.038974	0.58541	D	0.404	0.71714	0.662	0.79996	0.538816343342	0.53533	0.6049852163813726	0.60429	1.28626484683	0.82670	0.760034143925	0.75934	T	0.103897	0.78163	T	0.0278209	0.55431	T	0.0278881	0.72140	D	0.871043980121613	0.52094	D	0.845915	0.52533	T	0.5229614	0.68430	0.45141846	0.68082	0.5229614	0.68431	0.45141846	0.68083	-12.163	0.85636	D	.	.	0.774	0.77190	P	.;.;.;.	.;.;.;.	5.011777	0.83234	28.0	0.9987238664647442	0.94989	0.98689	0.85611	D	AEFI	0.920945	0.89366	D	0.839532130120434	0.88505	9.603422	0.822995466258558	0.91343	10.83971	0.99824273644282	0.36633	0.653281	0.48532	0	0.573888	0.26702	0	0.675528	0.61593	0	0.564101	0.26826	0	.	.	5.75	5.75	0.90390	8.586000	0.90592	11.242000	0.90457	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.059	0.80628	677	0.60274	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|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	0	0	0	0	0	0	0	0	0	0	0	0.02381	1252.98	34	chr16	61727185	.	A	G	1252.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.457;DP=834;ExcessHet=0.0000;FS=2.772;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-4.460e-01;SOR=1.085	GT:AD:DP:GQ:PL	0/1:54,48:102:99:1267,0,1505	20	0	1	0
chr16	66823281	66823281	T	C	exonic	NAE1	.	nonsynonymous SNV	NAE1:NM_001018160:exon5:c.A80G:p.D27G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.647	P	0.378	B	0.000	D	1.000	D	1.84	L	0.84	T	-0.901	T	0.154	T	0.731	3.314	17.14	4.78	1.896	7.581	14.602	0.231	0.0208761258462	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	0.33753	T	0.075	0.42976	T	0.407	0.34981	B	0.378	0.43788	B	0.000001	0.84330	D	0.052997	1	0.81001	D	1.795	0.47270	L	0.84	0.47477	T	-2.77	0.58733	D	0.615	0.63798	-0.9008	0.47910	T	0.154	0.48430	T	10	0.5293914	0.63096	D	0.020876	0.43558	T	0.231	0.53208	0.523	0.62668	0.687836408464	0.68516	0.7237786903322078	0.72321	0.420935812295	0.42609	0.684337496758	0.64891	T	0.20038	0.55794	T	0.0804998	0.62098	D	-0.122144	0.61627	T	0.97700434923172	0.71640	D	0.972403	0.92553	D	0.57748663	0.71471	0.34648156	0.60315	0.57748663	0.71472	0.34648156	0.60315	-8.91	0.68874	D	.	.	0.597	0.68735	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.683808	0.74978	26.3	0.99334894869779522	0.59934	0.96941	0.71780	D	AEFBHCI	0.906918	0.86030	D	0.230208873191102	0.52667	3.439522	0.324970129236951	0.57011	3.865569	0.999999919631432	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.78	4.78	0.60666	7.642000	0.82531	6.210000	0.55001	0.605000	0.46263	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	14.602	0.68045	67	0.97183	.;THIF-type NAD/FAD binding fold;.;.;.;THIF-type NAD/FAD binding fold;THIF-type NAD/FAD binding fold	.	.	.	.	.	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	0.175	350.22	138	chr16	66823281	.	T	C	350.22	.	AC=7;AF=0.175;AN=40;BaseQRankSum=-3.935e+00;DP=1576;ExcessHet=2.5830;FS=217.219;InbreedingCoeff=-0.2105;MLEAC=7;MLEAF=0.175;MQ=60.00;MQRankSum=0.00;QD=0.43;ReadPosRankSum=0.615;SOR=11.035	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:76,27:103:89:.:.:89,0,1650	13	0	7	1
chr16	67299535	67299535	C	T	exonic	KCTD19	.	nonsynonymous SNV	KCTD19:NM_001100915:exon6:c.G814A:p.G272R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.838	P	0.000	D	0.749	D	0.55	N	0.19	T	-0.645	T	0.187	T	0.741	3.516	17.96	4.81	2.884	2.109	10.045	0.222	0.0199327264171	0.0002	.	0.0002	0	0	0	0	0.0003	0	0	0.0001552	24	154602	rs200934934	0.0005	0.0005	0.0005	0.0005	0.0006	0.0005	0.0004	0.0005	0.0005	5.974e-05	2.236e-05	0	0	7.521e-05	0	0.0006	0.0008	1.159e-05	0.0003	0.0003	0.0003	0.0003	0.0005	0.0002	0.0002	0.0004	0.0003	0.0001	0	0	0	0	0	0	0.0005	0.0005	0	0.001	0.78490	D	0.008	0.67890	D	0.999	0.77913	D	0.838	0.60045	P	0.000003	0.62929	D	0.000000	0.749175	0.33909	D	0.345	0.11182	N	0.19	0.60236	T	-0.35	0.12847	N	0.702	0.70615	-0.6447	0.62944	T	0.187	0.53767	T	10	0.6075519	0.67260	D	0.019933	0.42414	T	0.222	0.51872	0.257	0.19845	0.759310620552	0.75712	0.7090914414039867	0.70851	0.36538535664	0.38135	0.528607606888	0.42837	T	0.009147	0.08348	T	-0.132722	0.31056	T	-0.11035	0.62584	T	0.0675292589763178	0.08301	T	0.839616	0.51418	T	0.2093559	0.43200	0.26002952	0.51760	0.2093559	0.43200	0.26002952	0.51759	-3.717	0.19569	T	.	.	0.120	0.24633	B	.	.	3.602949	0.50895	23.0	0.99929336734272245	0.99279	0.76491	0.37519	D	AEFDBI	0.244744	0.36580	N	0.384906590117375	0.60604	4.251108	0.407902736549139	0.62057	4.414849	0.999934972744209	0.46732	0.581397	0.33459	0	0.610034	0.51514	0	0.547309	0.15389	0	0.622129	0.49086	0	.	.	5.77	4.81	0.61401	2.132000	0.41706	3.377000	0.37975	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.450000	0.27895	0.0:0.9103:0.0:0.0897	10.045	0.41354	34	0.98095	.	.	.	.	.	.	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	1421.98	39	chr16	67299535	.	C	T	1421.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.11;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.66;ReadPosRankSum=-7.720e-01;SOR=0.734	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1436,0,1085	20	0	1	0
chr16	68310396	68310396	T	C	exonic	SLC7A6OS	.	nonsynonymous SNV	SLC7A6OS:NM_032178:exon2:c.A410G:p.Q137R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.932	P	0.726	P	0.000	D	1.000	D	2.39	M	2.08	T	-1.053	T	0.096	T	0.421	4.989	29.2	4.25	2.151	4.717	10.101	0.121	0.0192237268304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.45039	D	0.043	0.49942	D	0.932	0.51990	P	0.726	0.55126	P	0.000003	0.62929	D	0.108387	0.99992	0.51308	D	3.235	0.89610	M	2.08	0.20255	T	-1.94	0.45042	N	0.662	0.67132	-1.0530	0.13574	T	0.096	0.36238	T	10	0.6752498	0.70952	D	0.019224	0.41523	T	0.121	0.33580	0.568	0.69034	0.161926535498	0.15789	0.6772868930351148	0.67667	1.51235230355	0.87267	0.54880207777	0.45689	T	0.011891	0.10538	T	-0.0657376	0.42006	T	-0.332204	0.41225	T	0.973099052906036	0.69957	D	0.694431	0.30396	T	0.15586673	0.35205	0.16518836	0.38228	0.15586673	0.35205	0.16518836	0.38227	-3.247	0.13063	T	.	.	0.157	0.34667	B	.	.	4.608637	0.73068	25.9	0.99747652337760673	0.84002	0.83426	0.42544	D	AEFDBCI	0.746460	0.68882	D	0.423386597304331	0.62709	4.491531	0.352004439972016	0.58628	4.034508	0.99999998950841	0.74766	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.665054	0.64577	0	.	.	4.25	4.25	0.49658	4.817000	0.62340	7.088000	0.57495	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.834000	0.39329	0.0:0.0:0.0:1.0	10.101	0.41675	36	0.98055	.	.	.	.	.	.	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	1603.98	34	chr16	68310396	.	T	C	1603.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.868e+00;DP=835;ExcessHet=0.0000;FS=2.464;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.07;ReadPosRankSum=-1.337e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/1:46,68:114:99:1618,0,1110	20	0	1	0
chr16	70120596	70120596	G	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322117:exon3:c.G104T:p.R35L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.39	T	0.009	B	0.015	B	0.941	N	1.000	N	0	N	-0.47	T	-1.023	T	0.128	T	0.142	-0.033	3.846	-1.64	-0.158	0.557	5.189	0.042	0.0152657655964	.	.	6.629e-05	0	0	0	0.0006	5.999e-05	0	0	3.84e-05	1	26028	rs745759217	4.955e-05	0.0018	5.754e-05	4.149e-05	6.341e-05	4.017e-05	3.692e-05	5.111e-05	4.687e-05	0	0	0	0	0	0	6.341e-05	3.328e-05	0	1.978e-05	0.0009	2.579e-05	1.349e-05	1.477e-05	5.26e-06	2.46e-06	.	.	0	0	0	0	0	0.0002	0	1.477e-05	0	0	0.416	0.09958	T	0.578	0.08565	T	0.009	0.15093	B	0.015	0.17295	B	0.940547	0.08357	N	0.972503	1	0.18198	N	0	0.06538	N	-0.47	0.70133	T	-0.17	0.09627	N	0.125	0.11769	-1.0234	0.22606	T	0.128	0.43585	T	10	0.04269439	0.03043	T	0.015266	0.35904	T	0.042	0.11227	.	.	0.218112801441	0.21410	0.258975416307323	0.25811	0.555731023393	0.52264	0.31756272912	0.13051	T	0.005222	0.04667	T	-0.182616	0.23347	T	-0.500092	0.22338	T	0.0145011785517235	0.00295	T	0.593441	0.21910	T	0.03477801	0.03967	0.029928848	0.01387	0.03477801	0.03967	0.029928848	0.01387	-3.234	0.12901	T	.	.	0.105	0.19235	B	.;.	.;.	0.164631	0.05545	2.005	0.15222067162141983	0.00364	0.05037	0.10822	N	AEFDBI	0.087500	0.17741	N	-1.3825091507911	0.02802	0.1242519	-1.39904425459602	0.03262	0.1518285	5.97899955856435E-4	0.07414	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.567339	0.31927	0	.	.	4.13	-1.64	0.07874	0.224000	0.17520	1.990000	0.30074	-0.303000	0.06174	0.000000	0.06391	0.375000	0.24588	0.003000	0.05239	0.5506:0.2803:0.1691:0.0	5.189	0.14526	230	0.91032	.;.	.	.	.	.	.	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	1	0	0	0	0.04762	38.12	39	chr16	70120596	.	G	T	38.12	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.75;DP=1507;ExcessHet=0.1072;FS=6.172;InbreedingCoeff=-0.0498;MLEAC=2;MLEAF=0.048;MQ=56.39;MQRankSum=-8.025e+00;QD=0.13;ReadPosRankSum=-1.056e+00;SOR=1.294	GT:AD:DP:GQ:PL	0/1:150,18:168:39:39,0,4277	19	0	2	0
chr16	70128846	70128846	C	T	exonic	PDPR	.	nonsynonymous SNV	PDPR:NM_001322118:exon3:c.C124T:p.R42C	.	.	434	1078	10	0	0	10	0.00461681	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.455	M	-1.71	D	0.772	D	0.773	D	0.788	3.705	18.82	4.37	1.971	5.371	14.045	0.897	0.118915447535	0.0030	.	0.0052	0.0012	0.0022	0	0.0039	0.0082	0	0.0007	0.0003074	8	26028	rs199978223	0.0029	0.0088	0.0029	0.0029	0.0035	0.0028	0.0028	0.0034	0.0034	0.0006	0.0010	0.0012	5.039e-05	0.0015	0.0026	0.0035	0.0025	0.0003	0.0025	0.0055	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0009	0	0.0021	0.0020	0	0.0024	0.0034	0.0040	0.0038	0.0008	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	3.425	0.91960	M	-1.71	0.83157	D	-6.77	0.92782	D	0.907	0.94904	0.772	0.94060	D	0.773	0.92279	D	10	0.13158509	0.25043	T	0.118915	0.79908	D	0.897	0.97097	.	.	0.953785314089	0.95329	0.881366352675146	0.88104	1.52708143552	0.87520	0.732797145844	0.71915	T	0.449152	0.84137	T	0.292995	0.82400	D	0.183091	0.82174	D	0.10227920114994	0.12607	T	0.957504	0.83996	D	0.94084775	0.95333	0.7894737	0.87613	0.94084775	0.95334	0.7894737	0.87614	-9.945	0.73582	D	.	.	0.846	0.80063	P	.;.;.	.;.;.	5.834438	0.93752	33	0.99934935317314788	0.99579	0.95877	0.66538	D	AEFGBI	0.656569	0.62851	D	0.754384090607961	0.83190	7.952887	0.638423896273874	0.77752	6.740092	0.241499713014263	0.18576	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.37	4.37	0.51830	5.314000	0.65589	7.544000	0.60141	0.514000	0.23422	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	14.045	0.64223	209	0.91859	FAD dependent oxidoreductase;FAD dependent oxidoreductase;FAD dependent oxidoreductase	.	.	.	.	.	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	0.07143	2048.68	39	chr16	70128846	.	C	T	2048.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.125;DP=1349;ExcessHet=0.3300;FS=0.679;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=35.90;MQRankSum=0.886;QD=3.16;ReadPosRankSum=-2.550e-01;SOR=0.747	GT:AD:DP:GQ:PL	0/1:184,43:227:99:708,0,4826	18	0	3	0
chr16	70472982	70472982	G	C	splicing	FCSK	NM_145059:exon15:c.1407-1G>C	.	.	.	YES	418	1103	1	0	0	1	0.000453104	1.0000	0.954	1699639	Congenital_disorder_of_glycosylation_with_defective_fucosylation_2|not_provided|not_specified	MONDO:MONDO:0020777,MedGen:C5193028,OMIM:618324|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	D	.	.	.	.	.	.	.	.	.	2.964	15.88	4.6	1.330	5.302	13.804	.	.	0.0002	.	0.0003	0	0.0004	0	0	0.0005	0	0	0.000194	30	154602	rs201291016	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0002	0	0.0002	0	0	0	0.0005	0.0002	0.0003	2.368e-05	0.0002	0.0002	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0002	4.826e-05	0.0055	0.0001	0	0	0	0.0032	0.0003	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0139866	0.53569	T	0.0984703	0.76806	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.232752	0.87839	29.4	0.99219220604533487	0.55839	0.98040	0.79094	D	AEFDBI	.	.	.	0.936541139725994	0.93431	12.03506	0.746592066932378	0.85902	8.721152	0.999996942596924	0.74766	0.106106	0.02776	0	0.090008	0.02477	0	0.099915	0.03048	0	0.109871	0.03346	0	0.877654	0.54502	5.57	4.6	0.56512	3.440000	0.52649	11.792000	0.96402	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.675000	0.33396	0.0:0.0:0.8465:0.1535	13.804	0.62711	108	0.95573	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	715.98	33	chr16	70472982	.	G	C	715.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.80;DP=767;ExcessHet=0.0000;FS=0.995;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=-5.660e-01;SOR=0.846	GT:AD:DP:GQ:PL	0/1:29,27:56:99:730,0,670	20	0	1	0
chr16	70941764	70941764	T	C	exonic	HYDIN	.	nonsynonymous SNV	HYDIN:NM_001270974:exon43:c.A6725G:p.Q2242R,	Ciliary dyskinesia, primary, 5, Autosomal recessive	.	1	1476	45	0	0	45	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.008	N	0.979	N	-2.25	N	1.83	T	-0.944	T	0.011	T	0.018	-1.985	0.007	2.3	0.074	0.490	7.931	0.055	0.00304817483334	.	.	.	.	.	.	.	.	.	.	0.201821	5253	26028	rs2258307	0.0006	0.0046	0.0005	0.0007	0.0030	0.0005	0.0005	0.0026	0.0025	0.0008	0.0020	0.0007	0.0016	0.0004	0.0007	0.0003	0.0006	0.0030	0.0006	0.0069	0.0006	0.0007	0.0015	0.0005	0.0005	0.0007	0.0006	0.0006	0.0012	0.0011	0.0006	0.0007	0.0006	0	0.0004	0.0005	0.0015	1.0	0.00964	T	.	.	.	.	.	.	.	.	.	0.007911	0.31126	N	0.000000	1	0.08975	N	-2.535	0.00052	N	1.83	0.24841	T	0.95	0.01509	N	0.075	0.04913	-0.9444	0.41911	T	0.011	0.03949	T	10	0.014688522	0.00309	T	0.003048	0.06577	T	0.055	0.15663	0.126	0.03173	0.0401082797425	0.02173	0.06463877075559986	0.06402	.	.	0.302159249783	0.10723	T	0.024145	0.18301	T	-0.40012	0.02311	T	-0.812521	0.01609	T	0.00371605582644517	0.00039	T	.	.	.	0.01730264	0.00262	0.047856588	0.06984	0.01730264	0.00262	0.047856588	0.06983	-1.638	0.02072	T	.	.	0.057	0.00514	B	.	.	-0.062839	0.03868	0.839	0.12267503050596004	0.00208	0.00371	0.01888	N	AEFDBI	0.034365	0.04242	N	-2.02332666223511	0.00188	0.008074081	-1.83612994732176	0.00650	0.02891615	0.999998211458731	0.74766	0.549168	0.22868	0	0.627178	0.54094	0	0.607795	0.38427	0	0.542086	0.14980	0	.	.	5.32	2.3	0.27735	0.561000	0.23220	-0.085000	0.12129	-1.628000	0.00857	0.004000	0.16614	0.000000	0.08366	0.046000	0.14843	0.0:0.6869:0.1154:0.1977	7.931	0.29066	552	0.72024	.	.	.	.	.	.	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	329.21	41	chr16	70941764	.	T	C	329.21	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.36;DP=1795;ExcessHet=1.1607;FS=31.919;InbreedingCoeff=-0.1475;MLEAC=5;MLEAF=0.125;MQ=48.99;MQRankSum=-5.512e+00;QD=0.58;ReadPosRankSum=-2.458e+00;SOR=4.591	GT:AD:DP:GQ:PL	0/1:91,13:104:95:95,0,2538	15	0	5	1
chr16	72958393	72958393	C	T	exonic	ZFHX3	.	nonsynonymous SNV	ZFHX3:NM_006885:exon2:c.G1753A:p.G585S,	.	.	406	1108	8	0	0	8	0.00359712	.	.	703806	not_provided|ZFHX3-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.75	T	0.435	B	0.033	B	0.004	U	1.000	D	0.46	N	-0.68	T	-1.047	T	0.059	T	0.049	0.478	6.597	2.24	1.082	0.361	4.544	0.109	.	0.0055	0.00279553	0.0050	0.0013	0.0042	0.0002	0.0032	0.0075	0.0044	0.0015	0.0051681	799	154602	rs140602496	0.0073	0.0073	0.0075	0.0071	0.0086	0.0072	0.0071	0.0085	0.0084	0.0018	0.0050	0.0037	0.0006	0.0027	0.0061	0.0086	0.0063	0.0019	0.0057	0.0057	0.0059	0.0055	0.0090	0.0054	0.0053	0.0078	0.0076	0.0019	0.0197	0.0090	0.0043	0.0006	0.0023	0.0102	0.0084	0.0071	0.0017	0.184	0.21634	T	0.135	0.34124	T	0.435	0.35719	B	0.033	0.22329	B	0.003924	0.34318	U	0.125647	1	0.81001	D	0	0.06538	N	-0.68	0.72568	T	-2.64	0.56630	D	0.057	0.02861	-1.0469	0.15274	T	0.059	0.24797	T	10	0.005561143	0.00123	T	.	.	.	0.109	0.30843	.	.	0.168254554758	0.16434	0.14644547704557218	0.14566	0.098428705568	0.11118	0.430646389723	0.29296	T	0.157218	0.49972	T	-0.53252	0.00371	T	-0.531731	0.19113	T	0.0219211856123054	0.00900	T	0.739226	0.35772	T	0.17965277	0.39047	0.20152593	0.44137	0.17468925	0.38286	0.20152593	0.44136	-3.608	0.17973	T	.	.	0.06	0.00934	B	.;.	.;.	1.668129	0.21268	15.13	0.90663380592635134	0.19914	0.78058	0.38457	D	AEFDBI	0.181590	0.30891	N	-0.370663511836729	0.26519	1.447959	-0.235119152174631	0.30287	1.704002	0.999368011576583	0.39301	0.562547	0.31514	0	0.653731	0.59785	0	0.578056	0.29568	0	0.635551	0.53088	0	.	.	4.65	2.24	0.27264	0.937000	0.28549	0.469000	0.18693	0.599000	0.40250	1.000000	0.71638	0.998000	0.33993	1.000000	0.97212	0.0:0.5364:0.1847:0.2788	4.544	0.11473	668	0.61153	.;.	.	.	.	.	.	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	2025.98	42	chr16	72958393	.	C	T	2025.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.64;DP=1417;ExcessHet=0.0000;FS=0.575;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.35;ReadPosRankSum=0.040;SOR=0.760	GT:AD:DP:GQ:PL	0/1:87,77:164:99:2040,0,2222	20	0	1	0
chr16	75414590	75414590	C	T	exonic	CFDP1	.	nonsynonymous SNV	CFDP1:NM_006324:exon2:c.G170A:p.S57N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.003	B	0.001	B	0.234	N	0.997	N	1.59	L	0.92	T	-1.042	T	0.106	T	0.131	4.170	21.6	5.64	2.658	2.103	15.216	0.095	0.00761520582534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.39820	T	0.226	0.25438	T	0.003	0.11197	B	0.001	0.04355	B	0.233843	0.15860	N	0.673458	0.996543	0.22981	N	1.95	0.52479	M	0.92	0.44461	T	-0.63	0.34795	N	0.19	0.20793	-1.0416	0.16830	T	0.106	0.38636	T	10	0.14283314	0.27125	T	0.007615	0.20192	T	0.095	0.27398	0.157	0.06070	0.629112818682	0.62608	0.02188016319116512	0.02140	0.0131043289129	0.01263	0.479553222656	0.35995	T	0.036751	0.24220	T	-0.229881	0.16666	T	-0.567985	0.15635	T	0.479482755643933	0.31878	T	0.562144	0.19863	T	0.11928983	0.28089	0.078210615	0.17497	0.11928983	0.28089	0.078210615	0.17497	-3.813	0.20999	T	.	.	0.064	0.17189	B	.;.;.	.;.;.	2.067376	0.26289	17.07	0.9942059769889221	0.63742	0.67476	0.33447	D	AEFBI	0.266404	0.38333	N	-0.0348032291430037	0.40283	2.389696	0.154357485495578	0.47373	2.968535	0.999999663528292	0.74766	0.736574	0.97449	0	0.709663	0.81188	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.64	5.64	0.86480	2.160000	0.41975	0.180000	0.15620	0.599000	0.40250	1.000000	0.71638	0.965000	0.29475	0.997000	0.79791	0.0:1.0:0.0:0.0	15.216	0.72954	635	0.64580	.;.;.	.	.	.	.	.	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	0.1111	191.42	45	chr16	75414590	.	C	T	191.42	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-1.369e+00;DP=983;ExcessHet=0.6776;FS=179.431;InbreedingCoeff=-0.1639;MLEAC=5;MLEAF=0.139;MQ=59.99;MQRankSum=0.00;QD=0.87;ReadPosRankSum=-9.360e-01;SOR=8.688	GT:AD:DP:GQ:PL	0/1:51,20:71:57:57,0,946	14	0	4	3
chr16	77194944	77194944	C	T	exonic	MON1B	.	nonsynonymous SNV	MON1B:NM_001286640:exon2:c.C647T:p.A216V	.	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34	T	0.712	P	0.378	B	0.000	D	1.000	D	1.26	L	.	.	-1.016	T	0.130	T	0.216	4.160	21.5	3.81	1.188	6.221	10.946	0.056	0.00630907965356	0.0005	0.000798722	0.0004	0.0002	0.0002	0.0001	0	0.0004	0	0.0005	0.0003752	58	154602	rs201669108	0.0004	0.0004	0.0004	0.0004	0.0010	0.0004	0.0004	0.0006	0.0005	0.0001	0.0004	3.826e-05	2.519e-05	0	0.0010	0.0004	0.0003	0.0007	0.0004	0.0004	0.0004	0.0005	0.0010	0.0004	0.0003	0.0005	0.0005	7.21e-05	0	0.0007	0	0	0	0	0.0007	0.0005	0.0010	0.278	0.16251	T	0.325	0.26386	T	0.712	0.42110	P	0.378	0.43788	B	0.000002	0.62929	D	0.101145	0.999825	0.81001	D	1.5	0.37844	L	.	.	.	-0.78	0.27463	N	0.182	0.22614	-1.0158	0.25078	T	0.130	0.43927	T	9	0.017482847	0.00373	T	0.006309	0.16580	T	0.056	0.15993	.	.	0.186928172975	0.18263	0.4358905051829629	0.43506	0.402438027903	0.41195	0.592749357224	0.51883	T	0.057604	0.30612	T	-0.33356	0.05846	T	-0.380653	0.35647	T	0.0423420446721662	0.04118	T	0.752925	0.37500	T	0.05723142	0.11362	0.099580765	0.23782	0.05723142	0.11362	0.099580765	0.23781	-7.068	0.54529	T	.	.	0.149	0.32874	B	.;.;.	.;.;.	3.945554	0.57762	23.9	0.99917190915655862	0.98518	0.93861	0.59403	D	AEFDBCI	0.719785	0.67056	D	-0.0136357295893251	0.41238	2.463074	0.109642610146906	0.45039	2.774381	0.999999998994424	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	4.8	3.81	0.43020	6.327000	0.72869	6.216000	0.55070	0.599000	0.40250	0.993000	0.37899	1.000000	0.68203	0.999000	0.91618	0.2603:0.7397:0.0:0.0	10.946	0.46511	852	0.35056	.;.;.	.	.	.	.	.	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	1750.98	144	chr16	77194944	.	C	T	1750.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.839e+00;DP=2975;ExcessHet=0.0000;FS=9.192;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.12;ReadPosRankSum=0.987;SOR=0.310	GT:AD:DP:GQ:PL	0/1:98,75:173:99:1765,0,2899	20	0	1	0
chr16	77434661	77434661	G	C	exonic	ADAMTS18	.	nonsynonymous SNV	ADAMTS18:NM_199355:exon1:c.C35G:p.P12R,	Microcornea, myopic chorioretinal atrophy, and telecanthus, Autosomal recessive	.	8	1512	2	0	0	2	0.000660939	.	.	364202	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.92	T	0.0	B	0.001	B	0.999	N	1.000	N	-0.205	N	2.9	T	-1.060	T	0.081	T	0.172	-1.869	0.008	3.06	0.665	1.182	10.062	0.033	.	.	0.00179712	0.0037	0	0	0	.	0.0116	0	0.0012	0.0009961	154	154602	rs200952997	0.0077	0.0072	0.0077	0.0077	0.0083	0.0076	0.0075	0.0082	0.0081	0.0009	0.0023	0.0116	6.81e-05	0.0174	0.0017	0.0083	0.0064	0.0021	0.0062	0.0062	0.0062	0.0063	0.0091	0.0059	0.0058	0.0085	0.0083	0.0016	0.0011	0.0026	0.0104	0	0.0152	0	0.0091	0.0071	0.0021	1.0	0.00964	T	0.797	0.04104	T	0.0	0.02946	B	0.001	0.04355	B	0.998733	0.07951	N	1.000780	1	0.08975	N	0.345	0.11182	N	0.33	0.58323	T	0.11	0.05706	N	0.099	0.08088	-1.0600	0.11756	T	0.081	0.31943	T	10	0.0038737953	0.00073	T	.	.	.	0.033	0.08068	.	.	0.359357374593	0.35551	0.1698177455918712	0.16901	.	.	0.799145042896	0.81832	T	0.005762	0.05208	T	-0.523518	0.00420	T	-0.513742	0.20931	T	0.0104067942773255	0.00143	T	0.367463	0.08589	T	0.025524508	0.01499	0.08228923	0.18768	0.040071856	0.05650	0.059351996	0.11125	-3.105	0.11353	T	.	.	0.051	0.00183	B	.	.	2.279199	0.29141	18.03	0.58330083473862182	0.05969	0.13722	0.18016	N	AEFDBHCI	0.064742	0.12588	N	-1.04398221197312	0.07706	0.3589066	-0.974589639554676	0.10358	0.5211734	0.999999923734621	0.74766	0.455138	0.09556	0	0.59043	0.45803	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	4.03	3.06	0.34374	1.395000	0.34129	1.477000	0.26794	0.668000	0.69082	0.057000	0.21666	0.937000	0.28687	0.847000	0.40026	0.0:0.2647:0.7353:0.0	10.062	0.41452	887	0.27948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	237.98	22	chr16	77434661	.	G	C	237.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.780e-01;DP=654;ExcessHet=0.0000;FS=1.602;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.00;ReadPosRankSum=-1.470e-01;SOR=0.327	GT:AD:DP:GQ:PL	0/1:23,11:34:99:252,0,665	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	0/1:34,39:73:99:901,0,829	19	0	2	0
chr16	87604296	87604296	-	CTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTG:p.A157_V158insAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,85,0,0,0,0:85:99:3731,253,0,3734,256,3737,3734,256,3737,3737,3734,256,3737,3737,3737,3734,256,3737,3737,3737,3737	4	4	6	0
chr16	87604296	87604296	-	CTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTG:p.A157_V158insA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,85,0,0,0,0:85:99:3731,253,0,3734,256,3737,3734,256,3737,3737,3734,256,3737,3737,3737,3734,256,3737,3737,3737,3737	4	4	6	0
chr16	87604296	87604296	-	CTGCTGCTG	exonic	JPH3	.	nonframeshift insertion	JPH3:NM_001271604:exon2:c.439_440insCTGCTGCTG:p.A157_V158insAAA,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,85,0,0,0,0:85:99:3731,253,0,3734,256,3737,3734,256,3737,3737,3734,256,3737,3737,3737,3734,256,3737,3737,3737,3737	4	4	6	0
chr16	87604294	87604296	CTG	-	exonic	JPH3	.	nonframeshift deletion	JPH3:NM_001271604:exon2:c.437_439del:p.A157del,	Huntington disease-like 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5238	43111.59	81	chr16	87604287	.	CCTGCTGCTG	CCTGCTGCTGCTGCTG,CCTGCTGCTGCTG,CCTGCTGCTGCTGCTGCTG,C,CCTGCTG	43111.59	.	AC=17,4,2,1,1;AF=0.405,0.095,0.048,0.024,0.024;AN=42;BaseQRankSum=-1.390e-01;DP=2773;ExcessHet=0.6491;FS=1.966;InbreedingCoeff=0.1106;MLEAC=17,4,2,1,1;MLEAF=0.405,0.095,0.048,0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=27.87;ReadPosRankSum=0.537;SOR=0.883	GT:AD:DP:GQ:PL	1/1:0,85,0,0,0,0:85:99:3731,253,0,3734,256,3737,3734,256,3737,3737,3734,256,3737,3737,3737,3734,256,3737,3737,3737,3737	4	4	6	0
chr16	87881899	87881899	T	C	exonic	CA5A	.	nonsynonymous SNV	CA5A:NM_001367225:exon7:c.A815G:p.N272S,	Hyperammonemia due to carbonic anhydrase VA deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.10980928	0.20499	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.263374	0.04265	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.16231	B	.	.	0.547946	0.09163	5.948	0.66041023486786077	0.07944	0.02188	0.06398	N	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999999977495905	0.74766	0.06567	0.01388	0	0.059962	0.00310	0	0.060301	0.00762	0	0.075334	0.01956	0	0.048964	0.08624	3.42	-4.73	0.03022	0.125000	0.15577	-1.225000	0.05976	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.039000	0.14166	0.2837:0.1649:0.3747:0.1766	1.269	0.01895	958	0.09170	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04545	31.43	50	chr16	87881899	.	T	C	31.43	.	AC=1;AF=0.045;AN=22;BaseQRankSum=0.00;DP=50;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.1570;MLEAC=2;MLEAF=0.091;MQ=60.00;MQRankSum=0.00;QD=7.86;ReadPosRankSum=0.00;SOR=0.693	GT:AD:DP:GQ:PL	0/1:2,2:4:37:37,0,37	10	0	1	10
chr16	88738430	88738430	G	C	exonic	PIEZO1	.	nonsynonymous SNV	PIEZO1:NM_001142864:exon7:c.C645G:p.H215Q,	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Autosomal dominant;Lymphedema, hereditary, III, Autosomal recessive	.	407	1109	6	0	0	6	0.00269784	.	.	433815	PIEZO1-related_disorder|Inborn_genetic_diseases|not_provided	.|MeSH:D030342,MedGen:C0950123|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.3	T	0.011	B	0.004	B	.	.	1.000	D	0.895	L	-0.5	T	-1.001	T	0.089	T	0.12	1.678	11.57	-4.05	-0.411	1.166	2.166	0.029	0.274735076627	.	0.000599042	0.0026	0	0	0	0	0	0	0.0055	0.0003299	51	154602	rs559847737	0.0003	0.0003	0.0002	0.0005	0.0055	0.0003	0.0003	0.0050	0.0049	0	0	0	0	0	0.0012	1.947e-05	0.0003	0.0055	0.0002	0.0002	0.0001	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0.0005	0.0058	0.322	0.13479	T	0.145	0.33000	T	0.011	0.15914	B	0.004	0.10090	B	.	.	.	.	0.947055	0.26612	N	1.33	0.33268	L	-0.5	0.70480	T	-0.52	0.16187	N	0.185	0.20129	-1.0014	0.29516	T	0.089	0.34243	T	9	0.0074704587	0.00170	T	0.274735	0.90012	D	0.079	0.23065	0.208	0.12497	0.0675242888579	0.06100	0.1785156411271724	0.17770	.	.	0.50876057148	0.40049	T	0.003106	0.02504	T	-0.479354	0.00746	T	-0.459831	0.26617	T	0.0195426641500316	0.00658	T	0.674133	0.28269	T	0.028805776	0.02275	0.044203866	0.05673	0.028805776	0.02275	0.044203866	0.05672	-1.116	0.01137	T	0.14444090841553692	0.16502	0.227	0.45966	B	.	.	1.714927	0.21836	15.37	0.91531651829458138	0.20808	0.37225	0.25713	N	AEFGBCI	0.081001	0.16386	N	-0.38044629255213	0.26166	1.425997	-0.432489721075687	0.24049	1.314836	0.999320206672254	0.39149	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	-4.05	0.03730	0.523000	0.22632	0.148000	0.15257	0.676000	0.76740	0.998000	0.41325	0.851000	0.27392	0.799000	0.37691	0.3463:0.3239:0.227:0.1027	2.166	0.03603	856	0.34373	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1090.98	82	chr16	88738430	.	G	C	1090.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.57;DP=1742;ExcessHet=0.0000;FS=3.006;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.81;ReadPosRankSum=-5.250e-01;SOR=1.096	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1105,0,1183	20	0	1	0
chr16	88901524	88901524	G	T	exonic	CBFA2T3	.	nonsynonymous SNV	CBFA2T3:NM_005187:exon2:c.C284A:p.P95H	.	.	417	1104	0	1	0	2	0.000904977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.998	D	0.838	P	0.065	N	1.000	D	1.24	L	1.37	T	-0.837	T	0.132	T	0.287	2.325	13.73	2.94	0.716	1.356	12.288	0.094	0.0527367119027	0.0010	0.000599042	0.0003	0.0030	0.0004	0	0	1.629e-05	0	0	0.0002393	37	154602	rs146149123	7.808e-05	9.112e-05	9.458e-05	6.125e-05	0.0030	6.552e-05	6.119e-05	0.0025	0.0023	0.0030	0.0006	0	0	0	0.0002	4.785e-06	0.0001	0	0.0009	0.0009	0.0010	0.0008	0.0030	0.0008	0.0007	0.0026	0.0024	0.0030	0	0.0004	0	0	0	0	2.94e-05	0.0019	0	0.019	0.78490	D	0.022	0.92824	D	0.702	0.56202	P	0.769	0.56777	P	0.065010	0.21912	N	0.504141	0.965481	0.81001	D	2.095	0.58118	M	1.37	0.50976	T	-1.83	0.91436	N	0.429	0.46835	-0.8371	0.52839	T	0.132	0.44386	T	10	0.01258257	0.00270	T	0.052737	0.65189	D	0.094	0.27141	.	.	0.462809833587	0.45907	0.13766759934210812	0.13690	0.336908965397	0.35691	0.428671360016	0.29027	T	0.214479	0.57608	T	-0.421995	0.01661	T	-0.380099	0.35710	T	0.0454773984271662	0.04688	T	0.943406	0.78893	D	0.1872115	0.40165	0.16831018	0.38782	0.1872115	0.40165	0.16831018	0.38781	-5.696	0.43658	T	.	.	0.098	0.32804	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.063323	0.41146	21.3	0.98641606398592019	0.44055	0.46925	0.27868	N	AEFBI	0.662100	0.63209	D	-0.0339299480349581	0.40322	2.392691	-0.133985898670927	0.34030	1.953009	0.999999901282066	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.576033	0.28219	0	0.633917	0.49826	0	.	.	3.95	2.94	0.33188	1.458000	0.34833	6.357000	0.55501	0.618000	0.50648	0.658000	0.28243	1.000000	0.68203	0.051000	0.15275	0.0:0.0:0.8286:0.1714	12.288	0.54122	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	0	0	0	0	0.02381	1233.98	39	chr16	88901524	.	G	T	1233.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.332;DP=824;ExcessHet=0.0000;FS=1.928;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.03;ReadPosRankSum=-4.530e-01;SOR=0.970	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1248,0,847	20	0	1	0
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	0/1:102,26:128:18:18,0,2364	5	0	12	4
chr17	2324278	2324278	G	A	exonic	TSR1	.	nonsynonymous SNV	TSR1:NM_018128:exon15:c.C2333T:p.T778I,	.	.	420	1087	14	1	0	16	0.00730594	.	.	3210534	TSR1-related_disorder	.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.27	T	0.781	P	0.334	B	0.000	D	1.000	D	0	N	2.71	T	-0.972	T	0.022	T	0.72	4.359	23.0	4.92	2.277	9.706	17.098	0.328	0.015573889284	.	0.00259585	0.0023	9.775e-05	0.0017	0	0.0012	0.0026	0.0013	0.0060	0.0020957	324	154602	rs141644586	0.0017	0.0018	0.0016	0.0018	0.0054	0.0017	0.0016	0.0050	0.0048	0.0003	0.0014	0.0039	0	0.0012	0.0047	0.0015	0.0024	0.0054	0.0017	0.0017	0.0016	0.0017	0.0075	0.0015	0.0014	0.0055	0.0049	0.0003	0	0.0022	0.0032	0.0002	0.0010	0.0102	0.0020	0.0033	0.0075	0.04	0.42199	D	0.036	0.52060	D	0.781	0.44300	P	0.334	0.42203	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.545	0.74286	M	2.71	0.12055	T	-4.67	0.79571	D	0.674	0.68169	-0.9718	0.36819	T	0.022	0.09513	T	10	0.012049884	0.00261	T	0.015574	0.36375	T	0.328	0.65026	.	.	0.517104213562	0.51352	0.7157283914635781	0.71515	0.521668995998	0.49930	0.705295443535	0.67911	T	0.168169	0.51508	T	-0.28306	0.10346	T	-0.178557	0.56657	T	0.0806617079686739	0.10072	T	0.957504	0.83996	D	0.66671205	0.76257	0.52545553	0.72583	0.66671205	0.76258	0.52545553	0.72583	-9.113	0.68421	D	.	.	0.317	0.54279	B	.	.	3.791724	0.54583	23.5	0.99897748403918818	0.97048	0.97204	0.73304	D	AEFDBCI	0.898383	0.84161	D	0.305920468281092	0.56453	3.80992	0.43935198592711	0.64038	4.649846	0.999999998703384	0.74766	0.645754	0.44609	0	0.702456	0.74545	0	0.702456	0.68683	0	0.723	0.93126	0	.	.	4.92	4.92	0.64147	9.842000	0.98352	8.643000	0.77902	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.098	0.86515	648	0.63242	.	.	.	.	.	.	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	5026.68	34	chr17	2324278	.	G	A	5026.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-5.760e-01;DP=889;ExcessHet=0.3300;FS=0.974;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=19.79;ReadPosRankSum=-2.700e-02;SOR=0.775	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,50:95:99:0|1:2324277_A_T:1953,0,1688:2324277	18	0	3	0
chr17	2372977	2372977	C	T	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon15:c.C1678T:p.R560W	.	.	425	1093	4	0	0	4	0.00182648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	D	2.935	M	3.47	T	-0.994	T	0.071	T	0.908	4.017	20.6	2.29	0.751	0.272	13.944	0.368	0.0994580570253	7.7e-05	0.000199681	0.0002	0	0.0010	0	0	0.0002	0	0.0002	5.82e-05	9	154602	rs138905892	8.218e-05	8.277e-05	7.092e-05	9.368e-05	0.0005	6.983e-05	6.525e-05	0.0002	0.0002	0	0.0002	3.923e-05	2.649e-05	0	0.0005	6.135e-05	0.0001	0.0003	7.897e-05	7.877e-05	7.719e-05	8.082e-05	0.0002	4.503e-05	3.517e-05	4.767e-05	3.34e-05	4.825e-05	0	0	0	0.0002	0	0	0.0001	0.0005	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	3.125	0.87999	M	3.47	0.05188	T	-7.17	0.94249	D	0.881	0.91276	-0.9940	0.31565	T	0.071	0.28969	T	10	0.6728891	0.70819	D	0.099458	0.77111	D	0.368	0.68757	.	.	0.400899426204	0.39700	0.7505246282144314	0.74999	0.609113261058	0.55654	0.665121197701	0.62141	T	0.365509	0.73091	T	-0.0109467	0.50134	T	0.0399864	0.72926	D	0.888226270675659	0.53880	D	0.984202	0.99183	D	0.80187476	0.84026	0.6858702	0.81528	0.80187476	0.84027	0.6858702	0.81529	-10.716	0.78365	D	.	.	0.341	0.56005	A	.;.;.	.;.;.	4.034595	0.59680	24.1	0.9992185510474656	0.98787	0.26969	0.23145	N	AEFDBI	0.398557	0.47419	N	0.328165321857272	0.57598	3.92779	0.187494202081701	0.49160	3.122671	0.367545426097667	0.19838	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.8	2.29	0.27658	0.437000	0.21261	0.941000	0.22852	0.599000	0.40250	0.223000	0.24568	0.878000	0.27671	0.768000	0.36443	0.5173:0.4827:0.0:0.0	13.944	0.63584	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	2092.98	34	chr17	2372977	.	C	T	2092.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.947;DP=956;ExcessHet=0.0000;FS=3.377;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.19;ReadPosRankSum=0.359;SOR=0.965	GT:AD:DP:GQ:PL	0/1:103,84:187:99:2107,0,2524	20	0	1	0
chr17	2375781	2375781	T	G	exonic	SGSM2	.	nonsynonymous SNV	SGSM2:NM_001098509:exon17:c.T2255G:p.L752W	.	.	413	1104	5	0	0	5	0.00225938	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.927	P	0.478	P	0.315	N	1.000	N	1.525	L	2.67	T	-1.072	T	0.037	T	0.267	0.467	6.536	3.09	0.854	2.021	8.468	0.041	0.041884060767	.	.	7.955e-05	0	8.721e-05	0	0	6.259e-05	0.0012	0.0003	5.82e-05	9	154602	rs754623052	6.561e-05	6.635e-05	5.671e-05	7.468e-05	0.0005	5.47e-05	5.077e-05	0.0003	0.0003	0	0.0002	4.119e-05	0	0	0.0002	3.464e-05	0.0001	0.0005	3.288e-05	3.284e-05	1.286e-05	5.383e-05	0.0002	1.262e-05	7.98e-06	1.171e-05	6.25e-06	0	0	6.543e-05	0	0	0	0	4.413e-05	0	0.0002	0.126	0.27194	T	0.129	0.34837	T	0.425	0.51527	B	0.208	0.47030	B	0.315214	0.14365	N	0.718934	1	0.08975	N	0.69	0.16971	N	2.67	0.12575	T	-0.91	0.35399	N	0.247	0.27910	-1.0717	0.09043	T	0.037	0.15856	T	10	0.066251606	0.09059	T	0.041884	0.60169	D	0.041	0.10877	.	.	0.263612267334	0.25957	0.2644224939051467	0.26355	0.405105065229	0.41401	0.504734635353	0.39488	T	0.02215	0.17126	T	-0.445921	0.01193	T	-0.564053	0.15999	T	0.05700786830977	0.06690	T	0.664234	0.27311	T	0.02419876	0.01228	0.061216246	0.11783	0.02419876	0.01228	0.061216246	0.11782	-5.718	0.43853	T	.	.	0.061	0.01109	B	.;.;.	.;.;.	1.582367	0.20247	14.66	0.60000604052455109	0.06358	0.43475	0.27106	N	AEFDBI	.	.	.	-0.584471066829596	0.19415	1.01598	-0.670542018642658	0.17698	0.9422653	0.999633237323462	0.41205	0.732398	0.92422	0	0.743671	0.97443	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.29	3.09	0.34677	0.306000	0.19030	0.821000	0.21853	0.651000	0.53179	0.009000	0.18154	0.001000	0.17328	0.007000	0.07825	0.0:0.1598:0.0:0.8402	8.468	0.32130	675	0.60470	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC 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	882.98	35	chr17	2375781	.	T	G	882.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.324;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.48;ReadPosRankSum=-5.500e-01;SOR=0.673	GT:AD:DP:GQ:PL	0/1:28,33:61:99:897,0,729	20	0	1	0
chr17	3216354	3216354	C	T	exonic	OR1A1	.	nonsynonymous SNV	OR1A1:NM_014565:exon1:c.C734T:p.T245M,	.	.	429	1074	19	0	0	19	0.00876788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	1.0	D	0.000	D	1.000	N	1.645	L	1.14	T	-1.058	T	0.109	T	0.302	1.606	11.33	2.97	1.374	0.145	6.460	0.098	.	0.0002	0.000399361	0.0021	9.612e-05	0.0004	0	0	0.0011	0.0011	0.0108	0.0017852	276	154602	rs62090945	0.0012	0.0012	0.0009	0.0016	0.0112	0.0012	0.0012	0.0106	0.0104	0.0001	0.0004	0.0006	0	0.0007	0.0038	0.0006	0.0010	0.0112	0.0006	0.0006	0.0004	0.0008	0.0079	0.0005	0.0005	0.0059	0.0052	2.406e-05	0	0.0005	0.0006	0	0.0008	0.0068	0.0005	0.0005	0.0079	0.009	0.57480	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000065	0.52346	D	0.000000	1	0.08975	N	1.435	0.35949	L	1.14	0.38397	T	-3.59	0.69236	D	0.144	0.14480	-1.0576	0.12362	T	0.109	0.39439	T	10	0.010473847	0.00233	T	.	.	.	0.098	0.28162	.	.	0.678187180389	0.67545	0.23792941975773832	0.23706	0.108402233092	0.12225	0.193604499102	0.00295	T	0.012	0.10762	T	-0.53056	0.00381	T	-0.525494	0.19739	T	0.0836626874931054	0.10449	T	0.284972	0.05045	T	0.11131756	0.26307	0.11306539	0.27285	0.11131756	0.26307	0.11306539	0.27285	-5.993	0.46221	T	.	.	0.101	0.17657	B	.;.;.	.;.;.	2.263604	0.28925	17.96	0.99699207915652932	0.80522	0.03538	0.08731	N	AEFBI	0.035229	0.04498	N	-0.0623885657421028	0.39052	2.296755	-0.186504192124276	0.32032	1.818419	6.33953354773996E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.05	2.97	0.33479	-0.347000	0.07799	0.220000	0.16063	-2.544000	0.00250	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.6879:0.1495:0.1627	6.460	0.21151	616	0.66398	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	3016.98	197	chr17	3216354	.	C	T	3016.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.31;DP=3043;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.01;ReadPosRankSum=0.869;SOR=0.700	GT:AD:DP:GQ:PL	0/1:99,102:201:99:3031,0,2609	20	0	1	0
chr17	3580491	3580491	T	C	exonic	TRPV1	.	nonsynonymous SNV	TRPV1:NM_080706:exon9:c.A1513G:p.T505A	.	.	429	1071	21	1	0	23	0.0106236	.	.	704101	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.19	T	0.004	B	0.012	B	0.057	N	0.688	N	0.315	N	-3.24	D	-0.643	T	0.379	T	0.379	1.325	10.35	-3.17	-0.873	0.431	0.812	0.363	0.00985268792425	0.0038	0.00239617	0.0047	0.0012	0.0005	0	0.0009	0.0059	0.0089	0.0085	0.0044372	686	154602	rs17633288	0.0041	0.0041	0.0040	0.0043	0.0120	0.0041	0.0040	0.0097	0.0089	0.0006	0.0012	0.0015	0	0.0011	0.0120	0.0043	0.0040	0.0087	0.0029	0.0030	0.0031	0.0028	0.0054	0.0027	0.0026	0.0043	0.0041	0.0009	0	0.0027	0.0032	0	0.0007	0.0068	0.0047	0.0009	0.0054	0.412	0.11478	T	0.358	0.17640	T	0.0	0.09854	B	0.003	0.08700	B	0.057080	0.22509	N	0.521439	0.794941	0.30220	N	0.18	0.09070	N	-3.24	0.93474	D	-0.67	0.25118	N	0.098	0.15609	-0.6431	0.63013	T	0.379	0.73625	T	10	0.009269506	0.00209	T	0.009853	0.25675	T	0.363	0.68319	.	.	0.110078149338	0.10416	0.2848063240335977	0.28393	0.0628215532362	0.06995	0.304477274418	0.11072	T	0.678456	0.90532	D	-0.279384	0.10733	T	-0.168684	0.57564	T	0.00256110298506141	0.00027	T	0.538946	0.18512	T	0.023225682	0.01044	0.023724893	0.00386	0.023225682	0.01044	0.023724893	0.00386	-6.518	0.50425	T	.	.	0.069	0.03625	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.897280	0.12713	9.231	0.71797208862771922	0.09751	0.86742	0.46088	D	AEFBI	0.142785	0.26532	N	-1.08010813166704	0.07010	0.3244003	-0.962674042091629	0.10631	0.536613	2.73239071588903E-5	0.03498	0.615465	0.37627	0	0.546412	0.12157	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.55	-3.17	0.04882	0.427000	0.21098	1.591000	0.27530	-0.952000	0.02027	0.999000	0.42656	1.000000	0.68203	0.511000	0.29267	0.2581:0.2889:0.1191:0.3339	0.812	0.01025	661	0.61838	Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport domain;Ion transport 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	2236.11	33	chr17	3580491	.	T	C	2236.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.604;DP=902;ExcessHet=0.1072;FS=0.000;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=9.16;ReadPosRankSum=0.330;SOR=0.704	GT:AD:DP:GQ:PL	0/1:81,54:135:99:1254,0,2015	19	0	2	0
chr17	4895703	4895703	A	G	exonic	MINK1	.	nonsynonymous SNV	MINK1:NM_015716:exon26:c.A3124G:p.R1042G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.948	P	0.654	P	0.000	D	0.992	D	0.345	N	-0.74	T	-0.528	T	0.268	T	0.607	3.749	19.03	3.91	0.887	5.808	9.993	0.490	0.0740547936127	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.948	0.53620	P	0.584	0.52604	P	0.000000	0.84330	D	0.051621	0.991961	0.41520	D	0.895	0.22405	L	-0.74	0.73311	T	-4.51	0.78222	D	0.544	0.57092	-0.5282	0.67609	T	0.268	0.63992	T	10	0.49572483	0.61254	T	0.074055	0.71944	D	0.490	0.77720	0.542	0.65446	0.821480214467	0.81979	0.6303397151703891	0.62967	1.76673974356	0.91213	0.740773916245	0.73086	T	0.226658	0.59174	T	0.0873216	0.62887	D	-0.112345	0.62424	T	0.974778771400452	0.70650	D	0.959504	0.84742	D	0.7676363	0.81906	0.6882835	0.81663	0.7676363	0.81908	0.6882835	0.81664	-11.193	0.80706	D	.	.	0.796	0.80365	P	.;.;.	.;.;.	4.884760	0.80143	27.3	0.99781529932299362	0.86780	0.94826	0.62463	D	AEFBCI	0.883617	0.81267	D	0.208448011284307	0.51608	3.340685	0.273896743332265	0.54018	3.568352	0.999708770743398	0.41986	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	5.02	3.91	0.44383	5.978000	0.70187	5.797000	0.49910	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.8296:0.1704:0.0:0.0	9.993	0.41054	265	0.89590	Citron homology (CNH) domain|Citron homology (CNH) domain|Citron homology (CNH) 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	1874.98	34	chr17	4895703	.	A	G	1874.98	.	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=15.89;ReadPosRankSum=-1.116e+00;SOR=0.722	GT:AD:DP:GQ:PL	0/1:54,64:118:99:1889,0,1290	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	1|2:0,92,72:164:99:1|0:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:5858,2235,2661,3000,0,2652:4933876	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|1:0,72,0:164:99:1|1:4933876_GGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCA_G:3206,348,0,2993,356,3202:4933876	0	10	6	1
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	0/1:93,65,0:158:99:.:.:323,0,1261,575,1432,2007	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	0/1:93,65,0:158:99:.:.:323,0,1261,575,1432,2007	6	0	10	4
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	1/3:0,49,0,4,0,0:53:10:2482,177,10,2307,178,2244,1939,0,1910,1834,2307,178,2244,1910,2244,2307,178,2244,1910,2244,2244	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	1/3:0,49,0,4,0,0:53:10:2482,177,10,2307,178,2244,1939,0,1910,1834,2307,178,2244,1910,2244,2307,178,2244,1910,2244,2244	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	1/3:0,49,0,4,0,0:53:10:2482,177,10,2307,178,2244,1939,0,1910,1834,2307,178,2244,1910,2244,2307,178,2244,1910,2244,2244	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	1/3:0,49,0,4,0,0:53:10:2482,177,10,2307,178,2244,1939,0,1910,1834,2307,178,2244,1910,2244,2307,178,2244,1910,2244,2244	0	14	0	0
chr17	8143450	8143450	G	A	exonic	PER1	.	nonsynonymous SNV	PER1:NM_002616:exon19:c.C2888T:p.P963L,	.	.	390	1125	7	0	0	7	0.00310146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.43	T	0.001	B	0.0	B	0.001	N	0.678	N	0.345	N	2.53	T	-1.057	T	0.021	T	0.284	0.435	6.365	4.36	1.243	1.384	12.259	0.073	0.0121004612137	.	0.000199681	0.0015	0.0001	0.0012	0	0	0.0023	0.0023	0.0006	0.0012225	189	154602	rs143964144	0.0010	0.0010	0.0010	0.0011	0.0059	0.0010	0.0010	0.0044	0.0038	0.0003	0.0008	0.0238	0	0	0.0059	0.0006	0.0023	0.0005	0.0010	0.0010	0.0010	0.0009	0.0009	0.0008	0.0008	0.0006	0.0004	0.0002	0	0.0009	0.0219	0	0	0.0034	0.0006	0.0009	0.0006	0.169	0.22920	T	0.187	0.28764	T	0.001	0.07471	B	0.0	0.01387	B	0.000611	0.42945	N	0.200037	0.999994	0.08975	N	0.925	0.23481	L	2.53	0.17271	T	-1.36	0.33798	N	0.194	0.21319	-1.0569	0.12543	T	0.021	0.08686	T	10	0.013211042	0.00281	T	0.012	0.30367	T	0.073	0.21317	.	.	0.082315109003	0.07666	.	.	0.135698038814	0.15305	0.482213944197	0.36362	T	0.110469	0.42519	T	-0.511822	0.00490	T	-0.571353	0.15326	T	0.0100868625259983	0.00135	T	0.722228	0.33571	T	0.034012582	0.03734	0.032789167	0.02069	0.034012582	0.03734	0.032789167	0.02068	-5.089	0.37791	T	.	.	0.076	0.06159	B	.;.	.;.	1.795793	0.22827	15.78	0.89450409575091461	0.18807	0.68591	0.33860	D	AEFBHCI	0.109900	0.21812	N	-0.535847408548322	0.20929	1.107003	-0.381343605132643	0.25553	1.405985	0.996664880060927	0.34909	0.634777	0.41761	0	0.643519	0.57511	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.35	4.36	0.51643	2.068000	0.41097	3.796000	0.39849	0.618000	0.50648	0.944000	0.32806	1.000000	0.68203	0.001000	0.02609	0.0846:0.0:0.9154:0.0	12.259	0.53957	303	0.87825	.;.	.	.	.	.	.	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	2693.98	37	chr17	8143450	.	G	A	2693.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.271;DP=895;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=23.43;ReadPosRankSum=2.58;SOR=0.702	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:47,68:115:99:0|1:8143450_G_A:2708,0,1739:8143450	20	0	1	0
chr17	8735100	8735100	T	C	exonic	CCDC42	.	nonsynonymous SNV	CCDC42:NM_001158261:exon5:c.A647G:p.D216G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.958	D	0.444	B	0.000	D	0.999	D	1.445	L	1.78	T	-1.062	T	0.068	T	0.692	4.346	22.9	5.18	2.181	2.650	14.139	0.120	0.00748111115648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.50132	D	0.093	0.50809	T	0.958	0.54977	D	0.444	0.45865	B	0.000347	0.45440	D	0.096580	0.999238	0.46406	D	1.67	0.42885	L	1.78	0.25841	T	-4.67	0.79571	D	0.565	0.59393	-1.0620	0.11263	T	0.068	0.27879	T	10	0.35379457	0.52177	T	0.007481	0.19846	T	0.120	0.33359	0.262	0.20631	0.351614576976	0.34778	0.9924611435803031	0.99242	1.1951023035	0.80372	0.560153067112	0.47289	T	0.085351	0.37482	T	-0.00739022	0.50629	T	-0.248392	0.49976	T	0.993819773197174	0.84776	D	0.820918	0.57861	T	0.5132054	0.67866	0.45063546	0.68031	0.5132054	0.67867	0.45063546	0.68032	-4.569	0.31779	T	.	.	0.144	0.40746	B	.;.	.;.	5.006726	0.83108	28.0	0.99830028087208578	0.91198	0.87641	0.47248	D	AEFGBI	0.426441	0.49079	N	0.365888141884114	0.59584	4.13894	0.408757964981186	0.62108	4.421002	0.500152469570985	0.20935	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.18	5.18	0.71140	2.774000	0.47379	7.858000	0.71298	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.956000	0.50813	0.0:0.0:0.0:1.0	14.139	0.64836	798	0.45050	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2240.98	34	chr17	8735100	.	T	C	2240.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.340e-01;DP=861;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.01;ReadPosRankSum=0.808;SOR=0.693	GT:AD:DP:GQ:PL	0/1:76,84:160:99:2255,0,2081	20	0	1	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	0/1:74,110:184:99:2990,0,1628	18	0	3	0
chr17	10524954	10524954	G	T	exonic	MYH2	.	nonsynonymous SNV	MYH2:NM_001100112:exon34:c.C4774A:p.L1592M	Proximal myopathy and ophthalmoplegia, Autosomal recessive, Autosomal dominant	.	0	1487	32	3	0	38	0.0126162	.	.	256025	Myopathy,_proximal,_and_ophthalmoplegia|not_provided|not_specified	MONDO:MONDO:0011577,MedGen:C1854106,OMIM:605637,Orphanet:363677,Orphanet:79091|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.23	T	0.015	B	0.123	B	0.119	N	1.000	N	1.7	L	-1.22	T	-0.639	T	0.333	T	0.228	0.456	6.474	1.27	-0.059	-0.185	8.002	0.148	.	0.0009	0.00219649	0.0031	0.0005	0.0010	0.0003	0.0008	0.0010	0.0044	0.0172	0.0002393	37	154602	rs138393827	0.0018	0.0018	0.0013	0.0022	0.0164	0.0017	0.0017	0.0157	0.0154	0.0004	0.0007	0.0006	0.0006	0.0007	0.0045	0.0008	0.0020	0.0164	0.0011	0.0011	0.0010	0.0012	0.0120	0.0009	0.0009	0.0096	0.0087	0.0004	0	0.0009	0.0006	0.0006	0.0003	0	0.0010	0.0014	0.0120	0.091	0.31834	T	0.224	0.25591	T	0.015	0.17086	B	0.123	0.32463	B	0.118968	0.19093	N	0.272577	1	0.81001	D	1.92	0.51302	L	-1.22	0.78752	T	-0.73	0.20576	N	0.217	0.24260	-0.6386	0.63205	T	0.333	0.70051	T	10	0.009239972	0.00209	T	.	.	.	0.148	0.39182	.	.	0.524166996187	0.52061	0.13048176339087816	0.12973	0.34671068729	0.36577	0.380961924791	0.22393	T	0.321681	0.69275	T	-0.420978	0.01686	T	-0.364509	0.37529	T	0.00270645215745756	0.00028	T	0.525947	0.17303	T	0.095729694	0.22535	0.060628902	0.11577	0.09626438	0.22671	0.07062985	0.15028	-6.408	0.49572	T	0.1937811033623132	0.25510	0.080	0.08368	B	.;.	.;.	1.828592	0.23235	15.94	0.95352617738502965	0.26740	0.60875	0.31321	D	AEFBI	0.109154	0.21691	N	-0.770774773042775	0.14075	0.6982729	-0.702523042184392	0.16898	0.8960642	1.57835060714899E-5	0.02871	0.638212	0.43195	0	0.563428	0.19063	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	5.55	1.27	0.20595	-0.436000	0.06992	-0.396000	0.09442	-0.825000	0.02924	0.087000	0.22510	0.000000	0.08366	0.968000	0.53726	0.119:0.0:0.4051:0.4759	8.002	0.29460	444	0.79803	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	1	0	1	0	0.02381	2863.98	39	chr17	10524954	.	G	T	2863.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.825e+00;DP=1034;ExcessHet=0.0000;FS=4.980;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=53.14;MQRankSum=-1.425e+01;QD=10.65;ReadPosRankSum=1.24;SOR=0.979	GT:AD:DP:GQ:PL	0/1:163,106:269:99:2878,0,4721	20	0	1	0
chr17	16353372	16353372	G	C	exonic	CENPV	.	nonsynonymous SNV	CENPV:NM_181716:exon1:c.C65G:p.A22G,	.	.	493	451	356	217	5	795	0.466903	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.57	T	0.0	B	0.002	B	0.018	N	0.995	P	.	.	.	.	-1.045	T	0.000	T	0.13	-0.711	0.937	-5.31	-0.962	-0.654	7.385	0.005	0.0196258658988	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs149829221	7.149e-05	0.0003	7.417e-05	6.858e-05	0.0004	5.819e-05	5.381e-05	9.822e-05	5.577e-05	0	0.0004	0	0.0002	0	0	7.546e-05	2.353e-05	0	0.0001	0.0002	0.0002	0.0001	0.0004	9.954e-05	8.437e-05	0.0001	9.132e-05	7.305e-05	0	6.661e-05	0	0.0004	0.0001	0.0034	0.0002	0	0.0002	0.561	0.06361	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.018135	0.01481	N	4.295950	1	0.23375	P	.	.	.	.	.	.	0.16	0.05217	N	0.077	0.05162	-1.0452	0.15767	T	0.000	0.00011	T	7	0.019916922	0.00451	T	0.019626	0.42042	T	0.005	0.00259	.	.	0.0884992946249	0.08302	0.0786799102888714	0.07802	1.08031386052	0.77120	0.761266052723	0.76117	T	.	.	.	-0.513494	0.00480	T	-0.57513	0.14982	T	0.0382244026170994	0.03372	T	0.321768	0.06536	T	.	.	.	.	.	.	.	.	-4.474	0.30547	T	.	.	0.062	0.01367	B	.	.	0.600789	0.09695	6.463	0.46967313541535144	0.03803	0.01035	0.03875	N	AEFDGBHCI	0.040505	0.06034	N	-1.72508104807624	0.00756	0.03267343	-1.84943526281674	0.00613	0.02726113	0.99999999998593	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	2.66	-5.31	0.02519	0.072000	0.14482	-2.522000	0.03652	0.272000	0.18543	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.3102:0.4876:0.2022	7.385	0.26048	688	0.59122	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5476	6610.61	16	chr17	16353372	.	G	GCGGAGGCCC,C	6610.61	.	AC=23,1;AF=0.548,0.024;AN=42;BaseQRankSum=0.00;DP=327;ExcessHet=0.2438;FS=3.230;InbreedingCoeff=0.2106;MLEAC=23,1;MLEAF=0.548,0.024;MQ=60.00;MQRankSum=0.00;QD=28.25;ReadPosRankSum=0.231;SOR=0.929	GT:AD:DP:GQ:PL	0/1:6,7,0:13:99:276,0,231,294,252,546	5	7	8	0
chr17	17793782	17793782	-	CAG	exonic	RAI1	.	nonframeshift insertion	RAI1:NM_030665:exon3:c.834_835insCAG:p.Q291_A292insQ,	Smith-Magenis syndrome, Autosomal dominant, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	8476.07	194	chr17	17793779	.	CCAG	C,CCAGCAG	8476.07	.	AC=7,2;AF=0.167,0.048;AN=42;BaseQRankSum=0.190;DP=4672;ExcessHet=4.7172;FS=0.000;InbreedingCoeff=-0.3035;MLEAC=7,2;MLEAF=0.167,0.048;MQ=60.00;MQRankSum=0.00;QD=4.69;ReadPosRankSum=0.870;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:208,23,0:231:38:.:.:38,0,6517,659,6586,7245	12	0	7	0
chr17	29092390	29092390	C	T	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346767:exon33:c.G5029A:p.E1677K	.	.	420	1101	1	0	0	1	0.000453926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.994	D	0.000	D	1.000	D	2.485	M	-1.16	T	0.818	D	0.829	D	0.72	5.648	36	5.2	2.604	7.259	18.722	0.726	0.135816531088	.	.	.	.	.	.	.	.	.	.	.	.	.	rs763255566	3.424e-05	3.42e-05	2.999e-05	3.855e-05	0.0002	2.634e-05	2.378e-05	2.828e-05	2.508e-05	2.987e-05	0	0	0	0	0.0002	3.778e-05	4.97e-05	3.479e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.106	0.46632	T	1.0	0.90584	D	0.949	0.82059	D	0.000000	0.84330	D	0.000000	0.999958	0.52396	D	2.32	0.66415	M	-1.16	0.88689	T	-2.98	0.62008	D	0.855	0.90932	0.818	0.94636	D	0.829	0.94267	D	10	0.83330256	0.82489	D	0.135817	0.81828	D	0.726	0.90369	0.512	0.61000	0.701751612699	0.69916	0.4181549276080129	0.41731	0.939492545994	0.72166	0.807723283768	0.83144	D	0.082479	0.36836	T	0.111399	0.65496	D	0.104387	0.77200	D	0.971096575260162	0.69189	D	0.972453	0.95129	D	0.5179564	0.68142	0.36317226	0.61709	0.5179564	0.68143	0.36317226	0.61709	-7.385	0.69273	T	.	.	0.476	0.63476	A	.;.;.;.	.;.;.;.	5.582235	0.92310	32	0.99938020359000579	0.99698	0.98667	0.85343	D	AEFDBI	0.855898	0.77307	D	0.843185828619516	0.88718	9.684393	0.80541560577488	0.90166	10.28574	0.999999999998092	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	7.474000	0.80024	5.960000	0.51806	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	18.722	0.91661	244	0.90442	.;.;.;.	.	.	.	.	.	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	2103.98	33	chr17	29092390	.	C	T	2103.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.462;DP=826;ExcessHet=0.0000;FS=1.469;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.83;ReadPosRankSum=0.459;SOR=0.866	GT:AD:DP:GQ:PL	0/1:47,78:125:99:2118,0,1095	20	0	1	0
chr17	29121647	29121647	G	A	exonic	MYO18A	.	nonsynonymous SNV	MYO18A:NM_001346767:exon5:c.C1271T:p.T424I	.	.	385	1136	1	0	0	1	0.000439947	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.837	P	0.522	P	0.000	D	0.880	D	1.445	L	-2.24	D	0.417	D	0.621	D	0.554	4.133	21.3	5.51	2.586	3.278	19.014	0.477	0.0978159079787	.	.	.	.	.	.	.	.	.	.	.	.	.	rs985527170	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.36509	T	0.007	0.69154	D	0.837	0.46346	P	0.522	0.48285	P	0.000118	0.50451	D	0.206590	0.879517	0.35722	D	2.24	0.63355	M	-2.24	0.87194	D	-4.05	0.74504	D	0.708	0.72299	0.417	0.89360	D	0.621	0.86638	D	10	0.637337	0.68857	D	0.097816	0.76837	D	0.477	0.76881	0.616	0.75000	0.51375633675	0.51017	0.5794805169194648	0.57877	0.769687871855	0.64702	0.785212993622	0.79716	T	0.590316	0.86719	D	0.0998395	0.64275	D	-0.0943639	0.63831	T	0.984528720378876	0.75805	D	0.944206	0.92042	D	0.28247526	0.51284	0.29206467	0.55232	0.28247526	0.51284	0.29206467	0.55231	-11.39	0.81753	D	.	.	0.377	0.59666	A	.;.;.;.;.	.;.;.;.;.	4.563055	0.71921	25.7	0.99864243631182348	0.94276	0.97423	0.74656	D	AEFBI	0.400517	0.47537	N	0.312492542058359	0.56790	3.844273	0.401629382560411	0.61665	4.369984	0.997944596984302	0.36224	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.51	5.51	0.81769	2.932000	0.48633	11.826000	0.97381	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.926000	0.46234	0.0:0.0:1.0:0.0	19.014	0.92865	242	0.90534	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor domain;.;.;Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class XVIII myosin, motor 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	1408.98	34	chr17	29121647	.	G	A	1408.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.130e-01;DP=838;ExcessHet=0.0000;FS=1.450;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.55;ReadPosRankSum=0.471;SOR=0.519	GT:AD:DP:GQ:PL	0/1:61,61:122:99:1423,0,1520	20	0	1	0
chr17	29615743	29615743	C	T	exonic	CORO6	.	nonsynonymous SNV	CORO6:NM_001351301:exon7:c.G703A:p.G235S	.	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	1.995	M	-0.31	T	-0.112	T	0.437	T	0.44	3.634	18.48	4.13	1.116	4.826	14.289	0.168	0.271734169885	.	.	.	.	.	.	.	.	.	.	.	.	.	rs372595207	5.024e-06	6.84e-06	2.832e-06	7.275e-06	5.689e-05	2.09e-06	1.34e-06	9.42e-06	3.52e-06	0	5.689e-05	0	0	0	0	1.855e-06	5.197e-05	0	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	0.009	0.57480	D	0.024	0.56640	D	0.997	0.70673	D	0.801	0.58220	P	0.000014	0.62929	D	0.066074	0.999995	0.58761	D	2.125	0.59049	M	-0.31	0.73100	T	-0.35	0.12847	N	0.152	0.32701	-0.1121	0.79819	T	0.437	0.77689	T	10	0.33072424	0.50305	T	0.271734	0.89904	D	0.168	0.42943	0.331	0.31681	0.917151192402	0.91631	0.2431724794799881	0.24231	0.859272326509	0.68889	0.606535077095	0.53826	T	0.006915	0.06344	T	0.0251028	0.55068	T	-0.201718	0.54484	T	0.743699066302529	0.42938	D	0.906109	0.67223	D	.	.	.	.	.	.	.	.	-4.748	0.33979	T	.	.	0.100	0.25656	B	.;.;.;.	.;.;.;.	4.627492	0.73545	26.0	0.98289615646113193	0.39935	0.94179	0.60352	D	ALL	0.787441	0.71722	D	0.526414767640643	0.68658	5.247443	0.485821345952573	0.67051	5.032402	0.999999999999993	0.74766	0.652421	0.48094	0	0.552344	0.17405	0	0.64067	0.45733	0	0.055017	0.00153	3	.	.	5.12	4.13	0.47661	4.016000	0.56871	3.978000	0.40881	-0.233000	0.07663	0.999000	0.42656	1.000000	0.68203	0.970000	0.54328	0.0:0.8497:0.1503:0.0	14.289	0.65815	82	0.96572	.;.;.;.	.	.	.	.	.	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	454.98	36	chr17	29615743	.	C	T	454.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.186;DP=754;ExcessHet=0.0000;FS=4.670;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.89;ReadPosRankSum=-1.120e-01;SOR=0.230	GT:AD:DP:GQ:PL	0/1:27,19:46:99:469,0,749	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	0/1:42,58:100:99:744,0,605	0	0	21	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	0/1:237,66,0:303:99:.:.:1595,0,6258,2305,6456,8761	10	0	10	0
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|1:232,58,0:290:99:0|1:41041341_G_T:1534,0,9050,2232,9225,11456:41041341	13	0	7	0
chr17	41041366	41041366	A	0	exonic	KRTAP1-1	.	.	.	.	.	420	996	92	0	14	106	0.0441459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.119	1230.28	61	chr17	41041366	.	A	T,*	1230.28	.	AC=4,1;AF=0.095,0.024;AN=42;BaseQRankSum=-9.070e-01;DP=2214;ExcessHet=1.1607;FS=0.710;InbreedingCoeff=-0.1351;MLEAC=4,1;MLEAF=0.095,0.024;MQ=59.30;MQRankSum=-1.005e+01;QD=1.00;ReadPosRankSum=-4.637e+00;SOR=0.617	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:214,36,0:250:99:0|1:41041341_G_T:868,0,8792,1512,8901,10412:41041341	16	0	4	0
chr17	41041386	41041386	A	0	exonic	KRTAP1-1	.	.	.	.	.	419	1075	14	0	14	28	0.0064695	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	92.06	61	chr17	41041386	.	A	*,G	92.06	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=2.36;DP=1369;ExcessHet=0.1072;FS=2.627;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=59.14;MQRankSum=-2.961e+00;QD=0.21;ReadPosRankSum=-3.285e+00;SOR=0.505	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:202,0,17:219:99:0|1:41041341_G_T:106,714,9196,0,8482,8431:41041341	19	0	1	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	1/1:1,56,0:57:99:2353,121,0,2362,168,2410	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|1:140,28:168:69:0|1:41382308_A_G:69,0,5425:41382308	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|1:142,28,0:170:63:0|1:41382308_A_G:63,0,5454,490,5535,6025:41382308	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|1:142,28,0:170:63:0|1:41382308_A_G:63,0,5454,490,5535,6025:41382308	14	0	5	0
chr17	41382313	41382313	C	G	exonic	KRT34	.	nonsynonymous SNV	KRT34:NM_021013:exon1:c.G60C:p.E20D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.55	T	0.682	P	0.142	B	.	.	0.996	N	0	N	.	.	-1.079	T	0.031	T	0.258	1.036	9.231	4.2	1.489	1.219	9.384	0.057	0.0112921981246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.07059	T	0.682	0.41464	P	0.142	0.33681	B	.	.	.	.	0.995951	0.23155	N	1.1	0.28011	L	-1.61	0.82254	D	.	.	.	0.319	0.35938	-1.0787	0.07602	T	0.031	0.13330	T	8	0.1758697	0.32541	T	0.011292	0.28764	T	.	.	0.215	0.13498	0.749038299637	0.74677	0.027389334383383892	0.02688	0.0406601577266	0.04362	0.292538791895	0.09292	T	0.021114	0.16497	T	-0.035849	0.46564	T	-0.289271	0.45849	T	0.188235579082126	0.19740	T	0.391661	0.09743	T	0.077502705	0.17596	0.08187276	0.18640	0.077502705	0.17595	0.08187276	0.18640	-4.176	0.26403	T	.	.	0.107	0.19919	B	.	.	1.323781	0.17281	13.07	0.98311074385310038	0.40144	0.83088	0.42236	D	AEFDBCI	0.178885	0.30617	N	-0.267547482617439	0.30410	1.695319	-0.155453402914047	0.33199	1.896604	0.828972100147742	0.24658	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.17	4.2	0.48814	1.950000	0.39948	0.265000	0.16590	0.596000	0.33519	0.898000	0.31380	0.000000	0.08366	0.407000	0.26939	0.0:0.8322:0.0:0.1678	9.384	0.37494	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	0	0	0	0	0.119	263.85	46	chr17	41382313	.	C	G,T	263.85	.	AC=3,2;AF=0.071,0.048;AN=42;BaseQRankSum=-5.135e+00;DP=1402;ExcessHet=1.1607;FS=111.246;InbreedingCoeff=-0.1348;MLEAC=3,2;MLEAF=0.071,0.048;MQ=60.00;MQRankSum=0.00;QD=0.38;ReadPosRankSum=0.938;SOR=9.490	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,27,0:167:62:0|1:41382308_A_G:62,0,5403,483,5481,5964:41382308	16	0	3	0
chr17	41424148	41424148	C	T	exonic	KRT37	.	nonsynonymous SNV	KRT37:NM_003770:exon1:c.G376A:p.E126K,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.992	D	0.862	P	0.000	D	1.000	D	4.415	H	-3.35	D	1.104	D	0.930	D	0.819	5.237	33	4.69	2.169	4.942	16.591	0.860	0.14739559857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	0.992	0.64738	D	0.862	0.61339	P	0.000127	0.49741	D	0.000000	0.999782	0.49076	D	4.355	0.98483	H	-3.35	0.94022	D	-3.68	0.70314	D	0.671	0.67908	1.104	0.99799	D	0.930	0.97706	D	10	0.9651581	0.95984	D	0.147396	0.82943	D	0.860	0.95728	0.817	0.93127	0.968381089233	0.96804	0.7110351127502069	0.71045	0.320752863791	0.34277	0.431097149849	0.29359	T	0.581199	0.86289	D	0.362083	0.87411	D	0.282331	0.87249	D	0.998831570148468	0.95311	D	.	.	.	0.8625991	0.88284	0.77118576	0.86492	0.8625991	0.88286	0.77118576	0.86492	-8.036	0.61316	D	.	.	0.341	0.55950	A	.	.	4.011278	0.59175	24.1	0.99932437244478789	0.99439	0.97660	0.76227	D	AEFGBI	0.707892	0.66248	D	0.887693266018471	0.91143	10.73692	0.759715783038607	0.86880	9.033551	0.999960453985324	0.48965	0.497415	0.19182	0	0.55458	0.17659	0	0.573078	0.19857	0	0.542086	0.14980	0	.	.	4.69	4.69	0.58546	4.975000	0.63494	1.169000	0.24610	0.594000	0.32500	1.000000	0.71638	0.792000	0.26872	0.862000	0.40904	0.0:1.0:0.0:0.0	16.591	0.84617	207	0.91931	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3566.98	34	chr17	41424148	.	C	T	3566.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.95;DP=1359;ExcessHet=0.0000;FS=4.111;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.96;MQRankSum=0.00;QD=13.61;ReadPosRankSum=0.352;SOR=0.936	GT:AD:DP:GQ:PL	0/1:135,127:262:99:3581,0,3716	20	0	1	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|2:46,0,11:57:20:0|1:43209576_C_G:20,156,1494,0,1338,1308:43209576	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|2:46,0,11:57:20:0|1:43209576_C_G:20,156,1494,0,1338,1308:43209576	2	0	4	13
chr17	44777504	44777504	C	T	exonic	ADAM11	.	nonsynonymous SNV	ADAM11:NM_001318933:exon22:c.C1204T:p.L402F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.73	T	0.953	P	0.663	P	0.023	N	1.000	D	0.96	L	1.92	T	-0.798	T	0.207	T	0.2	3.340	17.24	4.8	2.374	2.437	17.011	0.074	0.0120414277446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.134	0.34241	T	0.606	0.54283	P	0.34	0.52893	B	0.022637	0.26596	N	0.343082	0.999768	0.52935	D	0.355	0.11969	N	1.92	0.23082	T	-3.35	0.66436	D	0.362	0.40364	-0.7983	0.55244	T	0.207	0.56581	T	10	0.4695472	0.59778	T	0.012041	0.30251	T	0.088	0.25558	0.651	0.78858	0.352048277211	0.34822	0.5285470239376108	0.52778	0.772656149839	0.64854	0.727210462093	0.71099	T	0.30835	0.68044	T	-0.211179	0.19213	T	-0.54112	0.18187	T	0.773679375648499	0.44661	D	0.950905	0.81262	D	0.25138253	0.48146	0.30323684	0.56355	0.25138253	0.48146	0.30323684	0.56354	-9.696	0.72072	D	.	.	0.172	0.40328	B	.;.	.;.	3.161526	0.42834	21.6	0.99877934818487613	0.95491	0.91659	0.53991	D	AEFDBI	0.221892	0.34646	N	0.160705686996613	0.49320	3.133732	0.234306530360189	0.51762	3.355902	0.999972934880998	0.50053	0.609539	0.35627	0	0.588764	0.42986	0	0.493711	0.08198	1	0.567892	0.33627	0	.	.	4.8	4.8	0.61157	2.201000	0.42368	4.798000	0.44948	0.599000	0.40250	0.967000	0.34061	1.000000	0.68203	0.926000	0.46234	0.0:1.0:0.0:0.0	17.011	0.86280	448	0.79501	ADAM, cysteine-rich|ADAM, cysteine-rich;ADAM, cysteine-rich|ADAM, cysteine-rich	.	.	.	.	.	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	1375.98	56	chr17	44777504	.	C	T	1375.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.972;DP=1221;ExcessHet=0.0000;FS=5.819;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.29;ReadPosRankSum=-7.250e-01;SOR=0.887	GT:AD:DP:GQ:PL	0/1:61,51:112:99:1390,0,1765	20	0	1	0
chr17	46769829	46769829	T	G	exonic	WNT3	.	nonsynonymous SNV	WNT3:NM_030753:exon3:c.A542C:p.D181A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.019	B	0.034	B	0.000	D	1.000	D	1.95	M	-1.05	T	-0.332	T	0.387	T	0.838	3.512	17.94	4.49	1.888	7.824	13.949	0.663	0.159092224106	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.065	0.44702	T	0.019	0.17989	B	0.034	0.22546	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.57	0.75187	M	-1.05	0.76690	T	-2.79	0.59059	D	0.785	0.78167	-0.3321	0.74072	T	0.387	0.74202	T	10	0.69632775	0.72166	D	0.159092	0.83936	D	0.663	0.87430	0.502	0.59460	0.774179238701	0.77210	0.9512483484054093	0.95108	1.80178249247	0.91663	0.833481371403	0.87097	D	0.901201	0.98063	D	0.276179	0.80986	D	0.158936	0.80740	D	0.969305157661438	0.68543	D	.	.	.	0.7325757	0.79869	0.3681663	0.62111	0.7325757	0.79871	0.3681663	0.62111	-11.852	0.84123	D	.	.	0.913	0.83696	P	.	.	3.644313	0.51686	23.1	0.97974622712760284	0.37275	0.95227	0.63909	D	AEFDGBCIJ	0.899223	0.84337	D	-0.0591182360797124	0.39195	2.307571	0.00557836613511604	0.39973	2.378337	0.999999999999568	0.74766	0.764865	0.99124	0	0.541168	0.11318	0	0.731555	0.93304	0	0.463824	0.07026	1	.	.	4.49	4.49	0.54177	7.974000	0.87654	5.032000	0.46835	0.580000	0.29708	1.000000	0.71638	1.000000	0.68203	0.937000	0.47636	0.0:0.0:0.0:1.0	13.949	0.63616	548	0.72362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2236.98	34	chr17	46769829	.	T	G	2236.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.416;DP=895;ExcessHet=0.0000;FS=1.158;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.22;ReadPosRankSum=1.11;SOR=0.817	GT:AD:DP:GQ:PL	0/1:93,90:183:99:2251,0,2312	20	0	1	0
chr17	49298642	49298642	T	A	exonic	ZNF652	.	nonsynonymous SNV	ZNF652:NM_001145365:exon6:c.A1592T:p.N531I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	T	0.119	B	0.047	B	0.629	N	1.000	N	0.69	N	-1.14	T	-0.915	T	0.245	T	0.317	2.181	13.25	-4.99	-0.790	-0.161	14.709	0.247	0.110898748576	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.047	0.48855	D	0.119	0.26641	B	0.047	0.24832	B	0.628956	0.10706	N	0.854145	1	0.08975	N	1.39	0.34934	L	-1.14	0.77843	T	-1.38	0.34198	N	0.316	0.35727	-0.9148	0.46246	T	0.245	0.61401	T	10	0.09635797	0.17276	T	0.110899	0.78846	D	0.247	0.55478	0.288	0.24761	0.215239754934	0.21150	0.11187116051509507	0.11116	0.481669543956	0.47144	0.307570695877	0.11540	T	0.034118	0.23193	T	-0.0419022	0.45667	T	-0.297966	0.44940	T	0.183865349430803	0.19475	T	0.770023	0.39993	T	0.10622961	0.25117	0.09297546	0.21938	0.10622961	0.25117	0.09297546	0.21937	-2.606	0.06549	T	.	.	0.189	0.40634	B	.;.	.;.	0.977576	0.13551	10.07	0.96608552885981636	0.30434	0.16126	0.19243	N	AEDBHCI	0.070859	0.14083	N	-0.986388903444089	0.08894	0.4187777	-1.03548526934251	0.09011	0.4460282	0.782989949733095	0.23878	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.84	-4.99	0.02785	0.040000	0.13791	-0.498000	0.08819	0.595000	0.32841	0.004000	0.16614	0.000000	0.08366	0.999000	0.91618	0.0:0.1779:0.0:0.8221	14.709	0.68826	519	0.74455	.;.	.	.	.	.	.	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	1129.98	37	chr17	49298642	.	T	A	1129.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.54;DP=788;ExcessHet=0.0000;FS=0.915;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.14;ReadPosRankSum=0.625;SOR=0.895	GT:AD:DP:GQ:PL	0/1:47,39:86:99:1144,0,1427	20	0	1	0
chr17	57849279	57849279	G	T	exonic	MRPS23	.	nonsynonymous SNV	MRPS23:NM_016070:exon2:c.C176A:p.P59H,	.	.	432	1064	24	2	0	28	0.012987	.	.	1521760	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.53	P	0.34	B	0.004	N	1.000	N	2.05	M	.	.	-0.894	T	0.124	T	0.132	3.055	16.20	-5.03	-0.631	-0.263	5.718	0.074	.	0.0007	0.00678914	0.0066	0.0003	0.0013	0.0002	0.0006	0.0009	0.0088	0.0432	0.0056468	873	154602	rs138577447	0.0032	0.0032	0.0020	0.0045	0.0428	0.0031	0.0031	0.0417	0.0412	0.0003	0.0013	0.0001	0.0001	0.0007	0.0050	0.0006	0.0036	0.0428	0.0018	0.0018	0.0011	0.0026	0.0404	0.0016	0.0016	0.0358	0.0340	0.0002	0	0.0007	0	0.0002	0.0004	0	0.0007	0.0033	0.0404	0.072	0.34982	T	0.12	0.37589	T	0.53	0.37698	P	0.34	0.42389	B	0.003934	0.00993	N	2.515440	1	0.08975	N	2.14	0.59869	M	.	.	.	-3.22	0.64939	D	0.226	0.26233	-0.8943	0.48549	T	0.124	0.42715	T	9	0.0032068193	0.00054	T	.	.	.	0.074	0.21613	.	.	0.177238962908	0.17366	0.40213195719202327	0.40129	0.205357618407	0.22955	0.246498137712	0.03408	T	0.202903	0.56122	T	-0.56619	0.00233	T	-0.553934	0.16949	T	0.0441978682095403	0.04457	T	0.30107	0.05662	T	0.14598365	0.33438	0.14489195	0.34383	0.122028075	0.28682	0.14489195	0.34382	-4.749	0.33991	T	.	.	0.093	0.14015	B	.;.	.;.	1.153333	0.15417	11.83	0.98240022129641202	0.39476	0.03693	0.08968	N	AEFDGBHCI	0.046271	0.07664	N	-0.581543404306759	0.19506	1.021385	-0.734924336193929	0.16093	0.8497054	0.999999999997814	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.86	-5.03	0.02751	-0.567000	0.06007	-1.492000	0.05317	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.947000	0.49155	0.2879:0.0:0.1395:0.5726	5.718	0.17242	131	0.94738	Ribosomal protein S23/S25, mitochondrial;Ribosomal protein S23/S25, mitochondrial	.	.	.	.	.	Likely benign	0	0	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	1791.98	33	chr17	57849279	.	G	T	1791.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.04;DP=871;ExcessHet=0.0000;FS=1.253;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.34;ReadPosRankSum=0.352;SOR=0.578	GT:AD:DP:GQ:PL	0/1:84,74:158:99:1806,0,2027	20	0	1	0
chr17	59169796	59169796	C	T	exonic	PRR11	.	nonsynonymous SNV	PRR11:NM_018304:exon2:c.C44T:p.A15V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.301	B	0.056	B	0.007	N	0.822	N	0.975	L	.	.	-1.056	T	0.062	T	0.405	1.006	9.110	2.44	0.599	1.560	5.589	0.114	0.00161901112937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.066	0.53072	T	0.301	0.32572	B	0.056	0.26147	B	0.006945	0.31695	N	0.217812	0.822301	0.28867	N	1.625	0.41611	L	.	.	.	-2.34	0.51811	N	0.39	0.43126	-1.0563	0.12698	T	0.062	0.25672	T	9	0.11810914	0.22321	T	0.001619	0.02625	T	0.114	0.32008	0.353	0.35246	0.463843524616	0.46008	0.21201986565364367	0.21117	0.141824913144	0.15982	0.511021375656	0.40365	T	0.043819	0.41619	T	-0.0114482	0.50063	T	-0.254221	0.49400	T	0.256090849637985	0.23143	T	0.738626	0.35686	T	0.08459607	0.19588	0.11864727	0.28640	0.08459607	0.19587	0.11864727	0.28640	-4.813	0.34743	T	.	.	0.225	0.49769	B	.;.;.;.;.	.;.;.;.;.	2.443984	0.31461	18.75	0.89075293381606413	0.18490	0.60566	0.31232	D	AEFBI	0.072834	0.14549	N	-0.400933454721085	0.25436	1.380793	-0.341455921876935	0.26773	1.481085	0.866941080532922	0.25337	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.5	2.44	0.28875	1.610000	0.36480	1.045000	0.23589	0.599000	0.40250	0.998000	0.41325	0.555000	0.25489	0.744000	0.35576	0.1941:0.704:0.0:0.1019	5.589	0.16571	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	956.98	34	chr17	59169796	.	C	T	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.21;DP=726;ExcessHet=0.0000;FS=2.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.75;ReadPosRankSum=-9.530e-01;SOR=1.153	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,26:44:99:0|1:59169796_C_T:971,0,657:59169796	20	0	1	0
chr17	59169798	59169798	G	T	exonic	PRR11	.	stopgain	PRR11:NM_018304:exon2:c.G46T:p.E16X,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	D	1.000	A	.	.	.	.	.	.	.	.	.	2.268	13.54	3.7	0.407	2.173	5.175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000343	0.45440	D	0.094927	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.179	0.19325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413012	0.90647	D	0.355487	0.90530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;.;.;.	High;.;.;.;.	7.406221	0.96484	36	0.99480377570600964	0.66850	0.30950	0.24214	N	AEFBI	0.045104	0.07337	N	-0.029964444194133	0.40502	2.406355	-0.232906983124571	0.30365	1.709045	0.929512644348992	0.26971	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.79	3.7	0.41607	2.200000	0.42358	7.178000	0.57743	-0.092000	0.16129	0.998000	0.41325	1.000000	0.68203	0.805000	0.37950	0.726:0.1808:0.0932:0.0	5.175	0.14458	0	0.99858	.;.;.;.;.	.	.	.	.	.	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	956.98	34	chr17	59169798	.	G	T	956.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=726;ExcessHet=0.0000;FS=2.638;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=21.75;ReadPosRankSum=-9.910e-01;SOR=1.153	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,26:44:99:0|1:59169796_C_T:971,0,657:59169796	20	0	1	0
chr17	59697918	59697918	C	T	exonic	PTRH2	.	nonsynonymous SNV	PTRH2:NM_016077:exon2:c.G61A:p.V21I	Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, Autosomal recessive	.	431	1080	11	0	0	11	0.00506679	.	.	506067	PTRH2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.49	T	0.004	B	0.003	B	0.001	N	1.000	N	0.55	N	.	.	-1.075	T	0.062	T	0.083	1.109	9.524	4.61	0.739	3.690	15.415	0.070	0.00244028910284	0.0044	0.00219649	0.0042	0.0013	0.0025	0	0.0030	0.0063	0.0044	0.0014	0.0042626	659	154602	rs76310651	0.0051	0.0051	0.0053	0.0049	0.0160	0.0050	0.0050	0.0133	0.0123	0.0013	0.0030	0.0079	0	0.0040	0.0160	0.0057	0.0051	0.0015	0.0037	0.0037	0.0040	0.0033	0.0058	0.0034	0.0033	0.0054	0.0052	0.0011	0	0.0025	0.0066	0	0.0033	0.0170	0.0058	0.0057	0.0004	0.488	0.16793	T	0.288	0.21745	T	0.004	0.12183	B	0.003	0.08700	B	0.001459	0.38980	N	0.208574	0.999993	0.08975	N	0.895	0.22405	L	.	.	.	-0.37	0.13226	N	0.085	0.06190	-1.0746	0.08431	T	0.062	0.25744	T	9	0.007870734	0.00179	T	0.00244	0.04813	T	0.070	0.20419	.	.	0.372268306217	0.36840	0.1265693023315766	0.12582	0.0581026810352	0.06437	0.262676328421	0.05213	T	0.067176	0.33134	T	-0.536542	0.00351	T	-0.538355	0.18459	T	0.00313176158227098	0.00033	T	0.675332	0.28377	T	0.036266107	0.04428	0.044291425	0.05704	0.05368025	0.10194	0.058567204	0.10842	-4.129	0.25716	T	0.0901838421480545	0.05590	0.087	0.11558	B	.;.;.	.;.;.	1.796192	0.22833	15.78	0.87380798241664726	0.17186	0.97270	0.73702	D	AEFDBCI	0.312492	0.41791	N	-0.722503969275306	0.15390	0.7751858	-0.524870272630976	0.21479	1.162126	0.999999993744599	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.741806	0.99463	0	.	.	5.58	4.61	0.56724	3.747000	0.54853	5.989000	0.52298	-0.182000	0.10109	1.000000	0.71638	1.000000	0.68203	0.654000	0.32802	0.0:0.8705:0.0:0.1295	15.415	0.74686	547	0.72440	.;.;.	.	.	.	.	.	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	2367.98	33	chr17	59697918	.	C	T	2367.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.417e+00;DP=892;ExcessHet=0.0000;FS=1.768;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.14;ReadPosRankSum=-7.040e-01;SOR=0.863	GT:AD:DP:GQ:PL	0/1:101,94:195:99:2382,0,2686	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	0/1:31,12:43:22:22,0,441	8	0	11	2
chr17	63957197	63957197	C	T	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon13:c.G2341A:p.V781I,	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	.	1	1514	7	0	0	7	0.00230643	.	.	34005	not_specified|Hypokalemic_periodic_paralysis,_type_2|Potassium-aggravated_myotonia|not_provided|Joubert_syndrome_17|Congenital_myasthenic_syndrome_16|Familial_hyperkalemic_periodic_paralysis|Hypokalemic_periodic_paralysis,_type_1|Paramyotonia_congenita_of_Von_Eulenburg	MedGen:CN169374|MONDO:MONDO:0013234,MedGen:C2750061,OMIM:613345,Orphanet:681|MONDO:MONDO:0018959,MedGen:C2931826,OMIM:608390,Orphanet:612,Orphanet:99734,Orphanet:99735,Orphanet:99736|MedGen:C3661900|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615,Orphanet:475|MONDO:MONDO:0013620,MedGen:C3280112,OMIM:614198,Orphanet:590|Human_Phenotype_Ontology:HP:0007215,MONDO:MONDO:0008224,MedGen:C0238357,OMIM:170500,Orphanet:682|MONDO:MONDO:0042979,MedGen:C3714580,OMIM:170400,Orphanet:681|MONDO:MONDO:0008195,MedGen:C0221055,OMIM:168300,Orphanet:684	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.06	T	0.891	P	0.364	B	0.000	D	1.000	D	1.1	L	-4.95	D	0.469	D	0.698	D	0.661	4.318	22.6	3.91	2.180	7.609	15.018	0.730	.	0.0046	0.0091853	0.0097	0.0021	0.0289	0.0201	0.0070	0.0075	0.0074	0.0026	0.009062	1401	154602	rs62070884	0.0076	0.0076	0.0079	0.0074	0.0307	0.0075	0.0074	0.0294	0.0288	0.0012	0.0307	0.0035	0.0239	0.0085	0.0014	0.0069	0.0054	0.0015	0.0087	0.0087	0.0075	0.0100	0.0310	0.0083	0.0082	0.0287	0.0278	0.0019	0	0.0310	0.0029	0.0187	0.0098	0	0.0080	0.0061	0.0012	0.051	0.39334	T	0.393	0.15355	T	0.891	0.49025	P	0.364	0.43306	B	0.000086	0.51296	D	0.127755	0.999681	0.48270	D	1.575	0.39704	L	-4.95	0.98428	D	-0.93	0.24898	N	0.787	0.78356	0.469	0.90111	D	0.698	0.89610	D	10	0.015130967	0.00318	T	.	.	.	0.730	0.90545	.	.	.	.	0.6270414422481512	0.62637	0.647554560069	0.58134	0.689928174019	0.65696	T	0.703438	0.91481	D	-0.0446516	0.45257	T	0.186082	0.82345	D	0.0190887025942754	0.00617	T	0.90081	0.65538	D	0.34728563	0.56855	0.25241587	0.50871	0.34728563	0.56855	0.25241587	0.50870	-8.835	0.66629	D	0.28733984521299344	0.38349	0.164	0.36194	B	.	.	4.570234	0.72093	25.8	0.99861989542368212	0.94002	0.88740	0.48813	D	AEFDGBCI	0.850779	0.76762	D	0.373509630198938	0.59991	4.183381	0.413791358474063	0.62423	4.457422	0.999931041148789	0.46732	0.661447	0.50134	0	0.588066	0.40923	0	0.644132	0.48003	0	0.613276	0.41899	0	.	.	3.91	3.91	0.44383	7.905000	0.86479	7.733000	0.67792	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	15.018	0.71261	811	0.42639	Ion transport domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	4797.11	35	chr17	63957197	.	C	T	4797.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.62;DP=1091;ExcessHet=0.1072;FS=2.771;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.59;ReadPosRankSum=1.42;SOR=0.840	GT:AD:DP:GQ:PL	0/1:111,77:188:99:2003,0,2865	19	0	2	0
chr17	64860856	64860856	C	T	exonic	LRRC37A3	.	nonsynonymous SNV	LRRC37A3:NM_001303255:exon8:c.G644A:p.G215D	.	.	429	1087	6	0	0	6	0.00275229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.71	T	0.006	B	0.004	B	.	.	1.000	N	0.09	N	1.04	T	-1.011	T	0.025	T	0.325	0.162	4.869	-4.79	-0.963	-1.533	0.563	0.041	0.0100325638388	0.0018	0.00119808	0.0020	0.0003	0.0003	0	0.0009	0.0028	0.0011	0.0020	0.0016623	257	154602	rs143229372	0.0021	0.0021	0.0021	0.0021	0.0029	0.0020	0.0020	0.0019	0.0019	0.0001	0.0008	0.0138	0	0.0016	0.0029	0.0020	0.0027	0.0018	0.0016	0.0016	0.0017	0.0014	0.0019	0.0014	0.0013	0.0016	0.0015	0.0002	0.0066	0.0010	0.0147	0	0.0008	0.0102	0.0019	0.0033	0.0014	0.526	0.09572	T	0.511	0.34124	T	0.006	0.13644	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	0.685	0.16464	N	1.04	0.61798	T	-1.8	0.42384	N	0.056	0.05037	-1.0106	0.26729	T	0.025	0.10598	T	9	0.005270511	0.00115	T	0.010033	0.26080	T	0.041	0.10877	.	.	0.0138822411134	0.00435	0.12198353408426049	0.12125	.	.	0.560966074467	0.47405	T	0.021365	0.16653	T	-0.476692	0.00774	T	-0.463988	0.26167	T	0.00221871296743957	0.00023	T	0.467153	0.38180	T	0.04569344	0.07521	0.04484057	0.05900	0.04569344	0.07521	0.04484057	0.05899	-5.13	0.38221	T	.	.	0.103	0.18414	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.672894	0.01385	0.080	0.37832283222502461	0.02516	0.00203	0.01164	N	AEFBI	0.021560	0.00973	N	-1.53588955681169	0.01618	0.0707643	-1.62785422694658	0.01494	0.06765724	3.23963829592123E-5	0.03775	0.660377	0.49826	0	0.627178	0.54094	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	2.46	-4.79	0.02966	-1.020000	0.03729	-5.218000	0.01802	-0.958000	0.01995	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.186:0.2045:0.1854:0.424	0.563	0.00637	934	0.15400	.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	3293.98	36	chr17	64860856	.	C	T	3293.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.44;DP=976;ExcessHet=0.0000;FS=4.542;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.87;MQRankSum=0.00;QD=14.58;ReadPosRankSum=-7.730e-01;SOR=0.974	GT:AD:DP:GQ:PL	0/1:104,122:226:99:3308,0,2566	20	0	1	0
chr17	69164965	69164965	T	A	exonic	ABCA10	.	nonsynonymous SNV	ABCA10:NM_001377321:exon26:c.A3281T:p.Q1094L	.	.	436	1083	2	1	0	4	0.00184332	0.0352	0.332	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.131	B	0.063	B	0.002	N	0.993	N	0.55	N	-2.03	D	-0.612	T	0.404	T	0.194	0.623	7.351	1.94	0.350	0.983	5.280	0.178	0.0112060404554	.	.	1.651e-05	0	0	0	0	3.003e-05	0	0	1.29e-05	2	154602	rs755935185	1.232e-05	1.231e-05	1.362e-05	1.101e-05	0.0003	7.7e-06	6.36e-06	6.098e-05	2.523e-05	0	2.238e-05	0	0	0	0.0003	1.08e-05	3.315e-05	1.161e-05	6.573e-06	6.567e-06	1.285e-05	0	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.161	0.23631	T	0.317	0.19304	T	0.131	0.27154	B	0.063	0.27082	B	0.001816	0.00828	N	9.250970	0.992877	0.41768	D	0.55	0.14455	N	-2.03	0.85613	D	-2.13	0.48354	N	0.182	0.19728	-0.6118	0.64329	T	0.404	0.75423	T	10	0.29355267	0.46929	T	0.011206	0.28600	T	0.178	0.44724	0.441	0.49648	0.593198995047	0.58997	0.6738939442509415	0.67327	0.0288828046489	0.02972	0.281808674335	0.07746	T	0.127956	0.45531	T	-0.153199	0.27813	T	-0.350179	0.39184	T	0.0552830156358203	0.06405	T	0.265773	0.04346	T	0.11086911	0.26204	0.095200926	0.22567	0.11086911	0.26204	0.095200926	0.22566	-3.555	0.17211	T	.	.	0.244	0.47880	B	.	.	1.076872	0.14596	11.16	0.65741898466583726	0.07859	0.08443	0.14371	N	AEFI	0.048080	0.08168	N	-0.869425914571707	0.11574	0.5593356	-0.901216863183741	0.12065	0.6184877	3.04871661435515E-6	0.01202	0.553676	0.25195	0	0.588066	0.40923	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.09	1.94	0.25058	0.426000	0.21081	0.572000	0.19617	0.568000	0.28809	0.014000	0.18986	0.665000	0.26036	0.060000	0.15972	0.2559:0.0:0.0:0.7441	5.280	0.14982	873	0.30802	.	.	.	.	.	.	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	1130.98	33	chr17	69164965	.	T	A	1130.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e-01;DP=772;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.08;ReadPosRankSum=0.530;SOR=0.660	GT:AD:DP:GQ:PL	0/1:30,45:75:99:1145,0,680	20	0	1	0
chr17	74312223	74312223	C	T	exonic	DNAI2	.	nonsynonymous SNV	DNAI2:NM_001172810:exon12:c.C1679T:p.P560L	Ciliary dyskinesia, primary, 9, with or without situs inversus	.	4	1508	10	0	0	10	0.00330469	.	.	256393	not_specified|Primary_ciliary_dyskinesia_9|Primary_ciliary_dyskinesia	MedGen:CN169374|MONDO:MONDO:0012906,MedGen:C2676235,OMIM:612444,Orphanet:244|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.28	T	0.005	B	0.002	B	0.006	N	1.000	N	1.905	M	-0.17	T	-1.035	T	0.187	T	0.087	-0.482	1.782	-1.55	0.412	0.003	2.332	0.064	.	0.0010	0.00319489	0.0023	0.0004	0.0004	0	0.0028	0.0011	0	0.0087	0.0013519	209	154602	rs151241589	0.0013	0.0013	0.0011	0.0015	0.0067	0.0013	0.0013	0.0063	0.0061	0.0002	0.0001	0	2.624e-05	0.0027	0.0019	0.0010	0.0010	0.0067	0.0010	0.0010	0.0009	0.0012	0.0083	0.0009	0.0009	0.0062	0.0054	0.0003	0	0.0001	0	0.0007	0.0026	0	0.0011	0.0015	0.0083	0.076	0.34269	T	0.276	0.35082	T	0.005	0.12996	B	0.002	0.06944	B	0.006285	0.01118	N	10.799300	1	0.08975	N	1.525	0.38595	L	-0.14	0.66652	T	-0.7	0.19933	N	0.217	0.27197	-1.0353	0.18762	T	0.187	0.53676	T	10	0.007289797	0.00166	T	.	.	.	0.064	0.18567	.	.	0.474643619859	0.47091	0.18816252618940907	0.18734	0.2567864681	0.28246	0.274821817875	0.06781	T	0.011744	0.11702	T	-0.547178	0.00303	T	-0.555453	0.16806	T	0.00328890195013933	0.00035	T	0.60154	0.22486	T	0.03158688	0.03026	0.030636253	0.01544	0.037525658	0.04827	0.03746203	0.03404	-4.374	0.30507	T	.	.	0.085	0.09965	B	.;.;.;.	.;.;.;.	1.105640	0.14901	11.43	0.67238295708080453	0.08295	0.06415	0.12420	N	AEFBI	0.060474	0.11493	N	-1.07614781901343	0.07085	0.3280867	-1.15536338780169	0.06672	0.3219387	1.53322798104637E-5	0.02871	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.71	-1.55	0.08105	0.535000	0.22822	0.967000	0.23031	-0.214000	0.08267	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3091:0.2922:0.303:0.0957	2.332	0.03978	725	0.54935	.;.;.;.	.	.	.	.	.	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	1456.98	58	chr17	74312223	.	C	T	1456.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.603e+00;DP=1519;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.13;ReadPosRankSum=-7.650e-01;SOR=0.761	GT:AD:DP:GQ:PL	0/1:52,59:111:99:1471,0,1375	20	0	1	0
chr17	80099686	80099686	G	A	exonic	CCDC40	.	nonsynonymous SNV	CCDC40:NM_017950:exon20:c.G3340A:p.V1114M,	Ciliary dyskinesia, primary, 15	.	0	1502	18	2	0	22	0.00727032	.	.	101777	Glycogen_storage_disease,_type_II|Primary_ciliary_dyskinesia|not_provided|not_specified|Primary_ciliary_dyskinesia_15	MONDO:MONDO:0009290,MedGen:C0017921,OMIM:232300,Orphanet:365|Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013435,MedGen:C3151137,OMIM:613808,Orphanet:244	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.07	T	0.99	D	0.814	P	.	.	0.992	N	1.935	M	0.68	T	-1.120	T	0.021	T	0.503	3.057	16.20	2.42	1.239	0.732	6.333	0.193	.	0.0020	0.0133786	0.0119	0.0011	0.0915	0.0001	0.0135	0.0028	0.0101	0.0050	0.0113388	1753	154602	rs61740509	0.0057	0.0057	0.0061	0.0054	0.0804	0.0056	0.0056	0.0782	0.0773	0.0008	0.0804	0	0	0.0119	0.0029	0.0030	0.0055	0.0051	0.0084	0.0084	0.0067	0.0101	0.0508	0.0080	0.0079	0.0479	0.0467	0.0014	0	0.0508	0	0.0004	0.0146	0	0.0034	0.0128	0.0054	0.008	0.58626	D	0.022	0.57587	D	0.99	0.63424	D	0.657	0.52725	P	.	.	.	.	0.999999	0.08975	N	2.085	0.57729	M	0.68	0.51952	T	-1.46	0.35792	N	0.137	0.13484	-1.1202	0.02319	T	0.021	0.08686	T	9	0.002135545	0.00031	T	.	.	.	0.193	0.47281	.	.	.	.	0.20466105173852012	0.20383	0.604538799879	0.55388	0.380866736174	0.22379	T	0.091463	0.38801	T	-0.436624	0.01354	T	-0.337424	0.40636	T	0.0120065135329067	0.00189	T	0.59504	0.22051	T	0.073619634	0.16465	0.089792505	0.21019	0.06872856	0.14997	0.089792505	0.21018	-6.161	0.47607	T	0.4338562103322819	0.52053	0.211	0.43949	B	.	.	2.856298	0.37726	20.6	0.99663980041635425	0.78138	0.08123	0.14090	N	AEFDBI	0.085725	0.17378	N	-0.152738319141504	0.35118	2.013125	-0.355627239107991	0.26335	1.453963	0.997528238130017	0.35716	0.700653	0.57754	0	0.491513	0.07743	0	0.717052	0.78885	0	0.542086	0.14980	0	.	.	4.61	2.42	0.28720	0.759000	0.26127	2.242000	0.31619	0.676000	0.76740	0.036000	0.20778	0.968000	0.29604	0.067000	0.16453	0.1705:0.1536:0.6759:0.0	6.333	0.20485	878	0.29785	.	.	.	.	.	rs61740509	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.02381	1804.98	34	chr17	80099686	.	G	A	1804.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.86;DP=1291;ExcessHet=0.0000;FS=0.677;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.44;ReadPosRankSum=-1.956e+00;SOR=0.796	GT:AD:DP:GQ:PL	0/1:57,68:125:99:1819,0,1341	20	0	1	0
chr17	80273325	80273325	C	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon3:c.C182T:p.P61L	.	.	0	1513	9	0	0	9	0.0029654	.	.	727515	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.05	D	0.001	B	0.001	B	.	.	1.000	N	0.345	N	0.09	T	-1.033	T	0.050	T	0.042	0.531	6.875	-4.92	-1.012	-0.445	10.455	0.094	.	0.0048	0.0109824	0.0051	0.0156	0.0009	0.0112	0	0.0002	0.0034	0.0201	0.004586	709	154602	rs9913317	0.0025	0.0025	0.0020	0.0029	0.0265	0.0024	0.0024	0.0251	0.0246	0.0168	0.0011	3.826e-05	0.0265	0	0.0024	9.892e-05	0.0038	0.0187	0.0059	0.0059	0.0058	0.0060	0.0201	0.0056	0.0054	0.0169	0.0157	0.0161	0	0.0021	0.0003	0.0116	0	0.0068	0.0002	0.0099	0.0201	0.545	0.06691	T	0.382	0.37173	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.315	0.03579	N	0.09	0.61443	T	-1.55	0.37566	N	0.092	0.07125	-1.0334	0.19363	T	0.050	0.21378	T	9	0.0037269592	0.00069	T	.	.	.	0.094	0.27141	.	.	0.115124310173	0.11017	.	.	0.334571908393	0.35472	0.218168541789	0.01206	T	0.028635	0.20698	T	-0.658715	0.00064	T	-0.704039	0.05607	T	0.00341183516672121	0.00036	T	0.509249	0.18074	T	.	.	.	.	.	.	.	.	-3.706	0.19407	T	.	.	0.074	0.05060	B	.;.;.	.;.;.	0.010345	0.04355	1.115	0.74206138924206622	0.10609	0.01612	0.05219	N	AEFGBCI	0.013108	0.00163	N	-1.51726959490494	0.01736	0.07600281	-1.60656953279267	0.01616	0.07331439	0.219053607184007	0.18333	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	3.49	-4.92	0.02848	-0.299000	0.08291	-0.682000	0.07881	-0.858000	0.02657	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2455:0.0:0.7545	10.455	0.43730	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	1	0	0	1	0	0	0	0.02381	1611.98	35	chr17	80273325	.	C	T	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=888;ExcessHet=0.0000;FS=2.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.27;ReadPosRankSum=1.04;SOR=0.937	GT:AD:DP:GQ:PL	0/1:78,65:143:99:1626,0,1950	20	0	1	0
chr17	80361819	80361819	A	T	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon39:c.A11286T:p.E3762D,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.27	T	0.016	B	0.016	B	0.048	N	0.971	N	1.3	L	1.82	T	-1.101	T	0.033	T	0.147	2.294	13.63	-11.4	-2.488	-0.179	11.188	0.035	0.00415516574626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.15876	T	0.083	0.41405	T	.	.	.	.	.	.	0.048151	0.23278	N	0.463402	1	0.08975	N	.	.	.	1.81	0.25344	T	-1.04	0.27259	N	0.139	0.13769	-1.1005	0.04032	T	0.033	0.14160	T	10	0.04982707	0.04627	T	0.004155	0.09963	T	0.035	0.08770	.	.	0.166414681773	0.16258	.	.	0.141411337327	0.15943	0.234671488404	0.02331	T	0.028433	0.20614	T	-0.269827	0.11775	T	-0.625364	0.10768	T	0.142268881201744	0.16469	T	0.525947	0.17303	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.25656	B	.;.	.;.	-1.338363	0.00406	0.008	0.72281991509266252	0.09919	0.11066	0.16384	N	AEFBHCI	0.070962	0.14107	N	-1.71194289333736	0.00800	0.03457941	-1.85717295002011	0.00593	0.02633743	0.999995959607597	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.635938	0.45252	0	0.691587	0.68394	0	.	.	5.68	-11.4	0.00070	-0.145000	0.10248	-2.298000	0.03933	-1.424000	0.01122	0.003000	0.16062	0.000000	0.08366	0.025000	0.12405	0.0805:0.308:0.535:0.0765	11.188	0.47896	873	0.30802	.;.	.	.	.	.	.	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	782.98	33	chr17	80361819	.	A	T	782.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.467e+00;DP=768;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.86;ReadPosRankSum=0.282;SOR=0.584	GT:AD:DP:GQ:PL	0/1:33,33:66:99:797,0,867	20	0	1	0
chr17	81463717	81463717	G	A	exonic	BAHCC1	.	nonsynonymous SNV	BAHCC1:NM_001377448:exon28:c.G7727A:p.R2576H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	0.97	D	.	.	1.000	N	1.67	L	-2.02	D	-0.350	T	0.613	D	0.728	3.728	18.93	2.07	0.990	0.696	2.758	0.523	0.142812448497	7.9e-05	.	6.183e-05	0.0001	0	0	0	6.397e-05	0	0.0001	5.17e-05	8	154602	rs374906493	7.974e-05	8.27e-05	6.658e-05	9.073e-05	0.0031	6.131e-05	5.532e-05	0.0019	0.0015	5.657e-05	4.575e-05	0	2.774e-05	0	0.0031	5.432e-05	9.081e-05	0.0002	2.626e-05	2.624e-05	1.285e-05	4.027e-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	0.003	0.68238	D	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-2.02	0.85542	D	-3.76	0.71276	D	0.111	0.09772	-0.3497	0.73563	T	0.613	0.86296	D	9	0.17100722	0.31796	T	0.142812	0.82517	D	0.523	0.79765	.	.	0.458917189328	0.45515	0.4619769069116354	0.46115	0.98721341715	0.73952	0.338794648647	0.16257	T	0.654448	0.89554	D	0.00680554	0.52588	T	0.00866776	0.70896	D	0.206043978269939	0.20745	T	0.721628	0.34690	T	0.04689801	0.07928	0.08262264	0.18871	0.04689801	0.07928	0.08262264	0.18870	-3.758	0.20178	T	.	.	0.140	0.30739	B	.;.	.;.	4.089143	0.60890	24.3	0.99907422263665191	0.97801	0.09411	0.15172	N	AEFDGBCI	0.091214	0.18478	N	0.0402107872175925	0.43693	2.657	-0.128617918007604	0.34242	1.967467	0.00589070306825036	0.11069	0.646311	0.45356	0	0.547309	0.14657	0	0.576033	0.28219	0	0.699875	0.68795	0	.	.	4.28	2.07	0.26004	0.842000	0.27280	3.689000	0.39491	0.672000	0.70159	0.004000	0.16614	1.000000	0.68203	0.896000	0.43308	0.2602:0.2769:0.4629:0.0	2.758	0.04972	.	.	Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain;Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) domain|Bromo adjacent homology (BAH) 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	1635.98	34	chr17	81463717	.	G	A	1635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.420e-01;DP=812;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-8.700e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:54,64:118:99:1650,0,1296	20	0	1	0
chr17	81550260	81550260	T	C	exonic	FAAP100	.	nonsynonymous SNV	FAAP100:NM_025161:exon3:c.A1234G:p.R412G,	.	.	424	1077	21	0	0	21	0.00965517	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.002	B	0.001	B	0.304	N	1.000	N	1.355	L	1.48	T	-1.001	T	0.046	T	0.363	-0.116	3.431	-0.45	-0.101	-0.420	5.287	0.047	.	0.0016	0.00479233	0.0056	0.0001	0.0015	0	0.0027	0.0045	0.0197	0.0220	0.0046701	722	154602	rs151231414	0.0029	0.0029	0.0024	0.0034	0.0176	0.0029	0.0028	0.0169	0.0166	0.0002	0.0014	0.0199	2.532e-05	0.0032	0.0072	0.0015	0.0046	0.0176	0.0023	0.0023	0.0021	0.0025	0.0201	0.0021	0.0020	0.0168	0.0156	0.0003	0	0.0020	0.0207	0.0002	0.0010	0.0034	0.0016	0.0047	0.0201	0.574	0.06106	T	0.024	0.56640	D	0.002	0.09854	B	0.001	0.04355	B	0.303900	0.14550	N	0.672311	1	0.08975	N	1.01	0.25309	L	1.48	0.31731	T	-2.57	0.63669	D	0.144	0.14480	-1.0009	0.29660	T	0.046	0.19720	T	10	0.0029958785	0.00049	T	.	.	.	0.047	0.12962	.	.	0.137902524267	0.13322	0.27120408113970623	0.27033	0.443225284467	0.44258	.	.	.	0.203323	0.56177	T	-0.55384	0.00277	T	-0.554049	0.16939	T	0.00465743658585482	0.00050	T	0.490951	0.15096	T	0.10023282	0.23664	0.07447114	0.16294	0.10023282	0.23664	0.07447114	0.16294	0.761	0.00166	T	.	.	0.068	0.02861	B	.;.	.;.	0.044817	0.04601	1.272	0.3642484507264947	0.02342	0.04076	0.09532	N	AEFDBI	0.057229	0.10643	N	-1.0674150619097	0.07250	0.3362283	-1.12509718697347	0.07223	0.3505382	0.999918550953572	0.45857	0.67177	0.52595	0	0.685571	0.66316	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.58	-0.45	0.11612	-0.689000	0.05245	-0.502000	0.08796	0.661000	0.55757	0.000000	0.06391	0.000000	0.08366	0.006000	0.07323	0.0:0.4305:0.1706:0.3989	5.287	0.15016	.	.	.;.	.	.	.	.	.	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	1467.98	36	chr17	81550260	.	T	C	1467.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.250e+00;DP=862;ExcessHet=0.0000;FS=4.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.56;ReadPosRankSum=0.904;SOR=1.086	GT:AD:DP:GQ:PL	0/1:63,64:127:99:1482,0,1598	20	0	1	0
chr17	81900124	81900124	G	A	exonic	ANAPC11	.	nonsynonymous SNV	ANAPC11:NM_001289420:exon5:c.G400A:p.D134N,	.	.	426	1095	1	0	0	1	0.000456413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0001	0	0	0.0002	0	0.0002	0.0017	0	9.7e-05	15	154602	rs375171192	7.377e-05	7.73e-05	9.18e-05	5.55e-05	0.0003	6.229e-05	5.786e-05	6.437e-05	5.935e-05	0	9.23e-05	0	0.0001	0	0.0003	7.767e-05	0.0001	3.548e-05	5.25e-05	5.249e-05	3.853e-05	6.711e-05	0.0001	2.554e-05	1.828e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0.0005	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	1083.98	35	chr17	81900124	.	G	A	1083.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.74;DP=764;ExcessHet=0.0000;FS=2.035;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.06;ReadPosRankSum=-1.049e+00;SOR=0.473	GT:AD:DP:GQ:PL	0/1:32,40:72:99:1098,0,775	20	0	1	0
chr17	82362161	82362161	C	T	exonic	TEX19	.	nonsynonymous SNV	TEX19:NM_207459:exon2:c.C11T:p.P4L,	.	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	.	.	1.000	D	1.04	L	.	.	-0.540	T	0.268	T	0.656	3.005	16.02	4.3	2.298	1.604	12.958	0.230	0.0266782879613	7.7e-05	0.000399361	0.0003	0	0	0	0	0.0002	0.0012	0.0017	0.0002523	39	154602	rs371327683	0.0002	0.0002	0.0002	0.0002	0.0015	0.0002	0.0002	0.0013	0.0012	2.992e-05	0.0001	0	0	1.947e-05	0.0007	0.0002	0.0003	0.0015	0.0002	0.0002	0.0002	0.0001	0.0023	0.0001	0.0001	0.0013	0.0010	4.81e-05	0	0.0001	0	0	0	0	0.0002	0.0005	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.999924	0.51308	D	2.455	0.71248	M	.	.	.	-9.05	0.98150	D	0.406	0.44666	-0.5397	0.67174	T	0.268	0.63939	T	8	0.046812445	0.03919	T	0.026678	0.49566	D	0.230	0.53062	.	.	0.199424873507	0.19547	0.05295487427555063	0.05237	0.647694144754	0.58144	0.486621439457	0.36971	T	0.107661	0.42006	T	-0.174599	0.24542	T	-0.0536546	0.66771	D	0.349556289648959	0.27002	T	0.668433	0.27736	T	0.6048801	0.72953	0.625678	0.78180	0.6048801	0.72954	0.625678	0.78181	-2.906	0.09203	T	.	.	0.520	0.65470	A	.	.	3.524665	0.49421	22.8	0.99844238629058013	0.92403	0.79468	0.39384	D	AEFDBI	0.065220	0.12709	N	0.302031641081944	0.56254	3.789704	0.230931081528577	0.51573	3.338556	0.999999973698644	0.74766	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.633917	0.49826	0	.	.	4.3	4.3	0.50540	1.803000	0.38500	2.517000	0.33102	0.599000	0.40250	0.990000	0.36992	0.948000	0.28948	0.110000	0.18741	0.0:1.0:0.0:0.0	12.958	0.57839	.	.	.	.	.	.	.	.	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	1211.98	41	chr17	82362161	.	C	T	1211.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=767;ExcessHet=0.0000;FS=3.349;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.16;ReadPosRankSum=1.58;SOR=1.225	GT:AD:DP:GQ:PL	0/1:32,43:75:99:1226,0,813	20	0	1	0
chr18	6243386	6243386	C	T	exonic	L3MBTL4	.	nonsynonymous SNV	L3MBTL4:NM_001330559:exon7:c.G368A:p.S123N	.	.	432	1084	6	0	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	T	0.081	B	0.089	B	0.000	D	1.000	D	0.075	N	0.95	T	-1.097	T	0.050	T	0.066	3.923	19.96	2.84	0.678	2.640	6.392	0.051	0.00535357757019	0.0024	0.000599042	0.0019	0.0002	0.0003	0	0.0012	0.0032	0.0011	0	0.0019017	294	154602	rs142238955	0.0023	0.0023	0.0023	0.0023	0.0028	0.0022	0.0022	0.0027	0.0027	0.0004	0.0009	7.663e-05	0	0.0017	0.0009	0.0028	0.0021	0	0.0020	0.0020	0.0020	0.0020	0.0034	0.0018	0.0018	0.0030	0.0029	0.0002	0.0175	0.0026	0.0003	0	0.0009	0	0.0034	0.0009	0	0.015	0.55530	D	0.08	0.41913	T	0.081	0.24602	B	0.089	0.29769	B	0.000422	0.44522	D	0.175203	0.789113	0.34363	D	0.105	0.08473	N	0.95	0.44065	T	-0.04	0.08033	N	0.212	0.23758	-1.0968	0.04501	T	0.050	0.21182	T	10	0.008725077	0.00198	T	0.005354	0.13710	T	0.051	0.14325	.	.	0.265929055128	0.26215	0.14710990191635787	0.14632	.	.	0.40081512928	0.25182	T	0.019938	0.15791	T	-0.600036	0.00146	T	-0.632491	0.10227	T	0.0267581857169319	0.01511	T	0.914109	0.69569	D	0.10981217	0.25960	0.09397218	0.22222	0.10981217	0.25960	0.09397218	0.22221	-4.02	0.26068	T	.	.	0.301	0.53095	B	.;.;.;.	.;.;.;.	4.363629	0.67123	25.1	0.99179921223754441	0.54643	0.45702	0.27597	N	AEFBI	0.106003	0.21164	N	-0.425942932818374	0.24563	1.327161	-0.251307675870213	0.29725	1.667791	0.00101359891349202	0.08126	0.638212	0.43195	0	0.670034	0.63936	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.63	2.84	0.32241	2.375000	0.43938	3.161000	0.36568	0.549000	0.26987	0.978000	0.35038	1.000000	0.68203	0.999000	0.91618	0.0:0.6991:0.0:0.3009	6.392	0.20794	930	0.16408	.;.;.;.	.	.	.	.	.	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	985.98	34	chr18	6243386	.	C	T	985.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-03;DP=787;ExcessHet=0.0000;FS=1.901;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=0.252;SOR=0.460	GT:AD:DP:GQ:PL	0/1:47,39:86:99:1000,0,1211	20	0	1	0
chr18	12115491	12115491	G	C	exonic	ANKRD62	.	nonsynonymous SNV	ANKRD62:NM_001277333:exon10:c.G1197C:p.E399D,	.	.	438	1071	12	1	0	14	0.00649351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.008	B	0.002	B	.	.	1.000	N	0.55	N	1.94	T	-1.002	T	0.027	T	0.043	0.180	4.966	-1.33	-0.427	0.324	2.784	0.028	.	.	0.000798722	0.0015	0	0.0131	0	0	0.0003	0.0088	0.0027	0.0002911	45	154602	rs201296985	0.0005	0.0005	0.0004	0.0006	0.0035	0.0005	0.0005	0.0032	0.0031	0	0.0001	0.0001	2.803e-05	0	0.0027	0.0003	0.0007	0.0035	0.0004	0.0004	0.0004	0.0005	0.0044	0.0003	0.0003	0.0029	0.0025	0.0001	0	0	0	0	0	0	0.0005	0.0009	0.0044	.	.	.	0.135	0.34124	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	1.24	0.30952	L	.	.	.	.	.	.	0.053	0.02462	-1.0024	0.29226	T	0.027	0.11441	T	9	0.0055009425	0.00121	T	.	.	.	.	.	0.167	0.07186	0.0297737177859	0.01360	0.016638755993050917	0.01618	0.35775201804	0.37485	0.399017810822	0.24932	T	0.052032	0.29047	T	-0.66035	0.00063	T	-0.723429	0.04631	T	0.0187215452914343	0.00585	T	0.542646	0.18460	T	0.029493151	0.02453	0.04351605	0.05432	0.029493151	0.02453	0.04351605	0.05431	-4.283	0.27938	T	.	.	0.138	0.30238	B	.	.	0.813226	0.11844	8.410	0.92554251429571244	0.22005	0.08769	0.14649	N	AEFGBI	0.057604	0.10746	N	-1.42257462830666	0.02441	0.107807	-1.47478220992073	0.02552	0.1176014	0.240502885359574	0.18566	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	1.82	-1.33	0.08693	0.462000	0.21667	-1.777000	0.04745	-0.499000	0.05024	0.660000	0.28260	0.000000	0.08366	0.006000	0.07323	0.342:0.2492:0.4088:0.0	2.784	0.05041	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	1	0	0	0	0.02381	491.98	35	chr18	12115491	.	G	C	491.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.61;DP=912;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.63;ReadPosRankSum=-1.238e+00;SOR=0.698	GT:AD:DP:GQ:PL	0/1:37,20:57:99:506,0,968	20	0	1	0
chr18	12814235	12814235	C	T	exonic	PTPN2	.	nonsynonymous SNV	PTPN2:NM_001308287:exon6:c.G739A:p.A247T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.794	P	0.216	B	0.002	N	1.000	D	2.125	M	3.61	T	-1.134	T	0.021	T	0.559	3.885	19.75	5.86	2.771	3.660	14.969	0.102	0.00876789102268	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1207461588	6.903e-07	3.421e-06	0	1.387e-06	1.18e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.18e-05	1.314e-05	1.314e-05	0	2.691e-05	4.828e-05	2.18e-06	8.2e-07	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.039	0.54934	D	0.535	0.43786	P	0.192	0.37572	B	0.001669	0.38326	N	0.115428	0.999173	0.51042	D	3.2	0.89116	M	3.59	0.08547	T	-3.58	0.69477	D	0.344	0.41261	-1.1337	0.01613	T	0.021	0.08917	T	10	0.35547003	0.52307	T	0.008768	0.23147	T	0.102	0.29158	0.427	0.47350	0.372852800391	0.36900	0.6334288060791295	0.63276	0.105728612331	0.11951	0.501613557339	0.39053	T	0.381024	0.74343	T	-0.0684986	0.41567	T	-0.33617	0.40778	T	0.963272750377655	0.66611	D	0.937806	0.76632	D	0.35962412	0.57807	0.25244695	0.50874	0.35962412	0.57808	0.25244695	0.50873	-9.242	0.69757	D	.	.	0.158	0.47524	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.106374	0.61274	24.3	0.99791293313253737	0.87661	0.97939	0.78280	D	AEFDGBI	0.505265	0.53649	D	0.395752582900315	0.61191	4.316961	0.491495573655148	0.67425	5.082329	0.999999940755575	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	5.86	5.86	0.93936	3.760000	0.54947	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1426:0.8574:0.0:0.0	14.969	0.70864	746	0.52331	.;.;.;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase;PTP type protein phosphatase	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.225	1024.34	23	chr18	12814235	.	C	T	1024.34	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-1.786e+00;DP=832;ExcessHet=4.7172;FS=190.289;InbreedingCoeff=-0.2940;MLEAC=9;MLEAF=0.225;MQ=59.98;MQRankSum=0.00;QD=2.05;ReadPosRankSum=0.165;SOR=10.577	GT:AD:DP:GQ:PL	0/1:27,21:48:99:113,0,419	11	0	9	1
chr18	14513679	14513679	T	G	exonic	POTEC	.	nonsynonymous SNV	POTEC:NM_001137671:exon10:c.A1516C:p.K506Q,	.	.	1001	337	183	1	0	185	0.215367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	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	0/1:186,36:222:99:529,0,5224	9	0	12	0
chr18	14513787	14513787	T	C	splicing	POTEC	NM_001137671:exon10:c.1410-2A>G	.	.	.	.	994	521	7	0	0	7	0.00667302	0.9996	0.558	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	-1.436	0.020	0.702	0.544	.	.	.	.	.	0.0197684	0.0144	0.0072	0.0022	0.0229	0.0074	0.0104	0.0057	0.0474	0.0085704	1325	154602	rs8095431	0.0090	0.0090	0.0082	0.0098	0.0429	0.0089	0.0088	0.0412	0.0405	0.0060	0.0029	0.0013	0.0429	0.0052	0.0154	0.0066	0.0086	0.0334	0.0083	0.0083	0.0080	0.0086	0.0405	0.0079	0.0078	0.0358	0.0341	0.0064	0	0.0039	0.0009	0.0284	0.0044	0.0306	0.0077	0.0066	0.0405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999935	0.19363	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.798505	0.00008	T	-0.894011	0.00546	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.342760	0.46072	22.2	0.78168870682474034	0.12185	0.01012	0.03817	N	AEFI	.	.	.	-0.00385594114453219	0.41679	2.497468	-0.459820587356929	0.23271	1.268173	1.40848488218025E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0884565	0.20023	0.702	0.702	0.17269	-0.679000	0.05304	.	.	0.332000	0.19570	0.000000	0.06391	0.000000	0.08366	0.024000	0.12247	.	.	.	940	0.13648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2889.11	35	chr18	14513787	.	T	C	2889.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.05;DP=1286;ExcessHet=0.1072;FS=5.774;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=51.38;MQRankSum=3.19;QD=7.70;ReadPosRankSum=1.18;SOR=0.976	GT:AD:DP:GQ:PL	0/1:143,67:210:99:1667,0,3447	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	0/1:26,30:56:99:249,0,431	1	0	20	0
chr18	36170097	36170097	A	G	exonic	ELP2	.	nonsynonymous SNV	ELP2:NM_001242879:exon17:c.A1901G:p.D634G	Mental retardation, autosomal recessive 58, Autosomal recessive	.	0	1513	9	0	0	9	0.0029654	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.002	B	0.006	B	0.204	N	1.000	N	0	N	-0.49	T	-1.006	T	0.139	T	0.265	0.852	8.444	3.54	0.838	2.454	6.718	0.037	0.016840633897	.	0.00119808	0.0003	0	8.637e-05	0	0	8.99e-05	0	0.0021	0.0003105	48	154602	rs199910336	0.0002	0.0002	0.0001	0.0002	0.0019	0.0001	0.0001	0.0016	0.0016	2.987e-05	0.0001	0	0	0	0.0009	2.608e-05	0.0003	0.0019	9.2e-05	9.845e-05	0.0001	6.719e-05	0.0021	5.528e-05	4.365e-05	0.0011	0.0009	0	0	0	0	0	0	0	4.411e-05	0.0005	0.0021	0.19	0.21144	T	0.268	0.24264	T	0.001	0.09854	B	0.003	0.12133	B	0.204196	0.16524	N	0.637257	1	0.08975	N	1.61	0.41143	L	-0.49	0.70365	T	-1.34	0.37566	N	0.249	0.32921	-1.0058	0.28216	T	0.139	0.45791	T	10	0.0043249726	0.00087	T	0.016841	0.38283	T	0.037	0.09474	.	.	0.699663631427	0.69706	0.438556357118508	0.43772	0.104554482141	0.11829	0.372700065374	0.21219	T	0.021072	0.16473	T	-0.397438	0.02407	T	-0.350145	0.39189	T	0.0203395389322299	0.00734	T	0.844516	0.52185	T	0.05245166	0.09784	0.082355	0.18789	0.05245166	0.09784	0.082355	0.18788	-3.489	0.17828	T	.	.	0.071	0.05979	B	.;.;.;.;.;.	.;.;.;.;.;.	2.008011	0.25515	16.79	0.97360644248206762	0.33573	0.42619	0.26918	N	AEFDBIJ	0.122815	0.23813	N	-0.629280780682264	0.18069	0.9351134	-0.504208007450828	0.22038	1.195075	0.999651519669057	0.41424	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.7	3.54	0.39650	2.673000	0.46524	4.840000	0.45276	0.691000	0.84096	0.898000	0.31380	0.999000	0.35428	0.987000	0.62547	0.8944:0.0:0.1056:0.0	6.718	0.22502	854	0.34840	.;.;.;.;.;.	.	.	.	.	.	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	1614.98	37	chr18	36170097	.	A	G	1614.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-7.520e-01;DP=914;ExcessHet=0.0000;FS=3.667;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.97;ReadPosRankSum=-1.545e+00;SOR=0.861	GT:AD:DP:GQ:PL	0/1:93,69:162:99:1629,0,2491	20	0	1	0
chr18	44950971	44950971	G	C	exonic	SETBP1	.	nonsynonymous SNV	SETBP1:NM_001379141:exon4:c.G1631C:p.R544P	Mental retardation, autosomal dominant 29, Autosomal dominant;Schinzel-Giedion midface retraction syndrome, Autosomal dominant	YES	1	1518	3	0	0	3	0.000987167	.	.	1300368	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.946	D	0.001	D	1.000	D	0.895	L	-0.45	T	-0.196	T	0.368	T	0.835	2.376	13.90	6.08	2.894	3.568	18.844	0.255	0.0433661411829	.	.	8.247e-06	0	0	0	0	0	0	6.059e-05	6.5e-06	1	154602	rs201672132	4.789e-06	4.788e-06	1.361e-06	8.251e-06	8.115e-05	1.99e-06	1.28e-06	3.765e-05	2.662e-05	0	0	0	0	0	0	0	0	8.115e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.013	0.63109	D	0.999	0.77913	D	0.946	0.68276	D	0.000964	0.40836	D	0.183008	0.832167	0.34935	D	0.805	0.20218	L	-0.45	0.69896	T	0.68	0.02228	N	0.469	0.50508	-0.1961	0.77772	T	0.368	0.72780	T	10	0.444987	0.58339	T	0.043366	0.60946	D	0.255	0.56562	0.155	0.05858	0.521320446786	0.51775	0.315644848105903	0.31477	1.01034436658	0.74745	0.626671791077	0.56673	T	0.281625	0.65435	T	0.0878236	0.62942	D	0.069904	0.74905	D	0.540819104460931	0.34134	D	0.788521	0.42806	T	0.13088256	0.30526	0.277529	0.53707	0.13088256	0.30526	0.277529	0.53706	-1.181	0.01224	T	0.1857757489163677	0.24153	0.250	0.48500	B	.;.	.;.	4.618864	0.73326	26.0	0.99414234501603294	0.63453	0.96928	0.71708	D	AEFBI	0.715642	0.66774	D	0.628857225316198	0.75006	6.230457	0.67655277247966	0.80603	7.33541	0.939639199632134	0.27396	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	6.08	6.08	0.98982	4.436000	0.59691	11.868000	0.98498	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.0:0.0:1.0:0.0	18.844	0.92165	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	2678.98	94	chr18	44950971	.	G	C	2678.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.21;DP=1394;ExcessHet=0.0000;FS=1.726;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.70;ReadPosRankSum=1.13;SOR=0.856	GT:AD:DP:GQ:PL	0/1:112,99:211:99:2693,0,2899	20	0	1	0
chr18	50729407	50729407	C	A	exonic	MAPK4	.	nonsynonymous SNV	MAPK4:NM_001292039:exon5:c.C684A:p.D228E	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.916	D	0.000	D	1.000	D	1.04	L	0.97	T	-0.070	T	0.411	T	0.303	3.915	19.91	3.39	1.314	0.776	12.341	0.131	0.137714037747	8.1e-05	0.000599042	0.0008	0.0005	0.0019	0	0	0.0002	0	0.0019	0.0002329	36	154602	rs201371342	0.0002	0.0002	0.0001	0.0003	0.0020	0.0002	0.0002	0.0017	0.0016	6.142e-05	0.0006	7.922e-05	0	0	0.0011	6.443e-05	0.0003	0.0020	0.0002	0.0002	0.0002	0.0003	0.0014	0.0002	0.0001	0.0007	0.0005	0	0	0.0005	0	0	0	0	0.0002	0.0009	0.0014	0.0	0.91255	D	0.006	0.92824	D	0.997	0.70673	D	0.916	0.65201	D	0.000334	0.45700	D	0.088588	0.978509	0.81001	D	2.345	0.67358	M	-1.45	0.80899	T	-1.2	0.30555	N	0.219	0.56919	-0.0695	0.80792	T	0.411	0.75971	T	10	0.019358367	0.00431	T	0.137714	0.82021	D	0.131	0.35738	0.328	0.31196	0.85893819593	0.85757	0.5074057042874711	0.50662	1.50542237494	0.87122	0.761436581612	0.76142	T	0.07206	0.34361	T	-0.28075	0.10587	T	-0.195069	0.55112	T	0.0520174781616732	0.05849	T	0.884712	0.61435	D	0.4102424	0.61435	0.35359463	0.60918	0.4102424	0.61436	0.35359463	0.60917	-3.124	0.11574	T	.	.	0.700	0.80866	P	.;.	.;.	3.345525	0.46121	22.2	0.99646354027403994	0.77005	0.94646	0.61848	D	AEFBI	0.366779	0.45447	N	0.340540738386403	0.58242	3.995335	0.333272263019057	0.57506	3.916521	0.00259513010956451	0.09558	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.51	3.39	0.37919	0.558000	0.23174	2.089000	0.30537	0.596000	0.33519	0.997000	0.40164	1.000000	0.68203	0.999000	0.91618	0.0:0.8325:0.0:0.1675	12.341	0.54421	734	0.53889	.;.	.	.	.	.	.	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	1075.98	35	chr18	50729407	.	C	A	1075.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.240e-01;DP=793;ExcessHet=0.0000;FS=5.746;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.96;ReadPosRankSum=-2.230e-01;SOR=0.296	GT:AD:DP:GQ:PL	0/1:41,42:83:99:1090,0,1069	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|1:111,14:125:99:0|1:51177112_A_G:116,0,2853:51177112	14	0	6	1
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	0/1:72,25:97:99:.:.:111,0,1598	0	0	20	1
chr18	79373903	79373903	A	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.A3076G:p.I1026V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.003	B	0.000	N	1.000	D	-0.06	N	-0.34	T	-1.000	T	0.106	T	0.201	-0.358	2.310	3.71	0.793	5.868	10.024	0.086	0.0104317513341	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0012	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	0.0003	0	0.0001	2.767e-05	4.173e-05	0.0005	0.0005	0.0003	0.0001	0	6.588e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.002	0.08700	B	0.000007	0.62929	N	0.106321	0.999956	0.52396	D	.	.	.	-0.34	0.68474	T	0.49	0.02993	N	0.356	0.39760	-1.0003	0.29831	T	0.106	0.38685	T	10	0.17882419	0.32987	T	0.010432	0.26958	T	0.125	0.34456	0.516	0.61611	0.557831953242	0.55443	0.32797818657124184	0.32710	0.19016546305	0.21331	0.641342043877	0.58755	T	0.051017	0.28760	T	-0.0924065	0.37678	T	-0.370512	0.36829	T	0.962732970714569	0.66454	D	0.929107	0.73907	D	0.025876695	0.01576	0.035724007	0.02878	0.025876695	0.01576	0.035724007	0.02878	-4.704	0.33453	T	.	.	0.076	0.05756	B	.;.	.;.	1.506156	0.19358	14.22	0.4022302230854744	0.02825	0.97863	0.77695	D	AEFBI	0.690181	0.65060	D	-0.529217151314464	0.21140	1.119708	-0.32364514690563	0.27337	1.516199	0.922846515319302	0.26722	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.71	0.41733	5.906000	0.69639	0.174000	0.15553	0.756000	0.94297	1.000000	0.71638	0.001000	0.17328	0.726000	0.34967	0.9163:0.0:0.0837:0.0	10.024	0.41234	.	.	P-type ATPase, 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	0.2308	1270.66	37	chr18	79373903	.	A	G	1270.66	.	AC=6;AF=0.231;AN=26;BaseQRankSum=-1.120e+00;DP=912;ExcessHet=2.0135;FS=176.158;InbreedingCoeff=-0.3148;MLEAC=8;MLEAF=0.308;MQ=60.00;MQRankSum=0.00;QD=5.08;ReadPosRankSum=0.253;SOR=8.379	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,8:34:99:0|1:79373902_C_T:145,0,1007:79373902	7	0	6	8
chr18	79373905	79373905	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3078G:p.I1026M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.354	B	0.097	B	0.000	D	1.000	D	2.775	M	-0.78	T	-0.794	T	0.230	T	0.523	1.377	10.53	-2.28	-0.455	-0.373	8.239	0.085	0.0345994434534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008	0.0038	0.0009	0.0008	0.0010	0.0008	0.0008	0.0010	0.0009	0.0006	2.243e-05	0.0002	0.0001	1.877e-05	0.0007	0.0010	0.0008	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.26409	T	0.131	0.34959	T	0.354	0.33710	B	0.045	0.30390	B	0.000007	0.62929	D	0.106321	1	0.81001	D	.	.	.	-0.78	0.73631	T	-1.25	0.31576	N	0.772	0.80473	-0.7945	0.55467	T	0.230	0.59608	T	10	0.6346408	0.68711	D	0.034599	0.55783	D	0.342	0.66392	0.54	0.65161	0.652458548239	0.64956	0.694288075113171	0.69369	0.260033580267	0.28572	0.683687150478	0.64798	T	0.10075	0.40685	T	-0.0241352	0.48263	T	-0.272445	0.47572	T	0.36296334862709	0.27525	T	0.933407	0.75038	D	0.09914479	0.23395	0.10145065	0.24287	0.09914479	0.23395	0.10145065	0.24286	-6.858	0.52989	T	.	.	0.133	0.28835	B	.;.	.;.	1.363101	0.17722	13.33	0.95841953356481135	0.27968	0.40437	0.26436	N	AEFBI	0.191278	0.31848	N	-0.675120176808742	0.16732	0.8550748	-0.728338547967329	0.16257	0.8591364	0.00264162814707333	0.09600	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	-2.28	0.06438	-0.715000	0.05099	-0.654000	0.08013	-0.182000	0.10109	0.002000	0.15269	0.008000	0.19753	0.773000	0.36634	0.0995:0.4512:0.0:0.4493	8.239	0.30810	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	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	2387.64	32	chr18	79373905	.	C	G	2387.64	.	AC=10;AF=0.500;AN=20;BaseQRankSum=2.00;DP=837;ExcessHet=9.8992;FS=418.465;InbreedingCoeff=-0.4008;MLEAC=16;MLEAF=0.800;MQ=60.00;MQRankSum=0.00;QD=6.15;ReadPosRankSum=1.06;SOR=9.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,8:34:99:0|1:79373902_C_T:145,0,1007:79373902	0	0	10	11
chr18	79373906	79373906	C	G	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079G:p.L1027V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.019	B	0.031	B	0.000	D	1.000	D	0.325	N	-1.0	T	-0.993	T	0.086	T	0.404	1.590	11.27	3.95	2.415	0.944	7.951	0.179	0.0300084248149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	1.363e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.066	0.44501	T	0.011	0.17989	B	0.014	0.21939	B	0.000044	0.53742	D	0.072519	1	0.81001	D	.	.	.	-1.0	0.76037	T	0.63	0.02404	N	0.643	0.67132	-0.9931	0.31801	T	0.086	0.33578	T	10	0.3595691	0.52622	T	0.030008	0.52407	D	0.228	0.52768	0.556	0.67409	0.716971919736	0.71448	0.6714160944778895	0.67079	0.231826800128	0.25737	0.712757587433	0.68993	T	0.06665	0.32998	T	-0.00324871	0.51206	T	-0.242443	0.50560	T	0.988950908184052	0.79227	D	0.769823	0.39947	T	0.086578995	0.20131	0.08379029	0.19227	0.086578995	0.20130	0.08379029	0.19227	-9.254	0.75058	D	.	.	0.157	0.34775	B	.;.	.;.	2.695608	0.35200	19.83	0.99167772354724137	0.54298	0.79215	0.39211	D	AEFBI	0.229011	0.35260	N	-0.22633195655759	0.32055	1.803854	-0.118404370068464	0.34647	1.995432	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,8,0:34:99:0|1:79373902_C_T:145,0,1007,223,1031,1254:79373902	4	0	7	9
chr18	79373906	79373906	C	T	exonic	ATP9B	.	nonsynonymous SNV	ATP9B:NM_001306085:exon28:c.C3079T:p.L1027F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.682	P	0.361	B	0.000	D	1.000	D	0.83	L	-1.06	T	-0.935	T	0.119	T	0.428	2.268	13.54	3.95	2.415	0.944	7.951	0.093	0.0284690929236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	6.84e-07	0	1.376e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.554	0.41464	P	0.197	0.43233	B	0.000044	0.53742	D	0.072519	0.999999	0.58761	D	.	.	.	-1.06	0.76819	T	-2.04	0.46842	N	0.573	0.62950	-0.9349	0.43409	T	0.119	0.41648	T	10	0.361637	0.52779	T	0.028469	0.51139	D	0.365	0.68495	0.508	0.60386	0.815369968599	0.81363	0.8176144227679487	0.81718	0.338732872668	0.35836	0.746733427048	0.73965	T	0.144628	0.48135	T	0.0232865	0.54826	T	-0.204327	0.54237	T	0.985363662242889	0.76380	D	0.961204	0.85427	D	0.28799716	0.51806	0.31295186	0.57294	0.28799716	0.51806	0.31295186	0.57294	-11.447	0.83762	D	.	.	0.676	0.71986	P	.;.	.;.	3.098208	0.41745	21.4	0.99739806707809964	0.83409	0.69529	0.34224	D	AEFBI	0.189841	0.31708	N	-0.293001453477025	0.29417	1.631174	-0.168557634840095	0.32700	1.863048	0.0147255712762604	0.12630	0.706298	0.61202	0	0.694456	0.67091	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	4.89	3.95	0.44952	0.466000	0.21731	3.026000	0.36022	0.599000	0.40250	0.056000	0.21631	0.996000	0.32793	0.811000	0.38219	0.1604:0.7591:0.0:0.0805	7.951	0.29178	.	.	P-type ATPase, C-terminal;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.3333	2047.46	32	chr18	79373906	.	C	G,T	2047.46	.	AC=7,1;AF=0.292,0.042;AN=24;BaseQRankSum=-8.380e-01;DP=858;ExcessHet=5.5058;FS=304.536;InbreedingCoeff=-0.1933;MLEAC=11,2;MLEAF=0.458,0.083;MQ=60.00;MQRankSum=0.00;QD=6.54;ReadPosRankSum=1.07;SOR=9.346	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,8,0:34:99:0|1:79373902_C_T:145,0,1007,223,1031,1254:79373902	4	0	7	9
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	0/1:30,39,0,0:69:99:.:.:1438,0,1061,1535,1179,2713,1535,1179,2713,2713	1	10	5	0
chr19	1068707	1068707	G	C	exonic	ARHGAP45	.	nonsynonymous SNV	ARHGAP45:NM_001258328:exon2:c.G432C:p.E144D	.	.	411	1110	1	0	0	1	0.000450248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	T	0.021	B	0.013	B	0.000	D	1.000	D	0.315	N	2.12	T	-1.024	T	0.021	T	0.062	1.308	10.28	1.99	0.396	0.827	3.689	0.099	0.00851865117645	.	.	7.015e-05	0	0	0	0	0	0	0.0005	5.17e-05	8	154602	rs761820917	2.397e-05	2.394e-05	1.635e-05	3.166e-05	0.0003	1.74e-05	1.54e-05	0.0002	0.0002	0	0	0	0	0	0	3.597e-06	4.968e-05	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382	0.11120	T	1.0	0.19131	T	0.012	0.16265	B	0.008	0.13708	B	0.000018	0.62929	D	0.065834	0.73527	0.81001	D	0.34	0.10450	N	2.12	0.50976	T	-0.27	0.11366	N	0.175	0.22228	-1.0245	0.22246	T	0.021	0.08963	T	10	0.055672556	0.06121	T	0.008519	0.22532	T	0.099	0.28413	0.237	0.16760	0.139678290688	0.13603	0.4743057284776703	0.47349	0.660444123774	0.58870	0.434143871069	0.29775	T	0.019887	0.15761	T	-0.508701	0.00510	T	-0.62576	0.10738	T	0.0582356993620753	0.06887	T	0.854615	0.54143	D	0.093667746	0.22004	0.05040063	0.07904	0.093667746	0.22004	0.05040063	0.07903	-6.69	0.53070	T	.	.	0.129	0.40714	B	.;.;.;.;.	.;.;.;.;.	2.274212	0.29073	18.00	0.97039749326551916	0.32105	0.81888	0.41204	D	AEFDGBCIJ	0.422311	0.48837	N	-0.586735828800421	0.19347	1.011816	-0.429355418707364	0.24140	1.320268	0.99999981901958	0.74766	0.646311	0.45356	0	0.52208	0.09955	0	0.645312	0.48771	0	0.526803	0.08958	0	.	.	4.22	1.99	0.25423	0.629000	0.24229	2.848000	0.35122	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.539000	0.29915	0.1921:0.0:0.4396:0.3683	3.689	0.07873	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	0.02381	1114.98	62	chr19	1068707	.	G	C	1114.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.510e+00;DP=849;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=2.05;SOR=0.718	GT:AD:DP:GQ:PL	0/1:60,50:110:99:1129,0,1611	20	0	1	0
chr19	2916092	2916092	T	G	exonic	ZNF57	.	nonsynonymous SNV	ZNF57:NM_001319083:exon3:c.T49G:p.F17V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.994	D	0.908	P	.	.	1.000	N	-0.695	N	6.05	T	-0.945	T	0.013	T	0.297	-0.967	0.313	1.36	0.882	-0.620	4.920	0.071	0.000965720772181	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.482	0.18071	T	0.994	0.66517	D	0.908	0.64494	P	.	.	.	.	1	0.08975	N	-0.4	0.02994	N	3.57	0.05440	T	-1.71	0.40660	N	0.143	0.17002	-0.9451	0.41797	T	0.013	0.04985	T	9	0.08303878	0.13770	T	9.66E-4	0.00980	T	0.071	0.20720	0.354	0.35408	0.249502417897	0.24576	0.024564068952891576	0.02407	0.0339494246534	0.03563	0.383369028568	0.22734	T	0.003111	0.20077	T	-0.261517	0.12723	T	-0.613427	0.11708	T	0.0907943986532819	0.11312	T	0.369963	0.28413	T	0.13778023	0.31888	0.08918194	0.20839	0.13778023	0.31888	0.08918194	0.20839	-5.055	0.37431	T	.	.	0.105	0.43060	B	.;.;.;.	.;.;.;.	0.290398	0.06670	3.169	0.81514085679319126	0.13723	0.01643	0.05285	N	AEFDBI	0.023759	0.01370	N	-0.674099466726954	0.16762	0.8568519	-0.847439216846972	0.13349	0.6920185	1.33361483427879E-4	0.05486	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.36	1.36	0.21139	-0.995000	0.03823	-13.676000	0.00445	0.638000	0.52053	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.0:0.0:1.0	4.920	0.13216	994	0.00715	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	1	0	0	0	0.02381	1108.98	38	chr19	2916092	.	T	G	1108.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.700e-02;DP=905;ExcessHet=0.0000;FS=0.864;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.79;ReadPosRankSum=-5.710e-01;SOR=0.593	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1123,0,855	20	0	1	0
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	17845.03	225	chr19	4511563	.	C	G,*	17845.03	.	AC=5,1;AF=0.179,0.036;AN=28;BaseQRankSum=2.12;DP=9752;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.1556;MLEAC=7,1;MLEAF=0.250,0.036;MQ=59.57;MQRankSum=-4.184e+00;QD=4.80;ReadPosRankSum=-5.230e+00;SOR=0.700	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:363,87,0:450:99:.:.:2357,0,11088,3446,11349,14795	8	0	5	7
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16971.48	491	chr19	4511566	.	A	G,*	16971.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-9.560e-01;DP=10566;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.53;MQRankSum=-3.775e+00;QD=4.50;ReadPosRankSum=-5.408e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:377,73,0:450:99:0|1:4511566_A_G:1879,0,15604,3014,15823,18837:4511566	5	0	5	10
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	16047.48	490	chr19	4511568	.	C	T,*	16047.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=-4.580e-01;DP=10596;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.50;MQRankSum=-3.556e+00;QD=4.25;ReadPosRankSum=-5.809e+00;SOR=0.715	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:381,73,0:454:99:0|1:4511566_A_G:1867,0,15771,3014,15991,19005:4511566	5	0	5	10
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	15602.48	490	chr19	4511569	.	A	G,*	15602.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=5.73;DP=10604;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.48;MQRankSum=-3.635e+00;QD=4.12;ReadPosRankSum=-5.967e+00;SOR=0.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:382,71,0:453:99:0|1:4511566_A_G:1809,0,15819,2959,16033,18992:4511566	5	0	5	10
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8809.48	466	chr19	4511586	.	A	G,*	8809.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=3.88;DP=10439;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.07;MQRankSum=-2.351e+00;QD=2.30;ReadPosRankSum=-8.743e+00;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:430,54,0:484:99:0|1:4511566_A_G:973,0,17886,2267,18049,20316:4511566	5	0	5	10
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2727	8200.48	466	chr19	4511587	.	C	G,*	8200.48	.	AC=5,1;AF=0.227,0.045;AN=22;BaseQRankSum=2.38;DP=10432;ExcessHet=2.1469;FS=0.000;InbreedingCoeff=-0.2408;MLEAC=8,2;MLEAF=0.364,0.091;MQ=59.03;MQRankSum=-2.455e+00;QD=2.14;ReadPosRankSum=-8.658e+00;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:435,51,0:486:99:0|1:4511566_A_G:832,0,18105,2141,18259,20400:4511566	5	0	5	10
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8333	177671.52	322	chr19	4511635	.	C	G,*	177671.52	.	AC=25,1;AF=0.833,0.033;AN=30;BaseQRankSum=-7.580e-01;DP=10056;ExcessHet=0.2174;FS=0.730;InbreedingCoeff=0.2169;MLEAC=32,1;MLEAF=1.00,0.033;MQ=57.70;MQRankSum=-7.188e+00;QD=24.86;ReadPosRankSum=1.56;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,477,0:477:99:.:.:15775,1430,0,15775,1430,15775	0	10	4	6
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8462	139194.31	100	chr19	4511713	.	T	C,*	139194.31	.	AC=22,1;AF=0.846,0.038;AN=26;BaseQRankSum=1.87;DP=8565;ExcessHet=0.0976;FS=2.619;InbreedingCoeff=0.3015;MLEAC=31,1;MLEAF=1.00,0.038;MQ=56.56;MQRankSum=-1.881e+00;QD=32.62;ReadPosRankSum=-5.445e+00;SOR=0.966	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,582,0:582:99:1|1:4511713_T_C:25872,1752,0,25872,1752,25872:4511713	0	9	3	8
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6923	139161.99	105	chr19	4511718	.	T	*,C	139161.99	.	AC=1,18;AF=0.038,0.692;AN=26;BaseQRankSum=2.11;DP=8846;ExcessHet=2.2649;FS=2.542;InbreedingCoeff=-0.0055;MLEAC=1,25;MLEAF=0.038,0.962;MQ=56.65;MQRankSum=-5.673e+00;QD=32.12;ReadPosRankSum=0.575;SOR=0.899	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,606:606:99:1|1:4511713_T_C:26752,26752,26752,1823,1823,0:4511713	0	0	0	8
chr19	4954746	4954746	G	A	exonic	UHRF1	.	nonsynonymous SNV	UHRF1:NM_013282:exon14:c.G2093A:p.R698K	.	.	433	1049	38	2	0	42	0.0196262	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.022	N	0.992	N	.	.	.	.	-0.966	T	0.025	T	.	-1.595	0.014	-6.23	-1.749	1.268	9.401	0.052	.	0.0041	0.00279553	0.0049	0.0008	0.0021	0	0.0015	0.0056	0.0045	0.0106	0.0005692	88	154602	rs62621801	0.0052	0.0052	0.0048	0.0055	0.0140	0.0051	0.0050	0.0118	0.0116	0.0007	0.0028	0.0143	5.038e-05	0.0010	0.0140	0.0049	0.0064	0.0124	0.0042	0.0042	0.0043	0.0040	0.0131	0.0039	0.0038	0.0105	0.0095	0.0008	0	0.0042	0.0147	0.0002	0.0009	0.0034	0.0058	0.0076	0.0131	.	.	.	1.0	0.04603	T	0.0	0.02946	B	0.001	0.04355	B	0.021601	0.26803	N	0.389904	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.07125	-0.9664	0.37934	T	0.025	0.10598	T	7	0.0033281147	0.00057	T	.	.	.	.	.	.	.	0.0986583533028	0.09354	0.5011052632260251	0.50032	.	.	0.265116155148	0.05515	T	0.084796	0.37357	T	-0.781554	0.00011	T	-0.886029	0.00606	T	0.0148856521144319	0.00315	T	0.783522	0.42019	T	0.14534879	0.33323	0.118098706	0.28508	0.14534879	0.33323	0.118098706	0.28508	-3.702	0.19348	T	.	.	0.060	0.01011	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.138487	0.05329	1.817	0.50478674859723482	0.04391	0.14024	0.18181	N	AEFGBHI	.	.	.	-1.61723298231365	0.01181	0.05133813	-1.65181575236333	0.01366	0.06172264	0.033033839052933	0.14085	0.156188	0.03335	0	0.12628	0.03447	0	0.17184	0.04098	0	0.221052	0.04502	0	0.193795	0.30138	4.78	-6.23	0.01875	1.269000	0.32677	0.576000	0.19656	-1.899000	0.00526	0.978000	0.35038	0.380000	0.24611	0.038000	0.14061	0.2793:0.0:0.5268:0.1939	9.401	0.37594	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	0.04762	4707.11	40	chr19	4954746	.	G	A	4707.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.49;DP=1160;ExcessHet=0.1072;FS=1.679;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=55.71;MQRankSum=-5.770e-01;QD=12.49;ReadPosRankSum=-6.230e-01;SOR=0.600	GT:AD:DP:GQ:PL	0/1:95,92:187:99:2148,0,2224	19	0	2	0
chr19	5931429	5931429	G	C	exonic	RANBP3	.	nonsynonymous SNV	RANBP3:NM_001300865:exon7:c.C464G:p.A155G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.31	T	0.07	B	0.023	B	0.281	N	1.000	N	0	N	2.21	T	-1.021	T	0.043	T	0.089	1.220	9.951	2.4	0.448	0.372	7.655	0.024	0.0149100908452	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	1.368e-06	0	2.754e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.998e-07	0	0	6.568e-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	0.008	0.58626	D	0.402	0.18903	T	0.07	0.23866	B	0.023	0.19966	B	0.280732	0.03832	N	1.541880	1	0.08975	N	0.895	0.22405	L	1.47	0.32238	T	-0.44	0.22727	N	0.124	0.15469	-1.0207	0.23486	T	0.043	0.18410	T	10	0.05209562	0.05192	T	0.01491	0.35329	T	0.024	0.04979	0.117	0.02508	0.412434490787	0.40856	0.10940687521098946	0.10869	0.486089516762	0.47482	0.369136691093	0.20709	T	0.048093	0.27915	T	-0.258639	0.13059	T	-0.609293	0.12043	T	0.0798596721925946	0.09969	T	0.856214	0.54939	D	0.07901823	0.18028	0.06089924	0.11671	0.07901823	0.18027	0.06089924	0.11671	-3.732	0.21223	T	.	.	0.086	0.14293	B	.;.;.;.;.	.;.;.;.;.	1.273128	0.16720	12.72	0.88579344731404985	0.18088	0.07617	0.13626	N	AEFBI	0.103376	0.20713	N	-0.986406697519456	0.08893	0.4187593	-0.971141549688822	0.10436	0.5256424	0.911819512228557	0.26377	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	4.59	2.4	0.28568	0.882000	0.27824	2.776000	0.34703	0.671000	0.69459	0.075000	0.22209	0.919000	0.28284	0.051000	0.15275	0.0:0.1798:0.634:0.1862	7.655	0.27536	862	0.33134	.;.;.;.;.	.	.	.	.	.	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	1453.98	35	chr19	5931429	.	G	C	1453.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.230e+00;DP=827;ExcessHet=0.0000;FS=1.396;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.18;ReadPosRankSum=-3.640e-01;SOR=0.540	GT:AD:DP:GQ:PL	0/1:70,60:130:99:1468,0,1816	20	0	1	0
chr19	6467617	6467617	G	A	exonic	DENND1C	.	nonsynonymous SNV	DENND1C:NM_001290331:exon21:c.C2161T:p.R721W	.	.	.	.	.	.	.	.	.	.	.	2374163	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.19	T	0.092	B	0.003	B	0.002	N	1.000	N	0	N	3.05	T	-1.051	T	0.019	T	0.119	1.958	12.51	3.38	1.907	1.795	10.502	0.077	0.0095735999313	0.0002	0.000399361	8.224e-05	0.0010	0	0	0	0	0	0	7.12e-05	11	154602	rs374565278	4.025e-05	4.583e-05	5.039e-05	2.992e-05	0.0012	3.145e-05	2.872e-05	0.0009	0.0008	0.0012	8.614e-05	0	0	1.916e-05	0	2.744e-06	8.576e-05	8.903e-05	0.0003	0.0003	0.0003	0.0002	0.0008	0.0002	0.0002	0.0006	0.0005	0.0008	0	0.0001	0	0	0	0	1.47e-05	0.0005	0.0002	0.021	0.49117	D	0.018	0.59732	D	0.092	0.25296	B	0.003	0.08700	B	0.001815	0.00828	N	4.120030	1	0.08975	N	0	0.06538	N	3.05	0.10291	T	-0.53	0.16393	N	0.084	0.12770	-1.0506	0.14230	T	0.019	0.08126	T	10	0.016964525	0.00360	T	0.009574	0.25039	T	0.077	0.22490	.	.	0.137902524267	0.13322	0.1093282701462729	0.10861	0.0566683192148	0.06263	0.275156855583	0.06827	T	0.002409	0.01807	T	-0.573303	0.00211	T	-0.663763	0.08015	T	0.0262225927540849	0.01436	T	0.423058	0.11286	T	0.064877644	0.13809	0.041405663	0.04698	0.064877644	0.13808	0.041405663	0.04697	-4.021	0.26039	T	.	.	0.076	0.08609	B	.;.	.;.	2.138973	0.27237	17.39	0.9847418268621595	0.41896	0.12018	0.17008	N	AEFDBI	0.190449	0.31768	N	-0.86707965265971	0.11632	0.5624055	-0.854808395728296	0.13172	0.6818816	0.954975229305206	0.28162	0.706298	0.61202	0	0.643519	0.57511	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.38	3.38	0.37806	2.014000	0.40571	2.384000	0.32503	0.618000	0.50648	0.015000	0.19116	0.055000	0.21918	0.001000	0.02609	0.0:0.0:1.0:0.0	10.502	0.44002	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	0.02381	1232.98	33	chr19	6467617	.	G	A	1232.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.20;DP=783;ExcessHet=0.0000;FS=6.477;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.84;ReadPosRankSum=0.415;SOR=1.088	GT:AD:DP:GQ:PL	0/1:51,45:96:99:1247,0,1234	20	0	1	0
chr19	7125507	7125507	C	T	exonic	INSR	.	nonsynonymous SNV	INSR:NM_001079817:exon16:c.G2998A:p.V1000M	Diabetes mellitus, insulin-resistant, with acanthosis nigricans;Hyperinsulinemic hypoglycemia, familial, 5, Autosomal dominant;Leprechaunism, Autosomal recessive;Rabson-Mendenhall syndrome, Autosomal recessive	.	0	1450	72	0	0	72	0.0242261	.	.	29746	Insulin-resistant_diabetes_mellitus_AND_acanthosis_nigricans|Bailey-Bloch_congenital_myopathy|Leprechaunism_syndrome|Rabson-Mendenhall_syndrome|not_specified|Type_2_diabetes_mellitus|Monogenic_diabetes|not_provided	MONDO:MONDO:0012520,MedGen:C0342278,OMIM:610549,Orphanet:2297|MONDO:MONDO:0009722,MedGen:C1850625,OMIM:255995,Orphanet:168572|MONDO:MONDO:0009517,MedGen:C0265344,OMIM:246200,Orphanet:508|MONDO:MONDO:0009874,MedGen:C0271695,OMIM:262190,Orphanet:769|MedGen:CN169374|Human_Phenotype_Ontology:HP:0005965,Human_Phenotype_Ontology:HP:0005978,Human_Phenotype_Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0	D	0.998	D	0.768	P	0.001	D	0.925	A	2.475	M	-2.51	D	0.644	D	0.669	D	0.74	4.180	21.6	5.06	2.638	3.050	9.350	0.634	.	0.0064	0.00499201	0.0090	0.0018	0.0021	0	0.0067	0.0093	0.0111	0.0225	0.0084346	1304	154602	rs1799816	0.0078	0.0078	0.0070	0.0085	0.0231	0.0076	0.0076	0.0222	0.0219	0.0012	0.0022	0.0161	5.038e-05	0.0069	0.0165	0.0070	0.0084	0.0231	0.0054	0.0054	0.0054	0.0054	0.0178	0.0051	0.0050	0.0148	0.0137	0.0013	0	0.0047	0.0147	0.0002	0.0059	0.0170	0.0071	0.0047	0.0178	0.003	0.68238	D	0.016	0.60972	D	0.998	0.73220	D	0.768	0.56752	P	0.000878	0.41335	D	0.000000	0.925322	0.36801	A	2.875	0.83380	M	-2.51	0.89293	D	-2.42	0.53096	N	0.437	0.47580	0.644	0.92468	D	0.669	0.88531	D	9	0.010013849	0.00224	T	.	.	.	0.634	0.85975	.	.	0.952044451625	0.95153	0.5662976708801534	0.56557	1.39719179774	0.85110	0.765782415867	0.76792	T	0.663144	0.89916	D	-0.0943111	0.37363	T	0.108672	0.77484	D	0.0531365021631275	0.06042	T	0.915508	0.69822	D	0.26451603	0.49519	0.32346871	0.58278	0.36734384	0.58388	0.22650576	0.47629	-9.917	0.73413	D	0.4521786783482736	0.53580	0.193	0.41357	B	.;.	.;.	4.485617	0.70018	25.5	0.99905905516237403	0.97651	0.90575	0.51865	D	AEFDBI	0.348033	0.44230	N	0.624024580061145	0.74697	6.176896	0.605951008884235	0.75372	6.298788	0.99957825998006	0.40495	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.662433	0.64102	0	.	.	5.06	5.06	0.67838	2.609000	0.45981	7.593000	0.61311	0.599000	0.40250	0.987000	0.36337	1.000000	0.68203	0.989000	0.64315	0.0:0.9053:0.0:0.0947	9.350	0.37291	889	0.27310	.;.	.	.	.	.	.	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	2115.98	38	chr19	7125507	.	C	T	2115.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.19;DP=1012;ExcessHet=0.0000;FS=2.102;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.83;ReadPosRankSum=-6.800e-02;SOR=0.878	GT:AD:DP:GQ:PL	0/1:75,78:153:99:2130,0,1766	20	0	1	0
chr19	7870294	7870294	C	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.G2950A:p.A984T,	.	.	340	1178	4	0	0	4	0.00169492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.313	B	0.046	B	.	.	1.000	N	2.045	M	.	.	-1.039	T	0.061	T	0.176	0.072	4.390	0.722	0.256	-0.198	5.553	0.031	.	.	0.00319489	0.0133	0	0	0	0	0.02	.	0	0.0004722	73	154602	rs138896713	0.0082	0.0071	0.0082	0.0082	0.0093	0.0081	0.0080	0.0092	0.0091	0.0010	0.0048	0.0074	0	0.0008	0.0007	0.0093	0.0069	0	0.0043	0.0053	0.0048	0.0039	0.0066	0.0040	0.0039	0.0060	0.0058	0.0014	0	0.0042	0.0060	0	0.0002	0.0063	0.0066	0.0053	0	.	.	.	0.341	0.17964	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.049	0.02088	-1.0388	0.17678	T	0.061	0.25310	T	8	0.003385067	0.00059	T	.	.	.	.	.	.	.	0.0138822411134	0.00435	0.1120410950803723	0.11133	.	.	0.549222052097	0.45748	T	0.020862	0.16347	T	-0.524545	0.00414	T	-0.515861	0.20715	T	0.0226574434323909	0.00983	T	0.349965	0.07784	T	0.06791743	0.14750	0.06589508	0.13421	0.06791743	0.14750	0.06589508	0.13420	-6.932	0.53536	T	.	.	0.143	0.31583	B	.	.	0.500233	0.08693	5.466	0.37704475013879407	0.02500	0.01741	0.05494	N	ALL	0.030969	0.03219	N	-0.907647495592968	0.10662	0.5105892	-1.038936131596	0.08939	0.4420422	0.999896565493851	0.45129	0.839682	0.99964	0	0.607795	0.50457	0	0.736553	0.94036	0	0.562822	0.20929	0	.	.	3.03	0.722	0.17379	-0.575000	0.05953	-2.220000	0.04039	-0.705000	0.03985	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6997:0.0:0.3003	5.553	0.16388	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	1	0	0	0	0.05	1786.8	39	chr19	7870294	.	C	T	1786.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=-9.080e-01;DP=992;ExcessHet=0.1072;FS=2.801;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=60.00;MQRankSum=0.00;QD=11.38;ReadPosRankSum=0.160;SOR=0.694	GT:AD:DP:GQ:PL	0/1:36,35:71:99:804,0,885	18	0	2	1
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	0/1:74,17:94:7:.:.:7,0,1795	10	0	10	1
chr19	7872929	7872929	A	T	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon4:c.T407A:p.I136N,	.	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	.	.	.	.	.	.	1.000	N	0	N	.	.	-1.020	T	0.031	T	0.102	-0.445	1.934	-0.959	-0.030	0.779	5.347	0.014	.	.	0.00279553	0.0024	0.0072	0	0	0	0.0070	0	0	0.0012354	191	154602	rs147331962	0.0074	0.0071	0.0075	0.0074	0.0088	0.0073	0.0073	0.0087	0.0086	0.0009	0.0039	0.0077	0	0.0009	0.0007	0.0088	0.0063	3.786e-05	0.0046	0.0046	0.0052	0.0041	0.0075	0.0043	0.0042	0.0070	0.0068	0.0016	0	0.0048	0.0081	0	0.0003	0.0136	0.0075	0.0090	0	.	.	.	0.242	0.24264	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.364	0.40565	-1.0195	0.23877	T	0.031	0.13418	T	6	0.005706668	0.00127	T	.	.	.	.	.	.	.	0.252681307341	0.24864	0.036222337537804586	0.03569	.	.	0.429368138313	0.29121	T	0.008611	0.07893	T	-0.581699	0.00188	T	-0.602373	0.12613	T	0.00177726721740528	0.00018	T	0.485551	0.14815	T	0.065106794	0.13880	0.09458222	0.22395	0.065106794	0.13880	0.09458222	0.22394	-2.89	0.09044	T	.	.	0.360	0.57199	A	.	.	1.697124	0.21620	15.28	0.53742489929016324	0.04999	0.03726	0.09019	N	AEFDBCI	0.074310	0.14891	N	-0.974746795697728	0.09145	0.4316298	-1.09056517935586	0.07885	0.3853692	0.99932338971388	0.39149	0.766844	0.99359	0	0.563428	0.19063	0	0.851219	0.99655	0	0.530356	0.10902	0	.	.	2.8	-0.959	0.09816	0.738000	0.25826	2.043000	0.30309	-0.267000	0.06790	0.001000	0.13787	0.067000	0.22148	0.072000	0.16771	0.4252:0.0:0.5748:0.0	5.347	0.15320	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	0.04762	1892.11	45	chr19	7872929	.	A	T	1892.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-3.100e-02;DP=854;ExcessHet=0.1072;FS=3.151;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.12;ReadPosRankSum=-1.173e+00;SOR=0.450	GT:AD:DP:GQ:PL	0/1:33,38:71:99:1027,0,886	19	0	2	0
chr19	8603793	8603793	G	T	exonic	ADAMTS10	.	nonsynonymous SNV	ADAMTS10:NM_030957:exon5:c.C527A:p.P176Q,	Weill-Marchesani syndrome 1, recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.991	D	0.913	D	0.000	D	1.000	D	2.095	M	3.32	T	-1.231	T	0.056	T	0.85	4.442	23.7	5.72	2.705	9.152	18.867	0.415	0.0141484529073	.	.	1.649e-05	0	0	0	0	2.999e-05	0	0	1.29e-05	2	154602	rs782617164	1.573e-05	1.573e-05	9.529e-06	2.2e-05	0.0002	1.048e-05	8.75e-06	1.213e-05	1.03e-05	0	0	0	0	0	0.0002	1.888e-05	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.11	0.37310	T	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	3.32	0.06214	T	-5.43	0.85323	D	0.905	0.92084	-1.2306	0.00029	T	0.056	0.23715	T	10	0.89904296	0.89263	D	0.014148	0.34071	T	0.415	0.72555	0.579	0.70476	0.60316516996	0.59998	0.8476842614675466	0.84729	1.5592661189	0.88022	0.592181563377	0.51802	T	.	.	.	0.0948601	0.63732	D	-0.0378706	0.67845	D	0.952938914299011	0.63909	D	0.822818	0.48291	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57460	A	.;.	.;.	3.736043	0.53465	23.4	0.99124027890661881	0.53063	0.99328	0.94563	D	AEFDBI	0.891709	0.82794	D	0.812022270118136	0.86851	9.020388	0.800860462447634	0.89854	10.14908	0.999999970626446	0.74766	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.655142	0.61905	0	.	.	5.72	5.72	0.89380	9.306000	0.95285	.	.	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.902000	0.43815	0.0:0.0:1.0:0.0	18.867	0.92263	840	0.37365	Peptidase M12B, propeptide;Peptidase M12B, propeptide	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1406.98	34	chr19	8603793	.	G	T	1406.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.79;DP=801;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.40;ReadPosRankSum=0.683;SOR=0.732	GT:AD:DP:GQ:PL	0/1:54,51:105:99:1421,0,1336	20	0	1	0
chr19	8888733	8888733	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40766G:p.D13589G,	.	.	394	1124	2	2	0	6	0.00266193	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.982	D	0.968	D	.	.	.	.	2.395	M	1.09	T	-0.651	T	0.212	T	0.393	1.662	11.51	2.45	0.542	0.611	5.345	0.044	0.0236134229931	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796460354	0	6.43e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	1.833e-05	0.0030	1.791e-05	1.877e-05	9.259e-05	3.04e-06	1.14e-06	.	.	3.401e-05	0	9.259e-05	0	0	0	0	0	0	0	0.019	0.50132	D	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	0.999995	0.08975	N	.	.	.	1.09	0.39223	T	-1.59	0.38345	N	0.407	0.44761	-0.6514	0.62653	T	0.212	0.57321	T	8	0.20552856	0.36782	T	0.023613	0.46578	T	0.128	0.35103	.	.	0.146414634003	0.14194	0.19770301623938222	0.19687	.	.	0.299555659294	0.10335	T	.	.	.	-0.119382	0.33225	T	-0.409261	0.32310	T	0.348448395729065	0.26958	T	0.735226	0.35154	T	.	.	.	.	.	.	.	.	-7.689	0.58931	D	.	.	0.133	0.28664	B	.	.	1.835629	0.23322	15.97	0.9959769039303753	0.73983	0.08628	0.14530	N	AEFBI	0.055099	0.10074	N	-0.264095193715853	0.30545	1.704151	-0.390882496758417	0.25267	1.388531	2.4161992490188E-5	0.03498	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	2.45	0.28953	0.202000	0.17094	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.226000	0.22626	0.0:0.1363:0.0:0.8637	5.345	0.15307	952	0.10565	SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	512.83	332	chr19	8888733	.	T	C	512.83	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.43;DP=8357;ExcessHet=0.3300;FS=1.030;InbreedingCoeff=-0.1053;MLEAC=3;MLEAF=0.079;MQ=55.95;MQRankSum=-8.927e+00;QD=0.36;ReadPosRankSum=-4.902e+00;SOR=1.024	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:407,32:439:99:0|1:8888733_T_C:119,0,16921:8888733	16	0	3	2
chr19	8888745	8888745	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40754T:p.T13585I,	.	.	393	977	1	2	149	154	0.00255232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.984	D	0.964	D	.	.	.	.	0.49	N	2.21	T	-1.029	T	0.047	T	0.503	2.024	12.72	1.25	0.783	0.218	4.503	0.021	0.00806063036646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75266616	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	8.066e-05	0.0052	9.833e-05	6.207e-05	0.0003	3.961e-05	2.899e-05	3.435e-05	1.476e-05	0.0001	0	0.0002	0	0.0003	0.0001	0	2.348e-05	0	0	0.007	0.59928	D	0.117	0.36365	T	.	.	.	.	.	.	.	.	.	.	0.999919	0.19599	N	.	.	.	2.21	0.18414	T	-1.31	0.32791	N	0.284	0.32148	-1.0288	0.20843	T	0.047	0.19958	T	8	0.19550985	0.35406	T	0.008061	0.21368	T	0.147	0.38986	.	.	0.15556083564	0.15200	0.2225390080387863	0.22168	.	.	0.375644803047	0.21638	T	.	.	.	-0.16957	0.25299	T	-0.481352	0.24304	T	0.344821783264657	0.26815	T	0.0674933	0.00492	T	.	.	.	.	.	.	.	.	-7.428	0.57102	T	.	.	0.116	0.23360	B	.	.	1.705751	0.21725	15.32	0.9981530341282232	0.89885	0.47447	0.27985	N	AEFBI	0.095609	0.19314	N	-0.156012332511241	0.34978	2.00343	-0.1738091635021	0.32503	1.849856	1.14764749978257E-5	0.02871	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.25	0.20475	-0.043000	0.11996	.	.	-0.132000	0.13132	0.926000	0.32145	0.000000	0.08366	0.009000	0.08673	0.1321:0.2319:0.6359:0.0	4.503	0.11285	952	0.10565	SEA domain|SEA domain|SEA 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	0.2778	8877.76	382	chr19	8888745	.	G	A,C	8877.76	.	AC=6,4;AF=0.167,0.111;AN=36;BaseQRankSum=-3.070e-01;DP=10156;ExcessHet=6.1002;FS=0.787;InbreedingCoeff=-0.3771;MLEAC=7,4;MLEAF=0.194,0.111;MQ=56.21;MQRankSum=-1.029e+01;QD=1.61;ReadPosRankSum=-1.286e+00;SOR=0.853	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:444,43,0:487:99:.:.:457,0,18667,1791,16052,17247	8	0	6	3
chr19	8888746	8888746	T	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40753C:p.T13585P,	.	.	389	1129	2	2	0	6	0.00265018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.986	D	0.964	D	.	.	.	.	1.04	L	1.83	T	-0.975	T	0.078	T	0.685	2.193	13.29	1.26	0.083	0.610	2.783	0.243	0.0120267409717	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796543936	6.848e-07	0.0002	1.363e-06	0	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	8.155e-05	0.0054	7.944e-05	8.377e-05	0.0003	3.999e-05	2.926e-05	3.581e-05	1.462e-05	7.564e-05	0	0.0002	0	0.0003	0.0001	0	4.466e-05	0	0	0.003	0.68238	D	0.008	0.67890	D	.	.	.	.	.	.	.	.	.	.	0.999901	0.19694	N	.	.	.	1.83	0.24841	T	-1.47	0.35991	N	0.343	0.38438	-0.9752	0.36082	T	0.078	0.31224	T	8	0.23827633	0.40944	T	0.012027	0.30231	T	0.243	0.54921	.	.	0.183819452728	0.17975	0.3716080186309978	0.37074	.	.	0.330018043518	0.14937	T	.	.	.	-0.0267869	0.47882	T	-0.276254	0.47187	T	0.55762339756057	0.34765	D	0.381362	0.09225	T	.	.	.	.	.	.	.	.	-9.731	0.72285	D	.	.	0.197	0.41903	B	.	.	1.973733	0.25071	16.63	0.99543563627523812	0.70648	0.56973	0.30255	D	AEFBI	0.258310	0.37687	N	0.00527281236618241	0.42094	2.529898	-0.0874775071530277	0.35907	2.083018	1.07242915990077E-5	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.26	0.20534	0.979000	0.29098	.	.	0.639000	0.52094	0.948000	0.32982	0.000000	0.08366	0.008000	0.08271	0.2207:0.1276:0.0:0.6517	2.783	0.05037	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1944	3176.11	382	chr19	8888746	.	T	G	3176.11	.	AC=7;AF=0.194;AN=36;BaseQRankSum=0.772;DP=10365;ExcessHet=2.5830;FS=7.108;InbreedingCoeff=-0.2519;MLEAC=8;MLEAF=0.222;MQ=55.81;MQRankSum=-1.024e+01;QD=0.81;ReadPosRankSum=-3.634e+00;SOR=1.488	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:450,43:493:99:0|1:8888733_T_C:451,0,18751:8888733	11	0	7	3
chr19	8888763	8888763	G	A	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.C40736T:p.T13579I,	.	.	386	1130	5	1	0	7	0.00308778	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.984	D	0.964	D	.	.	.	.	2.79	M	1.22	T	-0.601	T	0.206	T	0.319	0.402	6.184	0.756	0.311	2.938	8.036	0.147	0.0225181638308	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796202949	0	0.0003	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0097	0.0001	0.0003	0.0007	0.0001	0.0001	0.0002	9.48e-05	0.0003	0	0.0005	0	0.0007	0.0002	0	7.466e-05	0.0009	0	0.033	0.44358	D	0.002	0.79402	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.22	0.37052	T	-1.81	0.42575	N	0.404	0.44474	-0.6010	0.64776	T	0.206	0.56485	T	8	0.24742359	0.42022	T	0.022518	0.45416	T	0.147	0.38986	.	.	0.152612264143	0.14878	0.39111607982275465	0.39026	.	.	0.523282647133	0.42088	T	.	.	.	-0.124778	0.32344	T	-0.417012	0.31417	T	0.544527530670166	0.34273	D	0.880912	0.59977	D	.	.	.	.	.	.	.	.	-7.332	0.56422	T	.	.	0.329	0.55117	B	.	.	1.296456	0.16976	12.88	0.99442054032056237	0.64820	0.46543	0.27783	N	AEFDBI	0.122787	0.23810	N	-0.257393938749385	0.30808	1.721402	-0.491271942611007	0.22393	1.216053	6.92005012073932E-5	0.04366	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	0.756	0.17569	2.264000	0.42959	.	.	-0.761000	0.03509	0.990000	0.36992	0.209000	0.23629	0.000000	0.00833	0.0:0.0:0.6164:0.3836	8.036	0.29653	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	5532.55	398	chr19	8888763	.	G	A	5532.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-8.400e-01;DP=10822;ExcessHet=2.5830;FS=10.808;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=55.93;MQRankSum=-8.753e+00;QD=1.32;ReadPosRankSum=-9.860e-01;SOR=1.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:470,59:529:99:0|1:8888763_G_A:1063,0,19528:8888763	14	0	7	0
chr19	8888772	8888772	T	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.A40727G:p.H13576R,	.	.	387	1130	4	1	0	6	0.00264784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.918	P	0.884	P	.	.	.	.	2.455	M	1.54	T	-0.672	T	0.209	T	0.143	0.603	7.250	1.93	0.542	-0.004	4.795	0.027	0.01970920909	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796597641	6.847e-07	0.0003	1.363e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	0.0002	0.0067	7.429e-05	0.0002	0.0006	9.463e-05	7.746e-05	0.0001	8.311e-05	9.954e-05	0.0016	0.0004	0	0.0006	0.0001	0	8.473e-05	0.0007	0	0.399	0.10517	T	0.016	0.60972	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.54	0.30133	T	-1.07	0.27876	N	0.198	0.21839	-0.6717	0.61752	T	0.209	0.56826	T	8	0.08854148	0.15256	T	0.019709	0.42141	T	0.070	0.20419	.	.	0.0846915920261	0.08053	0.10730361134637394	0.10659	.	.	0.301812142134	0.10671	T	.	.	.	-0.298934	0.08761	T	-0.667174	0.07791	T	0.0429873021479382	0.04234	T	0.289971	0.05268	T	.	.	.	.	.	.	.	.	-7.328	0.56394	T	.	.	0.079	0.07365	B	.	.	0.305711	0.06811	3.335	0.90875541208019783	0.20124	0.01928	0.05881	N	AEFDBI	0.046718	0.07789	N	-0.451024332831344	0.23705	1.274877	-0.644784429574841	0.18348	0.9797751	1.15187711553299E-4	0.05269	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.95	1.93	0.24985	-1.911000	0.01675	.	.	0.639000	0.52094	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.149:0.0:0.851	4.795	0.12637	952	0.10565	SEA domain|SEA domain|SEA 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	0.125	5178.17	410	chr19	8888772	.	T	C	5178.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-7.350e-01;DP=11084;ExcessHet=1.1607;FS=20.381;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=55.59;MQRankSum=-8.634e+00;QD=1.74;ReadPosRankSum=0.031;SOR=2.460	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:482,66:548:99:0|1:8888763_G_A:1320,0,20040:8888763	15	0	5	1
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	0/1:257,86,42,0:407:99:.:.:3616,0,10719,1796,9214,12638,4410,11085,12881,15496	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	0/1:277,81,42:400:99:.:.:2567,0,11387,1638,9868,13142	1	0	19	0
chr19	8888876	8888876	A	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon56:c.T40623G:p.D13541E,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.974	D	0.981	D	.	.	.	.	1.87	L	0.93	T	-0.870	T	0.138	T	0.106	1.808	12.01	1.34	0.110	-2.020	5.128	0.020	0.0184576829843	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	.	5.187e-06	0.0002	1.454e-06	9.063e-06	7.562e-05	2.16e-06	1.39e-06	2.908e-05	1.903e-05	0	0	0	0	0	0	1.894e-06	0	7.562e-05	6.798e-06	0.0010	1.324e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.106	0.37872	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.93	0.44065	T	-0.43	0.14390	N	0.28	0.31702	-0.8696	0.50559	T	0.138	0.45451	T	8	0.102479935	0.18784	T	0.018458	0.40531	T	0.039	0.10176	.	.	0.258283824007	0.25425	0.03204328302232783	0.03152	.	.	0.32660266757	0.14420	T	.	.	.	-0.294743	0.09164	T	-0.661154	0.08189	T	0.18441400232506	0.19509	T	0.513049	0.16451	T	.	.	.	.	.	.	.	.	-7.397	0.56883	T	.	.	0.179	0.38959	B	.	.	0.370493	0.07427	4.059	0.97250488420208558	0.33038	0.04086	0.09547	N	AEFDBI	0.058217	0.10907	N	-0.810373198274173	0.13044	0.6399203	-0.987335908183308	0.10069	0.5048391	7.79589708737315E-5	0.04552	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.48	1.34	0.21018	-1.962000	0.01605	.	.	0.710000	0.85309	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.7372:0.0:0.2628:0.0	5.128	0.14225	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1429	1768.1	212	chr19	8888876	.	AT	A,CT	1768.1	.	AC=3,3;AF=0.071,0.071;AN=42;BaseQRankSum=4.52;DP=5111;ExcessHet=1.7912;FS=20.289;InbreedingCoeff=-0.1690;MLEAC=3,3;MLEAF=0.071,0.071;MQ=57.83;MQRankSum=-6.910e-01;QD=1.13;ReadPosRankSum=0.837;SOR=3.215	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:236,22,7:265:99:.:.:206,0,9854,641,9599,10484	15	0	3	0
chr19	9126332	9126332	C	G	exonic	OR7G3	.	nonsynonymous SNV	OR7G3:NM_001001958:exon1:c.G619C:p.G207R,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.601	P	0.412	B	0.035	U	1.000	N	3.425	M	1.2	T	-0.784	T	0.175	T	0.496	2.474	14.23	3.96	2.251	0.103	9.171	0.148	0.0129601194072	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	.	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.005	0.72224	D	0.601	0.39346	P	0.412	0.44859	B	0.035298	0.24662	U	0.188054	1	0.08975	N	3.39	0.91563	M	1.2	0.37405	T	-6.84	0.93060	D	0.22	0.24634	-0.7843	0.56059	T	0.175	0.51927	T	10	0.72469664	0.73894	D	0.01296	0.31981	T	0.148	0.39182	0.848	0.95084	0.533518908381	0.53001	0.4318021742425304	0.43097	0.490571140272	0.47772	0.220593869686	0.01345	T	0.012303	0.10839	T	-0.0717031	0.41053	T	-0.340773	0.40257	T	0.877425372600555	0.52733	D	0.793221	0.43505	T	0.7804935	0.82684	0.71314687	0.83074	0.7804935	0.82686	0.71314687	0.83074	-9.14	0.68594	D	.	.	0.345	0.56271	A	.	.	2.460439	0.31693	18.82	0.99639340200657067	0.76571	0.14712	0.18546	N	AEFDBI	0.067503	0.13272	N	-0.137074263458421	0.35786	2.060001	-0.328174848127897	0.27193	1.507195	1.0231940158204E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.96	3.96	0.45097	0.147000	0.16021	.	.	0.502000	0.22824	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.8969:0.0:0.1031	9.171	0.36240	976	0.04745	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	0.02381	2224.98	111	chr19	9126332	.	C	G	2224.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.181e+00;DP=1520;ExcessHet=0.0000;FS=2.628;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.099;SOR=0.520	GT:AD:DP:GQ:PL	0/1:83,91:174:99:2239,0,2163	20	0	1	0
chr19	10871725	10871725	T	-	exonic	CARM1	.	frameshift deletion	CARM1:NM_001370088:exon1:c.23delT:p.V8Gfs*117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	30.94	9	chr19	10871724	.	GT	G	30.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.060e-01;DP=390;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0247;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.06;ReadPosRankSum=1.92;SOR=0.223	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:13,2:15:45:0|1:10871724_GT_G:45,0,540:10871724	20	0	1	0
chr19	10986422	10986422	C	T	exonic	SMARCA4	.	nonsynonymous SNV	SMARCA4:NM_001128845:exon3:c.C589T:p.P197S	Coffin-Siris syndrome 4, Autosomal dominant	.	0	1497	24	1	0	26	0.00860927	.	.	138990	not_specified|Intellectual_disability,_autosomal_dominant_16|Hereditary_cancer-predisposing_syndrome|Rhabdoid_tumor_predisposition_syndrome_2|not_provided|Coffin-Siris_syndrome	MedGen:CN169374|MONDO:MONDO:0013821,MedGen:C3553249,OMIM:614609,Orphanet:1465|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0013224,MedGen:C2750074,OMIM:613325,Orphanet:231108,Orphanet:69077|MedGen:C3661900|MONDO:MONDO:0015452,MedGen:C0265338,OMIM:PS135900,Orphanet:1465	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.36	T	0.997	D	0.992	D	0.000	D	1.000	D	1.18	L	-2.35	D	0.313	D	0.708	D	0.568	4.095	21.1	4.32	2.244	7.510	15.759	0.653	.	0.0009	0.00139776	0.0057	0.0003	0.0014	0	0.0231	0.0049	0.0081	0.0096	0.0021733	336	154602	rs200664441	0.0019	0.0020	0.0018	0.0021	0.0072	0.0019	0.0019	0.0067	0.0065	3.049e-05	0.0002	0.0007	0	0.0101	0.0047	0.0014	0.0017	0.0072	0.0019	0.0019	0.0014	0.0025	0.0054	0.0017	0.0017	0.0038	0.0032	0.0002	0	0.0003	0.0003	0.0002	0.0113	0	0.0019	0.0009	0.0054	0.178	0.22138	T	0.357	0.19845	T	0.997	0.70673	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	1.01	0.25309	L	-2.37	0.88220	D	-2.54	0.55025	D	0.776	0.77413	0.313	0.87761	D	0.708	0.89947	D	10	0.008630902	0.00196	T	.	.	.	0.653	0.86936	.	.	0.657837784098	0.65497	0.6235723534144302	0.62290	0.913241329037	0.71139	0.714207053185	0.69203	T	0.675847	0.90428	D	-0.201606	0.20572	T	-0.0585044	0.66437	T	0.0357437925679412	0.02936	T	0.970203	0.89274	D	0.13477674	0.31302	0.16040199	0.37361	0.15440038	0.34949	0.16865475	0.38840	-10.812	0.78616	D	0.23241403128316984	0.31457	0.496	0.71937	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	4.208073	0.63548	24.6	0.9989858992289542	0.97124	0.98040	0.79094	D	AEFDBHCI	0.912643	0.87356	D	0.50929276600967	0.67637	5.108343	0.495885789513639	0.67717	5.121527	0.999999999802393	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	4.32	4.32	0.50899	7.830000	0.84907	7.600000	0.61533	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.697000	0.34049	0.0:1.0:0.0:0.0	15.759	0.77828	508	0.75398	Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;.;.;.;.;.;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ;Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ|Glutamine-Leucine-Glutamine, QLQ	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.04762	2774.11	39	chr19	10986422	.	C	T	2774.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=2.09;DP=958;ExcessHet=0.1072;FS=0.963;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=10.55;ReadPosRankSum=0.138;SOR=0.767	GT:AD:DP:GQ:PL	0/1:72,70:142:99:1691,0,1745	19	0	2	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	0/2:63,0,61:124:99:2256,2445,4990,0,2545,2360	2	0	2	0
chr19	11508012	11508012	G	A	exonic	ECSIT	.	nonsynonymous SNV	ECSIT:NM_001142465:exon3:c.C133T:p.P45S	.	.	420	1100	2	0	0	2	0.000908265	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.77	T	0.999	D	0.964	D	0.180	N	1.000	N	2.14	M	1.53	T	-0.418	T	0.499	T	0.206	2.691	14.96	0.079	0.001	0.523	11.745	0.219	0.0449618111893	.	.	3.296e-05	0	0	0.0001	0	1.499e-05	0.0011	6.056e-05	2.59e-05	4	154602	rs139421495	3.831e-05	3.831e-05	3.539e-05	4.125e-05	0.0003	3.025e-05	2.719e-05	9.791e-05	7.838e-05	0	0	0	2.519e-05	0	0.0003	2.968e-05	9.934e-05	0.0002	7.222e-05	7.218e-05	8.993e-05	5.372e-05	0.0001	3.968e-05	3.125e-05	7.908e-05	5.994e-05	2.406e-05	0	0	0	0	0	0	0.0001	0	0	0.111	0.35537	T	0.834	0.92824	T	0.203	0.40458	B	0.085	0.40037	B	0.179596	0.17140	N	0.608840	1	0.08975	N	2.83	0.82355	M	-1.06	0.76819	T	-1.42	0.37375	N	0.174	0.32591	-0.4177	0.71466	T	0.499	0.81077	T	10	0.121964484	0.23130	T	0.044962	0.61750	D	0.219	0.51417	0.547	0.66156	0.578975642517	0.57568	0.43119860357303813	0.43036	0.422747882419	0.42762	0.328441977501	0.14698	T	0.087085	0.37864	T	-0.269597	0.11803	T	-0.328842	0.41597	T	0.165174812078476	0.18245	T	0.827017	0.49388	T	0.064168386	0.13588	0.071718484	0.15391	0.064168386	0.13587	0.071718484	0.15391	-3.958	0.23173	T	.	.	0.073	0.18787	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.943857	0.13196	9.697	0.99530131090620755	0.69839	0.12216	0.17132	N	AEFBI	0.056915	0.10561	N	-0.599633327750964	0.18956	0.9883448	-0.75427182022691	0.15617	0.8222667	0.889302139539994	0.25809	0.706298	0.61202	0	0.702456	0.74545	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	3.81	0.079	0.13727	0.474000	0.21858	.	.	0.676000	0.76740	0.363000	0.25867	0.999000	0.35428	0.550000	0.30174	0.0:0.5298:0.4702:0.0	11.745	0.51080	759	0.50631	.;.;.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1019.98	39	chr19	11508012	.	G	A	1019.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.65;DP=866;ExcessHet=0.0000;FS=2.583;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.53;ReadPosRankSum=-8.330e-01;SOR=0.978	GT:AD:DP:GQ:PL	0/1:65,42:107:99:1034,0,1732	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	1/3:0,16,0,12,0,0,0:28:99:.:.:1167,495,447,1176,504,1235,672,0,739,762,1176,504,1235,739,1235,1176,504,1235,739,1235,1235,1176,504,1235,739,1235,1235,1235	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	1/3:0,16,0,12,0,0,0:28:99:.:.:1167,495,447,1176,504,1235,672,0,739,762,1176,504,1235,739,1235,1176,504,1235,739,1235,1235,1176,504,1235,739,1235,1235,1235	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	1/3:0,16,0,12,0,0,0:28:99:.:.:1167,495,447,1176,504,1235,672,0,739,762,1176,504,1235,739,1235,1176,504,1235,739,1235,1235,1176,504,1235,739,1235,1235,1235	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	1/3:0,16,0,12,0,0,0:28:99:.:.:1167,495,447,1176,504,1235,672,0,739,762,1176,504,1235,739,1235,1176,504,1235,739,1235,1235,1176,504,1235,739,1235,1235,1235	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	1/3:0,16,0,12,0,0,0:28:99:.:.:1167,495,447,1176,504,1235,672,0,739,762,1176,504,1235,739,1235,1176,504,1235,739,1235,1235,1176,504,1235,739,1235,1235,1235	2	3	6	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	0/1:54,15,0:69:99:459,0,2201,630,2247,2876	9	4	7	0
chr19	14053906	14053906	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1568C:p.G523A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.035	B	0.031	B	.	.	1.000	N	1.04	L	0.93	T	-0.996	T	0.055	T	0.086	1.558	11.16	-2.21	-0.247	-0.540	4.001	0.010	0.00482107082708	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.15e-07	8.62e-05	1.411e-06	0	9.272e-07	0	0	.	.	0	0	0	0	0	0	9.272e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	0.31987	T	0.582	0.08448	T	0.035	0.20614	B	0.031	0.21939	B	.	.	.	.	1	0.08975	N	1.32	0.33002	L	0.93	0.44065	T	-0.73	0.20576	N	0.05	0.02179	-0.9959	0.31055	T	0.055	0.23375	T	9	0.047597438	0.04099	T	0.004821	0.12066	T	0.010	0.01040	0.204	0.11936	0.0297737177859	0.01360	0.043480154686174236	0.04293	.	.	0.316369116306	0.12871	T	0.003635	0.03040	T	-0.314852	0.07328	T	-0.69004	0.06386	T	0.0587676949799061	0.06973	T	0.392661	0.09777	T	0.053652357	0.10184	0.042563137	0.05096	0.053652357	0.10184	0.042563137	0.05096	-3.165	0.12058	T	.	.	0.091	0.13080	B	.	.	-0.004163	0.04254	1.054	0.87933678530610904	0.17591	0.08655	0.14553	N	AEFDBCI	0.172582	0.29962	N	-1.18619449748543	0.05208	0.2368802	-1.24326432024207	0.05231	0.2487758	0.00121004456635823	0.08334	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	3.68	-2.21	0.06581	-0.553000	0.06104	-1.137000	0.06220	-0.234000	0.07639	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.0:0.4002:0.1834:0.4164	4.001	0.09070	824	0.40336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	156.11	95	chr19	14053906	.	C	G	156.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.766e+00;DP=1112;ExcessHet=0.1072;FS=103.146;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=0.58;ReadPosRankSum=0.968;SOR=7.341	GT:AD:DP:GQ:PL	0/1:104,18:122:71:71,0,3839	19	0	2	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.56	T	0.008	B	0.01	B	.	.	1.000	N	0.345	N	0.95	T	-1.008	T	0.053	T	0.128	1.029	9.204	2.05	0.372	0.192	6.843	0.013	0.0052078798388	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.306	0.14207	T	0.557	0.09205	T	0.008	0.14655	B	0.01	0.14941	B	.	.	.	.	1	0.08975	N	0.77	0.19370	N	0.95	0.43279	T	-0.69	0.19720	N	0.059	0.03069	-1.0081	0.27510	T	0.053	0.22423	T	9	0.04972422	0.04603	T	0.005208	0.13279	T	0.013	0.01715	0.196	0.10839	0.139678290688	0.13603	0.027866872545468033	0.02736	.	.	0.337800443172	0.16108	T	0.001275	0.00758	T	-0.277433	0.10942	T	-0.63629	0.09943	T	0.0434918548633612	0.04328	T	0.461754	0.13398	T	0.07602174	0.17165	0.06639426	0.13595	0.07602174	0.17164	0.06639426	0.13595	-5.02	0.37056	T	.	.	0.138	0.30184	B	.	.	1.347247	0.17547	13.23	0.77371077808316469	0.11848	0.24576	0.22436	N	AEFDBCI	0.212789	0.33844	N	-1.05278905982485	0.07533	0.3502519	-1.02789764357686	0.09174	0.4549612	0.00144854144453499	0.08543	0.695654	0.57023	0	0.514364	0.08380	0	0.723109	0.80598	0	0.530356	0.10902	0	.	.	4.2	2.05	0.25860	0.412000	0.20852	0.452000	0.18532	0.549000	0.26987	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.0:0.779:0.0:0.221	6.843	0.23157	824	0.40336	.	.	.	.	.	.	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	0.1538	406.69	113	chr19	14053907	.	C	G	406.69	.	AC=4;AF=0.154;AN=26;BaseQRankSum=-3.914e+00;DP=2349;ExcessHet=0.6776;FS=123.470;InbreedingCoeff=-0.2360;MLEAC=6;MLEAF=0.231;MQ=60.00;MQRankSum=0.00;QD=0.77;ReadPosRankSum=1.35;SOR=10.386	GT:AD:DP:GQ:PL	0/1:96,18:119:86:86,0,3787	9	0	4	8
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	0/1:24,25,0:50:99:.:.:662,0,561,811,709,1846	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	0/3:21,1,7,13:42:99:.:.:328,444,2049,125,1012,880,0,928,464,1311	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	1|2:1,8,32,0:41:99:0|1:17286688_GTGTT_*:1929,958,1054,234,0,140,1622,1082,295,1653:17286688	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|1:1,32,0:41:94:1|1:17286688_GTGTT_*:1789,94,0,1482,155,1513:17286688	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|1:1,52,0:53:99:1|1:17286688_GTGTT_*:2330,142,0,2292,201,2519:17286688	0	10	3	0
chr19	18432186	18432186	G	A	exonic	SSBP4	.	nonsynonymous SNV	SSBP4:NM_001009998:exon9:c.G610A:p.A204T	.	.	418	1078	25	1	0	27	0.0123683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.61	T	0.004	B	0.008	B	0.002	N	1.000	N	1.5	L	.	.	-1.017	T	0.062	T	0.061	0.174	4.937	0.211	-0.189	1.449	8.284	0.079	0.0011665959832	0.0019	0.00239617	0.0034	0.0004	0.0073	0	0.0002	0.0040	0.0069	0.0031	0.0032018	495	154602	rs147838337	0.0027	0.0027	0.0026	0.0029	0.0160	0.0027	0.0026	0.0133	0.0123	0.0006	0.0078	0.0264	2.519e-05	0.0002	0.0160	0.0021	0.0043	0.0032	0.0027	0.0027	0.0027	0.0027	0.0064	0.0025	0.0024	0.0054	0.0050	0.0004	0	0.0064	0.0268	0	9.414e-05	0.0204	0.0024	0.0080	0.0031	0.296	0.14743	T	0.088	0.40586	T	0.004	0.12183	B	0.008	0.13708	B	0.002032	0.37411	N	0.165270	1	0.08975	N	1.845	0.48678	L	.	.	.	-0.68	0.19509	N	0.174	0.18649	-1.0171	0.24657	T	0.062	0.25815	T	9	0.0037202537	0.00069	T	0.001167	0.01484	T	0.079	0.23065	.	.	0.0675242888579	0.06100	0.3259170069879462	0.32504	0.225567006478	0.25097	0.411224544048	0.26626	T	0.011158	0.13838	T	-0.591434	0.00164	T	-0.615082	0.11577	T	0.00363490260473922	0.00038	T	0.80202	0.45897	T	0.020744454	0.00644	0.037983518	0.03569	0.020744454	0.00644	0.037983518	0.03568	-4.831	0.39104	T	.	.	0.073	0.04847	B	.;.;.;.	.;.;.;.	1.137339	0.15243	11.70	0.88144089352050137	0.17749	0.34207	0.25012	N	AEFDBCI	0.167927	0.29464	N	-1.42948923902382	0.02383	0.1051683	-1.47284942250691	0.02569	0.1183982	0.999668353720477	0.41534	0.706548	0.73137	0	0.71359	0.82159	0	0.459711	0.06710	0	0.714379	0.83352	0	.	.	3.67	0.211	0.14512	1.541000	0.35732	1.577000	0.27452	-0.195000	0.09104	0.022000	0.19841	0.022000	0.20871	0.230000	0.22734	0.3137:0.0:0.6863:0.0	8.284	0.31077	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	635.98	36	chr19	18432186	.	G	A	635.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.183;DP=926;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.16;ReadPosRankSum=-1.183e+00;SOR=0.680	GT:AD:DP:GQ:PL	0/1:32,25:57:99:650,0,832	20	0	1	0
chr19	19516254	19516254	G	A	exonic	NDUFA13	.	nonsynonymous SNV	NDUFA13:NM_015965:exon1:c.G16A:p.V6M,	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	1.0	D	0.995	D	0.000	D	1.000	N	2.195	M	-1.16	T	0.406	D	0.610	D	0.704	5.145	32	5.3	2.504	7.712	16.515	0.577	0.256935483004	.	.	8.302e-06	0	0	0	0	1.515e-05	0	0	6.5e-06	1	154602	rs750632502	5.473e-06	6.156e-06	2.723e-06	8.251e-06	0.0009	2.35e-06	1.7e-06	0.0003	0.0002	0	0	0	0	0	0.0009	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.91255	D	0.077	0.42436	T	0.997	0.70673	D	0.914	0.64984	D	0.000001	0.84330	D	0.000000	0.99998	0.58761	D	2.715	0.79425	M	-1.16	0.78082	T	-1.23	0.31170	N	0.645	0.68342	0.406	0.89187	D	0.610	0.86178	D	10	0.82060623	0.81268	D	0.256935	0.89349	D	0.577	0.82912	0.62	0.75461	0.953623680065	0.95313	0.8708372400610519	0.87049	0.443850555789	0.44308	.	.	.	0.199688	0.55704	T	0.233404	0.77040	D	0.0974921	0.76742	D	0.84814727306366	0.50006	D	0.914409	0.71628	D	0.4556108	0.64396	0.5297922	0.72832	0.4556108	0.64396	0.5297922	0.72832	-5.973	0.46053	T	0.3490484158178386	0.44638	0.693	0.72655	P	.;.;.;.	.;.;.;.	5.138609	0.86020	28.8	0.99857077039356856	0.93548	0.69454	0.34194	D	ALL	0.971818	0.99379	D	0.793838215447229	0.85717	8.660729	0.773564284432701	0.87903	9.385482	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	5.3	5.3	0.74745	7.930000	0.87066	.	.	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.865000	0.41091	0.0:0.0:1.0:0.0	16.515	0.84146	432	0.80690	.;.;.;.	.	.	.	.	.	Uncertain significance	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	0	0	0	0.02381	1414.98	34	chr19	19516254	.	G	A	1414.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.850e-01;DP=837;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.64;ReadPosRankSum=0.529;SOR=0.666	GT:AD:DP:GQ:PL	0/1:68,65:133:99:1429,0,1548	20	0	1	0
chr19	19794852	19794852	T	A	exonic	ZNF506	.	nonsynonymous SNV	ZNF506:NM_001145404:exon3:c.A939T:p.E313D	.	.	428	1071	21	2	0	25	0.0115367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.895	P	0.888	P	.	.	1.000	N	0.6	N	3.19	T	-1.010	T	0.013	T	0.021	2.446	14.14	-0.169	0.363	-0.995	3.973	0.054	.	0.0071	0.00519169	0.0027	0.0186	0.0007	0	0.0002	0.0008	0.0033	0.0048	0.0024967	386	154602	rs146885601	0.0011	0.0011	0.0010	0.0012	0.0210	0.0011	0.0010	0.0197	0.0192	0.0210	0.0015	0.0018	0	3.747e-05	0.0101	0.0002	0.0024	0.0047	0.0053	0.0053	0.0053	0.0052	0.0173	0.0050	0.0048	0.0163	0.0158	0.0173	0	0.0017	0.0014	0.0002	9.42e-05	0.0170	0.0003	0.0043	0.0031	0.008	0.59928	D	0.046	0.50226	D	0.895	0.49247	P	0.888	0.63021	P	.	.	.	.	0.999999	0.58761	D	0.78	0.19475	N	3.19	0.07353	T	-2.78	0.58896	D	0.055	0.09914	-1.0095	0.27074	T	0.013	0.05273	T	9	0.006626934	0.00150	T	.	.	.	0.054	0.15330	0.445	0.50302	0.480497669815	0.47680	0.02134446995054243	0.02087	0.132410911417	0.14924	0.271884411573	0.06388	T	0.016132	0.13395	T	-0.731187	0.00023	T	-0.80814	0.01707	T	0.0547203949769761	0.06311	T	0.777822	0.41150	T	0.18308175	0.39558	0.15170377	0.35725	0.18308175	0.39558	0.15170377	0.35724	-6.299	0.49610	T	.	.	0.188	0.41648	B	.;.;.	.;.;.	1.594877	0.20394	14.73	0.99559090003100037	0.71645	0.02908	0.07708	N	AEFBI	0.033522	0.03996	N	-0.804653038722503	0.13191	0.6481181	-0.997437866733296	0.09843	0.4920625	0.00175268107386836	0.08850	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.491896	0.07777	0	.	.	1.01	-0.169	0.12685	-4.315000	0.00290	.	.	0.476000	0.22017	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.0:0.2814:0.0:0.7186	3.973	0.08954	721	0.55360	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.02381	1508.98	34	chr19	19794852	.	T	A	1508.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.627e+00;DP=804;ExcessHet=0.0000;FS=1.514;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.35;ReadPosRankSum=-1.930e-01;SOR=0.520	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1523,0,1486	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	1|1:0,79,0:79:99:1|1:20624371_G_GA:3480,238,0,3480,238,3480:20624371	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	1|1:0,80,0:80:99:1|1:20624371_G_GA:3359,232,0,3359,232,3359:20624371	0	4	3	7
chr19	20807170	20807170	C	G	exonic	ZNF66	.	nonsynonymous SNV	ZNF66:NM_001355197:exon4:c.C1570G:p.L524V,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00231894324086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.64	0.52867	T	.	.	.	0.231	0.25989	.	.	.	.	.	.	.	0.24506891	0.41748	T	0.002319	0.04479	T	.	.	.	.	0.693223118719	0.69058	0.0021901453210445396	0.00203	.	.	.	.	.	0.093551	0.39234	T	-0.210353	0.19329	T	-0.539934	0.18304	T	.	.	.	0.580242	0.20999	T	0.021028632	0.00686	0.05955618	0.11196	0.021028632	0.00685	0.05955618	0.11195	-7.484	0.57498	T	.	.	0.188	0.40506	B	.	.	1.261587	0.16596	12.64	0.99443778198886845	0.64921	0.12573	0.17351	N	AEFBHCI	0.034603	0.04314	N	.	.	.	.	.	.	2.26947898014672E-5	0.03498	0.660377	0.49826	0	0.588066	0.40923	0	0.696353	0.63694	0	0.564101	0.26826	0	.	.	1.44	1.44	0.21647	0.587000	0.23611	.	.	-0.744000	0.03643	0.104000	0.22875	0.000000	0.08366	0.001000	0.02609	0.0:1.0:0.0:0.0	8.358	0.31504	982	0.03397	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	796.98	80	chr19	20807170	.	C	G	796.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.229e+00;DP=1359;ExcessHet=0.0000;FS=1.932;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.07;ReadPosRankSum=-2.687e+00;SOR=0.957	GT:AD:DP:GQ:PL	0/1:40,32:72:99:811,0,1359	20	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I,	.	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1507.17	46	chr19	21383191	.	G	A	1507.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=-1.034e+00;DP=1693;ExcessHet=1.1607;FS=5.964;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.03;MQRankSum=-1.079e+01;QD=1.91;ReadPosRankSum=-1.253e+00;SOR=1.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,16:148:99:0|1:21383168_A_G:274,0,5494:21383168	15	0	5	1
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S,	.	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	1201.17	46	chr19	21383196	.	T	C	1201.17	.	AC=5;AF=0.125;AN=40;BaseQRankSum=1.03;DP=1683;ExcessHet=1.1607;FS=6.327;InbreedingCoeff=-0.1507;MLEAC=5;MLEAF=0.125;MQ=59.06;MQRankSum=-1.086e+01;QD=1.53;ReadPosRankSum=-1.685e+00;SOR=1.443	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:134,16:150:99:0|1:21383168_A_G:268,0,5578:21383168	15	0	5	1
chr19	21383203	21383203	-	ACTC	exonic	ZNF738	.	frameshift insertion	ZNF738:NM_001355237:exon5:c.657_658insACTC:p.G220Tfs*5,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1434000702	0	5.341e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.578e-06	0.0004	1.286e-05	0	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	651.89	46	chr19	21383203	.	A	AACTC	651.89	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.261;DP=1551;ExcessHet=0.6776;FS=5.243;InbreedingCoeff=-0.1054;MLEAC=4;MLEAF=0.095;MQ=59.17;MQRankSum=-1.177e+01;QD=1.02;ReadPosRankSum=-1.741e+00;SOR=1.440	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:129,11:140:74:0|1:21383168_A_G:74,0,5384:21383168	17	0	4	0
chr19	21383206	21383209	TCAA	-	exonic	ZNF738	.	frameshift deletion	ZNF738:NM_001355237:exon5:c.660_663del:p.Q221Ifs*3,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1310884774	0	4.382e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.714e-06	0.0004	1.31e-05	0	1.494e-05	0	0	.	.	0	0	0	0	0	0	0	1.494e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	617.28	46	chr19	21383205	.	GTCAA	G	617.28	.	AC=4;AF=0.100;AN=40;BaseQRankSum=4.39;DP=1537;ExcessHet=0.6776;FS=5.203;InbreedingCoeff=-0.1204;MLEAC=4;MLEAF=0.100;MQ=59.20;MQRankSum=-1.168e+01;QD=0.97;ReadPosRankSum=-1.938e+00;SOR=1.383	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,11:138:80:0|1:21383168_A_G:80,0,5300:21383168	16	0	4	1
chr19	32383039	32383039	A	G	exonic	ZNF507	.	nonsynonymous SNV	ZNF507:NM_014910:exon6:c.A2818G:p.I940V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.994	D	0.987	D	0.000	D	1.000	D	1.79	L	3.0	T	-1.143	T	0.088	T	0.444	3.686	18.73	5.92	2.266	7.107	16.363	0.171	0.0103761624725	.	.	1.653e-05	0	0	0	0	3.007e-05	0	0	1.29e-05	2	154602	rs778475269	1.368e-06	1.368e-06	1.361e-06	1.375e-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	6.568e-06	6.566e-06	1.284e-05	0	1.469e-05	0	0	.	.	0	0	0	0	0	0	0	1.469e-05	0	0	0.003	0.72154	D	0.0	0.92824	D	0.994	0.66517	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	0.999385	0.46865	D	1.04	0.26193	L	3.0	0.12371	T	-0.13	0.10480	N	0.26	0.34874	-1.1425	0.01268	T	0.088	0.34105	T	10	0.2290636	0.39826	T	0.010376	0.26850	T	0.171	0.43483	0.273	0.22369	0.082315109003	0.07666	0.30412437249182983	0.30325	0.141012645954	0.15902	0.602843642235	0.53306	T	0.059219	0.31057	T	-0.108362	0.35039	T	-0.377945	0.35963	T	0.651877234925434	0.38542	D	0.910509	0.68253	D	0.1489895	0.33988	0.2049493	0.44642	0.1489895	0.33987	0.2049493	0.44641	-5.291	0.39854	T	.	.	0.133	0.56436	B	.;.;.	.;.;.	3.830803	0.55368	23.6	0.99827195181562811	0.90939	0.98692	0.85647	D	AEFGBI	0.770315	0.70530	D	0.707304765509048	0.80110	7.222554	0.719725778803481	0.83876	8.138371	0.999999999874064	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	7.129000	0.76835	9.372000	0.80454	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	1.0:0.0:0.0:0.0	16.363	0.83114	845	0.36510	.;.;.	.	.	.	.	.	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	655.98	35	chr19	32383039	.	A	G	655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.19;DP=822;ExcessHet=0.0000;FS=1.124;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.15;ReadPosRankSum=0.993;SOR=1.038	GT:AD:DP:GQ:PL	0/1:30,24:54:99:670,0,759	20	0	1	0
chr19	35511468	35511492	ACCACTGCTGCCGCCACTGCTGCCG	0	exonic	DMKN	.	.	.	.	.	2	141	1	0	82	83	0.00353357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	1248.58	34	chr19	35511468	.	ACCACTGCTGCCGCCACTGCTGCCG	A,*	1248.58	.	AC=1,7;AF=0.024,0.167;AN=42;BaseQRankSum=0.761;DP=1237;ExcessHet=3.5521;FS=1.779;InbreedingCoeff=-0.2353;MLEAC=1,7;MLEAF=0.024,0.167;MQ=60.00;MQRankSum=0.00;QD=2.07;ReadPosRankSum=0.054;SOR=0.854	GT:AD:DP:GQ:PGT:PID:PL:PS	0/2:44,0,34:78:99:.:.:1309,1441,3213,0,1771,1656	13	0	1	0
chr19	37127298	37127298	C	T	exonic	ZNF420	.	stopgain	ZNF420:NM_001329516:exon4:c.C307T:p.Q103X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	.	.	.	.	.	.	1.000	N	.	.	.	.	.	.	.	.	.	2.597	14.64	-0.174	0.314	0.214	2.113	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs933007155	4.107e-06	4.788e-06	2.724e-06	5.505e-06	0.0003	1.48e-06	9.7e-07	6.099e-05	2.524e-05	0	0	0	0	0	0.0003	2.699e-06	1.657e-05	0	6.575e-06	6.568e-06	0	1.346e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.055	0.02759	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123667	0.66737	D	-0.0601378	0.66322	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Recessive	.;.;.;High	6.244475	0.94867	34	0.99612563889211236	0.74932	0.00006	0.00120	N	AEFDBCI	0.038064	0.05330	N	0.123433850047959	0.47559	2.979801	-0.240211054022388	0.30109	1.692545	2.48561081451963E-4	0.06141	0.615465	0.37627	0	0.633656	0.55848	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	3.77	-0.174	0.12665	-0.242000	0.08945	.	.	0.511000	0.23309	0.000000	0.06391	0.000000	0.08366	0.965000	0.52897	0.1995:0.489:0.1947:0.1168	2.113	0.03483	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	0	0	0	0	0.02381	1290.98	34	chr19	37127298	.	C	T	1290.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-8.780e-01;DP=793;ExcessHet=0.0000;FS=1.574;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.18;ReadPosRankSum=-1.439e+00;SOR=0.509	GT:AD:DP:GQ:PL	0/1:55,51:106:99:1305,0,1502	20	0	1	0
chr19	37611846	37611846	G	A	exonic	ZNF540	.	nonsynonymous SNV	ZNF540:NM_001172226:exon4:c.G470A:p.C157Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	0.987	D	.	.	1.000	N	2.655	M	0.34	T	-0.527	T	0.330	T	0.377	1.627	11.40	2.17	1.193	2.334	9.968	0.308	0.0172981125605	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378256877	2.052e-06	2.052e-06	1.361e-06	2.751e-06	0.0003	5.5e-07	1.5e-07	6.121e-05	2.532e-05	0	0	0	0	0	0.0003	8.993e-07	0	0	6.57e-06	6.567e-06	1.284e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.015	0.52492	D	0.0	0.92824	D	1.0	0.90584	D	0.97	0.77487	D	.	.	.	.	1	0.81001	D	2.715	0.79425	M	0.34	0.58176	T	-8.38	0.97104	D	0.402	0.50958	-0.5272	0.67647	T	0.330	0.69783	T	9	0.9580461	0.95183	D	0.017298	0.38942	T	0.308	0.62947	0.802	0.92089	0.76900988633	0.76689	0.029234694314570583	0.02872	0.464410950869	0.45914	0.361406803131	0.19590	T	0.282651	0.65539	T	-0.0472801	0.44860	T	-0.305691	0.44120	T	0.777593021672362	0.44900	D	0.345165	0.12934	T	0.34690282	0.56825	0.3458708	0.60263	0.34690282	0.56825	0.3458708	0.60263	-7.887	0.60298	D	.	.	0.336	0.57591	B	.;.;.;.;.	.;.;.;.;.	1.709873	0.21777	15.34	0.56342352270712237	0.05532	0.49155	0.28369	N	AEFGBI	0.214750	0.34019	N	0.0255939910459795	0.43020	2.603319	-0.242480212625673	0.30032	1.687441	0.799200868544404	0.24156	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.17	2.17	0.26736	2.429000	0.44415	.	.	0.452000	0.21348	0.851000	0.30461	0.000000	0.08366	0.039000	0.14166	0.0:0.0:1.0:0.0	9.968	0.40907	658	0.62094	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.02381	1917.98	35	chr19	37611846	.	G	A	1917.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.570e-01;DP=845;ExcessHet=0.0000;FS=2.204;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.64;ReadPosRankSum=-1.489e+00;SOR=0.904	GT:AD:DP:GQ:PL	0/1:62,69:131:99:1932,0,1685	20	0	1	0
chr19	37698149	37698149	C	T	exonic	ZNF607	.	nonsynonymous SNV	ZNF607:NM_001172677:exon5:c.G1979A:p.S660N	.	.	0	225	1	0	0	1	0.00221729	.	.	2216691	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.32	T	0.141	B	0.028	B	.	.	1.000	N	0	N	2.22	T	-0.972	T	0.016	T	0.012	2.819	15.39	-1.17	0.118	-2.204	1.746	0.025	0.000935145265871	0.0008	.	0.0003	0.0004	0.0003	0	0	0.0005	0	0	0.0003234	50	154602	rs139379295	0.0005	0.0005	0.0006	0.0005	0.0006	0.0005	0.0005	0.0006	0.0006	0.0003	0.0005	0.0002	0	3.746e-05	0.0005	0.0006	0.0006	1.159e-05	0.0005	0.0005	0.0005	0.0005	0.0009	0.0004	0.0004	0.0006	0.0005	0.0003	0.0044	0.0009	0	0	9.429e-05	0	0.0007	0.0005	0	0.245	0.17410	T	0.083	0.41573	T	0.141	0.27581	B	0.028	0.21332	B	.	.	.	.	1	0.08975	N	0.585	0.15399	N	2.22	0.18248	T	-1.15	0.29525	N	0.026	0.00527	-0.9718	0.36819	T	0.016	0.06473	T	9	0.012997538	0.00277	T	9.35E-4	0.00911	T	0.025	0.05312	.	.	0.119812018005	0.11559	0.010580781535400386	0.01019	0.0480783259734	0.05242	0.250165164471	0.03785	T	0.008664	0.07944	T	-0.674773	0.00051	T	-0.840598	0.01089	T	0.0126990806324078	0.00214	T	0.505249	0.15946	T	0.05761018	0.11485	0.050995827	0.08118	0.05761018	0.11485	0.050995827	0.08117	-4.672	0.33428	T	.	.	0.135	0.29311	B	.;.	.;.	0.832890	0.12043	8.599	0.97799904414690175	0.36058	0.00437	0.02136	N	AEFDGBI	0.024300	0.01482	N	-1.08698552086349	0.06882	0.3180984	-1.10654455257675	0.07574	0.3689679	0.922543987093366	0.26712	0.651	0.46895	0	0.633656	0.55848	0	0.65145	0.50148	0	0.613276	0.41899	0	.	.	1.95	-1.17	0.09152	-5.935000	0.00109	.	.	0.580000	0.29708	0.000000	0.06391	0.000000	0.08366	0.100000	0.18284	0.1557:0.4294:0.2413:0.1736	1.746	0.02783	652	0.62785	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	1419.98	33	chr19	37698149	.	C	T	1419.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.541;DP=791;ExcessHet=0.0000;FS=1.564;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.52;ReadPosRankSum=-1.696e+00;SOR=0.527	GT:AD:DP:GQ:PL	0/1:53,52:105:99:1434,0,1418	20	0	1	0
chr19	38119673	38119673	G	A	exonic	SIPA1L3	.	nonsynonymous SNV	SIPA1L3:NM_015073:exon9:c.G2659A:p.D887N,	.	.	429	1080	12	1	0	14	0.00643974	.	.	741838	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.07	T	0.226	B	0.028	B	0.000	D	0.944	D	0.695	N	0.29	T	-0.913	T	0.122	T	0.067	2.938	15.79	4.72	1.448	3.587	13.931	0.084	.	0.0005	0.00219649	0.0019	9.817e-05	0.0003	0	0	0.0006	0.0011	0.0112	0.0016429	254	154602	rs151167786	0.0009	0.0009	0.0006	0.0012	0.0092	0.0008	0.0008	0.0087	0.0084	0.0002	0.0004	0.0008	0	1.872e-05	0.0031	0.0003	0.0010	0.0092	0.0007	0.0007	0.0005	0.0009	0.0116	0.0006	0.0005	0.0092	0.0083	0.0002	0	0.0001	0.0003	0	0	0	0.0005	0.0005	0.0116	0.087	0.32453	T	0.054	0.47097	T	0.226	0.30455	B	0.028	0.21332	B	0.000103	0.50451	D	0.182471	0.943905	0.37428	D	0.895	0.22405	L	0.29	0.58897	T	-2.42	0.53096	N	0.317	0.35727	-0.9134	0.46428	T	0.122	0.42441	T	10	0.016548306	0.00349	T	.	.	.	0.084	0.24469	.	.	0.265735104816	0.26182	0.302006772980338	0.30113	0.680600731235	0.60007	0.542522907257	0.44801	T	0.083869	0.37152	T	-0.530872	0.00379	T	-0.525942	0.19694	T	0.0598486848175526	0.07145	T	0.651635	0.26249	T	0.062326275	0.13004	0.068477765	0.14304	0.062326275	0.13004	0.068477765	0.14303	-8.534	0.64654	D	.	.	0.088	0.11797	B	.	.	2.894376	0.38345	20.7	0.997101397526441	0.81283	0.95292	0.64156	D	AEFDBI	0.349589	0.44333	N	-0.242136580307183	0.31419	1.761501	-0.0705748620055247	0.36614	2.132956	0.604217011110866	0.21751	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.711	0.71501	0	.	.	5.75	4.72	0.59248	3.678000	0.54361	8.709000	0.78130	-0.119000	0.14319	0.969000	0.34210	1.000000	0.68203	0.866000	0.41154	0.074:0.0:0.926:0.0	13.931	0.63501	633	0.64743	.	.	.	.	.	.	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	2495.98	36	chr19	38119673	.	G	A	2495.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.90;DP=868;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.70;ReadPosRankSum=0.064;SOR=0.608	GT:AD:DP:GQ:PL	0/1:74,85:159:99:2510,0,1886	20	0	1	0
chr19	39100628	39100628	G	A	exonic	ACP7	.	nonsynonymous SNV	ACP7:NM_001363687:exon5:c.G554A:p.R185K,	.	.	428	1085	9	0	0	9	0.00413034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00172027028043	0.0005	0.000599042	0.0006	0	0.0011	0	0	0.0006	0.0011	0.0010	0.0005886	91	154602	rs142633344	0.0005	0.0005	0.0004	0.0005	0.0019	0.0004	0.0004	0.0011	0.0009	5.974e-05	0.0012	0.0033	2.519e-05	5.616e-05	0.0019	0.0003	0.0009	0.0011	0.0003	0.0003	0.0003	0.0003	0.0006	0.0003	0.0002	0.0003	0.0002	0	0	0.0006	0.0043	0	0	0	0.0003	0.0009	0.0002	.	.	.	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.342	0.38335	.	.	.	.	.	.	.	0.011525065	0.00251	T	0.00172	0.02882	T	.	.	.	.	0.640992367474	0.63802	.	.	.	.	.	.	.	0.028029	0.20393	T	-0.481911	0.00721	T	-0.505542	0.21774	T	.	.	.	0.40416	0.10358	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.32178	B	.	.	0.443248	0.08133	4.865	0.41170424696469854	0.02953	0.49952	0.28551	N	AEFDBI	0.033847	0.04091	N	.	.	.	.	.	.	0.00664917768213927	0.11271	0.580535	0.33130	0	0.59043	0.45803	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	5.24	0.276	0.14916	1.797000	0.38438	.	.	-0.116000	0.14526	1.000000	0.71638	0.999000	0.35428	0.971000	0.54645	0.4128:0.0:0.5872:0.0	8.465	0.32111	528	0.73785	.	.	.	.	.	.	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	957.98	37	chr19	39100628	.	G	A	957.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.546e+00;DP=949;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.14;ReadPosRankSum=1.16;SOR=0.697	GT:AD:DP:GQ:PL	0/1:45,41:86:99:972,0,1242	20	0	1	0
chr19	39422762	39422762	G	A	exonic	PLEKHG2	.	nonsynonymous SNV	PLEKHG2:NM_001351693:exon18:c.G1531A:p.G511R	Leukodystrophy and acquired microcephaly with or without dystonia, Autosomal recessive	YES	421	1095	6	0	0	6	0.00273224	.	.	389177	not_provided|Abnormal_brain_morphology	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.71	T	0.119	B	0.017	B	0.070	N	0.703	D	0.625	N	-0.6	T	-0.902	T	0.162	T	0.226	-0.130	3.363	-2.66	-0.213	0.380	9.993	0.092	0.0323770695073	7.7e-05	.	9.952e-05	9.802e-05	0	0.0002	0	0.0001	0	0.0001	9.7e-05	15	154602	rs370673772	7.587e-05	7.73e-05	7.018e-05	8.177e-05	0.0002	6.377e-05	5.959e-05	0.0001	8.603e-05	0.0002	0.0001	0.0001	2.561e-05	0	0.0002	6.822e-05	0.0001	0.0002	9.867e-05	9.854e-05	0.0001	6.733e-05	0.0001	6.013e-05	4.885e-05	7.912e-05	5.996e-05	0.0001	0	0	0	0	0	0	0.0001	0	0	0.4	0.10482	T	0.226	0.27414	T	0.119	0.26641	B	0.012	0.16012	B	0.070237	0.21553	N	0.341096	0.702524	0.33436	D	0.485	0.13215	N	-0.8	0.73845	T	-0.75	0.21003	N	0.208	0.23125	-0.9021	0.47771	T	0.162	0.49781	T	10	0.039737165	0.02488	T	0.032377	0.54220	D	0.092	0.26621	0.123	0.02942	0.207176502487	0.20327	0.1247382091920939	0.12399	.	.	0.377633064985	0.21920	T	0.002026	0.01432	T	-0.324219	0.06558	T	-0.42406	0.30610	T	0.0086155843916963	0.00105	T	0.720328	0.33319	T	0.023363322	0.01070	0.03989689	0.04190	0.023363322	0.01070	0.03989689	0.04190	-4.932	0.36093	T	.	.	0.092	0.18539	B	.;.	.;.	1.186957	0.15778	12.10	0.66151428493401443	0.07976	0.10450	0.15953	N	AEFDGBI	0.053576	0.09666	N	-1.21084912628357	0.04840	0.219356	-1.21235822934504	0.05711	0.2728624	0.999991300549885	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	-2.66	0.05721	0.264000	0.18264	.	.	-0.823000	0.02940	0.172000	0.23960	0.523000	0.25320	0.030000	0.13115	0.5433:0.0:0.4567:0.0	9.993	0.41054	675	0.60470	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1144.98	36	chr19	39422762	.	G	A	1144.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.510e-01;DP=819;ExcessHet=0.0000;FS=0.860;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.79;ReadPosRankSum=1.39;SOR=0.561	GT:AD:DP:GQ:PL	0/1:38,45:83:99:1159,0,964	20	0	1	0
chr19	40396784	40396784	A	G	exonic	PRX	.	nonsynonymous SNV	PRX:NM_181882:exon7:c.T1568C:p.L523P,	Charcot-Marie-Tooth disease, type 4F, Autosomal recessive;Dejerine-Sottas disease, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	349863	Inborn_genetic_diseases|Charcot-Marie-Tooth_disease_type_4F|Charcot-Marie-Tooth_disease_type_4	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013959,MedGen:C3540453,OMIM:614895,Orphanet:99952|MONDO:MONDO:0018995,MedGen:C4082197,Orphanet:64749	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.006	N	1.000	N	-2.215	N	4.44	T	-0.915	T	0.002	T	0.101	-1.029	0.220	1.9	0.370	0.748	7.784	0.025	0.00187235728064	.	0.000399361	4.188e-05	0.0001	0	0	0	0	0	0.0002	7.68e-05	2	26028	rs550446238	1.872e-05	3.42e-05	1.518e-05	2.229e-05	0.0002	1.282e-05	1.099e-05	9.981e-05	7.987e-05	3.047e-05	4.752e-05	0	2.588e-05	1.886e-05	0	5.449e-06	3.384e-05	0.0002	0.0003	0.0006	0.0002	0.0004	0.0007	0.0002	0.0002	0.0003	0.0002	0.0005	0.0023	0	0	0.0007	0.0008	0	0.0001	0	0.0007	0.213	0.19430	T	0.414	0.14369	T	0.0	0.02946	B	0.0	0.01387	B	0.006204	0.32193	N	0.144240	0.999999	0.08975	N	-2.515	0.00055	N	4.44	0.02139	T	3.36	0.00099	N	0.082	0.05799	-0.9147	0.46259	T	0.002	0.00526	T	10	0.013767213	0.00291	T	0.001872	0.03272	T	0.025	0.05312	.	.	0.141422826196	0.13715	0.0888080930056007	0.08813	0.358169936136	0.37530	0.334310591221	0.15584	T	0.054246	0.29669	T	-0.458171	0.01009	T	-0.711892	0.05199	T	0.0281035651205104	0.01703	T	0.294071	0.05417	T	0.05819368	0.11677	0.08367596	0.19194	0.05819368	0.11677	0.08367596	0.19194	2.898	0.00023	T	.	.	0.031	0.00001	B	.	.	0.043170	0.04589	1.264	0.56623206213519695	0.05592	0.00196	0.01131	N	AEFBI	0.026018	0.01879	N	-1.49490234655684	0.01886	0.08273223	-1.34381341161578	0.03879	0.1818628	0.0251342608522216	0.13628	0.695654	0.57023	0	0.633656	0.55848	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.06	1.9	0.24770	1.115000	0.30823	.	.	-0.699000	0.04065	0.058000	0.21700	0.006000	0.19429	0.003000	0.05239	0.2047:0.0:0.7953:0.0	7.784	0.28243	754	0.51307	.	.	.	.	.	.	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	6859.98	38	chr19	40396784	.	A	G	6859.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.430e+00;DP=1380;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.68;MQRankSum=-4.378e+00;QD=11.67;ReadPosRankSum=-2.020e-01;SOR=0.643	GT:AD:DP:GQ:PL	0/1:299,289:588:99:6874,0,7969	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	1|1:0,38,0:38:99:1|1:40667975_C_T:1626,114,0,1626,114,1626:40667975	4	8	8	0
chr19	40749800	40749800	T	C	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353806:exon1:c.A4G:p.T2A	.	.	419	1074	28	1	0	30	0.0137741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.19	T	0.0	B	0.001	B	.	.	0.958	D	0.69	N	.	.	-1.071	T	0.085	T	0.106	3.106	16.38	1.97	0.242	1.925	5.239	0.071	.	.	0.00459265	0.0066	0	0.0091	0	0	0.0040	0.0217	0.0397	0.0012031	186	154602	rs77405258	0.0032	0.0031	0.0027	0.0037	0.0214	0.0031	0.0030	0.0205	0.0201	0.0005	0.0015	0.0019	5.896e-05	0.0017	0.0129	0.0022	0.0043	0.0214	0.0023	0.0023	0.0021	0.0024	0.0166	0.0021	0.0020	0.0137	0.0126	0.0003	0	0.0009	0.0012	0	0.0010	0.0068	0.0032	0.0043	0.0166	0.106	0.29688	T	0.686	0.05995	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.958332	0.38070	D	1.39	0.34934	L	.	.	.	-0.12	0.08809	N	0.068	0.04072	-1.0706	0.09282	T	0.085	0.33071	T	8	0.005978763	0.00134	T	.	.	.	0.071	0.20720	.	.	0.0401082797425	0.02173	0.17448304156321293	0.17367	0.0655047151774	0.07310	.	.	.	0.014124	0.12084	T	-0.56184	0.00247	T	-0.563565	0.16044	T	0.00801682386829881	0.00095	T	0.292471	0.05369	T	0.047277898	0.08055	0.06292982	0.12389	0.047277898	0.08055	0.06292982	0.12389	-1.865	0.02710	T	.	.	0.074	0.05188	B	.	.	2.192509	0.27955	17.64	0.95269432342691551	0.26549	0.62380	0.31764	D	AEFDGBHCI	0.108007	0.21501	N	-0.618643317104922	0.18384	0.9540536	-0.55448913479412	0.20687	1.115675	0.999999828014593	0.74766	0.542737	0.22433	0	0.52208	0.09955	0	0.685571	0.62057	0	0.627883	0.49187	0	.	.	4.15	1.97	0.25278	2.188000	0.42243	.	.	0.665000	0.62972	0.999000	0.42656	0.998000	0.33993	0.641000	0.32449	0.0:0.2675:0.0:0.7325	5.239	0.14782	488	0.76887	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	2855.11	83	chr19	40749800	.	T	C	2855.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.18;DP=1629;ExcessHet=0.1072;FS=1.034;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=12.92;ReadPosRankSum=1.87;SOR=0.611	GT:AD:DP:GQ:PL	0/1:43,58:101:99:1513,0,1156	19	0	2	0
chr19	41089049	41089049	C	T	exonic	CYP2A13	.	stopgain	CYP2A13:NM_000766:exon2:c.C301T:p.R101X,	.	.	2	1487	32	1	0	34	0.0113032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	.	.	.	.	0.000	U	1.000	A	.	.	.	.	.	.	.	.	.	2.305	13.66	2.42	0.794	0.470	7.977	.	.	.	0.00379393	0.0059	0.0013	0.0041	0.0021	0.0011	0.0089	0.0055	0.0024	0.0008926	138	154602	rs72552266	0.0073	0.0074	0.0073	0.0073	0.0085	0.0072	0.0071	0.0084	0.0083	0.0013	0.0062	0.0013	0.0031	0.0021	0.0081	0.0085	0.0058	0.0023	0.0058	0.0059	0.0061	0.0056	0.0096	0.0055	0.0054	0.0090	0.0087	0.0016	0.0055	0.0067	0.0009	0.0021	0.0017	0.0136	0.0096	0.0071	0.0019	.	.	.	.	.	.	.	.	.	.	.	.	0.000001	0.84330	U	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.55	0.57604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.03345	0.46913	T	0.190206	0.82582	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant	High	8.654714	0.97843	38	0.99018416925873998	0.50527	0.24172	0.22310	N	AEFDBI	0.119291	0.23289	N	-0.142180447368628	0.35569	2.044669	-0.457264541210373	0.23343	1.272483	2.66261029611125E-5	0.03498	0.59774	0.34471	0	0.59043	0.45803	0	0.596491	0.31596	0	0.530356	0.10902	0	.	.	3.49	2.42	0.28720	0.030000	0.13576	-0.636000	0.08101	-0.256000	0.07045	0.003000	0.16062	0.000000	0.08366	0.009000	0.08673	0.1802:0.6446:0.1752:0.0	7.977	0.29326	730	0.54327	.	.	.	.	.	.	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	1745.98	38	chr19	41089049	.	C	T	1745.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.900e-02;DP=836;ExcessHet=0.0000;FS=4.473;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=55.92;MQRankSum=0.299;QD=14.80;ReadPosRankSum=-9.890e-01;SOR=0.575	GT:AD:DP:GQ:PL	0/1:51,67:118:99:1760,0,1228	20	0	1	0
chr19	41838976	41838976	G	A	exonic	LYPD4	.	nonsynonymous SNV	LYPD4:NM_173506:exon3:c.C116T:p.A39V,	.	.	431	1070	20	1	0	22	0.0101758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.884	P	0.268	B	0.011	N	1.000	D	1.95	M	3.35	T	-1.000	T	0.019	T	0.323	1.053	9.299	1.65	0.571	2.260	10.029	0.075	.	7.7e-05	0.00419329	0.0045	0.0002	0.0002	0.0003	0	0.0002	0.0011	0.0321	0.0038292	592	154602	rs202011969	0.0020	0.0020	0.0012	0.0029	0.0306	0.0020	0.0020	0.0296	0.0292	5.974e-05	0.0001	0	7.557e-05	1.876e-05	0.0052	0.0002	0.0023	0.0306	0.0012	0.0012	0.0006	0.0018	0.0328	0.0010	0.0010	0.0286	0.0270	7.236e-05	0	6.549e-05	0	0.0004	0	0.0102	0.0001	0.0019	0.0328	.	.	.	0.0	0.92824	D	0.884	0.48618	P	0.268	0.39801	B	0.011196	0.29626	N	0.158192	0.999997	0.58761	D	2.35	0.67516	M	.	.	.	.	.	.	0.515	0.54584	-1.0003	0.29831	T	0.019	0.07753	T	10	0.008364201	0.00190	T	.	.	.	.	.	.	.	0.0297737177859	0.01360	0.19926414201924622	0.19843	.	.	0.547485947609	0.45503	T	0.01609	0.13370	T	-0.389767	0.02700	T	-0.308965	0.43769	T	0.0276001529773976	0.01631	T	0.549145	0.18877	T	0.02735461	0.01916	0.098622054	0.23520	0.02735461	0.01916	0.098622054	0.23519	-4.139	0.25863	T	.	.	0.505	0.64803	A	.	.	2.269414	0.29007	17.98	0.98122709793049778	0.38448	0.47354	0.27964	N	AEFBCI	0.063194	0.12195	N	-0.2488027782671	0.31151	1.743895	-0.319272301007583	0.27476	1.524913	0.0271449519002789	0.13756	0.446893	0.09132	0	0.563428	0.19063	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.91	1.65	0.23015	2.281000	0.43113	2.360000	0.32366	-0.165000	0.11486	0.994000	0.38300	0.996000	0.32793	0.189000	0.21571	0.0:0.403:0.597:0.0	10.029	0.41260	754	0.51307	.	.	.	.	.	.	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	1555.98	80	chr19	41838976	.	G	A	1555.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.320e+00;DP=1626;ExcessHet=0.0000;FS=1.404;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.16;ReadPosRankSum=-5.300e-02;SOR=0.849	GT:AD:DP:GQ:PL	0/1:68,60:128:99:1570,0,1848	20	0	1	0
chr19	42054432	42054432	A	G	exonic	GRIK5	.	nonsynonymous SNV	GRIK5:NM_001301030:exon8:c.T944C:p.V315A	.	.	419	1095	8	0	0	8	0.00363967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.997	D	0.984	D	0.000	D	0.998	D	0.62	N	-0.95	T	-0.546	T	0.354	T	0.755	2.449	14.15	5.14	2.069	5.797	14.240	0.424	0.0545775151713	.	0.000399361	0.0004	0	0.0002	0	0	0.0002	0	0.0025	0.0003816	59	154602	rs549244829	0.0002	0.0002	0.0001	0.0003	0.0033	0.0002	0.0002	0.0022	0.0018	0	0.0001	0	0	0	0.0033	6.385e-05	0.0002	0.0022	0.0001	0.0001	5.139e-05	0.0002	0.0029	8.162e-05	6.719e-05	0.0018	0.0014	0	0	0	0	0	0	0.0068	4.41e-05	0	0.0029	1.0	0.00964	T	1.0	0.01155	T	0.997	0.70673	D	0.984	0.76113	D	0.000001	0.84330	D	0.000000	0.998234	0.44662	D	0.605	0.15622	N	-0.95	0.75438	T	0.16	0.05604	N	0.477	0.53006	-0.5460	0.66937	T	0.354	0.71758	T	10	0.021948755	0.00536	T	0.054578	0.65908	D	0.424	0.73226	.	.	0.718785486845	0.71631	0.8067408139557206	0.80629	1.35881551398	0.84260	0.720992326736	0.70191	T	0.073675	0.34754	T	-0.16798	0.25539	T	-0.0205437	0.68992	D	0.110998417031492	0.13527	T	0.80032	0.49964	T	0.14312698	0.32909	0.1560535	0.36553	0.14312698	0.32908	0.1560535	0.36552	-10.15	0.74805	D	0.19077899806427884	0.25007	0.390	0.66277	A	.;.;.	.;.;.	4.719073	0.75895	26.4	0.97938858264208672	0.37013	0.86037	0.45245	D	AEFBHCI	0.713528	0.66630	D	0.306852531489206	0.56501	3.814754	0.362736736300429	0.59277	4.104325	0.999999980649335	0.74766	0.67177	0.52595	0	0.610034	0.51514	0	0.702456	0.68683	0	0.564101	0.26826	0	.	.	5.14	5.14	0.70008	5.790000	0.68684	11.165000	0.87778	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	1.0:0.0:0.0:0.0	14.240	0.65499	851	0.35303	Receptor, ligand binding region;Receptor, ligand binding region;.	.	.	.	.	.	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	1341.98	35	chr19	42054432	.	A	G	1341.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.221;DP=853;ExcessHet=0.0000;FS=1.331;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.32;ReadPosRankSum=0.467;SOR=0.732	GT:AD:DP:GQ:PL	0/1:83,61:144:99:1356,0,2018	20	0	1	0
chr19	42095399	42095399	C	G	exonic	POU2F2	.	nonsynonymous SNV	POU2F2:NM_001207025:exon11:c.G1018C:p.V340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.999	D	0.989	D	0.000	D	1.000	D	3.53	H	-4.0	D	1.095	D	0.951	D	0.859	4.691	26.0	3.99	2.214	7.600	15.399	0.939	0.359661340362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.998	0.77913	D	0.989	0.78396	D	0.000001	0.84330	D	0.000000	1	0.81001	D	3.015	0.86134	M	-4.0	0.96339	D	-3.0	0.62343	D	0.826	0.82862	1.095	0.99469	D	0.951	0.98412	D	10	0.89701736	0.89057	D	0.359661	0.92479	D	0.939	0.98672	0.557	0.67547	0.949703262491	0.94917	0.9550304941655845	0.95488	2.60485491865	0.98196	0.885964512825	0.94748	D	0.792883	0.99163	D	0.495984	0.94173	D	0.47467	0.94096	D	0.993351914106228	0.84121	D	0.988801	0.96255	D	0.74310046	0.80470	0.69191414	0.81869	0.74310046	0.80471	0.69191414	0.81870	-12.988	0.89314	D	.	.	1.000	0.99395	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.327483	0.89412	30	0.99782441860528814	0.86867	0.97748	0.76847	D	AEFBI	0.946708	0.95645	D	0.844617874197824	0.88800	9.71644	0.738513627196856	0.85298	8.538503	0.999999999650972	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.667671	0.60360	0	0.699875	0.68795	0	.	.	3.99	3.99	0.45527	7.854000	0.85267	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	15.399	0.74539	846	0.36215	.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;.;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|POU domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox 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	0.225	1076.49	79	chr19	42095399	.	C	G	1076.49	.	AC=9;AF=0.225;AN=40;BaseQRankSum=-3.789e+00;DP=1906;ExcessHet=4.7172;FS=144.686;InbreedingCoeff=-0.3152;MLEAC=10;MLEAF=0.250;MQ=60.00;MQRankSum=0.00;QD=1.33;ReadPosRankSum=0.594;SOR=10.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:44,20:64:99:0|1:42095395_A_G:176,0,993:42095395	11	0	9	1
chr19	42313420	42313420	C	T	exonic	TMEM145	.	nonsynonymous SNV	TMEM145:NM_001366910:exon1:c.C44T:p.P15L	.	.	355	1134	32	1	0	34	0.0147698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.65	T	0.983	D	0.726	P	0.259	U	0.993	D	0	N	1.06	T	-1.135	T	0.054	T	0.461	2.701	14.99	3.1	1.755	0.489	9.887	0.148	.	0.0025	0.00399361	0.0343	0	0	0	.	0.0249	0	0.0434	0.001313	203	154602	rs185966365	0.0050	0.0048	0.0049	0.0051	0.0186	0.0049	0.0049	0.0149	0.0140	0.0011	0.0020	0.0046	0	0.0076	0.0186	0.0046	0.0049	0.0152	0.0041	0.0041	0.0038	0.0044	0.0149	0.0038	0.0037	0.0121	0.0111	0.0013	0	0.0023	0.0032	0	0.0069	0.0171	0.0054	0.0038	0.0149	0.279	0.15561	T	0.126	0.35710	T	0.983	0.60381	D	0.726	0.55126	P	0.259431	0.15345	U	0.503609	0.99268	0.41714	D	1.39	0.34934	L	1.06	0.40469	T	0.5	0.02945	N	0.268	0.33578	-1.1348	0.01566	T	0.054	0.22770	T	10	0.006735027	0.00153	T	.	.	.	0.148	0.39182	.	.	0.558188439259	0.55478	0.29007636121236113	0.28920	0.512096811149	0.49265	0.884096682072	0.94505	D	0.006043	0.05478	T	-0.446652	0.01182	T	-0.402037	0.33148	T	0.0519023033639907	0.05831	T	0.727127	0.34152	T	0.09535335	0.22439	0.0749732	0.16457	0.09535335	0.22438	0.0749732	0.16457	-4.193	0.26650	T	.	.	0.114	0.22825	B	.;.	.;.	2.105866	0.26793	17.24	0.98485797629163652	0.42037	0.22804	0.21868	N	ALL	0.099040	0.19944	N	-0.0501813097093484	0.39595	2.337449	-0.0263752501979248	0.38528	2.27117	0.999999999996277	0.74766	0.685219	0.55550	0	0.748881	0.99253	0	0.674405	0.61402	0	0.554799	0.18163	0	.	.	3.1	3.1	0.34780	0.830000	0.27115	0.743000	0.21176	0.444000	0.21144	0.005000	0.17040	0.996000	0.32793	0.951000	0.49849	0.0:1.0:0.0:0.0	9.887	0.40439	571	0.70397	.;.	.	.	.	.	.	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	222.98	34	chr19	42313420	.	C	T	222.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.08;DP=696;ExcessHet=0.0000;FS=3.492;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=8.26;ReadPosRankSum=-1.482e+00;SOR=1.445	GT:AD:DP:GQ:PL	0/1:17,10:27:99:237,0,412	20	0	1	0
chr19	42916188	42916188	G	A	exonic	PSG6	.	nonsynonymous SNV	PSG6:NM_001031850:exon2:c.C364T:p.H122Y	.	.	12	1467	36	7	0	50	0.016756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.93	P	0.83	P	.	.	1.000	N	1.555	L	-0.15	T	-0.830	T	0.225	T	0.21	1.416	10.67	-4.05	-0.447	-0.937	0.152	0.239	.	0.0012	0.00259585	0.0040	0.0002	0.0014	0	0.0002	0.0021	0.0044	0.0194	0.0034282	530	154602	rs139119415	0.0025	0.0025	0.0020	0.0031	0.0185	0.0025	0.0024	0.0178	0.0174	0.0003	0.0010	0.0033	5.044e-05	0.0001	0.0141	0.0016	0.0027	0.0185	0.0016	0.0017	0.0014	0.0019	0.0133	0.0015	0.0014	0.0107	0.0097	0.0001	0	0.0017	0.0009	0	0.0002	0.0171	0.0021	0.0010	0.0133	0.004	0.68238	D	0.047	0.72224	D	0.93	0.51791	P	0.758	0.59611	P	.	.	.	.	1	0.08975	N	2.32	0.66415	M	-0.15	0.65192	T	-1.86	0.45587	N	0.115	0.12770	-0.8301	0.53295	T	0.225	0.58881	T	9	0.006159097	0.00139	T	.	.	.	0.239	0.54358	.	.	0.176091768786	0.17195	0.06928119303869801	0.06866	.	.	.	.	.	0.072374	0.34437	T	-0.46887	0.00864	T	-0.452752	0.27393	T	0.0163900769818029	0.00407	T	0.626737	0.27137	T	0.087712385	0.20436	0.13352163	0.32015	0.087712385	0.20436	0.13352163	0.32014	-5.809	0.44653	T	.	.	0.087	0.18037	B	.;.;.;.	.;.;.;.	0.732079	0.11013	7.671	0.95392029452268079	0.26832	0.00242	0.01343	N	AEFGI	0.035754	0.04655	N	-0.81176743570302	0.13009	0.637949	-1.08289132577062	0.08037	0.3934445	0.00276824863812657	0.09691	0.554377	0.28877	0	0.547309	0.14657	0	0.573888	0.23631	0	0.567892	0.33627	0	.	.	2.24	-4.05	0.03730	-0.455000	0.06837	-14.841000	0.00384	-0.352000	0.05559	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.281:0.2257:0.2665:0.2268	0.152	0.00088	749	0.51929	.;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set domain|Immunoglobulin subtype;Immunoglobulin V-set 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	14172.08	33	chr19	42916188	.	G	A	14172.08	.	AC=2;AF=0.048;AN=42;DP=3790;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=59.99;QD=32.21;SOR=1.112	GT:AD:DP:GQ:PL	1/1:0,440:440:99:14200,1320,0	20	1	0	0
chr19	43362117	43362117	G	A	exonic	CD177	.	nonsynonymous SNV	CD177:NM_020406:exon9:c.G1111A:p.G371S,	.	.	407	1114	1	0	0	1	0.000448632	.	.	2197183	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0	0	0.0001	0	0.0005	0.00011	17	154602	rs756448661	8.69e-05	8.687e-05	8.033e-05	9.353e-05	0.0012	7.422e-05	6.97e-05	0.0006	0.0004	0	6.71e-05	0	0	0	0.0012	6.926e-05	0.0001	0.0004	5.918e-05	5.911e-05	3.856e-05	8.076e-05	0.0008	3.079e-05	2.211e-05	0.0003	0.0002	0	0	0	0	0	0	0	5.882e-05	0.0005	0.0008	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.898942	0.36125	D	.	.	.	.	.	.	.	.	.	0.521	0.55106	.	.	.	.	.	.	.	0.35770813	0.52480	T	.	.	.	.	.	.	.	0.191931220699	0.18833	0.7030174374622209	0.70242	.	.	0.390601396561	0.23755	T	.	.	.	-0.0555216	0.43605	T	-0.00701083	0.69880	D	.	.	.	0.663534	0.27241	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.69020	P	.	.	3.706963	0.52905	23.3	0.75113807620055828	0.10950	0.44578	0.27349	N	AEFDBCI	0.055398	0.10154	N	.	.	.	.	.	.	0.00197310555689982	0.09053	0.162113	0.03585	0	0.063388	0.01293	0	0.175069	0.04249	0	0.057018	0.00518	0	.	.	3.4	2.36	0.28258	1.977000	0.40211	.	.	0.564000	0.28548	0.898000	0.31380	1.000000	0.68203	0.073000	0.16832	0.135:0.0:0.865:0.0	6.420	0.20939	884	0.28482	Ly-6 antigen/uPA receptor-like	.	.	.	.	.	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	4181.98	36	chr19	43362117	.	G	A	4181.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.85;DP=1042;ExcessHet=0.0000;FS=0.409;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.11;ReadPosRankSum=-8.120e-01;SOR=0.730	GT:AD:DP:GQ:PL	0/1:159,160:319:99:4196,0,3984	20	0	1	0
chr19	45890811	45890811	C	T	exonic	MYPOP	.	nonsynonymous SNV	MYPOP:NM_001012643:exon3:c.G1012A:p.V338M,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.999	D	0.886	P	0.010	N	1.000	N	0.345	N	0.73	T	-0.983	T	0.137	T	0.328	1.813	12.02	3.65	1.972	1.548	11.564	0.086	0.144873332291	.	.	0.0006	0	0.0061	0	0	0.0002	0	0	8.41e-05	13	154602	rs767770043	9.359e-05	0.0001	7.663e-05	0.0001	0.0009	7.926e-05	7.37e-05	0.0007	0.0007	7.895e-05	0.0009	0	0.0001	0	0.0005	1.707e-05	0.0001	0.0009	6.418e-05	6.104e-05	6.021e-05	6.87e-05	0.0011	3.155e-05	2.289e-05	0.0004	0.0002	3.03e-05	0	0.0001	0	0	0	0	3.192e-05	0	0.0011	0.007	0.59928	D	0.204	0.27235	T	0.999	0.77913	D	0.886	0.62898	P	0.010193	0.30029	N	0.142736	0.999861	0.19989	N	0.55	0.14455	N	0.73	0.50721	T	-0.56	0.17003	N	0.226	0.25377	-0.9829	0.34328	T	0.137	0.45432	T	10	0.011066467	0.00243	T	0.144873	0.82710	D	0.086	0.25016	.	.	0.147330786459	0.14319	0.15549362507141315	0.15470	0.867531014331	0.69267	0.898566484451	0.96279	D	0.008789	0.08043	T	-0.377652	0.03223	T	-0.405603	0.32734	T	0.0633792678855372	0.07690	T	0.648035	0.25918	T	0.098697186	0.23283	0.10657172	0.25640	0.098697186	0.23283	0.10657172	0.25639	-6.033	0.46555	T	.	.	0.302	0.53151	B	.	.	4.008100	0.59104	24.1	0.99843931349653881	0.92403	0.63618	0.32146	D	AEFBI	0.073893	0.14794	N	0.116657614989005	0.47240	2.952502	0.0565149321894078	0.42389	2.562944	0.677158666838935	0.22438	0.646311	0.45356	0	0.588066	0.40923	0	0.645312	0.48771	0	0.528226	0.09195	0	.	.	3.65	3.65	0.40985	2.239000	0.42728	4.302000	0.42943	0.503000	0.22915	0.938000	0.32564	1.000000	0.68203	0.205000	0.22041	0.0:1.0:0.0:0.0	11.564	0.50046	712	0.56465	.	.	.	.	.	.	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	660.98	32	chr19	45890811	.	C	T	660.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.630e-01;DP=753;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.06;ReadPosRankSum=-1.070e+00;SOR=0.819	GT:AD:DP:GQ:PL	0/1:21,26:47:99:675,0,551	20	0	1	0
chr19	46495292	46495292	C	T	exonic	PNMA8B	.	nonsynonymous SNV	PNMA8B:NM_020709:exon1:c.G174A:p.M58I,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.0	B	0.0	B	.	.	1.000	N	0	N	3.0	T	-0.963	T	0.013	T	0.048	1.478	10.89	-3.59	-0.578	-0.301	4.869	0.012	0.00652259998315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.653e-06	4.802e-06	6.254e-06	3.078e-06	1.205e-05	1.67e-06	1.1e-06	9.8e-07	6.6e-07	0	0	0	0	0	0	4.191e-06	1.828e-05	1.205e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.04842	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.0	0.09167	T	.	.	.	0.055	0.02658	-0.9628	0.38645	T	0.013	0.04843	T	9	0.05109963	0.04941	T	0.006523	0.17186	T	.	.	0.362	0.36711	0.0138822411134	0.00435	0.2219468260147951	0.22109	.	.	0.277452111244	0.07140	T	0.008466	0.07774	T	-0.411673	0.01938	T	-0.829116	0.01278	T	0.0368789114857155	0.03135	T	0.328467	0.06836	T	0.08545733	0.19825	0.09974181	0.23825	0.08545733	0.19824	0.09974181	0.23825	-4.275	0.27825	T	.	.	0.272	0.50609	B	.	.	0.678525	0.10471	7.187	0.88511318923139526	0.18035	0.01357	0.04648	N	AEFDBI	0.038881	0.05567	N	-1.38144742577584	0.02812	0.124715	-1.46393517371938	0.02646	0.122084	0.853529847448134	0.25089	0.65757	0.49021	0	0.563428	0.19063	0	0.619478	0.44681	0	0.63947	0.58350	0	.	.	2.76	-3.59	0.04290	-0.169000	0.09900	-0.004000	0.13159	-0.230000	0.07744	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.2821:0.4619:0.256	4.869	0.12981	866	0.32446	.	.	.	.	.	.	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	3017.98	36	chr19	46495292	.	C	T	3017.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-9.640e-01;DP=1016;ExcessHet=0.0000;FS=2.195;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.90;ReadPosRankSum=-4.370e-01;SOR=0.565	GT:AD:DP:GQ:PL	0/1:115,119:234:99:3032,0,2921	20	0	1	0
chr19	47362499	47362499	G	T	exonic	DHX34	.	nonsynonymous SNV	DHX34:NM_014681:exon6:c.G1399T:p.D467Y,	.	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.999	D	0.000	D	1.000	D	3.97	H	4.09	T	-0.894	T	0.072	T	0.975	4.857	27.7	5.6	2.637	6.343	18.362	0.482	.	0.0002	0.00119808	0.0018	0.0005	0.0006	0	0	0.0006	0.0072	0.0105	0.0011255	174	154602	rs145555932	0.0007	0.0007	0.0005	0.0009	0.0077	0.0007	0.0007	0.0072	0.0070	0.0002	0.0002	0.0011	0.0001	1.883e-05	0.0044	0.0002	0.0008	0.0077	0.0005	0.0005	0.0003	0.0007	0.0071	0.0004	0.0004	0.0052	0.0045	0.0003	0	0.0001	0.0012	0.0002	0	0	0.0003	0.0005	0.0071	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.000000	1	0.81001	D	3.635	0.94052	H	4.09	0.02973	T	-7.93	0.96269	D	0.919	0.92200	-0.8940	0.48577	T	0.072	0.29163	T	10	0.031396925	0.01274	T	.	.	.	0.482	0.77206	.	.	0.655384900829	0.65251	0.8647843333440839	0.86442	0.828181939262	0.67508	0.689908564091	0.65693	T	0.745668	0.92991	D	-0.0664156	0.41897	T	0.13709	0.79355	D	0.207733088600426	0.20834	T	0.944206	0.78893	D	0.9354856	0.94789	0.86860865	0.92769	0.9354856	0.94789	0.86860865	0.92770	-10.29	0.75630	D	.	.	0.427	0.61041	A	.	.	5.427909	0.90780	31	0.99541459357018669	0.70523	0.98123	0.79794	D	AEFBI	0.726663	0.67525	D	0.992526845165814	0.95510	13.68906	0.904266420705978	0.95755	13.93583	0.999999999999339	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	7.800000	0.84516	11.510000	0.92999	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.656000	0.32857	0.0:0.0:1.0:0.0	18.362	0.90321	753	0.51500	Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal|Helicase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1480.11	39	chr19	47362499	.	G	T	1480.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.83;DP=782;ExcessHet=0.1072;FS=1.632;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=1.64;SOR=0.525	GT:AD:DP:GQ:PL	0/1:33,21:54:99:550,0,825	19	0	2	0
chr19	47780906	47780906	C	T	exonic	SELENOW	.	unknown	UNKNOWN,	.	.	421	1091	9	1	0	11	0.00501596	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	T	0.0	B	0.0	B	0.919	N	1.000	N	.	.	0.94	T	-1.038	T	0.001	T	0.172	1.331	10.37	-3.89	-0.647	-0.116	11.183	0.037	.	0.0002	0.0253594	0.0100	0.0006	0.0007	0.1208	0.0019	0.0010	0.0060	0.0031	0.0090296	1396	154602	rs80333860	0.0042	0.0042	0.0043	0.0041	0.1184	0.0041	0.0041	0.1156	0.1144	0.0004	0.0004	0.0015	0.1184	0.0018	0.0021	0.0005	0.0072	0.0036	0.0048	0.0049	0.0042	0.0055	0.1215	0.0045	0.0044	0.1135	0.1104	0.0004	0	0.0009	0.0012	0.1215	0.0008	0	0.0006	0.0052	0.0050	0.054	0.38633	T	0.059	0.46182	T	0.0	0.02946	B	0.0	0.01387	B	0.918827	0.08501	N	0.961651	0.999999	0.08975	N	.	.	.	0.94	0.43672	T	-0.18	0.09796	N	0.278	0.32591	-1.0375	0.18078	T	0.001	0.00438	T	9	0.0016022921	0.00019	T	.	.	.	0.037	0.09474	.	.	0.134241683229	0.13084	.	.	0.0979953761928	0.11061	0.443825602531	0.31099	T	0.015291	0.14613	T	-0.650431	0.00072	T	-0.599954	0.12816	T	0.0146846796753103	0.00305	T	0.178882	0.01767	T	0.04818381	0.08357	0.05038276	0.07897	0.04818381	0.08356	0.05038276	0.07896	.	.	.	.	.	0.056	0.01367	B	.;.;.;.;.	.;.;.;.;.	1.235350	0.16305	12.45	0.95245460720698705	0.26495	0.03834	0.09181	N	AEFDBCI	0.175896	0.30309	N	-1.07627306900191	0.07082	0.3279762	-1.13093928832153	0.07115	0.344888	0.999903079962271	0.45458	0.744818	0.98587	0	0.732433	0.95613	0	0.698795	0.65105	0	0.714379	0.83352	0	.	.	4.27	-3.89	0.03916	-0.055000	0.11763	-0.328000	0.09912	-1.689000	0.00774	0.269000	0.25036	0.000000	0.08366	0.031000	0.13245	0.0:0.7264:0.0:0.2736	11.183	0.47869	906	0.23090	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.07143	5976.68	139	chr19	47780906	.	C	T	5976.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=0.444;DP=1236;ExcessHet=0.3300;FS=3.213;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=60.00;MQRankSum=0.00;QD=13.05;ReadPosRankSum=-4.330e-01;SOR=0.576	GT:AD:DP:GQ:PL	0/1:71,69:140:99:1934,0,1767	18	0	3	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	0/1:40,42,0,0:82:99:.:.:1470,0,1375,1590,1500,3090,1590,1500,3090,3090	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	0/1:40,42,0,0:82:99:.:.:1470,0,1375,1590,1500,3090,1590,1500,3090,3090	5	4	8	0
chr19	49865203	49865203	C	T	exonic	PNKP	.	nonsynonymous SNV	PNKP:NM_007254:exon4:c.G422A:p.R141Q,	Ataxia-oculomotor apraxia 4, Autosomal recessive;Microcephaly, seizures, and developmental delay, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	203610	not_provided|Developmental_and_epileptic_encephalopathy,_12|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013389,MedGen:C3150988,OMIM:613722|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.65	T	0.323	B	0.039	B	0.456	N	1.000	N	1.1	L	0.95	T	-1.074	T	0.072	T	0.407	0.704	7.756	4.12	2.297	2.321	12.014	0.070	0.0202145456815	.	0.000199681	0.0001	0	8.661e-05	0	0	3.008e-05	0	0.0009	0.0001229	19	154602	rs570013652	9.235e-05	9.235e-05	5.309e-05	0.0001	0.0012	7.958e-05	7.431e-05	0.0010	0.0010	0	0	0	2.519e-05	0	0.0002	2.158e-05	6.623e-05	0.0012	3.282e-05	3.28e-05	2.569e-05	4.027e-05	0.0008	1.26e-05	7.97e-06	0.0003	0.0002	0	0	0	0	0	0	0	1.47e-05	0	0.0008	0.361	0.11882	T	0.261	0.22962	T	0.182	0.29148	B	0.023	0.19966	B	0.456163	0.12447	N	0.688017	0.999999	0.08975	N	2.56	0.74772	M	0.66	0.52416	T	0.0	0.07008	N	0.434	0.47301	-1.0736	0.08639	T	0.072	0.29259	T	10	0.02307123	0.00593	T	0.020215	0.42769	T	0.070	0.20419	0.304	0.27325	0.494165489436	0.49052	0.3349458067103662	0.33407	0.141977382517	0.16002	0.41095867753	0.26590	T	0.018728	0.24335	T	-0.36716	0.03741	T	-0.345728	0.39693	T	0.0383052167266601	0.03386	T	0.951205	0.84033	D	0.104442835	0.24689	0.055586793	0.09779	0.078177765	0.17788	0.053364135	0.08975	-9.886	0.73226	D	0.11294136288218565	0.09827	0.087	0.19879	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.690266	0.52580	23.3	0.97905143121443994	0.36773	0.34973	0.25193	N	AEFDGBI	0.109861	0.21806	N	-0.439222807868307	0.24106	1.299346	-0.373768160179192	0.25781	1.419945	0.999999993332086	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.696144	0.63334	0	0.735409	0.98432	0	.	.	4.12	4.12	0.47504	2.119000	0.41582	4.751000	0.44659	0.599000	0.40250	0.567000	0.27481	1.000000	0.68203	0.467000	0.28274	0.0:1.0:0.0:0.0	12.014	0.52596	594	0.68584	.;.;.;.;.;.;.	.	.	.	.	.	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	1867.98	47	chr19	49865203	.	C	T	1867.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.27;DP=980;ExcessHet=0.0000;FS=3.792;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.60;ReadPosRankSum=1.04;SOR=0.454	GT:AD:DP:GQ:PL	0/1:90,71:161:99:1882,0,2307	20	0	1	0
chr19	50046997	50046997	C	T	exonic	ZNF473	.	nonsynonymous SNV	ZNF473:NM_001308424:exon4:c.C2518T:p.R840W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.999	D	0.912	D	1.000	N	1.000	N	2.29	M	1.55	T	-0.984	T	0.107	T	0.236	2.215	13.36	-8.6	-1.785	-2.395	1.884	0.084	0.0205101883379	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1031592392	1.71e-05	1.71e-05	2.042e-05	1.375e-05	2.158e-05	1.174e-05	9.92e-06	1.46e-05	1.227e-05	0	0	0	0	0	0	2.158e-05	1.656e-05	0	2.629e-05	2.627e-05	2.57e-05	2.691e-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	0.033	0.48186	D	0.034	0.54159	D	0.999	0.77913	D	0.912	0.64797	D	0.999546	0.07975	N	0.999675	1	0.08975	N	2.77	0.80896	M	1.55	0.29866	T	-2.61	0.58407	D	0.154	0.17002	-0.9837	0.34140	T	0.107	0.38906	T	10	0.10687795	0.19826	T	0.02051	0.43119	T	0.084	0.24469	0.478	0.55663	0.248133497653	0.24425	0.10038491969269771	0.09969	0.456204352265	0.45275	0.212517678738	0.00923	T	0.089626	0.38413	T	-0.22101	0.17857	T	-0.555242	0.16826	T	0.389079838991165	0.28529	T	0.429357	0.15803	T	0.040720306	0.05866	0.035221912	0.02732	0.040720306	0.05866	0.035221912	0.02732	-8.581	0.64963	D	.	.	0.376	0.62361	A	.;.;.;.	.;.;.;.	1.454906	0.18762	13.91	0.98618195375465301	0.43731	0.00102	0.00658	N	AEFDGBHCI	0.184455	0.31178	N	-0.825996352749145	0.12648	0.6178542	-1.18856592407846	0.06099	0.2925902	0.99999999997245	0.74766	0.719381	0.83141	0	0.723133	0.82719	0	0.779548	0.98927	0	0.635551	0.53088	0	.	.	4.3	-8.6	0.00773	-1.974000	0.01589	-1.461000	0.05387	-0.239000	0.07538	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.326:0.2938:0.2683:0.1118	1.884	0.03037	740	0.53092	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.02381	1339.98	43	chr19	50046997	.	C	T	1339.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.53;DP=815;ExcessHet=0.0000;FS=1.812;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.56;ReadPosRankSum=0.215;SOR=0.456	GT:AD:DP:GQ:PL	0/1:43,49:92:99:1354,0,1040	20	0	1	0
chr19	51627999	51627999	G	T	exonic	SIGLEC5	.	nonsynonymous SNV	SIGLEC5:NM_001384708:exon5:c.C832A:p.H278N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.51	T	0.004	B	0.013	B	0.000	N	1.000	N	0.16	N	2.81	T	-0.987	T	0.015	T	0.094	0.912	8.710	-5.41	-1.097	-2.368	7.104	0.005	0.00507851968345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	0.07746	T	0.473	0.12142	T	0.004	0.12183	B	0.013	0.16460	B	0.000341	0.00575	N	5.274230	1	0.08975	N	-0.005	0.05143	N	2.81	0.10975	T	0.35	0.03761	N	0.098	0.07949	-0.9873	0.33273	T	0.015	0.05994	T	10	0.09958866	0.18081	T	0.005079	0.12877	T	0.005	0.00259	0.263	0.20788	0.110078149338	0.10416	0.0733372033612451	0.07270	.	.	0.253775537014	0.04176	T	5.5E-4	0.00219	T	-0.385736	0.02865	T	-0.791859	0.02114	T	0.146650433540344	0.16834	T	0.166983	0.01553	T	0.039566014	0.05485	0.041598573	0.04765	0.039566014	0.05485	0.041598573	0.04765	-4.079	0.24980	T	.	.	0.087	0.11654	B	.;.;.	.;.;.	-1.074111	0.00672	0.019	0.84508867679453736	0.15333	0.00219	0.01238	N	AEFBI	0.026621	0.02031	N	-1.60943526049171	0.01218	0.05296869	-1.66933723587684	0.01279	0.05768488	0.999772864628734	0.42865	0.615465	0.37627	0	0.633656	0.55848	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.76	-5.41	0.02442	-2.908000	0.00767	.	.	-0.242000	0.07441	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.0:0.2343:0.5563:0.2095	7.104	0.24529	982	0.03397	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	1	0	0	0	0.02381	1250.98	65	chr19	51627999	.	G	T	1250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.52;DP=884;ExcessHet=0.0000;FS=6.727;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.60;ReadPosRankSum=-1.145e+00;SOR=1.353	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1265,0,1232	20	0	1	0
chr19	52384817	52384817	-	TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG	exonic	ZNF880	.	frameshift insertion	ZNF880:NM_001145434:exon4:c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG:p.C413Ffs*26,	.	.	356	750	399	11	6	427	0.219157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0005	9.004e-05	0.0002	0	0.0002	0.0011	0.0001	.	.	.	.	0.0011	0.0034	0.0011	0.0011	0.0017	0.0011	0.0010	0.0015	0.0014	0.0015	0.0014	0.0027	0.0017	0.0016	0.0012	0.0009	0.0017	0.0017	0.0051	0.0069	0.0056	0.0045	0.0071	0.0048	0.0046	0.0051	0.0050	0.0046	0.0045	0.0056	0.0051	0.0026	0.0033	0.0106	0.0056	0.0030	0.0071	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2857	8259.44	38	chr19	52384817	.	T	TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAG,TTTGGGAGGCCGAGGCGG	8259.44	.	AC=1,11;AF=0.024,0.262;AN=42;BaseQRankSum=2.83;DP=1581;ExcessHet=9.6308;FS=104.319;InbreedingCoeff=-0.4000;MLEAC=1,11;MLEAF=0.024,0.262;MQ=58.44;MQRankSum=-8.940e-01;QD=11.25;ReadPosRankSum=-1.179e+00;SOR=7.257	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:49,0,18:67:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:590,744,2809,0,2065,2011:52384817	9	0	1	0
chr19	52384821	52384821	-	ATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1241_1242insATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC:p.K415Sfs*2,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs779596445	0.0025	0.0048	0.0023	0.0026	0.0055	0.0024	0.0024	0.0049	0.0047	0.0026	0.0023	0.0064	0.0055	0.0054	0.0049	0.0021	0.0039	0.0011	0.0043	0.0060	0.0044	0.0042	0.0054	0.0040	0.0039	0.0044	0.0042	0.0032	0.0046	0.0037	0.0089	0.0041	0.0034	0.0118	0.0048	0.0042	0.0054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1905	3280.27	29	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAA,GAT,GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3280.27	.	AC=3,3,2;AF=0.071,0.071,0.048;AN=42;BaseQRankSum=1.87;DP=1287;ExcessHet=3.5521;FS=78.611;InbreedingCoeff=-0.2353;MLEAC=3,3,2;MLEAF=0.071,0.071,0.048;MQ=58.72;MQRankSum=-1.592e+00;QD=8.99;ReadPosRankSum=-1.672e+00;SOR=8.320	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:51,0,12,0:63:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:350,504,2641,0,2137,2101,504,2641,2137,2641:52384817	13	0	3	0
chr19	52384823	52384823	-	TGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	exonic	ZNF880	.	stopgain	ZNF880:NM_001145434:exon4:c.1243_1244insTGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG:p.K415_R577delinsMRSGDRDHPG,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0024	0.0009	0.0008	0.0016	0.0008	0.0008	0.0013	0.0012	0.0013	0.0007	0.0025	0.0016	0.0021	0.0013	0.0007	0.0016	0.0003	0.0032	0.0058	0.0032	0.0032	0.0034	0.0030	0.0029	0.0031	0.0029	0.0028	0.0057	0.0034	0.0042	0.0020	0.0031	0.0038	0.0034	0.0035	0.0029	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07143	781.36	29	chr19	52384823	.	A	ATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC,ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG	781.36	.	AC=2,1;AF=0.048,0.024;AN=42;BaseQRankSum=0.162;DP=1374;ExcessHet=0.3300;FS=74.449;InbreedingCoeff=-0.0769;MLEAC=2,1;MLEAF=0.048,0.024;MQ=58.96;MQRankSum=-2.862e+00;QD=4.41;ReadPosRankSum=-2.141e+00;SOR=6.605	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,12,0:63:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:350,0,2101,504,2137,2641:52384817	18	0	2	0
chr19	52800865	52800865	T	C	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.A821G:p.Y274C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.521	P	0.028	B	.	.	1.000	N	2.795	M	2.43	T	-1.006	T	0.043	T	0.209	1.314	10.31	1.47	0.662	-1.157	4.328	0.072	0.00092516596351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.521	0.37531	P	0.028	0.21332	B	.	.	.	.	0.999996	0.08975	N	2.24	0.63355	M	2.43	0.15261	T	-6.37	0.93786	D	0.139	0.13769	-1.0059	0.28186	T	0.043	0.18493	T	9	0.6990278	0.72326	D	9.25E-4	0.00889	T	0.072	0.21020	0.84	0.94602	0.37568098594	0.37176	0.02280556293606497	0.02232	0.225795944007	0.25129	0.327523380518	0.14560	T	0.150993	0.49073	T	-0.260832	0.12804	T	-0.612444	0.11788	T	0.636123895645142	0.37873	D	0.447055	0.13557	T	0.20579676	0.42733	0.22764398	0.47780	0.20579676	0.42733	0.22764398	0.47779	-8.676	0.67316	D	.	.	0.123	0.36475	B	.;.;.	.;.;.	2.088309	0.26565	17.16	0.97704047733929666	0.35454	0.01904	0.05833	N	AEFBCI	0.067827	0.13353	N	-0.666863433316834	0.16971	0.8693336	-0.864313191923705	0.12944	0.668775	3.24511164211095E-4	0.06540	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.47	1.47	0.21832	-1.567000	0.02250	.	.	0.509000	0.23192	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.5093:0.0:0.0:0.4907	4.328	0.10490	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	.	.	.	.	.	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	2553.98	148	chr19	52800865	.	T	C	2553.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=3.02;DP=2269;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.58;ReadPosRankSum=-2.200e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:96,92:188:99:2568,0,2592	20	0	1	0
chr19	53015436	53015443	CCCTCCCC	-	exonic	ERVV-1	.	frameshift deletion	ERVV-1:NM_152473:exon1:c.1346_1353del:p.A449Vfs*15,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	415.94	33	chr19	53015435	.	GCCCTCCCC	G	415.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.240e+00;DP=1110;ExcessHet=0.0000;FS=148.122;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.25;ReadPosRankSum=2.49;SOR=7.167	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:299,35:334:99:0|1:53015435_GCCCTCCCC_G:430,0,12425:53015435	20	0	1	0
chr19	53015443	53015443	-	GGGTGGGG	exonic	ERVV-1	.	frameshift insertion	ERVV-1:NM_152473:exon1:c.1353_1354insGGGTGGGG:p.S452Gfs*95,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	356.94	33	chr19	53015443	.	C	CGGGTGGGG	356.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-6.772e+00;DP=1060;ExcessHet=0.0000;FS=137.370;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=1.10;ReadPosRankSum=3.45;SOR=6.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:293,32:325:99:0|1:53015435_GCCCTCCCC_G:371,0,12182:53015435	20	0	1	0
chr19	53140705	53140705	G	A	exonic	ZNF347	.	nonsynonymous SNV	ZNF347:NM_001172674:exon5:c.C2126T:p.P709L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	1.0	D	1.0	D	.	.	0.917	D	2.025	M	2.3	T	-0.999	T	0.082	T	0.298	2.680	14.92	0.711	0.138	3.401	4.511	0.181	0.00535265129578	7.7e-05	.	8.268e-06	0	0	0	0	0	0	6.149e-05	1.29e-05	2	154602	rs138184868	2.189e-05	2.189e-05	2.042e-05	2.338e-05	2.518e-05	1.584e-05	1.356e-05	1.746e-05	1.503e-05	0	2.236e-05	0	0	0	0	2.518e-05	3.312e-05	1.16e-05	3.947e-05	3.939e-05	5.146e-05	2.692e-05	7.353e-05	1.717e-05	1.131e-05	2.847e-05	1.859e-05	0	0	0	0	0	0	0	7.353e-05	0.0005	0	0.022	0.48642	D	0.0	0.92824	D	0.994	0.66517	D	0.896	0.63555	P	.	.	.	.	0.916754	0.36561	D	2.085	0.57729	M	2.3	0.16953	T	-8.89	0.97928	D	0.207	0.22998	-0.9992	0.30143	T	0.082	0.32324	T	9	0.20598385	0.36844	T	0.005353	0.13710	T	0.181	0.45247	.	.	0.376393476264	0.37247	0.02920529315599142	0.02869	0.0894441029174	0.10108	0.342619419098	0.16830	T	0.261658	0.63316	T	-0.292887	0.09349	T	-0.502123	0.22128	T	0.488520496251002	0.32210	T	0.425957	0.11436	T	0.18451023	0.39769	0.17284301	0.39568	0.18451023	0.39769	0.17284301	0.39567	-7.57	0.58318	D	.	.	0.719	0.73763	P	.;.;.	.;.;.	2.432537	0.31299	18.70	0.98238329508226552	0.39458	0.57496	0.30392	D	AEFBHCI	0.183166	0.31050	N	-0.173524547874484	0.34241	1.951963	-0.398781912035798	0.25034	1.374308	4.56749578674965E-5	0.03989	0.651	0.46895	0	0.670034	0.63936	0	0.65145	0.50148	0	0.567892	0.33627	0	.	.	3.03	0.711	0.17319	1.297000	0.33005	.	.	0.347000	0.19874	0.035000	0.20724	0.000000	0.08366	0.802000	0.37819	0.219:0.1857:0.5954:0.0	4.511	0.11318	994	0.00715	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	2822.98	33	chr19	53140705	.	G	A	2822.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.871e+00;DP=1023;ExcessHet=0.0000;FS=3.290;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.78;ReadPosRankSum=-2.440e-01;SOR=0.501	GT:AD:DP:GQ:PL	0/1:84,107:191:99:2837,0,2447	20	0	1	0
chr19	54276000	54276000	G	A	exonic	LILRB2	.	nonsynonymous SNV	LILRB2:NM_001278404:exon12:c.C1253T:p.A418V	.	.	9	1508	5	0	0	5	0.00165508	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.996	D	.	.	1.000	N	2.55	M	6.72	T	-0.969	T	0.007	T	0.391	3.654	18.58	1.82	1.387	0.015	7.276	0.114	0.00407043383268	0.0002	0.000199681	0.0002	0	8.64e-05	0	0.0002	0.0003	0.0011	0.0002	0.0001876	29	154602	rs199590986	0.0002	0.0002	0.0002	0.0002	0.0009	0.0001	0.0001	0.0003	0.0002	5.974e-05	0.0001	0.0002	0	5.617e-05	0.0009	0.0002	0.0002	0.0002	9.845e-05	9.842e-05	0.0001	6.711e-05	0.0004	6e-05	4.874e-05	7.282e-05	5.087e-05	2.404e-05	0	0	0	0	9.416e-05	0.0034	0.0001	0.0005	0.0004	0.001	0.78490	D	0.098	0.39040	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	6.72	0.00542	T	-2.1	0.47852	N	0.198	0.24883	-0.9691	0.37386	T	0.007	0.02439	T	9	0.08686784	0.14808	T	0.00407	0.09712	T	0.114	0.32008	.	.	0.366085729538	0.36220	0.13430764595650893	0.13354	0.303414013437	0.32666	0.483187556267	0.36495	T	.	.	.	-0.345778	0.04997	T	-0.438271	0.29002	T	0.276568174362183	0.24026	T	0.768923	0.39853	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.32992	B	.;.;.;.	.;.;.;.	1.665127	0.21236	15.11	0.99837296891693572	0.91800	0.02962	0.07799	N	AEFDBI	0.029279	0.02734	N	0.0405269444061844	0.43708	2.658473	-0.182166606925574	0.32191	1.829058	0.800054526566993	0.24170	0.623552	0.39893	0	0.659912	0.62753	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	1.82	1.82	0.24209	-0.378000	0.07503	.	.	-0.311000	0.06080	0.000000	0.06391	0.000000	0.08366	0.289000	0.24236	0.0:0.0:1.0:0.0	7.276	0.25458	994	0.00715	.;.;.;.	.	.	.	.	.	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	1264.98	110	chr19	54276000	.	G	A	1264.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.892;DP=892;ExcessHet=0.0000;FS=0.761;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.85;MQRankSum=0.00;QD=12.28;ReadPosRankSum=-9.670e-01;SOR=0.850	GT:AD:DP:GQ:PL	0/1:53,50:103:99:1279,0,1278	20	0	1	0
chr19	54337555	54337555	C	T	exonic	LILRA4	.	nonsynonymous SNV	LILRA4:NM_012276:exon5:c.G797A:p.R266H,	.	.	1	1505	16	0	0	16	0.00528751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.47	T	0.006	B	0.022	B	0.034	N	1.000	N	1.445	L	2.64	T	-1.011	T	0.019	T	0.047	-1.661	0.012	-5.02	-2.651	-2.350	3.001	0.024	0.00273979845203	0.0044	0.00139776	0.0038	0.0003	0.0017	0.0006	0.0012	0.0063	0.0023	0.0004	0.0037451	579	154602	rs145556773	0.0049	0.0049	0.0051	0.0047	0.0082	0.0048	0.0048	0.0063	0.0057	0.0014	0.0028	0.0013	0.0005	0.0006	0.0082	0.0059	0.0046	0.0005	0.0034	0.0034	0.0036	0.0032	0.0062	0.0032	0.0031	0.0057	0.0055	0.0009	0	0.0027	0.0003	0.0002	0.0005	0.0034	0.0062	0.0052	0.0006	0.602	0.05601	T	0.404	0.14818	T	.	.	.	.	.	.	0.033919	0.01778	N	2.356960	1	0.08975	N	.	.	.	2.64	0.12780	T	-2.34	0.51811	N	0.084	0.06059	-1.0106	0.26729	T	0.019	0.07986	T	10	0.0053166747	0.00117	T	0.00274	0.05665	T	0.024	0.04979	.	.	0.0611884634855	0.05136	0.1450600283523566	0.14429	0.0976345983673	0.11022	0.295019179583	0.09661	T	.	.	.	-0.746989	0.00019	T	-0.843163	0.01052	T	0.00269266171112516	0.00028	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.06525	B	.	.	0.066364	0.04760	1.381	0.83224066546743725	0.14609	0.00200	0.01150	N	AEFDBI	0.022727	0.01174	N	-1.61876957896486	0.01174	0.05101595	-1.7797284822483	0.00826	0.03689805	0.154342603501666	0.17492	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	2.51	-5.02	0.02759	-1.171000	0.03223	.	.	-2.023000	0.00434	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1276:0.1549:0.1272:0.5903	3.001	0.05649	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	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	1611.98	67	chr19	54337555	.	C	T	1611.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.461;DP=1555;ExcessHet=0.0000;FS=0.683;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=1.37;SOR=0.720	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1626,0,1149	20	0	1	0
chr19	54436117	54436117	G	A	exonic	TTYH1	.	nonsynonymous SNV	TTYH1:NM_001005367:exon12:c.G1295A:p.S432N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.58	T	0.089	B	0.035	B	0.276	N	1.000	D	.	.	2.72	T	-1.017	T	0.020	T	0.293	3.460	17.72	4.38	2.151	3.201	8.633	0.052	0.0200780745166	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1156431490	2.736e-06	2.736e-06	4.084e-06	1.375e-06	2.519e-05	6.4e-07	4.3e-07	.	.	0	0	0	2.519e-05	0	0	0	4.967e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.0	0.92824	D	0.089	0.25085	B	0.035	0.22741	B	0.276482	0.15027	N	0.639053	0.605781	0.81001	D	.	.	.	2.72	0.11947	T	-0.36	0.13035	N	0.261	0.29544	-1.0170	0.24690	T	0.020	0.08220	T	9	0.11270404	0.21148	T	0.020078	0.42598	T	0.052	0.14661	0.291	0.25241	0.043077524339	0.03247	0.5120270155747371	0.51124	0.603066613785	0.55293	0.606552064419	0.53829	T	.	.	.	-0.264379	0.12392	T	-0.520685	0.20226	T	0.819581151008606	0.47741	D	.	.	.	.	.	.	.	.	.	.	.	-5.751	0.44145	T	.	.	0.134	0.29144	B	.	.	1.226105	0.16205	12.39	0.99607075411116064	0.74575	0.80642	0.40227	D	AEFDBCI	0.179554	0.30685	N	-0.125064444972904	0.36302	2.096616	0.0210182149133021	0.40692	2.432593	0.996208395829484	0.34592	0.741868	0.97996	0	0.550933	0.16991	0	0.774882	0.98623	0	0.664235	0.64389	0	.	.	4.38	4.38	0.52019	1.287000	0.32889	.	.	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1064:0.0:0.8936:0.0	8.633	0.33094	988	0.01987	.	.	.	.	.	.	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	2361.98	35	chr19	54436117	.	G	A	2361.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.090;DP=1016;ExcessHet=0.0000;FS=1.163;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=59.98;MQRankSum=-9.830e-01;QD=13.20;ReadPosRankSum=-1.307e+00;SOR=0.807	GT:AD:DP:GQ:PL	0/1:89,90:179:99:2376,0,2292	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|1:292,121,0:413:99:0|1:54633108_T_G:4202,0,11798,5081,12162,17243:54633108	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	0/1:416,78:494:99:826,0,12368	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	0/1:240,121,0:361:99:2710,0,8417,3432,8780,12212	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	0/1:203,110:313:99:2381,0,5706	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	0/1:267,107:374:99:3005,0,7428	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	0/1:268,110:378:99:.:.:3771,0,10865	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|1:271,69:340:99:0|1:54752482_T_C:2061,0,11141:54752482	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|1:251,37:288:99:0|1:54752511_G_A:798,0,10257:54752511	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|1:274,48:322:99:0|1:54760643_A_G:1191,0,11208:54760643	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|1:274,50:324:99:0|1:54760643_A_G:1275,0,11314:54760643	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|1:277,58:335:99:0|1:54760643_A_G:1602,0,11457:54760643	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|1:269,59:328:99:0|1:54760643_A_G:1668,0,11118:54760643	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|1:267,59:326:99:0|1:54760643_A_G:1674,0,11013:54760643	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|1:262,59:321:99:0|1:54760643_A_G:1689,0,10783:54760643	7	0	14	0
chr19	54767353	54767353	A	0	exonic	KIR2DL1;LOC112267881	.	.	.	.	.	444	526	404	111	37	663	0.373063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	59730.09	38	chr19	54767353	.	A	C,*	59730.09	.	AC=13,2;AF=0.310,0.048;AN=42;BaseQRankSum=-1.860e+00;DP=4843;ExcessHet=0.1361;FS=0.529;InbreedingCoeff=0.2741;MLEAC=13,2;MLEAF=0.310,0.048;MQ=58.91;MQRankSum=0.00;QD=14.36;ReadPosRankSum=0.166;SOR=0.739	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,499,0:499:99:.:.:14570,1496,0,15692,1534,18751	10	4	5	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	0/1:234,29:263:99:113,0,9378	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	0/1:585,85:670:99:.:.:910,0,23006	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	0/1:721,91:812:99:1492,0,22077	12	0	9	0
chr19	54775321	54775321	A	G	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.A527G:p.K176R	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.0	B	0.001	B	.	.	1.000	N	-0.105	N	1.98	T	-1.002	T	0.021	T	0.246	-0.452	1.906	-0.528	0.045	0.507	3.540	0.018	.	.	0.0285543	.	.	.	.	.	.	.	.	0.0054941	143	26028	rs551912555	8.066e-07	3.135e-06	0	1.627e-06	1.358e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.358e-05	0	9.404e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.002	0.72154	D	0.991	0.02359	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.98	0.21865	T	-0.69	0.19933	N	0.037	0.01135	-1.0019	0.29372	T	0.021	0.09101	T	9	0.004271269	0.00086	T	.	.	.	0.018	0.03083	.	.	0.159798565429	0.15598	0.019697881130799132	0.01922	0.286032070692	0.31010	0.328735619783	0.14742	T	0.004251	0.03660	T	-0.268425	0.11932	T	-0.62335	0.10925	T	0.097581160795981	0.12089	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04159	B	.;.	.;.	0.196263	0.05818	2.258	0.65962790167702579	0.07922	0.00008	0.00134	N	AEFBI	0.015820	0.00321	N	-1.50332710389849	0.01828	0.08013823	-1.56523357978012	0.01873	0.08537886	1.69642889776649E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.528	0.11310	0.180000	0.16672	.	.	-1.221000	0.01338	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2906:0.0:0.7094:0.0	3.540	0.07364	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:631,11,65:707:99:0|1:54775321_A_*:830,2267,28730,0,25982,26239:54775321	14	0	1	0
chr19	54775321	54775321	A	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	828	43	0	229	272	0.025309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1345.52	392	chr19	54775321	.	A	G,*	1345.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-5.880e-01;DP=7788;ExcessHet=2.5830;FS=0.000;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.42;MQRankSum=-5.177e+00;QD=0.44;ReadPosRankSum=-1.405e+00;SOR=0.793	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:631,11,65:707:99:0|1:54775321_A_*:830,2267,28730,0,25982,26239:54775321	14	0	1	0
chr19	54775322	54775322	G	C	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	nonsynonymous SNV	LOC112267881:NM_001368251:exon4:c.G528C:p.K176N	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.375	B	0.035	B	.	.	1.000	N	1.405	L	1.96	T	-1.032	T	0.034	T	0.215	0.284	5.538	-0.175	0.019	-1.768	4.925	0.019	.	.	0.0201677	.	.	.	.	.	.	.	.	0.0038804	101	26028	rs142432377	2.414e-06	7.05e-06	0	4.87e-06	4.068e-05	6.4e-07	1.8e-07	1.08e-05	5e-06	0	0	0	0	0	0	0	0	4.068e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.226	0.26467	T	0.375	0.34209	B	0.035	0.22741	B	.	.	.	.	1	0.08975	N	.	.	.	1.96	0.22270	T	-0.52	0.16187	N	0.087	0.12484	-1.0322	0.19745	T	0.034	0.14509	T	9	0.004861355	0.00104	T	.	.	.	0.019	0.03383	0.372	0.38340	0.227934060464	0.22382	0.025502537409497105	0.02501	0.404161105383	0.41326	0.335895627737	0.15823	T	0.004204	0.03611	T	-0.284357	0.10210	T	-0.646235	0.09220	T	0.0611866430199818	0.07353	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.173	0.42052	B	.;.	.;.	-0.534999	0.01758	0.133	0.94203204982077993	0.24439	0.00039	0.00329	N	AEFBI	0.018778	0.00597	N	-1.06418851789445	0.07312	0.3392801	-1.222503267997	0.05550	0.2647508	1.6514964015941E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.1	-0.175	0.12662	-4.523000	0.00254	.	.	-2.710000	0.00207	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5946:0.4054:0.0	4.925	0.13239	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:633,11,65:709:99:0|1:54775321_A_*:824,2268,28814,0,26041,26290:54775321	14	0	1	0
chr19	54775322	54775322	G	0	exonic	KIR2DL1;KIR2DS1;KIR2DS5;LOC112267881	.	.	.	.	.	422	827	45	0	228	273	0.0264862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1387.52	392	chr19	54775322	.	G	C,*	1387.52	.	AC=1,6;AF=0.024,0.143;AN=42;BaseQRankSum=-6.000e-02;DP=7783;ExcessHet=2.5830;FS=0.681;InbreedingCoeff=-0.2000;MLEAC=1,6;MLEAF=0.024,0.143;MQ=56.43;MQRankSum=-5.198e+00;QD=0.45;ReadPosRankSum=-1.555e+00;SOR=0.803	GT:AD:DP:GQ:PGT:PID:PL:PS	0|2:633,11,65:709:99:0|1:54775321_A_*:824,2268,28814,0,26041,26290:54775321	14	0	1	0
chr19	54804844	54804844	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A128G:p.Q43R	.	.	401	1030	89	2	0	93	0.0431955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.006	B	0.024	B	0.135	U	1.000	N	0.395	N	2.65	T	-1.000	T	0.021	T	0.122	-0.252	2.787	-1.57	-0.635	-1.621	2.076	0.004	0.00113660302036	.	.	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs867586202	1.369e-06	2.737e-06	0	2.752e-06	2.995e-05	2.3e-07	9e-08	.	.	2.995e-05	0	0	0	0	0	0	0	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.23997	T	0.596	0.08052	T	0.005	0.12996	B	0.004	0.14941	B	0.135009	0.02839	U	2.391850	1	0.08975	N	0.575	0.15311	N	2.65	0.12676	T	-1.42	0.38540	N	0.098	0.10769	-1.0000	0.29917	T	0.021	0.08778	T	10	0.07379338	0.11196	T	0.001137	0.01410	T	0.004	0.00165	.	.	0.117191471859	0.11215	0.2764269249833639	0.27555	1.63837144597	0.89330	.	.	.	.	.	.	-0.375957	0.03303	T	-0.777812	0.02520	T	0.0943192406486319	0.11720	T	.	.	.	.	.	.	.	.	.	.	.	-6.927	0.54645	T	.	.	0.067	0.04002	B	.;.;.;.	.;.;.;.	-1.101816	0.00638	0.017	0.44240031913180755	0.03387	0.00284	0.01530	N	AEFDBI	0.054807	0.09996	N	-1.5917883983119	0.01306	0.05686907	-1.68956066485271	0.01184	0.05329264	2.77527207762171E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.14	-1.57	0.08055	-2.911000	0.00765	.	.	-4.062000	0.00044	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.404:0.3002:0.0:0.2958	2.076	0.03404	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	0.119	513.42	37	chr19	54804844	.	A	G	513.42	.	AC=5;AF=0.119;AN=42;BaseQRankSum=-5.090e-01;DP=1526;ExcessHet=1.1607;FS=2.426;InbreedingCoeff=-0.1348;MLEAC=5;MLEAF=0.119;MQ=59.00;MQRankSum=-1.152e+01;QD=0.68;ReadPosRankSum=-8.850e-01;SOR=1.158	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,14:170:99:0|1:54804844_A_G:118,0,6378:54804844	16	0	5	0
chr19	54804865	54804865	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G149T:p.R50L	.	.	399	1022	98	3	0	104	0.0484171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.14	T	0.018	B	0.055	B	0.007	U	1.000	N	0.995	L	2.62	T	-0.999	T	0.029	T	0.188	0.031	4.173	-2.81	-1.080	-0.485	5.745	0.028	0.0010606096064	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs377230503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.578e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.129	0.26852	T	0.099	0.43344	T	0.001	0.17573	B	0.009	0.25828	B	0.006549	0.01130	U	4.963860	1	0.08975	N	0.87	0.21467	L	2.62	0.12988	T	-3.67	0.70553	D	0.243	0.32259	-0.9992	0.30143	T	0.029	0.12453	T	10	0.2224595	0.38999	T	0.001061	0.01215	T	0.028	0.06331	.	.	0.110392049598	0.10638	0.28005680441547837	0.27918	1.86795582778	0.92482	.	.	.	.	.	.	-0.326378	0.06390	T	-0.706596	0.05473	T	0.0639145414373501	0.07769	T	.	.	.	.	.	.	.	.	.	.	.	-8.044	0.61370	D	.	.	0.138	0.32756	B	.;.;.;.	.;.;.;.	0.035535	0.04534	1.227	0.73877348709050461	0.10488	0.00388	0.01954	N	AEFDBI	0.065265	0.12721	N	-1.54790257383302	0.01547	0.06756762	-1.67935926748713	0.01231	0.05548239	8.43516041031511E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.41	-2.81	0.05459	-0.685000	0.05269	.	.	-3.641000	0.00069	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6012:0.0:0.3988:0.0	5.745	0.17382	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	0.1429	719.03	37	chr19	54804865	.	G	T	719.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.45;DP=1630;ExcessHet=1.7912;FS=7.115;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.85;MQRankSum=-1.237e+01;QD=0.67;ReadPosRankSum=1.33;SOR=1.603	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,17:196:99:0|1:54804844_A_G:175,0,7465:54804844	15	0	6	0
chr19	54804871	54804871	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A155G:p.H52R	.	.	410	1016	93	3	0	99	0.0464571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.64	T	0.016	B	0.014	B	.	.	1.000	N	-0.165	N	2.75	T	-0.922	T	0.011	T	0.325	-2.184	0.005	1.42	0.897	-0.253	4.935	0.050	0.000703869014878	.	.	.	.	.	.	.	.	.	.	.	.	.	rs752329065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.314e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.992	0.03949	T	0.621	0.07419	T	0.003	0.12996	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.17	0.09006	N	2.75	0.11622	T	-3.37	0.67477	D	0.076	0.06059	-0.9219	0.45293	T	0.011	0.04321	T	9	0.061050594	0.07594	T	7.04E-4	0.00435	T	0.050	0.13987	.	.	0.305252298933	0.30134	0.14574877287000448	0.14497	1.80914359211	0.91782	.	.	.	.	.	.	-0.282495	0.10405	T	-0.643561	0.09412	T	0.0325404564850766	0.02395	T	.	.	.	.	.	.	.	.	.	.	.	-6.886	0.53196	T	.	.	0.100	0.18746	B	.;.;.;.	.;.;.;.	0.039253	0.04558	1.245	0.55635480641941515	0.05383	0.00516	0.02410	N	AEFDBI	0.041908	0.06434	N	-1.27066159650474	0.04033	0.1813008	-1.2984096394167	0.04452	0.2100502	3.65028250344946E-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	1.42	0.21524	-0.504000	0.06456	.	.	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	1.0:0.0:0.0:0.0	4.935	0.13288	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	0.1429	605.02	37	chr19	54804871	.	A	G	605.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=0.129;DP=1668;ExcessHet=1.7912;FS=5.545;InbreedingCoeff=-0.1665;MLEAC=6;MLEAF=0.143;MQ=58.89;MQRankSum=-1.263e+01;QD=0.54;ReadPosRankSum=1.81;SOR=1.658	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:187,17:204:99:0|1:54804844_A_G:151,0,7801:54804844	15	0	6	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	0/1:94,93,17:204:99:.:.:2576,0,2474,2341,2269,7224	8	1	9	0
chr19	54804880	54804880	G	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G164T:p.R55L	.	.	409	1018	92	3	0	98	0.0459231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.63	T	0.001	B	0.003	B	0.331	N	1.000	N	-0.67	N	5.87	T	-0.912	T	0.001	T	0.153	-2.839	0	-2.83	-4.059	-2.987	0.680	0.011	0.000590234751616	.	.	.	.	.	.	.	.	.	.	.	.	.	rs200970576	6.845e-07	2.052e-06	1.362e-06	0	8.995e-07	0	0	.	.	0	0	0	0	0	0	8.995e-07	0	0	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.707	0.14075	T	0.0	0.02946	B	0.003	0.08700	B	0.330964	0.04130	N	1.871750	1	0.08975	N	-0.59	0.02258	N	2.55	0.13795	T	-5.64	0.86914	D	0.096	0.07673	-0.9120	0.46607	T	0.001	0.00408	T	10	0.036497056	0.01952	T	5.9E-4	0.00260	T	0.011	0.01250	.	.	0.043077524339	0.03247	0.18736213989536712	0.18654	1.8200784132	0.91936	.	.	.	.	.	.	-0.317922	0.07070	T	-0.69445	0.06134	T	0.176434934139252	0.19007	T	.	.	.	.	.	.	.	.	.	.	.	-3.794	0.20715	T	.	.	0.105	0.22391	B	.;.;.;.	.;.;.;.	-2.096588	0.00081	0.001	0.52377389892480175	0.04736	0.00034	0.00302	N	AEFDBI	0.026426	0.01982	N	-2.4206702032517	0.00024	0.001049992	-2.48006166947468	0.00026	0.001135847	0.181087630750471	0.17872	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	-4.363000	0.00281	.	.	-4.734000	0.00021	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3206:0.1414:0.3286:0.2094	0.680	0.00818	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	0.119	464.49	37	chr19	54804880	.	G	T	464.49	.	AC=5;AF=0.119;AN=42;BaseQRankSum=2.66;DP=2756;ExcessHet=1.1607;FS=5.535;InbreedingCoeff=-0.1357;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.298e+01;QD=0.50;ReadPosRankSum=2.90;SOR=1.647	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:194,17:211:99:0|1:54804844_A_G:130,0,8095:54804844	16	0	5	0
chr19	54804889	54804889	A	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A173C:p.N58T	.	.	410	1009	100	3	0	106	0.0499058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.15	T	0.001	B	0.005	B	0.568	U	1.000	N	0.865	L	2.81	T	-0.967	T	0.015	T	0.067	-0.363	2.287	-2.83	-1.188	-0.877	0.111	0.083	0.00160012747995	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1252008475	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.28	0.17643	T	0.421	0.18395	T	0.0	0.02946	B	0.004	0.10090	B	0.568075	0.11267	U	0.710467	1	0.08975	N	1.085	0.27262	L	2.81	0.10975	T	-1.31	0.33798	N	0.161	0.16864	-0.9669	0.37834	T	0.015	0.06090	T	10	0.07299557	0.10970	T	0.002	0.02574	T	0.083	0.24192	.	.	0.168254554758	0.16434	0.1070846243563384	0.10638	1.5630790888	0.88064	.	.	.	.	.	.	-0.408466	0.02035	T	-0.824509	0.01363	T	0.146632224321365	0.16832	T	.	.	.	.	.	.	.	.	.	.	.	-6.799	0.52552	T	.	.	0.159	0.35849	B	.;.;.;.	.;.;.;.	-0.436821	0.02079	0.193	0.48969850087904854	0.04130	0.00254	0.01397	N	AEFDBI	0.042854	0.06702	N	-1.61109278381861	0.01210	0.05261721	-1.73396012362405	0.00995	0.04459112	9.2797908283636E-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	-1.660000	0.02075	.	.	-3.494000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3389:0.242:0.1805:0.2386	0.111	0.00052	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	0.119	446.36	37	chr19	54804889	.	A	C	446.36	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.433;DP=2783;ExcessHet=1.1607;FS=5.552;InbreedingCoeff=-0.1320;MLEAC=5;MLEAF=0.119;MQ=58.94;MQRankSum=-1.310e+01;QD=0.47;ReadPosRankSum=3.56;SOR=1.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,17:212:99:0|1:54804844_A_G:127,0,8137:54804844	16	0	5	0
chr19	54804898	54804898	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C182G:p.T61R	.	.	407	1007	105	3	0	111	0.0522353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	D	0.879	P	0.624	P	0.370	N	1.000	N	0.82	L	2.61	T	-1.047	T	0.034	T	0.121	-1.268	0.045	-2.83	-2.561	-4.420	4.699	0.004	0.000577800184532	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1347429978	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	0.156	0.30235	T	0.417	0.14241	T	0.008	0.14655	B	0.014	0.16862	B	0.370126	0.04357	N	1.761550	1	0.08975	N	0.19	0.09125	N	2.61	0.13095	T	-0.99	0.33798	N	0.166	0.17553	-1.0466	0.15361	T	0.034	0.14726	T	10	0.06646973	0.09122	T	5.78E-4	0.00246	T	0.004	0.00165	.	.	0.123314135267	0.11883	0.2663305671272793	0.26546	1.74321032565	0.90897	.	.	.	.	.	.	-0.374164	0.03389	T	-0.775237	0.02600	T	0.172755304063972	0.18765	T	.	.	.	.	.	.	.	.	.	.	.	-4.633	0.32583	T	.	.	0.133	0.28807	B	.;.;.;.	.;.;.;.	-1.551279	0.00265	0.004	0.59469541163751893	0.06232	0.00075	0.00520	N	AEFDBI	0.026301	0.01950	N	-1.68316153543223	0.00903	0.03908699	-1.84995237698743	0.00612	0.0271986	3.44450744240821E-4	0.06626	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	-5.169000	0.00171	.	.	-4.106000	0.00042	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2563:0.3734:0.3703:0.0	4.699	0.12201	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	0.1429	783.55	37	chr19	54804898	.	C	G	783.55	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.74;DP=2825;ExcessHet=1.7912;FS=7.378;InbreedingCoeff=-0.1525;MLEAC=5;MLEAF=0.119;MQ=58.83;MQRankSum=-1.325e+01;QD=0.63;ReadPosRankSum=3.30;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:204,17:221:99:0|1:54804844_A_G:100,0,8515:54804844	15	0	6	0
chr19	54804909	54804909	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A193G:p.K65E	.	.	408	993	118	3	0	124	0.0587678	.	.	2687379	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	1	T	0.002	B	0.004	B	0.812	N	1.000	N	-2.29	N	6.0	T	-0.932	T	0.001	T	0.074	-2.172	0.005	-1.41	-0.207	0.049	3.979	0.028	0.000710582739585	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1433721372	2.738e-06	4.105e-06	0	5.504e-06	2.237e-05	6.4e-07	4.3e-07	3e-07	1.1e-07	0	2.237e-05	3.843e-05	0	0	0	1.799e-06	0	0	1.988e-05	4.605e-05	1.295e-05	2.717e-05	0.0001	5.29e-06	2.47e-06	2.279e-05	9.14e-06	0	0	0.0001	0	0	0	0	0	0.0005	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.812499	0.09241	N	0.855387	1	0.08975	N	-2.415	0.00072	N	6.0	0.00603	T	1.89	0.00694	N	0.066	0.07262	-0.9319	0.43859	T	0.001	0.00188	T	10	0.020792723	0.00485	T	7.11E-4	0.00454	T	0.028	0.06331	.	.	0.102598925029	0.09809	0.08210962773506171	0.08145	2.0043789819	0.93871	.	.	.	.	.	.	-0.398459	0.02370	T	-0.810135	0.01662	T	0.0787104400289306	0.09821	T	.	.	.	.	.	.	.	.	.	.	.	1.118	0.00118	T	.	.	0.052	0.01449	B	.;.;.;.	.;.;.;.	-0.896903	0.00931	0.035	0.38092024155450582	0.02549	0.00009	0.00143	N	AEFBI	0.020365	0.00798	N	-1.95943119732616	0.00258	0.01107597	-1.91051840260318	0.00467	0.02066344	2.13546506143977E-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	-1.41	0.08473	0.022000	0.13402	.	.	-1.236000	0.01320	0.005000	0.17040	0.000000	0.08366	0.000000	0.00833	0.4688:0.0:0.5312:0.0	3.979	0.08979	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	0.1429	1459.03	37	chr19	54804909	.	A	G	1459.03	.	AC=6;AF=0.143;AN=42;BaseQRankSum=2.63;DP=2839;ExcessHet=1.7912;FS=11.097;InbreedingCoeff=-0.1667;MLEAC=6;MLEAF=0.143;MQ=58.65;MQRankSum=-1.377e+01;QD=1.16;ReadPosRankSum=1.42;SOR=1.896	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:195,17:212:99:0|1:54804844_A_G:127,0,8137:54804844	15	0	6	0
chr19	54804943	54804943	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.G227A:p.R76K	.	.	415	972	132	3	0	138	0.0662824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.003	B	0.590	N	1.000	N	1.44	L	2.74	T	-0.969	T	0.025	T	0.171	-0.507	1.679	-2.83	-0.790	-3.738	0.540	0.022	0.000742101611331	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1258790404	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	3.948e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.706	0.15201	T	0.895	0.03223	T	0.0	0.02946	B	0.001	0.08700	B	0.590161	0.05587	N	1.384300	1	0.08975	N	1.445	0.36358	L	2.74	0.11730	T	-0.98	0.27259	N	0.051	0.07535	-0.9692	0.37366	T	0.025	0.10733	T	10	0.066293925	0.09070	T	7.42E-4	0.00510	T	0.022	0.04323	.	.	0.143184338766	0.13958	0.10200965388074774	0.10131	1.54987763219	0.87883	.	.	.	.	.	.	-0.328421	0.06231	T	-0.70953	0.05319	T	0.0564412906346426	0.06597	T	.	.	.	.	.	.	.	.	.	.	.	-7.075	0.54580	T	.	.	0.117	0.27968	B	.;.;.;.	.;.;.;.	-0.709399	0.01299	0.070	0.67373079492482224	0.08335	0.00141	0.00861	N	AEFBI	0.044050	0.07041	N	-1.32507690532281	0.03391	0.1513701	-1.48749976679391	0.02446	0.1125302	6.30285219020309E-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	-1.506000	0.02375	.	.	-0.368000	0.05462	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1859:0.238:0.3354:0.2407	0.540	0.00600	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	0.1429	2793.02	37	chr19	54804943	.	G	A	2793.02	.	AC=6;AF=0.143;AN=42;BaseQRankSum=1.64;DP=2966;ExcessHet=1.7912;FS=4.369;InbreedingCoeff=-0.1666;MLEAC=6;MLEAF=0.143;MQ=58.46;MQRankSum=-1.419e+01;QD=2.03;ReadPosRankSum=-1.957e+00;SOR=1.396	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,24:236:99:0|1:54804844_A_G:370,0,8830:54804844	15	0	6	0
chr19	54804956	54804956	C	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.C240G:p.N80K	.	.	414	957	149	2	0	153	0.0740203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	T	0.005	B	0.011	B	.	.	1.000	N	0.255	N	5.79	T	-0.943	T	0.002	T	0.052	-1.471	0.018	-2.83	-0.914	-2.611	4.378	0.003	0.000820155030123	.	.	3.423e-05	0.0003	0	0	0	0	0	0	.	.	.	rs762567496	6.845e-07	4.789e-06	1.362e-06	0	2.995e-05	0	0	.	.	2.995e-05	0	0	0	0	0	0	0	0	1.99e-05	0.0001	2.59e-05	1.36e-05	7.371e-05	5.29e-06	2.47e-06	1.954e-05	1.042e-05	7.371e-05	0	0	0	0	0	0	0	0	0	0.412	0.13699	T	0.845	0.05146	T	0.001	0.07471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	-0.44	0.02835	N	5.79	0.00674	T	-1.03	0.27052	N	0.095	0.07535	-0.9430	0.42137	T	0.002	0.00556	T	9	0.044601202	0.03435	T	8.2E-4	0.00670	T	0.003	0.00094	.	.	0.128874641272	0.12493	0.10159306631719821	0.10090	1.72089044569	0.90581	.	.	.	.	.	.	-0.575811	0.00204	T	-0.864535	0.00796	T	0.016738042965368	0.00430	T	.	.	.	.	.	.	.	.	.	.	.	-3.17	0.12117	T	.	.	0.179	0.45895	B	.;.;.;.	.;.;.;.	-1.083170	0.00661	0.018	0.50719520210572711	0.04434	0.00148	0.00897	N	AEFBI	0.040604	0.06062	N	-1.66740233317036	0.00964	0.04176982	-1.76943638965084	0.00862	0.03853214	7.24329605389925E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-3.415000	0.00532	.	.	-3.993000	0.00048	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2368:0.2927:0.4706:0.0	4.378	0.10712	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	0.1667	3332.55	37	chr19	54804956	.	C	G	3332.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=0.553;DP=3253;ExcessHet=2.5830;FS=4.420;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.57;MQRankSum=-1.550e+01;QD=1.97;ReadPosRankSum=-2.461e+00;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:219,23:242:99:0|1:54804844_A_G:307,0,9127:54804844	14	0	7	0
chr19	54804960	54804960	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T244A:p.F82I	.	.	414	959	147	2	0	151	0.0729821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.988	D	0.749	P	.	.	1.000	N	2.795	M	5.26	T	-1.036	T	0.009	T	0.293	1.165	9.742	-2.83	-1.100	0.423	0.084	0.125	0.00121079333076	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1369685826	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.131	0.27663	T	0.066	0.49942	T	0.835	0.57185	P	0.439	0.51840	B	.	.	.	.	1	0.08975	N	2.84	0.82582	M	5.26	0.01121	T	-4.07	0.74661	D	0.527	0.55626	-1.0358	0.18606	T	0.009	0.03140	T	9	0.26590294	0.44090	T	0.001211	0.01583	T	0.125	0.34456	.	.	0.184605227958	0.18053	0.26410585650973184	0.26323	2.55136621799	0.97893	.	.	.	.	.	.	-0.229695	0.16690	T	-0.567717	0.15659	T	0.301442474126816	0.25063	T	.	.	.	.	.	.	.	.	.	.	.	-10.577	0.77288	D	.	.	0.167	0.46813	B	.;.;.;.	.;.;.;.	1.636286	0.20887	14.96	0.92714287306157606	0.22209	0.01840	0.05702	N	AEFBI	0.038078	0.05336	N	-0.973329979841069	0.09176	0.4332079	-1.27610017222819	0.04756	0.2250723	8.7197982285104E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	0.236000	0.17745	.	.	-1.223000	0.01335	0.008000	0.17931	0.000000	0.08366	0.000000	0.00833	0.2444:0.1891:0.2473:0.3192	0.084	0.00031	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	0.1667	3498.55	37	chr19	54804960	.	T	A	3498.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-4.890e-01;DP=3264;ExcessHet=2.5830;FS=5.763;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.64;MQRankSum=-1.493e+01;QD=2.04;ReadPosRankSum=-2.172e+00;SOR=1.354	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:227,22:249:99:0|1:54804844_A_G:240,0,9465:54804844	14	0	7	0
chr19	54804968	54804968	T	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T252G:p.I84M	.	.	417	956	147	2	0	151	0.0731944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.16	T	0.687	P	0.812	P	.	.	1.000	N	-0.13	N	5.18	T	-0.933	T	0.004	T	0.218	-0.371	2.254	-2.83	-2.207	-1.190	4.771	0.045	0.000519273134144	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1325992067	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.437	0.14400	T	0.374	0.18395	T	0.42	0.35330	B	0.45	0.46092	P	.	.	.	.	1	0.08975	N	-0.585	0.02270	N	5.18	0.01178	T	1.07	0.01509	N	0.251	0.28381	-0.9332	0.43665	T	0.004	0.01435	T	9	0.07691896	0.12074	T	5.19E-4	0.00174	T	0.045	0.12272	.	.	0.117191471859	0.11215	0.08007400719172995	0.07942	1.80411115478	0.91699	.	.	.	.	.	.	-0.337573	0.05559	T	-0.722677	0.04667	T	0.127119965554841	0.15113	T	.	.	.	.	.	.	.	.	.	.	.	-6.241	0.49275	T	.	.	0.117	0.24666	B	.;.;.;.	.;.;.;.	-0.141825	0.03399	0.614	0.65607078407769726	0.07820	0.00065	0.00468	N	AEFBI	0.020411	0.00803	N	-1.5866963148947	0.01332	0.0580352	-1.74726134577514	0.00943	0.042239	1.02835550443145E-4	0.05123	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-1.147000	0.03298	.	.	-3.828000	0.00057	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.1793:0.4034:0.4173	4.771	0.12528	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	0.1667	3900.55	37	chr19	54804968	.	T	G	3900.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=1.04;DP=3302;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.402e+01;QD=2.23;ReadPosRankSum=-2.200e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:220,30:250:99:0|1:54804844_A_G:577,0,9127:54804844	14	0	7	0
chr19	54804969	54804969	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.A253G:p.S85G	.	.	417	954	149	2	0	153	0.0742358	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.004	B	.	.	1.000	N	-1.605	N	2.6	T	-0.984	T	0.007	T	0.077	-2.734	0	-2.83	-1.548	-0.075	7.112	0.027	0.000781134784742	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1442335978	0	4.105e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.003	0.11197	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-1.715	0.00343	N	2.6	0.13204	T	2.66	0.00310	N	0.108	0.09349	-0.9842	0.34022	T	0.007	0.02439	T	9	0.02619794	0.00792	T	7.81E-4	0.00588	T	0.027	0.05988	.	.	0.158540857583	0.15491	0.07738362904380575	0.07674	1.4201359302	0.85604	.	.	.	.	.	.	-0.401399	0.02267	T	-0.814358	0.01570	T	0.0549007298840621	0.06341	T	.	.	.	.	.	.	.	.	.	.	.	0.541	0.00210	T	.	.	0.074	0.05274	B	.;.;.;.	.;.;.;.	-0.420405	0.02138	0.205	0.22000706786361646	0.00865	0.00040	0.00335	N	AEFBI	0.020537	0.00821	N	-2.07894454137503	0.00142	0.006092453	-2.08140116520627	0.00204	0.009005726	2.05305321022085E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-0.375000	0.07532	.	.	-1.077000	0.01579	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4285:0.0:0.5715:0.0	7.112	0.24570	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	0.1667	3886.55	37	chr19	54804969	.	A	G	3886.55	.	AC=7;AF=0.167;AN=42;BaseQRankSum=-3.400e-01;DP=3301;ExcessHet=2.5830;FS=5.736;InbreedingCoeff=-0.2000;MLEAC=7;MLEAF=0.167;MQ=58.65;MQRankSum=-1.405e+01;QD=2.23;ReadPosRankSum=-2.321e+00;SOR=1.454	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:218,31:249:99:0|1:54804844_A_G:605,0,9040:54804844	14	0	7	0
chr19	54805015	54805015	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T299C:p.F100S	.	.	419	776	326	1	0	328	0.174468	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.008	B	0.008	B	.	.	1.000	N	-1.335	N	5.92	T	-0.965	T	0.001	T	0.053	-2.647	0	-2.83	-1.271	-4.121	6.440	0.013	0.0010106159629	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796753843	2.74e-06	0.0001	2.726e-06	2.755e-06	2.7e-06	6.4e-07	4.3e-07	7.2e-07	2e-07	0	0	0	0	1.885e-05	0	2.7e-06	0	0	5.341e-05	0.0027	7.827e-05	2.735e-05	0.0002	2.593e-05	1.856e-05	1.985e-05	1.133e-05	4.936e-05	0	6.628e-05	0	0	0	0	5.938e-05	0	0.0002	1.0	0.00964	T	0.435	0.14369	T	0.007	0.14184	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.315	0.00701	N	5.92	0.00621	T	2.62	0.00266	N	0.075	0.04913	-0.9650	0.38210	T	0.001	0.00287	T	9	0.026813924	0.00840	T	0.001011	0.01096	T	0.013	0.01715	.	.	0.043077524339	0.03247	0.08146711258010714	0.08081	2.36001356848	0.96855	.	.	.	.	.	.	-0.43666	0.01353	T	-0.865008	0.00791	T	0.061946985667245	0.07471	T	.	.	.	.	.	.	.	.	.	.	.	1.914	0.00057	T	.	.	0.189	0.46085	B	.;.;.;.	.;.;.;.	-1.096354	0.00644	0.018	0.28837687520548816	0.01500	0.00083	0.00561	N	AEFDBI	0.025271	0.01704	N	-2.14306535979238	0.00103	0.00439903	-2.15844511365444	0.00139	0.006093682	1.25218217171751E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.83	0.05425	-6.340000	0.00086	.	.	-1.208000	0.01354	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.5038:0.0:0.4962	6.440	0.21047	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	8919.01	37	chr19	54805015	.	T	C	8919.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-3.270e-01;DP=3894;ExcessHet=4.7172;FS=2.661;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.185e+01;QD=3.49;ReadPosRankSum=0.485;SOR=1.069	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:235,57:292:99:0|1:54805010_A_G:1686,0,9671:54805010	12	0	9	0
chr19	54805016	54805016	T	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon3:c.T300A:p.F100L	.	.	420	774	327	1	0	329	0.17528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	0.542	P	0.333	B	.	.	1.000	N	1.725	L	5.83	T	-0.970	T	0.003	T	0.121	1.105	9.508	-2.7	-0.974	-0.428	2.255	0.023	0.000772524294317	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796792356	1.37e-06	0.0001	0	2.755e-06	8.999e-07	2.3e-07	9e-08	.	.	0	0	0	0	1.887e-05	0	8.999e-07	0	0	5.338e-05	0.0027	7.825e-05	2.733e-05	0.0002	2.592e-05	1.855e-05	1.985e-05	1.133e-05	4.936e-05	0	6.625e-05	0	0	0	0	5.936e-05	0	0.0002	0.022	0.48642	D	0.648	0.06903	T	0.397	0.34783	B	0.333	0.42166	B	.	.	.	.	1	0.08975	N	1.665	0.42610	L	5.83	0.00652	T	-1.05	0.29933	N	0.118	0.11769	-0.9697	0.37262	T	0.003	0.01059	T	9	0.07033512	0.10217	T	7.73E-4	0.00568	T	0.023	0.04649	.	.	0.043077524339	0.03247	0.06693528354683899	0.06631	1.94744629028	0.93356	.	.	.	.	.	.	-0.343146	0.05173	T	-0.730682	0.04297	T	0.170065227283001	0.18584	T	.	.	.	.	.	.	.	.	.	.	.	-3.333	0.14166	T	.	.	0.864	0.81864	P	.;.;.;.	.;.;.;.	0.844460	0.12165	8.711	0.72763699724305153	0.10087	0.00466	0.02241	N	AEFDBI	0.041762	0.06392	N	-1.34932054137565	0.03132	0.1394129	-1.54047774464294	0.02042	0.09334472	7.01667449997308E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.315538	0.05692	2	0.564101	0.26826	0	.	.	1.42	-2.7	0.05651	-1.755000	0.01913	.	.	-1.223000	0.01335	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.256:0.3803:0.0:0.3637	2.255	0.03803	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.	.	.	.	.	.	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	8818.01	37	chr19	54805016	.	T	A	8818.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-7.130e-01;DP=3903;ExcessHet=4.7172;FS=3.895;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=59.09;MQRankSum=-1.197e+01;QD=3.42;ReadPosRankSum=0.322;SOR=1.068	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:237,57:294:99:0|1:54805010_A_G:1680,0,9760:54805010	12	0	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|1:244,63:307:99:0|1:54805010_A_G:1881,0,10025:54805010	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|1:246,67:313:99:0|1:54805010_A_G:2003,0,9900:54805010	9	0	12	0
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|1:403,109:512:99:0|1:54806086_T_C:3364,0,16594:54806086	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|1:411,96:507:99:0|1:54806086_T_C:2794,0,16969:54806086	6	0	15	0
chr19	54806112	54806112	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A523G:p.N175D	.	.	414	926	180	2	0	184	0.0903733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03	D	0.012	B	0.024	B	0.006	U	1.000	N	0.765	N	2.53	T	-0.990	T	0.026	T	0.033	-0.167	3.186	-0.795	-0.445	-1.162	.	0.015	0.00143953544246	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs796888355	6.845e-07	4.105e-06	1.362e-06	0	1.164e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.164e-05	0	1.315e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.03	0.45393	D	0.337	0.18178	T	0.002	0.09854	B	0.007	0.12992	B	0.005772	0.01094	U	5.332710	1	0.08975	N	0.345	0.11182	N	2.53	0.14038	T	-2.93	0.61865	D	0.138	0.13626	-0.9903	0.32525	T	0.026	0.11220	T	9	0.087477654	0.14971	T	0.00144	0.02164	T	0.015	0.02232	.	.	0.220282294035	0.21616	0.006777662489737481	0.00644	1.71896696176	0.90540	.	.	.	.	.	.	-0.416589	0.01799	T	-0.836177	0.01158	T	0.0856821440474374	0.10698	T	.	.	.	.	.	.	.	.	.	.	.	-7.374	0.57236	T	.	.	0.120	0.29060	B	.;.;.;.;.;.	.;.;.;.;.;.	0.412746	0.07838	4.531	0.79727465880553572	0.12873	0.00046	0.00367	N	AEFDBI	0.025639	0.01789	N	-1.25407888021563	0.04246	0.1912621	-1.39176687369686	0.03339	0.1555523	1.44639492226876E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.427	-0.795	0.10364	-0.556000	0.06082	.	.	0.352000	0.19979	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	976	0.04745	Immunoglobulin|Immunoglobulin subtype;Immunoglobulin|Immunoglobulin subtype;.;.;.;Immunoglobulin	.	.	.	.	.	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	9512.01	292	chr19	54806112	.	A	G	9512.01	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-6.490e-01;DP=7263;ExcessHet=4.7172;FS=5.109;InbreedingCoeff=-0.2727;MLEAC=9;MLEAF=0.214;MQ=57.76;MQRankSum=-1.587e+01;QD=2.63;ReadPosRankSum=-2.764e+00;SOR=1.228	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:446,51:497:67:.:.:67,0,18096	12	0	9	0
chr19	54806161	54806161	A	G	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.A572G:p.E191G	.	.	416	1062	43	1	0	45	0.0207469	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.001	B	0.197	U	1.000	N	-3.25	N	6.83	T	-0.852	T	0.000	T	0.138	-2.560	0.003	-0.418	-0.115	0.169	3.278	0.125	0.00319016254727	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1482608476	1.369e-06	2.805e-05	0	2.752e-06	1.164e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	8.996e-07	0	1.164e-05	0	4.606e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.0	0.01387	B	0.197140	0.03293	U	2.244820	1	0.08975	N	-2.95	0.00016	N	6.83	0.00484	T	4.86	0.00044	N	0.172	0.19190	-0.8522	0.51816	T	0.000	0.00075	T	10	0.030806363	0.01209	T	0.00319	0.06996	T	0.125	0.34456	.	.	0.0675242888579	0.06100	0.08634734685735217	0.08568	1.74118563909	0.90866	.	.	.	.	.	.	-0.3614	0.04051	T	-0.756902	0.03225	T	0.0659469353070313	0.08069	T	.	.	.	.	.	.	.	.	.	.	.	1.576	0.00090	T	.	.	0.029	0.00020	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.208131	0.03048	0.471	0.28823449377494542	0.01499	0.00008	0.00134	N	AEFDBI	0.016221	0.00352	N	-2.10568283398864	0.00124	0.005325665	-2.01989730429939	0.00278	0.01226669	1.20238691917371E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.418	0.11728	0.692000	0.25161	.	.	-0.573000	0.04775	0.027000	0.20232	0.000000	0.08366	0.003000	0.05239	0.3266:0.0:0.6734:0.0	3.278	0.06497	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	0.09524	2204.92	292	chr19	54806161	.	A	G	2204.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.62;DP=3999;ExcessHet=0.6776;FS=20.520;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.03;MQRankSum=-1.615e+01;QD=1.78;ReadPosRankSum=2.51;SOR=3.014	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:343,33:376:99:0|1:54806086_T_C:353,0,14303:54806086	17	0	4	0
chr19	54806170	54806170	G	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G581C:p.R194T	.	.	417	1070	33	1	1	36	0.016092	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09	T	0.985	D	0.907	P	0.909	N	1.000	N	2.545	M	2.92	T	-1.056	T	0.069	T	0.505	1.229	9.983	0.728	0.685	1.181	4.805	0.086	0.00167460938054	.	.	.	.	.	.	.	.	.	.	.	.	.	rs903729815	0	1.505e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	4.607e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.068	0.35726	T	0.014	0.62352	D	0.843	0.60733	P	0.609	0.61644	P	0.908863	0.07403	N	1.076150	1	0.08975	N	2.435	0.70606	M	2.92	0.09915	T	-4.66	0.79482	D	0.251	0.41656	-1.0562	0.12724	T	0.069	0.28247	T	10	0.32319447	0.49660	T	0.001675	0.02753	T	0.086	0.25016	.	.	0.341886373756	0.33793	0.0825432362972079	0.08189	3.18632837919	0.99467	.	.	.	.	.	.	-0.182359	0.23386	T	-0.499722	0.22376	T	0.762926518917084	0.44021	D	.	.	.	.	.	.	.	.	.	.	.	-7.108	0.64010	T	.	.	0.181	0.51583	B	.;.;.;.;.;.	.;.;.;.;.;.	1.917375	0.24354	16.36	0.92977417747853819	0.22558	0.01550	0.05082	N	AEFDBI	0.044415	0.07142	N	-0.40202933579575	0.25397	1.378405	-0.700629391342907	0.16944	0.8987731	1.66932649274431E-5	0.02871	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	0.728	0.17411	0.730000	0.25711	.	.	-1.575000	0.00928	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.0:0.0:1.0:0.0	4.805	0.12681	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	0.09524	2129.92	292	chr19	54806170	.	G	C	2129.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=5.00;DP=3969;ExcessHet=0.6776;FS=18.149;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=58.04;MQRankSum=-1.605e+01;QD=1.76;ReadPosRankSum=1.36;SOR=2.685	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:329,31:360:99:0|1:54806086_T_C:311,0,13721:54806086	17	0	4	0
chr19	54806184	54806184	T	C	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.T595C:p.F199L	.	.	418	1073	30	1	0	32	0.0146924	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22	T	0.254	B	0.094	B	0.006	N	1.000	N	1.09	L	5.85	T	-0.922	T	0.003	T	0.373	0.435	6.361	-0.617	-0.296	-2.050	2.752	0.052	0.00128745751053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1169726842	0	1.095e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	5.266e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.191	0.21066	T	0.247	0.26066	T	0.043	0.21573	B	0.027	0.21085	B	0.005759	0.01093	N	5.479650	1	0.08975	N	0.64	0.16041	N	5.85	0.00643	T	-3.62	0.69593	D	0.061	0.03502	-0.9217	0.45320	T	0.003	0.00929	T	10	0.099934906	0.18167	T	0.001287	0.01784	T	0.052	0.14661	.	.	0.290620346082	0.28682	0.02907533590376118	0.02856	2.04366087562	0.94286	.	.	.	.	.	.	-0.26258	0.12600	T	-0.614955	0.11585	T	0.0610753484070301	0.07336	T	.	.	.	.	.	.	.	.	.	.	.	-6.709	0.51878	T	.	.	0.675	0.82233	P	.;.;.;.;.;.	.;.;.;.;.;.	-0.166739	0.03264	0.556	0.74081094485100063	0.10563	0.00161	0.00961	N	AEFBI	0.035128	0.04469	N	-1.23634316811277	0.04483	0.2024168	-1.37910423948924	0.03475	0.1621945	1.81584576774125E-6	0.01202	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	0.728	-0.617	0.10999	-2.589000	0.00974	.	.	-3.015000	0.00138	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4179:0.0:0.0:0.5821	2.752	0.04959	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	0.09524	2620.92	292	chr19	54806184	.	T	C	2620.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=4.05;DP=3954;ExcessHet=0.6776;FS=11.646;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.87;MQRankSum=-1.562e+01;QD=2.19;ReadPosRankSum=-1.234e+00;SOR=2.027	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:322,35:357:99:0|1:54806086_T_C:500,0,13415:54806086	17	0	4	0
chr19	54806191	54806191	G	A	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.G602A:p.G201E	.	.	417	1081	23	1	0	25	0.0114312	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	T	0.047	B	0.024	B	0.001	N	1.000	N	-0.69	N	5.77	T	-0.841	T	0.002	T	0.074	-3.080	0.001	-1.46	-4.112	-4.698	3.815	0.009	0.000933240469926	.	.	.	.	.	.	.	.	.	.	.	.	.	rs751766410	2.739e-06	1.779e-05	2.725e-06	2.753e-06	6.004e-05	6.4e-07	4.3e-07	9.94e-06	3.72e-06	6.004e-05	0	0	0	0	0	0	0	2.329e-05	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.149	0.24758	T	0.989	0.03205	T	0.007	0.14184	B	0.017	0.18140	B	0.000834	0.00693	N	25.857100	1	0.08975	N	0.385	0.12166	N	5.77	0.00687	T	-0.11	0.09796	N	0.067	0.12198	-0.8412	0.52567	T	0.002	0.00526	T	10	0.035131097	0.01749	T	9.33E-4	0.00911	T	0.009	0.00846	.	.	0.043077524339	0.03247	0.014322109949426428	0.01389	1.91097436102	0.92909	.	.	.	.	.	.	-0.406241	0.02106	T	-0.821313	0.01426	T	0.152467426749554	0.17299	T	.	.	.	.	.	.	.	.	.	.	.	-5.575	0.45358	T	.	.	0.110	0.31330	B	.;.;.;.;.;.	.;.;.;.;.;.	-2.356574	0.00045	0.001	0.63035751494400261	0.07118	0.00046	0.00367	N	AEFBI	0.026834	0.02083	N	-2.40257893415306	0.00027	0.001151865	-2.47848935217197	0.00026	0.001144284	0.126168324027902	0.16994	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	-5.953000	0.00107	.	.	-2.820000	0.00180	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3698:0.2864:0.3438:0.0	3.815	0.08326	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	0.09524	2659.92	292	chr19	54806191	.	G	A	2659.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=1.46;DP=3941;ExcessHet=0.6776;FS=11.535;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=57.88;MQRankSum=-1.562e+01;QD=2.25;ReadPosRankSum=-2.584e+00;SOR=1.945	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:320,34:354:99:0|1:54806086_T_C:464,0,13334:54806086	17	0	4	0
chr19	54806230	54806230	C	T	exonic	KIR2DL4;LOC112268354	.	nonsynonymous SNV	KIR2DL4:NM_001080770:exon4:c.C641T:p.P214L	.	.	417	1092	12	1	0	14	0.00636943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.001	B	0.004	B	0.009	N	1.000	N	-0.09	N	2.72	T	-0.961	T	0.015	T	0.089	-2.764	0	-2.01	-3.596	-0.821	3.217	0.014	0.000816710685669	.	.	.	.	.	.	.	.	.	.	0.0009221	24	26028	rs373028201	1.371e-06	1.505e-05	1.364e-06	1.378e-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	0	3.949e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.30943	T	0.751	0.15406	T	0.0	0.02946	B	0.002	0.08700	B	0.008959	0.01224	N	6.106810	1	0.08975	N	-0.34	0.03507	N	2.72	0.11947	T	-2.22	0.56144	N	0.07	0.08227	-0.9609	0.39012	T	0.015	0.05801	T	10	0.024040222	0.00648	T	8.17E-4	0.00670	T	0.014	0.01968	.	.	0.0675242888579	0.06100	0.021072794982650286	0.02060	1.56403758506	0.88076	.	.	.	.	.	.	-0.392352	0.02598	T	-0.801363	0.01868	T	0.0486300559627527	0.05257	T	.	.	.	.	.	.	.	.	.	.	.	-1.357	0.29719	T	.	.	0.072	0.12181	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.620061	0.01518	0.097	0.48884289032456646	0.04116	0.00062	0.00453	N	AEFBI	0.019551	0.00689	N	-2.36564159368528	0.00032	0.001392303	-2.42714203885532	0.00034	0.001497015	0.00765305925471646	0.11515	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.01	-2.01	0.07003	-0.780000	0.04759	.	.	-3.486000	0.00081	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2225:0.3846:0.0:0.3929	3.217	0.06304	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	0.04762	526.23	65	chr19	54806230	.	C	T	526.23	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.38;DP=1660;ExcessHet=0.1072;FS=6.133;InbreedingCoeff=-0.0476;MLEAC=1;MLEAF=0.024;MQ=57.77;MQRankSum=-1.289e+01;QD=1.15;ReadPosRankSum=0.686;SOR=1.520	GT:AD:DP:GQ:PL	0/1:265,25:290:10:10,0,9161	19	0	2	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|1:258,88:346:99:0|1:54808838_C_T:2919,0,10528:54808838	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|1:270,107:377:99:0|1:54808838_C_T:3680,0,11011:54808838	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|1:268,108:376:99:0|1:54808838_C_T:3728,0,10924:54808838	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	0/1:267,128:395:99:4574,0,8132	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|1:249,36:285:99:0|1:54830166_G_C:762,0,10347:54830166	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|1:255,36:291:99:0|1:54830166_G_C:744,0,10599:54830166	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|1:254,36:290:99:0|1:54830166_G_C:747,0,10557:54830166	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|1:247,36:283:99:0|1:54830166_G_C:768,0,10263:54830166	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|1:251,36:287:99:0|1:54830166_G_C:756,0,10431:54830166	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|1:252,34:286:99:0|1:54830166_G_C:669,0,10479:54830166	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|1:241,31:272:99:0|1:54830166_G_C:576,0,10026:54830166	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|1:239,31:270:99:0|1:54830166_G_C:582,0,9942:54830166	14	0	6	1
chr19	54835088	54835088	T	G	exonic	KIR2DS4	.	nonsynonymous SNV	KIR2DS4:NM_001281971:exon2:c.T44G:p.L15W	.	.	436	1020	60	6	0	72	0.0340909	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	.	0.0015	0.0006	0.0005	0.0002	0.0020	0.0021	0.0035	0.0009	0.0008452	22	26028	rs200101952	0.0004	0.0030	0.0003	0.0005	0.0017	0.0003	0.0003	0.0014	0.0013	9.206e-05	0.0007	0.0004	0.0004	0.0011	0.0002	0.0002	0.0002	0.0017	0.0004	0.0042	0.0004	0.0004	0.0008	0.0003	0.0003	0.0004	0.0003	0.0002	0	0.0002	0.0006	0.0002	0.0006	0	0.0005	0.0021	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1657.68	38	chr19	54835088	.	T	G	1657.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=2.53;DP=2038;ExcessHet=0.3300;FS=2.369;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=56.00;MQRankSum=-7.490e+00;QD=5.23;ReadPosRankSum=-1.724e+00;SOR=0.841	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:108,13:121:99:.:.:202,0,3170	18	0	3	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	0/1:296,195,69:560:99:.:.:4214,0,8665,2909,7064,17834	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|1:294,95:389:99:0|1:54855608_TCTC_T:3104,0,12059:54855608	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|1:291,93:384:99:0|1:54855608_TCTC_T:3029,0,11916:54855608	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|1:321,54:375:99:0|1:54855666_CAG_C:1236,0,13259:54855666	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|1:320,54:374:99:0|1:54855666_CAG_C:1239,0,13237:54855666	14	0	7	0
chr19	54859084	54859084	C	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.C955T:p.P319S,	.	.	416	1029	76	1	0	78	0.0365169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.964	D	0.599	P	.	.	1.000	N	0.95	L	7.02	T	-0.867	T	0.001	T	0.044	-0.290	2.614	-0.604	-0.204	0.241	2.974	0.064	0.000624441967726	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.026e-05	1.231e-05	4.085e-06	1.651e-05	1.259e-05	6.16e-06	4.89e-06	7.31e-06	5.72e-06	0	0	0	0	0	0	1.259e-05	1.656e-05	0	6.572e-06	2.625e-05	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.089	0.32141	T	0.425	0.13912	T	0.886	0.48745	P	0.383	0.43945	B	.	.	.	.	1	0.08975	N	0.41	0.12415	N	7.02	0.00454	T	-2.97	0.61865	D	0.064	0.03613	-0.8674	0.50724	T	0.001	0.00467	T	9	0.09483707	0.16894	T	6.24E-4	0.00303	T	0.064	0.18567	0.248	0.18447	0.117506650769	0.11410	0.04836548424617068	0.04779	1.71135710155	0.90445	0.356161952019	0.18825	T	0.059672	0.31178	T	-0.393334	0.02559	T	-0.802774	0.01834	T	0.34234310394307	0.26717	T	.	.	.	0.039089512	0.05330	0.078269705	0.17516	0.039089512	0.05330	0.078269705	0.17516	-2.822	0.08388	T	.	.	0.088	0.11606	B	.	.	0.788312	0.11583	8.178	0.84617625941685071	0.15397	0.00022	0.00232	N	AEFGBI	0.014378	0.00226	N	-0.746472741392689	0.14729	0.7361992	-0.985325967743381	0.10114	0.5073769	0.00905559668788433	0.11788	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-0.604	0.11043	-0.027000	0.12319	.	.	-0.464000	0.05108	0.037000	0.20830	0.000000	0.08366	0.012000	0.09680	0.0:0.3552:0.0:0.6448	2.974	0.05570	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	0.09524	1957.92	34	chr19	54859084	.	C	T	1957.92	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.106e+00;DP=2332;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=44.36;MQRankSum=-6.845e+00;QD=1.26;ReadPosRankSum=-1.042e+00;SOR=0.662	GT:AD:DP:GQ:PL	0/1:334,51:385:99:1139,0,8632	17	0	4	0
chr19	54859097	54859098	GG	-	exonic	KIR3DL2	.	frameshift deletion	KIR3DL2:NM_006737:exon6:c.968_969del:p.W323Sfs*62,	.	.	418	1027	76	1	0	78	0.0365854	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859096	.	TGG	T	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.373e+00;DP=2349;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.43;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.420;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,51:385:99:0|1:54859096_TGG_T:1136,0,13846:54859096	17	0	4	0
chr19	54859099	54859099	-	AT	exonic	KIR3DL2	.	frameshift insertion	KIR3DL2:NM_006737:exon6:c.970_971insAT:p.P324Hfs*20,	.	.	419	1023	79	1	0	81	0.0380818	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	1875.88	34	chr19	54859099	.	C	CAT	1875.88	.	AC=4;AF=0.095;AN=42;BaseQRankSum=-2.465e+00;DP=2344;ExcessHet=0.6776;FS=0.000;InbreedingCoeff=-0.1053;MLEAC=4;MLEAF=0.095;MQ=43.29;MQRankSum=-6.131e+00;QD=1.19;ReadPosRankSum=0.484;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:334,51:385:99:0|1:54859096_TGG_T:1136,0,13846:54859096	17	0	4	0
chr19	54859126	54859126	T	A	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_006737:exon6:c.T997A:p.S333T,	.	.	422	1024	75	1	0	77	0.0362353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.002	B	0.011	B	.	.	1.000	N	-1.22	N	7.11	T	-0.954	T	0.000	T	0.046	-3.410	0.001	-1.7	-2.276	-2.170	0.066	0.058	0.000592853644405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.969e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	0.952	0.02603	T	0.002	0.09854	B	0.008	0.13708	B	.	.	.	.	1	0.08975	N	-1.145	0.00921	N	7.11	0.00444	T	1.51	0.00728	N	0.047	0.01911	-0.9540	0.40274	T	0.000	0.00114	T	9	0.020475209	0.00472	T	5.93E-4	0.00260	T	0.058	0.16647	0.251	0.18912	0.0482279557977	0.04254	0.03848246725599166	0.03794	1.5778815892	0.88350	0.446997404099	0.31534	T	0.001513	0.00960	T	-0.446873	0.01178	T	-0.879678	0.00656	T	0.0579299394948747	0.06839	T	.	.	.	0.035080478	0.04062	0.03344365	0.02239	0.035080478	0.04062	0.03344365	0.02239	-2.536	0.06032	T	.	.	0.060	0.00949	B	.	.	-0.849207	0.01014	0.042	0.38981453092339813	0.02662	0.00032	0.00291	N	AEFGBI	0.016009	0.00335	N	-2.17322769998613	0.00088	0.003762631	-2.19645317612939	0.00114	0.005011955	0.249042233931105	0.18659	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	0.851	-1.7	0.07721	-2.450000	0.01084	.	.	-2.250000	0.00337	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2879:0.2416:0.223:0.2475	0.066	0.00016	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	0.07143	1568.68	34	chr19	54859126	.	T	A	1568.68	.	AC=3;AF=0.071;AN=42;BaseQRankSum=-2.635e+00;DP=2070;ExcessHet=0.3300;FS=0.000;InbreedingCoeff=-0.0769;MLEAC=3;MLEAF=0.071;MQ=42.42;MQRankSum=-4.951e+00;QD=1.50;ReadPosRankSum=4.95;SOR=0.682	GT:AD:DP:GQ:PL	0/1:313,44:357:99:908,0,8295	18	0	3	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|1:146,82:228:99:0|1:54865794_T_C:3004,0,5884:54865794	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|1:164,88:252:99:0|1:54865794_T_C:3201,0,6621:54865794	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|1:173,90:263:99:0|1:54865794_T_C:3258,0,6993:54865794	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|1:174,90:264:99:0|1:54865794_T_C:3255,0,7035:54865794	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|1:175,92:267:99:0|1:54865794_T_C:3336,0,7071:54865794	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|1:177,91:268:99:0|1:54865794_T_C:3288,0,7158:54865794	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|1:173,89:262:99:0|1:54865794_T_C:3216,0,6996:54865794	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|1:172,87:259:99:0|1:54865794_T_C:3135,0,6960:54865794	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|1:166,87:253:99:0|1:54865794_T_C:3113,0,6659:54865794	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|1:223,66:289:99:0|1:54866416_T_C:2100,0,9142:54866416	7	0	14	0
chr19	54866533	54866533	A	T	exonic	KIR3DL2	.	nonsynonymous SNV	KIR3DL2:NM_001242867:exon8:c.A1119T:p.E373D	.	.	420	1022	80	0	0	80	0.0376648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.993	D	0.99	D	.	.	1.000	N	1.81	L	7.17	T	-0.887	T	0.003	T	0.119	0.708	7.775	-2.23	-0.191	0.244	3.962	0.049	0.000605757839165	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs372092512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.432	0.13634	T	0.989	0.62824	D	0.977	0.73820	D	.	.	.	.	1	0.08975	N	1.455	0.36767	L	7.15	0.00448	T	-1.33	0.33197	N	0.032	0.07535	-0.8872	0.49172	T	0.003	0.00832	T	9	0.09381515	0.16631	T	6.06E-4	0.00274	T	0.049	0.13647	0.278	0.23164	0.309530620856	0.30565	0.04776419956839925	0.04719	0.00263683917289	0.00224	0.397166699171	0.24675	T	0.009012	0.08229	T	-0.310709	0.07687	T	-0.684088	0.06738	T	0.0624436335153859	0.07548	T	.	.	.	0.069478154	0.15226	0.052691333	0.08732	0.069478154	0.15226	0.052691333	0.08731	-5.991	0.46204	T	.	.	0.123	0.25914	B	.;.	.;.	1.370321	0.17801	13.38	0.9555976710174543	0.27236	0.00357	0.01833	N	AEFBI	0.023672	0.01352	N	-0.665085175571445	0.17022	0.8724157	-0.948421509682792	0.10960	0.5553993	3.55301781292242E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	1.4	-2.23	0.06539	0.255000	0.18102	.	.	0.660000	0.55035	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3911:0.0:0.0:0.6089	3.962	0.08909	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	0.09524	1160.99	140	chr19	54866533	.	A	T	1160.99	.	AC=4;AF=0.095;AN=42;BaseQRankSum=0.052;DP=5436;ExcessHet=0.6776;FS=29.613;InbreedingCoeff=-0.1067;MLEAC=4;MLEAF=0.095;MQ=58.36;MQRankSum=-2.122e+01;QD=0.61;ReadPosRankSum=0.502;SOR=2.870	GT:AD:DP:GQ:PL	0/1:448,54:502:99:177,0,13459	17	0	4	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	0/1:62,41,0:103:99:.:.:1541,0,2474,1728,2603,4331	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	0/1:62,41,0:103:99:.:.:1541,0,2474,1728,2603,4331	0	18	2	0
chr19	56159912	56159912	-	CCCCGGCAG	exonic	ZNF444	.	nonframeshift insertion	ZNF444:NM_001253792:exon5:c.692_693insCCCCGGCAG:p.G236_P237insSPG	.	.	425	1005	77	3	12	95	0.039656	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1845.05	34	chr19	56159903	.	ACCCCGGCAG	ACCCCGGCAGCCCCGGCAG,A	1845.05	.	AC=1,1;AF=0.024,0.024;AN=42;BaseQRankSum=1.42;DP=777;ExcessHet=0.1072;FS=3.864;InbreedingCoeff=-0.0500;MLEAC=1,1;MLEAF=0.024,0.024;MQ=60.00;MQRankSum=0.00;QD=19.22;ReadPosRankSum=-2.150e-01;SOR=1.168	GT:AD:DP:GQ:PL	0/2:24,0,30:54:99:1159,1231,2232,0,1001,910	19	0	1	0
chr19	56442222	56442222	C	T	exonic	ZNF667	.	nonsynonymous SNV	ZNF667:NM_022103:exon5:c.G773A:p.C258Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.99	D	0.005	N	1.000	D	3.055	M	-10.2	D	0.895	D	0.999	D	0.845	1.499	10.96	5.05	2.616	4.671	15.942	0.688	0.0518635902684	.	0.000998403	0.0007	0	0	0	0	0	0.0022	0.0050	0.0005821	90	154602	rs370312876	0.0003	0.0003	0.0002	0.0004	0.0048	0.0003	0.0003	0.0044	0.0042	0	0	0	0	0	0	0	0.0003	0.0048	0.0002	0.0002	3.855e-05	0.0003	0.0058	0.0001	0.0001	0.0041	0.0036	0	0	0	0	0	0	0	0	0	0.0058	0.0	0.91255	D	0.004	0.74150	D	1.0	0.90584	D	0.985	0.76457	D	0.005127	0.33071	N	0.141522	0.999884	0.50402	D	2.535	0.73915	M	-10.2	0.99973	D	-10.64	0.99130	D	0.584	0.64648	0.895	0.95599	D	0.999	0.99972	D	10	0.032320797	0.01381	T	0.051864	0.64837	D	0.688	0.88632	.	.	0.981619403517	0.98142	0.1685042918668298	0.16770	0.32952119624	0.35062	0.659057080746	0.61274	T	0.386278	0.74748	T	0.13219	0.67574	D	0.417646	0.92669	D	0.275804944536599	0.23994	T	0.30317	0.46941	T	0.9117739	0.92460	0.7563115	0.85599	0.9117739	0.92461	0.7563115	0.85599	-6.441	0.49829	T	.	.	0.467	0.63038	A	.;.;.	.;.;.	2.419911	0.31114	18.64	0.77190904021252604	0.11774	0.95990	0.67036	D	AEFGBCI	0.751408	0.69223	D	0.521459848283083	0.68359	5.206467	0.348169789376562	0.58398	4.009996	0.999996656059166	0.74766	0.732398	0.92422	0	0.573888	0.26702	0	0.743671	0.96076	0	0.564101	0.26826	0	.	.	5.05	5.05	0.67566	4.626000	0.60968	.	.	0.456000	0.21511	1.000000	0.71638	0.018000	0.20648	0.007000	0.07825	0.0:1.0:0.0:0.0	15.942	0.79551	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	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	3435.98	34	chr19	56442222	.	C	T	3435.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.255e+00;DP=1907;ExcessHet=0.0000;FS=1.167;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.41;ReadPosRankSum=-1.010e-01;SOR=0.718	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,91:177:99:0|1:56442216_T_C:3450,0,3313:56442216	20	0	1	0
chr19	57702458	57702458	C	T	exonic	ZNF154	.	nonsynonymous SNV	ZNF154:NM_001085384:exon3:c.G491A:p.S164N,	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	.	.	1.000	N	0.26	N	3.71	T	-0.920	T	0.003	T	0.003	2.629	14.75	-0.407	0.011	-2.386	3.104	0.040	.	0.0073	0.00439297	0.0066	0.0013	0.0025	0.0122	0.0150	0.0079	0.0066	0.0010	0.0064165	992	154602	rs61738876	0.0091	0.0091	0.0093	0.0088	0.0104	0.0089	0.0089	0.0102	0.0101	0.0015	0.0027	0.0010	0.0091	0.0124	0.0002	0.0104	0.0063	0.0013	0.0065	0.0065	0.0065	0.0065	0.0114	0.0062	0.0060	0.0092	0.0090	0.0014	0	0.0026	0.0012	0.0114	0.0136	0	0.0099	0.0038	0.0014	0.14	0.25664	T	0.204	0.27235	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.45	0.12780	N	3.71	0.04046	T	-0.75	0.21003	N	0.09	0.06854	-0.9203	0.45513	T	0.003	0.00994	T	9	0.004165828	0.00082	T	.	.	.	0.040	0.10527	.	.	0.0986583533028	0.09354	0.03319861772966154	0.03267	0.086980305371	0.09809	0.242131650448	0.02985	T	0.005791	0.05238	T	-0.787549	0.00010	T	-0.891712	0.00563	T	0.00463790540218513	0.00050	T	.	.	.	0.14616975	0.33473	0.10676776	0.25691	0.14616975	0.33473	0.10676776	0.25690	-5.569	0.42508	T	.	.	0.158	0.34970	B	.	.	-0.437667	0.02075	0.192	0.86377061022671786	0.16495	0.01518	0.05011	N	AEFBI	0.025335	0.01718	N	-1.2493264316387	0.04309	0.194205	-1.23585155959919	0.05344	0.254384	1.03873629729759E-4	0.05123	0.562547	0.31514	0	0.653731	0.59785	0	0.575934	0.27490	0	0.491896	0.07777	0	.	.	3.03	-0.407	0.11768	-5.338000	0.00155	.	.	0.526000	0.24426	0.000000	0.06391	0.000000	0.08366	0.046000	0.14843	0.0:0.4907:0.233:0.2763	3.104	0.05954	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	rs61738876	Likely benign	0	0	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	2279.98	42	chr19	57702458	.	C	T	2279.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.05;DP=1228;ExcessHet=0.0000;FS=1.106;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.46;ReadPosRankSum=-1.630e-01;SOR=0.795	GT:AD:DP:GQ:PL	0/1:112,87:199:99:2294,0,2822	20	0	1	0
chr19	57916383	57916383	G	C	exonic	ZNF417	.	nonsynonymous SNV	ZNF417:NM_001297734:exon1:c.C29G:p.T10S	.	.	424	1091	7	0	0	7	0.00319781	.	.	705299	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.79	T	0.0	B	0.0	B	.	.	1.000	N	-0.24	N	3.41	T	-0.914	T	0.003	T	0.051	-0.923	0.392	-0.389	-0.008	-0.040	3.18	0.012	.	0.0070	0.00479233	0.0072	0.0020	0.0017	0.0177	0.0155	0.0080	0.0089	0.0019	0.007115	1100	154602	rs146519620	0.0089	0.0089	0.0092	0.0087	0.0110	0.0088	0.0087	0.0102	0.0098	0.0018	0.0017	0.0009	0.0110	0.0125	0.0019	0.0100	0.0072	0.0027	0.0068	0.0068	0.0067	0.0069	0.0166	0.0065	0.0063	0.0138	0.0127	0.0020	0	0.0020	0.0012	0.0166	0.0134	0	0.0096	0.0047	0.0056	0.637	0.05046	T	0.932	0.14865	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.19694	N	-1.33	0.00679	N	3.41	0.05574	T	0.29	0.04161	N	0.141	0.14054	-0.9145	0.46285	T	0.003	0.01092	T	9	0.0040403306	0.00079	T	.	.	.	0.012	0.01476	0.163	0.06730	0.221734844693	0.21761	0.04225834719548614	0.04170	.	.	0.465177088976	0.34019	T	0.001322	0.02166	T	-0.703322	0.00035	T	-0.767454	0.02853	T	0.00642501536434136	0.00071	T	0.00833667	0.00038	T	0.059754975	0.12180	0.05152348	0.08307	0.059754975	0.12180	0.05152348	0.08307	-2.413	0.05213	T	.	.	0.081	0.20313	B	.;.	.;.	0.411567	0.07823	4.518	0.22904005190390489	0.00943	0.01326	0.04577	N	ALL	0.041021	0.06181	N	-1.38757939138697	0.02753	0.1220436	-1.4236380656846	0.03017	0.1399422	0.999856282716645	0.44174	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	1.93	-0.389	0.11835	1.056000	0.30089	.	.	0.597000	0.34315	0.002000	0.15269	0.000000	0.08366	0.001000	0.02609	0.181:0.2821:0.5369:0.0	3.18	0.06188	982	0.03397	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	2397.98	33	chr19	57916383	.	G	C	2397.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.040e-01;DP=891;ExcessHet=0.0000;FS=0.587;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.87;MQRankSum=5.58;QD=14.89;ReadPosRankSum=-2.580e-01;SOR=0.639	GT:AD:DP:GQ:PL	0/1:69,92:161:99:2412,0,1642	20	0	1	0
chr19	58350633	58350633	T	G	exonic	A1BG	.	nonsynonymous SNV	A1BG:NM_130786:exon6:c.A929C:p.E310A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.72	T	0.021	B	0.103	B	0.596	N	1.000	N	1.1	L	5.8	T	-0.907	T	0.002	T	0.168	-0.083	3.594	-5.54	-1.529	-1.980	2.418	0.026	0.0190266516609	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	0.13699	T	0.218	0.26066	T	0.021	0.18474	B	0.103	0.30945	B	0.595622	0.05616	N	1.301300	1	0.08975	N	1.06	0.26948	L	5.8	0.01114	T	-0.23	0.10656	N	0.087	0.06454	-0.9070	0.47215	T	0.002	0.00738	T	10	0.039272964	0.02405	T	0.019027	0.41279	T	0.026	0.05648	0.229	0.15556	0.166414681773	0.16258	0.2777838814062749	0.27691	0.482527676696	0.47219	0.621379852295	0.55924	T	0.144309	0.48087	T	-0.295294	0.09111	T	-0.661946	0.08135	T	0.13820119202137	0.16119	T	0.394561	0.15399	T	0.035406977	0.04162	0.039752193	0.04141	0.035406977	0.04162	0.039752193	0.04141	-2.775	0.07955	T	.	.	0.074	0.12276	B	.;.	.;.	0.205002	0.05893	2.333	0.28583045254131939	0.01475	0.01250	0.04399	N	AEFDBHI	0.148062	0.27187	N	-1.9544492333405	0.00265	0.01134703	-2.0408841477752	0.00250	0.01104685	0.999997857966967	0.74766	0.437478	0.07067	0	0.296712	0.05252	1	0.578056	0.29568	0	0.603991	0.37454	0	.	.	4.04	-5.54	0.02343	-0.910000	0.04163	-1.488000	0.05326	-1.809000	0.00614	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5325:0.0871:0.1265:0.2539	2.418	0.04170	958	0.09170	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	0.02381	250.98	25	chr19	58350633	.	T	G	250.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.443;DP=449;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0246;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.94;ReadPosRankSum=1.38;SOR=0.551	GT:AD:DP:GQ:PL	0/1:8,10:18:99:265,0,204	20	0	1	0
chr20	25676803	25676803	G	C	exonic	ZNF337	.	nonsynonymous SNV	ZNF337:NM_001290261:exon4:c.C485G:p.P162R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.42	T	0.956	P	0.392	B	.	.	1.000	N	0.805	L	3.43	T	-0.968	T	0.011	T	0.176	1.185	9.817	1.13	0.922	0.104	3.460	0.063	0.00245786651831	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767268965	2.736e-06	2.736e-06	4.084e-06	1.375e-06	1.159e-05	6.4e-07	4.3e-07	.	.	0	0	0	0	1.872e-05	0	8.993e-07	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.35	0.12305	T	0.307	0.19908	T	0.91	0.50240	P	0.34	0.42389	B	.	.	.	.	1	0.08975	N	0.695	0.17993	N	3.43	0.05440	T	-0.7	0.19933	N	0.081	0.05799	-0.9683	0.37551	T	0.011	0.04274	T	9	0.110019684	0.20547	T	0.002458	0.04868	T	0.063	0.18251	0.26	0.20315	0.279370189704	0.27548	0.03604520072150305	0.03551	0.323038571661	0.34472	0.310614407063	0.12000	T	0.005529	0.04982	T	-0.29715	0.08932	T	-0.664612	0.07958	T	0.167807234105139	0.18430	T	0.348165	0.07698	T	0.02731715	0.01907	0.040419128	0.04362	0.02731715	0.01906	0.040419128	0.04362	-3.433	0.15504	T	.	.	0.074	0.06990	B	.;.	.;.	1.672117	0.21320	15.15	0.97819088943353849	0.36181	0.05996	0.11959	N	AEFBHCI	0.024475	0.01522	N	-0.618553324595659	0.18387	0.9542041	-0.777080434556987	0.15057	0.7900123	0.99950873467805	0.40062	0.706548	0.73137	0	0.724815	0.89359	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	1.13	1.13	0.19758	-1.062000	0.03579	-7.677000	0.01107	0.495000	0.22486	0.000000	0.06391	0.000000	0.08366	0.653000	0.32775	0.2652:0.0:0.7348:0.0	3.460	0.07097	730	0.54327	.;.	.	.	.	.	.	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	2371.98	44	chr20	25676803	.	G	C	2371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.859e+00;DP=917;ExcessHet=0.0000;FS=3.080;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=11.24;ReadPosRankSum=0.687;SOR=0.704	GT:AD:DP:GQ:PL	0/1:110,101:211:99:2386,0,2968	20	0	1	0
chr20	33291957	33291957	T	C	exonic	BPIFB1	.	nonsynonymous SNV	BPIFB1:NM_033197:exon6:c.T566C:p.V189A,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.75	T	0.896	P	0.334	B	0.190	N	1.000	N	2.015	M	3.48	T	-0.914	T	0.021	T	0.119	1.932	12.42	-1.16	-0.123	-0.242	8.994	0.091	0.00332675331765	.	.	1.647e-05	0	0	0	0	2.997e-05	0	0	1.29e-05	2	154602	rs774623906	2.736e-06	2.736e-06	0	5.5e-06	0.0002	6.4e-07	4.3e-07	3e-07	1.1e-07	2.987e-05	0	0	0	0	0.0002	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.12511	T	0.048	0.48594	D	0.896	0.49324	P	0.334	0.42203	B	0.190026	0.03243	N	1.590230	1	0.08975	N	1.975	0.53506	M	3.48	0.05130	T	-0.87	0.23590	N	0.061	0.03283	-0.9138	0.46377	T	0.021	0.08870	T	10	0.10737389	0.19942	T	0.003327	0.07421	T	0.091	0.26358	0.389	0.41115	0.0611884634855	0.05136	0.18053019198777528	0.17972	0.208046391582	0.23274	0.306358397007	0.11357	T	0.002039	0.01452	T	-0.337472	0.05565	T	-0.707046	0.05449	T	0.12225300811425	0.14648	T	0.416558	0.10945	T	0.040547613	0.05807	0.047978193	0.07030	0.040547613	0.05807	0.047978193	0.07030	-4.011	0.23968	T	.	.	0.202	0.42635	B	.	.	0.559293	0.09281	6.060	0.67045943935130536	0.08238	0.02896	0.07687	N	ALL	0.031245	0.03299	N	-0.843012115470879	0.12221	0.5944535	-1.0079058785309	0.09610	0.4791402	0.999566955367009	0.40425	0.520426	0.21595	0	0.596394	0.48810	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.07	-1.16	0.09181	-0.234000	0.09044	0.041000	0.13868	-0.707000	0.03972	0.019000	0.19563	0.000000	0.08366	0.006000	0.07323	0.0:0.4257:0.0:0.5743	8.994	0.35201	59	0.97452	Lipid-binding serum glycoprotein, N-terminal|Lipid-binding serum glycoprotein, 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	986.98	33	chr20	33291957	.	T	C	986.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-5.000e-01;DP=775;ExcessHet=0.0000;FS=1.593;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=9.77;ReadPosRankSum=0.010;SOR=0.542	GT:AD:DP:GQ:PL	0/1:56,45:101:99:1001,0,1418	20	0	1	0
chr20	33623168	33623168	G	C	exonic	CBFA2T2	.	nonsynonymous SNV	CBFA2T2:NM_001032999:exon5:c.G564C:p.K188N	.	.	429	1092	1	0	0	1	0.000457666	.	.	2424789	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.17	T	0.999	D	0.998	D	0.000	D	1.000	D	1.1	L	0.91	T	-0.889	T	0.173	T	0.381	3.890	19.78	5.07	1.541	5.771	12.024	0.340	0.021924474261	.	0.000199681	7.444e-05	0	8.657e-05	0	0	0.0001	0	6.069e-05	6.47e-05	10	154602	rs199515579	9.166e-05	9.235e-05	0.0001	7.7e-05	0.0010	7.89e-05	7.365e-05	0.0005	0.0003	5.974e-05	0.0004	3.826e-05	0	0	0.0010	8.363e-05	0.0002	1.159e-05	0.0002	0.0002	0.0002	0.0002	0.0012	0.0001	0.0001	0.0008	0.0007	4.81e-05	0	0.0012	0	0	0	0	8.819e-05	0.0009	0	0.135	0.26192	T	0.124	0.48855	T	0.999	0.77913	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.005	0.25186	L	0.91	0.44856	T	-3.96	0.75220	D	0.727	0.77319	-0.8892	0.49004	T	0.173	0.51564	T	10	0.35582048	0.52335	T	0.021924	0.44763	T	0.340	0.66202	0.488	0.57257	0.371383927776	0.36753	0.7898378606664911	0.78935	1.68142980145	0.89980	0.866515755653	0.92066	D	0.465283	0.80049	T	-0.302557	0.08420	T	-0.374819	0.36327	T	0.482089936733246	0.31974	T	0.973503	0.90460	D	0.6605041	0.75926	0.4245349	0.66290	0.6605041	0.75927	0.4245349	0.66290	-8.045	0.63438	D	.	.	0.924	0.89856	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.199297	0.63353	24.6	0.99813471185222025	0.89708	0.98594	0.84485	D	AEFDGBI	0.738288	0.68321	D	0.569910558398221	0.71303	5.630344	0.592762004432859	0.74417	6.133958	0.880836321654349	0.25617	0.758104	0.99027	0	0.653731	0.59785	0	0.691618	0.62860	0	0.635551	0.53088	0	.	.	6.02	5.07	0.68106	5.022000	0.63850	3.499000	0.38765	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.1375:0.0:0.8625:0.0	12.024	0.52654	94	0.96106	.;TAFH/NHR1|TAFH/NHR1|TAFH/NHR1;.;TAFH/NHR1|TAFH/NHR1|TAFH/NHR1;.;.;.	.	.	.	.	.	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	1607.98	35	chr20	33623168	.	G	C	1607.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.435e+00;DP=828;ExcessHet=0.0000;FS=0.610;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.86;ReadPosRankSum=0.987;SOR=0.638	GT:AD:DP:GQ:PL	0/1:80,68:148:99:1622,0,2140	20	0	1	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	0/1:97,54:151:99:279,0,1712	2	0	19	0
chr20	35653998	35653998	T	A	exonic	RBM12	.	nonsynonymous SNV	RBM12:NM_001198840:exon2:c.A1325T:p.E442V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.989	D	0.938	D	0.000	D	1.000	D	0.835	L	3.15	T	-1.111	T	0.039	T	0.761	2.816	15.38	4.77	2.019	5.681	14.545	0.236	0.0148505589449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.011	0.64786	D	0.989	0.62824	D	0.938	0.67350	D	0.000012	0.62929	D	0.066521	1	0.81001	D	0.895	0.22405	L	3.15	0.07820	T	-4.18	0.75537	D	0.248	0.28849	-1.1105	0.03027	T	0.039	0.16806	T	10	0.3697551	0.53383	T	0.014851	0.35231	T	0.236	0.53931	0.472	0.54699	0.442466506703	0.43865	0.7138423932096902	0.71327	0.790096734141	0.65732	0.802283644676	0.82311	T	0.25796	0.62906	T	0.0282349	0.55487	T	-0.197219	0.54910	T	0.985107243061066	0.76198	D	0.785321	0.42297	T	0.36104435	0.57916	0.33053842	0.58922	0.36104435	0.57916	0.33053842	0.58921	-6.086	0.46993	T	.	.	0.939	0.85870	P	.;.;.	.;.;.	3.767169	0.54085	23.4	0.98917238453443146	0.48491	0.90931	0.52533	D	AEFDBHCI	.	.	.	0.48869346107583	0.66428	4.948901	0.505200052899933	0.68340	5.206531	0.999999999992426	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	4.77	4.77	0.60425	5.852000	0.69220	7.933000	0.75122	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	14.545	0.67612	359	0.84979	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM12, RNA recognition motif 3;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM12, RNA recognition motif 3;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RBM12, RNA recognition motif 3	.	.	.	.	.	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	2939.98	33	chr20	35653998	.	T	A	2939.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.542e+00;DP=947;ExcessHet=0.0000;FS=4.689;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.55;ReadPosRankSum=0.824;SOR=1.013	GT:AD:DP:GQ:PL	0/1:110,107:217:99:2954,0,2982	20	0	1	0
chr20	42098502	42098502	G	T	exonic	PTPRT	.	nonsynonymous SNV	PTPRT:NM_007050:exon27:c.C3765A:p.N1255K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	1.0	D	0.995	D	0.000	D	1.000	D	1.88	L	2.43	T	-1.059	T	0.118	T	0.352	5.093	31	5.79	2.739	6.797	20.021	0.395	0.0194009319663	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.84e-07	6.84e-07	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.033	0.53788	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.94	0.52218	M	2.43	0.15261	T	-3.95	0.73477	D	0.784	0.81360	-1.0586	0.12108	T	0.118	0.41538	T	10	0.63141596	0.68538	D	0.019401	0.41752	T	0.395	0.71004	0.597	0.72739	0.423782897388	0.41995	0.7946379199810907	0.79416	1.72144158089	0.90593	0.745367944241	0.73763	T	0.575575	0.86018	D	-0.11899	0.33289	T	-0.408697	0.32375	T	0.98704320192337	0.77620	D	0.962554	0.86020	D	0.6832533	0.77145	0.7209802	0.83525	0.6832533	0.77146	0.7209802	0.83526	-12.004	0.85311	D	0.5565047129737047	0.62459	0.737	0.74727	P	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.659503	0.74356	26.1	0.99874715758882393	0.95160	0.95345	0.64359	D	AEFDBHCI	0.899792	0.84458	D	0.806197101116686	0.86492	8.902982	0.808926188157454	0.90408	10.39333	0.999999999954122	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.79	5.79	0.91751	6.918000	0.75609	6.663000	0.56254	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.021	0.97498	798	0.45050	PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;PTP type protein phosphatase|PTP type protein phosphatase|PTP type protein phosphatase;.	.	.	.	.	.	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	896.98	33	chr20	42098502	.	G	T	896.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.774e+00;DP=754;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.47;ReadPosRankSum=-3.270e-01;SOR=0.686	GT:AD:DP:GQ:PL	0/1:27,35:62:99:911,0,772	20	0	1	0
chr20	44118507	44118507	G	A	exonic	JPH2	.	nonsynonymous SNV	JPH2:NM_020433:exon3:c.C1286T:p.P429L,	Cardiomyopathy, hypertrophic, 17, Autosomal dominant	.	.	.	.	.	.	.	.	0.9984	0.904	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.998	D	0.000	D	1.000	D	2.23	M	-0.14	T	-0.130	T	0.429	T	0.765	4.986	29.2	4.97	2.301	8.797	17.006	0.479	0.240471729811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.852e-07	6.841e-07	0	1.377e-06	9e-07	0	0	.	.	0	0	0	0	0	0	9e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.39	0.68882	M	-0.14	0.65006	T	-7.21	0.94249	D	0.817	0.81261	-0.1298	0.79406	T	0.429	0.77179	T	10	0.8694502	0.86204	D	0.240472	0.88675	D	0.479	0.77012	0.311	0.28451	0.910233725849	0.90933	0.9492448281434115	0.94907	.	.	0.783362567425	0.79435	T	0.490174	0.81508	T	0.189597	0.72927	D	0.034566	0.72575	D	0.997765302658081	0.92364	D	0.976502	0.91818	D	0.7004121	0.78079	0.6134784	0.77507	0.7004121	0.78081	0.6134784	0.77508	-10.149	0.74799	D	.	.	0.965	0.88748	P	.	.	6.283449	0.94942	34	0.9988189295976132	0.95813	0.98013	0.78872	D	AEFDBI	0.962300	0.98385	D	0.81618193261053	0.87106	9.105391	0.780507955947695	0.88404	9.570349	0.999999997909374	0.74766	0.516011	0.20929	0	0.610034	0.51514	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.97	4.97	0.65419	9.257000	0.94725	11.624000	0.93645	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	17.006	0.86266	607	0.67291	.	.	.	.	.	.	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	1427.98	38	chr20	44118507	.	G	A	1427.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.323e+00;DP=798;ExcessHet=0.0000;FS=0.838;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.87;ReadPosRankSum=0.129;SOR=0.861	GT:AD:DP:GQ:PL	0/1:34,56:90:99:1442,0,919	20	0	1	0
chr20	51729952	51729952	C	A	exonic	ATP9A	.	nonsynonymous SNV	ATP9A:NM_006045:exon2:c.G95T:p.G32V,	.	.	428	1050	41	3	0	47	0.021891	.	.	705551	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.08	T	0.57	P	0.31	B	0.000	D	1.000	D	1.355	L	0.59	T	-0.836	T	0.171	T	0.756	3.616	18.40	5.27	2.608	7.257	19.236	0.205	.	0.0030	0.00599042	0.0064	0.0007	0.0018	0	0.0035	0.0045	0.0071	0.0297	0.005899	912	154602	rs142435125	0.0057	0.0057	0.0051	0.0063	0.0250	0.0056	0.0055	0.0241	0.0237	0.0004	0.0014	0.0163	2.613e-05	0.0025	0.0145	0.0046	0.0056	0.0250	0.0033	0.0033	0.0032	0.0034	0.0200	0.0031	0.0030	0.0167	0.0155	0.0007	0	0.0006	0.0147	0.0002	0.0030	0.0204	0.0040	0.0024	0.0200	0.17	0.22833	T	0.316	0.19362	T	0.57	0.38545	P	0.147	0.34014	B	0.000000	0.84330	D	0.000000	0.999996	0.81001	D	1.5	0.37844	L	0.59	0.53943	T	-2.17	0.49018	N	0.678	0.71055	-0.8359	0.52917	T	0.171	0.51309	T	10	0.0062817633	0.00142	T	.	.	.	0.205	0.49236	.	.	0.228066490088	0.22430	0.734965493781235	0.73441	1.03928217302	0.75733	0.783974707127	0.79528	T	0.122417	0.44607	T	-0.247686	0.14383	T	-0.109636	0.62642	T	0.0238870667430265	0.01130	T	0.940506	0.77585	D	0.29506063	0.52458	0.25470945	0.51141	0.29506063	0.52458	0.25470945	0.51140	-9.218	0.69089	D	.	.	0.152	0.33687	B	.;.	.;.	3.753699	0.53817	23.4	0.99419922879306388	0.63694	0.97975	0.78564	D	AEFDHI	0.864955	0.78390	D	0.27288617964197	0.54777	3.642689	0.404589802775665	0.61851	4.391058	0.9999999999934	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.27	5.27	0.73797	7.379000	0.78975	4.672000	0.44283	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:1.0:0.0:0.0	19.236	0.93848	958	0.09170	.;.	.	.	.	.	rs142435125	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	1535.98	34	chr20	51729952	.	C	A	1535.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.591e+00;DP=947;ExcessHet=0.0000;FS=5.230;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.91;ReadPosRankSum=0.944;SOR=0.353	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1550,0,1206	20	0	1	0
chr20	56524998	56524998	C	T	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C190T:p.L64F,	.	.	431	1064	27	0	0	27	0.012529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.82	T	0.002	B	0.004	B	0.301	N	1.000	N	0.49	N	3.04	T	-0.984	T	0.011	T	0.117	1.471	10.86	-3.08	-0.884	-2.316	0.472	0.005	0.00221928690667	.	.	0.0001	0.0002	0.0003	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs2019515	1.028e-05	0.0004	6.814e-06	1.378e-05	0.0001	6.17e-06	4.89e-06	5.428e-05	4.065e-05	0	0	0	2.519e-05	0	0	2.701e-06	3.317e-05	0.0001	1.981e-05	0.0003	0	4.056e-05	0.0002	5.27e-06	2.46e-06	4.91e-06	1.84e-06	0	0	0	0	0	0	0	2.959e-05	0	0.0002	0.612	0.05436	T	0.773	0.04431	T	0.002	0.09854	B	0.004	0.10090	B	0.300512	0.03952	N	1.580940	1	0.08975	N	0.895	0.22405	L	3.04	0.08810	T	0.08	0.06026	N	0.062	0.03392	-0.9840	0.34069	T	0.011	0.03949	T	10	0.02841866	0.00974	T	0.002219	0.04206	T	0.005	0.00259	.	.	0.0297737177859	0.01360	0.03433896955149916	0.03381	0.844967140893	0.68244	.	.	.	0.003816	0.03222	T	-0.372816	0.03454	T	-0.773301	0.02661	T	0.0671559348702431	0.08246	T	0.462454	0.13421	T	0.038233127	0.05054	0.049408853	0.07543	0.038233127	0.05053	0.049408853	0.07542	-4.498	0.30863	T	.	.	0.104	0.19032	B	.	.	-0.469087	0.01968	0.170	0.96523846478246433	0.30126	0.00138	0.00846	N	AEFDGBI	0.019902	0.00734	N	-1.56715141177652	0.01437	0.06267459	-1.58472377924509	0.01749	0.07952678	0.0122422385556242	0.12299	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	-3.08	0.05022	-2.308000	0.01212	-2.687000	0.03467	-0.189000	0.09497	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3755:0.2307:0.1287:0.2652	0.472	0.00497	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	1	0	0	0	0.05	1447.8	34	chr20	56524998	.	C	T	1447.8	.	AC=2;AF=0.050;AN=40;BaseQRankSum=3.82;DP=1816;ExcessHet=0.1072;FS=15.013;InbreedingCoeff=-0.0633;MLEAC=2;MLEAF=0.050;MQ=58.28;MQRankSum=-1.812e+01;QD=1.87;ReadPosRankSum=-2.959e+00;SOR=2.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:353,49:402:99:0|1:56524998_C_T:924,0,14565:56524998	18	0	2	1
chr20	56525005	56525005	T	C	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.T197C:p.V66A,	.	.	431	1066	25	0	0	25	0.0115902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	T	0.0	B	0.003	B	0.971	N	1.000	N	0.755	N	2.87	T	-0.930	T	0.022	T	0.2	1.063	9.340	3.17	0.040	0.452	9.126	0.095	0.00413359579284	.	.	0.0001	0.0002	0.0002	0	0	0.0001	0	0.0001	3.84e-05	1	26028	rs707554	1.164e-05	0.0002	8.172e-06	1.514e-05	0.0001	7.09e-06	5.8e-06	5.414e-05	4.055e-05	0	0	0	5.038e-05	1.874e-05	0	2.699e-06	3.314e-05	0.0001	2.637e-05	0.0003	2.578e-05	2.699e-05	0.0002	8.16e-06	5.15e-06	7.99e-06	2.99e-06	4.82e-05	0	0	0	0	0	0	1.476e-05	0	0.0002	0.222	0.18823	T	0.16	0.31427	T	0.0	0.02946	B	0.003	0.08700	B	0.971007	0.07778	N	1.017990	1	0.08975	N	1.295	0.32453	L	2.87	0.10386	T	-2.37	0.52289	N	0.136	0.13341	-0.9305	0.44066	T	0.022	0.09330	T	10	0.04262361	0.03030	T	0.004134	0.09900	T	0.095	0.27398	.	.	0.0138822411134	0.00435	0.11297937074249534	0.11225	0.256975690804	0.28266	.	.	.	0.01954	0.15549	T	-0.301829	0.08488	T	-0.671333	0.07523	T	0.0392241445291004	0.03550	T	0.368563	0.08641	T	0.049625613	0.08839	0.06962658	0.14694	0.049625613	0.08839	0.06962658	0.14694	-3.495	0.16361	T	.	.	0.069	0.03197	B	.	.	0.623466	0.09921	6.678	0.47635595541083875	0.03910	0.04211	0.09723	N	AEFDGBI	0.048429	0.08264	N	-1.39070259787422	0.02724	0.1207108	-1.34673273108721	0.03844	0.1801648	0.00889146502148676	0.11760	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.51	3.17	0.35510	0.454000	0.21539	1.500000	0.26949	-0.840000	0.02799	0.000000	0.06391	0.008000	0.19753	0.000000	0.00833	0.0:0.1709:0.0:0.8291	9.126	0.35973	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	0.04762	935.11	34	chr20	56525005	.	T	C	935.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=5.08;DP=1439;ExcessHet=0.1072;FS=21.289;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=58.23;MQRankSum=-1.684e+01;QD=1.25;ReadPosRankSum=-1.917e+00;SOR=3.509	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:345,40:385:99:0|1:56524998_C_T:619,0,14305:56524998	19	0	2	0
chr20	56525028	56525028	C	A	exonic	FAM209A	.	nonsynonymous SNV	FAM209A:NM_001012971:exon1:c.C220A:p.Q74K,	.	.	431	1086	5	0	0	5	0.00229674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	0.003	N	1.000	N	-1.055	N	3.44	T	-0.928	T	0.004	T	0.059	-1.906	0.008	5.51	0.918	2.570	9.726	0.098	0.00461313702155	.	.	0.0008	0.0013	0.0003	0.0001	0.0002	0.0006	0	0.0026	0.0007956	123	154602	rs17407677	7.151e-05	0.0007	6.43e-05	7.881e-05	0.0007	6.011e-05	5.617e-05	0.0005	0.0004	0.0007	8.987e-05	0.0002	0.0001	0	0	4.879e-05	0.0001	7.045e-05	0.0001	0.0004	9.04e-05	0.0001	0.0003	6.547e-05	5.351e-05	0.0002	0.0001	0.0003	0	0	0	0	0	0	4.439e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.002593	0.36278	N	0.122015	1	0.19853	N	-1.5	0.00507	N	3.44	0.05375	T	2.95	0.00148	N	0.075	0.04913	-0.9276	0.44487	T	0.004	0.01400	T	10	0.0099900365	0.00224	T	0.004613	0.11409	T	0.098	0.28162	.	.	0.0297737177859	0.01360	0.10563315732390571	0.10493	0.270586652875	0.29581	.	.	.	0.009718	0.08828	T	-0.368858	0.03652	T	-0.767616	0.02847	T	0.00456141500834141	0.00049	T	0.286271	0.05116	T	0.045506917	0.07461	0.082792595	0.18922	0.045506917	0.07461	0.082792595	0.18922	-2.9	0.09143	T	.	.	0.038	0.00010	B	.	.	1.176085	0.15662	12.01	0.51014253988289371	0.04486	0.00193	0.01117	N	AEFDGBI	0.018941	0.00615	N	-1.10288815836098	0.06591	0.3038684	-0.899816948393615	0.12098	0.6203685	0.237514023181003	0.18534	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	5.51	5.51	0.81769	2.580000	0.45733	7.866000	0.71703	-0.121000	0.13915	0.944000	0.32806	1.000000	0.68203	0.037000	0.13953	0.8253:0.1747:0.0:0.0	9.726	0.39497	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	33.98	34	chr20	56525028	.	C	A	33.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.95;DP=1035;ExcessHet=0.0000;FS=39.828;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=57.67;MQRankSum=-1.220e+01;QD=0.11;ReadPosRankSum=-4.485e+00;SOR=5.155	GT:AD:DP:GQ:PL	0/1:278,23:301:48:48,0,8457	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	0/1:12,9,0:21:99:.:.:264,0,308,300,335,635	14	1	3	2
chr20	63006479	63006484	CGCCGC	-	exonic	BHLHE23	.	nonframeshift deletion	BHLHE23:NM_080606:exon1:c.291_296del:p.R98_R99del,	.	.	321	1199	2	0	0	2	0.000833333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs1019982118	0.0004	0.0004	0.0004	0.0004	0.0005	0.0004	0.0004	0.0004	0.0004	8.613e-05	0.0001	6.268e-05	0	0	0	0.0005	0.0002	0.0001	0.0004	0.0004	0.0004	0.0004	0.0009	0.0003	0.0003	0.0006	0.0004	0.0002	0.0011	0.0009	0	0	0	0	0.0005	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	663.94	19	chr20	63006478	.	GCGCCGC	G	663.94	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.55;DP=675;ExcessHet=0.0000;FS=3.267;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=22.89;ReadPosRankSum=-6.210e-01;SOR=1.371	GT:AD:DP:GQ:PL	0/1:12,17:29:99:678,0,452	20	0	1	0
chr20	63313142	63313142	C	T	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon17:c.C2102T:p.T701M,	.	.	401	1083	38	0	0	38	0.0172414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	T	0.759	P	0.117	B	0.610	N	1.000	N	1.265	L	0.26	T	-1.023	T	0.113	T	0.062	0.341	5.847	2.9	0.754	0.122	6.417	0.094	.	0.0009	0.00658946	0.0065	0	0.0016	0	0	0.0019	0.0143	0.0359	0.0045924	710	154602	rs113242150	0.0027	0.0027	0.0017	0.0037	0.0296	0.0026	0.0026	0.0287	0.0283	0.0001	0.0014	0.0001	7.567e-05	5.764e-05	0.0102	0.0010	0.0032	0.0296	0.0018	0.0019	0.0013	0.0024	0.0305	0.0017	0.0016	0.0265	0.0249	0.0002	0	0.0025	0	0.0002	9.414e-05	0.0068	0.0012	0.0024	0.0305	0.077	0.34982	T	0.237	0.24621	T	0.607	0.43487	P	0.117	0.32014	B	0.609661	0.10879	N	0.817953	1	0.08975	N	1.72	0.44442	L	0.26	0.59314	T	-3.29	0.65742	D	0.133	0.12913	-1.0227	0.22834	T	0.113	0.40331	T	10	0.0076607764	0.00174	T	.	.	.	0.094	0.27141	.	.	0.730699672202	0.72830	0.25479017859737224	0.25393	0.0497487252383	0.05457	0.357383310795	0.19004	T	0.128185	0.45567	T	-0.594325	0.00158	T	-0.604171	0.12463	T	0.0291026394544196	0.01853	T	0.712229	0.32360	T	0.034003984	0.03731	0.092387505	0.21771	0.034003984	0.03731	0.092387505	0.21771	-8.263	0.62848	D	.	.	0.085	0.10111	B	.;.	.;.	0.905163	0.12791	9.309	0.97311240046282699	0.33327	0.02600	0.07167	N	AEFDGBI	0.050795	0.08912	N	-0.653222444637911	0.17367	0.8930204	-0.759528915141065	0.15489	0.8148297	0.999658416521462	0.41424	0.580535	0.33130	0	0.578056	0.33634	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	3.85	2.9	0.32809	0.711000	0.25436	0.002000	0.13306	-0.370000	0.05448	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7673:0.0:0.2327	6.417	0.20924	.	.	Fibronectin type III|Fibronectin type III|Fibronectin type III|Fibronectin type III;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.02381	1803.98	40	chr20	63313142	.	C	T	1803.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.238;DP=861;ExcessHet=0.0000;FS=0.625;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.79;ReadPosRankSum=0.710;SOR=0.758	GT:AD:DP:GQ:PL	0/1:68,73:141:99:1818,0,1662	20	0	1	0
chr20	63328427	63328427	C	A	exonic	COL20A1	.	nonsynonymous SNV	COL20A1:NM_020882:exon34:c.C3710A:p.S1237Y,	.	.	419	1099	4	0	0	4	0.00181653	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.159	B	0.102	B	0.009	U	1.000	N	0.345	N	-2.18	D	-0.453	T	0.435	T	0.096	1.862	12.19	-0.843	-0.123	0.014	2.915	0.180	0.0741124309635	8.3e-05	0.000399361	0.0004	0	0	0	0	6.527e-05	0.0050	0.0027	0.0003299	51	154602	rs376331855	0.0002	0.0002	0.0001	0.0003	0.0026	0.0002	0.0002	0.0023	0.0022	0	8.963e-05	0	0	0	0.0009	6.657e-05	0.0001	0.0026	0.0001	0.0001	3.853e-05	0.0002	0.0029	7.084e-05	5.742e-05	0.0018	0.0014	0	0	0	0	0	0	0	2.94e-05	0.0005	0.0029	0.13	0.26740	T	0.072	0.51421	T	0.099	0.28304	B	0.068	0.30857	B	0.008995	0.01226	U	7.789720	1	0.08975	N	1.79	0.46772	L	-2.2	0.91134	D	-1.7	0.49684	N	0.204	0.25745	-0.4532	0.70294	T	0.435	0.77562	T	10	0.0151847005	0.00319	T	0.074112	0.71959	D	0.180	0.45073	.	.	0.743827233159	0.74152	0.6118707473840612	0.61119	0.0435624466972	0.04694	0.290117442608	0.08940	T	0.010514	0.09491	T	-0.393753	0.02544	T	-0.343923	0.39899	T	0.0306709875521795	0.02094	T	0.50025	0.16784	T	0.08735043	0.20336	0.15779409	0.36879	0.08735043	0.20336	0.15779409	0.36878	-5.368	0.40611	T	.	.	0.079	0.21390	B	.;.;.;.	.;.;.;.	0.366270	0.07386	4.012	0.95756086064517343	0.27736	0.03784	0.09106	N	AEFDBI	0.055319	0.10135	N	-1.19552857413308	0.05068	0.2301503	-1.21934689320945	0.05599	0.26724	6.30313624135973E-4	0.07482	0.422189	0.06491	0	0.547309	0.14657	0	0.600433	0.31921	0	0.613276	0.41899	0	.	.	2.73	-0.843	0.10200	-0.780000	0.04759	0.564000	0.19539	0.454000	0.21428	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.2178:0.4852:0.0:0.297	2.915	0.05397	.	.	.;.;.;.	.	.	.	.	.	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	1376.98	36	chr20	63328427	.	C	A	1376.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.120;DP=865;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.30;ReadPosRankSum=0.940;SOR=0.741	GT:AD:DP:GQ:PL	0/1:35,55:90:99:1391,0,774	20	0	1	0
chr21	5137388	5137388	C	G	exonic	LOC102724159;PWP2	.	nonsynonymous SNV	LOC102724159:NM_001368238:exon15:c.G1904C:p.R635P	.	.	496	1020	6	0	0	6	0.00293255	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449662252	0.0004	0.0004	0.0003	0.0004	0.0099	0.0004	0.0003	0.0078	0.0070	0.0007	0.0004	8.391e-05	0	1.941e-05	0.0099	0.0003	0.0010	0.0013	0.0005	0.0005	0.0006	0.0004	0.0005	0.0004	0.0004	0.0004	0.0003	9.186e-05	0.0238	7.251e-05	0	0	0	0.0290	0.0005	0	0.0005	.	.	.	0.118	0.36233	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.49783	.	.	.	.	.	.	.	0.019749343	0.00445	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.928707	0.73770	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.202	0.42706	B	.	.	1.131865	0.15185	11.65	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.682000	0.37245	-0.674000	0.07920	0.284000	0.18682	1.000000	0.71638	0.000000	0.08366	0.582000	0.30943	.	.	.	.	.	.	.	.	.	.	.	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	0.02632	4289.71	35	chr21	5137388	.	C	G	4289.71	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.12;DP=1041;ExcessHet=0.0000;FS=1.100;InbreedingCoeff=-0.0270;MLEAC=1;MLEAF=0.026;MQ=39.57;MQRankSum=-4.612e+00;QD=10.67;ReadPosRankSum=0.804;SOR=0.722	GT:AD:DP:GQ:PL	0/1:205,197:402:99:4303,0,4299	18	0	1	2
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	0/1:148,141:289:99:3569,0,3624	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	0/1:167,115:282:99:2799,0,4351	6	6	9	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	0/1:84,77:161:99:1673,0,2164	6	6	9	0
chr21	33027799	33027799	G	A	exonic	OLIG2	.	nonsynonymous SNV	OLIG2:NM_005806:exon2:c.G937A:p.G313S,	.	.	425	1085	12	0	0	12	0.00549954	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.45	T	0.008	B	0.003	B	0.024	U	0.966	N	-0.55	N	-0.36	T	-1.032	T	0.095	T	0.106	3.227	16.81	2.75	1.909	4.618	10.258	0.147	.	.	0.00479233	0.0223	0	0	0	.	0	0	0.0302	0.0007374	114	154602	rs527772945	0.0011	0.0011	0.0008	0.0014	0.0146	0.0010	0.0010	0.0138	0.0135	0.0002	0.0004	0	0	0	0.0040	0.0003	0.0014	0.0146	0.0008	0.0008	0.0005	0.0011	0.0159	0.0007	0.0006	0.0131	0.0120	0.0003	0	0.0003	0	0.0002	0	0.0034	0.0003	0.0005	0.0159	0.11	0.29158	T	0.277	0.21880	T	0.008	0.14655	B	0.003	0.08700	B	0.024480	0.26256	U	0.295815	0.966185	0.25905	N	0.44	0.12706	N	-0.36	0.68754	T	0.34	0.03824	N	0.095	0.07535	-1.0319	0.19841	T	0.095	0.35924	T	10	0.0035433471	0.00064	T	.	.	.	0.147	0.38986	0.045	0.00058	0.600666394621	0.59748	0.2782169804401459	0.27734	.	.	0.784941077232	0.79675	T	0.20874	0.56876	T	-0.492605	0.00629	T	-0.469982	0.25518	T	0.0241465658516032	0.01163	T	0.686431	0.29515	T	0.099593215	0.23506	0.14703816	0.34812	0.099593215	0.23505	0.14703816	0.34811	-3.11	0.11411	T	.	.	0.078	0.06663	B	.;.	.;.	3.311498	0.45507	22.1	0.98947868039647136	0.49074	0.84197	0.43280	D	AEFDBHCI	0.328620	0.42922	N	-0.421787598494971	0.24708	1.335987	-0.219550880316716	0.30835	1.739655	0.999964903668859	0.48965	0.59774	0.34471	0	0.563428	0.19063	0	0.606814	0.37721	0	0.63947	0.58350	0	.	.	3.75	2.75	0.31439	2.956000	0.48822	5.894000	0.50799	0.582000	0.30178	0.999000	0.42656	1.000000	0.68203	0.981000	0.58702	0.1228:0.0:0.8772:0.0	10.258	0.42586	640	0.64132	.;.	.	.	.	.	.	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	789.98	35	chr21	33027799	.	G	A	789.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.24;DP=743;ExcessHet=0.0000;FS=9.020;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=19.75;ReadPosRankSum=-4.740e-01;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:19,21:40:99:0|1:33027789_T_C:804,0,714:33027789	20	0	1	0
chr21	36292120	36292120	A	G	exonic	DOP1B	.	nonsynonymous SNV	DOP1B:NM_001320714:exon36:c.A6532G:p.I2178V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	N	0.939	N	-1.595	N	1.09	T	-1.028	T	0.028	T	0.09	-0.308	2.532	4.31	1.329	4.916	13.661	0.076	0.0122943492025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.921	0.02864	T	0.0	0.02946	B	0.0	0.01387	B	0.000003	0.62929	N	0.059164	0.939312	0.26839	N	-1.51	0.00497	N	1.09	0.39223	T	0.3	0.04091	N	0.069	0.04188	-1.0275	0.21266	T	0.028	0.11838	T	10	0.0469459	0.03948	T	0.012294	0.30730	T	0.076	0.22200	0.582	0.70861	0.250039746154	0.24611	0.21661415817129256	0.21577	0.146635249538	0.16552	0.309303045273	0.11802	T	0.033918	0.23112	T	-0.285033	0.10141	T	-0.647207	0.09151	T	0.339290082454681	0.26595	T	0.759024	0.38317	T	0.06269728	0.13124	0.073514916	0.15982	0.06269728	0.13124	0.073514916	0.15982	-2.431	0.05326	T	.	.	0.069	0.02960	B	.	.	1.903110	0.24170	16.30	0.7146083946175128	0.09637	0.03038	0.07927	N	AEBI	0.037473	0.05159	N	-0.733609680907834	0.15082	0.7569646	-0.423031196366054	0.24323	1.331285	0.999916580472153	0.45857	0.615465	0.37627	0	0.588066	0.40923	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.23	4.31	0.50718	4.183000	0.58114	9.731000	0.81400	-0.166000	0.11466	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0764:0.0:0.9236:0.0	13.661	0.61839	930	0.16408	.	.	.	.	.	.	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	797.98	34	chr21	36292120	.	A	G	797.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=0.365;DP=1033;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=7.67;ReadPosRankSum=1.43;SOR=0.653	GT:AD:DP:GQ:PL	0/1:65,39:104:99:812,0,1526	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|1:68,9:77:57:0|1:41918930_C_G:57,0,2507:41918930	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|1:68,9:77:57:0|1:41918930_C_G:57,0,2507:41918930	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|1:66,9:75:63:0|1:41918930_C_G:63,0,2451:41918930	12	0	9	0
chr21	44558145	44558145	G	T	exonic	KRTAP10-3	.	nonsynonymous SNV	KRTAP10-3:NM_198696:exon1:c.C571A:p.P191T,	.	.	391	1124	6	1	0	8	0.0035461	.	.	2331906	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.04	D	0.535	P	0.115	B	.	.	1.000	N	1.63	L	5.89	T	-0.919	T	0.003	T	0.331	0.844	8.410	2.75	1.792	1.543	10.514	0.099	0.00325963267996	.	0.000199681	0.0006	0.0003	8.706e-05	0	0	0.0005	0.0022	0.0019	0.0004657	72	154602	rs201268694	0.0003	0.0003	0.0003	0.0004	0.0080	0.0003	0.0003	0.0062	0.0055	0.0002	8.968e-05	0.0008	2.521e-05	0	0.0080	0.0002	0.0005	0.0019	0.0002	0.0002	0.0001	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	2.406e-05	0	0.0001	0.0006	0	0	0	0.0002	0.0009	0.0015	0.025	0.47320	D	0.076	0.42614	T	0.535	0.37805	P	0.115	0.31843	B	.	.	.	.	1	0.81001	D	2.085	0.57729	M	5.89	0.00629	T	-5.66	0.87063	D	0.272	0.30800	-0.9188	0.45716	T	0.003	0.01059	T	9	0.018901676	0.00416	T	0.00326	0.07207	T	0.099	0.28413	.	.	0.232513804876	0.22884	0.08514950096663022	0.08448	0.0273854286493	0.02796	0.242790952325	0.03047	T	0.132764	0.46305	T	-0.504057	0.00543	T	-0.503604	0.21973	T	0.0376645570602941	0.03273	T	0.476852	0.14330	T	0.20139806	0.42150	0.27671713	0.53619	0.20139806	0.42149	0.27671713	0.53618	-9.72	0.72218	D	.	.	0.086	0.10787	B	.	.	2.217758	0.28299	17.75	0.98233316429246365	0.39414	0.32514	0.24604	N	AEFBI	0.059726	0.11301	N	-0.254224545440916	0.30935	1.729708	-0.288808693841663	0.28466	1.58741	0.796207381363339	0.24104	0.497415	0.19182	0	0.59043	0.45803	0	0.491513	0.07944	0	0.542086	0.14980	0	.	.	3.74	2.75	0.31439	1.040000	0.29888	0.284000	0.16799	0.672000	0.70159	0.730000	0.28923	0.000000	0.08366	0.089000	0.17737	0.0:0.1993:0.8007:0.0	10.514	0.44068	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	0.04762	4291.11	45	chr21	44558145	.	G	T	4291.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-6.650e-01;DP=989;ExcessHet=0.1072;FS=1.452;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=14.65;ReadPosRankSum=0.151;SOR=0.809	GT:AD:DP:GQ:PL	0/1:83,80:163:99:2111,0,2345	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	0|1:70,48,0:118:99:0|1:44558616_T_G:1760,0,2795,1970,2939,4910:44558616	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	0|1:71,48,0:119:99:0|1:44558616_T_G:1757,0,2832,1970,2976,4947:44558616	0	17	3	0
chr21	44600767	44600767	-	CA	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.146_147insCA:p.A50Rfs*5,	.	.	398	1104	3	0	17	20	0.00135685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0013	0.0003	0.0003	0.0025	0.0003	0.0002	0.0021	0.0019	0.0017	6.746e-05	0.0005	0.0025	0.0002	0	9.306e-05	0.0005	0.0012	0.0014	0.0054	0.0012	0.0016	0.0032	0.0013	0.0012	0.0027	0.0026	0.0032	0.0011	0.0009	0.0006	0.0023	0.0014	0	0.0005	0.0020	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	408.07	37	chr21	44600767	.	C	CCA	408.07	.	AC=2;AF=0.048;AN=42;BaseQRankSum=3.28;DP=1122;ExcessHet=0.1072;FS=46.102;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=57.63;MQRankSum=-1.444e+00;QD=2.08;ReadPosRankSum=-3.258e+00;SOR=4.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,11:92:99:0|1:44600767_C_CCA:217,0,3341:44600767	19	0	2	0
chr21	44600768	44600768	-	CTGCTGC	exonic	KRTAP10-7	.	frameshift insertion	KRTAP10-7:NM_198689:exon1:c.147_148insCTGCTGC:p.A50Lfs*26,	.	.	408	1098	8	1	7	17	0.00453309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0013	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0018	0.0014	2.305e-05	0.0004	0.0024	0.0002	0	7.187e-05	0.0004	0.0010	0.0013	0.0060	0.0011	0.0014	0.0032	0.0011	0.0010	0.0026	0.0024	0.0032	0.0012	0.0008	0.0003	0.0023	0.0012	0	0.0004	0.0023	0.0016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	409.51	37	chr21	44600768	.	G	GCTGCTGC	409.51	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.03;DP=1112;ExcessHet=0.1072;FS=46.102;InbreedingCoeff=-0.0769;MLEAC=2;MLEAF=0.053;MQ=57.75;MQRankSum=-1.444e+00;QD=2.09;ReadPosRankSum=-3.792e+00;SOR=4.733	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:81,11:92:99:0|1:44600767_C_CCA:217,0,3341:44600767	17	0	2	2
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.575	11119.76	311	chr21	44637708	.	TGTCTGCTGTGTGCCC	T,*	11119.76	.	AC=2,21;AF=0.050,0.525;AN=40;DP=7560;ExcessHet=2.9564;FS=0.000;InbreedingCoeff=-0.1019;MLEAC=2,22;MLEAF=0.050,0.550;MQ=59.91;QD=2.06;SOR=0.752	GT:AD:DP:GQ:PL	0/2:239,0,146:385:99:5275,5994,15650,0,9656,9211	3	1	0	1
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	1/2:0,10,13,0:31:99:1275,579,515,463,0,398,1032,558,417,987	10	0	3	0
chr21	46411844	46411844	C	T	exonic	PCNT	.	nonsynonymous SNV	PCNT:NM_001315529:exon28:c.C5417T:p.A1806V	Microcephalic osteodysplastic primordial dwarfism, type II, Autosomal recessive	.	3	1491	27	1	0	29	0.00963135	.	.	101238	not_specified|not_provided|Microcephalic_osteodysplastic_primordial_dwarfism_type_II	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008872,MedGen:C0432246,OMIM:210720,Orphanet:2637	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.5	T	0.007	B	0.004	B	0.968	N	1.000	N	0.55	N	4.86	T	-0.904	T	0.003	T	0.048	-0.903	0.431	-5.04	-1.613	-1.129	7.825	0.005	.	0.0049	0.00379393	0.0074	0.0038	0.0081	0	0.0025	0.0130	0.0075	0.0013	0.0042108	651	154602	rs184420466	0.0070	0.0069	0.0070	0.0070	0.0180	0.0069	0.0069	0.0149	0.0138	0.0019	0.0073	0.0081	2.696e-05	0.0015	0.0180	0.0079	0.0076	0.0014	0.0060	0.0060	0.0065	0.0054	0.0089	0.0056	0.0055	0.0083	0.0081	0.0025	0.0077	0.0083	0.0066	0	0.0008	0.0240	0.0089	0.0109	0.0006	0.783	0.03262	T	0.67	0.06305	T	0.004	0.12183	B	0.002	0.06944	B	0.967694	0.08180	N	0.976112	1	0.08975	N	0.11	0.08516	N	4.86	0.01459	T	-0.21	0.10308	N	0.046	0.01825	-0.9040	0.47561	T	0.003	0.00897	T	10	0.0041799545	0.00083	T	.	.	.	0.005	0.00259	.	.	0.27132560031	0.26736	0.1267878899616127	0.12604	0.333250129278	0.35360	0.337313055992	0.16035	T	0.020608	0.16197	T	-0.742702	0.00020	T	-0.833077	0.01209	T	0.000993703736705862	0.00010	T	0.431557	0.11736	T	0.020034153	0.00549	0.029777115	0.01353	0.020034153	0.00549	0.029777115	0.01353	-5.956	0.45909	T	.	.	0.112	0.22061	B	.	.	-0.587247	0.01607	0.109	0.47092030103825411	0.03823	0.03949	0.09349	N	AEFDBI	0.041355	0.06275	N	-1.75872060110767	0.00654	0.02821828	-1.79440240696888	0.00777	0.03466857	0.997609017072097	0.35808	0.700653	0.57754	0	0.577304	0.33150	0	0.717052	0.78885	0	0.491896	0.07777	0	.	.	5.7	-5.04	0.02742	-1.325000	0.02795	-0.901000	0.06991	-1.543000	0.00974	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1129:0.3:0.0:0.5871	7.825	0.28471	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	1	0	0	1	0	1	0	0.02381	1067.98	36	chr21	46411844	.	C	T	1067.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.04;DP=794;ExcessHet=0.0000;FS=1.103;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.71;ReadPosRankSum=2.24;SOR=0.439	GT:AD:DP:GQ:PL	0/1:34,34:68:99:1082,0,998	20	0	1	0
chr22	17120896	17120896	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G232A:p.D78N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.997	D	0.855	P	0.073	U	1.000	N	0.55	N	.	.	-1.077	T	0.096	T	0.058	3.073	16.26	2.97	1.628	3.838	9.185	0.166	0.761054253184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.295	0.20680	T	0.997	0.70673	D	0.855	0.60933	P	0.072886	0.21381	U	0.352176	1	0.81001	D	.	.	.	.	.	.	0.07	0.06138	N	0.136	0.13341	-1.0768	0.07983	T	0.096	0.36055	T	9	0.23576981	0.40644	T	0.761054	0.98103	D	0.166	0.42578	0.102	0.01589	0.341696514166	0.33777	0.10159109705926996	0.10090	.	.	0.946464002132	0.99665	D	0.00739	0.06799	T	-0.221407	0.17801	T	-0.555813	0.16771	T	0.554075896425093	0.34630	D	0.454055	0.12934	T	0.2190354	0.44426	0.22696173	0.47690	0.2190354	0.44426	0.22696173	0.47689	-6.216	0.48053	T	.	.	0.159	0.35247	B	.	.	3.800189	0.54757	23.5	0.99450277576080826	0.65223	0.35678	0.25357	N	AEFDBHCIJ	.	.	.	0.197424543262671	0.51076	3.291744	0.15479848556572	0.47396	2.970525	0.999993669417272	0.74766	0.56387	0.32371	0	0.296712	0.05252	1	0.503968	0.08637	0	0.554799	0.18163	0	.	.	2.97	2.97	0.33479	1.425000	0.34467	6.951000	0.57024	0.272000	0.18543	0.003000	0.16062	1.000000	0.68203	0.961000	0.51904	0.218:0.782:0.0:0.0	9.185	0.36326	994	0.00715	.	.	.	.	.	.	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	37.0	10	chr22	17120896	.	C	T	37.0	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e+00;DP=330;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0261;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=2.85;ReadPosRankSum=2.17;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:11,2:13:51:0|1:17120896_C_T:51,0,454:17120896	20	0	1	0
chr22	17120916	17120916	C	T	exonic	TMEM121B	.	nonsynonymous SNV	TMEM121B:NM_031890:exon1:c.G212A:p.S71N,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	D	0.001	B	0.003	B	0.470	U	1.000	N	0.55	N	.	.	-1.014	T	0.067	T	0.045	1.806	12.00	1.68	0.477	1.393	8.761	0.046	0.63002123976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.308	0.14111	T	0.197	0.27855	T	0.001	0.07471	B	0.003	0.08700	B	0.469546	0.12294	U	0.713845	1	0.81001	D	.	.	.	.	.	.	0.06	0.06253	N	0.109	0.09490	-1.0140	0.25656	T	0.067	0.27606	T	9	0.09371251	0.16605	T	0.630021	0.96820	D	0.046	0.12618	0.147	0.05039	0.18274738541	0.17906	0.22380199092251968	0.22295	.	.	0.941132187843	0.99497	D	0.006822	0.06247	T	-0.316751	0.07167	T	-0.692767	0.06230	T	0.0901065766811371	0.11230	T	0.260474	0.04175	T	0.099947244	0.23594	0.089295894	0.20874	0.099947244	0.23594	0.089295894	0.20873	-6.911	0.53380	T	.	.	0.351	0.56644	A	.	.	3.081834	0.41459	21.4	0.98287155360890854	0.39916	0.12803	0.17489	N	AEFDBHCIJ	.	.	.	-0.5845558346033	0.19414	1.015825	-0.508194408768589	0.21931	1.188707	0.999984464308413	0.51787	0.56387	0.32371	0	0.296712	0.05252	1	0.503968	0.08637	0	0.554799	0.18163	0	.	.	2.73	1.68	0.23219	-0.261000	0.08718	2.206000	0.31328	0.272000	0.18543	0.000000	0.06391	1.000000	0.68203	0.975000	0.56047	0.0:0.8772:0.0:0.1227	8.761	0.33831	994	0.00715	.	.	.	.	.	.	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	39.99	8	chr22	17120916	.	C	T	39.99	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.360e+00;DP=349;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0251;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=3.33;ReadPosRankSum=1.29;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:17120896_C_T:54,0,414:17120896	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	1/1:0,145:145:99:.:.:4387,434,0	3	11	7	0
chr22	19209093	19209093	T	G	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon21:c.A3271C:p.N1091H	.	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	1.0	D	1.0	D	0.000	D	1.000	D	3.085	M	2.08	T	-0.666	T	0.172	T	0.274	3.215	16.77	4.0	1.664	7.166	13.075	0.284	0.00619742318536	.	.	0.0001	0	0.0007	0	0	7.631e-05	0	0.0002	7.12e-05	11	154602	rs782013809	4.264e-05	4.378e-05	3.554e-05	4.982e-05	0.0004	3.394e-05	3.081e-05	0.0002	0.0002	0	0.0004	0.0008	0	0	0.0002	1.444e-05	4.992e-05	7.076e-05	7.227e-05	7.223e-05	7.709e-05	6.724e-05	0.0002	3.971e-05	3.127e-05	1.171e-05	6.25e-06	0	0	6.544e-05	0.0017	0	0	0	4.409e-05	0	0.0002	0.004	0.65419	D	0.008	0.67890	D	0.999	0.90584	D	0.989	0.97372	D	0.000055	0.53742	D	0.121855	1	0.81001	D	3.09	0.87444	M	2.08	0.20255	T	-3.02	0.62630	D	0.681	0.68777	-0.6662	0.62000	T	0.172	0.51468	T	10	0.59089327	0.66374	D	0.006197	0.16259	T	0.284	0.60219	0.666	0.80401	0.512998934155	0.50940	0.6248625478622631	0.62419	.	.	0.512698054314	0.40600	T	0.222285	0.58609	T	-0.329388	0.06158	T	-0.372527	0.36594	T	0.709082067012787	0.41155	D	0.976302	0.91743	D	0.3884883	0.59924	0.31088436	0.57097	0.3884883	0.59924	0.31088436	0.57097	-10.271	0.75519	D	0.3442378810320925	0.44181	0.116	0.23465	B	.;.	.;.	3.331545	0.45867	22.2	0.99652980967967508	0.77442	0.96909	0.71603	D	AEFBI	0.802415	0.72785	D	0.665161182853319	0.77354	6.658519	0.527461910315036	0.69844	5.418743	0.999999997917889	0.74766	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	4.0	4.0	0.45673	7.322000	0.78368	3.284000	0.37253	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.491000	0.28814	0.0:0.0:0.0:1.0	13.075	0.58496	763	0.50172	.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1828.98	35	chr22	19209093	.	T	G	1828.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.040e+00;DP=864;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=12.97;ReadPosRankSum=1.54;SOR=0.716	GT:AD:DP:GQ:PL	0/1:70,71:141:99:1843,0,1817	20	0	1	0
chr22	21216084	21216084	C	T	exonic	GGT2	.	nonsynonymous SNV	GGT2:NM_001351304:exon10:c.G589A:p.G197S,	.	.	708	711	85	18	0	121	0.0784187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025511	664	26028	rs55710139	7.199e-06	1.59e-05	2.859e-06	1.16e-05	2.647e-05	3.64e-06	2.65e-06	2.72e-06	1.75e-06	0	0	0	2.647e-05	0	0	6.546e-06	1.74e-05	1.241e-05	5.682e-05	7.425e-05	5.532e-05	5.84e-05	9.519e-05	2.739e-05	2.062e-05	4.112e-05	2.739e-05	2.491e-05	0	8e-05	0	0	0	0	9.519e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	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	0/1:5,4:9:99:106,0,133	9	0	9	3
chr22	21445760	21445760	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G865A:p.V289I,	.	.	398	1095	29	0	0	29	0.0130689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18	T	0.0	B	0.0	B	0.313	N	1.000	N	1.735	L	2.89	T	-1.007	T	0.015	T	0.084	0.202	5.088	-1.96	-0.028	1.163	4.885	0.032	.	0.0045	0.000798722	0.0040	0.0007	0.0021	0	0.0009	0.0062	0.0108	0.0015	0.0033376	516	154602	rs138601828	0.0039	0.0039	0.0039	0.0039	0.0213	0.0038	0.0038	0.0183	0.0171	0.0013	0.0027	0.0326	0	0.0006	0.0213	0.0036	0.0066	0.0012	0.0030	0.0030	0.0032	0.0028	0.0036	0.0028	0.0027	0.0032	0.0031	0.0010	0	0.0027	0.0303	0	0.0005	0.0204	0.0036	0.0061	0.0010	0.064	0.36509	T	0.472	0.12176	T	0.0	0.02946	B	0.0	0.01387	B	0.312968	0.14401	N	0.699280	1	0.08975	N	0.255	0.09829	N	2.89	0.10196	T	-0.35	0.12847	N	0.064	0.03841	-1.0074	0.27727	T	0.015	0.06282	T	10	0.0022868216	0.00034	T	.	.	.	0.032	0.07718	.	.	0.117191471859	0.11215	0.04514653248244131	0.04458	0.448017709294	0.44648	0.510300815105	0.40265	T	0.022129	0.17114	T	-0.651761	0.00071	T	-0.709131	0.05339	T	0.00099573304214747	0.00010	T	0.463154	0.13467	T	0.04477088	0.07216	0.042352278	0.05024	0.04477088	0.07216	0.042352278	0.05024	-4.759	0.34109	T	.	.	0.106	0.21877	B	.;.;.	.;.;.	0.335655	0.07097	3.667	0.89703002674399623	0.19027	0.10933	0.16293	N	AEFBI	0.047228	0.07929	N	-0.959511898439442	0.09480	0.4488646	-1.00241423907496	0.09732	0.4858989	0.0640159839261247	0.15315	0.695654	0.57023	0	0.653731	0.59785	0	0.723109	0.80598	0	0.491896	0.07777	0	.	.	4.74	-1.96	0.07113	1.176000	0.31566	0.293000	0.16894	-0.134000	0.12905	0.002000	0.15269	0.000000	0.08366	0.223000	0.22544	0.4214:0.0:0.4368:0.1418	4.885	0.13054	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	879.98	39	chr22	21445760	.	G	A	879.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.880e-01;DP=1001;ExcessHet=0.0000;FS=2.263;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=15.17;ReadPosRankSum=-2.350e-01;SOR=0.446	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,37:58:99:0|1:21445753_T_C:894,0,437:21445753	20	0	1	0
chr22	21445988	21445988	G	A	exonic	HIC2	.	nonsynonymous SNV	HIC2:NM_015094:exon3:c.G1093A:p.E365K,	.	.	408	1051	60	3	0	66	0.0304428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8	T	0.842	P	0.321	B	0.000	D	1.000	D	0.805	L	2.87	T	-1.016	T	0.021	T	0.438	1.216	9.936	5.18	2.694	3.939	16.225	0.147	.	.	0.00199681	0.0032	0	0.0004	0	0	0.0020	0.0023	0.0146	0.0020569	318	154602	rs149799345	0.0014	0.0014	0.0011	0.0017	0.0134	0.0013	0.0013	0.0110	0.0101	0.0003	0.0007	0.0179	0	0	0.0134	0.0004	0.0023	0.0106	0.0014	0.0014	0.0013	0.0015	0.0095	0.0012	0.0012	0.0073	0.0066	0.0002	0	0.0005	0.0242	0	0	0.0068	0.0009	0.0019	0.0095	0.045	0.40832	D	0.205	0.27145	T	0.842	0.46562	P	0.321	0.41760	B	0.000087	0.51296	D	0.129540	0.999958	0.52396	D	1.1	0.28011	L	2.87	0.10386	T	-0.61	0.18042	N	0.222	0.25989	-1.0161	0.24980	T	0.021	0.08639	T	10	0.004128903	0.00081	T	.	.	.	0.147	0.38986	.	.	0.221890330934	0.21812	0.18196097492644409	0.18115	0.638735978135	0.57575	0.689908981323	0.65693	T	0.012475	0.10959	T	-0.483591	0.00705	T	-0.458027	0.26816	T	0.0364715312035745	0.03063	T	0.79772	0.44184	T	0.14119413	0.32544	0.14045286	0.33479	0.14119413	0.32544	0.14045286	0.33478	-5.163	0.38563	T	.	.	0.132	0.31456	B	.;.;.	.;.;.	2.863044	0.37831	20.6	0.93165849342801133	0.22820	0.94731	0.62136	D	AEFDBCI	0.391223	0.46975	N	-0.0280916914730184	0.40586	2.412805	0.0229660518386293	0.40784	2.439533	0.999999999996887	0.74766	0.695654	0.57023	0	0.379588	0.06130	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.18	5.18	0.71140	1.798000	0.38449	9.871000	0.82128	0.654000	0.53741	0.969000	0.34210	1.000000	0.68203	0.402000	0.26827	0.0:0.0:1.0:0.0	16.225	0.82106	929	0.16858	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.04762	1304.11	36	chr22	21445988	.	G	A	1304.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.40;DP=912;ExcessHet=0.1072;FS=3.888;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=1.17;SOR=0.392	GT:AD:DP:GQ:PL	0/1:25,10:35:99:247,0,752	19	0	2	0
chr22	22549858	22549858	G	A	exonic	PRAME	.	nonsynonymous SNV	PRAME:NM_001291719:exon3:c.C773T:p.S258F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	T	0.318	B	0.211	B	0.023	N	1.000	N	1.245	L	2.27	T	-1.044	T	0.034	T	0.242	1.319	10.33	2.67	1.123	3.002	7.193	0.033	0.00340503246116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.097	0.39190	T	0.318	0.32936	B	0.211	0.37346	B	0.022812	0.26562	N	0.347372	1	0.08975	N	2.415	0.69758	M	2.27	0.17431	T	-2.83	0.59710	D	0.35	0.39457	-1.0438	0.16177	T	0.034	0.14464	T	10	0.41454202	0.56452	T	0.003405	0.07633	T	0.033	0.08068	0.383	0.40134	0.319402600006	0.31557	0.25225348519405855	0.25139	0.0402635391091	0.04312	0.324460357428	0.14096	T	0.057433	0.30565	T	-0.224051	0.17444	T	-0.55961	0.16414	T	0.511067450046539	0.33037	D	.	.	.	0.078254536	0.17809	0.113543175	0.27403	0.078254536	0.17809	0.113543175	0.27402	-4.578	0.31894	T	.	.	0.184	0.39881	B	.;.;.;.;.	.;.;.;.;.	1.843109	0.23417	16.01	0.94407243020543075	0.24803	0.20629	0.21111	N	AEFBHCI	0.174932	0.30208	N	-0.596352293358764	0.19055	0.9942928	-0.678389564387041	0.17501	0.9308996	0.999915293134154	0.45857	0.553676	0.25195	0	0.588015	0.36545	0	0.563428	0.18855	0	0.530356	0.10902	0	.	.	3.69	2.67	0.30756	2.172000	0.42090	0.445000	0.18464	0.618000	0.50648	0.032000	0.20554	0.000000	0.08366	0.003000	0.05239	0.1235:0.0:0.8765:0.0	7.193	0.25013	976	0.04745	.;.;.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1371.98	37	chr22	22549858	.	G	A	1371.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.24;DP=806;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.86;ReadPosRankSum=-4.180e-01;SOR=0.723	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1386,0,1641	20	0	1	0
chr22	23753091	23753091	C	T	exonic	VPREB3	.	nonsynonymous SNV	VPREB3:NM_013378:exon2:c.G157A:p.G53S,	.	.	419	1100	3	0	0	3	0.00136178	.	.	2360617	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.4	T	1.0	D	0.996	D	0.174	N	1.000	N	0.65	N	-0.01	T	-0.886	T	0.206	T	0.378	2.309	13.68	-0.428	-0.101	1.801	5.119	0.176	0.0359924984112	0.0002	0.000199681	0.0004	0.0002	0	0	0	0.0001	0.0023	0.0023	0.0003234	50	154602	rs143409128	0.0002	0.0002	0.0001	0.0002	0.0015	0.0002	0.0002	0.0013	0.0012	0.0001	4.472e-05	0	0	0	0.0005	9.712e-05	0.0003	0.0015	0.0002	0.0002	0.0002	0.0001	0.0012	0.0001	8.717e-05	0.0005	0.0004	0.0001	0	6.541e-05	0	0	0	0	0.0001	0	0.0012	0.435	0.09401	T	0.417	0.14241	T	1.0	0.90584	D	0.996	0.84481	D	0.174058	0.17290	N	0.488214	1	0.08975	N	1.215	0.30540	L	-0.01	0.62762	T	-1.11	0.37178	N	0.568	0.59138	-0.8862	0.49257	T	0.206	0.56499	T	10	0.021933079	0.00535	T	0.035992	0.56708	D	0.176	0.44373	.	.	0.385743280973	0.38186	0.553284428901292	0.55254	0.196269210227	0.21979	0.517935812473	0.41335	T	0.049287	0.28264	T	-0.376014	0.03301	T	-0.326124	0.41899	T	0.0165835711559544	0.00419	T	0.0208979	0.01454	T	0.08395443	0.19409	0.06794681	0.14126	0.08395443	0.19409	0.06794681	0.14125	-3.101	0.11308	T	.	.	0.158	0.44345	B	.;.	.;.	3.889222	0.56581	23.8	0.95996680346787922	0.28403	0.14417	0.18392	N	AEFDGBHCI	0.174478	0.30161	N	-0.568387767822885	0.19911	1.045742	-0.745591131662381	0.15830	0.8345335	0.99997998095744	0.50053	0.646311	0.45356	0	0.601644	0.50151	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.57	-0.428	0.11693	1.959000	0.40036	3.109000	0.36352	0.597000	0.34315	0.004000	0.16614	0.986000	0.30841	0.549000	0.30150	0.2417:0.458:0.234:0.0662	5.119	0.14182	976	0.04745	Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain;Immunoglobulin V-set domain|Immunoglobulin-like domain|Immunoglobulin V-set domain|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	0.02381	1747.98	34	chr22	23753091	.	C	T	1747.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-3.680e-01;DP=839;ExcessHet=0.0000;FS=1.490;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=-1.910e-01;SOR=0.552	GT:AD:DP:GQ:PL	0/1:59,67:126:99:1762,0,1566	20	0	1	0
chr22	23765457	23765457	G	A	exonic	C22orf15	.	nonsynonymous SNV	C22orf15:NM_001376903:exon5:c.G421A:p.G141R,	.	.	425	1055	41	1	0	43	0.0199721	0.0388	0.148	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	D	1.0	D	0.989	D	.	.	1.000	N	.	.	.	.	-1.020	T	0.034	T	0.128	3.138	16.49	2.24	0.967	2.177	6.529	0.032	.	.	0.00439297	0.0133	0	0	0	0	0.0161	0.0096	0.0172	0.0025614	396	154602	rs118072813	0.0075	0.0072	0.0071	0.0080	0.0179	0.0074	0.0074	0.0165	0.0162	0.0009	0.0035	0.0204	0	0.0009	0.0179	0.0073	0.0083	0.0173	0.0049	0.0049	0.0050	0.0048	0.0159	0.0046	0.0045	0.0131	0.0120	0.0013	0.0088	0.0033	0.0210	0.0002	0.0003	0.0068	0.0068	0.0071	0.0159	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.989	0.78396	D	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	0.75	0.02007	N	0.185	0.20129	-1.0202	0.23649	T	0.034	0.14552	T	7	0.003980577	0.00077	T	0.005023	0.12690	T	0.123	0.34020	0.23	0.15705	0.180583059064	0.17676	.	.	.	.	.	.	.	.	.	.	-0.46172	0.00959	T	-0.421725	0.30877	T	0.0650722298416421	0.07942	T	0.520648	0.16939	T	.	.	.	.	.	.	.	.	-3.358	0.14497	T	.	.	0.169	0.37216	B	.	.	3.789766	0.54539	23.5	0.99848068375335886	0.92750	0.93845	0.59357	D	AEFDBHCI	0.264985	0.38221	N	-0.0526188822189248	0.39485	2.329274	-0.0561549082266573	0.37225	2.176699	0.99999999998708	0.74766	0.536635	0.22144	0	0.405561	0.06353	1	0.489635	0.07774	0	0.562822	0.20929	0	.	.	3.26	2.24	0.27264	2.197000	0.42329	1.175000	0.24653	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.1331:0.0:0.8669:0.0	6.529	0.21518	976	0.04745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02381	1267.98	33	chr22	23765457	.	G	A	1267.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-4.000e-01;DP=840;ExcessHet=0.0000;FS=1.441;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.14;ReadPosRankSum=-3.200e-01;SOR=0.569	GT:AD:DP:GQ:PL	0/1:75,50:125:99:1282,0,2270	20	0	1	0
chr22	30461658	30461658	C	G	exonic	SEC14L3	.	nonsynonymous SNV	SEC14L3:NM_174975:exon10:c.G808C:p.V270L	.	.	432	1080	10	0	0	10	0.00460829	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.001	B	0.000	D	1.000	D	-0.24	N	1.81	T	-1.049	T	0.027	T	0.306	2.410	14.02	4.94	2.824	3.713	11.570	0.078	.	0.0100	0.0091853	0.0039	0.0272	0.0037	0	0	0.0021	0.0049	0.0002	0.0037386	578	154602	rs114917409	0.0022	0.0022	0.0023	0.0021	0.0289	0.0021	0.0021	0.0274	0.0267	0.0289	0.0048	0.0100	0	7.531e-05	0.0148	0.0012	0.0057	0.0002	0.0088	0.0088	0.0092	0.0083	0.0255	0.0084	0.0082	0.0242	0.0237	0.0255	0	0.0091	0.0118	0	0	0.0170	0.0011	0.0080	0	0.849	0.02746	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000001	0.62929	D	0.057245	0.999998	0.58761	D	-0.345	0.03330	N	0.31	0.58613	T	-0.56	0.17003	N	0.735	0.73555	-1.0491	0.14649	T	0.027	0.11663	T	10	0.008301944	0.00188	T	.	.	.	0.078	0.22779	0.492	0.57890	0.51880533489	0.51525	0.354047608614421	0.35318	0.124429324764	0.14008	0.551303803921	0.46041	T	0.007573	0.06968	T	-0.481758	0.00722	T	-0.445192	0.28229	T	0.00762017556866538	0.00089	T	0.814719	0.46890	T	0.2970276	0.52636	0.16573685	0.38325	0.2970276	0.52636	0.16573685	0.38324	-0.98	0.00978	T	.	.	0.191	0.40968	B	.;.;.;.;.	.;.;.;.;.	2.013231	0.25586	16.81	0.98109927242421657	0.38343	0.98818	0.87255	D	AEFBI	0.497750	0.53214	N	-0.310653764955379	0.28743	1.587896	-0.0307619325477468	0.38332	2.256919	0.999765746221878	0.42728	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.95	4.94	0.64645	3.799000	0.55233	-0.292000	0.10184	0.599000	0.40250	0.998000	0.41325	0.000000	0.08366	0.928000	0.46473	0.0:0.8644:0.0:0.1356	11.570	0.50083	339	0.86048	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	1091.98	39	chr22	30461658	.	C	G	1091.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=4.94;DP=918;ExcessHet=0.0000;FS=1.718;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.21;ReadPosRankSum=0.696;SOR=0.963	GT:AD:DP:GQ:PL	0/1:68,39:107:99:1106,0,1715	20	0	1	0
chr22	31893731	31893731	G	A	exonic	DEPDC5	.	nonsynonymous SNV	DEPDC5:NM_001242897:exon36:c.G3883A:p.A1295T	Epilepsy, familial focal, with variable foci 1, Autosomal dominant	.	429	1090	3	0	0	3	0.00137426	.	.	574118	not_provided|Inborn_genetic_diseases|Familial_focal_epilepsy_with_variable_foci	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020310,MedGen:C1858477,OMIM:PS604364,Orphanet:98820	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.08	T	1.0	D	0.996	D	0.000	D	1.000	D	1.5	L	1.59	T	-0.775	T	0.228	T	0.839	4.444	23.7	4.1	1.143	6.343	14.173	0.239	0.0233677778124	.	.	4.255e-05	0	0.0002	0	0	4.558e-05	0	0	3.88e-05	6	154602	rs764462476	3.984e-05	4.173e-05	3.828e-05	4.142e-05	0.0003	3.126e-05	2.858e-05	0.0001	9.502e-05	6.039e-05	0.0002	0	0	0	0.0003	2.613e-05	0.0001	9.385e-05	4.601e-05	4.597e-05	3.855e-05	5.382e-05	6.545e-05	2.11e-05	1.527e-05	1.171e-05	6.25e-06	4.827e-05	0	6.545e-05	0	0	0	0	4.41e-05	0.0005	0	0.005	0.63226	D	0.038	0.51421	D	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.060252	0.999997	0.81001	D	1.935	0.51832	L	1.15	0.38236	T	-2.09	0.49187	N	0.552	0.75650	-0.7749	0.56587	T	0.228	0.59309	T	10	0.28142154	0.45719	T	0.023368	0.46327	T	0.251	0.56024	.	.	0.301078425253	0.29709	.	.	2.38724322197	0.97073	0.771933138371	0.77715	T	0.05929	0.31076	T	-0.0285185	0.47632	T	-0.00444166	0.70048	D	0.19173501431942	0.19946	T	0.932107	0.74696	D	0.29082054	0.52068	0.2460058	0.50100	0.29082054	0.52068	0.2460058	0.50099	-6.307	0.49307	T	0.5739794622821409	0.64101	0.297	0.60571	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.584366	0.50547	23.0	0.9992106418223643	0.98787	0.97211	0.73346	D	AEFDGBI	0.628971	0.61086	D	0.0833745978602639	0.45687	2.821164	0.0729893076905297	0.43195	2.62639	0.999999979119711	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.674467	0.66132	0	.	.	5.12	4.1	0.47196	6.460000	0.73433	8.539000	0.77485	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.854000	0.40426	0.0:0.0:0.8495:0.1505	14.173	0.65059	219	0.91485	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	1026.98	34	chr22	31893731	.	G	A	1026.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.410e-01;DP=780;ExcessHet=0.0000;FS=1.894;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=13.00;ReadPosRankSum=3.28;SOR=0.479	GT:AD:DP:GQ:PL	0/1:40,39:79:99:1041,0,1021	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	0/1:42,69:111:99:2052,0,1186	18	0	3	0
chr22	36265156	36265156	A	T	exonic	APOL1	.	nonsynonymous SNV	APOL1:NM_001136541:exon5:c.A266T:p.E89V	.	.	0	1513	9	0	0	9	0.0029654	.	.	1052133	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.05	D	0.999	D	0.966	D	0.040	N	0.970	N	2.475	M	3.59	T	-1.141	T	0.040	T	0.422	2.217	13.37	2.35	1.328	1.892	6.685	0.063	0.00270230265822	.	.	4.98e-05	0	0	0	0	4.527e-05	0	0.0002	3.88e-05	6	154602	rs780653482	2.121e-05	2.121e-05	1.361e-05	2.888e-05	0.0010	1.52e-05	1.324e-05	0.0005	0.0003	0	0	0	0	0	0.0010	7.194e-06	1.656e-05	0.0002	6.571e-06	6.566e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.001	0.78490	D	0.002	0.79402	D	0.999	0.77913	D	0.966	0.71341	D	0.039826	0.24126	N	0.423635	1	0.25743	N	2.305	0.65957	M	3.59	0.04544	T	-6.27	0.90648	D	0.15	0.21188	-1.1411	0.01318	T	0.040	0.17362	T	10	0.63143617	0.68539	D	0.002702	0.05550	T	0.063	0.18251	0.746	0.87738	0.572623985369	0.56930	0.3563416701615257	0.35548	0.385980496119	0.39890	0.401006579399	0.25209	T	0.052976	0.29314	T	-0.293915	0.09247	T	-0.423296	0.30697	T	0.709237813949585	0.41163	D	0.743426	0.36288	T	0.3042759	0.53285	0.271764	0.53080	0.3042759	0.53285	0.271764	0.53079	-6.948	0.57835	T	.	.	0.502	0.64740	A	.;.;.;.;.;.	.;.;.;.;.;.	2.902462	0.38477	20.7	0.98812826847654978	0.46655	0.49724	0.28499	N	AEFBI	0.203841	0.33032	N	0.0192535934745214	0.42730	2.580204	-0.220310951671899	0.30808	1.737902	0.94924029317975	0.27837	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.683762	0.67416	0	.	.	2.35	2.35	0.28166	1.869000	0.39156	7.039000	0.57330	0.560000	0.28382	0.375000	0.25965	0.876000	0.27648	0.004000	0.06068	1.0:0.0:0.0:0.0	6.685	0.22331	503	0.75780	.;.;.;.;.;.	.	.	.	.	.	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	1394.98	78	chr22	36265156	.	A	T	1394.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-2.114e+00;DP=1328;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=14.23;ReadPosRankSum=1.69;SOR=0.671	GT:AD:DP:GQ:PL	0/1:45,53:98:99:1409,0,1239	20	0	1	0
chr22	36871659	36871659	G	A	exonic	NCF4	.	nonsynonymous SNV	NCF4:NM_000631:exon6:c.G478A:p.V160M	.	.	0	1502	20	0	0	20	0.00661376	.	.	352521	Granulomatous_disease,_chronic,_autosomal_recessive,_cytochrome_b-positive,_type_3|not_provided|NCF4-related_disorder|not_specified	MONDO:MONDO:0013507,MedGen:C3151409,OMIM:613960,Orphanet:379|MedGen:C3661900|.|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.12	T	0.283	B	0.018	B	0.765	N	1.000	N	1.24	L	1.07	T	-0.991	T	0.125	T	0.051	0.898	8.648	-1.66	-0.065	0.180	7.957	0.017	.	0.0008	0.00139776	0.0049	0.0016	0	0.0119	0	0.0023	0.0046	0.0089	0.0012548	194	154602	rs150103256	0.0011	0.0011	0.0009	0.0013	0.0068	0.0011	0.0011	0.0063	0.0062	0.0002	0.0004	0.0034	0.0032	7.96e-05	0.0040	0.0006	0.0023	0.0068	0.0012	0.0012	0.0011	0.0014	0.0101	0.0011	0.0010	0.0079	0.0071	0.0004	0	0.0012	0.0046	0.0027	9.414e-05	0.0034	0.0009	0.0028	0.0101	0.209	0.25355	T	0.238	0.29153	T	0.122	0.26746	B	0.005	0.11217	B	0.765414	0.06565	N	1.132340	1	0.08975	N	-0.205	0.04094	N	1.07	0.58468	T	-0.5	0.15782	N	0.117	0.10626	-0.9911	0.32321	T	0.125	0.42883	T	10	0.003737539	0.00069	T	.	.	.	0.017	0.02790	.	.	0.534620942121	0.53112	0.2759971034556951	0.27512	0.175934184844	0.19809	0.389452517033	0.23592	T	0.023979	0.35768	T	-0.614211	0.00119	T	-0.650202	0.08940	T	0.00110288350147505	0.00011	T	0.482752	0.14626	T	0.016196107	0.00182	0.028450185	0.01083	0.018778292	0.00400	0.030498138	0.01512	-4.987	0.38170	T	0.167550838305845	0.20899	0.083	0.14523	B	.;.;.	.;.;.	0.891438	0.12651	9.174	0.83963086124445818	0.15019	0.03110	0.08046	N	AEFDBCI	0.057557	0.10732	N	-1.18311970823905	0.05255	0.239131	-1.26311506601942	0.04939	0.2342071	0.998763451817873	0.37623	0.706548	0.73137	0	0.724815	0.89359	0	0.615948	0.41167	0	0.542086	0.14980	0	.	.	4.17	-1.66	0.07824	0.069000	0.14419	-0.168000	0.11254	-1.765000	0.00671	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.6357:0.0:0.3643:0.0	7.957	0.29211	758	0.50837	.;.;.	.	.	.	.	.	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	1768.11	64	chr22	36871659	.	G	A	1768.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=-5.820e-01;DP=808;ExcessHet=0.1072;FS=2.197;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.19;ReadPosRankSum=1.59;SOR=0.568	GT:AD:DP:GQ:PL	0/1:33,37:70:99:886,0,877	19	0	2	0
chr22	37510307	37510307	-	CTCCTT	exonic	CARD10	.	nonframeshift insertion	CARD10:NM_014550:exon4:c.813_814insAAGGAG:p.E273_P274insKE,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	16961.64	74	chr22	37510301	.	GCTCCTT	G,GCTCCTTCTCCTT	16961.64	.	AC=9,1;AF=0.214,0.024;AN=42;BaseQRankSum=-1.560e-01;DP=1329;ExcessHet=0.2067;FS=0.550;InbreedingCoeff=0.2125;MLEAC=9,1;MLEAF=0.214,0.024;MQ=60.00;MQRankSum=0.00;QD=27.36;ReadPosRankSum=0.379;SOR=0.644	GT:AD:DP:GQ:PL	0/1:31,33,0:64:99:1294,0,1190,1388,1291,2679	13	1	6	0
chr22	37927690	37927690	C	G	exonic	MICALL1	.	nonsynonymous SNV	MICALL1:NM_033386:exon9:c.C1745G:p.A582G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	T	0.58	P	0.142	B	0.091	N	1.000	N	1.87	L	1.87	T	-0.918	T	0.185	T	0.117	1.520	11.03	3.57	0.912	1.774	14.587	0.052	0.0170867135793	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.44694	D	0.115	0.36630	T	0.58	0.38813	P	0.142	0.33681	B	0.090796	0.20358	N	0.408346	1	0.08975	N	1.79	0.46772	L	0.55	0.54728	T	-1.22	0.30964	N	0.087	0.06454	-0.9180	0.45824	T	0.185	0.53496	T	10	0.115570694	0.21777	T	0.017087	0.38644	T	0.062	0.17934	0.077	0.00572	0.699821692763	0.69722	0.22705963929309095	0.22620	0.223941503005	0.24908	0.399451434612	0.24992	T	0.011907	0.10552	T	-0.197594	0.21152	T	-0.521607	0.20132	T	0.192171531156108	0.19971	T	0.691931	0.30130	T	0.10084167	0.23816	0.11198782	0.27018	0.10084167	0.23815	0.11198782	0.27018	-3.9	0.22303	T	.	.	0.082	0.08802	B	.	.	0.869318	0.12421	8.956	0.98558937557221382	0.42948	0.63035	0.31964	D	AEFDBI	0.085694	0.17372	N	-0.244693437871359	0.31315	1.754709	-0.339928358736389	0.26821	1.484085	0.986509899987365	0.31075	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.61	3.57	0.40014	1.314000	0.33202	0.194000	0.15776	0.596000	0.33519	0.054000	0.21560	0.000000	0.08366	0.293000	0.24333	0.0:0.8528:0.1472:0.0	14.587	0.67926	862	0.33134	.	.	.	.	.	.	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	655.98	35	chr22	37927690	.	C	G	655.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=-1.409e+00;DP=793;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.58;ReadPosRankSum=-5.310e-01;SOR=0.739	GT:AD:DP:GQ:PL	0/1:34,28:62:99:670,0,986	20	0	1	0
chr22	41127532	41127532	C	G	exonic	EP300	.	nonsynonymous SNV	EP300:NM_001362843:exon4:c.C952G:p.P318A	Colorectal cancer, somatic;Rubinstein-Taybi syndrome 2, Autosomal dominant	.	1	1520	1	0	0	1	0.000328839	.	.	215600	not_provided|not_specified|Rubinstein-Taybi_syndrome_due_to_EP300_haploinsufficiency|EP300-related_disorder	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013364,MedGen:C3150941,OMIM:613684,Orphanet:353284,Orphanet:783|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.9	T	0.024	B	0.035	B	0.037	N	0.764	D	0.895	L	-1.64	D	-0.760	T	0.270	T	0.14	1.547	11.13	3.73	2.857	1.306	3.111	0.213	0.0135464453857	.	.	2.488e-05	0	0	0	0	4.537e-05	0	0	2.59e-05	4	154602	rs762647727	2.941e-05	2.941e-05	2.995e-05	2.888e-05	0.0014	2.216e-05	1.97e-05	0.0007	0.0005	2.987e-05	0.0002	0	0	0	0.0014	2.248e-05	3.311e-05	0	2.628e-05	2.627e-05	2.569e-05	2.69e-05	5.879e-05	8.14e-06	5.14e-06	1.972e-05	1.124e-05	0	0	0	0	0	0	0	5.879e-05	0	0	0.258	0.16683	T	0.311	0.19660	T	0.024	0.19075	B	0.035	0.22741	B	0.036531	0.24511	N	0.285984	0.763547	0.34067	D	-0.46	0.02758	N	-1.64	0.82533	D	-0.4	0.13805	N	0.155	0.16028	-0.7600	0.57405	T	0.270	0.64120	T	10	0.09916365	0.17978	T	0.013546	0.33038	T	0.213	0.50496	0.354	0.35408	0.763884886649	0.76173	0.10021698192741767	0.09952	.	.	0.409803628922	0.26429	T	0.346567	0.71481	T	-0.227369	0.16998	T	-0.367405	0.37192	T	0.0263589149251819	0.01455	T	0.732627	0.34815	T	0.02828497	0.02142	0.03386253	0.02353	0.02828497	0.02141	0.03386253	0.02353	-3.7	0.19318	T	.	.	0.050	0.00139	B	.	.	1.700779	0.21666	15.30	0.8864165022712267	0.18137	0.59109	0.30825	D	AEFDBI	0.055416	0.10160	N	-0.244558909713806	0.31322	1.755068	-0.0297940509438442	0.38375	2.260057	0.647188588158773	0.22120	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.02	3.73	0.41982	1.509000	0.35387	1.348000	0.25786	0.599000	0.40250	0.924000	0.32081	0.788000	0.26838	0.991000	0.66497	0.2411:0.415:0.2577:0.0861	3.111	0.05977	289	0.88525	.	.	.	.	.	.	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	1	0	0.02381	1278.98	33	chr22	41127532	.	C	G	1278.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.19;DP=764;ExcessHet=0.0000;FS=0.926;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=16.19;ReadPosRankSum=1.55;SOR=0.929	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1293,0,936	20	0	1	0
chr22	42619789	42619789	C	T	exonic	CYB5R3	.	nonsynonymous SNV	CYB5R3:NM_000398:exon9:c.G890A:p.R297H	Methemoglobinemia, type I, Autosomal recessive;Methemoglobinemia, type II, Autosomal recessive	.	1	1463	55	3	0	61	0.0204218	.	.	682758	not_provided|Neurodevelopmental_delay|CYB5R3-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0012758,MedGen:C4022738|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.12	T	0.991	D	0.523	P	0.113	N	0.998	D	1.205	L	-3.59	D	0.235	D	0.703	D	0.303	3.423	17.57	1.82	1.079	0.396	6.587	0.319	.	0.0022	0.00119808	0.0040	0.0014	0.0022	0	0	0.0037	0.0149	0.0073	0.0016494	255	154602	rs76458556	0.0023	0.0023	0.0021	0.0025	0.0153	0.0022	0.0022	0.0128	0.0118	0.0005	0.0014	0.0007	0	6.285e-05	0.0153	0.0022	0.0024	0.0068	0.0016	0.0016	0.0015	0.0017	0.0054	0.0014	0.0014	0.0038	0.0032	0.0005	0.0022	0.0011	0.0003	0	0.0002	0.0068	0.0025	0.0019	0.0054	0.077	0.34095	T	0.087	0.40747	T	0.084	0.24799	B	0.016	0.17743	B	0.113182	0.19326	N	0.434279	0.998303	0.44746	D	1.25	0.31749	L	-3.59	0.94975	D	-1.94	0.45042	N	0.111	0.32921	0.235	0.86489	D	0.703	0.89764	D	10	0.007664025	0.00174	T	.	.	.	0.319	0.64112	.	.	0.960624261791	0.96019	0.6007211945832572	0.60003	0.0434582521418	0.04681	0.357403516769	0.19007	T	0.117295	0.43728	T	-0.244098	0.14831	T	-0.120517	0.61760	T	0.0289255598202967	0.01825	T	0.840716	0.51609	T	0.09107395	0.21330	0.07129316	0.15248	0.14577486	0.33399	0.059444956	0.11156	-7.29	0.56124	T	.	.	0.082	0.19316	B	.;.;.;.;.	.;.;.;.;.	2.354933	0.30199	18.36	0.99866928314332859	0.94457	0.78552	0.38772	D	AEFDBCI	0.364338	0.45291	N	-0.13187722446818	0.36009	2.075726	-0.0963347161300037	0.35541	2.057451	0.999798002284709	0.43153	0.706548	0.73137	0	0.702456	0.74545	0	0.786243	0.99158	0	0.714379	0.83352	0	.	.	4.09	1.82	0.24209	1.193000	0.31771	0.542000	0.19343	-0.270000	0.06752	1.000000	0.71638	0.997000	0.33255	0.838000	0.39538	0.225:0.6724:0.0:0.1026	6.587	0.21822	255	0.89985	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	951.98	33	chr22	42619789	.	C	T	951.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=1.25;DP=809;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=10.02;ReadPosRankSum=-6.410e-01;SOR=0.735	GT:AD:DP:GQ:PL	0/1:55,40:95:99:966,0,1284	20	0	1	0
chr22	49884936	49884936	C	T	exonic	ZBED4	.	nonsynonymous SNV	ZBED4:NM_014838:exon2:c.C1274T:p.A425V,	.	.	426	1039	54	3	0	60	0.0280636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.74	T	0.0	B	0.0	B	0.626	N	1.000	N	-1.245	N	0.97	T	-0.993	T	0.018	T	0.034	-2.065	0.006	-3.87	-1.067	-0.431	6.952	0.010	.	0.0036	0.00399361	0.0050	0.0012	0.0048	0	0.0014	0.0052	0.0112	0.0108	0.0047606	736	154602	rs146411541	0.0044	0.0044	0.0040	0.0047	0.0234	0.0043	0.0042	0.0202	0.0190	0.0013	0.0044	0.0203	5.043e-05	0.0007	0.0234	0.0037	0.0067	0.0105	0.0037	0.0037	0.0036	0.0038	0.0104	0.0034	0.0033	0.0081	0.0073	0.0010	0	0.0053	0.0196	0	0.0014	0.0102	0.0043	0.0071	0.0104	0.639	0.05017	T	0.486	0.11691	T	0.0	0.02946	B	0.0	0.01387	B	0.625807	0.10734	N	0.810413	1	0.08975	N	-1.39	0.00611	N	0.97	0.42502	T	-0.11	0.08653	N	0.043	0.01577	-0.9929	0.31853	T	0.018	0.07329	T	10	0.002109021	0.00030	T	.	.	.	0.010	0.01040	.	.	0.043077524339	0.03247	0.14576151107688307	0.14499	0.416527251118	0.42292	0.305198401213	0.11181	T	0.022249	0.17186	T	-0.703328	0.00035	T	-0.775382	0.02595	T	0.000719385774239782	0.00007	T	0.331767	0.06954	T	0.012989459	0.00046	0.023819037	0.00395	0.012989459	0.00046	0.023819037	0.00395	-3.132	0.11668	T	.	.	0.064	0.01577	B	.	.	-0.973239	0.00810	0.027	0.27354374797518821	0.01354	0.00434	0.02127	N	AEFBI	0.015799	0.00319	N	-1.86894502346642	0.00397	0.01708544	-1.83612183965624	0.00650	0.02891738	0.935458911534085	0.27214	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	4.6	-3.87	0.03939	-0.396000	0.07338	-1.679000	0.04930	-1.577000	0.00925	0.001000	0.13787	0.000000	0.08366	0.029000	0.12982	0.0:0.38:0.1225:0.4976	6.952	0.23732	974	0.05496	.	.	.	.	.	.	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	3140.11	107	chr22	49884936	.	C	T	3140.11	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.213;DP=2031;ExcessHet=0.1072;FS=0.481;InbreedingCoeff=-0.0500;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=13.59;ReadPosRankSum=-7.410e-01;SOR=0.653	GT:AD:DP:GQ:PL	0/1:59,65:124:99:1683,0,1553	19	0	2	0
chr22	49922304	49922304	C	0	exonic	CRELD2	.	.	.	.	.	445	520	288	49	220	606	0.270687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4048	17831.26	36	chr22	49922304	.	C	T,*	17831.26	.	AC=10,8;AF=0.238,0.190;AN=42;BaseQRankSum=2.03;DP=1611;ExcessHet=1.2156;FS=0.561;InbreedingCoeff=0.0278;MLEAC=10,8;MLEAF=0.238,0.190;MQ=60.00;MQRankSum=0.00;QD=13.87;ReadPosRankSum=0.644;SOR=0.655	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,51,0:103:99:0|1:49922276_G_T:1874,0,1705,2031,1858,3889:49922276	7	1	7	0
chr22	50503527	50503527	G	A	exonic	LMF2	.	nonsynonymous SNV	LMF2:NM_001363816:exon14:c.C1913T:p.S638F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	D	0.925	P	0.568	P	0.254	N	1.000	N	1.78	L	1.86	T	-1.020	T	0.135	T	0.28	2.564	14.53	3.25	0.726	0.941	7.729	0.061	0.0146277664809	.	.	3.47e-05	0	0	0	0	4.088e-05	0	8.358e-05	2.59e-05	4	154602	rs747486508	2.185e-05	2.531e-05	1.678e-05	2.7e-05	0.0011	1.566e-05	1.364e-05	0.0005	0.0003	3.193e-05	0.0001	0	0	0	0.0011	1.462e-05	0	4.93e-05	1.972e-05	1.97e-05	1.285e-05	2.691e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.415e-05	0	0	0	0	0	0	2.941e-05	0	0	0.01	0.56456	D	0.046	0.49390	D	0.877	0.51395	P	0.365	0.49807	B	0.253710	0.03663	N	1.554520	1	0.08975	N	1.895	0.50365	L	1.86	0.24472	T	-1.2	0.30555	N	0.158	0.19995	-1.0201	0.23682	T	0.135	0.45010	T	10	0.14326912	0.27203	T	0.014628	0.34872	T	0.061	0.17616	0.26	0.20315	0.0551355673512	0.04727	0.24701235341663358	0.24615	.	.	0.393734276295	0.24194	T	0.020325	0.16021	T	-0.36382	0.03918	T	-0.49595	0.22769	T	0.0585390529944014	0.06937	T	0.589041	0.21605	T	0.047969166	0.08288	0.07099088	0.15149	0.047969166	0.08287	0.07099088	0.15149	-6.514	0.50394	T	.	.	0.113	0.22391	B	.;.	.;.	2.077095	0.26416	17.11	0.9958770382110812	0.73395	0.08468	0.14393	N	AEFBI	0.119040	0.23251	N	-0.270973116503605	0.30274	1.68651	-0.423969893173597	0.24297	1.329671	0.998231339248184	0.36618	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.36	3.25	0.36363	0.666000	0.24779	2.515000	0.33093	0.676000	0.76740	0.001000	0.13787	0.082000	0.22400	0.015000	0.10482	0.0883:0.1641:0.7476:0.0	7.729	0.27944	726	0.54788	.;.	.	.	.	.	.	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	1051.98	34	chr22	50503527	.	G	A	1051.98	.	AC=1;AF=0.024;AN=42;BaseQRankSum=2.87;DP=774;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=-0.0244;MLEAC=1;MLEAF=0.024;MQ=60.00;MQRankSum=0.00;QD=17.53;ReadPosRankSum=-2.170e-01;SOR=0.681	GT:AD:DP:GQ:PL	0/1:25,35:60:99:1066,0,602	20	0	1	0
chrX	7843976	7843976	C	0	exonic	VCX	.	.	.	.	.	638	189	366	281	48	976	0.710567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:205,174,0,0:379:99:.:.:3787,0,4714,4401,5235,9635,4401,5235,9635,9635	0	8	6	4
chrX	7843976	7843976	-	AGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	exonic	VCX	.	frameshift insertion	VCX:NM_013452:exon3:c.581_582insAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT:p.S195Gfs*73,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.875e-05	0.0002	0	0	0	0	0	0	.	.	.	.	3.738e-06	8.672e-06	5.615e-06	0	6.53e-05	6.2e-07	2.3e-07	.	.	0	6.53e-05	0	0	0	0	2.552e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7353	86037.69	422	chrX	7843976	.	C	T,*,CAGGAGAGCGAGATGGAGGAACCACTGAGTCAGGAGAGCCAGGTGGAGGAACCACT	86037.69	.	AC=25,2,1;AF=0.735,0.059,0.029;AN=34;BaseQRankSum=2.89;DP=5914;ExcessHet=0.7503;FS=2.774;InbreedingCoeff=0.0476;MLEAC=29,2,1;MLEAF=0.853,0.059,0.029;MQ=49.09;MQRankSum=-9.050e+00;QD=21.65;ReadPosRankSum=1.63;SOR=0.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:205,174,0,0:379:99:.:.:3787,0,4714,4401,5235,9635,4401,5235,9635,9635	0	8	6	4
chrX	8466215	8466215	A	0	exonic	VCX3B	.	.	.	.	.	689	655	115	37	26	215	0.126084	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	1398.21	85	chrX	8466215	.	A	G,*	1398.21	.	AC=5,1;AF=0.167,0.033;AN=30;BaseQRankSum=2.45;DP=1427;ExcessHet=0.0018;FS=4.360;InbreedingCoeff=0.3447;MLEAC=6,1;MLEAF=0.200,0.033;MQ=41.78;MQRankSum=0.800;QD=4.48;ReadPosRankSum=-5.270e-01;SOR=0.973	GT:AD:DP:GQ:PL	1/1:0,8,0:8:24:284,24,0,284,24,284	11	2	1	6
chrX	10469688	10469688	G	A	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294T:p.L432F	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.822e-06	1.821e-06	1.361e-06	2.752e-06	1.847e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.188e-06	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.06	0.03175	.	.	.	.	.	.	.	0.049869597	0.04636	T	.	.	.	.	.	.	.	0.228066490088	0.22430	.	.	.	.	.	.	.	0.006829	0.06256	T	-0.218282	0.18229	T	-0.551324	0.17198	T	.	.	.	0.334067	0.07092	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.144	0.31708	B	.	.	1.071713	0.14539	11.11	0.85981199067195402	0.16236	0.02091	0.06209	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,22,0:91:99:0|1:10469688_G_A:436,0,2357,640,2421,3061:10469688	10	0	10	0
chrX	10469688	10469688	G	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.C1294G:p.L432V	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.122	0.35710	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.066	0.03841	.	.	.	.	.	.	.	0.056298643	0.06289	T	.	.	.	.	.	.	.	0.327401308167	0.32341	.	.	.	.	.	.	.	0.002243	0.01642	T	-0.246398	0.14543	T	-0.59171	0.13519	T	.	.	.	0.329867	0.06895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.20391	B	.	.	2.708854	0.35399	19.89	0.75207624297957498	0.10986	0.17709	0.19954	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999612355279754	0.40981	.	.	.	.	.	.	.	.	.	.	.	.	0.283609	0.34178	4.85	0.652	0.16995	0.121000	0.15496	0.832000	0.21958	0.676000	0.76740	0.066000	0.21956	0.096000	0.22607	0.995000	0.73285	0.4727:0.0:0.3766:0.1507	5.068	0.13928	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2619	2843.69	154	chrX	10469688	.	G	A,C	2843.69	.	AC=10,1;AF=0.238,0.024;AN=42;BaseQRankSum=-4.097e+00;DP=2076;ExcessHet=7.7275;FS=136.517;InbreedingCoeff=-0.3621;MLEAC=10,1;MLEAF=0.238,0.024;MQ=60.00;MQRankSum=0.00;QD=2.08;ReadPosRankSum=0.424;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,22,0:91:99:0|1:10469688_G_A:436,0,2357,640,2421,3061:10469688	10	0	10	0
chrX	10469690	10469690	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1292G:p.Y431C	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	0.0842	0.246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0089	0.0017	0	0.0014	0.0011	0.0011	0.0013	0.0013	0.0011	5.717e-05	0.0005	0.0003	0	0	0.0014	0.0011	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.69154	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.611	0.62781	.	.	.	.	.	.	.	0.5160695	0.62373	D	.	.	.	.	.	.	.	0.702451314445	0.69986	.	.	.	.	.	.	.	0.029078	0.20915	T	-0.0458167	0.45080	T	-0.303589	0.44343	T	.	.	.	0.416058	0.10924	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	0.48469	B	.	.	1.822216	0.23154	15.91	0.93045119261725329	0.22651	0.71697	0.35125	D	AEFBI	.	.	.	.	.	.	.	.	.	0.99999824567079	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.483522	0.39157	5.6	5.6	0.84997	3.630000	0.54014	4.911000	0.45953	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0763:0.0:0.9237	10.887	0.46181	505	0.75648	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.2895	2549.41	154	chrX	10469690	.	T	C	2549.41	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.832e+00;DP=2194;ExcessHet=7.7275;FS=128.174;InbreedingCoeff=-0.4080;MLEAC=12;MLEAF=0.316;MQ=60.00;MQRankSum=0.00;QD=1.85;ReadPosRankSum=0.463;SOR=11.234	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,22:93:99:0|1:10469688_G_A:430,0,2431:10469688	8	0	11	2
chrX	10469693	10469693	T	C	exonic	MID1	.	nonsynonymous SNV	MID1:NM_001193279:exon6:c.A1289G:p.E430G	Opitz GBBB syndrome, type I, X-linked recessive	.	.	.	.	.	.	.	.	1.0000	0.956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0024	0.0002	0	0.0002	0.0001	0.0001	0.0002	0.0002	0.0001	0	0.0002	0	0	0	0.0002	0.0002	3.742e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.32144	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.203	0.22486	.	.	.	.	.	.	.	0.24297184	0.41502	T	.	.	.	.	.	.	.	0.747603607226	0.74533	.	.	.	.	.	.	.	0.021315	0.16623	T	0.0253054	0.55096	T	-0.201427	0.54511	T	.	.	.	0.294771	0.05441	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.188	0.40457	B	.	.	5.344784	0.89672	31	0.96935891014238906	0.31676	0.98570	0.84213	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999998814	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	0.899241	0.56623	5.6	5.6	0.84997	7.515000	0.80659	7.688000	0.65646	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.867	0.70064	505	0.75648	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2143	2167.81	117	chrX	10469693	.	T	C	2167.81	.	AC=9;AF=0.214;AN=42;BaseQRankSum=-4.149e+00;DP=2021;ExcessHet=4.7172;FS=131.479;InbreedingCoeff=-0.2861;MLEAC=9;MLEAF=0.214;MQ=60.00;MQRankSum=0.00;QD=1.93;ReadPosRankSum=0.361;SOR=11.043	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,22:92:99:0|1:10469688_G_A:433,0,2413:10469688	12	0	9	0
chrX	15556109	15556109	T	C	exonic	BMX	.	nonsynonymous SNV	BMX:NM_001320866:exon19:c.T1987C:p.S663P	.	.	442	1075	4	1	0	6	0.00278293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	T	0.985	D	0.822	P	0.001	D	0.725	N	1.905	M	-2.56	D	0.062	D	0.669	D	0.695	3.331	17.21	2.05	-0.006	0.943	6.093	0.673	0.202106597595	.	.	8.021e-05	0	0	0	0	0.0001	0	0.0002	7.12e-05	11	154602	rs760164275	5.121e-05	5.099e-05	5.041e-05	5.285e-05	0.0005	4.044e-05	3.634e-05	8.57e-05	3.643e-05	0	0	0	0	0	0.0005	5.356e-05	0.0001	5.659e-05	1.779e-05	1.74e-05	1.285e-05	2.89e-05	0.0004	2.95e-06	1.11e-06	.	.	0	0	0	0	0	0	0	1.876e-05	0	0.0004	0.205	0.20002	T	0.268	0.22494	T	0.985	0.61118	D	0.822	0.59150	P	0.000756	0.42006	D	0.107041	0.724632	0.29888	N	2.55	0.74443	M	-2.56	0.89627	D	-2.63	0.56466	D	0.101	0.25006	0.062	0.83472	D	0.669	0.88534	D	10	0.5056955	0.61805	D	0.202107	0.86802	D	0.673	0.87917	0.626	0.76141	0.972217700409	0.97191	0.9604180120393544	0.96027	1.07698736004	0.77008	0.444690942764	0.31218	T	0.754763	0.93308	D	0.0132212	0.53465	T	0.0456433	0.73296	D	0.19635497033596	0.20212	T	0.463654	0.13513	T	0.8658956	0.88540	0.7092459	0.82852	0.8658956	0.88541	0.7092459	0.82853	-7.656	0.58701	D	.	.	0.489	0.64067	A	.;.;.	.;.;.	2.581613	0.33471	19.35	0.99779208548681053	0.86606	0.63656	0.32158	D	AEFDI	.	.	.	.	.	.	.	.	.	0.852189575596103	0.25065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.98	2.05	0.25860	1.127000	0.30970	1.603000	0.27594	0.665000	0.62972	0.870000	0.30794	0.980000	0.30356	0.967000	0.53440	0.1539:0.0:0.2944:0.5518	6.093	0.19228	118	0.95237	Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain;Serine-threonine/tyrosine-protein kinase, catalytic domain|Protein kinase domain|Tyrosine-protein kinase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.04762	1342.08	34	chrX	15556109	.	T	C	1342.08	.	AC=2;AF=0.048;AN=42;DP=727;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.95;SOR=1.127	GT:AD:DP:GQ:PL	1/1:0,42:42:99:1370,126,0	20	1	0	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	1/1:0,26,0,0,0,0,0:26:79:1120,79,0,1120,79,1120,1120,79,1120,1120,1120,79,1120,1120,1120,1120,79,1120,1120,1120,1120,1120,79,1120,1120,1120,1120,1120	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	1/1:0,26,0,0,0,0,0:26:79:1120,79,0,1120,79,1120,1120,79,1120,1120,1120,79,1120,1120,1120,1120,79,1120,1120,1120,1120,1120,79,1120,1120,1120,1120,1120	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	1/1:0,26,0,0,0,0,0:26:79:1120,79,0,1120,79,1120,1120,79,1120,1120,1120,79,1120,1120,1120,1120,79,1120,1120,1120,1120,1120,79,1120,1120,1120,1120,1120	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	1/1:0,26,0,0,0,0,0:26:79:1120,79,0,1120,79,1120,1120,79,1120,1120,1120,79,1120,1120,1120,1120,79,1120,1120,1120,1120,1120,79,1120,1120,1120,1120,1120	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	1/1:0,26,0,0,0,0,0:26:79:1120,79,0,1120,79,1120,1120,79,1120,1120,1120,79,1120,1120,1120,1120,79,1120,1120,1120,1120,1120,79,1120,1120,1120,1120,1120	7	4	1	0
chrX	47586641	47586641	C	T	exonic	TIMP1	.	nonsynonymous SNV	TIMP1:NM_003254:exon6:c.C574T:p.R192W,	.	.	424	1097	1	0	0	1	0.000455581	.	.	743346	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0	D	0.998	D	0.677	P	0.973	N	1.000	N	2.64	M	-3.34	D	0.116	D	0.786	D	0.473	3.448	17.68	0.819	0.381	0.088	11.178	0.432	0.429764460799	.	0.0010596	0.0002	0	0	0.0027	0	0	0	0	0.0001746	27	154602	rs192373432	0.0003	0.0003	0.0003	0.0003	0.0086	0.0002	0.0002	0.0077	0.0074	3.787e-05	0	0	0.0086	0	0.0002	2.731e-05	0.0001	1.847e-05	0.0001	0.0001	0.0001	8.547e-05	0.0033	7.475e-05	5.907e-05	0.0019	0.0015	3.211e-05	0	0	0	0.0033	0	0	1.877e-05	0	0	0.0	0.91255	D	0.003	0.79402	D	0.998	0.73220	D	0.677	0.53365	P	0.973330	0.08143	N	0.985479	1	0.08975	N	2.935	0.84639	M	-3.34	0.93975	D	-5.57	0.87760	D	0.325	0.37301	0.116	0.84465	D	0.786	0.92729	D	10	0.0143224895	0.00301	T	0.429764	0.93958	D	0.432	0.73807	.	.	0.894570396577	0.89352	0.7054990191856124	0.70491	0.870280335466	0.69372	0.24557171762	0.03316	T	0.720756	0.92106	D	-0.176886	0.24201	T	-0.0330278	0.68167	D	0.329290240478476	0.26196	T	0.879912	0.59649	D	0.69049233	0.77538	0.6634494	0.80272	0.69049233	0.77540	0.6634494	0.80273	-7.177	0.55316	T	.	.	0.166	0.36594	B	.;.	.;.	2.836109	0.37408	20.5	0.99864496722824669	0.94276	0.08066	0.14039	N	AEFBHCI	.	.	.	.	.	.	.	.	.	0.999414110790778	0.39577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	0.819	0.17926	0.110000	0.15273	0.397000	0.17956	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.998000	0.85391	0.624:0.376:0.0:0.0	11.178	0.47839	541	0.72942	.;.	.	.	.	.	.	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	2491.08	35	chrX	47586641	.	C	T	2491.08	.	AC=2;AF=0.048;AN=42;DP=778;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.94;SOR=0.855	GT:AD:DP:GQ:PL	1/1:0,78:78:99:2519,234,0	20	1	0	0
chrX	48347592	48347592	C	G	exonic	SSX3	.	nonsynonymous SNV	SSX3:NM_021014:exon7:c.G479C:p.G160A,	.	.	542	971	6	3	0	12	0.00614125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	T	0.012	B	0.02	B	0.016	N	1.000	N	0.205	N	3.14	T	-1.077	T	0.026	T	0.197	-0.172	3.162	-1.53	-0.399	-2.175	1.495	0.017	.	0.0048	0.0010596	0.0045	0.0005	0.0014	0	0.0022	0.0072	0.0111	0.0020	0.0041914	648	154602	rs145941341	0.0049	0.0049	0.0048	0.0051	0.0194	0.0048	0.0048	0.0153	0.0139	0.0012	0.0017	0.0218	3.311e-05	0.0021	0.0194	0.0051	0.0058	0.0025	0.0036	0.0036	0.0037	0.0032	0.0055	0.0033	0.0032	0.0050	0.0048	0.0005	0	0.0015	0.0212	0	0.0018	0.0137	0.0055	0.0039	0.0012	0.165	0.23271	T	0.208	0.26883	T	0.012	0.16265	B	0.02	0.19048	B	0.016211	0.01435	N	2.755460	1	0.08975	N	0.41	0.12415	N	3.14	0.07920	T	-1.75	0.41428	N	0.053	0.02462	-1.0765	0.08043	T	0.026	0.11220	T	10	0.005180359	0.00113	T	.	.	.	0.017	0.02790	.	.	0.148003135375	0.14442	0.025709915417480064	0.02521	0.0223888616739	0.02249	0.238552987576	0.02661	T	0.029322	0.21038	T	-0.816134	0.00006	T	-0.942346	0.00287	T	0.00119764584612461	0.00012	T	0.652235	0.26282	T	0.055787336	0.10889	0.06849936	0.14314	0.055787336	0.10889	0.06849936	0.14313	-3.381	0.14802	T	.	.	0.108	0.20469	B	.	.	-1.276733	0.00458	0.010	0.58699313649850271	0.06053	0.00486	0.02309	N	AEFI	.	.	.	.	.	.	.	.	.	1.90434309064945E-5	0.02871	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.86	-1.53	0.08156	-1.272000	0.02933	-3.818000	0.02517	-0.737000	0.03687	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3104:0.2699:0.0:0.4197	1.495	0.02315	96	0.96030	SSXRD motif	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09524	5448.88	38	chrX	48347592	.	C	G	5448.88	.	AC=4;AF=0.095;AN=42;DP=900;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=4;MLEAF=0.095;MQ=58.73;QD=30.96;SOR=1.090	GT:AD:DP:GQ:PL	1/1:0,81:81:99:2516,243,0	19	2	0	0
chrX	48815402	48815402	G	A	exonic	HDAC6	.	nonsynonymous SNV	HDAC6:NM_001321226:exon15:c.G1168A:p.A390T	.	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	D	0.757	P	0.196	B	0.011	N	0.997	N	0.915	L	-0.52	T	-0.901	T	0.178	T	0.108	1.595	11.29	0.958	-0.086	0.410	10.737	0.182	0.0422679650097	9.5e-05	.	2.722e-05	0	0	0	0	5.129e-05	0	0	1.94e-05	3	154602	rs370312010	3.763e-05	3.733e-05	3.82e-05	3.645e-05	0.0002	2.799e-05	2.519e-05	2.765e-05	2.366e-05	0	0	0	6.684e-05	0	0.0002	3.822e-05	6.556e-05	5.68e-05	8.991e-06	8.714e-06	1.286e-05	0	1.889e-05	0	0	.	.	0	0	0	0	0	0	0	1.889e-05	0	0	0.003	0.68238	D	0.012	0.63918	D	0.757	0.43436	P	0.196	0.36635	B	0.011444	0.29527	N	0.320352	1	0.08975	N	1.55	0.39271	L	-0.52	0.70717	T	-0.81	0.22294	N	0.206	0.23758	-0.9013	0.47857	T	0.178	0.52427	T	10	0.1911881	0.34794	T	0.042268	0.60372	D	0.182	0.45420	.	.	0.709987772455	0.70745	0.6667200340155568	0.66610	1.56731238709	0.88135	0.344612181187	0.17125	T	0.177782	0.52820	T	-0.404859	0.02151	T	-0.623693	0.10898	T	0.144130945823733	0.16626	T	0.767723	0.39623	T	0.18033743	0.39150	0.20921007	0.45255	0.18033743	0.39150	0.20921007	0.45254	-7.948	0.60715	D	.	.	0.205	0.43102	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	1.178375	0.15685	12.03	0.98042794047781312	0.37805	0.11151	0.16442	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.724947278756943	0.22976	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.77	0.958	0.18741	0.484000	0.22017	1.939000	0.29818	-0.265000	0.06832	0.400000	0.26170	0.990000	0.31317	0.611000	0.31665	0.0:0.0:0.5104:0.4896	10.737	0.45329	6	0.99319	Histone deacetylase domain;Histone deacetylase domain;Histone deacetylase domain;.;Histone deacetylase domain;Histone deacetylase domain;Histone deacetylase 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	1403.08	34	chrX	48815402	.	G	A	1403.08	.	AC=2;AF=0.048;AN=42;DP=767;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=34.22;SOR=1.075	GT:AD:DP:GQ:PL	1/1:0,41:41:99:1431,123,0	20	1	0	0
chrX	53593377	53593377	A	G	exonic	HUWE1	.	nonsynonymous SNV	HUWE1:NM_031407:exon32:c.T3728C:p.V1243A,	Mental retardation, X-linked syndromic, Turner type	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	T	0.213	B	0.134	B	0.000	D	0.999	D	0.205	N	1.25	T	-1.057	T	0.068	T	0.491	2.510	14.35	5.23	1.758	9.002	13.199	0.249	0.0104089989574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.005	0.72224	D	0.136	0.27347	B	0.063	0.27082	B	0.000036	0.55875	D	0.074618	0.994338	0.46766	D	1.245	0.31408	L	1.25	0.36512	T	-2.81	0.59389	D	0.465	0.68255	-1.0569	0.12543	T	0.068	0.28013	T	10	0.37334448	0.53644	T	0.010409	0.26915	T	0.249	0.55752	0.434	0.48500	0.672856149526	0.67009	0.6239681329449057	0.62329	1.21508690143	0.80939	0.818477153778	0.84795	D	0.657618	0.89685	D	-0.120146	0.33099	T	-0.410358	0.32183	T	0.97173285484314	0.69429	D	0.961604	0.85550	D	0.42467326	0.62401	0.42857	0.66566	0.42467326	0.62402	0.42857	0.66566	-7.911	0.61118	D	0.0840624739392681	0.04602	0.805	0.77536	P	.;.;.	.;.;.	3.611400	0.51059	23.0	0.99220397413743244	0.55870	0.99193	0.92604	D	AEFBI	.	.	.	.	.	.	.	.	.	0.999999999978623	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.23	5.23	0.72570	8.969000	0.92986	11.245000	0.90552	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.199	0.59178	0	0.99858	.;.;.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	1485.08	35	chrX	53593377	.	A	G	1485.08	.	AC=2;AF=0.048;AN=42;BaseQRankSum=1.90;DP=731;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;MQRankSum=0.00;QD=28.56;ReadPosRankSum=-1.066e+00;SOR=0.588	GT:AD:DP:GQ:PL	1/1:1,51:52:99:1513,146,0	20	1	0	0
chrX	54758921	54758921	T	C	exonic	ITIH6	.	nonsynonymous SNV	ITIH6:NM_198510:exon8:c.A1153G:p.S385G,	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.46	T	0.0	B	0.001	B	0.607	N	1.000	N	0.69	N	2.78	T	-0.940	T	0.019	T	0.03	0.415	6.255	-0.807	-0.101	0.505	7.813	0.027	0.00200747677272	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1238834799	1.829e-06	1.821e-06	1.362e-06	2.783e-06	1.876e-05	3e-07	1.1e-07	.	.	0	0	0	0	0	0	1.191e-06	0	1.876e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.527	0.07093	T	0.858	0.03428	T	0.0	0.02946	B	0.001	0.04355	B	0.607158	0.05680	N	1.222520	1	0.08975	N	0.11	0.08516	N	2.78	0.11298	T	-0.65	0.18877	N	0.039	0.01274	-0.9404	0.42552	T	0.019	0.07753	T	10	0.070865005	0.10367	T	0.002007	0.03642	T	0.027	0.05988	0.367	0.37524	0.555237559564	0.55182	0.3810823939445126	0.38023	0.00835390469041	0.00759	0.420240074396	0.27868	T	0.019978	0.15815	T	-0.63145	0.00094	T	-1.14481	0.00009	T	0.0207530108902944	0.00775	T	0.285971	0.05105	T	0.052406874	0.09768	0.068007395	0.14146	0.052406874	0.09767	0.068007395	0.14145	-2.769	0.07901	T	.	.	0.065	0.02012	B	.	.	0.353130	0.07262	3.864	0.91472330932494383	0.20744	0.03673	0.08938	N	AEFDI	.	.	.	.	.	.	.	.	.	8.77311462045272E-5	0.04703	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.43	-0.807	0.10323	0.292000	0.18766	-0.170000	0.11235	0.654000	0.53741	0.000000	0.06391	0.000000	0.08366	0.879000	0.42020	0.0:0.4335:0.0:0.5665	7.813	0.28406	351	0.85421	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.04762	1215.08	40	chrX	54758921	.	T	C	1215.08	.	AC=2;AF=0.048;AN=42;DP=745;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=30.38;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,40:40:99:1243,120,0	20	1	0	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	0/1:76,611:687:99:18448,0,201	0	6	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I	.	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	T	0.0	B	0.0	B	.	.	1.000	N	0	N	1.2	T	-0.995	T	0.031	T	0.047	-0.165	3.194	-3.2	-1.373	-0.117	6.324	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.3824	41642.18	636	chrX	55146139	.	G	A	41642.18	.	AC=13;AF=0.382;AN=34;BaseQRankSum=0.241;DP=14777;ExcessHet=12.7758;FS=1.317;InbreedingCoeff=-0.5556;MLEAC=15;MLEAF=0.441;MQ=60.00;MQRankSum=0.00;QD=4.35;ReadPosRankSum=0.564;SOR=0.591	GT:AD:DP:GQ:PL	0/1:618,99:717:99:849,0,17687	4	0	13	4
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	0/1:559,117:676:99:2280,0,17170	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	0/1:492,97:589:99:1897,0,15731	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	0/1:68,445:513:99:14390,0,451	0	1	20	0
chrX	55146226	55146226	A	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.T209C:p.I70T	.	.	377	953	191	1	0	193	0.0919485	.	.	2292730	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.42	T	0.393	B	0.677	P	0.039	N	1.000	N	0.6	N	0.95	T	-0.952	T	0.090	T	0.133	0.679	7.632	-0.877	-0.346	-0.374	4.189	0.021	0.00406903138937	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs5018687	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.10378	T	0.268	0.22694	T	0.393	0.34680	B	0.291	0.53365	B	0.039374	0.24178	N	0.273281	1	0.08975	N	0.64	0.16041	N	0.95	0.43279	T	-0.72	0.25332	N	0.2	0.23506	-0.9521	0.40608	T	0.090	0.34463	T	10	0.055033892	0.05951	T	0.004069	0.09712	T	0.021	0.04004	.	.	0.141422826196	0.13715	0.06275098226723172	0.06214	0.248494845932	0.27412	0.330263495445	0.14974	T	0.020098	0.15887	T	-0.449697	0.01134	T	-0.883735	0.00624	T	0.0690480346428045	0.08518	T	0.637636	0.25136	T	0.03846359	0.05127	0.06403163	0.12771	0.03846359	0.05127	0.06403163	0.12771	-2.966	0.10052	T	.	.	0.086	0.10787	B	.;.;.;.;.	.;.;.;.;.	-0.138938	0.03417	0.621	0.94453687128581543	0.24887	0.00870	0.03447	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988350960953	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.877	0.10083	-0.230000	0.09093	-3.501000	0.02739	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.713000	0.34548	0.5262:0.0:0.4738:0.0	4.189	0.09871	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.119	1891.57	399	chrX	55146226	.	A	G	1891.57	.	AC=5;AF=0.119;AN=42;BaseQRankSum=0.994;DP=9340;ExcessHet=1.1607;FS=0.843;InbreedingCoeff=-0.1278;MLEAC=4;MLEAF=0.095;MQ=60.00;MQRankSum=0.00;QD=0.94;ReadPosRankSum=-9.600e-02;SOR=0.789	GT:AD:DP:GQ:PL	0/1:411,41:452:5:5,0,14776	16	0	5	0
chrX	55146242	55146242	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G193A:p.G65S	.	.	381	695	446	0	0	446	0.242919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.76	T	0.988	D	0.986	D	0.181	N	1.000	N	-0.08	N	1.06	T	-1.010	T	0.074	T	0.096	-0.199	3.032	0.436	0.049	0.532	2.954	0.094	0.00575512673883	.	.	1.14e-05	0	0	0	0	0	0	9.881e-05	0.0002199	34	154602	rs751109928	9.107e-07	9.105e-07	1.361e-06	0	1.847e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.847e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.496	0.08685	T	0.847	0.04029	T	0.988	0.62325	D	0.931	0.76916	D	0.181380	0.17093	N	0.523101	1	0.08975	N	-0.405	0.02972	N	1.06	0.39781	T	0.88	0.01688	N	0.111	0.10340	-1.0096	0.27043	T	0.074	0.29897	T	10	0.024912208	0.00703	T	0.005755	0.14922	T	0.094	0.27141	0.117	0.02508	0.124217242631	0.12060	0.06545832632961472	0.06484	0.113139730866	0.12771	0.240586742759	0.02843	T	0.003551	0.02960	T	-0.539992	0.00335	T	-0.863145	0.00810	T	0.0237543456519899	0.01114	T	0.722728	0.37993	T	0.05084061	0.09248	0.06469397	0.13002	0.05084061	0.09248	0.06469397	0.13002	-2.72	0.09386	T	.	.	0.081	0.08176	B	.;.;.;.;.	.;.;.;.;.	0.646134	0.10147	6.889	0.73921017372164155	0.10504	0.01488	0.04944	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986279423699	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.436	0.15762	0.673000	0.24883	0.315000	0.17124	-0.343000	0.05659	0.980000	0.35271	0.000000	0.08366	0.977000	0.56843	0.0:0.3059:0.0:0.6941	2.954	0.05513	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.1905	12630.32	397	chrX	55146242	.	C	T	12630.32	.	AC=8;AF=0.190;AN=42;BaseQRankSum=0.806;DP=9077;ExcessHet=3.5521;FS=0.686;InbreedingCoeff=-0.2394;MLEAC=8;MLEAF=0.190;MQ=60.00;MQRankSum=0.00;QD=3.42;ReadPosRankSum=0.420;SOR=0.625	GT:AD:DP:GQ:PL	0/1:301,96:397:99:1934,0,10292	13	0	8	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|1:333,48:381:99:0|1:55146247_G_C:840,0,13618:55146247	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|1:315,46,0:361:99:0|1:55146247_G_C:878,0,12941,1826,13079,14904:55146247	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	0/1:102,245:347:99:8295,0,3265	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|1:300,45:345:99:0|1:55146247_G_C:881,0,12462:55146247	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|1:300,45,0:345:99:0|1:55146247_G_C:881,0,12462,1784,12597,14381:55146247	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|1:300,45,0:345:99:0|1:55146247_G_C:881,0,12462,1784,12597,14381:55146247	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	0/1:49,216:265:99:7444,0,1299	0	1	20	0
chrX	55146283	55146283	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G152A:p.S51N	.	.	397	623	499	3	0	505	0.288407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.21	T	0.97	D	0.76	P	0.060	U	1.000	N	1.04	L	0.58	T	-0.992	T	0.137	T	0.108	1.384	10.56	0.279	-0.048	0.205	4.875	0.056	0.0110921071969	.	.	.	.	.	.	.	.	.	.	0.0152528	397	26028	rs5018688	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.59928	D	0.093	0.43913	T	0.393	0.56973	B	0.383	0.56425	B	0.059846	0.22293	U	0.378995	1	0.08975	N	1.89	0.50145	L	0.58	0.54149	T	-1.28	0.38924	N	0.403	0.45237	-0.9915	0.32218	T	0.137	0.45260	T	10	0.1055212	0.19508	T	0.011092	0.28353	T	0.056	0.15993	0.195	0.10705	0.117506650769	0.11410	0.13308873038305813	0.13232	0.421847818605	0.42694	0.421121031046	0.27990	T	0.02108	0.16480	T	-0.332179	0.05948	T	-0.714929	0.05044	T	0.244155928492546	0.22609	T	0.533147	0.22079	T	0.27807146	0.50863	0.22633299	0.47608	0.27807146	0.50863	0.22633299	0.47607	-4.287	0.28968	T	.	.	0.120	0.24733	B	.;.;.;.;.	.;.;.;.;.	0.299513	0.06751	3.267	0.94323433060273598	0.24650	0.08620	0.14524	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999986223079379	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.279	0.14929	0.332000	0.19494	-0.521000	0.08690	0.530000	0.24713	0.996000	0.39380	0.000000	0.08366	0.128000	0.19490	0.5333:0.4667:0.0:0.0	4.875	0.13009	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	15609.31	256	chrX	55146283	.	C	T	15609.31	.	AC=15;AF=0.375;AN=40;BaseQRankSum=-6.090e-01;DP=5771;ExcessHet=17.4423;FS=2.201;InbreedingCoeff=-0.6051;MLEAC=16;MLEAF=0.400;MQ=60.00;MQRankSum=0.00;QD=3.81;ReadPosRankSum=-1.177e+00;SOR=0.788	GT:AD:DP:GQ:PL	0/1:152,60:212:99:1387,0,4933	5	0	15	1
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	2/2:0,0,10,0,0,0,0:10:31:445,445,445,31,31,0,445,445,31,445,445,445,31,445,445,445,445,31,445,445,445,445,445,31,445,445,445,445	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	2/2:0,0,10,0,0,0,0:10:31:445,445,445,31,31,0,445,445,31,445,445,445,31,445,445,445,445,31,445,445,445,445,445,31,445,445,445,445	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	2/2:0,0,10,0,0,0,0:10:31:445,445,445,31,31,0,445,445,31,445,445,445,31,445,445,445,445,31,445,445,445,445,445,31,445,445,445,445	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	2/2:0,0,10,0,0,0,0:10:31:445,445,445,31,31,0,445,445,31,445,445,445,31,445,445,445,445,31,445,445,445,445,445,31,445,445,445,445	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	2/2:0,0,10,0,0,0,0:10:31:445,445,445,31,31,0,445,445,31,445,445,445,31,445,445,445,445,31,445,445,445,445,445,31,445,445,445,445	5	3	1	1
chrX	67546547	67546547	-	GGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGC:p.G473_E474insG	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,11,0,0,0,0,0:12:4:.:.:389,0,4,393,38,430,393,38,430,430,393,38,430,430,430,393,38,430,430,430,430,393,38,430,430,430,430,430	11	3	1	0
chrX	67546536	67546547	GGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1390_1401del:p.G470_G473del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,11,0,0,0,0,0:12:4:.:.:389,0,4,393,38,430,393,38,430,430,393,38,430,430,430,393,38,430,430,430,430,393,38,430,430,430,430,430	11	3	1	0
chrX	67546542	67546547	GGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1396_1401del:p.G472_G473del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,11,0,0,0,0,0:12:4:.:.:389,0,4,393,38,430,393,38,430,430,393,38,430,430,430,393,38,430,430,430,430,393,38,430,430,430,430,430	11	3	1	0
chrX	67546530	67546547	GGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1384_1401del:p.G468_G473del	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,11,0,0,0,0,0:12:4:.:.:389,0,4,393,38,430,393,38,430,430,393,38,430,430,430,393,38,430,430,430,430,393,38,430,430,430,430,430	11	3	1	0
chrX	67546547	67546547	-	GGCGGC	exonic	AR	.	nonframeshift insertion	AR:NM_000044:exon1:c.1401_1402insGGCGGC:p.G473_E474insGG	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,11,0,0,0,0,0:12:4:.:.:389,0,4,393,38,430,393,38,430,430,393,38,430,430,430,393,38,430,430,430,430,393,38,430,430,430,430,430	11	3	1	0
chrX	67546515	67546547	GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	-	exonic	AR	.	nonframeshift deletion	AR:NM_000044:exon1:c.1369_1401del:p.G463_G473del	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	.	.	.	.	.	.	.	.	.	.	1337344	Androgen_resistance_syndrome|Kennedy_disease|AR-related_disorder	MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1186626054	0.0006	0.0005	0.0005	0.0007	0.0061	0.0005	0.0005	0.0030	0.0022	0.0025	0.0030	0.0014	0.0004	9.153e-05	0.0061	0.0003	0.0017	0.0010	0.0008	0.0006	0.0007	0.0008	0.0022	0.0006	0.0006	0.0014	0.0011	0.0013	0	0.0022	0.0009	0	0	0	0.0003	0.0009	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	7759.68	29	chrX	67546514	.	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGC,TGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC,T	7759.68	.	AC=7,3,1,1,1,2;AF=0.167,0.071,0.024,0.024,0.024,0.048;AN=42;BaseQRankSum=0.260;DP=1002;ExcessHet=0.0088;FS=1.981;InbreedingCoeff=0.5150;MLEAC=7,3,1,1,1,2;MLEAF=0.167,0.071,0.024,0.024,0.024,0.048;MQ=60.00;MQRankSum=0.00;QD=31.67;ReadPosRankSum=1.01;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:1,11,0,0,0,0,0:12:4:.:.:389,0,4,393,38,430,393,38,430,430,393,38,430,430,430,393,38,430,430,430,430,393,38,430,430,430,430,430	11	3	1	0
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|1:173,16:189:99:0|1:74591902_T_A:151,0,7205:74591902	8	0	13	0
chrX	130384742	130384742	G	C	exonic	GPR119	.	nonsynonymous SNV	GPR119:NM_178471:exon1:c.C706G:p.L236V,	.	.	435	1049	18	20	0	58	0.0269017	.	.	706099	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.16	T	0.905	P	0.493	P	0.007	N	0.709	D	1.505	L	1.19	T	-0.926	T	0.077	T	0.372	1.654	11.49	4.29	1.153	1.594	3.283	0.102	0.252115600102	0.0026	0.0018543	0.0022	0.0004	0.0003	0	0.0018	0.0033	0.0063	0.0022	0.002348	363	154602	rs41310452	0.0032	0.0032	0.0032	0.0034	0.0196	0.0032	0.0031	0.0162	0.0149	0.0006	0.0008	0.0007	0	0.0015	0.0196	0.0036	0.0034	0.0033	0.0023	0.0023	0.0024	0.0021	0.0036	0.0021	0.0020	0.0032	0.0030	0.0006	0.0073	0.0015	0.0008	0	0.0008	0.0046	0.0036	0.0039	0.0030	0.396	0.10623	T	0.435	0.13518	T	0.905	0.49920	P	0.493	0.47443	P	0.007079	0.31620	N	0.270585	0.709009	0.33499	D	1.075	0.27130	L	1.19	0.37578	T	-0.97	0.25770	N	0.052	0.02366	-0.9257	0.44758	T	0.077	0.30859	T	10	0.012250364	0.00264	T	0.252116	0.89159	D	0.102	0.29158	.	.	0.72341110774	0.72096	0.49764782468746016	0.49685	0.984425732197	0.73851	0.496496796608	0.38339	T	0.025164	0.18872	T	-0.537071	0.00349	T	-0.546347	0.17678	T	0.0176764243814382	0.00499	T	0.683432	0.29175	T	0.1734513	0.38093	0.112142295	0.27056	0.1734513	0.38093	0.112142295	0.27055	-3.675	0.18950	T	.	.	0.070	0.03661	B	.	.	2.426414	0.31206	18.67	0.99423980889278363	0.63935	0.65208	0.32661	D	AEFBI	.	.	.	.	.	.	.	.	.	0.00494949168087758	0.10771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.15	4.29	0.50359	1.355000	0.33671	8.526000	0.77440	0.676000	0.76740	0.999000	0.42656	1.000000	0.68203	0.995000	0.73285	0.0958:0.1667:0.5623:0.1751	3.283	0.06515	361	0.84870	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	0.04762	1843.08	33	chrX	130384742	.	G	C	1843.08	.	AC=2;AF=0.048;AN=42;DP=743;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=60.00;QD=31.78;SOR=0.836	GT:AD:DP:GQ:PL	1/1:0,58:58:99:1871,174,0	20	1	0	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	0/1:23,18:52:63:63,0,277	5	0	16	0
chrX	141906016	141906225	CTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC	-	exonic	MAGEC1	.	nonframeshift deletion	MAGEC1:NM_005462:exon4:c.612_821del:p.L211_L280del,	.	.	426	1084	8	4	0	16	0.00732601	.	.	2824124	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0086	0.0020	0.0083	0.0005	0.0035	0.0128	0.0129	0.0010	.	.	.	.	0.0046	0.0051	0.0048	0.0044	0.0049	0.0045	0.0045	0.0048	0.0047	0.0008	0.0036	0.0232	7.239e-05	0.0014	0.0046	0.0049	0.0048	0.0008	0.0058	0.0065	0.0079	0.0008	0.0087	0.0054	0.0052	0.0080	0.0078	0.0009	0	0.0049	0.0281	0.0003	0.0019	0.0161	0.0087	0.0055	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04762	3658.05	851	chrX	141906015	.	GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC	G	3658.05	.	AC=2;AF=0.048;AN=42;BaseQRankSum=0.877;DP=5679;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=1.0000;MLEAC=2;MLEAF=0.048;MQ=58.29;MQRankSum=-3.530e-01;QD=30.74;ReadPosRankSum=-1.614e+00;SOR=0.251	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:1,118:119:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:3686,320,0:141906015	20	1	0	0
chrX	141906066	141906066	C	0	exonic	MAGEC1	.	.	.	.	.	608	414	468	12	20	512	0.372727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	7278.24	807	chrX	141906066	.	C	G,*	7278.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5799;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=57.13;QD=24.51;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	3	1	0	16
chrX	141906073	141906073	T	0	exonic	MAGEC1	.	.	.	.	.	607	414	470	11	20	512	0.372727	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	7011.24	724	chrX	141906073	.	T	A,*	7011.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5526;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.96;QD=24.34;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	3	1	0	16
chrX	141906078	141906078	T	0	exonic	MAGEC1	.	.	.	.	.	603	425	463	11	20	505	0.363296	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	6827.24	689	chrX	141906078	.	T	C,*	6827.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=5352;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.86;QD=24.12;SOR=0.781	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	3	1	0	16
chrX	141906091	141906091	C	0	exonic	MAGEC1	.	.	.	.	.	597	448	440	15	22	492	0.34407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	5797.24	597	chrX	141906091	.	C	A,*	5797.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=4869;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=56.29;QD=22.30;SOR=0.701	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	3	1	0	16
chrX	141906119	141906119	C	0	exonic	MAGEC1	.	.	.	.	.	23	89	91	5	18	119	0.362007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	4222.24	400	chrX	141906119	.	C	T,*	4222.24	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3922;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3269;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.80;QD=18.77;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	3	1	0	16
chrX	141906126	141906126	C	0	exonic	MAGEC1	.	.	.	.	.	64	97	38	6	21	71	0.204918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1875	2402.77	337	chrX	141906126	.	C	T,*	2402.77	.	AC=1,2;AF=0.063,0.125;AN=16;BaseQRankSum=0.927;DP=4269;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3856;MLEAC=2,4;MLEAF=0.125,0.250;MQ=59.98;MQRankSum=-1.046e+00;QD=7.19;ReadPosRankSum=0.805;SOR=0.710	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	6	0	1	13
chrX	141906127	141906127	C	0	exonic	MAGEC1	.	.	.	.	.	681	410	377	17	37	448	0.333875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	3683.54	337	chrX	141906127	.	C	G,*	3683.54	.	AC=2,2;AF=0.200,0.200;AN=10;DP=4204;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3959;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.56;QD=17.29;SOR=0.790	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	3	1	0	16
chrX	141906159	141906159	T	0	exonic	MAGEC1	.	.	.	.	.	722	481	189	69	61	388	0.253685	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1790.08	154	chrX	141906159	.	T	C,*	1790.08	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3374;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3741;MLEAC=5,5;MLEAF=0.500,0.500;MQ=54.35;QD=9.04;SOR=0.787	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	3	1	0	16
chrX	141906161	141906161	T	0	exonic	MAGEC1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4	1430.08	142	chrX	141906161	.	T	C,*	1430.08	.	AC=2,2;AF=0.200,0.200;AN=10;DP=3329;ExcessHet=0.0000;FS=0.000;InbreedingCoeff=0.3741;MLEAC=5,5;MLEAF=0.500,0.500;MQ=53.70;QD=7.53;SOR=0.746	GT:AD:DP:GQ:PGT:PID:PL:PS	2|2:0,0,131:132:99:1|1:141906015_GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC_G:4858,4548,4724,381,411,0:141906015	3	1	0	16