Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	Xref.refGene	NC_fgh	WT_fgh	HZ_fgh	HH_fgh	Other_fgh	FGH_1522	FGH_MAF	dbscSNV_ADA_SCORE	dbscSNV_RF_SCORE	Maybe_Pathogenic	CLNALLELEID	CLNDN	CLNDISDB	CLNREVSTAT	CLNSIG	ONCDN	ONCDISDB	ONCREVSTAT	ONC	SCIDN	SCIDISDB	SCIREVSTAT	SCI	REVEL	MCAP	esp6500siv2_all	1000g2015aug_all	ExAC_ALL	ExAC_AFR	ExAC_AMR	ExAC_EAS	ExAC_FIN	ExAC_NFE	ExAC_OTH	ExAC_SAS	Kaviar_AF	Kaviar_AC	Kaviar_AN	avsnp151	gnomad41_exome_AF	gnomad41_exome_AF_raw	gnomad41_exome_AF_XX	gnomad41_exome_AF_XY	gnomad41_exome_AF_grpmax	gnomad41_exome_faf95	gnomad41_exome_faf99	gnomad41_exome_fafmax_faf95_max	gnomad41_exome_fafmax_faf99_max	gnomad41_exome_AF_afr	gnomad41_exome_AF_amr	gnomad41_exome_AF_asj	gnomad41_exome_AF_eas	gnomad41_exome_AF_fin	gnomad41_exome_AF_mid	gnomad41_exome_AF_nfe	gnomad41_exome_AF_remaining	gnomad41_exome_AF_sas	gnomad41_genome_AF	gnomad41_genome_AF_raw	gnomad41_genome_AF_XX	gnomad41_genome_AF_XY	gnomad41_genome_AF_grpmax	gnomad41_genome_faf95	gnomad41_genome_faf99	gnomad41_genome_fafmax_faf95_max	gnomad41_genome_fafmax_faf99_max	gnomad41_genome_AF_afr	gnomad41_genome_AF_ami	gnomad41_genome_AF_amr	gnomad41_genome_AF_asj	gnomad41_genome_AF_eas	gnomad41_genome_AF_fin	gnomad41_genome_AF_mid	gnomad41_genome_AF_nfe	gnomad41_genome_AF_remaining	gnomad41_genome_AF_sas	SIFT_score	SIFT_converted_rankscore	SIFT_pred	SIFT4G_score	SIFT4G_converted_rankscore	SIFT4G_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	LRT_Omega	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST4_score	VEST4_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	Reliability_index	MetaRNN_score	MetaRNN_rankscore	MetaRNN_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	REVEL_score	REVEL_rankscore	MutPred_score	MutPred_rankscore	MVP_score	MVP_rankscore	gMVP_score	gMVP_rankscore	MPC_score	MPC_rankscore	PrimateAI_score	PrimateAI_rankscore	PrimateAI_pred	DEOGEN2_score	DEOGEN2_rankscore	DEOGEN2_pred	BayesDel_addAF_score	BayesDel_addAF_rankscore	BayesDel_addAF_pred	BayesDel_noAF_score	BayesDel_noAF_rankscore	BayesDel_noAF_pred	ClinPred_score	ClinPred_rankscore	ClinPred_pred	LIST-S2_score	LIST-S2_rankscore	LIST-S2_pred	VARITY_R_score	VARITY_R_rankscore	VARITY_ER_score	VARITY_ER_rankscore	VARITY_R_LOO_score	VARITY_R_LOO_rankscore	VARITY_ER_LOO_score	VARITY_ER_LOO_rankscore	ESM1b_score	ESM1b_rankscore	ESM1b_pred	EVE_score	EVE_rankscore	AlphaMissense_score	AlphaMissense_rankscore	AlphaMissense_pred	Aloft_pred	Aloft_Confidence	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	fathmm-MKL_coding_group	fathmm-XF_coding_score	fathmm-XF_coding_rankscore	fathmm-XF_coding_pred	Eigen-raw_coding	Eigen-raw_coding_rankscore	Eigen-phred_coding	Eigen-PC-raw_coding	Eigen-PC-raw_coding_rankscore	Eigen-PC-phred_coding	GenoCanyon_score	GenoCanyon_rankscore	integrated_fitCons_score	integrated_fitCons_rankscore	integrated_confidence_value	GM12878_fitCons_score	GM12878_fitCons_rankscore	GM12878_confidence_value	H1-hESC_fitCons_score	H1-hESC_fitCons_rankscore	H1-hESC_confidence_value	HUVEC_fitCons_score	HUVEC_fitCons_rankscore	HUVEC_confidence_value	LINSIGHT	LINSIGHT_rankscore	GERP++_NR	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate	phyloP100way_vertebrate_rankscore	phyloP470way_mammalian	phyloP470way_mammalian_rankscore	phyloP17way_primate	phyloP17way_primate_rankscore	phastCons100way_vertebrate	phastCons100way_vertebrate_rankscore	phastCons470way_mammalian	phastCons470way_mammalian_rankscore	phastCons17way_primate	phastCons17way_primate_rankscore	SiPhy_29way_pi	SiPhy_29way_logOdds	SiPhy_29way_logOdds_rankscore	bStatistic	bStatistic_converted_rankscore	Interpro_domain	GTEx_V8_eQTL_gene	GTEx_V8_eQTL_tissue	GTEx_V8_sQTL_gene	GTEx_V8_sQTL_tissue	eQTLGen_snp_id	InterVar_automated	PVS1	PS1	PS2	PS3	PS4	PM1	PM2	PM3	PM4	PM5	PM6	PP1	PP2	PP3	PP4	PP5	BA1	BS1	BS2	BS3	BS4	BP1	BP2	BP3	BP4	BP5	BP6	BP7	GME_AF	GME_NWA	GME_NEA	GME_AP	GME_Israel	GME_SD	GME_TP	GME_CA	Otherinfo1	Otherinfo2	Otherinfo3	Otherinfo4	Otherinfo5	Otherinfo6	Otherinfo7	Otherinfo8	Otherinfo9	Otherinfo10	Otherinfo11	Otherinfo12	NSWES960-F	WT	HH	HZ	NC
chr1	1217537	1217537	G	A	exonic	SDF4	.	nonsynonymous SNV	SDF4:NM_016176:exon7:c.C1043T:p.A348V	.	.	.	.	.	.	.	.	.	.	.	2393822	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.309	0.0517235704221	0.0009	.	0.0004	0.0001	0.0002	0	0	0.0006	0	0	0.0003169	49	154602	rs113021852	0.0005	0.0005	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	8.966e-05	0.0004	0	0	0	0	0.0006	0.0003	2.321e-05	0.0003	0.0003	0.0004	0.0002	0.0005	0.0002	0.0002	0.0004	0.0004	0.0002	0	6.545e-05	0.0003	0	0	0	0.0005	0	0	0.013	0.53900	D	0.019	0.59159	D	0.915	0.50599	P	0.475	0.46927	P	0.000005	0.62929	D	0.106710	1	0.81001	D	1.845	0.48678	L	0.56	0.54540	T	-2.48	0.54059	N	0.757	0.75559	-0.6390	0.63188	T	0.202	0.55850	T	10	0.44007713	0.58044	T	0.051724	0.64779	D	0.309	0.63055	.	.	0.432716982437	0.42889	0.7638698898342031	0.76334	1.11051116609	0.78043	0.717314004898	0.69655	T	0.578	0.86141	D	-0.0840739	0.39049	T	0.0185113	0.71533	D	0.121896213262687	0.14613	T	0.935706	0.75920	D	0.21119149	0.43437	0.22675106	0.47663	0.21119149	0.43437	0.22675106	0.47662	-9.676	0.71950	D	.	.	.	.	.	.	.	5.479827	0.91365	32	0.99929151714861397	0.99279	0.99831	0.99737	D	AEFDBI	0.942501	0.94715	D	0.589668203893177	0.72531	5.820113	0.600938530005324	0.75009	6.23516	0.999999999999908	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.9	4.9	0.63643	9.570000	0.97330	9.807000	0.81726	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.699000	0.34110	0.0:0.0:1.0:0.0	17.258	0.86947	789	0.46346	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2634.83	35	chr1	1217537	.	G	A	2634.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.7;DP=777;ExcessHet=0.119;FS=6.183;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.06;ReadPosRankSum=-0.161;SOR=1.163	GT:AD:DP:GQ:PL	0/1:49,40:89:99:1105,0,1180	17	0	2	0
chr1	1454412	1454412	G	A	exonic	ATAD3C	.	nonsynonymous SNV	ATAD3C:NM_001039211:exon4:c.G290A:p.R97H	.	421	1083	17	1	0	19	0.00869565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.618	.	.	0.00139776	0.0025	0.0003	0	0	0	0.0002	0.0018	0.0151	0.0013519	209	154602	rs572992447	0.0007	0.0008	0.0004	0.0011	0.0110	0.0007	0.0007	0.0104	0.0102	0.0001	0	3.842e-05	5.058e-05	0	0.0028	6.845e-05	0.0009	0.0110	0.0003	0.0003	0.0002	0.0005	0.0083	0.0003	0.0002	0.0063	0.0056	9.64e-05	0	0	0	0	0	0	0.0001	0	0.0083	0.009	0.57480	D	0.021	0.58089	D	1.0	0.90584	D	0.977	0.73820	D	0.000004	0.62929	D	0.062588	1	0.81001	D	2.565	0.75005	M	-3.46	0.94508	D	-4.46	0.77798	D	0.897	0.89689	0.933	0.96150	D	0.896	0.96548	D	10	0.019578815	0.00439	T	.	.	.	0.618	0.85144	.	.	0.935268674465	0.93459	0.19201238412604044	0.19119	0.521599372419	0.49927	0.629859805107	0.57126	T	0.098024	0.40143	T	-0.154887	0.27549	T	0.0141335	0.71251	D	0.137434613019176	0.16052	T	0.884811	0.60904	D	0.25087216	0.48092	0.14501208	0.34407	0.25087216	0.48092	0.14501208	0.34406	-11.074	0.80062	D	.	.	0.097	0.15877	B	.	.	4.657239	0.74301	26.1	0.99822682572362342	0.90502	0.96042	0.67270	D	AEFBI	0.729799	0.67740	D	0.26968118462816	0.54619	3.627008	0.0261499274633535	0.40931	2.450857	0.22694625616664	0.18421	0.554377	0.28877	0	0.573888	0.26702	0	0.576033	0.28219	0	0.567892	0.33627	0	.	.	2.47	2.47	0.29113	8.625000	0.90736	6.599000	0.56050	-0.329000	0.05792	1.000000	0.71638	1.000000	0.68203	0.001000	0.02609	0.0:0.0:1.0:0.0	10.118	0.41778	867	0.32089	ATPase family AAA domain-containing protein 3, domain of unknown function DUF3523	.	.	.	.	.	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	0.005073	0.000000	0.000000	0.000000	0.000000	0.000000	0.010563	0.023810	0.05263	3691.83	43	chr1	1454412	.	G	A	3691.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.59;DP=916;ExcessHet=0.119;FS=1.062;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=53.92;MQRankSum=-1.423;QD=15.91;ReadPosRankSum=-0.17;SOR=0.604	GT:AD:DP:GQ:PL	0/1:44,69:113:99:1746,0,996	17	0	2	0
chr1	1525277	1525277	C	T	exonic	ATAD3A	.	nonsynonymous SNV	ATAD3A:NM_001170535:exon12:c.C1252T:p.R418W,ATAD3A:NM_001170536:exon12:c.C1015T:p.R339W,ATAD3A:NM_018188:exon12:c.C1396T:p.R466W	Harel-Yoon syndrome, Autosomal recessive, Autosomal dominant	412	1109	1	0	0	1	0.000450653	.	.	.	2203208	Inborn_genetic_diseases|Harel-Yoon_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014958,MedGen:C4310677,OMIM:617183,Orphanet:496790	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.215	0.102856342077	0.0002	0.000199681	0.0002	9.649e-05	0	0.0001	0	0.0001	0	0.0011	0.0002005	31	154602	rs139254288	0.0001	0.0001	8.305e-05	0.0001	0.0014	9.604e-05	9.084e-05	0.0007	0.0007	0.0002	2.236e-05	0	0.0003	0	0.0014	3.867e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0002	0.0006	9.152e-05	7.706e-05	0.0002	0.0001	0.0003	0	0	0	0.0002	0	0	7.352e-05	0	0.0006	0.0	0.91255	D	0.023	0.63109	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.54805	D	4.045	0.97016	H	-3.26	0.93587	D	-7.36	0.95511	D	0.741	0.77039	0.138	0.84855	D	0.550	0.83527	D	10	0.67505985	0.70941	D	0.102856	0.77656	D	0.743	0.91112	.	.	0.948121439518	0.94758	0.8804251713247512	0.88010	0.596502844283	0.54888	0.823670804501	0.85590	D	0.746203	0.95748	D	0.123577	0.66728	D	0.348386	0.90253	D	0.369482979668987	0.27777	T	0.987201	0.97673	D	0.65672094	0.75723	0.48456365	0.70163	0.65672094	0.75724	0.48456365	0.70164	-14.331	0.94083	D	0.7462835926538849	0.82838	0.483	0.63820	A	.;.;.;.	.;.;.;.	3.524873	0.49431	22.8	0.99728345898339754	0.82549	0.36526	0.25553	N	AEFGBI	0.587077	0.58487	D	-0.186267832213533	0.33706	1.915303	-0.312275443445523	0.27702	1.539042	0.035677837938269	0.14211	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.84	2.42	0.28720	0.295000	0.18821	1.829000	0.29100	-0.302000	0.06182	0.771000	0.29368	0.499000	0.25194	0.002000	0.04165	0.6825:0.3175:0.0:0.0	10.867	0.46067	846	0.36215	.;ATPase, AAA-type, core|AAA+ ATPase domain;.;ATPase, AAA-type, core	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	4474.83	33	chr1	1525277	.	C	T	4474.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.65;DP=948;ExcessHet=0.119;FS=1.82;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.021;SOR=0.711	GT:AD:DP:GQ:PL	0/1:73,68:141:99:1587,0,1565	17	0	2	0
chr1	10326244	10326244	G	C	exonic	KIF1B	.	nonsynonymous SNV	KIF1B:NM_015074:exon25:c.G2671C:p.E891Q,KIF1B:NM_001365951:exon27:c.G2809C:p.E937Q,KIF1B:NM_001365952:exon27:c.G2809C:p.E937Q	Pheochromocytoma, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	0.0482880192528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.841e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.37326	T	0.212	0.26549	T	0.989	0.62824	D	0.969	0.72001	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.765	0.45800	L	-0.82	0.75001	T	-1.39	0.36787	N	0.734	0.75009	-0.1696	0.78438	T	0.498	0.81014	T	10	0.6018709	0.66958	D	0.048288	0.63305	D	0.290	0.60924	0.219	0.14078	0.749556767029	0.74729	0.6982153262634863	0.69762	1.23630627734	0.81476	0.814065039158	0.84115	D	0.345935	0.71426	T	0.119299	0.66301	D	-0.0664114	0.65882	T	0.84802782535553	0.49996	D	0.984102	0.94582	D	0.2858203	0.51601	0.27822828	0.53781	0.2858203	0.51601	0.27822828	0.53780	-10.724	0.78968	D	.	.	0.374	0.62311	A	.;.;.;.;.	.;.;.;.;.	5.279577	0.88650	29.7	0.99699751426161221	0.80522	0.99370	0.95141	D	AEFGBI	0.891753	0.82802	D	0.588017507858634	0.72425	5.803883	0.669916851634812	0.80102	7.224664	0.999999999999494	0.74766	0.562547	0.31514	0	0.546412	0.12157	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	5.6	5.6	0.84997	9.602000	0.97623	11.794000	0.96459	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.620	0.95646	229	0.91079	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	12694.9	247	chr1	10326244	.	G	C	12694.9	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-6.862;DP=3403;ExcessHet=11.1788;FS=253.081;InbreedingCoeff=-0.4616;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=1.26;SOR=13.474	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,73:217:99:0|1:10326244_G_C:1472,0,5159:10326244	7	0	12	0
chr1	10469269	10469269	A	G	exonic	DFFA	.	nonsynonymous SNV	DFFA:NM_004401:exon2:c.T206C:p.I69T,DFFA:NM_213566:exon2:c.T206C:p.I69T	.	430	1060	32	0	0	32	0.0148699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.598	0.0124785387908	0.0033	0.00219649	0.0034	0.0005	0.0025	0	0.0008	0.0047	0.0077	0.0031	0.0034734	537	154602	rs138842024	0.0045	0.0045	0.0046	0.0045	0.0151	0.0044	0.0044	0.0125	0.0116	0.0007	0.0031	0.0015	2.519e-05	0.0005	0.0151	0.0052	0.0041	0.0035	0.0032	0.0032	0.0034	0.0031	0.0059	0.0030	0.0029	0.0049	0.0045	0.0007	0.0022	0.0059	0.0009	0	0.0005	0.0102	0.0049	0.0052	0.0031	0.064	0.36509	T	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.935	0.51832	L	.	.	.	-2.22	0.51478	N	0.697	0.70175	-0.5091	0.68319	T	0.282	0.65399	T	9	0.016964287	0.00360	T	0.012479	0.31090	T	0.598	0.84074	.	.	0.698768432235	0.69616	0.42236400297861965	0.42153	1.02612671619	0.75280	0.56750524044	0.48325	T	0.231903	0.59834	T	0.0125401	0.53371	T	0.247571	0.85504	D	0.0113790384437481	0.00170	T	0.740126	0.35895	T	0.6165737	0.73580	0.4538176	0.68238	0.6165737	0.73581	0.4538176	0.68238	-7.612	0.58394	D	.	.	0.530	0.65937	A	.;.	.;.	4.307904	0.65834	24.9	0.99801278914353586	0.88639	0.99115	0.91446	D	AEFGBI	0.899852	0.84471	D	0.678280936748503	0.78211	6.825754	0.687543685434773	0.81434	7.52536	0.999999227905108	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.49	5.49	0.81022	6.424000	0.73282	9.308000	0.79934	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.613	0.76492	381	0.83684	CIDE-N domain|CIDE-N domain|CIDE-N domain;CIDE-N domain|CIDE-N domain|CIDE-N 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	0.014602	0.000000	0.019022	0.011696	0.000000	0.017241	0.018293	0.011364	0.02632	1891.33	40	chr1	10469269	.	A	G	1891.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.046;DP=873;ExcessHet=0;FS=9.133;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=0.239;SOR=0.291	GT:AD:DP:GQ:PL	0/1:63,77:140:99:1905,0,1598	18	0	1	0
chr1	10659877	10659877	C	G	exonic	CASZ1	.	nonsynonymous SNV	CASZ1:NM_001079843:exon6:c.G1165C:p.V389L,CASZ1:NM_017766:exon6:c.G1165C:p.V389L	.	.	.	.	.	.	.	.	.	.	.	2910383	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.067	0.00492363081495	0.0022	0.000998403	0.0005	0.0053	0.0004	0	0	6.26e-05	0	6.186e-05	0.0004722	73	154602	rs145422074	0.0002	0.0002	0.0002	0.0002	0.0069	0.0002	0.0002	0.0061	0.0058	0.0069	0.0004	0	0	0	0.0021	3.061e-05	0.0005	1.162e-05	0.0013	0.0013	0.0014	0.0012	0.0043	0.0011	0.0011	0.0038	0.0036	0.0043	0	0.0005	0	0	0	0	0.0001	0.0014	0	0.169	0.37966	T	0.425	0.13912	T	0.005	0.12996	B	0.007	0.12992	B	0.072888	0.21381	N	0.495689	0.999999	0.08975	N	0	0.06538	N	.	.	.	-0.24	0.11185	N	0.202	0.25499	-1.0511	0.14092	T	0.044	0.18948	T	9	0.004233271	0.00085	T	0.004924	0.12380	T	0.067	0.19503	.	.	0.0934897674506	0.08844	0.20601532280971077	0.20518	.	.	0.449248731136	0.31841	T	0.152627	0.49310	T	-0.581308	0.00189	T	-0.606832	0.12243	T	0.00206120113121569	0.00021	T	0.521348	0.17328	T	0.04749861	0.08127	0.052684743	0.08728	0.04749861	0.08127	0.052684743	0.08728	-2.853	0.09314	T	.	.	0.097	0.15743	B	.;.	.;.	2.315466	0.29642	18.19	0.96017262906046119	0.28462	0.77999	0.38419	D	AEFBI	0.185714	0.31303	N	-0.464827164123193	0.23240	1.24661	-0.310930504939589	0.27745	1.541738	0.969932732163445	0.29168	0.646311	0.45356	0	0.653731	0.59785	0	0.645312	0.48771	0	0.604944	0.38103	0	.	.	4.63	3.7	0.41607	0.628000	0.24215	2.207000	0.31336	-0.237000	0.07570	0.432000	0.26424	0.996000	0.32793	0.847000	0.40026	0.0:0.7635:0.1516:0.0849	8.787	0.33985	776	0.48302	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.005539	0.005102	0.012228	0.011696	0.000000	0.000000	0.000000	0.000000	0.02632	646.33	34	chr1	10659877	.	C	G	646.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=744;ExcessHet=0;FS=2.488;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.248;SOR=0.815	GT:AD:DP:GQ:PL	0/1:25,23:48:99:660,0,689	18	0	1	0
chr1	12617183	12617183	G	A	exonic	DHRS3	.	nonsynonymous SNV	DHRS3:NM_004753:exon1:c.C166T:p.R56C	.	406	1113	3	0	0	3	0.0013459	.	.	.	3202112	DHRS3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.648	0.432412456184	0.0025	0.000199681	0.0024	0.0007	0.0013	0	0.0002	0.0038	0.0035	0.0010	0.002141	331	154602	rs148358973	0.0028	0.0028	0.0028	0.0028	0.0032	0.0027	0.0027	0.0031	0.0030	0.0003	0.0016	0.0065	0	0.0005	0.0029	0.0032	0.0026	0.0010	0.0022	0.0022	0.0023	0.0020	0.0036	0.0020	0.0019	0.0032	0.0031	0.0003	0	0.0016	0.0075	0.0002	0.0007	0	0.0036	0.0043	0.0006	.	.	.	0.041	0.50514	D	0.895	0.49247	P	0.448	0.46037	P	0.000002	0.62929	D	0.098899	0.999917	0.51042	D	2.61	0.76335	M	.	.	.	.	.	.	0.491	0.52475	0.711	0.93310	D	0.806	0.93432	D	10	0.016029507	0.00337	T	0.432412	0.94007	D	.	.	.	.	0.642720413867	0.63976	0.6270243248523132	0.62635	.	.	0.696694374084	0.66667	T	0.573129	0.85899	D	-0.254928	0.13501	T	-0.140752	0.60053	T	0.0448356593784612	0.04572	T	0.96937	0.88985	D	0.22886197	0.45613	0.09869273	0.23539	0.22886197	0.45613	0.09869273	0.23538	-6.268	0.48469	T	.	.	0.223	0.45446	B	.	.	3.963210	0.58142	23.9	0.9972563379866346	0.82406	0.82313	0.41559	D	ALL	0.550964	0.56323	D	0.418375672752341	0.62433	4.45908	0.414760370109962	0.62484	4.464505	0.999999999957088	0.74766	0.733237	0.96898	0	0.609123	0.50646	0	0.52208	0.10781	0	0.621717	0.48901	0	.	.	4.92	4.92	0.64147	1.087000	0.30476	8.060000	0.76395	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.7054:0.2946	11.925	0.52098	843	0.36859	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	688.33	39	chr1	12617183	.	G	A	688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.14;DP=696;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=0.895;SOR=0.66	GT:AD:DP:GQ:PL	0/1:37,28:65:99:702,0,819	18	0	1	0
chr1	13308568	13308568	T	C	exonic	PRAMEF33	.	nonsynonymous SNV	PRAMEF33:NM_001291381:exon4:c.T1106C:p.L369P	.	679	828	13	2	0	17	0.0101614	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs201731777	0.0009	0.0017	0.0009	0.0009	0.0009	0.0008	0.0008	0.0008	0.0008	0.0009	0.0001	4.652e-05	0.0006	0.0032	0	0.0009	0.0010	0.0003	0.0008	0.0018	0.0008	0.0008	0.0013	0.0006	0.0006	0.0011	0.0010	0.0005	0	0.0001	0	0.0006	0.0002	0	0.0013	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1523625	0.28782	T	.	.	.	.	.	.	.	.	.	0.7705504389889053	0.77004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22186215	0.44772	0.23266211	0.48433	0.22186215	0.44772	0.23266211	0.48432	-9.303	0.69626	D	.	.	0.429	0.61140	A	.	.	1.867573	0.23722	16.13	0.30924229698854228	0.01717	0.00334	0.01740	N	AEFI	.	.	.	.	.	.	.	.	.	1.55844724575657E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0434673	0.02580	0.822	0.822	0.17944	0.086000	0.14780	0.350000	0.17468	0.229000	0.18133	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	0.0:0.0:0.0:1.0	3.983	0.08994	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	50.59	10	chr1	13308568	.	T	C	50.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.792;DP=382;ExcessHet=0.1259;FS=21.813;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=32.49;MQRankSum=0.277;QD=2.98;ReadPosRankSum=-1.465;SOR=3.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,1:7:24:0|1:13308531_A_G:24,0,249:13308531	16	0	2	1
chr1	15251837	15251837	C	T	exonic	FHAD1	.	nonsynonymous SNV	FHAD1:NM_052929:exon2:c.C53T:p.T18I	.	402	1118	2	0	0	2	0.000893655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.530	0.173684173235	.	.	4.32e-05	0	0	0	0	0	0	0.0001	6.5e-06	1	154602	rs759708313	5.714e-06	5.472e-06	1.409e-06	1.014e-05	8.835e-05	2.46e-06	1.78e-06	4.063e-05	2.853e-05	0	0	0	0	0	0	9.267e-07	0	8.835e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000037	0.55875	U	0.000000	0.514055	0.31623	N	1.01	0.25309	L	-2.06	0.85875	D	-3.08	0.63323	D	0.46	0.49692	0.234	0.86485	D	0.614	0.86363	D	10	0.3195651	0.49341	T	0.173684	0.85030	D	0.530	0.80188	0.544	0.65731	0.255777322467	0.25185	0.46373410468018794	0.46292	.	.	0.710314154625	0.68639	T	0.009301	0.08472	T	0.00130689	0.51834	T	0.000769326	0.70386	D	0.904075264930725	0.55744	D	0.764224	0.39120	T	0.2210155	0.44669	0.24311243	0.49748	0.2210155	0.44669	0.24311243	0.49746	-4.91	0.35847	T	.	.	0.899	0.82688	P	.;.	.;.	3.946097	0.57774	23.9	0.99902847722839527	0.97426	0.62260	0.31728	D	AEFBI	0.112386	0.22216	N	0.387490045166748	0.60744	4.266731	0.352205500166054	0.58641	4.035792	0.732935102612403	0.23080	0.549168	0.22868	0	0.573078	0.20572	0	0.547309	0.15389	0	0.616125	0.45549	0	.	.	4.96	4.96	0.65153	2.165000	0.42023	3.944000	0.40624	0.597000	0.34315	0.984000	0.35821	0.999000	0.35428	0.968000	0.53726	0.0:1.0:0.0:0.0	13.579	0.61354	963	0.08280	Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain;Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) domain|Forkhead-associated (FHA) 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	.	.	.	.	.	.	.	.	0.02632	1572.33	34	chr1	15251837	.	C	T	1572.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.223;DP=751;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.05;SOR=0.671	GT:AD:DP:GQ:PL	0/1:60,68:128:99:1586,0,1348	18	0	1	0
chr1	16563946	16563946	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	400	294	827	1	0	829	0.585039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1105	.	0.2789	0.2174	0.2967	0.1361	0.3057	0.2989	0.2631	0.2918	0.0008473	131	154602	rs3863779	0.0001	0.0001	0.0003	0	0.0012	0	0	.	.	0	0	0	.	0	0	0	0	0.0012	0	0.0026	0	0	.	0	0	.	.	0	.	0	0	.	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.336496	0.271084	0.351499	0.376068	0.277778	0.344828	0.297297	0.384000	0.4737	51491.3	662	chr1	16563946	.	C	T	51491.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.392;DP=11359;ExcessHet=38.2876;FS=1.376;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.03;MQRankSum=-9.117;QD=4.97;ReadPosRankSum=0.26;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:420,169:589:99:.:.:3354,0,12277:.	1	0	18	0
chr1	16563989	16563989	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	391	314	816	1	0	818	0.565698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3891	0.2879	0.4120	0.2492	0.4146	0.4143	0.3885	0.3951	0.0044437	687	154602	rs12117084	0	0.0002	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0.0016	0.0027	0.0029	0	0.0030	0	0	.	.	0	.	0	0	.	0	0	0.0030	0	0	.	.	.	0.03	0.54159	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.353	0.39457	.	.	.	.	.	.	.	0.0024681687	0.00037	T	.	.	.	.	.	.	.	.	.	0.02352237282194909	0.02304	.	.	0.575379014015	0.49435	T	.	.	.	-0.455599	0.01046	T	-0.892213	0.00559	T	.	.	.	0.687031	0.29593	T	.	.	.	.	.	.	.	.	-3.451	0.15752	T	.	.	0.172	0.37820	B	.	.	0.069283	0.04780	1.396	0.1972110124842818	0.00678	0.00975	0.03723	N	AEFDBCIJ	0.029075	0.02679	N	.	.	.	.	.	.	7.36511087105358E-4	0.07723	0.383005	0.05895	0	0.332388	0.05802	1	0.457825	0.06646	0	0.467017	0.07116	0	.	.	0.566	0.566	0.16501	-0.694000	0.05217	-10.261000	0.00721	-1.511000	0.01016	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.358989	0.280488	0.387978	0.366379	0.277778	0.379310	0.324138	0.412000	0.4737	58952.3	662	chr1	16563989	.	G	C	58952.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.668;DP=14939;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=59.58;MQRankSum=-4.89;QD=4.25;ReadPosRankSum=-0.231;SOR=0.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:570,217:787:99:.:.:4196,0,15947:.	1	0	18	0
chr1	16564107	16564107	T	G	exonic	NBPF1	.	unknown	UNKNOWN	.	383	318	815	6	0	827	0.565277	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4042	0.4090	0.4331	0.2091	0.4092	0.4156	0.4105	0.4299	0.0114492	298	26028	rs2990551	0	0.0008	0	0	.	0	0	.	.	0	0	0	.	0	0	0	0	0	0	0.0042	0	0	.	0	0	.	.	0	.	0	0	.	0	.	0	0	0	.	.	.	0.218	0.26066	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.17828	.	.	.	.	.	.	.	0.005626291	0.00125	T	.	.	.	.	.	.	.	.	.	0.015489301517433041	0.01504	.	.	0.533775627613	0.43567	T	.	.	.	-0.499041	0.00579	T	-0.954615	0.00248	T	.	.	.	0.465553	0.17787	T	.	.	.	.	.	.	.	.	-2.062	0.03424	T	.	.	0.177	0.38676	B	.;.	.;.	-0.174163	0.03224	0.539	0.25431419136250621	0.01172	0.01395	0.04735	N	AEFDBHCI	0.031569	0.03403	N	.	.	.	.	.	.	7.84172557205885E-4	0.07810	0.383005	0.05895	0	2.97E-4	0.00021	3	0.155693	0.03940	1	0.393	0.06807	0	.	.	0.566	-0.849	0.10181	-0.576000	0.05947	-14.342000	0.00409	-0.599000	0.04621	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.364819	0.306250	0.372283	0.388889	0.187500	0.405172	0.335714	0.360000	0.3684	71661.2	958	chr1	16564107	.	T	G	71661.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-2.161;DP=14138;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=55.61;MQRankSum=5.16;QD=6.56;ReadPosRankSum=0.876;SOR=0.755	GT:AD:DP:GQ:PL	0/1:692,112:804:99:1148,0,23659	5	0	14	0
chr1	16564144	16564144	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	396	90	1031	5	0	1041	0.85258	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	0.3425	0.4588	0.4722	0.4820	0.4666	0.4640	0.4780	0.0474489	1235	26028	rs1043750	0.0010	0.0018	0.0014	0.0006	0.0011	0.0005	0.0004	0.0006	0.0004	0	0	0	.	0.0027	0	0.0011	0.0016	0	0	0.0038	0	0	.	0	0	.	.	.	.	0	.	.	0	.	0	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.428814	0.400000	0.425272	0.420168	0.375000	0.439655	0.440559	0.455645	0.5	93987.4	684	chr1	16564144	.	C	T	93987.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.71;DP=11427;ExcessHet=48.2876;FS=0.565;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.33;MQRankSum=-18.63;QD=8.46;ReadPosRankSum=0.533;SOR=0.791	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:387,210:597:99:.:.:4709,0,12517:.	0	0	19	0
chr1	16564149	16564149	C	T	exonic	NBPF1	.	unknown	UNKNOWN	.	397	86	1030	9	0	1048	0.859016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4934	0.4863	0.4979	0.4883	0.4979	0.4937	0.49	0.4947	0.0530967	1382	26028	rs2992339	0.0004	0.0011	0.0002	0.0006	0.0006	0.0001	8.492e-05	0.0002	0.0001	0	0	0	.	0	0	0.0006	0	0	0	0.0048	0	0	.	0	0	.	.	.	.	0	.	.	.	.	0	.	0	.	.	.	0.027	0.57587	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.14196	.	.	.	.	.	.	.	0.0017973781	0.00024	T	.	.	.	.	.	.	.	.	.	0.0179163774864188	0.01745	.	.	0.506860494614	0.39783	T	.	.	.	-0.443409	0.01235	T	-0.874703	0.00699	T	.	.	.	0.69743	0.33655	T	.	.	.	.	.	.	.	.	-6.206	0.47972	T	.	.	0.161	0.35519	B	.;.	.;.	1.213019	0.16064	12.29	0.62062331923232983	0.06867	0.00721	0.03037	N	AEFBCI	0.018716	0.00589	N	.	.	.	.	.	.	7.30078675238498E-5	0.04552	0.109238	0.02860	1	0.063085	0.00849	2	0.155693	0.03940	1	0.195052	0.04227	1	.	.	0.566	-0.824	0.10266	0.108000	0.15232	-3.220000	0.02960	0.312000	0.19173	0.030000	0.20431	0.000000	0.08366	0.016000	0.10718	.	.	.	497	0.76227	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.483089	0.444444	0.491848	0.487395	0.375000	0.500000	0.478873	0.492000	0.5	96026.4	662	chr1	16564149	.	C	T	96026.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.096;DP=10999;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.16;MQRankSum=6.94;QD=8.93;ReadPosRankSum=-0.939;SOR=0.695	GT:AD:DP:GQ:PL	0/1:419,158:577:99:3362,0,14029	0	0	19	0
chr1	16567226	16567226	A	C	exonic	NBPF1	.	unknown	UNKNOWN	.	324	803	395	0	0	395	0.197401	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0195	.	0.1438	0.0722	0.1053	0.1226	0.1691	0.1504	0.1502	0.1896	0.10516	16258	154602	rs201533998	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.594e-05	0.0001	8.876e-05	0	5.065e-05	0.0007	0.0001	0	0	0.0001	0.0001	0.0001	3.682e-05	0.0001	7.054e-05	0	0.0002	1.377e-05	8.82e-06	1.31e-05	6.63e-06	0	0	0	0.0003	0.0002	0	0	4.936e-05	0	0	.	.	.	0.023	0.61642	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.33	0.37093	.	.	.	.	.	.	.	0.0041511655	0.00082	T	.	.	.	.	.	.	.	.	.	0.023240658769933194	0.02276	.	.	0.600396811962	0.52961	T	.	.	.	-0.583903	0.00182	T	-0.597232	0.13045	T	.	.	.	0.937806	0.76632	D	.	.	.	.	.	.	.	.	-6.372	0.49291	T	.	.	0.237	0.50016	B	.;.	.;.	1.595410	0.20400	14.73	0.33525994525903774	0.02002	0.02869	0.07640	N	AEFDBHCIJ	0.038534	0.05466	N	.	.	.	.	.	.	0.473035393726149	0.20723	0.383005	0.05895	0	0.152768	0.03566	2	0.457825	0.06646	0	0.393	0.06807	0	.	.	0.39	0.39	0.15500	-0.142000	0.10293	-1.937000	0.04467	0.256000	0.18359	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	491	0.76657	.;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.146872	0.116162	0.129076	0.131148	0.100000	0.155172	0.179878	0.175573	0.1842	14227.4	1947	chr1	16567226	.	A	C	14227.4	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.004;DP=10643;ExcessHet=2.9153;FS=0;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=57.91;MQRankSum=-2.597;QD=1.96;ReadPosRankSum=-0.774;SOR=0.646	GT:AD:DP:GQ:PL	0/1:834,101:935:99:319,0,22657	12	0	7	0
chr1	16577387	16577387	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	356	799	367	0	0	367	0.186768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0434	.	0.2397	0.1662	0.2034	0.4259	0.2658	0.2330	0.2715	0.2199	0.0002523	39	154602	rs672812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.20811	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.327	0.36779	.	.	.	.	.	.	.	0.0049095154	0.00105	T	.	.	.	.	.	.	.	.	.	0.02503941752049605	0.02454	.	.	0.530892848969	0.43161	T	.	.	.	-0.607731	0.00131	T	-1.11074	0.00022	T	.	.	.	0.820118	0.47860	T	.	.	.	.	.	.	.	.	-10.2	0.75100	D	.	.	0.175	0.38263	B	.;.	.;.	-0.632514	0.01485	0.092	0.32524367853212488	0.01889	0.00033	0.00296	N	AEFI	0.015988	0.00334	N	.	.	.	.	.	.	7.48439775225963E-5	0.04552	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.192000	0.09585	-8.658000	0.00933	-0.551000	0.04898	0.005000	0.17040	0.000000	0.08366	0.005000	0.06747	.	.	.	444	0.79803	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.224339	0.196970	0.248641	0.200820	0.150000	0.232759	0.243902	0.206107	0.3158	4689.72	124	chr1	16577387	.	T	C	4689.72	.	AC=12;AF=0.316;AN=38;BaseQRankSum=3.98;DP=6175;ExcessHet=11.1788;FS=5.824;InbreedingCoeff=-0.4482;MLEAC=12;MLEAF=0.316;MQ=43.71;MQRankSum=-4.317;QD=1.07;ReadPosRankSum=-1.392;SOR=1.273	GT:AD:DP:GQ:PL	0/1:311,37:348:99:103,0,8763	7	0	12	0
chr1	16579293	16579293	A	G	exonic	NBPF1	.	unknown	UNKNOWN	.	529	584	394	15	0	424	0.266332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4770	0.4924	0.4777	0.4566	0.4691	0.4789	0.4718	0.4739	0.0008837	23	26028	rs4127114	2.64e-05	4.277e-05	2.622e-05	2.658e-05	0.0002	1.812e-05	1.531e-05	0.0001	7.808e-05	0.0002	0	4.461e-05	0.0002	0	0	1.524e-05	2.313e-05	0	0.0002	0.0007	0.0002	0.0002	0.0007	0.0001	0.0001	0.0002	0.0001	0.0003	0	7.295e-05	0	0.0002	0	0	0.0001	0	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.201754	0.190909	0.213499	0.135000	0.071429	0.254386	0.230469	0.197479	0.3947	6040.85	31	chr1	16579293	.	A	G	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=1.77;DP=1318;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.18;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.129;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,8:83:99:0|1:16579293_A_G:110,0,3108:16579293	4	0	15	0
chr1	16579294	16579294	T	C	exonic	NBPF1	.	unknown	UNKNOWN	.	528	581	397	16	0	429	0.269642	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4727	0.4891	0.4739	0.4729	0.4642	0.4729	0.4624	0.4674	0.0008837	23	26028	rs4127115	2.497e-05	6.823e-05	2.58e-05	2.42e-05	0.0003	1.689e-05	1.419e-05	0.0001	0.0001	0.0002	0	8.871e-05	0.0003	0	0	8.967e-06	2.286e-05	0	0.0002	0.0010	0.0002	0.0002	0.0004	0.0001	0.0001	0.0001	0.0001	0.0003	0	0.0001	0	0.0004	0.0002	0	0.0001	0	0.0002	.	.	.	0.626	0.11263	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00407	.	.	.	.	.	.	.	0.0016256273	0.00019	T	.	.	.	.	.	.	.	.	.	0.015250635719149447	0.01481	.	.	0.530770659447	0.43143	T	.	.	.	-0.622413	0.00106	T	-1.13183	0.00013	T	.	.	.	0.49745	0.15470	T	.	.	.	.	.	.	.	.	-6.053	0.46720	T	.	.	0.064	0.01738	B	.;.	.;.	-0.476506	0.01943	0.166	0.24072861881687246	0.01047	0.00011	0.00159	N	AEFI	0.015935	0.00328	N	.	.	.	.	.	.	6.49849957978273E-4	0.07527	0.163922	0.03765	0	0.096583	0.02683	0	0.083675	0.02720	0	0.24341	0.04801	0	.	.	.	.	.	-0.898000	0.04213	-20.000000	0.00162	-1.466000	0.01076	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.180503	0.190909	0.186464	0.120000	0.071429	0.254386	0.206349	0.176471	0.3947	6040.85	31	chr1	16579294	.	T	C	6040.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-5.638;DP=1314;ExcessHet=20.8569;FS=134.742;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=36.15;MQRankSum=0.737;QD=5.79;ReadPosRankSum=-1.044;SOR=6.448	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,8:83:99:0|1:16579293_A_G:110,0,3108:16579293	4	0	15	0
chr1	16579305	16579305	G	A	exonic	NBPF1	.	unknown	UNKNOWN	.	547	597	363	15	0	393	0.247637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4396	0.4635	0.4334	0.4429	0.4244	0.4403	0.4359	0.4340	0.0011142	29	26028	rs10907245	0.0016	0.0023	0.0015	0.0017	0.0061	0.0015	0.0015	0.0053	0.0050	0.0061	0.0009	0.0028	0.0005	0.0002	0.0027	0.0016	0.0013	0.0019	0.0040	0.0094	0.0041	0.0039	0.0113	0.0037	0.0036	0.0105	0.0101	0.0113	0	0.0013	0.0026	0.0004	9.697e-05	0	0.0016	0.0049	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.062183	0.039216	0.051247	0.070000	0.000000	0.098214	0.070866	0.060345	0.3421	3927.26	26	chr1	16579305	.	G	A	3927.26	.	AC=13;AF=0.342;AN=38;BaseQRankSum=3.46;DP=1255;ExcessHet=13.8672;FS=130.665;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.342;MQ=36.03;MQRankSum=0.61;QD=4.49;ReadPosRankSum=-0.348;SOR=6.491	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,7:80:74:0|1:16579305_G_A:74,0,3004:16579305	6	0	13	0
chr1	16579308	16579308	G	C	exonic	NBPF1	.	unknown	UNKNOWN	.	536	678	298	10	0	318	0.189964	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4169	0.4635	0.4098	0.4442	0.3977	0.4141	0.4226	0.4033	0.0009605	25	26028	rs10796417	2.988e-06	0.0001	2.05e-06	3.875e-06	1.313e-05	8e-07	2.2e-07	.	.	0	0	4.366e-05	0	0	0	1.416e-06	0	1.313e-05	4.685e-05	0.0005	7.844e-05	1.371e-05	7.453e-05	2.144e-05	1.549e-05	2.876e-05	1.88e-05	0	0	6.652e-05	0.0003	0	0	0	7.453e-05	0	0	.	.	.	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	0.0018868446	0.00026	T	.	.	.	.	.	.	.	.	.	0.03536828552245914	0.03483	.	.	0.579951882362	0.50079	T	.	.	.	-0.382433	0.03007	T	-0.787115	0.02245	T	.	.	.	0.920308	0.71149	D	.	.	.	.	.	.	.	.	-9.586	0.71394	D	.	.	0.175	0.38372	B	.;.	.;.	1.521589	0.19533	14.31	0.3543343570932736	0.02223	0.00520	0.02423	N	AEFI	0.030698	0.03141	N	.	.	.	.	.	.	6.38433801032419E-4	0.07505	0.183328	0.03972	0	0.096583	0.02683	0	0.083675	0.02720	0	0.185264	0.04187	1	.	.	.	.	.	0.649000	0.24529	-0.171000	0.11226	0.423000	0.20817	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	.	.	.	445	0.79730	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.063613	0.029412	0.062500	0.055000	0.000000	0.098214	0.070866	0.068376	0.2895	1867.3	26	chr1	16579308	.	G	C	1867.3	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.811;DP=1250;ExcessHet=8.9063;FS=99.423;InbreedingCoeff=-0.4082;MLEAC=11;MLEAF=0.289;MQ=35.97;MQRankSum=0.588;QD=2.62;ReadPosRankSum=-0.44;SOR=7.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:73,7:80:74:0|1:16579305_G_A:74,0,3005:16579305	8	0	11	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	11605.2	33	chr1	16759590	.	G	GC	11605.2	.	AC=25;AF=0.658;AN=38;BaseQRankSum=4.81;DP=1524;ExcessHet=5.6906;FS=11.534;InbreedingCoeff=-0.2845;MLEAC=25;MLEAF=0.658;MQ=44.88;MQRankSum=-2.822;QD=9.07;ReadPosRankSum=-3.116;SOR=0.816	GT:AD:DP:GQ:PL	0/1:114,13:127:78:78,0,3668	1	7	11	0
chr1	19119676	19119676	G	A	exonic	UBR4	.	nonsynonymous SNV	UBR4:NM_020765:exon70:c.C10336T:p.L3446F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0102062196391	.	.	8.245e-06	0	0	0	0	0	0	6.075e-05	6.5e-06	1	154602	rs764267724	3.424e-06	3.42e-06	4.086e-06	2.755e-06	0.0002	1e-06	7.3e-07	3.85e-06	1.44e-06	0	2.238e-05	0	0	0	0.0002	9.004e-07	0	2.32e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.33418	T	.	.	.	0.001	0.07471	B	0.003	0.08700	B	0.000000	0.84330	D	0.000000	0.99999	0.58761	D	0.66	0.16226	N	-0.16	0.65378	T	-1.59	0.38345	N	0.69	0.69562	-0.9163	0.46050	T	0.164	0.50176	T	10	0.32360423	0.49695	T	0.010206	0.26478	T	0.068	0.19811	0.301	0.26843	0.043077524339	0.03247	0.22467990814059002	0.22382	1.86334380764	0.92429	0.801972150803	0.82264	T	0.235805	0.60314	T	-0.156293	0.27332	T	-0.280753	0.46728	T	0.486415266990662	0.32133	T	0.973903	0.90628	D	0.14832357	0.33866	0.16086681	0.37447	0.14832357	0.33866	0.16086681	0.37446	-5.848	0.44990	T	.	.	0.144	0.31733	B	.	.	3.860315	0.55978	23.7	0.99661549509175684	0.77947	0.95997	0.67068	D	AEFBI	0.290906	0.40217	N	-0.0581046289025043	0.39241	2.310926	0.133882127440065	0.46294	2.877676	0.791626923026973	0.24025	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	5.04	0.67293	4.309000	0.58928	10.040000	0.83183	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.15:0.0:0.85:0.0	11.018	0.46917	911	0.21964	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	819.33	34	chr1	19119676	.	G	A	819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.442;DP=668;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.76;ReadPosRankSum=1.81;SOR=0.648	GT:AD:DP:GQ:PL	0/1:22,30:52:99:833,0,597	18	0	1	0
chr1	23521045	23521045	G	A	exonic	E2F2	.	nonsynonymous SNV	E2F2:NM_004091:exon4:c.C605T:p.T202I	.	415	1077	30	0	0	30	0.0137363	.	.	.	718803	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.262	0.0904742021701	0.0035	0.000998403	0.0030	0.0014	0.0049	0	0.0002	0.0041	0.0034	0.0008	0.002943	455	154602	rs116694174	0.0042	0.0042	0.0043	0.0042	0.0239	0.0041	0.0041	0.0206	0.0194	0.0016	0.0045	0.0013	0	0.0003	0.0239	0.0048	0.0048	0.0014	0.0031	0.0031	0.0035	0.0027	0.0058	0.0028	0.0028	0.0048	0.0045	0.0009	0	0.0058	0.0017	0	9.416e-05	0.0170	0.0045	0.0071	0.0019	0.114	0.28646	T	0.175	0.29945	T	0.974	0.57829	D	0.601	0.50808	P	0.128026	0.18746	N	0.590344	0.592948	0.31004	N	2.35	0.67516	M	-2.39	0.88377	D	-1.23	0.31170	N	0.055	0.02658	0.367	0.88598	D	0.660	0.88190	D	10	0.0036780536	0.00067	T	0.090474	0.75526	D	0.262	0.57482	.	.	0.619622683959	0.61654	0.18525270660731205	0.18443	0.397296365121	0.40821	0.36440384388	0.20025	T	0.145183	0.48218	T	-0.353739	0.04496	T	-0.278564	0.46951	T	0.0231836068114854	0.01045	T	.	.	.	0.038707763	0.05208	0.056382116	0.10063	0.038707763	0.05208	0.056382116	0.10063	-6.728	0.52021	T	.	.	0.107	0.20196	B	.	.	2.635034	0.34271	19.58	0.9948509391885475	0.67124	0.43320	0.27072	N	AEFGBCI	0.112629	0.22255	N	-0.244276433045562	0.31333	1.755817	-0.334354100849213	0.26997	1.495025	0.999997327058369	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.99	4.07	0.46726	1.320000	0.33272	1.821000	0.29040	-0.153000	0.12021	0.002000	0.15269	0.012000	0.20211	0.187000	0.21511	0.0:0.2617:0.7383:0.0	15.560	0.75974	366	0.84579	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020645	0.050505	0.017663	0.043860	0.000000	0.000000	0.009146	0.007576	0.05263	1778.81	39	chr1	23521045	.	G	A	1778.81	.	AC=2;AF=0.053;AN=38;DP=730;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.21;SOR=1.569	GT:AD:DP:GQ:PL	1/1:0,57:57:99:1806,170,0	18	1	0	0
chr1	26282380	26282382	ACT	0	exonic	UBXN11	.	.	.	.	398	787	290	46	1	383	0.195297	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4615	1020.95	37	chr1	26282380	.	ACT	*	1020.95	.	AC=12;AF=0.462;AN=26;BaseQRankSum=0.818;DP=1059;ExcessHet=0.0278;FS=14.798;InbreedingCoeff=0.1363;MLEAC=15;MLEAF=0.577;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=0.069;SOR=0.19	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:26282278_C_T:2958,205,0:26282278	5	4	4	6
chr1	26282383	26282405	GGGGCCGGGACCGGGACCGGGAC	0	exonic	UBXN11	.	.	.	.	382	803	290	46	1	383	0.192153	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4286	993.49	37	chr1	26282383	.	GGGGCCGGGACCGGGACCGGGAC	*	993.49	.	AC=12;AF=0.429;AN=28;BaseQRankSum=0.041;DP=1069;ExcessHet=0.0278;FS=15.846;InbreedingCoeff=0.1828;MLEAC=14;MLEAF=0.5;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=-0.087;SOR=0.188	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:26282278_C_T:2958,205,0:26282278	6	4	4	5
chr1	26282386	26282392	GCCGGGA	0	exonic	UBXN11	.	.	.	.	476	531	212	27	276	542	0.200301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4062	7050.5	37	chr1	26282386	.	GCCGGGA	*	7050.5	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.405;DP=1110;ExcessHet=0.1862;FS=10.987;InbreedingCoeff=0.0738;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=8.38;ReadPosRankSum=1.39;SOR=0.236	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,68:68:99:1|1:26282278_C_T:2958,205,0:26282278	7	4	5	3
chr1	27960209	27960209	-	GCTGGT	exonic	XKR8	.	nonframeshift insertion	XKR8:NM_018053:exon1:c.140_141insGCTGGT:p.L50_A51insVL	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2070.77	28	chr1	27960209	.	C	CGCTGGT	2070.77	.	AC=2;AF=0.053;AN=38;DP=677;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.62;SOR=1.179	GT:AD:DP:GQ:PL	1/1:0,48:48:99:2098,144,0	18	1	0	0
chr1	29279033	29279033	A	C	exonic	PTPRU	.	nonsynonymous SNV	PTPRU:NM_001195001:exon9:c.A1475C:p.E492A,PTPRU:NM_005704:exon9:c.A1475C:p.E492A,PTPRU:NM_133177:exon9:c.A1475C:p.E492A,PTPRU:NM_133178:exon9:c.A1475C:p.E492A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.460	0.0403148726591	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.955e-07	6.84e-07	0	1.402e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.682e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.55530	D	0.003	0.76473	D	0.999	0.77913	D	0.999	0.92359	D	0.000011	0.62929	D	0.065249	1	0.81001	D	1.865	0.49290	L	0.64	0.52867	T	-4.09	0.74821	D	0.608	0.66016	-0.5449	0.66978	T	0.291	0.66316	T	9	0.6366019	0.68817	D	0.040315	0.59308	D	0.460	0.75755	0.425	0.47021	0.367638622828	0.36380	0.5581836534350619	0.55745	1.26243223783	0.82077	0.749131679535	0.74318	T	0.335952	0.70551	T	0.037897	0.56770	T	-0.18334	0.56211	T	0.983167522394134	0.74933	D	0.89781	0.64256	D	0.2773714	0.50795	0.28455254	0.54455	0.2773714	0.50795	0.28455254	0.54454	-9.045	0.68057	D	.	.	0.146	0.37464	B	.;.;.;.	.;.;.;.	4.310324	0.65883	24.9	0.99621748187133408	0.75473	0.99782	0.99427	D	AEFBI	0.942030	0.94607	D	0.712018896990165	0.80422	7.290332	0.684840130914072	0.81228	7.477806	0.999999997136311	0.74766	0.732398	0.92422	0	0.588066	0.40923	0	0.743671	0.96076	0	0.579976	0.35079	0	.	.	5.75	5.75	0.90390	9.255000	0.94710	11.283000	0.91806	0.743000	0.86499	1.000000	0.71638	1.000000	0.68203	0.623000	0.31974	1.0:0.0:0.0:0.0	15.230	0.73070	370	0.84343	Fibronectin type III|Fibronectin type III|Fibronectin type III;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2656.81	35	chr1	29279033	.	A	C	2656.81	.	AC=2;AF=0.053;AN=38;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.89;SOR=1.329	GT:AD:DP:GQ:PL	1/1:0,86:86:99:2684,258,0	18	1	0	0
chr1	32771244	32771244	G	A	exonic	KIAA1522	.	nonsynonymous SNV	KIAA1522:NM_001198972:exon6:c.G1888A:p.A630T,KIAA1522:NM_001369553:exon6:c.G1921A:p.A641T,KIAA1522:NM_020888:exon6:c.G2065A:p.A689T	.	406	1101	15	0	0	15	0.0067659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	.	0.0019	0.0157748	0.0086	0.0076	0.0002	0.0932	0.0012	0.0011	0.0056	0.0038	0.0075355	1165	154602	rs117872916	0.0032	0.0032	0.0031	0.0033	0.0792	0.0031	0.0031	0.0769	0.0759	0.0067	0.0003	0.0024	0.0792	0.0021	0.0030	0.0004	0.0045	0.0048	0.0053	0.0054	0.0047	0.0059	0.0908	0.0050	0.0049	0.0839	0.0811	0.0053	0	0.0012	0.0026	0.0908	0.0012	0	0.0007	0.0058	0.0057	0.422	0.09776	T	0.237	0.24621	T	0.0	0.02946	B	0.0	0.01387	B	0.274896	0.15056	N	0.492187	1	0.19781	N	0.345	0.11182	N	2.71	0.12055	T	-0.2	0.11008	N	0.062	0.05414	-0.9860	0.33590	T	0.001	0.00287	T	10	0.0017859936	0.00023	T	.	.	.	0.009	0.00846	.	.	0.196089822672	0.19227	0.1885308462771647	0.18771	0.113547634044	0.12816	0.317226052284	0.13000	T	0.002445	0.01836	T	-0.766764	0.00014	T	-0.796702	0.01986	T	3.34079086314887e-05	0.00000	T	0.535046	0.17917	T	0.026457611	0.01705	0.039930258	0.04200	0.026457611	0.01704	0.039930258	0.04200	-4.141	0.26577	T	.	.	0.064	0.01960	B	.;.;.	.;.;.	-1.056966	0.00693	0.020	0.55504421104957669	0.05356	0.03974	0.09385	N	AEFDBCI	0.062961	0.12137	N	-1.47517868184309	0.02026	0.08905271	-1.57036657309363	0.01839	0.08379932	0.999992884666669	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.26897	0.05253	2	0.683762	0.67416	0	.	.	3.64	-3.87	0.03939	-1.747000	0.01926	-1.928000	0.04482	-1.556000	0.00955	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4567:0.1257:0.2903:0.1273	2.183	0.03643	308	0.87611	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008560	0.000000	0.008152	0.008772	0.000000	0.000000	0.012195	0.018939	0.02632	999.33	62	chr1	32771244	.	G	A	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.229;DP=841;ExcessHet=0;FS=2.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=0.19;SOR=0.47	GT:AD:DP:GQ:PL	0/1:53,48:101:99:1013,0,1227	18	0	1	0
chr1	32964396	32964396	G	A	exonic	RNF19B	.	nonsynonymous SNV	RNF19B:NM_001127361:exon1:c.C290T:p.A97V,RNF19B:NM_001300826:exon1:c.C290T:p.A97V,RNF19B:NM_153341:exon1:c.C290T:p.A97V	.	472	1041	9	0	0	9	0.00430416	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	.	.	0.0115815	0.0097	0	0	0.0667	.	0	0.0417	0.0098	0.0007503	116	154602	rs368813522	0.0022	0.0020	0.0021	0.0023	0.0694	0.0021	0.0021	0.0667	0.0656	4.419e-05	0.0002	0.0028	0.0694	0.0021	0.0013	0.0002	0.0039	0.0051	0.0032	0.0033	0.0025	0.0039	0.0762	0.0030	0.0029	0.0699	0.0675	0	0	0.0002	0.0032	0.0762	0.0009	0	0.0004	0.0039	0.0065	0.301	0.15613	T	0.13	0.34716	T	0.174	0.28827	B	0.029	0.21540	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.52	0.30669	T	-0.49	0.16393	N	0.075	0.04913	-1.0053	0.28368	T	0.030	0.13023	T	9	0.0017747283	0.00023	T	.	.	.	0.038	0.09825	.	.	0.123314135267	0.11883	0.3987242596299398	0.39787	0.432816247524	0.43450	0.86762201786	0.92227	D	0.123703	0.44825	T	-0.685815	0.00044	T	-0.691958	0.06276	T	0.0108935615067181	0.00156	T	0.336266	0.08539	T	0.030421173	0.02704	0.041678023	0.04792	0.030421173	0.02703	0.041678023	0.04792	-5.973	0.46053	T	.	.	0.102	0.20274	B	.;.;.	.;.;.	1.327328	0.17323	13.09	0.96145430819206823	0.28850	0.10379	0.15902	N	AEFDBCIJ	0.049491	0.08555	N	-1.08968595201596	0.06831	0.3156419	-1.15201343682175	0.06731	0.3250254	0.999999022868977	0.74766	0.495885	0.18260	0	0.56911	0.20461	1	0.608004	0.38603	0	0.621717	0.48901	0	.	.	1.94	-0.228	0.12452	1.168000	0.31468	-1.289000	0.05805	0.223000	0.18093	0.003000	0.16062	0.003000	0.18671	0.112000	0.18829	0.1856:0.2853:0.5291:0.0	3.111	0.05976	542	0.72843	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004854	0.007692	0.000000	0.000000	0.000000	0.000000	0.016667	0.000000	0.02632	405.34	28	chr1	32964396	.	G	A	405.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.55;DP=379;ExcessHet=0;FS=3.799;InbreedingCoeff=-0.0273;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.48;ReadPosRankSum=-0.312;SOR=0.223	GT:AD:DP:GQ:PL	0/1:10,18:28:99:419,0,262	18	0	1	0
chr1	33725350	33725350	C	G	exonic	CSMD2	.	nonsynonymous SNV	CSMD2:NM_001281956:exon17:c.G2694C:p.E898D,CSMD2:NM_052896:exon17:c.G2574C:p.E858D	.	425	1087	10	0	0	10	0.00457875	0.0002	0.126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.380	0.0415479197528	0.0061	0.00119808	0.0038	0.0011	0.0009	0	0.0003	0.0063	0.0033	0.0012	0.0040232	622	154602	rs61735686	0.0062	0.0062	0.0063	0.0060	0.0075	0.0061	0.0060	0.0073	0.0073	0.0006	0.0016	0.0038	0	0.0007	0.0017	0.0075	0.0057	0.0012	0.0036	0.0036	0.0041	0.0032	0.0065	0.0034	0.0033	0.0060	0.0058	0.0015	0	0.0013	0.0023	0	0.0007	0	0.0065	0.0038	0.0010	0.025	0.47320	D	0.004	0.74150	D	0.971	0.57185	D	0.952	0.69102	D	0.000000	0.84330	D	0.000000	0.99729	0.43775	D	0.93	0.23535	L	0.18	0.60361	T	-2.59	0.55821	D	0.868	0.86511	-0.8812	0.49665	T	0.172	0.51437	T	10	0.03079778	0.01208	T	0.041548	0.59986	D	0.380	0.69780	0.414	0.45216	0.493021045079	0.48934	0.41920477619135765	0.41836	.	.	0.697892963886	0.66840	T	0.050783	0.28695	T	-0.3	0.08660	T	-0.198579	0.54781	T	0.0300565867139397	0.01997	T	0.844715	0.52235	T	0.3322215	0.55652	0.24624981	0.50131	0.3322215	0.55652	0.24624981	0.50130	-7.786	0.61906	D	.	.	0.432	0.61285	A	.;.;.	.;.;.	3.035975	0.40681	21.2	0.99784639850381784	0.87131	0.90319	0.51400	D	AEFBI	0.521267	0.54577	D	-0.0302188169619208	0.40490	2.405477	-0.0734200195148169	0.36493	2.124482	0.00244880632794547	0.09436	0.562547	0.31514	0	0.573888	0.26702	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.45	0.363	0.15353	-0.004000	0.12813	0.626000	0.20179	-0.182000	0.10109	0.893000	0.31264	0.998000	0.33993	0.966000	0.53164	0.0:0.4925:0.0:0.5075	9.777	0.39796	514	0.74853	.;CUB domain|CUB domain|CUB domain;CUB domain|CUB domain|CUB domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002575	0.000000	0.001359	0.006410	0.000000	0.000000	0.003125	0.000000	0.02632	651.33	33	chr1	33725350	.	C	G	651.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.39;DP=655;ExcessHet=0;FS=2.641;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.47;ReadPosRankSum=-0.183;SOR=0.379	GT:AD:DP:GQ:PL	0/1:20,25:45:99:665,0,551	18	0	1	0
chr1	34197583	34197583	C	A	exonic	C1orf94	.	nonsynonymous SNV	C1orf94:NM_001134734:exon2:c.C679A:p.R227S,C1orf94:NM_032884:exon2:c.C109A:p.R37S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.00588625092613	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.603	0.12187	T	0.325	0.18846	T	0.01	0.15535	B	0.027	0.21085	B	0.600777	0.10960	N	0.796164	1	0.08975	N	0.895	0.22405	L	2.05	0.20664	T	-0.51	0.15986	N	0.1	0.08227	-0.9936	0.31670	T	0.034	0.14726	T	10	0.0664728	0.09122	T	0.005886	0.15310	T	0.017	0.02790	0.201	0.11522	0.221019684889	0.21715	0.07757229221595306	0.07693	0.038680676858	0.04113	.	.	.	0.003886	0.03292	T	-0.27599	0.11097	T	-0.634217	0.10097	T	0.0388216638700326	0.03479	T	0.342266	0.07430	T	0.06863334	0.14967	0.0407893	0.04489	0.06863334	0.14967	0.0407893	0.04489	-2.195	0.04994	T	.	.	0.158	0.35034	B	.;.	.;.	-0.182471	0.03181	0.522	0.9462432071644622	0.25205	0.01792	0.05602	N	AEFDBI	0.065889	0.12874	N	-0.914391860417981	0.10505	0.5023107	-0.919997211765697	0.11623	0.5932474	0.335357170490513	0.19528	0.706298	0.61202	0	0.59043	0.45803	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	4.98	1.86	0.24489	-0.112000	0.10762	-0.158000	0.11351	-0.190000	0.09434	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.2993:0.5542:0.1464:0.0	8.205	0.30612	778	0.48011	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1854.33	169	chr1	34197583	.	C	A	1854.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.43;DP=1719;ExcessHet=0;FS=1.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.74;ReadPosRankSum=-1.401;SOR=0.572	GT:AD:DP:GQ:PL	0/1:70,65:135:99:1868,0,1859	18	0	1	0
chr1	36099320	36099320	G	A	exonic	COL8A2	.	nonsynonymous SNV	COL8A2:NM_001294347:exon4:c.C166T:p.R56W,COL8A2:NM_005202:exon4:c.C361T:p.R121W	Corneal dystrophy, Fuchs endothelial, 1, Autosomal dominant;Corneal dystrophy, posterior polymorphous 2	2	1519	1	0	0	1	0.000329056	.	.	.	3856512	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.415	0.255311484584	.	0.000199681	0.0016	0	0	0.0096	0	0.0019	0	0	0.0003493	54	154602	rs201383455	0.0002	0.0002	0.0002	0.0002	0.0024	0.0002	0.0002	0.0020	0.0019	0	0	0.0051	0.0024	2.073e-05	0	3.642e-05	0.0003	3.656e-05	0.0003	0.0003	0.0003	0.0003	0.0037	0.0002	0.0002	0.0024	0.0020	0	0	0	0.0058	0.0037	0	0	1.476e-05	0	0	0.021	0.49117	D	0.104	0.38160	T	0.997	0.70673	D	0.875	0.62107	P	0.000005	0.62929	D	0.061282	0.92121	0.36683	D	0.55	0.14455	N	-2.89	0.91696	D	-0.97	0.25770	N	0.271	0.31140	0.370	0.88639	D	0.708	0.89944	D	10	0.007383734	0.00168	T	0.255311	0.89286	D	0.415	0.72555	0.494	0.58206	0.454402166774	0.45062	0.3874453968155254	0.38659	0.315069041011	0.33789	0.708464801311	0.68372	T	0.178078	0.52859	T	-0.312217	0.07554	T	-0.222728	0.52473	T	0.0913014857089934	0.11372	T	0.59824	0.38410	T	0.09066944	0.21222	0.07229294	0.15581	0.104539156	0.24713	0.0828098	0.18928	-8.26	0.62828	D	.	.	0.192	0.43448	B	.;.;.	.;.;.	3.542896	0.49765	22.8	0.99086312414442612	0.52100	0.67205	0.33349	D	AEFDBCI	0.699697	0.65696	D	0.22882124971645	0.52600	3.433176	0.190297427493165	0.49315	3.136089	0.999991743748032	0.74766	0.533608	0.22052	0	0.547309	0.14657	0	0.576033	0.28219	0	0.638833	0.57524	0	.	.	4.57	2.47	0.29113	1.715000	0.37591	1.810000	0.28954	-0.179000	0.10443	0.701000	0.28635	0.974000	0.29927	0.986000	0.61781	0.0:0.2736:0.3399:0.3866	6.206	0.19817	183	0.92871	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	315.33	28	chr1	36099320	.	G	A	315.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.825;DP=614;ExcessHet=0;FS=4.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=-0.072;SOR=0.399	GT:AD:DP:GQ:PL	0/1:8,13:21:99:329,0,200	18	0	1	0
chr1	37969440	37969440	G	C	exonic	SF3A3	.	nonsynonymous SNV	SF3A3:NM_001320830:exon12:c.C1036G:p.L346V,SF3A3:NM_006802:exon14:c.C1195G:p.L399V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.695	0.0404402354651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.005	0.72224	D	0.999	0.77913	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.48	0.92553	M	.	.	.	-2.62	0.56301	D	0.735	0.73555	0.330	0.88030	D	0.601	0.85821	D	9	0.8010634	0.79507	D	0.04044	0.59376	D	0.695	0.88960	0.666	0.80401	0.502157479645	0.49853	0.9475430450175392	0.94737	2.2311931778	0.95933	0.866872191429	0.92117	D	0.474386	0.80585	T	0.382666	0.88879	D	0.311897	0.88739	D	0.968859957868249	0.68386	D	0.985781	0.95172	D	0.83350277	0.86148	0.68840945	0.81671	0.83350277	0.86150	0.68840945	0.81671	-10.738	0.78201	D	.	.	0.999	0.98631	P	.	.	5.166724	0.86585	29.0	0.99865253356157146	0.94366	0.98916	0.88583	D	AEFBI	0.696538	0.65485	D	0.88846885093404	0.91182	10.756	0.81904994074954	0.91085	10.71129	0.999999998534391	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.656000	0.61178	11.718000	0.94767	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	19.786	0.96436	458	0.78890	Domain of unknown function DUF3449	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.09375	114.79	73	chr1	37969440	.	G	C	114.79	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.033;DP=1553;ExcessHet=0.3672;FS=233.351;InbreedingCoeff=-0.1431;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=0.301;SOR=11.486	GT:AD:DP:GQ:PL	0/1:48,21:69:29:29,0,1241	13	0	3	3
chr1	39414347	39414347	A	C	exonic	KIAA0754	.	nonsynonymous SNV	KIAA0754:NM_015038:exon1:c.A4082C:p.E1361A	.	425	1084	13	0	0	13	0.00596057	.	.	.	2812693	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.048	.	0.0058	0.00339457	0.0042	0.0015	0.0024	0	0.0040	0.0059	0.0068	0.0022	0.0041461	641	154602	rs78342613	0.0062	0.0062	0.0064	0.0060	0.0071	0.0061	0.0061	0.0070	0.0069	0.0011	0.0030	0.0024	5.038e-05	0.0057	0.0028	0.0071	0.0069	0.0023	0.0041	0.0041	0.0046	0.0037	0.0067	0.0039	0.0038	0.0062	0.0060	0.0014	0.0033	0.0029	0.0029	0	0.0040	0.0034	0.0067	0.0047	0.0014	.	.	.	0.018	0.59732	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.114	0.10198	-1.0975	0.04407	T	0.049	0.20829	T	9	0.0047133863	0.00099	T	.	.	.	0.048	0.13305	.	.	0.316310170894	0.31242	.	.	0.0512310808619	0.05634	0.300970971584	0.10545	T	0.056866	0.30407	T	-0.408392	0.02037	T	-0.356652	0.38440	T	0.0143324613209288	0.00286	T	0.508249	0.16142	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.32541	B	.;.	.;.	1.452021	0.18731	13.90	0.98207659076379761	0.39184	0.36571	0.25563	N	AEFDBCI	0.104875	0.20972	N	-0.00264177093971106	0.41737	2.501784	-0.0253563651691214	0.38574	2.274527	0.999999942115561	0.74766	0.722319	0.85440	0	0.546412	0.12157	0	0.698795	0.65105	0	0.657601	0.63696	0	.	.	4.13	4.13	0.47661	0.321000	0.19306	3.674000	0.39446	0.535000	0.24933	0.222000	0.24557	0.999000	0.35428	0.776000	0.36750	1.0:0.0:0.0:0.0	9.871	0.40343	809	0.43032	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1217.33	38	chr1	39414347	.	A	C	1217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.608;DP=781;ExcessHet=0;FS=2.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=-1.528;SOR=0.481	GT:AD:DP:GQ:PL	0/1:48,50:98:99:1231,0,1357	18	0	1	0
chr1	43441554	43441554	T	C	exonic	SZT2	.	nonsynonymous SNV	SZT2:NM_015284:exon53:c.T7391C:p.V2464A,SZT2:NM_001365999:exon54:c.T7562C:p.V2521A	Epileptic encephalopathy, early infantile, 18, Autosomal recessive	417	1087	17	1	0	19	0.00866393	.	.	.	237176	not_provided|SZT2-related_disorder|Developmental_and_epileptic_encephalopathy,_18|not_specified|Inborn_genetic_diseases	MedGen:C3661900|.|MONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476,Orphanet:369894|MedGen:CN169374|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.034	0.00470960270413	0.0039	0.000798722	0.0053	0.0011	0.0019	0	0.0005	0.0086	0.0044	0.0015	0.0052587	813	154602	rs150113647	0.0045	0.0045	0.0046	0.0044	0.0053	0.0044	0.0043	0.0052	0.0051	0.0008	0.0028	0.0018	0	0.0011	0.0047	0.0053	0.0040	0.0013	0.0033	0.0033	0.0035	0.0031	0.0059	0.0031	0.0030	0.0054	0.0052	0.0010	0	0.0026	0.0012	0	0.0006	0.0068	0.0059	0.0024	0.0008	0.033	0.44358	D	0.008	0.67890	D	0.4	0.34852	B	0.121	0.32300	B	0.012492	0.29156	N	0.334680	0.999999	0.08975	N	1.67	0.42885	L	.	.	.	-1.83	0.42957	N	0.706	0.70966	-1.0086	0.27354	T	0.061	0.25383	T	9	0.009698093	0.00218	T	0.00471	0.11722	T	.	.	.	.	0.501874446873	0.49824	0.5733369692536592	0.57262	0.525076752411	0.50180	0.432314991951	0.29525	T	0.113489	0.43057	T	-0.399741	0.02324	T	-0.340438	0.40294	T	0.00609547073741499	0.00067	T	0.518148	0.16784	T	0.03678032	0.04591	0.093024164	0.21952	0.039399084	0.05433	0.08782407	0.20439	-3.095	0.11239	T	0.2323983399921941	0.31454	0.176	0.38534	B	.;.	.;.	3.281105	0.44954	22.0	0.99446806567216017	0.65071	0.92859	0.56721	D	AEFDGBCI	0.317305	0.42134	N	0.100715217444389	0.46496	2.889063	0.233314450735381	0.51704	3.350794	0.788456764300544	0.23972	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.636168	0.56350	0	.	.	5.61	4.42	0.52775	4.090000	0.57417	4.280000	0.42877	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.918000	0.45347	0.0:0.0:0.1343:0.8657	13.992	0.63886	782	0.47442	.;.	.	.	.	.	.	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	0.003021	0.000000	0.002717	0.000000	0.000000	0.008621	0.009146	0.000000	0.02632	1800.33	39	chr1	43441554	.	T	C	1800.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.545;DP=860;ExcessHet=0;FS=4.254;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.07;ReadPosRankSum=2.07;SOR=1.072	GT:AD:DP:GQ:PL	0/1:57,71:128:99:1814,0,1476	18	0	1	0
chr1	45499580	45499580	C	A	exonic	CCDC163	.	nonsynonymous SNV	CCDC163:NM_001102601:exon1:c.G30T:p.Q10H,CCDC163:NM_001358406:exon1:c.G30T:p.Q10H,CCDC163:NM_001358407:exon1:c.G30T:p.Q10H	.	424	1094	4	0	0	4	0.00182482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00497468085921	.	.	.	.	.	.	.	.	.	.	.	.	.	rs756488005	6.404e-06	9.542e-06	7.027e-06	5.883e-06	0.0002	1.5e-06	1.01e-06	2.29e-06	6.4e-07	0	0	0	0	0	0.0002	8.615e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.69	0.05920	T	.	.	.	.	.	.	.	.	.	.	0.999903	0.19694	N	.	.	.	.	.	.	.	.	.	0.22	0.24634	-1.0230	0.22736	T	0.069	0.28313	T	7	0.11895102	0.22500	T	0.004975	0.12535	T	.	.	0.217	0.13788	0.171388866994	0.16791	0.09553565647196068	0.09485	.	.	.	.	.	.	.	.	-0.137641	0.30267	T	-0.435488	0.29314	T	0.509228587150574	0.32968	D	0.423058	0.11286	T	0.035792988	0.04279	0.08966557	0.20981	0.035792988	0.04279	0.08966557	0.20980	-4.383	0.29326	T	.	.	0.311	0.55313	B	.;.	.;.	1.168359	0.15580	11.95	0.97722145914521441	0.35561	0.46172	0.27701	N	AEFDBCI	0.099655	0.20055	N	-0.621315161741555	0.18304	0.949264	-0.602066211955068	0.19440	1.043	0.99999442965784	0.74766	0.242642	0.04205	2	0.298843	0.05288	2	0.47417	0.07244	0	0.249971	0.05119	0	.	.	5.28	1.24	0.20416	0.419000	0.20967	0.445000	0.18464	0.599000	0.40250	0.979000	0.35152	0.995000	0.32472	0.031000	0.13245	0.0:0.4351:0.48:0.0849	8.668	0.33296	175	0.93230	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1860.33	35	chr1	45499580	.	C	A	1860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.314;DP=858;ExcessHet=0;FS=2.851;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.34;ReadPosRankSum=0.693;SOR=0.959	GT:AD:DP:GQ:PL	0/1:89,75:164:99:1874,0,2324	18	0	1	0
chr1	50419077	50419077	A	T	exonic	DMRTA2	.	nonsynonymous SNV	DMRTA2:NM_032110:exon3:c.T1217A:p.L406Q	.	338	1164	19	1	0	21	0.00893997	.	.	.	1328078	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.098	.	.	.	0.0033	0	0	0	.	0.0217	0	0.0019	0.0002135	33	154602	rs184374125	0.0035	0.0030	0.0035	0.0036	0.0122	0.0035	0.0034	0.0091	0.0080	0.0004	0.0051	0.0022	0	0.0003	0.0122	0.0037	0.0042	0.0032	0.0026	0.0026	0.0026	0.0026	0.0040	0.0024	0.0023	0.0036	0.0035	0.0008	0	0.0035	0.0017	0	0.0004	0.0139	0.0040	0.0058	0.0025	0.215	0.19293	T	0.575	0.08654	T	0.968	0.56581	D	0.452	0.46163	P	0.096254	0.20085	N	0.261257	0.605196	0.30907	N	1.24	0.30952	L	1.46	0.32238	T	0.47	0.03090	N	0.325	0.36569	-1.1222	0.02197	T	0.003	0.00994	T	10	0.006879717	0.00156	T	.	.	.	0.098	0.28162	.	.	0.386234084001	0.38240	0.48112459390252194	0.48032	.	.	0.894849002361	0.95850	D	0.013539	0.11689	T	-0.46439	0.00922	T	-0.439985	0.28810	T	0.0531151546423992	0.06039	T	0.561144	0.19645	T	0.19138479	0.40763	0.24172303	0.49576	0.19138479	0.40763	0.24172303	0.49575	-5.351	0.40445	T	.	.	0.085	0.14431	B	.;.	.;.	2.922365	0.38803	20.8	0.9423790608236714	0.24499	0.94754	0.62215	D	AEFDBCI	0.413626	0.48322	N	-0.0920958920621304	0.37738	2.199965	-0.0951735304783025	0.35588	2.060809	0.998556655596953	0.37186	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.19	3.19	0.35720	1.171000	0.31505	8.183000	0.76780	0.618000	0.50648	0.998000	0.41325	1.000000	0.68203	0.612000	0.31691	1.0:0.0:0.0:0.0	10.118	0.41774	560	0.71333	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.017751	0.014286	0.044444	0.000000	0.000000	0.000000	0.021127	0.017241	0.07895	1280.79	23	chr1	50419077	.	A	T	1280.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.918;DP=540;ExcessHet=0.3672;FS=0.762;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=-1.766;SOR=0.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:18,25:43:99:0|1:50419077_A_T:583,0,469:50419077	16	0	3	0
chr1	54702160	54702160	G	T	exonic	MROH7	.	nonsynonymous SNV	MROH7:NM_001291332:exon18:c.G1910T:p.R637L,MROH7:NM_001039464:exon20:c.G3356T:p.R1119L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.00742189468936	.	.	.	.	.	.	.	.	.	.	.	.	.	rs370697369	4.115e-06	4.788e-06	2.729e-06	5.516e-06	7.015e-05	1.48e-06	9.7e-07	3.016e-05	2.052e-05	0	0	0	0	0	0	0	0	7.015e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.653	0.39575	T	0.026	0.55759	D	0.415	0.35204	B	0.105	0.31087	B	0.610580	0.05699	N	1.194740	1	0.08975	N	2.015	0.55033	M	4.79	0.01980	T	-2.07	0.47344	N	0.441	0.47949	-0.9750	0.36125	T	0.024	0.10103	T	10	0.078143656	0.12418	T	0.007422	0.19685	T	0.024	0.04979	0.464	0.53404	0.0138822411134	0.00435	0.27172448853207465	0.27085	0.189719429744	0.21289	0.241123124957	0.02892	T	0.004631	0.04039	T	-0.445252	0.01204	T	-0.640681	0.09619	T	0.111846603453159	0.13612	T	0.768323	0.39714	T	0.055197123	0.10693	0.07115494	0.15202	0.055197123	0.10693	0.07115494	0.15201	-5.885	0.45307	T	.	.	0.166	0.36574	B	.;.	.;.	1.034977	0.14151	10.73	0.98661480850491223	0.44345	0.04251	0.09779	N	AEFDBI	0.164660	0.29107	N	-1.02791719724537	0.08027	0.3749803	-1.06351743949056	0.08427	0.4143253	7.7653203496821E-4	0.07793	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	1.18	0.20058	0.446000	0.21410	0.428000	0.18294	-0.135000	0.12811	0.000000	0.06391	0.000000	0.08366	0.064000	0.16252	0.273:0.169:0.5579:0.0	4.267	0.10216	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	582.33	43	chr1	54702160	.	G	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.307;DP=769;ExcessHet=0;FS=1.085;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=2.42;SOR=0.527	GT:AD:DP:GQ:PL	0/1:24,26:50:99:596,0,543	18	0	1	0
chr1	56707684	56707684	G	A	exonic	PRKAA2	.	nonsynonymous SNV	PRKAA2:NM_006252:exon9:c.G1630A:p.A544T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0419340779857	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.32453	T	0.063	0.45110	T	0.697	0.41767	P	0.411	0.44827	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.215	0.62545	M	-0.83	0.74159	T	-1.67	0.39887	N	0.68	0.68690	-0.2529	0.76281	T	0.415	0.76245	T	10	0.69721746	0.72219	D	0.041934	0.60196	D	0.362	0.68230	0.407	0.44066	0.911861285934	0.91098	0.7810356495451304	0.78054	1.52497149867	0.87483	0.68064904213	0.64362	T	0.35625	0.72313	T	0.140625	0.68384	D	-0.0357782	0.67984	D	0.989046156406403	0.79308	D	0.954605	0.82717	D	0.68887156	0.77450	0.4936967	0.70716	0.68887156	0.77452	0.4936967	0.70717	-9.121	0.68472	D	.	.	0.793	0.76947	P	.;.	.;.	4.502944	0.70449	25.5	0.99861054994046083	0.93911	0.99348	0.94841	D	AEFDBI	0.869780	0.79046	D	0.636484300271477	0.75495	6.316407	0.730252814636135	0.84676	8.358683	0.999999999998805	0.74766	0.632932	0.41330	0	0.59043	0.45803	0	0.601832	0.32385	0	0.620846	0.47308	0	.	.	5.99	5.99	0.97299	9.602000	0.97623	11.882000	0.98861	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.478	0.99191	897	0.25382	5'-AMP-activated protein kinase catalytic subunit alpha-2, C-terminal;5'-AMP-activated protein kinase catalytic subunit alpha-2, 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	.	.	.	.	.	.	.	.	0.02632	1951.33	34	chr1	56707684	.	G	A	1951.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.577;DP=775;ExcessHet=0;FS=2.222;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.65;ReadPosRankSum=0.388;SOR=0.501	GT:AD:DP:GQ:PL	0/1:64,79:143:99:1965,0,1632	18	0	1	0
chr1	74472097	74472097	T	C	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.A1429G:p.I477V,LRRC53:NM_001382280:exon5:c.A1525G:p.I509V	.	429	1086	6	1	0	8	0.00366972	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.0319734591994	.	0.00359425	0.0050	0.0010	0.0068	0	0.0018	0.0073	0	0.0048	0.001533	237	154602	rs61729305	0.0059	0.0053	0.0059	0.0058	0.0080	0.0057	0.0056	0.0077	0.0076	0.0015	0.0026	0.0030	0	0.0024	0.0022	0.0080	0.0064	0.0046	0.0047	0.0047	0.0048	0.0046	0.0081	0.0044	0.0043	0.0075	0.0073	0.0012	0.0099	0.0035	0.0023	0.0002	0.0017	0	0.0081	0.0047	0.0035	.	.	.	0.574	0.08685	T	.	.	.	.	.	.	0.004547	0.33627	N	0.205299	1	0.81001	D	.	.	.	0.39	0.57419	T	.	.	.	0.097	0.07811	-0.9486	0.41211	T	0.090	0.34628	T	7	0.0049051046	0.00105	T	0.031973	0.53925	D	.	.	.	.	0.200317383148	0.19677	0.005490662921900084	0.00519	.	.	.	.	.	0.001517	0.00960	T	-0.561082	0.00250	T	-0.5729	0.15184	T	0.0195086368587922	0.00655	T	0.312169	0.06100	T	0.020979108	0.00678	0.047809146	0.06966	0.020979108	0.00678	0.047809146	0.06965	-2.717	0.07447	T	.	.	0.071	0.03925	B	.	.	1.283606	0.16839	12.79	0.93930635729086343	0.23978	0.58730	0.30721	D	AEFI	0.123844	0.23964	N	-0.0513275220994506	0.39544	2.333618	0.00791451541929739	0.40080	2.38643	0.00132160600994955	0.08445	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.99	3.66	0.41111	0.473000	0.21843	0.943000	0.22867	-0.119000	0.14319	1.000000	0.71638	1.000000	0.68203	0.938000	0.47775	0.2588:0.072:0.1344:0.5348	2.357	0.04035	811	0.42639	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2941.83	45	chr1	74472097	.	T	C	2941.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.702;DP=927;ExcessHet=0.119;FS=1.013;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.571;SOR=0.778	GT:AD:DP:GQ:PL	0/1:73,38:111:99:966,0,2060	17	0	2	0
chr1	74472163	74472163	G	T	exonic	LRRC53	.	nonsynonymous SNV	LRRC53:NM_001364666:exon4:c.C1363A:p.P455T,LRRC53:NM_001382280:exon5:c.C1459A:p.P487T	.	433	1082	6	1	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0257575540798	.	0.00359425	0.0049	0.0011	0.0068	0	0.0018	0.0070	0	0.0048	0.0015136	234	154602	rs61729310	0.0058	0.0052	0.0058	0.0058	0.0079	0.0056	0.0056	0.0076	0.0075	0.0015	0.0026	0.0030	0	0.0024	0.0022	0.0079	0.0064	0.0045	0.0047	0.0047	0.0048	0.0046	0.0080	0.0044	0.0043	0.0075	0.0073	0.0011	0.0099	0.0035	0.0023	0.0002	0.0017	0	0.0080	0.0047	0.0035	0.004	0.65419	D	0.048	0.48594	D	.	.	.	.	.	.	0.015308	0.28282	N	0.261873	1	0.81001	D	.	.	.	0.63	0.53088	T	-0.51	0.15986	N	0.075	0.04913	-0.9603	0.39124	T	0.108	0.39197	T	7	0.006281346	0.00142	T	0.025758	0.48712	D	0.028	0.06331	.	.	0.128392430309	0.12331	0.05114640694569114	0.05056	.	.	.	.	.	0.006838	0.06266	T	-0.59295	0.00161	T	-0.618676	0.11289	T	0.0295997138996185	0.01929	T	0.512749	0.16428	T	0.038801152	0.05237	0.044930782	0.05932	0.038801152	0.05237	0.044930782	0.05931	-3.497	0.16389	T	.	.	0.075	0.05404	B	.	.	0.686234	0.10548	7.258	0.94582537496475061	0.25126	0.71561	0.35066	D	AEFI	0.154549	0.27959	N	-0.482390221116792	0.22658	1.211404	-0.499432534366444	0.22170	1.202838	3.60166759752151E-4	0.06668	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.88	0.85	0.18119	1.547000	0.35798	0.308000	0.17052	-0.949000	0.02041	1.000000	0.71638	0.016000	0.20520	0.163000	0.20749	0.3341:0.0:0.4676:0.1984	3.903	0.08671	811	0.42639	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.05263	2240.83	45	chr1	74472163	.	G	T	2240.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.42;DP=847;ExcessHet=0.119;FS=0.618;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.531;SOR=0.595	GT:AD:DP:GQ:PL	0/1:53,30:83:99:770,0,1408	17	0	2	0
chr1	77935995	77935995	G	C	exonic	NEXN	.	nonsynonymous SNV	NEXN:NM_001172309:exon10:c.G1232C:p.R411T,NEXN:NM_144573:exon11:c.G1424C:p.R475T	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	.	.	.	.	.	.	.	.	0.138	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	184.09	42	chr1	77935995	.	G	C	184.09	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.054;DP=725;ExcessHet=0.7564;FS=181.459;InbreedingCoeff=-0.1272;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.09;ReadPosRankSum=0.411;SOR=8.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,9:45:37:0|1:77935995_G_C:37,0,1348:77935995	17	0	2	0
chr1	90017368	90017368	T	G	exonic	ZNF326	.	nonsynonymous SNV	ZNF326:NM_181781:exon6:c.T360G:p.D120E,ZNF326:NM_001320185:exon8:c.T711G:p.D237E,ZNF326:NM_182976:exon8:c.T978G:p.D326E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00321357897636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.02795	T	0.026	0.19406	B	0.027	0.21085	B	0.000244	0.46924	D	0.180429	0.672312	0.31525	N	-0.245	0.03879	N	1.07	0.39586	T	1.53	0.00747	N	0.272	0.34228	-0.9591	0.39349	T	0.010	0.03811	T	10	0.045364827	0.03599	T	0.003214	0.07057	T	0.074	0.21613	0.477	0.55502	0.151262610727	0.14761	0.23807760985959797	0.23721	0.417156267166	0.42343	0.600036740303	0.52910	T	0.024111	0.18278	T	-0.183127	0.23273	T	-0.500826	0.22262	T	0.433837443590164	0.30202	T	0.792821	0.43457	T	0.027692176	0.01998	0.035208154	0.02730	0.027692176	0.01998	0.035208154	0.02729	-2.616	0.06625	T	.	.	0.219	0.44910	B	.;.	.;.	1.835488	0.23322	15.97	0.67310532221741504	0.08317	0.73573	0.35988	D	AEBI	0.118130	0.23113	N	-0.752437775536872	0.14566	0.7267258	-0.544034569177615	0.20964	1.131899	0.102893002400108	0.16430	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.48	0.171	0.14312	0.260000	0.18192	1.573000	0.27428	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	1.000000	0.97212	0.1756:0.3256:0.0:0.4988	4.962	0.13419	673	0.60677	Zinc finger C2H2 AKAP95-type;Zinc finger C2H2 AKAP95-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	.	.	.	.	.	.	.	.	0.02632	770.33	33	chr1	90017368	.	T	G	770.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.043;DP=679;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.85;ReadPosRankSum=-1.912;SOR=0.614	GT:AD:DP:GQ:PL	0/1:31,34:65:99:784,0,710	18	0	1	0
chr1	92180595	92180595	A	G	exonic	BTBD8	.	nonsynonymous SNV	BTBD8:NM_015237:exon6:c.A1373G:p.H458R,BTBD8:NM_001376131:exon17:c.A2912G:p.H971R	.	430	1071	21	0	0	21	0.00970874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008816	0.005319	0.000000	0.013393	0.000000	0.000000	0.000000	0.039474	0.02632	1575.33	46	chr1	92180595	.	A	G	1575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.246;DP=1359;ExcessHet=0;FS=2.382;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.329;SOR=0.971	GT:AD:DP:GQ:PL	0/1:53,66:119:99:1589,0,1294	18	0	1	0
chr1	99884396	99884396	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2491C:p.Y831H,AGL:NM_000642:exon19:c.T2491C:p.Y831H,AGL:NM_000643:exon19:c.T2491C:p.Y831H,AGL:NM_000644:exon19:c.T2491C:p.Y831H,AGL:NM_000646:exon19:c.T2443C:p.Y815H	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	1488844	Glycogen_storage_disease_type_III	MONDO:MONDO:0009291,MedGen:C0017922,OMIM:232400,Orphanet:366	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.081	0.00911862377621	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.401e-06	7.43e-05	1.397e-06	1.405e-06	1.848e-06	2.3e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.848e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	0.39097	T	0.473	0.12142	T	0.517	0.50474	P	0.109	0.47728	B	0.002293	0.36846	N	0.305907	0.99907	0.46009	D	2.045	0.56016	M	1.57	0.29342	T	-0.65	0.18877	N	0.272	0.33250	-1.1132	0.02809	T	0.049	0.20711	T	10	0.27782464	0.45351	T	0.009119	0.23988	T	0.081	0.23632	0.336	0.32491	0.479744053436	0.47606	0.606268470227836	0.60557	0.11555191635	0.13036	0.707347929478	0.68209	T	0.099441	0.40426	T	-0.125642	0.32204	T	-0.418252	0.31276	T	0.677078485488892	0.39656	D	0.937306	0.76420	D	0.20774648	0.42990	0.14135508	0.33665	0.20774648	0.42990	0.14135508	0.33664	-6.617	0.51183	T	0.20745740101029875	0.27728	0.195	0.49038	B	.;.;.;.;.	.;.;.;.;.	3.365396	0.46485	22.3	0.99621718597315734	0.75473	0.99680	0.98609	D	AEBI	0.860591	0.77848	D	0.379094507883598	0.60291	4.216405	0.481746564574198	0.66782	4.996979	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	7.619000	0.82253	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	4455.13	82	chr1	99884396	.	T	C	4455.13	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.146;DP=2242;ExcessHet=20.8569;FS=143.104;InbreedingCoeff=-0.6543;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.3;SOR=12.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,13:102:29:0|1:99884396_T_C:29,0,3352:99884396	4	0	15	0
chr1	99884400	99884400	T	C	exonic	AGL	.	nonsynonymous SNV	AGL:NM_000028:exon19:c.T2495C:p.I832T,AGL:NM_000642:exon19:c.T2495C:p.I832T,AGL:NM_000643:exon19:c.T2495C:p.I832T,AGL:NM_000644:exon19:c.T2495C:p.I832T,AGL:NM_000646:exon19:c.T2447C:p.I816T	Glycogen storage disease IIIa, Autosomal recessive;Glycogen storage disease IIIb, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.153	0.0122640309764	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.38e-06	6.716e-05	1.374e-06	1.386e-06	9.081e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.081e-07	1.668e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.27426	T	0.026	0.56640	D	0.0	0.21573	B	0.001	0.24526	B	0.000055	0.53742	D	0.164392	0.996604	0.43303	D	0.75	0.19020	N	1.65	0.27650	T	-0.36	0.13035	N	0.436	0.50327	-1.0535	0.13440	T	0.016	0.06711	T	10	0.188252	0.34372	T	0.012264	0.30673	T	0.153	0.40148	0.481	0.56142	0.347438807231	0.34349	0.6957915828848406	0.69520	0.0479730424621	0.05229	0.57926928997	0.49983	T	0.024605	0.18561	T	-0.114689	0.33995	T	-0.402519	0.33091	T	0.689807772636414	0.40239	D	0.921208	0.71446	D	0.15030582	0.34224	0.15235546	0.35850	0.15030582	0.34224	0.15235546	0.35849	-7.468	0.57385	T	0.12742211284755814	0.13043	0.196	0.46493	B	.;.;.;.;.	.;.;.;.;.	3.585879	0.50577	23.0	0.98956683015017666	0.49246	0.98949	0.89045	D	AEFBI	0.617707	0.60379	D	-0.259290584713923	0.30734	1.716485	0.0117534508968653	0.40260	2.399848	0.999723963512748	0.42220	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.683762	0.67416	0	.	.	5.8	5.8	0.92081	5.882000	0.69458	7.878000	0.72341	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	16.134	0.81276	855	0.34697	Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;Glycogen debranching enzyme, central domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	2128.93	50	chr1	99884400	.	T	C	2128.93	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.929;DP=2013;ExcessHet=4.0268;FS=140.901;InbreedingCoeff=-0.2737;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.14;ReadPosRankSum=1.54;SOR=11.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,13:102:28:0|1:99884396_T_C:28,0,3378:99884396	11	0	8	0
chr1	110222977	110222977	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C692G:p.A231G,KCNC4:NM_001377330:exon2:c.C692G:p.A231G,KCNC4:NM_004978:exon2:c.C692G:p.A231G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.456	0.0722916072849	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0034	0.0008	0.0006	0.0008	0.0007	0.0006	0.0008	0.0008	0.0008	0	0.0003	0.0002	1.877e-05	0.0002	0.0008	0.0008	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.315	0.21144	T	0.051	0.42493	B	0.157	0.41053	B	0.000921	0.41028	D	0.275191	0.99437	0.42258	D	2.415	0.69758	M	-4.19	0.96908	D	-2.8	0.59226	D	0.438	0.47672	0.589	0.91750	D	0.723	0.90514	D	10	0.35339242	0.52146	T	0.072292	0.71493	D	0.456	0.75483	0.363	0.36874	0.993177892102	0.99310	0.7526387987383419	0.75210	1.08132311467	0.77145	0.672360956669	0.63174	T	0.667086	0.90076	D	0.175355	0.71615	D	0.0141088	0.71248	D	0.842766284942627	0.49555	D	0.923008	0.74652	D	0.2548791	0.48519	0.22605044	0.47570	0.2548791	0.48519	0.22605044	0.47569	-8.263	0.63102	D	.	.	0.237	0.47944	B	.;.;.	.;.;.	3.598856	0.50823	23.0	0.99047415397653182	0.51162	0.96210	0.68040	D	AEFDGBI	0.477094	0.52023	N	0.0886515093145786	0.45935	2.841749	0.218624017239798	0.50879	3.275622	0.993656479131254	0.33302	0.651	0.46895	0	0.588066	0.40923	0	0.723109	0.80598	0	0.683762	0.67416	0	.	.	4.88	4.88	0.63131	2.965000	0.48892	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.9187:0.0:0.0813	11.857	0.51719	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	2216.57	41	chr1	110222977	.	C	G	2216.57	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.991;DP=2097;ExcessHet=6.9875;FS=75.345;InbreedingCoeff=-0.4467;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.71;ReadPosRankSum=1.23;SOR=10.846	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:123,35:158:99:0|1:110222977_C_G:607,0,4670:110222977	7	0	10	2
chr1	110222980	110222980	C	G	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C695G:p.S232C,KCNC4:NM_001377330:exon2:c.C695G:p.S232C,KCNC4:NM_004978:exon2:c.C695G:p.S232C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.929	0.40933610176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.636e-05	0.0009	7.295e-05	5.971e-05	8.013e-05	5.553e-05	5.161e-05	6.603e-05	6.157e-05	3.015e-05	0	0	2.525e-05	0	0	8.013e-05	6.68e-05	2.327e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.992	0.90584	D	0.945	0.73362	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.905	0.96153	H	-4.48	0.97606	D	-4.53	0.78388	D	0.831	0.82660	1.099	0.99607	D	0.949	0.98331	D	10	0.8837731	0.87697	D	0.409336	0.93564	D	0.929	0.98304	0.653	0.79068	0.998239969463	0.99822	0.9428938060723817	0.94271	2.16590570783	0.95413	0.900061309338	0.96447	D	0.865354	0.97046	D	0.507574	0.94527	D	0.491319	0.94446	D	0.996615469455719	0.89714	D	0.968103	0.88413	D	0.81521255	0.84899	0.67973554	0.81184	0.81521255	0.84900	0.67973554	0.81185	-14.23	0.93792	D	.	.	0.990	0.93569	P	.;.;.	.;.;.	5.345809	0.89688	31	0.99023122748486747	0.50634	0.99055	0.90567	D	AEFDGBI	0.873031	0.79518	D	0.820546623686913	0.87372	9.195578	0.766985295263051	0.87421	9.215925	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	7.905000	0.86479	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2139.97	41	chr1	110222980	.	C	G	2139.97	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-4.477;DP=2106;ExcessHet=8.9063;FS=71.671;InbreedingCoeff=-0.4138;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.5;ReadPosRankSum=1.45;SOR=10.765	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,35:161:99:0|1:110222977_C_G:598,0,4747:110222977	8	0	11	0
chr1	110222982	110222982	C	T	exonic	KCNC4	.	nonsynonymous SNV	KCNC4:NM_001039574:exon2:c.C697T:p.L233F,KCNC4:NM_001377330:exon2:c.C697T:p.L233F,KCNC4:NM_004978:exon2:c.C697T:p.L233F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.748	0.257215744657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.44358	D	0.036	0.52060	D	0.092	0.67487	B	0.248	0.65830	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	-4.56	0.97772	D	-2.92	0.61129	D	0.71	0.71321	1.064	0.98441	D	0.913	0.97120	D	10	0.82669085	0.81846	D	0.257216	0.89360	D	0.748	0.91328	0.51	0.60693	0.998798673634	0.99879	0.8353798834876841	0.83497	2.2713391689	0.96273	0.879670739174	0.93916	D	0.684204	0.90757	D	0.250026	0.78605	D	0.121369	0.78326	D	0.976836979389191	0.71561	D	0.976702	0.93381	D	0.6352031	0.74575	0.47092855	0.69323	0.6352031	0.74577	0.47092855	0.69323	-10.787	0.78477	D	.	.	0.984	0.92685	P	.;.;.	.;.;.	4.840138	0.79009	27.0	0.99871710190157814	0.94902	0.98768	0.86602	D	AEFDGBI	0.882603	0.81085	D	0.464917858942242	0.65055	4.774502	0.528151035303576	0.69893	5.425667	0.999999999988739	0.74766	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	4.88	4.88	0.63131	6.148000	0.71557	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:1.0:0.0:0.0	18.385	0.90408	702	0.57624	Ion transport domain;Ion transport domain;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	940.8	41	chr1	110222982	.	C	T	940.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-5.687;DP=1389;ExcessHet=1.3;FS=68.969;InbreedingCoeff=-0.1515;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.34;ReadPosRankSum=1.39;SOR=8.909	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:126,13:151:37:.:.:480,0,4752:.	17	0	2	0
chr1	114732648	114732648	C	G	exonic	CSDE1	.	nonsynonymous SNV	CSDE1:NM_001242893:exon8:c.G913C:p.V305L,CSDE1:NM_001242892:exon9:c.G1006C:p.V336L,CSDE1:NM_007158:exon9:c.G913C:p.V305L,CSDE1:NM_001007553:exon10:c.G1006C:p.V336L,CSDE1:NM_001130523:exon10:c.G1051C:p.V351L,CSDE1:NM_001242891:exon11:c.G1144C:p.V382L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00302580783907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.572e-05	0.0005	3.966e-05	3.175e-05	4.338e-05	2.774e-05	2.512e-05	3.36e-05	2.971e-05	0	0	3.834e-05	0	0	0	4.338e-05	3.322e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.019	0.17989	B	0.007	0.12992	B	0.000054	0.53742	D	0.166893	0.995854	0.46032	D	-1.005	0.01165	N	.	.	.	1.46	0.00775	N	0.49	0.52651	-0.9514	0.40730	T	0.015	0.06186	T	9	0.1688331	0.31457	T	0.003026	0.06487	T	0.141	0.37795	0.283	0.23961	0.438345833192	0.43453	0.47999988597583465	0.47919	0.664778676347	0.59103	0.696112155914	0.66584	T	0.116941	0.43665	T	-0.00863497	0.50457	T	-0.25018	0.49799	T	0.698000967502594	0.40624	D	0.917108	0.76468	D	0.059146494	0.11985	0.09358893	0.22112	0.059146494	0.11985	0.09358893	0.22111	-6.727	0.59015	T	.	.	0.240	0.47513	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.228914	0.64023	24.7	0.79526294004721843	0.12782	0.91046	0.52754	D	AEFBCI	0.679294	0.64337	D	-0.4128236221243	0.25018	1.355104	-0.0758002100467609	0.36392	2.117378	0.809094888011598	0.24323	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.89	5.89	0.94758	4.456000	0.59820	7.732000	0.67763	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.1424:0.8576:0.0:0.0	15.011	0.71206	854	0.34840	.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	6987.05	189	chr1	114732648	.	C	G	6987.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.206;DP=2914;ExcessHet=25.4433;FS=278.375;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=1.01;SOR=12.498	GT:AD:DP:GQ:PL	0/1:124,74:202:99:669,0,1758	3	0	16	0
chr1	120449302	120449302	C	-	exonic	NBPF8	.	frameshift deletion	NBPF8:NM_001037501:exon9:c.888delC:p.Q298Sfs*18	.	412	1091	19	0	0	19	0.00863244	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319313670	0.0009	0.0012	0.0008	0.0010	0.0052	0.0009	0.0008	0.0039	0.0038	0.0002	0.0006	0.0025	2.519e-05	0	0.0052	0.0007	0.0010	0.0043	0.0008	0.0009	0.0007	0.0009	0.0062	0.0007	0.0006	0.0045	0.0039	0.0002	0	0.0010	0.0017	0	9.422e-05	0.0034	0.0009	0.0005	0.0062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1064.29	526	chr1	120449301	.	AC	A	1064.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.55;DP=2591;ExcessHet=0;FS=3.08;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.93;MQRankSum=-2.475;QD=3.07;ReadPosRankSum=-1.338;SOR=0.925	GT:AD:DP:GQ:PL	0/1:282,65:347:99:1078,0,8135	18	0	1	0
chr1	120830484	120830484	C	T	exonic	NBPF26	.	nonsynonymous SNV	NBPF26:NM_001351372:exon20:c.C2597T:p.S866L	.	804	706	12	0	0	12	0.00842697	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1268864713	0.0018	0.0032	0.0019	0.0018	0.0020	0.0017	0.0017	0.0019	0.0018	0.0007	0.0004	0.0021	0	0.0042	0.0012	0.0020	0.0016	0.0016	0.0020	0.0032	0.0017	0.0024	0.0043	0.0018	0.0017	0.0024	0.0018	0.0008	0.0017	0.0009	0.0016	0	0.0066	0	0.0021	0.0022	0.0043	.	.	.	0.285	0.31427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.165	0.17416	-1.0502	0.14341	T	0.010	0.03582	T	9	0.02374658	0.00631	T	0.001392	0.02037	T	.	.	.	.	0.185906805712	0.18197	0.008888954867445117	0.00851	.	.	.	.	.	.	.	.	-0.345525	0.05015	T	-0.734099	0.04145	T	0.1366984648069	0.15988	T	0.830817	0.54490	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.40114	B	.;.;.;.;.	.;.;.;.;.	0.058936	0.04704	1.342	0.24533630855159475	0.01089	0.00012	0.00170	N	AEFI	0.029886	0.02902	N	-0.81487840899404	0.12930	0.6335323	-1.12121065501673	0.07296	0.3543358	0.00728602839773751	0.11429	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.14	-2.28	0.06438	-2.140000	0.01387	-5.240000	0.01793	-1.021000	0.01731	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2612:0.2911:0.4477	2.403	0.04138	964	0.07719	Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain|Neuroblastoma breakpoint family (NBPF) domain|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|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	.	.	.	.	.	.	.	.	0.02778	40.72	35	chr1	120830484	.	C	T	40.72	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.804;DP=533;ExcessHet=0;FS=0;InbreedingCoeff=-0.0288;MLEAC=1;MLEAF=0.028;MQ=32.69;MQRankSum=0.122;QD=1.23;ReadPosRankSum=0.304;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,6:33:54:54,0,602	17	0	1	1
chr1	121382843	121382843	A	G	exonic	SRGAP2C	.	nonsynonymous SNV	SRGAP2C:NM_001271872:exon8:c.A971G:p.D324G,SRGAP2C:NM_001329984:exon8:c.A974G:p.D325G	.	683	837	2	0	0	2	0.00119332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.964e-06	1.59e-06	0	3.664e-06	0.0004	0	0	.	.	0	0	0	0	0	0.0004	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.92824	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.92	0.92317	.	.	.	.	.	.	.	0.8682883	0.86083	D	.	.	.	.	.	.	.	0.173771789658	0.16945	0.8009779252245498	0.80051	.	.	.	.	.	0.426986	0.77661	T	0.532045	0.95201	D	0.526469	0.95130	D	.	.	.	0.999138	0.99663	D	0.20690127	0.42880	0.46359885	0.68862	0.20690127	0.42880	0.46359885	0.68862	-11.267	0.81102	D	.	.	0.867	0.80729	P	.;.	.;.	5.173476	0.86723	29.0	0.92405727635104196	0.21819	0.95933	0.66783	D	AEFI	.	.	.	.	.	.	.	.	.	0.0403644257333553	0.14436	0.322412	0.05557	0	0.31918	0.05746	0	0.331037	0.05861	0	0.370666	0.05837	0	0.777903	0.46011	2.33	2.33	0.27981	9.118000	0.93675	11.279000	0.91668	0.351000	0.19951	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	1.0:0.0:0.0:0.0	8.239	0.30805	976	0.04745	F-BAR domain;F-BAR 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	.	.	.	.	.	.	.	.	0.05263	319.98	2	chr1	121382843	.	A	G	319.98	.	AC=2;AF=0.053;AN=38;DP=336;ExcessHet=0;FS=0;InbreedingCoeff=0.6273;MLEAC=2;MLEAF=0.053;MQ=36.33;QD=26.66;SOR=1.445	GT:AD:DP:GQ:PL	1/1:0,12:12:36:346,36,0	18	1	0	0
chr1	145872713	145872713	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1786C:p.A596P,ANKRD35:NM_144698:exon10:c.G2056C:p.A686P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1581.67	33	chr1	145872713	.	C	G	1581.67	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-3.79;DP=2324;ExcessHet=8.9063;FS=153.011;InbreedingCoeff=-0.4246;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=0.037;SOR=11.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,42:146:99:0|1:145872713_C_G:376,0,3106:145872713	8	0	11	0
chr1	145872714	145872714	C	G	exonic	ANKRD35	.	nonsynonymous SNV	ANKRD35:NM_001280799:exon8:c.G1785C:p.E595D,ANKRD35:NM_144698:exon10:c.G2055C:p.E685D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1091.56	162	chr1	145872714	.	C	G	1091.56	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.472;DP=2468;ExcessHet=6.9875;FS=132.372;InbreedingCoeff=-0.388;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=0.29;SOR=11.634	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,42:146:99:0|1:145872713_C_G:376,0,3106:145872713	9	0	10	0
chr1	146067235	146067235	C	T	exonic	NBPF10	.	nonsynonymous SNV	NBPF10:NM_001039703:exon85:c.G10582A:p.E3528K,NBPF10:NM_001302371:exon89:c.G11089A:p.E3697K	.	651	848	21	2	0	25	0.0145264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	0.3095	0.25	0	0	.	0.3557	0.5	0.25	0.0018826	49	26028	rs782346895	0.0009	0.0030	0.0007	0.0010	0.0046	0.0008	0.0008	0.0040	0.0037	0.0016	0.0017	0.0002	0.0046	0.0005	0.0010	0.0004	0.0011	0.0008	0.0005	0.0017	0.0005	0.0005	0.0016	0.0004	0.0004	0.0007	0.0006	0.0010	0	0.0006	0	0.0016	0.0002	0	0.0001	0.0007	0.0011	.	.	.	0.051	0.47828	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.25867	.	.	.	.	.	.	.	0.028234512	0.00958	T	.	.	.	.	.	.	.	.	.	0.008707865764252615	0.00834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.676832	0.35895	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.291	0.52285	B	.;.	.;.	-0.114190	0.03558	0.685	.	.	.	.	.	.	0.017718	0.00484	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.877000	0.04305	0.000000	0.13247	.	.	0.001000	0.13787	0.033000	0.21346	.	.	.	.	.	958	0.09170	Neuroblastoma breakpoint family (NBPF) domain;Neuroblastoma breakpoint family (NBPF) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.089744	0.045455	0.224138	0.100000	0.000000	0.000000	0.076923	0.033333	0.05263	249.86	33	chr1	146067235	.	C	T	249.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.758;DP=520;ExcessHet=0.119;FS=3.623;InbreedingCoeff=-0.0566;MLEAC=2;MLEAF=0.053;MQ=41.8;MQRankSum=-3.791;QD=2.91;ReadPosRankSum=0.737;SOR=0.339	GT:AD:DP:GQ:PL	0/1:42,10:52:96:96,0,1372	17	0	2	0
chr1	149079127	149079127	C	G	exonic	NBPF9	.	nonsynonymous SNV	NBPF9:NM_001037675:exon4:c.G373C:p.E125Q,NBPF9:NM_001277444:exon4:c.G373C:p.E125Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	.	.	0.0644	0.0770	0.0487	0.0410	0.0303	0.0633	0.0866	0.0969	0.0106808	278	26028	.	8.799e-07	7.127e-05	1.795e-06	0	1.217e-06	0	0	.	.	0	0	0	0	0	0	1.217e-06	0	0	6.917e-05	0.0006	9.41e-05	4.275e-05	0.0002	3.691e-05	2.843e-05	6.773e-05	4.555e-05	0.0002	0	0	0	0.0002	9.903e-05	0	1.515e-05	0	0.0002	.	.	.	0.199	0.27679	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.05414	-0.9539	0.40292	T	0.001	0.00318	T	6	0.0030939877	0.00051	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.547456741333	0.45498	T	.	.	.	-0.147531	0.28698	T	-0.449695	0.27730	T	0.00119219371206561	0.00012	T	0.891311	0.66975	D	0.099779524	0.23552	0.08344974	0.19124	0.099779524	0.23552	0.08344974	0.19124	-9.559	0.71226	D	.	.	0.079	0.36869	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.030248	0.04496	1.203	0.057885152920866254	0.00015	0.00003	0.00079	N	AEFI	0.013383	0.00176	N	-1.68197913367445	0.00907	0.03928493	-1.79824352941992	0.00765	0.03410724	1.92802502388975E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	0.521	-1.04	0.09555	-0.551000	0.06117	-1.586000	0.05115	-1.150000	0.01427	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	.	.	.	889	0.27310	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.07895	77.23	36	chr1	149079127	.	C	G	77.23	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.324;DP=580;ExcessHet=0.3672;FS=65.39;InbreedingCoeff=-0.085;MLEAC=2;MLEAF=0.053;MQ=35.5;MQRankSum=-1.552;QD=1.06;ReadPosRankSum=-1.25;SOR=5.668	GT:AD:DP:GQ:PL	0/1:16,2:18:9:9,0,573	16	0	3	0
chr1	149517471	149517471	A	T	exonic	NBPF19	.	nonsynonymous SNV	NBPF19:NM_001351365:exon46:c.A5621T:p.Q1874L	.	816	705	1	0	0	1	0.000708717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185344434	0.0011	0.0010	0.0013	0.0009	0.0091	0.0010	0.0010	0.0076	0.0071	0	0	0.0011	0.0091	0.0054	0	0.0002	0.0019	0.0009	0.0004	0.0010	0.0003	0.0005	0.0020	0.0002	0.0001	3.174e-05	1.31e-05	0	0	0	0.0015	0.0020	0.0034	0	0.0002	0	0	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.098	0.07949	-0.9281	0.44415	T	0.006	0.02168	T	4	0.024324328	0.00665	T	9.58E-4	0.00980	T	.	.	.	.	0.0806252709748	0.07271	.	.	.	.	.	.	.	0.010577	0.09538	T	-0.20922	0.19490	T	-0.538307	0.18463	T	0.0881984476856418	0.11002	T	0.853215	0.53849	D	0.09412004	0.22122	0.25445613	0.51111	0.09412004	0.22122	0.25445613	0.51110	-10.94	0.79328	D	.	.	.	.	.	.	.	1.737957	0.22118	15.49	0.64021622242399012	0.07380	0.00373	0.01896	N	AEFI	.	.	.	-0.976898481875597	0.09099	0.4292426	-1.22424766267977	0.05523	0.2633597	1.45338730776636E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	0.811000	0.26855	-15.477000	0.00355	.	.	0.036000	0.20778	0.000000	0.08366	.	.	.	.	.	804	0.43891	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	.	.	.	.	.	.	.	.	0.0625	777.36	.	chr1	149517471	.	A	T	777.36	.	AC=2;AF=0.063;AN=32;BaseQRankSum=1.24;DP=381;ExcessHet=0.1424;FS=4.755;InbreedingCoeff=-0.0671;MLEAC=2;MLEAF=0.063;MQ=37.55;MQRankSum=-1.807;QD=11.11;ReadPosRankSum=2.16;SOR=1.287	GT:AD:DP:GQ:PL	0/1:26,13:39:99:262,0,608	14	0	2	3
chr1	150473141	150473141	C	T	exonic	RPRD2	.	nonsynonymous SNV	RPRD2:NM_001297674:exon10:c.C4115T:p.P1372L,RPRD2:NM_015203:exon11:c.C4193T:p.P1398L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00650025399982	0.0002	.	8.314e-05	0	0	0.0006	0	4.52e-05	0.0022	0	6.47e-05	10	154602	rs369152525	3.558e-05	3.557e-05	2.451e-05	4.676e-05	0.0006	2.763e-05	2.502e-05	0.0004	0.0004	0	0	0.0002	0.0006	0	0	1.439e-05	9.939e-05	2.319e-05	4.596e-05	4.593e-05	3.854e-05	5.37e-05	0.0004	2.108e-05	1.526e-05	7.293e-05	3.03e-05	0	0	0	0	0.0004	0	0	4.41e-05	0	0.0004	0.003	0.68238	D	0.011	0.64786	D	0.16	0.28337	B	0.06	0.26717	B	0.039592	0.24153	N	0.395014	0.540086	0.31419	N	0.55	0.14455	N	0.94	0.43672	T	-1.84	0.43149	N	0.201	0.32037	-1.0887	0.05752	T	0.028	0.11926	T	10	0.043866336	0.03283	T	0.006	0.17129	T	0.035	0.08770	.	.	0.0675242888579	0.06100	0.3461243475387154	0.34526	0.217698442251	0.24293	0.446594148874	0.31478	T	0.023304	0.17814	T	-0.410387	0.01976	T	-0.507259	0.21597	T	0.0584424013723955	0.06921	T	0.741226	0.36032	T	0.06642623	0.14291	0.08423271	0.19361	0.06642623	0.14290	0.08423271	0.19361	-4.05	0.24549	T	.	.	0.090	0.12465	B	.;.	.;.	2.259363	0.28866	17.94	0.95054547439095494	0.26075	0.76675	0.37624	D	AEFBCI	.	.	.	-0.323738044313159	0.28249	1.556557	-0.189718431869534	0.31914	1.81058	0.273121819482342	0.18913	0.67177	0.52595	0	0.702456	0.74545	0	0.688494	0.62686	0	0.683762	0.67416	0	.	.	4.47	3.54	0.39650	1.545000	0.35775	4.014000	0.41189	0.599000	0.40250	0.978000	0.35038	0.999000	0.35428	0.991000	0.66497	0.3332:0.5808:0.0:0.0859	6.794	0.22898	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1480.33	38	chr1	150473141	.	C	T	1480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=740;ExcessHet=0;FS=0.682;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.389;SOR=0.793	GT:AD:DP:GQ:PL	0/1:64,56:120:99:1494,0,1614	18	0	1	0
chr1	150553575	150553575	C	T	exonic	ADAMTSL4	.	nonsynonymous SNV	ADAMTSL4:NM_001288607:exon6:c.C584T:p.P195L,ADAMTSL4:NM_001288608:exon6:c.C584T:p.P195L,ADAMTSL4:NM_001378596:exon6:c.C584T:p.P195L,ADAMTSL4:NM_019032:exon6:c.C584T:p.P195L,ADAMTSL4:NM_025008:exon6:c.C584T:p.P195L	Ectopia lentis et pupillae, Autosomal recessive;Ectopia lentis, isolated, autosomal recessive, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	.	277171	not_provided|ADAMTSL4-related_disorder|Ectopia_lentis_2,_isolated,_autosomal_recessive	MedGen:C3661900|.|MONDO:MONDO:0009152,MedGen:C3541474,OMIM:225100,Orphanet:1885	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.080	.	0.0017	0.00299521	0.0008	0.0077	8.639e-05	0.0012	0	7.493e-05	0.0011	6.057e-05	0.0007956	123	154602	rs139990606	0.0003	0.0003	0.0003	0.0003	0.0085	0.0003	0.0003	0.0077	0.0074	0.0085	0.0004	0.0002	0.0008	0	0.0017	4.227e-05	0.0008	5.797e-05	0.0021	0.0021	0.0021	0.0020	0.0071	0.0019	0.0018	0.0064	0.0062	0.0071	0	0.0009	0	0.0004	0	0	2.943e-05	0.0005	0.0004	0.004	0.65419	D	0.031	0.62352	D	0.814	0.48154	P	0.122	0.36167	B	.	.	.	.	1	0.08975	N	1.495	0.37439	L	-0.16	0.65378	T	-2.04	0.46842	N	0.342	0.41063	-1.0993	0.04177	T	0.049	0.20750	T	9	0.0045513213	0.00094	T	.	.	.	0.080	0.23350	.	.	0.764317863173	0.76217	0.4136307985109546	0.41279	0.161310925367	0.18205	0.377757012844	0.21938	T	0.007129	0.06547	T	-0.468299	0.00871	T	-0.44159	0.28629	T	0.0101449848829457	0.00137	T	0.574643	0.20620	T	0.045548607	0.07475	0.064311706	0.12871	0.045548607	0.07474	0.064311706	0.12871	-4.548	0.31512	T	0.3185897759273933	0.41670	0.079	0.12371	B	.;.;.;.	.;.;.;.	2.397519	0.30800	18.55	0.99121636102400645	0.53011	0.09418	0.15178	N	AEFGBCI	0.059500	0.11243	N	-0.554865975683006	0.20332	1.071003	-0.661756969249833	0.17921	0.9550472	0.999997490563558	0.74766	0.660377	0.49826	0	0.550933	0.16991	0	0.696353	0.63694	0	0.592323	0.36904	0	.	.	4.54	1.38	0.21262	0.658000	0.24662	1.695000	0.28095	0.589000	0.31548	0.001000	0.13787	0.003000	0.18671	0.186000	0.21481	0.1672:0.5646:0.1639:0.1043	3.548	0.07391	114	0.95383	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	4427.33	41	chr1	150553575	.	C	T	4427.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=1675;ExcessHet=0;FS=9.932;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.21;ReadPosRankSum=1.13;SOR=1.104	GT:AD:DP:GQ:PL	0/1:212,183:395:99:4441,0,4801	18	0	1	0
chr1	152356170	152356170	C	T	exonic	FLG2	.	nonsynonymous SNV	FLG2:NM_001014342:exon3:c.G1616A:p.R539H	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.00224247427571	7.7e-05	0.000399361	0.0001	9.61e-05	0	0.0001	0	8.99e-05	0	0.0003	0.0001035	16	154602	rs146826451	0.0002	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0.0002	0	7.652e-05	0	0	0	0.0002	6.623e-05	0.0002	0.0001	0.0001	0.0001	8.073e-05	0.0008	6.517e-05	5.327e-05	0.0003	0.0002	7.235e-05	0	0	0	0.0002	0	0	0.0001	0	0.0008	0.128	0.26965	T	0.143	0.33219	T	0.975	0.58077	D	0.284	0.40463	B	.	.	.	.	1	0.08975	N	0.345	0.11182	N	1.96	0.22270	T	-0.52	0.16187	N	0.039	0.01274	-1.0018	0.29401	T	0.009	0.03359	T	9	0.02932924	0.01060	T	0.002242	0.04260	T	0.062	0.17934	.	.	0.224531998449	0.22054	0.06418679163347962	0.06357	0.0286366123003	0.02943	0.328885793686	0.14765	T	0.003125	0.02525	T	-0.55522	0.00271	T	-0.734988	0.04104	T	0.0329353256251841	0.02460	T	0.251575	0.03811	T	0.050055444	0.08985	0.045501113	0.06137	0.050055444	0.08984	0.045501113	0.06136	-2.002	0.03188	T	.	.	0.126	0.26794	B	.	.	1.827714	0.23222	15.93	0.82664128083105082	0.14310	0.11278	0.16527	N	AEFBCI	0.041804	0.06403	N	-0.636574827861413	0.17854	0.9222309	-0.759071453587636	0.15499	0.8154612	4.65471546857082E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	3.12	2.17	0.26736	0.417000	0.20934	.	.	0.429000	0.20894	0.091000	0.22601	0.000000	0.08366	0.807000	0.38039	0.0:0.8723:0.0:0.1277	8.220	0.30699	565	0.70868	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	12061.3	269	chr1	152356170	.	C	T	12061.3	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.79;DP=3557;ExcessHet=0;FS=1.745;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=1.35;SOR=0.88	GT:AD:DP:GQ:PL	0/1:411,444:855:99:12075,0,10502	18	0	1	0
chr1	155247852	155247852	C	T	exonic	FAM189B	.	nonsynonymous SNV	FAM189B:NM_198264:exon9:c.G1649A:p.R550H,FAM189B:NM_001267608:exon11:c.G1883A:p.R628H,FAM189B:NM_006589:exon12:c.G1937A:p.R646H	.	416	1101	5	0	0	5	0.00226552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	.	0.0002	0.00958466	0.0168	0	0.0020	0.0976	0.1083	0.0036	0.0408	0.0027	0.0038939	602	154602	rs2072648	0.0034	0.0034	0.0035	0.0034	0.0681	0.0034	0.0033	0.0658	0.0649	0	0.0002	0	0.0681	0.0319	0	0.0003	0.0030	0.0018	0.0045	0.0045	0.0027	0.0063	0.0441	0.0042	0.0041	0.0394	0.0376	9.62e-05	0	0.0003	0	0.0441	0.0350	0	0.0007	0.0028	0.0037	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000090	0.51296	D	0.000000	0.60774	0.30887	N	0.46	0.12951	N	3.89	0.03544	T	-0.6	0.22294	N	0.192	0.21056	-0.9662	0.37974	T	0.013	0.04890	T	10	0.0025410056	0.00038	T	.	.	.	0.183	0.45592	.	.	0.490352026379	0.48669	0.23767095121189646	0.23681	0.491203572652	0.47817	0.530864298344	0.43156	T	0.006491	0.05922	T	-0.492104	0.00633	T	-0.407583	0.32504	T	0.0761791280700723	0.09492	T	.	.	.	0.28279686	0.51315	0.2224794	0.47094	0.28279686	0.51315	0.2224794	0.47093	-4.786	0.34428	T	.	.	0.124	0.34316	B	.;.;.	.;.;.	3.858666	0.55945	23.7	0.99950056111878038	0.99938	0.95904	0.66656	D	AEFDBI	0.340160	0.43707	N	0.446140609408612	0.63985	4.643146	0.449401511807709	0.64677	4.728613	0.999877987710601	0.44625	0.706298	0.61202	0	0.709663	0.81188	0	0.80507	0.99327	0	0.714379	0.83352	0	.	.	4.51	4.51	0.54589	2.654000	0.46363	7.529000	0.59886	0.598000	0.34611	0.731000	0.28933	1.000000	0.68203	0.955000	0.50612	0.0:1.0:0.0:0.0	15.164	0.72489	41	0.97903	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005097	0.000000	0.005495	0.000000	0.050000	0.000000	0.006211	0.015152	0.02632	1044.33	37	chr1	155247852	.	C	T	1044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.361;DP=717;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.84;ReadPosRankSum=0.121;SOR=0.821	GT:AD:DP:GQ:PL	0/1:27,35:62:99:1058,0,722	18	0	1	0
chr1	155900413	155900413	C	T	exonic	RIT1	.	nonsynonymous SNV	RIT1:NM_001256820:exon5:c.G527A:p.R176Q,RIT1:NM_001256821:exon6:c.G686A:p.R229Q,RIT1:NM_006912:exon6:c.G635A:p.R212Q	Noonan syndrome 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1325132	Noonan_syndrome_and_Noonan-related_syndrome|Cardiovascular_phenotype|Noonan_syndrome_8	MONDO:MONDO:0020297,MedGen:C5681679,Orphanet:98733|MedGen:CN230736|MONDO:MONDO:0014143,MedGen:C3809233,OMIM:615355,Orphanet:648	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.068	0.00967116136273	.	.	5.767e-05	9.612e-05	0	0	0	1.499e-05	0	0.0003	4.53e-05	7	154602	rs764347644	3.079e-05	3.215e-05	2.042e-05	4.126e-05	0.0003	2.347e-05	2.095e-05	0.0002	0.0002	5.975e-05	0.0002	0	5.038e-05	0	0	6.296e-06	1.656e-05	0.0003	5.916e-05	5.911e-05	7.711e-05	4.036e-05	0.0006	3.078e-05	2.211e-05	0.0002	9e-05	7.241e-05	0	0.0001	0	0	0	0	1.47e-05	0	0.0006	0.028	0.50676	D	0.108	0.42976	T	0.364	0.33988	B	0.011	0.15521	B	0.015085	0.28344	N	0.277746	0.991843	0.41489	D	0	0.06538	N	-0.18	0.65747	T	-0.86	0.25118	N	0.319	0.42149	-1.0254	0.21952	T	0.068	0.27777	T	10	0.092461884	0.16284	T	0.009671	0.25267	T	0.068	0.19811	.	.	0.528917257038	0.52539	0.5239727958171749	0.52321	0.897822466154	0.70527	0.570383906364	0.48731	T	0.201293	0.55913	T	-0.234553	0.16052	T	-0.282547	0.46544	T	0.0307686324350781	0.02110	T	0.832517	0.50110	T	0.16185741	0.36223	0.100557	0.24048	0.16185741	0.36223	0.100557	0.24047	-6.998	0.54019	T	.	.	0.107	0.21987	B	.;.;.	.;.;.	3.577114	0.50415	22.9	0.99882151246915141	0.95813	0.85623	0.44775	D	AEFDGBHCI	0.324589	0.42643	N	-0.029855942118132	0.40507	2.406731	0.167347021362149	0.48069	3.02787	0.999999969834434	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.13	5.13	0.69729	3.483000	0.52958	4.812000	0.45049	0.545000	0.25583	0.999000	0.42656	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.359	0.90313	67	0.97183	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1355.33	33	chr1	155900413	.	C	T	1355.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.31;DP=769;ExcessHet=0;FS=1.422;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-0.142;SOR=0.881	GT:AD:DP:GQ:PL	0/1:87,53:140:99:1369,0,2100	18	0	1	0
chr1	156815838	156815838	G	C	exonic	NTRK1	.	nonsynonymous SNV	NTRK1:NM_001007792:exon1:c.G9C:p.E3D	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	0.0003	0.01	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.177	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.843e-07	0.0001	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.18198	N	.	.	.	-0.97	0.75670	T	-0.05	0.07736	N	0.05	0.02179	-0.9939	0.31591	T	0.083	0.32499	T	9	0.082740545	0.13688	T	0.007492	0.19872	T	0.177	0.44549	0.115	0.02372	0.51372946856	0.51013	.	.	.	.	.	.	.	.	.	.	-0.1645	0.26071	T	-0.474069	0.25079	T	0.22831466794014	0.21871	T	0.333767	0.07077	T	.	.	.	.	.	.	.	.	-3.709	0.19451	T	.	.	.	.	.	.	.	1.156672	0.15452	11.86	0.96680647164573041	0.30697	0.17383	0.19813	N	AEFGBCI	0.071145	0.14151	N	-0.913840955761567	0.10517	0.5029817	-0.907916361291049	0.11907	0.6094711	0.999995659671766	0.74766	0.541725	0.22260	1	0.459889	0.06624	1	0.616487	0.41570	0	0.635259	0.50027	0	.	.	4.23	2.36	0.28258	0.251000	0.18025	0.143000	0.15197	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.106000	0.18562	0.2157:0.0:0.7843:0.0	6.516	0.21443	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	128.33	119	chr1	156815838	.	G	C	128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.519;DP=1883;ExcessHet=0;FS=80.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=1.09;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,23:147:99:0|1:156815838_G_C:142,0,4380:156815838	18	0	1	0
chr1	156815839	156815839	G	C	splicing	NTRK1	NM_001007792:exon1:c.9+1G>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	0.0001	0.002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.214e-06	0.0002	1.09e-05	5.503e-06	2.988e-05	4.38e-06	3.46e-06	5.31e-06	3.88e-06	2.988e-05	0	0	0	0	0	9.899e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.996889	0.22868	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.368844	0.03652	T	-0.767596	0.02848	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.462841	0.18854	13.96	0.7159568618309291	0.09682	0.05745	0.11673	N	AEFGBCI	.	.	.	-0.545425066812517	0.20627	1.088785	-0.702648580947352	0.16894	0.8958837	0.999991161713536	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.11426	0.24032	4.23	1.31	0.20837	-0.173000	0.09844	0.057000	0.14080	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.102000	0.18378	0.2167:0.2117:0.5716:0.0	4.184	0.09851	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05882	340.42	119	chr1	156815839	.	G	C	340.42	.	AC=2;AF=0.059;AN=34;BaseQRankSum=-3.812;DP=2091;ExcessHet=0.119;FS=190.118;InbreedingCoeff=-0.0872;MLEAC=2;MLEAF=0.059;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=1.51;SOR=9.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,23:147:99:0|1:156815838_G_C:142,0,4380:156815838	15	0	2	2
chr1	156815840	156815840	T	C	splicing	NTRK1	NM_001007792:exon1:c.9+2T>C	.	.	Insensitivity to pain, congenital, with anhidrosis, Autosomal recessive;Medullary thyroid carcinoma, familial, Autosomal dominant	.	.	.	.	.	.	.	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998468	0.22137	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.503101	0.00549	T	-0.960446	0.00231	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.307850	0.02582	0.317	0.59977697429656796	0.06352	0.01792	0.05602	N	AEFGBCI	.	.	.	-1.08617453158003	0.06898	0.3188359	-1.35950259107624	0.03695	0.1728951	0.999999997695394	0.74766	0.125411	0.03135	0	0.10752	0.03338	0	0.127595	0.03524	0	0.057669	0.00882	0	0.112941	0.23894	4.23	-8.46	0.00822	-3.648000	0.00453	-5.931000	0.01549	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.092000	0.17891	0.0947:0.5942:0.1907:0.1204	4.498	0.11261	721	0.55360	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	128.33	119	chr1	156815840	.	T	C	128.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.697;DP=1744;ExcessHet=0;FS=80.566;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.88;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:124,23:147:99:0|1:156815838_G_C:142,0,4380:156815838	18	0	1	0
chr1	160951056	160951056	C	T	exonic	ITLN2	.	nonsynonymous SNV	ITLN2:NM_080878:exon4:c.G428A:p.S143N	.	.	.	.	.	.	.	.	.	.	.	2355776	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.079	0.0138581911057	0.0010	.	0.0006	9.61e-05	0.0003	0	0	0.0010	0	0	0.0006468	100	154602	rs147123034	0.0014	0.0014	0.0014	0.0013	0.0017	0.0013	0.0013	0.0016	0.0016	8.961e-05	0.0002	0	0	0.0003	0	0.0017	0.0011	0	0.0009	0.0009	0.0011	0.0008	0.0018	0.0008	0.0007	0.0016	0.0015	0.0003	0	0.0002	0	0	0	0	0.0018	0.0005	0	0.127	0.27080	T	0.162	0.31225	T	0.076	0.24253	B	0.049	0.25116	B	0.000005	0.62929	U	0.000000	0.72672	0.29869	N	2.12	0.58754	M	2.02	0.21119	T	-1.56	0.37759	N	0.314	0.35408	-1.0864	0.06155	T	0.037	0.16160	T	10	0.02404958	0.00649	T	0.013858	0.33577	T	0.079	0.23065	.	.	0.261217442401	0.25729	0.24266874881035477	0.24180	0.253798245579	0.27947	0.51683139801	0.41181	T	0.035435	0.23719	T	-0.557585	0.00262	T	-0.614242	0.11642	T	0.0459300362932537	0.04771	T	0.831917	0.49916	T	0.21740143	0.44222	0.18380553	0.41393	0.21740143	0.44222	0.18380553	0.41392	-6.106	0.47158	T	.	.	0.254	0.48827	B	.	.	1.865298	0.23694	16.12	0.97119082174794713	0.32447	0.19180	0.20559	N	AEFDGBI	0.179788	0.30708	N	-0.299820106616839	0.29156	1.614339	-0.338107943162816	0.26879	1.487622	0.999734210256563	0.42341	0.653281	0.48532	0	0.610034	0.51514	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	3.94	3.94	0.44807	1.409000	0.34288	1.456000	0.26643	0.465000	0.21702	0.038000	0.20882	0.011000	0.20116	0.012000	0.09680	0.0:1.0:0.0:0.0	13.825	0.62839	620	0.66037	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2828.33	47	chr1	160951056	.	C	T	2828.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.639;DP=2535;ExcessHet=0;FS=3.462;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=-1.073;QD=10.96;ReadPosRankSum=-0.7;SOR=0.913	GT:AD:DP:GQ:PL	0/1:139,119:258:99:2842,0,3438	18	0	1	0
chr1	161048864	161048864	C	G	exonic	ARHGAP30	.	nonsynonymous SNV	ARHGAP30:NM_001287602:exon8:c.G1626C:p.K542N,ARHGAP30:NM_001287600:exon11:c.G1713C:p.K571N,ARHGAP30:NM_001025598:exon12:c.G2157C:p.K719N	.	371	1150	1	0	0	1	0.000434594	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.00594878585391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.237e-05	0.0009	1.505e-05	9.664e-06	2.999e-05	7.73e-06	6.38e-06	9.36e-06	7.65e-06	2.999e-05	0	0	0	0	0	1.537e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.563	0.06691	T	0.539	0.12037	T	0.0	0.02946	B	0.001	0.04355	B	0.167583	0.17472	N	0.469196	1	0.19238	N	0.55	0.14455	N	3.07	0.30133	T	0.59	0.02558	N	0.032	0.00825	-0.9399	0.42632	T	0.010	0.03673	T	10	0.032844096	0.01445	T	0.005949	0.15520	T	0.026	0.05648	0.085	0.00830	0.082315109003	0.07666	0.020223521516263606	0.01975	0.0321919343221	0.03346	0.227677255869	0.01800	T	0.007284	0.06695	T	-0.397532	0.02403	T	-0.808803	0.01692	T	0.0349868424236774	0.02805	T	0.608539	0.22995	T	0.041750744	0.06205	0.033273403	0.02195	0.041750744	0.06205	0.033273403	0.02195	-4.588	0.32020	T	.	.	0.104	0.29560	B	.;.	.;.	0.272084	0.06499	2.975	0.87093396735068451	0.16984	0.17351	0.19799	N	AEFDBCI	0.077101	0.15528	N	-1.02014869570935	0.08186	0.382952	-0.959379613406779	0.10706	0.5409345	0.999970802198825	0.50053	0.67177	0.52595	0	0.702456	0.74545	0	0.590023	0.30420	0	0.567892	0.33627	0	.	.	4.64	2.21	0.27042	0.214000	0.17331	0.493000	0.18920	0.587000	0.30956	0.000000	0.06391	0.004000	0.18990	0.038000	0.14061	0.2667:0.4814:0.1544:0.0974	2.806	0.05095	531	0.73574	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	3525.44	257	chr1	161048864	.	C	G	3525.44	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-5.652;DP=3787;ExcessHet=11.1788;FS=204.532;InbreedingCoeff=-0.4729;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.07;SOR=13.483	GT:AD:DP:GQ:PL	0/1:157,43:205:99:176,0,3167	7	0	12	0
chr1	165743215	165743215	G	C	exonic	TMCO1	.	nonsynonymous SNV	TMCO1:NM_001256164:exon6:c.C471G:p.D157E,TMCO1:NM_001256165:exon6:c.C384G:p.D128E,TMCO1:NM_019026:exon6:c.C420G:p.D140E	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.00561825470216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.32355	T	0.36	0.33860	B	0.366	0.43381	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.23	0.30720	L	.	.	.	.	.	.	0.873	0.94550	-0.9809	0.34794	T	0.105	0.38513	T	8	0.7058418	0.72732	D	0.005618	0.14530	T	0.283	0.60100	0.787	0.90993	0.162503812791	0.15892	0.8982099665768731	0.89791	0.898319418033	0.70545	0.813728034496	0.84064	D	0.273669	0.64613	T	0.317	0.84250	D	0.217429	0.84044	D	0.938554227352142	0.60927	D	0.90061	0.74830	D	0.30915323	0.53713	0.28407496	0.54403	0.30915323	0.53713	0.28407496	0.54403	.	.	.	.	.	0.877	0.81325	P	.;.;.;.;.;.	.;.;.;.;.;.	3.073706	0.41320	21.3	0.99659428855862664	0.77820	0.98300	0.81404	D	AEFGBI	0.671349	0.63812	D	-0.0328772314455231	0.40371	2.396296	0.0994292813719545	0.44519	2.732209	0.972625305894158	0.29387	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	6.17	4.33	0.51083	5.433000	0.66269	5.507000	0.48788	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.1486:0.0:0.8514:0.0	11.107	0.47427	893	0.26510	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08824	118.97	88	chr1	165743215	.	G	C	118.97	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.885;DP=1613;ExcessHet=0.3672;FS=217.04;InbreedingCoeff=-0.1466;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.48;ReadPosRankSum=0.688;SOR=10.986	GT:AD:DP:GQ:PL	0/1:48,19:67:58:58,0,773	14	0	3	2
chr1	167094904	167094904	G	A	exonic	STYXL2	.	nonsynonymous SNV	STYXL2:NM_001080426:exon2:c.G55A:p.E19K	.	428	1092	2	0	0	2	0.000914913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	0.00671994760023	.	.	4.051e-05	0.0001	0	0	0	1.795e-05	0	0.0002	3.23e-05	5	154602	rs745821607	3.56e-05	3.557e-05	3.405e-05	3.716e-05	0.0003	2.764e-05	2.503e-05	6.094e-05	2.672e-05	0	0	0	0	0	0.0003	3.328e-05	9.944e-05	8.153e-05	1.973e-05	1.97e-05	2.571e-05	1.346e-05	2.941e-05	5.25e-06	2.46e-06	4.88e-06	1.83e-06	2.416e-05	0	0	0	0	0	0	2.941e-05	0	0	0.008	0.58626	D	0.096	0.39340	T	0.892	0.49086	P	0.113	0.31689	B	0.558742	0.11358	N	0.758643	0.977486	0.25309	N	1.78	0.46185	L	3.81	0.03754	T	-0.39	0.13611	N	0.33	0.48963	-0.9095	0.46916	T	0.005	0.01542	T	10	0.15486172	0.29201	T	0.00672	0.17756	T	0.137	0.36984	.	.	0.325263233342	0.32141	0.6024434552373764	0.60175	0.0800996958353	0.09014	0.426671028137	0.28753	T	0.00285	0.02248	T	-0.297664	0.08882	T	-0.428682	0.30084	T	0.125325334306217	0.14943	T	0.79822	0.44280	T	0.1952566	0.41307	0.13140833	0.31554	0.1952566	0.41307	0.13140833	0.31553	-4.145	0.25951	T	.	.	0.083	0.14201	B	.;.;.	.;.;.	2.718806	0.35558	19.93	0.99870873936547555	0.94815	0.64024	0.32274	D	AEFDBCI	0.596596	0.59070	D	0.0688983712646746	0.45016	2.765334	0.12843882621231	0.46011	2.854148	0.999999999568743	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.467745	0.07146	0	0.564101	0.26826	0	.	.	5.27	5.27	0.73797	4.450000	0.59781	5.699000	0.49371	0.676000	0.76740	0.985000	0.35982	1.000000	0.68203	0.132000	0.19645	0.0:0.0:1.0:0.0	16.393	0.83384	824	0.40336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1364.33	37	chr1	167094904	.	G	A	1364.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.43;DP=740;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=-1.671;SOR=0.712	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1378,0,1049	18	0	1	0
chr1	175160810	175160810	C	0	exonic	KIAA0040	.	.	.	.	430	141	484	211	256	1162	0.762626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3158	18693.2	75	chr1	175160810	.	C	*	18693.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=1.04;DP=1448;ExcessHet=1.8686;FS=0.62;InbreedingCoeff=-0.0857;MLEAC=12;MLEAF=0.316;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.21;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,28:65:99:1|0:175160788_C_CCTT:1037,0,1415:175160788	9	2	8	0
chr1	179903964	179903964	A	C	splicing	TOR1AIP1	NM_001267578:exon6:c.743-2A>C;NM_015602:exon6:c.740-2A>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.878549	0.35703	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.256537	0.13309	T	-0.606274	0.12289	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	4.233948	0.64133	24.7	0.80054460604190703	0.13023	0.68779	0.33932	D	AEFBI	.	.	.	0.627468078035172	0.74919	6.21507	0.341725435525886	0.58011	3.969298	0.389250930296501	0.20031	0.295142	0.05270	0	0.30413	0.05452	0	0.060301	0.00762	0	0.089874	0.02613	0	0.187005	0.29800	4.36	3.14	0.35196	2.145000	0.41830	4.074000	0.41688	0.756000	0.94297	0.987000	0.36337	0.918000	0.28264	0.821000	0.38685	0.7895:0.0:0.0:0.2105	6.691	0.22360	418	0.81602	.;.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	247.92	.	chr1	179903964	.	A	C	247.92	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.684;DP=881;ExcessHet=0.3672;FS=124.73;InbreedingCoeff=-0.1014;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.18;ReadPosRankSum=1.52;SOR=7.476	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,13:64:95:0|1:179903957_A_C:95,0,1429:179903957	15	0	3	1
chr1	180014239	180014239	G	C	exonic	CEP350	.	nonsynonymous SNV	CEP350:NM_014810:exon10:c.G1786C:p.V596L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.565	0.138735317183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.131	0.34596	T	0.997	0.70673	D	0.933	0.66815	D	0.000494	0.43931	D	0.000000	1	0.81001	D	2.515	0.73286	M	-2.57	0.89692	D	-1.93	0.44852	N	0.804	0.79986	0.672	0.92822	D	0.818	0.93855	D	9	0.7784072	0.77650	D	0.138735	0.82122	D	0.565	0.82232	0.251	0.18912	0.933423527662	0.93273	0.2305698346646848	0.22971	0.406491481352	0.41524	0.817128300667	0.84587	D	0.124088	0.44888	T	0.411747	0.90578	D	0.353669	0.90461	D	0.993486225605011	0.84301	D	0.907609	0.67324	D	0.52510554	0.68551	0.5940318	0.76435	0.52510554	0.68552	0.5940318	0.76436	-8.814	0.66492	D	.	.	0.957	0.87648	P	.	.	4.238175	0.64232	24.7	0.99861407413495462	0.94002	0.99292	0.94053	D	AEFGBI	0.815095	0.73715	D	0.861085333927434	0.89729	10.09338	0.856523218067628	0.93392	12.01194	0.999999999986871	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.6	5.6	0.84997	9.516000	0.97042	11.877000	0.98731	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.577	0.95445	185	0.92771	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.09375	114.16	65	chr1	180014239	.	G	C	114.16	.	AC=3;AF=0.094;AN=32;BaseQRankSum=-3.228;DP=1733;ExcessHet=0.3672;FS=234.926;InbreedingCoeff=-0.1582;MLEAC=3;MLEAF=0.094;MQ=60;MQRankSum=0;QD=0.43;ReadPosRankSum=0.066;SOR=11.592	GT:AD:DP:GQ:PL	0/1:70,23:96:53:53,0,1547	13	0	3	3
chr1	186367938	186367938	T	G	exonic	TPR	.	nonsynonymous SNV	TPR:NM_003292:exon4:c.A375C:p.R125S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.198	0.0453209994512	.	.	8.642e-06	0	0	0	0	1.578e-05	0	0	6.5e-06	1	154602	rs747303433	4.112e-06	4.104e-06	5.456e-06	2.755e-06	5.398e-06	1.48e-06	9.7e-07	1.94e-06	1.28e-06	0	0	0	0	0	0	5.398e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.233	0.30926	T	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1.000	0.47320	D	2.295	0.65404	M	1.53	0.30401	T	-1.36	0.33798	N	0.633	0.77039	-1.0120	0.26291	T	0.117	0.41209	T	10	0.5735104	0.65450	D	0.045321	0.61926	D	0.198	0.48105	0.244	0.17830	0.490693190711	0.48701	0.4342097366556817	0.43337	0.466613555012	0.46060	0.670502722263	0.62910	T	0.036415	0.24096	T	0.0928061	0.63503	D	-0.040821	0.67645	D	0.844201743602753	0.49674	D	0.963204	0.91007	D	0.6733976	0.76615	0.35537648	0.61066	0.6733976	0.76616	0.35537648	0.61065	-3.334	0.14180	T	.	.	0.581	0.68094	P	.;.	.;.	4.432966	0.68763	25.3	0.99513504139471454	0.68799	0.96593	0.69919	D	AEFGBI	0.654002	0.62684	D	0.463460799787433	0.64971	4.764123	0.473582472609067	0.66245	4.927008	0.997942040630651	0.36224	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	6.08	3.81	0.43020	4.786000	0.62117	4.137000	0.42065	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.143:0.0:0.857	9.329	0.37172	307	0.87649	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	764.33	36	chr1	186367938	.	T	G	764.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=704;ExcessHet=0;FS=0.882;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.8;ReadPosRankSum=1.87;SOR=0.841	GT:AD:DP:GQ:PL	0/1:45,33:78:99:778,0,1056	18	0	1	0
chr1	201135776	201135776	C	T	exonic	TMEM9	.	nonsynonymous SNV	TMEM9:NM_001288565:exon5:c.G439A:p.G147R,TMEM9:NM_001288564:exon6:c.G439A:p.G147R,TMEM9:NM_001288566:exon6:c.G439A:p.G147R,TMEM9:NM_001288567:exon6:c.G439A:p.G147R,TMEM9:NM_001288568:exon6:c.G439A:p.G147R,TMEM9:NM_001288569:exon6:c.G439A:p.G147R,TMEM9:NM_001288570:exon6:c.G448A:p.G150R,TMEM9:NM_001288571:exon6:c.G514A:p.G172R,TMEM9:NM_016456:exon6:c.G439A:p.G147R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00906955618678	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.164e-06	6.156e-06	9.54e-06	2.753e-06	6.299e-06	2.9e-06	2.1e-06	2.62e-06	1.68e-06	0	0	0	0	0	0	6.299e-06	3.317e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.852	0.03005	T	0.396	0.15255	T	0.001	0.07471	B	0.003	0.08700	B	0.006558	0.31955	N	0.140101	0.999827	0.20203	N	0.05	0.08135	N	.	.	.	0.72	0.02099	N	0.435	0.61426	-1.0124	0.26165	T	0.055	0.23148	T	9	0.13126945	0.24983	T	0.00907	0.23869	T	0.087	0.25287	0.373	0.38503	0.472102515431	0.46837	0.43048907856438506	0.42965	0.491041322685	0.47806	0.504313290119	0.39428	T	0.016918	0.13896	T	-0.153603	0.27749	T	-0.458417	0.26771	T	0.815807700157166	0.47463	D	0.753825	0.37593	T	0.04458247	0.07153	0.044720333	0.05858	0.04458247	0.07152	0.044720333	0.05858	-2.877	0.08915	T	.	.	0.152	0.36234	B	.;.;.;.;.	.;.;.;.;.	3.425535	0.47581	22.5	0.99305663299149161	0.58795	0.19602	0.20724	N	AEFBI	0.249704	0.36989	N	-0.688561751151728	0.16347	0.8320101	-0.581142962930112	0.19985	1.07472	0.979070323950974	0.29989	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.72	3.8	0.42887	4.850000	0.62587	4.755000	0.44682	0.549000	0.26987	0.980000	0.35271	1.000000	0.68203	0.904000	0.43992	0.0:0.8199:0.0:0.1801	8.452	0.32035	928	0.17405	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1528.33	34	chr1	201135776	.	C	T	1528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=780;ExcessHet=0;FS=4.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-0.175;SOR=0.425	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1542,0,1746	18	0	1	0
chr1	201386508	201386508	T	C	exonic	LAD1	.	nonsynonymous SNV	LAD1:NM_005558:exon3:c.A853G:p.T285A	.	416	1091	15	0	0	15	0.00682749	.	.	.	4020796	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	0.00215725915153	.	0.000998403	0.0034	0.0003	0.0019	0	0.0002	0.0055	0.0050	0.0004	0.0030595	473	154602	rs199579589	0.0031	0.0031	0.0030	0.0031	0.0068	0.0030	0.0030	0.0051	0.0045	0.0005	0.0029	0.0018	2.529e-05	0.0002	0.0068	0.0036	0.0029	0.0007	0.0027	0.0027	0.0029	0.0024	0.0046	0.0025	0.0024	0.0041	0.0040	0.0005	0	0.0041	0.0017	0	0.0003	0.0068	0.0046	0.0019	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.07471	B	0.001	0.04355	B	0.023539	0.01594	N	2.147060	1	0.08975	N	-0.49	0.02651	N	2.87	0.10386	T	0.31	0.04022	N	0.047	0.01911	-0.9386	0.42837	T	0.007	0.02558	T	10	0.0033936203	0.00059	T	0.002157	0.04043	T	0.019	0.03383	.	.	0.0138822411134	0.00435	0.06471795420376389	0.06410	0.101017976049	0.11413	0.271386504173	0.06323	T	0.030787	0.21738	T	-0.766274	0.00014	T	-0.872109	0.00723	T	0.000960221312585339	0.00009	T	0.336666	0.07200	T	0.014417047	0.00092	0.017198384	0.00027	0.014417047	0.00092	0.017198384	0.00027	-2.898	0.09123	T	.	.	0.059	0.00754	B	.;.	.;.	-0.565584	0.01668	0.119	0.17251376477950772	0.00495	0.00580	0.02616	N	AEFBCI	0.030474	0.03075	N	-1.58242822399693	0.01355	0.05902909	-1.49155796214791	0.02413	0.1109366	0.999631973349128	0.41205	0.732398	0.92422	0	0.626922	0.53725	0	0.743671	0.96076	0	0.542086	0.14980	0	.	.	5.47	-1.09	0.09397	-0.913000	0.04150	-1.896000	0.04535	-1.048000	0.01648	0.000000	0.06391	0.000000	0.08366	0.041000	0.14368	0.2428:0.3668:0.0:0.3904	3.288	0.06532	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	1	0	0.009567	0.010101	0.006793	0.020468	0.000000	0.000000	0.018293	0.000000	0.07895	4085.77	60	chr1	201386508	.	T	C	4085.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.941;DP=1048;ExcessHet=0;FS=3.089;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=21.62;ReadPosRankSum=1.37;SOR=0.449	GT:AD:DP:GQ:PL	0/1:45,34:79:99:769,0,1186	17	1	1	0
chr1	201983063	201983063	G	T	exonic	RNPEP	.	nonsynonymous SNV	RNPEP:NM_020216:exon1:c.G397T:p.A133S	.	.	.	.	.	.	.	.	.	.	.	2194515	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.016	0.0131697579586	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1281876553	8.011e-06	1.915e-05	7.207e-06	8.833e-06	0.0002	4.3e-06	3.14e-06	2.71e-06	1.74e-06	0	0	0	0	2.32e-05	0.0002	6.518e-06	1.761e-05	1.302e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29688	T	0.466	0.17750	T	0.001	0.07471	B	0.007	0.12992	B	0.018086	0.27565	N	0.331261	0.999381	0.21275	N	-0.55	0.02420	N	3.75	0.03922	T	-0.01	0.07155	N	0.039	0.01999	-0.9445	0.41895	T	0.007	0.02282	T	10	0.0611988	0.07635	T	0.01317	0.32362	T	0.016	0.02506	0.389	0.41115	0.222439326576	0.21863	0.306574377233197	0.30570	0.140086197031	0.15791	0.529822349548	0.43009	T	0.049765	0.28402	T	-0.321733	0.06756	T	-0.699924	0.05831	T	0.0620427113714354	0.07487	T	0.521348	0.16985	T	0.061722446	0.12815	0.069999345	0.14820	0.061722446	0.12814	0.069999345	0.14820	-3.894	0.22212	T	.	.	0.073	0.05935	B	.;.	.;.	1.463098	0.18861	13.96	0.97088810167198869	0.32315	0.37082	0.25680	N	ALL	0.167832	0.29454	N	-0.850022417469157	0.12048	0.5850068	-0.799767306504595	0.14501	0.7579927	0.999999999996167	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.581474	0.35302	0	.	.	3.81	0.454	0.15857	0.397000	0.20608	1.408000	0.26256	-0.171000	0.11205	0.000000	0.06391	0.254000	0.23938	0.955000	0.50612	0.1876:0.0:0.4605:0.3519	4.050	0.09270	740	0.53092	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	220.33	38	chr1	201983063	.	G	T	220.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.086;DP=546;ExcessHet=0;FS=1.393;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.89;ReadPosRankSum=1.29;SOR=1.022	GT:AD:DP:GQ:PL	0/1:20,12:32:99:234,0,451	18	0	1	0
chr1	202012720	202012720	G	A	exonic	ELF3	.	nonsynonymous SNV	ELF3:NM_001114309:exon5:c.G559A:p.G187R,ELF3:NM_004433:exon5:c.G559A:p.G187R	.	417	1094	10	1	0	12	0.00545455	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.0173454211129	0.0003	.	0.0004	0	0.0003	0	0	0.0003	0	0.0016	0.0003234	50	154602	rs151290080	0.0003	0.0003	0.0002	0.0004	0.0105	0.0003	0.0003	0.0084	0.0076	0	0.0001	0	2.526e-05	1.948e-05	0.0105	0.0002	0.0004	0.0015	0.0002	0.0002	0.0002	0.0002	0.0015	0.0001	0.0001	0.0007	0.0005	0	0	0	0	0	0	0.0068	0.0003	0	0.0015	0.23	0.38863	T	0.562	0.34716	T	0.06	0.23119	B	0.029	0.21540	B	0.013109	0.01355	U	7.741050	1	0.08975	N	1.67	0.42885	L	2.36	0.53731	T	-1.43	0.35194	N	0.301	0.34012	-1.0219	0.23096	T	0.144	0.46714	T	10	0.019317776	0.00430	T	0.017345	0.39013	T	0.105	0.29889	0.265	0.21103	0.64617586229	0.64324	0.3514196407946845	0.35055	0.368701807779	0.38416	0.521216154099	0.41797	T	0.207525	0.56719	T	-0.367904	0.03701	T	-0.325873	0.41928	T	0.0167001427708858	0.00428	T	0.677732	0.28664	T	0.06325544	0.13300	0.08212194	0.18719	0.06325544	0.13300	0.08212194	0.18719	-3.74	0.19910	T	.	.	0.149	0.32969	B	.;.;.;.	.;.;.;.	2.674151	0.34869	19.75	0.87657972777412774	0.17386	0.44406	0.27311	N	AEFDGBCI	0.229100	0.35268	N	-0.684345782597569	0.16468	0.8392727	-0.677264178078325	0.17530	0.9325245	0.999999959042215	0.74766	0.650006	0.45971	0	0.624306	0.53593	0	0.606735	0.37207	0	0.542086	0.14980	0	.	.	4.91	3.04	0.34171	3.547000	0.53416	4.102000	0.41870	0.676000	0.76740	0.812000	0.29879	1.000000	0.68203	0.213000	0.22268	0.1791:0.0:0.8209:0.0	8.505	0.32344	814	0.42100	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007049	0.005051	0.008152	0.005848	0.000000	0.025862	0.006098	0.000000	0.02632	1054.33	33	chr1	202012720	.	G	A	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.49;DP=748;ExcessHet=0;FS=4.383;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=0.695;SOR=0.811	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:36,41:77:99:0|1:202012720_G_A:1068,0,1331:202012720	18	0	1	0
chr1	204444146	204444146	C	T	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.G2789A:p.C930Y,PIK3C2B:NM_002646:exon20:c.G2789A:p.C930Y,PIK3C2B:NM_001377335:exon21:c.G2705A:p.C902Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.0395205411741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.846e-07	1.368e-06	1.362e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.051	0.49390	T	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	0.997849	0.44246	D	2.33	0.66821	M	0.01	0.62459	T	-4.37	0.77061	D	0.851	0.84817	-0.6521	0.62622	T	0.334	0.70101	T	10	0.7551726	0.75928	D	0.039521	0.58854	D	0.336	0.65816	0.312	0.28612	0.731197027204	0.72880	0.44362017305618334	0.44280	1.35405607476	0.84143	0.879551887512	0.93900	D	0.617515	0.87964	D	0.289904	0.82147	D	0.17865	0.81918	D	0.956505954265594	0.64774	D	0.920508	0.71260	D	0.453303	0.64250	0.49103993	0.70556	0.453303	0.64251	0.49103993	0.70557	-10.862	0.78895	D	.	.	0.601	0.79505	P	.;.	.;.	4.755519	0.76829	26.6	0.9976745670120315	0.85583	0.90357	0.51468	D	ALL	0.660412	0.63099	D	0.458512160282776	0.64688	4.728999	0.511871425671665	0.68789	5.26863	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	2.703000	0.46778	7.616000	0.62106	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.967000	0.53440	0.144:0.856:0.0:0.0	14.830	0.69772	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3947	3415.12	35	chr1	204444146	.	C	T	3415.12	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-4.545;DP=2707;ExcessHet=20.8569;FS=226.245;InbreedingCoeff=-0.6776;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.58;ReadPosRankSum=0.629;SOR=12.531	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,22:136:83:0|1:204444146_C_T:83,0,3846:204444146	4	0	15	0
chr1	204444147	204444147	A	G	exonic	PIK3C2B	.	nonsynonymous SNV	PIK3C2B:NM_001377334:exon18:c.T2788C:p.C930R,PIK3C2B:NM_002646:exon20:c.T2788C:p.C930R,PIK3C2B:NM_001377335:exon21:c.T2704C:p.C902R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0699442069728	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.034	0.53788	D	0.999	0.77913	D	0.985	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.83	0.20963	L	0.14	0.60854	T	-5.22	0.83830	D	0.861	0.86191	-0.7225	0.59339	T	0.246	0.61530	T	10	0.6625425	0.70238	D	0.069944	0.70868	D	0.372	0.69102	0.335	0.32329	0.796189045978	0.79428	0.5671153260514122	0.56639	1.38482303822	0.84866	0.874912202358	0.93263	D	0.60522	0.87406	D	0.279203	0.81249	D	0.163279	0.81006	D	0.975287973880768	0.70867	D	0.739426	0.52772	T	0.74623775	0.80650	0.7226829	0.83623	0.74623775	0.80652	0.7226829	0.83624	-7.62	0.58450	D	.	.	0.819	0.87226	P	.;.	.;.	4.639661	0.73847	26.1	0.99796849897327999	0.88194	0.90532	0.51786	D	ALL	0.673803	0.63974	D	0.263763222116594	0.54323	3.598145	0.384514743775906	0.60611	4.250483	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.674467	0.66132	0	.	.	5.98	5.98	0.97147	3.831000	0.55477	11.132000	0.86827	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.961000	0.51904	0.9272:0.0:0.0728:0.0	10.472	0.43830	648	0.63242	Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain;Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain|Phosphoinositide 3-kinase, accessory (PIK) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1875.17	35	chr1	204444147	.	A	G	1875.17	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-4.464;DP=2529;ExcessHet=6.9875;FS=190.86;InbreedingCoeff=-0.3572;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=1.32;ReadPosRankSum=1.46;SOR=11.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:114,22:136:83:0|1:204444146_C_T:83,0,3846:204444146	9	0	10	0
chr1	206507765	206507765	G	A	exonic	RASSF5	.	nonsynonymous SNV	RASSF5:NM_182663:exon1:c.G163A:p.G55R,RASSF5:NM_182664:exon1:c.G163A:p.G55R	.	419	1093	10	0	0	10	0.00455373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.0709774793557	.	0.000798722	0.0062	0	0	0	.	0.0053	0	0.0070	0.0004657	72	154602	rs559841670	0.0005	0.0005	0.0004	0.0006	0.0068	0.0005	0.0005	0.0048	0.0041	4.076e-05	0.0003	0.0011	0	3.109e-05	0.0068	0.0003	0.0010	0.0039	0.0005	0.0005	0.0003	0.0007	0.0029	0.0004	0.0004	0.0018	0.0014	4.826e-05	0	0.0017	0.0009	0	0.0003	0.0205	0.0003	0.0009	0.0029	.	.	.	0.04	0.50809	D	0.007	0.20242	B	0.003	0.12133	B	0.031133	0.25211	N	0.247654	1	0.08975	N	0.805	0.20218	L	3.05	0.15028	T	.	.	.	0.126	0.14622	-1.0190	0.24041	T	0.029	0.12322	T	10	0.0072321594	0.00165	T	0.070977	0.71148	D	.	.	0.258	0.20002	0.344017737713	0.34012	0.4799395137607475	0.47913	.	.	0.880688548088	0.94053	D	0.061994	0.31798	T	-0.579632	0.00194	T	-0.603459	0.12523	T	0.0554501720190643	0.06433	T	0.786621	0.42528	T	0.068282165	0.14862	0.20474322	0.44611	0.068282165	0.14862	0.20474322	0.44610	-3.312	0.13893	T	.	.	0.142	0.31304	B	.;.;.	.;.;.	2.168501	0.27635	17.53	0.97309312689330918	0.33318	0.49772	0.28510	N	AEFDBHCI	0.038566	0.05478	N	-0.660024206835807	0.17169	0.8811781	-0.640150421164478	0.18466	0.9865569	0.999999967001659	0.74766	0.437478	0.07067	0	0.552344	0.17405	0	0.606814	0.37721	0	0.554799	0.18163	0	.	.	3.76	2.81	0.31971	1.698000	0.37413	0.000000	0.13247	0.368000	0.20244	0.978000	0.35038	0.184000	0.23444	0.059000	0.15899	0.0:0.197:0.803:0.0	10.591	0.44502	906	0.23090	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005882	0.000000	0.006000	0.027586	0.000000	0.000000	0.000000	0.004808	0.02632	245.33	40	chr1	206507765	.	G	A	245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.86;DP=516;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.81;ReadPosRankSum=2.11;SOR=0.582	GT:AD:DP:GQ:PL	0/1:15,10:25:99:259,0,339	18	0	1	0
chr1	212100360	212100360	A	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.A557G:p.D186G,DTL:NM_001286230:exon13:c.A1244G:p.D415G,DTL:NM_016448:exon14:c.A1370G:p.D457G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.0705558454721	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.851e-05	0.0028	0.0001	7.4e-05	0.0004	7.568e-05	7.088e-05	8.625e-05	8.04e-05	0.0002	0	7.808e-05	0	0	0.0004	0.0001	8.675e-05	2.365e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.106	0.39340	T	1.0	0.90584	D	0.998	0.88582	D	0.000003	0.62929	D	0.058592	0.999257	0.46462	D	2.25	0.63811	M	-0.7	0.72785	T	-1.67	0.40468	N	0.749	0.74826	-0.3539	0.73441	T	0.438	0.77695	T	10	0.75805414	0.76133	D	0.070556	0.71033	D	0.526	0.79947	0.319	0.29741	0.808314291208	0.80651	0.3264893862643791	0.32561	0.86120817891	0.68970	0.44428807497	0.31164	T	0.329649	0.69993	T	0.19523	0.73447	D	0.0426576	0.73102	D	0.955969452857971	0.64639	D	0.89741	0.64114	D	0.3560679	0.57536	0.23249285	0.48411	0.3560679	0.57536	0.23249285	0.48410	-2.972	0.09882	T	.	.	0.269	0.50334	B	.;.	.;.	4.309799	0.65871	24.9	0.99831915659102677	0.91370	0.96274	0.68342	D	AEFGBI	0.726655	0.67525	D	0.474501222025507	0.65606	4.843659	0.455932996682415	0.65097	4.781064	0.999162801006358	0.38622	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	4.24	0.49486	5.910000	0.69668	9.238000	0.79403	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8598:0.1402:0.0:0.0	12.458	0.55050	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	930.87	95	chr1	212100360	.	A	G	930.87	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.957;DP=2027;ExcessHet=4.0268;FS=98.304;InbreedingCoeff=-0.2734;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.44;SOR=10.33	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,16:109:99:0|1:212100360_A_G:185,0,3591:212100360	11	0	8	0
chr1	212100361	212100361	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C558G:p.D186E,DTL:NM_001286230:exon13:c.C1245G:p.D415E,DTL:NM_016448:exon14:c.C1371G:p.D457E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.0329555447533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.37e-05	0.0014	5.667e-05	3.064e-05	5.487e-05	3.491e-05	3.173e-05	4.337e-05	3.902e-05	3.026e-05	0	3.843e-05	0	0	0	5.487e-05	1.673e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.171	0.31936	T	1.0	0.90584	D	0.996	0.84481	D	0.000003	0.62929	D	0.058592	0.989147	0.40895	D	2.25	0.63811	M	-0.6	0.71662	T	-0.8	0.22294	N	0.349	0.39052	-0.3807	0.72629	T	0.393	0.74685	T	10	0.3230481	0.49647	T	0.032956	0.54641	D	0.311	0.63269	0.299	0.26522	0.740948349148	0.73862	0.17433452095652613	0.17352	0.336806597811	0.35678	0.457547277212	0.32974	T	0.149432	0.48844	T	0.025508	0.55121	T	-0.201136	0.54540	T	0.753782212734222	0.43497	D	0.759324	0.38363	T	0.3453272	0.56701	0.20157085	0.44143	0.3453272	0.56701	0.20157085	0.44142	-3.559	0.17267	T	.	.	0.298	0.52841	B	.;.	.;.	3.620151	0.51223	23.1	0.99649687588057234	0.77192	0.89840	0.50569	D	AEFGBI	0.335728	0.43407	N	0.202993589347586	0.51343	3.316385	0.188628048828177	0.49223	3.128123	0.997589750058845	0.35786	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	3.55	0.39770	1.268000	0.32665	1.684000	0.28029	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.8588:0.0:0.1412	11.901	0.51966	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	937.38	80	chr1	212100361	.	C	G	937.38	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-3.466;DP=1965;ExcessHet=4.0268;FS=98.435;InbreedingCoeff=-0.3233;MLEAC=9;MLEAF=0.25;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=1.49;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,16:109:99:0|1:212100360_A_G:185,0,3591:212100360	10	0	8	1
chr1	212100362	212100362	C	G	exonic	DTL	.	nonsynonymous SNV	DTL:NM_001286229:exon12:c.C559G:p.L187V,DTL:NM_001286230:exon13:c.C1246G:p.L416V,DTL:NM_016448:exon14:c.C1372G:p.L458V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0545165954567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.847e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.438	0.13595	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.25	0.63811	M	-0.81	0.73949	T	-0.71	0.20358	N	0.513	0.54409	-0.1746	0.78316	T	0.536	0.82849	D	10	0.37823913	0.53996	T	0.054517	0.65885	D	0.250	0.55888	0.198	0.11110	0.766922051636	0.76479	0.22416353566131936	0.22331	1.04972523653	0.76107	0.472474902868	0.35021	T	0.11718	0.43707	T	0.00178878	0.51901	T	-0.235207	0.51265	T	0.933079659938812	0.59956	D	0.891311	0.62583	D	0.38030902	0.59339	0.26082087	0.51851	0.38030902	0.59339	0.26082087	0.51850	-4.02	0.24102	T	.	.	0.169	0.37235	B	.;.	.;.	4.139380	0.62006	24.4	0.99826959884761401	0.90939	0.96985	0.72028	D	AEFGBI	0.698434	0.65611	D	0.646827706149991	0.76162	6.436104	0.648942237263915	0.78531	6.895201	0.9999999853233	0.74766	0.736574	0.97449	0	0.724815	0.89359	0	0.732669	0.93749	0	0.613276	0.41899	0	.	.	5.41	5.41	0.78313	5.006000	0.63731	5.980000	0.52153	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	19.553	0.95324	665	0.61472	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1842	881.54	71	chr1	212100362	.	C	G	881.54	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-4.876;DP=1669;ExcessHet=2.9153;FS=98.304;InbreedingCoeff=-0.2277;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=1.14;ReadPosRankSum=1.65;SOR=8.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,16:109:99:0|1:212100360_A_G:185,0,3591:212100360	12	0	7	0
chr1	220154029	220154029	G	C	exonic	RAB3GAP2	.	nonsynonymous SNV	RAB3GAP2:NM_012414:exon32:c.C3584G:p.T1195S	Martsolf syndrome, Autosomal recessive;Warburg micro syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.141	0.00874835817134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.849e-07	5.199e-05	1.363e-06	0	9.003e-07	0	0	.	.	0	0	0	0	0	0	9.003e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.191	0.21066	T	0.709	0.05544	T	0.918	0.50838	P	0.243	0.38752	B	0.000001	0.62929	D	0.097802	0.989506	0.40966	D	1.965	0.53209	M	1.55	0.29866	T	-1.19	0.30346	N	0.147	0.14905	-1.1200	0.02331	T	0.056	0.23715	T	10	0.2658563	0.44086	T	0.008748	0.23099	T	0.141	0.37795	0.358	0.36060	0.223474106383	0.21959	0.16981700195601018	0.16901	0.592570687533	0.54640	0.739543437958	0.72906	T	0.027942	0.20352	T	-0.137119	0.30348	T	-0.434738	0.29399	T	0.899769723415375	0.55214	D	0.762924	0.38892	T	0.1383725	0.32004	0.21677402	0.46317	0.1383725	0.32004	0.21677402	0.46316	-2.787	0.08064	T	0.07926114128440298	0.03886	0.096	0.15475	B	.	.	3.368266	0.46533	22.3	0.99285218365232031	0.58043	0.98279	0.81205	D	AEFBI	0.720452	0.67101	D	0.402651685043986	0.61569	4.359683	0.526830799331264	0.69803	5.412558	0.999690459879266	0.41870	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.73	5.73	0.89730	6.424000	0.73282	11.862000	0.98348	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.260	0.98443	533	0.73433	Rab3GAP regulatory subunit, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	441.37	57	chr1	220154029	.	G	C	441.37	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-2.586;DP=1759;ExcessHet=8.9063;FS=228.055;InbreedingCoeff=-0.3733;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=-0.074;SOR=12.31	GT:AD:DP:GQ:PL	0/1:54,20:74:13:13,0,857	8	0	11	0
chr1	222629720	222629720	A	G	exonic	MIA3	.	nonsynonymous SNV	MIA3:NM_001324062:exon4:c.A2500G:p.I834V,MIA3:NM_001324063:exon4:c.A2500G:p.I834V,MIA3:NM_198551:exon4:c.A2500G:p.I834V,MIA3:NM_001324064:exon5:c.A2008G:p.I670V	.	419	1088	15	0	0	15	0.00684619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	.	0.0053	0.00339457	0.0063	0.0016	0.0047	0	0.0067	0.0088	0.0101	0.0032	0.0061383	949	154602	rs79054337	0.0075	0.0075	0.0076	0.0074	0.0086	0.0074	0.0073	0.0084	0.0084	0.0013	0.0045	0.0007	0	0.0078	0.0036	0.0086	0.0072	0.0036	0.0055	0.0055	0.0055	0.0055	0.0084	0.0052	0.0051	0.0079	0.0076	0.0015	0.0044	0.0048	0	0	0.0079	0.0068	0.0084	0.0076	0.0048	0.071	0.35165	T	0.636	0.07059	T	0.017	0.17573	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	.	.	.	3.66	0.04228	T	0.14	0.05405	N	0.06	0.03175	-0.9047	0.47481	T	0.007	0.02360	T	9	0.0034705698	0.00061	T	.	.	.	0.010	0.01040	.	.	0.126345400529	0.12197	0.02975397248211301	0.02924	0.0474528487497	0.05180	0.231261909008	0.02063	T	2.94E-4	0.00073	T	-0.674629	0.00052	T	-0.735578	0.04079	T	0.00121981089687263	0.00012	T	0.264874	0.04312	T	0.018474111	0.00368	0.0287193	0.01134	0.018474111	0.00368	0.0287193	0.01134	-2.737	0.07619	T	.	.	0.071	0.03887	B	.	.	-1.077967	0.00667	0.019	0.19956957880846973	0.00697	0.02504	0.06993	N	AEFBCI	0.020073	0.00756	N	-1.18086869438657	0.05290	0.2407763	-1.24845453336349	0.05154	0.2448985	0.988158556269713	0.31431	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.23	-1.89	0.07271	-0.116000	0.10697	-0.546000	0.08555	-0.056000	0.16711	0.000000	0.06391	0.000000	0.08366	0.012000	0.09680	0.3763:0.3183:0.3054:0.0	4.205	0.09939	910	0.22284	.	.	.	.	.	rs79054337	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.005051	0.002717	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	2874.83	39	chr1	222629720	.	A	G	2874.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.789;DP=1254;ExcessHet=0.119;FS=0.457;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.36;ReadPosRankSum=0.765;SOR=0.649	GT:AD:DP:GQ:PL	0/1:61,66:127:99:1599,0,1537	17	0	2	0
chr1	225853676	225853676	G	A	exonic	TMEM63A	.	nonsynonymous SNV	TMEM63A:NM_014698:exon19:c.C1750T:p.R584C	.	419	1094	9	0	0	9	0.0040965	.	.	.	3192478	TMEM63A-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.728	0.0492004327872	0.0014	0.000798722	0.0016	0.0024	0.0072	0	0.0019	0.0018	0	0.0006	0.0008409	130	154602	rs75188792	0.0007	0.0007	0.0006	0.0008	0.0068	0.0007	0.0007	0.0051	0.0045	0.0015	0.0020	3.935e-05	5.208e-05	1.953e-05	0.0068	0.0007	0.0015	0.0004	0.0012	0.0012	0.0011	0.0012	0.0019	0.0010	0.0010	0.0014	0.0012	0.0012	0.0186	0.0019	0	0	0.0002	0.0102	0.0008	0.0076	0.0012	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.92	0.84325	M	1.41	0.33412	T	-7.32	0.94537	D	0.967	0.97750	-0.5051	0.68464	T	0.253	0.62337	T	10	0.07900062	0.12657	T	0.049	0.63711	D	0.728	0.90457	.	.	0.570020700114	0.56667	0.7869320622264573	0.78645	0.885137563501	0.69946	0.572756648064	0.49067	T	0.147636	0.48582	T	-0.0194096	0.48938	T	0.192867	0.82732	D	0.0798766800261202	0.09970	T	0.969303	0.88939	D	0.8484633	0.87222	0.759123	0.85767	0.8484633	0.87224	0.759123	0.85768	-9.409	0.70291	D	0.7017525084487362	0.78081	0.224	0.45605	B	.	.	5.814432	0.93670	33	0.99947735947656613	0.99923	0.99812	0.99628	D	AEFDBI	0.923388	0.89980	D	0.96605212451979	0.94601	12.88682	0.920471841969732	0.96404	14.65616	0.999999999999858	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.643519	0.47002	0	0.636168	0.56350	0	.	.	5.45	5.45	0.79688	9.858000	0.98409	11.332000	0.92542	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.978000	0.57271	0.0:0.0:1.0:0.0	19.288	0.94071	724	0.55085	Calcium-dependent channel, 7TM region, putative phosphate	.	.	.	.	.	Likely benign	0	0	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	0.012158	0.046392	0.017663	0.005917	0.000000	0.017241	0.003067	0.007634	0.02632	1025.33	34	chr1	225853676	.	G	A	1025.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.57;DP=757;ExcessHet=0;FS=3.759;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.25;ReadPosRankSum=0.955;SOR=0.568	GT:AD:DP:GQ:PL	0/1:56,44:100:99:1039,0,1295	18	0	1	0
chr1	226736432	226736432	C	T	exonic	ITPKB	.	nonsynonymous SNV	ITPKB:NM_002221:exon2:c.G1027A:p.V343M	.	427	1092	3	0	0	3	0.00137174	.	.	.	2267764	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.007	0.00890764341178	0.0002	.	0.0003	0.0001	0.0006	0	0	0.0004	0	0.0003	0.0002652	41	154602	rs199795545	0.0003	0.0003	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	0.0001	0.0004	3.826e-05	0	0	0.0029	0.0003	0.0004	0.0003	0.0002	0.0002	0.0002	0.0002	0.0004	0.0002	0.0001	0.0003	0.0002	2.412e-05	0	0.0001	0	0	0	0.0032	0.0004	0.0005	0	0.21	0.19639	T	0.06	0.45744	T	0.015	0.17086	B	0.007	0.12992	B	0.104812	0.02582	N	1.936190	1	0.08975	N	0.69	0.16971	N	1.76	0.25996	T	0.04	0.09460	N	0.067	0.03956	-1.0251	0.22050	T	0.036	0.15726	T	10	0.02584678	0.00767	T	0.008908	0.23487	T	0.007	0.00512	.	.	0.202312658747	0.19855	0.11423920005933663	0.11351	0.198248602837	0.22201	0.398197293282	0.24818	T	0.050054	0.28486	T	-0.576773	0.00202	T	-0.748198	0.03557	T	0.0149355959147215	0.00318	T	0.675032	0.28342	T	0.036156416	0.04393	0.04187583	0.04860	0.036156416	0.04393	0.04187583	0.04860	-4.531	0.31292	T	.	.	0.146	0.46144	B	.;.;.	.;.;.	0.507183	0.08762	5.537	0.94287004509521166	0.24586	0.05797	0.11733	N	AEFDBHCI	0.057953	0.10837	N	-1.0949260225768	0.06736	0.310946	-1.11070511248466	0.07495	0.3647805	0.999948102287712	0.47345	0.685219	0.55550	0	0.672317	0.65289	0	0.674405	0.61402	0	0.636168	0.56350	0	.	.	4.43	-1.09	0.09397	-0.577000	0.05940	-0.325000	0.09934	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.599000	0.31363	0.0:0.3968:0.4311:0.1721	6.534	0.21541	845	0.36510	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003525	0.000000	0.005435	0.000000	0.050000	0.000000	0.006098	0.000000	0.02632	1589.33	78	chr1	226736432	.	C	T	1589.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.567;DP=1246;ExcessHet=0;FS=1.506;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.94;ReadPosRankSum=0.905;SOR=0.886	GT:AD:DP:GQ:PL	0/1:52,62:114:99:1603,0,1323	18	0	1	0
chr1	228487495	228487495	C	T	exonic	RNF187	.	nonsynonymous SNV	RNF187:NM_001010858:exon1:c.C7T:p.L3F	.	431	1087	3	1	0	5	0.00229463	.	.	.	2345098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs1006476921	0.0003	0.0002	0.0003	0.0003	0.0064	0.0002	0.0002	0.0039	0.0032	0.0003	0.0006	0.0003	0	0	0.0064	0.0002	0.0001	0.0016	0.0002	0.0002	0.0002	0.0002	0.0008	0.0002	0.0001	0.0003	0.0002	4.839e-05	0	0.0004	0.0003	0	9.992e-05	0.0103	0.0002	0	0.0008	.	.	.	0.0	0.92824	D	0.948	0.53620	P	0.478	0.47030	P	.	.	.	.	0.998461	0.22137	N	1.43	0.35840	L	.	.	.	.	.	.	0.08	0.05542	.	.	.	.	.	.	.	0.16893631	0.31473	T	.	.	.	.	.	.	.	0.651660614473	0.64876	0.1813352742045692	0.18052	.	.	0.817205429077	0.84600	D	0.036184	0.24008	T	-0.036724	0.46434	T	-0.290528	0.45718	T	.	.	.	.	.	.	0.06026763	0.12347	0.15776184	0.36874	0.06026763	0.12346	0.15776184	0.36873	-5.347	0.40406	T	.	.	0.119	0.24532	B	.;.	.;.	2.787682	0.36639	20.3	0.9677352149948798	0.31045	0.03330	0.08404	N	ALL	.	.	.	.	.	.	.	.	.	0.999999301839419	0.74766	0.142881	0.03202	1	0.090139	0.02499	0	0.158946	0.03948	1	0.088244	0.02422	0	0.12303	0.24969	3.46	2.21	0.27042	0.326000	0.19391	0.488000	0.18872	0.387000	0.20461	0.002000	0.15269	0.000000	0.08366	0.953000	0.50222	0.0:0.7429:0.2571:0.0	11.220	0.48078	288	0.88579	.;.	.	.	.	.	.	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	0.004717	0.008197	0.027778	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	576.33	35	chr1	228487495	.	C	T	576.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.272;DP=683;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.87;ReadPosRankSum=-0.08;SOR=0.704	GT:AD:DP:GQ:PL	0/1:29,24:53:99:590,0,769	18	0	1	0
chr1	229614464	229614464	C	T	exonic	TAF5L	.	nonsynonymous SNV	TAF5L:NM_001025247:exon2:c.G19A:p.E7K,TAF5L:NM_014409:exon2:c.G19A:p.E7K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.346	0.0743032420042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.736e-06	2.736e-06	2.722e-06	2.75e-06	3.597e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.027	0.92824	D	0.999	0.90584	D	0.98	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.28	0.64929	M	0.04	0.62051	T	-0.86	0.66549	N	0.936	0.96871	-0.2806	0.75524	T	0.438	0.77695	T	9	0.7513443	0.75660	D	0.074303	0.72007	D	0.346	0.66769	0.402	0.43245	0.710910423371	0.70838	0.664216391094955	0.66358	0.642444202112	0.57808	0.797382831573	0.81565	T	0.08921	0.44873	T	0.329859	0.85155	D	0.236043	0.84961	D	0.973430991172791	0.70095	D	0.845915	0.56644	T	0.6665391	0.76248	0.5883987	0.76123	0.6665391	0.76249	0.5883987	0.76124	-7.179	0.55330	T	.	.	0.841	0.89526	P	.;.;.;.	.;.;.;.	5.310230	0.89146	29.9	0.99934558451644306	0.99535	0.98795	0.86952	D	AEFBI	0.852769	0.76968	D	0.793528142876029	0.85699	8.654641	0.795451576270333	0.89474	9.990287	0.999999999999969	0.74766	0.722319	0.85440	0	0.724815	0.89359	0	0.643519	0.47002	0	0.735409	0.98432	0	.	.	5.77	5.77	0.91077	7.552000	0.81138	7.629000	0.62648	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	20.002	0.97411	519	0.74455	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2339.33	45	chr1	229614464	.	C	T	2339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.85;DP=877;ExcessHet=0;FS=3.482;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.52;ReadPosRankSum=1.22;SOR=0.875	GT:AD:DP:GQ:PL	0/1:84,89:173:99:2353,0,2101	18	0	1	0
chr1	230990117	230990117	G	A	exonic	ARV1	.	nonsynonymous SNV	ARV1:NM_001346992:exon3:c.G302A:p.G101E,ARV1:NM_022786:exon3:c.G302A:p.G101E	Epileptic encephalopathy, early infantile, 38, Autosomal recessive	436	1043	41	2	0	45	0.0211168	.	.	.	707195	not_provided|ARV1-related_disorder	MedGen:C3661900|MedGen:CN235539	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.256	.	0.0046	0.00519169	0.0056	0.0011	0.0016	0	0.0005	0.0044	0.0066	0.0216	0.0054204	838	154602	rs35764859	0.0068	0.0068	0.0064	0.0072	0.0203	0.0067	0.0067	0.0195	0.0191	0.0012	0.0020	0.0050	7.62e-05	0.0004	0.0126	0.0066	0.0089	0.0203	0.0041	0.0041	0.0043	0.0039	0.0195	0.0038	0.0037	0.0163	0.0151	0.0010	0	0.0033	0.0032	0	0.0003	0.0204	0.0061	0.0038	0.0195	0.377	0.17761	T	0.817	0.39492	T	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.055422	1	0.81001	D	1.75	0.45442	L	1.04	0.40218	T	-2.05	0.53577	N	0.84	0.83576	-1.0017	0.29430	T	0.138	0.45583	T	10	0.012885034	0.00275	T	.	.	.	0.256	0.56694	.	.	0.902235681755	0.90125	0.7012005147172009	0.70061	0.783812259885	0.65410	0.61260843277	0.54685	T	0.132561	0.51226	T	-0.30417	0.08272	T	-0.193439	0.55267	T	0.0165582415434583	0.00418	T	0.930707	0.74322	D	0.6035068	0.72879	0.68881744	0.81694	0.629531	0.74274	0.68881744	0.81694	-9.63	0.71665	D	0.4046614240751881	0.49594	0.487	0.73409	A	.;.	.;.	5.299921	0.88975	29.8	0.99815137079353544	0.89885	0.98673	0.85416	D	AEFBI	0.927170	0.90941	D	0.586677778091351	0.72343	5.790699	0.659699080626773	0.79335	7.060692	0.999999999999997	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.683762	0.67416	0	.	.	6.17	6.17	0.99707	7.584000	0.81862	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.879	0.99870	801	0.44448	.;.	.	.	.	.	.	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	0.017120	0.005051	0.010870	0.032164	0.000000	0.017241	0.021341	0.003788	0.02632	1231.33	34	chr1	230990117	.	G	A	1231.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.254;DP=708;ExcessHet=0;FS=9.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.38;ReadPosRankSum=0.367;SOR=0.187	GT:AD:DP:GQ:PL	0/1:44,48:92:99:1245,0,1239	18	0	1	0
chr1	243330649	243330649	T	C	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.T884C:p.M295T,SDCCAG8:NM_006642:exon10:c.T1178C:p.M393T,SDCCAG8:NM_001350247:exon11:c.T275C:p.M92T,SDCCAG8:NM_001350248:exon11:c.T1274C:p.M425T,SDCCAG8:NM_001350246:exon12:c.T275C:p.M92T,SDCCAG8:NM_001350251:exon13:c.T275C:p.M92T	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0097323393981	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.848e-07	6.841e-07	1.363e-06	0	9.004e-07	0	0	.	.	0	0	0	0	0	0	9.004e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.25768	T	0.033	0.53072	D	0.288	0.32258	B	0.142	0.33681	B	0.014502	0.28512	N	0.453510	0.991261	0.24058	N	2.35	0.67516	M	0.96	0.42888	T	-1.36	0.39119	N	0.326	0.36674	-1.0039	0.28785	T	0.097	0.36393	T	10	0.17887664	0.32995	T	0.009732	0.25404	T	0.074	0.21613	0.189	0.09907	0.483448007585	0.47975	0.09831529846527605	0.09762	0.077331380461	0.08693	0.505008280277	0.39526	T	0.01979	0.21521	T	-0.0887363	0.38287	T	-0.36524	0.37444	T	0.598834455013275	0.36354	D	0.759724	0.38410	T	0.19019835	0.40594	0.10757766	0.25900	0.19019835	0.40594	0.10757766	0.25899	-6.297	0.48698	T	0.14363118300184172	0.16344	0.331	0.55320	B	.;.	.;.	2.324314	0.29769	18.23	0.95285732624943364	0.26586	0.92014	0.54755	D	AEFBI	0.442092	0.49996	N	-0.0401053196164673	0.40046	2.371564	0.107935306068944	0.44954	2.767287	0.989291218126179	0.31780	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	5.78	0.91418	4.591000	0.60729	3.506000	0.38809	0.665000	0.62972	0.999000	0.42656	1.000000	0.68203	0.888000	0.42677	0.0:0.0:0.0:1.0	12.493	0.55251	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	385.43	34	chr1	243330649	.	T	C	385.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-4.858;DP=1567;ExcessHet=0.7564;FS=118.041;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.5;SOR=8.497	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,28:204:99:0|1:243330649_T_C:121,0,6104:243330649	15	0	4	0
chr1	243330650	243330650	G	A	exonic	SDCCAG8	.	nonsynonymous SNV	SDCCAG8:NM_001350249:exon10:c.G885A:p.M295I,SDCCAG8:NM_006642:exon10:c.G1179A:p.M393I,SDCCAG8:NM_001350247:exon11:c.G276A:p.M92I,SDCCAG8:NM_001350248:exon11:c.G1275A:p.M425I,SDCCAG8:NM_001350246:exon12:c.G276A:p.M92I,SDCCAG8:NM_001350251:exon13:c.G276A:p.M92I	Bardet-Biedl syndrome 16, Autosomal recessive;Senior-Loken syndrome 7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00632597119373	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01950	T	0.234	0.24840	T	0.0	0.02946	B	0.002	0.06944	B	0.014502	0.28512	N	0.453510	0.998133	0.22332	N	1.655	0.42436	L	0.94	0.43672	T	-0.36	0.13805	N	0.134	0.13055	-1.0378	0.17985	T	0.059	0.24871	T	10	0.06551871	0.08850	T	0.006326	0.16610	T	0.032	0.07718	0.2	0.11384	0.277730125212	0.27379	0.06689497572896488	0.06627	0.0422791242989	0.04555	0.43775510788	0.30270	T	0.015516	0.13294	T	-0.198068	0.21084	T	-0.522287	0.20064	T	0.111812710762024	0.13609	T	0.748825	0.36981	T	0.06465344	0.13740	0.049524207	0.07586	0.06465344	0.13740	0.049524207	0.07585	-4.367	0.29106	T	0.08085815892315676	0.04119	0.334	0.55487	B	.;.	.;.	1.361264	0.17704	13.32	0.69353412739573272	0.08945	0.80020	0.39772	D	AEFBI	0.121707	0.23650	N	-0.389817834839874	0.25830	1.405158	-0.219855073360214	0.30825	1.738947	0.037651775745868	0.14308	0.638212	0.43195	0	0.653731	0.59785	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	5.78	3.84	0.43422	1.754000	0.37998	4.467000	0.43481	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.887000	0.42601	0.093:0.0:0.7284:0.1787	6.558	0.21666	590	0.68897	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	107.33	34	chr1	243330650	.	G	A	107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.186;DP=1014;ExcessHet=0;FS=102.242;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=3.04;SOR=6.735	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:176,28:204:99:0|1:243330649_T_C:121,0,6104:243330649	18	0	1	0
chr1	246767202	246767202	G	C	exonic	SCCPDH	.	nonsynonymous SNV	SCCPDH:NM_016002:exon12:c.G1192C:p.V398L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.560	0.0607066122749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.052981	1	0.81001	D	3.025	0.86340	M	0.6	0.53731	T	-2.56	0.55339	D	0.813	0.80866	0.008	0.82423	D	0.430	0.77238	T	10	0.969491	0.96509	D	0.060707	0.68090	D	0.560	0.81946	0.875	0.96581	0.849804418415	0.84836	0.9023042328331593	0.90202	0.628220077563	0.56899	0.435453057289	0.29955	T	0.312982	0.68476	T	0.277	0.81094	D	0.16069	0.80851	D	0.995431065559387	0.87417	D	0.939806	0.77272	D	0.5842948	0.71842	0.36693108	0.62013	0.5842948	0.71843	0.36693108	0.62012	-8.706	0.65785	D	.	.	0.813	0.77883	P	.	.	5.176468	0.86775	29.0	0.9980880289366385	0.89264	0.99645	0.98295	D	AEFBI	0.933965	0.92666	D	0.903023816211085	0.91906	11.12833	0.831453057332703	0.91888	11.12129	0.999984630838445	0.51787	0.719381	0.83141	0	0.724815	0.89359	0	0.709663	0.75317	0	0.733575	0.97253	0	.	.	5.91	5.0	0.66209	9.015000	0.93160	11.860000	0.98299	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0673:0.0:0.9327:0.0	15.183	0.72656	776	0.48302	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	46.86	35	chr1	246767202	.	G	C	46.86	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.236;DP=1020;ExcessHet=0.119;FS=378.294;InbreedingCoeff=-0.0568;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.427;SOR=8.688	GT:AD:DP:GQ:PL	0/1:43,18:61:45:45,0,770	17	0	2	0
chr1	247424041	247424041	G	A	exonic	NLRP3	.	nonsynonymous SNV	NLRP3:NM_001127461:exon4:c.G592A:p.V198M,NLRP3:NM_001127462:exon4:c.G592A:p.V198M,NLRP3:NM_001243133:exon4:c.G592A:p.V198M,NLRP3:NM_004895:exon4:c.G598A:p.V200M,NLRP3:NM_183395:exon4:c.G592A:p.V198M,NLRP3:NM_001079821:exon5:c.G592A:p.V198M	CINCA syndrome, Autosomal dominant;Familial cold-induced inflammatory syndrome 1, Autosomal dominant;Muckle-Wells syndrome, Autosomal dominant	0	1500	22	0	0	22	0.00727995	.	.	.	19410	Familial_cold_autoinflammatory_syndrome|Chronic_infantile_neurological,_cutaneous_and_articular_syndrome|Familial_cold_autoinflammatory_syndrome_1|Familial_amyloid_nephropathy_with_urticaria_AND_deafness|not_specified|not_provided|Kidney_disorder|NLRP3-related_disorder|Hearing_loss,_autosomal_dominant_34,_with_or_without_inflammation|Keratitis_fugax_hereditaria|Cryopyrin_associated_periodic_syndrome|Autoinflammatory_syndrome	MONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100,Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115,Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100,Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900,Orphanet:575|MedGen:CN169374|MedGen:C3661900|Human_Phenotype_Ontology:HP:0000112,MONDO:MONDO:0005240,MedGen:C0022658|.|MONDO:MONDO:0033261,MedGen:C4521680,OMIM:617772|MONDO:MONDO:0007849,MedGen:C1835697,OMIM:148200,Orphanet:647815|MONDO:MONDO:0016168,MedGen:C2316212,Orphanet:208650|MONDO:MONDO:0019751,MedGen:C3890737,Orphanet:93665	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.222	.	0.0068	0.00399361	0.0083	0.0013	0.0038	0.0001	0.0253	0.0099	0.0156	0.0060	0.0078912	1220	154602	rs121908147	0.0085	0.0085	0.0086	0.0085	0.0087	0.0084	0.0083	0.0085	0.0085	0.0011	0.0042	0.0115	2.519e-05	0.0238	0.0052	0.0087	0.0078	0.0063	0.0073	0.0073	0.0066	0.0079	0.0087	0.0069	0.0068	0.0081	0.0079	0.0013	0	0.0066	0.0130	0.0002	0.0255	0.0034	0.0087	0.0080	0.0054	0.155	0.24183	T	0.226	0.25748	T	0.069	0.23796	B	0.016	0.17743	B	0.234251	0.03538	N	1.537910	2.97861e-11	0.08975	A	.	.	.	-2.33	0.87910	D	-0.22	0.12283	N	0.07	0.04547	-0.7300	0.58964	T	0.212	0.57281	T	9	0.03694403	0.02021	T	.	.	.	0.222	0.51872	.	.	0.513846082701	0.51024	0.22615389081437023	0.22530	0.460099396149	0.45567	0.299927890301	0.10390	T	0.384477	0.74610	T	-0.437204	0.01343	T	-0.392971	0.34203	T	0.00574209630635007	0.00063	T	0.627137	0.25952	T	0.039222877	0.05375	0.061986197	0.12055	0.029809969	0.02537	0.05537048	0.09700	-4.569	0.32045	T	.	.	0.074	0.05491	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	-0.233222	0.02926	0.426	0.72672109334390289	0.10055	0.05110	0.10913	N	AEFDBI	0.073820	0.14778	N	-1.70017292574289	0.00841	0.03637804	-1.75656881570094	0.00909	0.04064689	0.999945305624792	0.47345	0.554377	0.28877	0	0.588066	0.40923	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.27	-7.37	0.01266	-0.254000	0.08801	.	.	-0.633000	0.04490	0.000000	0.06391	0.000000	0.08366	0.315000	0.24854	0.7268:0.0:0.1551:0.1181	9.296	0.36974	889	0.27310	.;NACHT-associated domain|NACHT-associated domain;NACHT-associated domain|NACHT-associated domain;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.000000	0.002717	0.000000	0.000000	0.008621	0.003049	0.022727	0.02632	7870.33	42	chr1	247424041	.	G	A	7870.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.59;DP=1297;ExcessHet=0;FS=2.429;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.57;ReadPosRankSum=1.86;SOR=0.607	GT:AD:DP:GQ:PL	0/1:312,314:626:99:7884,0,7560	18	0	1	0
chr1	248273644	248273644	C	T	exonic	OR2T33	.	nonsynonymous SNV	OR2T33:NM_001004695:exon1:c.G171A:p.M57I	.	452	1051	19	0	0	19	0.00895804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	.	0.0022	0.00459265	0.0051	0.0006	0.0013	0.0001	0.0027	0.0037	0.0044	0.0199	0.0004463	69	154602	rs146191422	0.0044	0.0044	0.0039	0.0049	0.0188	0.0043	0.0043	0.0180	0.0177	0.0006	0.0020	0.0010	0.0001	0.0028	0.0058	0.0038	0.0041	0.0188	0.0034	0.0034	0.0030	0.0037	0.0205	0.0031	0.0030	0.0173	0.0160	0.0004	0	0.0024	0.0009	0.0002	0.0035	0.0068	0.0046	0.0014	0.0205	0.001	0.78490	D	0.004	0.74150	D	0.97	0.56973	D	0.83	0.59611	P	0.000672	0.42516	U	0.000000	0.587033	0.32423	D	3.175	0.88760	M	2.99	0.09262	T	-3.3	0.65858	D	0.348	0.38950	-0.7002	0.60429	T	0.080	0.31705	T	10	0.0103830695	0.00231	T	.	.	.	0.168	0.42943	0.709	0.84509	0.60215957748	0.59898	0.32062858547817424	0.31975	1.61704118972	0.89014	0.216252028942	0.01104	T	0.012069	0.10668	T	-0.437176	0.01343	T	-0.385813	0.35043	T	0.0477881684187641	0.05106	T	0.873813	0.58316	D	0.8095102	0.84521	0.7608464	0.85870	0.8095102	0.84523	0.7608464	0.85871	-10.149	0.74799	D	.	.	0.731	0.74227	P	.;.	.;.	3.287508	0.45070	22.1	0.99636210278872583	0.76387	0.77667	0.38214	D	AEFI	0.231881	0.35503	N	0.521612514642491	0.68369	5.207717	0.327675825219252	0.57172	3.882075	4.13555868377744E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.7	1.74	0.23636	3.325000	0.51742	0.669000	0.20577	0.561000	0.28422	1.000000	0.71638	0.956000	0.29165	0.937000	0.47636	0.0:0.8852:0.0:0.1148	9.667	0.39154	982	0.03397	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	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	0.007403	0.000000	0.001374	0.000000	0.000000	0.008772	0.014286	0.027132	0.02632	2655.33	41	chr1	248273644	.	C	T	2655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.808;DP=1414;ExcessHet=0;FS=1.109;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.28;MQRankSum=2.22;QD=13.62;ReadPosRankSum=-0.883;SOR=0.75	GT:AD:DP:GQ:PL	0/1:89,106:195:99:2669,0,2172	18	0	1	0
chr2	17718077	17718077	C	G	exonic	SMC6	.	nonsynonymous SNV	SMC6:NM_024624:exon11:c.G1092C:p.E364D,SMC6:NM_001142286:exon12:c.G1092C:p.E364D	.	.	.	.	.	.	.	.	1.0000	0.944	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.201	0.0212465142959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.904e-07	1.847e-05	1.373e-06	0	9.041e-07	0	0	.	.	0	0	0	0	0	0	9.041e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.068	0.49942	T	0.94	0.77913	P	0.796	0.75793	P	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.305	0.65957	M	1.52	0.30669	T	-2.49	0.54217	N	0.456	0.49328	-0.9945	0.31432	T	0.143	0.46459	T	9	0.5550543	0.64470	D	0.021247	0.43989	T	0.201	0.48592	0.72	0.85496	0.439445477881	0.43565	0.39608735440883663	0.39523	0.785247102179	0.65485	0.576108396053	0.49537	T	0.117911	0.43834	T	-0.126733	0.32025	T	-0.419819	0.31095	T	0.95919793844223	0.65469	D	0.882812	0.61002	D	0.4057743	0.61131	0.30099767	0.56132	0.4057743	0.61131	0.30099767	0.56132	-4.967	0.36479	T	.	.	0.496	0.64380	A	.;.;.;.;.	.;.;.;.;.	5.135708	0.85965	28.8	0.99795594030637791	0.88106	0.94334	0.60835	D	AEFBHCI	0.722747	0.67258	D	0.443120586177463	0.63814	4.622516	0.423846892171514	0.63056	4.531784	0.999999999395155	0.74766	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.38	3.59	0.40253	4.629000	0.60988	4.754000	0.44676	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.0:0.8588:0.0:0.1412	11.912	0.52030	533	0.73433	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	118.54	26	chr2	17718077	.	C	G	118.54	.	AC=2;AF=0.1;AN=20;BaseQRankSum=0.054;DP=442;ExcessHet=0.2119;FS=56.97;InbreedingCoeff=0.1338;MLEAC=2;MLEAF=0.1;MQ=60;MQRankSum=0;QD=2.2;ReadPosRankSum=1.3;SOR=5.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,12:27:99:0|1:17718076_C_G:122,0,328:17718076	8	0	2	9
chr2	23864893	23864893	T	C	exonic	ATAD2B	.	nonsynonymous SNV	ATAD2B:NM_001242338:exon11:c.A1220G:p.H407R,ATAD2B:NM_017552:exon11:c.A1220G:p.H407R,ATAD2B:NM_001354107:exon12:c.A1262G:p.H421R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.0116478170939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.077e-06	4.105e-06	4.129e-06	0	2.717e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.717e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.448	0.09048	T	0.527	0.10209	T	.	.	.	.	.	.	.	.	.	.	0.955574	0.37932	D	.	.	.	-3.53	0.94764	D	-1.58	0.38151	N	0.19	0.20793	-0.8923	0.48731	T	0.148	0.47344	T	9	0.17789313	0.32846	T	0.011648	0.29486	T	0.219	0.51417	0.331	0.31681	0.672754582956	0.66998	0.6648068104265349	0.66417	0.60285670828	0.55282	0.627035319805	0.56724	T	.	.	.	0.0664316	0.60411	T	-0.142352	0.59914	T	0.361597471305519	0.27471	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.11845	B	.	.	3.381871	0.46779	22.4	0.96857722296242954	0.31369	0.92978	0.57018	D	AEFBI	0.378817	0.46207	N	0.214845505970457	0.51920	3.369515	0.360670962237465	0.59152	4.090821	0.916302595852516	0.26509	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	4.206000	0.58271	6.222000	0.55136	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.532	0.84210	788	0.46569	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1906.46	28	chr2	23864893	.	T	C	1906.46	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.108;DP=1231;ExcessHet=31.086;FS=215.109;InbreedingCoeff=-0.7907;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.27;SOR=11.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:33,19:52:99:.:.:119,0,329:.	2	0	17	0
chr2	32115733	32115735	CTT	-	exonic	SPAST	.	nonframeshift deletion	SPAST:NM_001363875:exon5:c.803_805del:p.S269del,SPAST:NM_001377959:exon5:c.806_808del:p.S270del,SPAST:NM_199436:exon5:c.806_808del:p.S270del,SPAST:NM_001363823:exon6:c.899_901del:p.S301del,SPAST:NM_014946:exon6:c.902_904del:p.S302del	Spastic paraplegia 4, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330580691	1.371e-06	1.368e-06	1.365e-06	1.378e-06	2.993e-05	2.3e-07	9e-08	.	.	2.993e-05	0	0	0	0	0	0	1.659e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1101.29	33	chr2	32115732	.	CCTT	C	1101.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.38;DP=671;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.48;ReadPosRankSum=1.42;SOR=0.76	GT:AD:DP:GQ:PL	0/1:34,29:63:99:1115,0,1340	18	0	1	0
chr2	32415923	32415923	A	G	exonic	BIRC6	.	nonsynonymous SNV	BIRC6:NM_001378125:exon10:c.A2548G:p.I850V,BIRC6:NM_016252:exon10:c.A2632G:p.I878V	.	.	.	.	.	.	.	.	.	.	.	2677263	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.060	0.0201834544714	.	.	4.121e-05	0	0	0.0002	0	4.497e-05	0	0	3.23e-05	5	154602	rs780140402	3.352e-05	3.352e-05	2.587e-05	4.126e-05	0.0002	2.566e-05	2.312e-05	4.907e-05	3.165e-05	0	2.236e-05	0.0003	0.0001	0	0.0002	2.428e-05	8.282e-05	1.159e-05	3.942e-05	3.94e-05	1.285e-05	6.725e-05	0.0002	1.715e-05	1.129e-05	2.846e-05	1.858e-05	0	0	0	0	0.0002	0	0	7.35e-05	0	0	0.635	0.05076	T	0.344	0.17804	T	.	.	.	.	.	.	0.365327	0.04328	N	1.374590	1	0.08975	N	.	.	.	0.03	0.62183	T	0.05	0.06369	N	0.031	0.00770	-1.0719	0.09001	T	0.105	0.38538	T	10	0.011182696	0.00246	T	0.020183	0.42720	T	0.060	0.17295	.	.	0.19168177325	0.18762	0.1578987500114644	0.15710	0.14333016732	0.16180	0.221379324794	0.01391	T	.	.	.	-0.507552	0.00518	T	-0.660863	0.08208	T	0.0261414553970098	0.01425	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00341	B	.	.	0.621284	0.09899	6.657	0.43283184295674321	0.03248	0.07006	0.13033	N	AEFBI	0.029528	0.02802	N	-1.21758748194383	0.04744	0.214791	-1.12645833803769	0.07197	0.3492166	0.0709368198422467	0.15548	0.706548	0.73137	0	0.653731	0.59785	0	0.575934	0.27490	0	0.714379	0.83352	0	.	.	5.76	-0.29	0.12211	0.435000	0.21228	0.111000	0.14782	-0.576000	0.04747	0.008000	0.17931	0.002000	0.18203	0.987000	0.62547	0.3298:0.1152:0.4363:0.1186	2.1	0.03454	297	0.88113	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.05263	3242.83	34	chr2	32415923	.	A	G	3242.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.997;DP=842;ExcessHet=0.119;FS=2.787;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=-0.165;SOR=0.524	GT:AD:DP:GQ:PL	0/1:58,61:119:99:1580,0,1417	17	0	2	0
chr2	33293242	33293242	C	G	exonic	LTBP1	.	nonsynonymous SNV	LTBP1:NM_000627:exon16:c.C2217G:p.H739Q,LTBP1:NM_001166264:exon16:c.C2217G:p.H739Q,LTBP1:NM_001166265:exon16:c.C2058G:p.H686Q,LTBP1:NM_001166266:exon16:c.C2058G:p.H686Q,LTBP1:NM_206943:exon20:c.C3195G:p.H1065Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0329969010625	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	2.723e-06	0	5.975e-05	2.3e-07	9e-08	9.9e-06	3.7e-06	5.975e-05	0	0	0	0	0	0	0	0	6.57e-06	6.567e-06	1.285e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.244	0.17468	T	0.471	0.12211	T	0.098	0.25584	B	0.029	0.21540	B	.	.	.	.	0.899952	0.28724	N	0.815	0.20815	L	-2.17	0.86624	D	-2.05	0.47008	N	0.428	0.55280	-0.7572	0.57556	T	0.322	0.69125	T	9	0.24368098	0.41586	T	0.032997	0.54670	D	0.438	0.74235	0.398	0.42590	0.738716796048	0.73637	0.43872323451413436	0.43789	0.136235181936	0.15368	0.470541238785	0.34754	T	0.263213	0.63487	T	0.0533388	0.58771	T	-0.161159	0.58247	T	0.12536883354187	0.14948	T	0.842016	0.53849	T	0.11105671	0.26245	0.118778594	0.28671	0.11105671	0.26245	0.118778594	0.28670	-4.289	0.31550	T	.	.	0.160	0.35435	B	.;.;.;.;.	.;.;.;.;.	2.800733	0.36843	20.3	0.93504220096171986	0.23312	0.35171	0.25240	N	AEFDBHCIJ	0.146898	0.27045	N	-0.480965365614023	0.22705	1.214251	-0.294243856944924	0.28288	1.576175	0.999999507315215	0.74766	0.50712	0.20391	0	0.627178	0.54094	0	0.662677	0.59975	0	0.635259	0.50027	0	.	.	5.66	3.84	0.43422	0.330000	0.19460	2.248000	0.31665	0.599000	0.40250	0.058000	0.21700	0.999000	0.35428	0.131000	0.19607	0.0:0.7749:0.0:0.2251	7.411	0.26192	854	0.34840	Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;Complement Clr-like EGF domain|EGF-like, conserved site|EGF-like domain|EGF-like calcium-binding domain|EGF-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3690.83	33	chr2	33293242	.	C	G	3690.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.045;DP=877;ExcessHet=0.119;FS=0.435;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-0.312;SOR=0.656	GT:AD:DP:GQ:PL	0/1:70,62:132:99:1469,0,1774	17	0	2	0
chr2	36990652	36990652	G	A	exonic	HEATR5B	.	nonsynonymous SNV	HEATR5B:NM_019024:exon34:c.C5693T:p.P1898L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.033576986744	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.399e-06	1.368e-06	0	2.823e-06	1.826e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.826e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.253	0.16958	T	0.246	0.23984	T	0.044	0.21686	B	0.03	0.21741	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.59	0.40313	L	-0.17	0.65563	T	-5.79	0.88065	D	0.866	0.86297	-0.8360	0.52911	T	0.193	0.54652	T	10	0.6144354	0.67626	D	0.033577	0.55080	D	0.404	0.71714	0.447	0.50629	0.618220796974	0.61513	0.48376111353466017	0.48296	0.170914286032	0.19256	0.796208024025	0.81386	T	0.209461	0.56968	T	0.318224	0.84345	D	0.219331	0.84141	D	0.987682282924652	0.78133	D	0.965953	0.87464	D	0.41168737	0.61533	0.4691633	0.69212	0.41168737	0.61534	0.4691633	0.69212	-5.657	0.43309	T	.	.	0.361	0.57286	A	.	.	4.394536	0.67843	25.2	0.92666016277297514	0.22147	0.99270	0.93736	D	AEFGBI	0.867027	0.78666	D	0.100961791171577	0.46506	2.890058	0.30405626131778	0.55778	3.740601	0.99999999981663	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.52	5.52	0.82153	9.964000	0.99056	9.766000	0.81532	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.0:1.0:0.0	19.445	0.94836	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2244.83	34	chr2	36990652	.	G	A	2244.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.09;DP=779;ExcessHet=0.119;FS=1.154;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.657;SOR=0.789	GT:AD:DP:GQ:PL	0/1:46,48:94:99:1189,0,1245	17	0	2	0
chr2	44343945	44343945	T	C	exonic	PREPL	.	nonsynonymous SNV	PREPL:NM_001042385:exon4:c.A416G:p.N139S,PREPL:NM_001042386:exon4:c.A416G:p.N139S,PREPL:NM_001171613:exon4:c.A149G:p.N50S,PREPL:NM_001171617:exon4:c.A149G:p.N50S,PREPL:NM_001374277:exon4:c.A149G:p.N50S,PREPL:NM_006036:exon4:c.A416G:p.N139S,PREPL:NM_001171603:exon5:c.A416G:p.N139S,PREPL:NM_001171606:exon5:c.A416G:p.N139S,PREPL:NM_001374275:exon5:c.A416G:p.N139S,PREPL:NM_001374276:exon5:c.A416G:p.N139S	.	430	1090	2	0	0	2	0.00091659	.	.	.	518241	not_provided|PREPL-related_disorder|Myasthenic_syndrome,_congenital,_22	MedGen:C3661900|.|MONDO:MONDO:0044299,MedGen:C4479088,OMIM:616224	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.038	0.00412292526536	0.0025	0.000199681	0.0028	0.0006	0.0007	0	0.0008	0.0047	0.0034	0.0001	0.0004398	68	154602	rs138555092	0.0024	0.0024	0.0024	0.0023	0.0038	0.0023	0.0023	0.0026	0.0024	0.0006	0.0008	0.0100	0	0.0013	0.0038	0.0025	0.0031	0.0002	0.0014	0.0014	0.0016	0.0012	0.0020	0.0013	0.0012	0.0017	0.0016	0.0005	0.0055	0.0007	0.0089	0	0.0009	0.0034	0.0020	0.0009	0.0002	0.307	0.14159	T	0.556	0.12211	T	0.0	0.07471	B	0.001	0.12992	B	0.596725	0.10997	N	0.834058	0.999987	0.18878	N	0.345	0.11182	N	1.09	0.39223	T	-0.13	0.42957	N	0.063	0.04547	-1.0170	0.24690	T	0.044	0.18742	T	10	0.0030634105	0.00051	T	0.004123	0.09869	T	0.038	0.09825	.	.	0.143124449307	0.13826	0.14062476374069	0.13985	0.00548066125561	0.00480	0.255181491375	0.04334	T	0.015173	0.18622	T	-0.677117	0.00050	T	-0.747514	0.03583	T	0.00330174723611626	0.00035	T	0.737626	0.40554	T	0.016988471	0.00237	0.022017227	0.00236	0.019390598	0.00469	0.022566486	0.00279	-2.744	0.09621	T	0.13388803545867412	0.14412	0.066	0.10545	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	-0.740964	0.01229	0.062	0.87772938032960868	0.17471	0.06337	0.12335	N	AEFBI	0.057676	0.10764	N	-1.26476096307748	0.04108	0.1847762	-1.23775729273645	0.05315	0.2529345	0.960741922608	0.28509	0.732398	0.92422	0	0.659464	0.62310	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.6	-8.58	0.00780	-1.158000	0.03264	-5.567000	0.01672	-0.722000	0.03793	0.004000	0.16614	0.000000	0.08366	0.969000	0.54022	0.0935:0.5326:0.0:0.3739	11.738	0.51042	835	0.38313	.;.;.;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;Peptidase S9A, N-terminal domain;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.003528	0.000000	0.004076	0.008772	0.050000	0.008621	0.003049	0.000000	0.02632	979.33	37	chr2	44343945	.	T	C	979.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.11;DP=690;ExcessHet=0;FS=2.086;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.6;ReadPosRankSum=-1.381;SOR=1.056	GT:AD:DP:GQ:PL	0/1:35,37:72:99:993,0,840	18	0	1	0
chr2	47905552	47905554	GCT	-	exonic	FBXO11	.	nonframeshift deletion	FBXO11:NM_001190274:exon1:c.167_169del:p.Q56del	.	419	1077	19	0	7	26	0.00874367	.	.	.	1356566	not_provided	MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	.	.	0.0219	0	0	0	0	0.0109	0	0.0282	3.84e-05	1	26028	rs746953076	0.0013	0.0065	0.0012	0.0013	0.0028	0.0012	0.0012	0.0022	0.0020	0.0014	0.0022	0.0010	0.0015	0.0022	0.0007	0.0012	0.0012	0.0028	0.0002	0.0003	0.0002	0.0002	0.0003	0.0001	0.0001	0.0002	0.0001	0.0003	0	0.0001	0	0	0.0001	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	85.29	21	chr2	47905551	.	GGCT	G	85.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.707;DP=549;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.16;ReadPosRankSum=-2.312;SOR=0.336	GT:AD:DP:GQ:PL	0/1:23,4:27:99:99,0,903	18	0	1	0
chr2	53813024	53813024	A	C	exonic	ERLEC1	.	nonsynonymous SNV	ERLEC1:NM_001127398:exon10:c.A1015C:p.N339H,ERLEC1:NM_001127397:exon11:c.A1177C:p.N393H,ERLEC1:NM_015701:exon11:c.A1177C:p.N393H	.	427	1092	3	0	0	3	0.00137174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0826024780415	0.0009	0.000199681	0.0012	0.0003	0.0007	0	0	0.0018	0	0.0010	0.0012225	189	154602	rs139630231	0.0016	0.0016	0.0017	0.0015	0.0020	0.0016	0.0015	0.0019	0.0019	0.0001	0.0005	0	0	0.0002	0.0009	0.0020	0.0011	0.0008	0.0009	0.0009	0.0011	0.0008	0.0016	0.0008	0.0007	0.0014	0.0013	0.0002	0.0077	0.0004	0	0	9.414e-05	0	0.0016	0	0.0008	0.249	0.28271	T	0.156	0.31833	T	0.999	0.77913	D	0.982	0.75477	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.46	0.71463	M	3.8	0.48769	T	-1.95	0.47175	N	0.8	0.84817	-0.4321	0.70998	T	0.280	0.65189	T	9	0.10999063	0.20540	T	0.082602	0.73936	D	0.175	0.44197	.	.	0.531342499125	0.52783	0.7136145514444947	0.71304	0.619018765651	0.56272	0.638254642487	0.58315	T	0.22811	0.59357	T	-0.25062	0.14021	T	-0.138632	0.60236	T	0.0541893295129363	0.06222	T	0.947605	0.79780	D	0.2852898	0.51551	0.26691777	0.52543	0.2852898	0.51550	0.26691777	0.52542	-3.916	0.63377	T	.	.	0.150	0.33249	B	.;.;.	.;.;.	4.223946	0.63913	24.6	0.99126054744599512	0.53116	0.95996	0.67064	D	AEFBCI	0.896859	0.83839	D	0.603790936126484	0.73412	5.962233	0.665339639922427	0.79759	7.150421	0.999994021826585	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.77	5.77	0.91077	8.736000	0.91258	11.277000	0.91602	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	1.0:0.0:0.0:0.0	16.395	0.83423	911	0.21964	.;Protein OS9-like;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3108.83	37	chr2	53813024	.	A	C	3108.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.06;DP=887;ExcessHet=0.119;FS=1.947;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.57;ReadPosRankSum=1.35;SOR=0.831	GT:AD:DP:GQ:PL	0/1:69,60:129:99:1401,0,1627	17	0	2	0
chr2	55672909	55672909	C	G	exonic	PNPT1	.	nonsynonymous SNV	PNPT1:NM_033109:exon9:c.G850C:p.V284L	Combined oxidative phosphorylation deficiency 13, Autosomal recessive;Deafness, autosomal recessive 70, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.175	0.0123105707603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.597	0.05686	T	0.61	0.07691	T	0.001	0.07471	B	0.012	0.16012	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.07	0.27075	L	0.38	0.57575	T	-0.38	0.13418	N	0.572	0.59478	-1.0505	0.14258	T	0.117	0.41363	T	10	0.31811035	0.49214	T	0.012311	0.30768	T	0.175	0.44197	0.394	0.41935	0.415205042976	0.41139	0.4911910135296833	0.49040	0.135733827695	0.15309	0.514081656933	0.40794	T	0.015767	0.13159	T	-0.0209662	0.48717	T	-0.267893	0.48033	T	0.635170102119446	0.37833	D	.	.	.	0.4233349	0.62313	0.31171015	0.57177	0.4233349	0.62313	0.31171015	0.57176	-1.663	0.02134	T	0.08988623713153274	0.05541	0.143	0.31381	B	.	.	2.444385	0.31468	18.75	0.97812776300310422	0.36142	0.98800	0.87016	D	AEFDBIJ	0.639302	0.61741	D	-0.0303406047666719	0.40485	2.405057	0.196315068735688	0.49643	3.165191	0.999999999999931	0.74766	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	4.685000	0.61381	3.312000	0.37472	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:1.0:0.0:0.0	20.363	0.98865	608	0.67185	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5079.83	34	chr2	55672909	.	C	G	5079.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=1032;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.728;SOR=0.675	GT:AD:DP:GQ:PL	0/1:112,73:185:99:1766,0,2890	17	0	2	0
chr2	60787527	60787527	A	G	exonic	PAPOLG	.	nonsynonymous SNV	PAPOLG:NM_022894:exon15:c.A1303G:p.M435V	.	.	.	.	.	.	.	.	.	.	.	2341001	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.528	0.00674578660019	.	.	8.438e-05	0.0001	0.0004	0	0	7.704e-05	0	0	7.76e-05	12	154602	rs531545418	6.637e-05	6.704e-05	7.216e-05	6.052e-05	0.0004	5.563e-05	5.153e-05	0.0003	0.0002	5.976e-05	0.0004	0	2.52e-05	1.873e-05	0.0002	5.216e-05	6.625e-05	0.0001	5.913e-05	5.91e-05	3.854e-05	8.068e-05	0.0003	3.077e-05	2.21e-05	8.881e-05	5.389e-05	2.412e-05	0	0.0003	0	0	0	0	4.41e-05	0.0005	0	0.101	0.68238	T	0.208	0.63109	T	0.203	0.29776	B	0.114	0.31755	B	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.835	0.48228	L	.	.	.	-2.54	0.59389	D	0.689	0.69474	-0.4206	0.71373	T	0.319	0.68848	T	9	0.4466288	0.58437	T	0.006746	0.17812	T	0.528	0.80067	0.57	0.69299	0.761725014765	0.75955	0.755533015738392	0.75500	0.828076181443	0.67503	0.793049573898	0.80906	T	0.084432	0.37277	T	0.171351	0.71247	D	0.330323	0.89522	D	0.136609569191933	0.15980	T	0.920508	0.71260	D	0.45826307	0.64563	0.31622043	0.57604	0.45826307	0.64563	0.31622043	0.57603	-8.716	0.65850	D	.	.	0.145	0.54346	B	.;.	.;.	4.403021	0.68047	25.2	0.99429335503709004	0.64179	0.99564	0.97489	D	AEFBI	0.730609	0.67795	D	0.456186003266956	0.64554	4.712672	0.523149522365889	0.69551	5.376545	0.986439182449511	0.31063	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.41	5.41	0.78313	7.022000	0.76169	11.271000	0.91406	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.863:0.0:0.0:0.137	11.237	0.48177	697	0.58201	Poly(A) polymerase, RNA-binding domain;Poly(A) polymerase, RNA-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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	1788.83	34	chr2	60787527	.	A	G	1788.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.45;DP=713;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.2;ReadPosRankSum=0.827;SOR=0.734	GT:AD:DP:GQ:PL	0/1:30,29:59:99:784,0,763	17	0	2	0
chr2	60921972	60921972	A	G	exonic	REL	.	nonsynonymous SNV	REL:NM_001291746:exon10:c.A1201G:p.T401A,REL:NM_002908:exon11:c.A1297G:p.T433A	.	431	1067	24	0	0	24	0.0111214	.	.	.	733528	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.036	.	.	0.00459265	0.0033	0.0003	0.0005	0	0	0.0005	0.0077	0.0211	0.0028201	436	154602	rs140572082	0.0016	0.0016	0.0009	0.0022	0.0208	0.0015	0.0015	0.0200	0.0197	2.987e-05	0.0003	0	2.519e-05	0	0.0061	0.0003	0.0018	0.0208	0.0009	0.0009	0.0006	0.0012	0.0219	0.0008	0.0007	0.0186	0.0173	9.623e-05	0	0.0001	0	0	0	0.0034	0.0004	0.0009	0.0219	0.931	0.02361	T	0.653	0.06666	T	0.0	0.02946	B	0.001	0.04355	B	0.975791	0.08128	N	0.989793	0.999933	0.19853	N	0.72	0.18721	N	1.06	0.40749	T	-0.55	0.23372	N	0.032	0.03956	-0.9844	0.33975	T	0.040	0.17106	T	10	0.0020952523	0.00030	T	.	.	.	0.036	0.09122	.	.	0.280695755116	0.27685	0.33204263853791494	0.33117	0.0243229922235	0.02469	0.292723655701	0.09320	T	0.079147	0.36059	T	-0.672401	0.00053	T	-0.722377	0.04681	T	0.00769686937979461	0.00090	T	0.536146	0.17993	T	0.0357839	0.04279	0.030290687	0.01466	0.0357839	0.04279	0.030290687	0.01466	-3.865	0.21779	T	.	.	0.068	0.02702	B	.;.	.;.	0.207448	0.05916	2.354	0.24107665710983678	0.01050	0.02465	0.06921	N	AEFDGBI	0.016011	0.00335	N	-1.32432753801039	0.03398	0.1517489	-1.2522205290029	0.05098	0.2421176	0.39373419388631	0.20069	0.67177	0.52595	0	0.702456	0.74545	0	0.679469	0.61720	0	0.635551	0.53088	0	.	.	5.4	-3.03	0.05100	-0.361000	0.07664	-0.706000	0.07772	-0.056000	0.16711	0.014000	0.18986	0.000000	0.08366	0.972000	0.54974	0.3146:0.0:0.5438:0.1415	7.564	0.27033	578	0.69858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.006546	0.000000	0.004076	0.011696	0.000000	0.000000	0.000000	0.034091	0.1053	7382.43	34	chr2	60921972	.	A	G	7382.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.84;DP=1149;ExcessHet=0.7564;FS=1.738;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=12.06;ReadPosRankSum=-0.145;SOR=0.625	GT:AD:DP:GQ:PL	0/1:84,51:135:99:1356,0,2379	15	0	4	0
chr2	75652233	75652233	G	A	exonic	MRPL19	.	nonsynonymous SNV	MRPL19:NM_014763:exon3:c.G313A:p.V105I	.	441	1063	17	1	0	19	0.00885781	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	.	0.0066	0.00698882	0.0064	0.0015	0.0051	0	0.0038	0.0089	0.0067	0.0050	0.0067205	1039	154602	rs41382847	0.0078	0.0079	0.0077	0.0078	0.0135	0.0076	0.0076	0.0110	0.0101	0.0015	0.0069	0.0156	7.605e-05	0.0035	0.0135	0.0084	0.0089	0.0051	0.0072	0.0072	0.0072	0.0071	0.0106	0.0068	0.0067	0.0093	0.0088	0.0019	0.0648	0.0106	0.0173	0	0.0035	0.0238	0.0092	0.0118	0.0077	0.337	0.12837	T	0.609	0.18232	T	0.049	0.22227	B	0.139	0.33484	B	0.005705	0.32572	N	0.350899	0.820154	0.34764	D	2.215	0.62545	M	.	.	.	-0.62	0.18248	N	0.131	0.13341	-0.9021	0.47771	T	0.160	0.49497	T	9	0.0036410093	0.00067	T	.	.	.	0.093	0.26882	.	.	0.388970301349	0.38507	0.38865756458208917	0.38780	0.124701401956	0.14047	0.263330161572	0.05293	T	0.02843	0.20599	T	-0.562607	0.00245	T	-0.574808	0.15011	T	0.0129354608994399	0.00223	T	0.846715	0.52677	T	0.061409265	0.12713	0.058713328	0.10896	0.061409265	0.12713	0.058713328	0.10895	-4.238	0.27298	T	.	.	0.071	0.08802	B	.;.;.;.	.;.;.;.	1.401483	0.18154	13.58	0.88444799273911778	0.17982	0.87846	0.47528	D	AEFBI	0.224617	0.34882	N	-0.429890856278066	0.24428	1.318859	-0.37311085757294	0.25802	1.421183	0.988494046095323	0.31535	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.85	-0.463	0.11557	2.128000	0.41668	0.714000	0.20960	-0.113000	0.14837	1.000000	0.71638	0.981000	0.30433	0.996000	0.76049	0.3156:0.0:0.6844:0.0	10.753	0.45421	958	0.09170	.;.;.;.	RP11-342K6.2|MRPL19	Muscle_Skeletal|Nerve_Tibial	GCFC2	Brain_Nucleus_accumbens_basal_ganglia	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.015121	0.020408	0.016304	0.008772	0.050000	0.017241	0.012195	0.015152	0.02632	326.33	34	chr2	75652233	.	G	A	326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.514;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=6.94;ReadPosRankSum=-0.022;SOR=0.576	GT:AD:DP:GQ:PL	0/1:29,18:47:99:340,0,665	18	0	1	0
chr2	75689214	75689214	G	T	exonic	GCFC2	.	nonsynonymous SNV	GCFC2:NM_001201334:exon10:c.C844A:p.Q282K,GCFC2:NM_003203:exon10:c.C1351A:p.Q451K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.00321354024211	.	0.000399361	9.148e-05	0	0	0.0012	0	1.511e-05	0	0	8.41e-05	13	154602	rs187749452	9.14e-06	1.642e-05	9.821e-06	8.457e-06	0.0002	5.1e-06	3.93e-06	0.0001	8.856e-05	0	0	0	0.0002	0	0	0	0	4.781e-05	2.629e-05	2.625e-05	1.286e-05	4.032e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.381e-05	0	0	0	0	0.0006	0	0	0	0	0.0002	0.858	0.02684	T	0.188	0.28669	T	0.027	0.19556	B	0.012	0.16012	B	0.088765	0.20463	N	0.523932	0.999268	0.23357	N	0.84	0.21119	L	2.62	0.12988	T	-0.36	0.13035	N	0.181	0.24260	-0.9610	0.38993	T	0.020	0.08453	T	10	0.012213767	0.00263	T	0.003214	0.07057	T	0.058	0.16647	.	.	0.167679373172	0.16340	0.18075085904401533	0.17994	0.114616797068	0.12926	0.284994721413	0.08198	T	0.016387	0.13553	T	-0.550707	0.00289	T	-0.657744	0.08418	T	0.024569147987575	0.01217	T	0.610139	0.23115	T	0.06803471	0.14787	0.049918775	0.07728	0.06803471	0.14786	0.049918775	0.07728	-6.051	0.46703	T	.	.	0.079	0.07412	B	.;.	.;.	2.056745	0.26148	17.02	0.72012629930230654	0.09825	0.48190	0.28151	N	AEFBI	0.085655	0.17364	N	-0.485645776220878	0.22551	1.204894	-0.316637581225131	0.27561	1.530203	0.00920931828376598	0.11815	0.732398	0.92422	0	0.743671	0.97443	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	4.71	3.8	0.42887	0.535000	0.22822	4.881000	0.45666	0.676000	0.76740	0.913000	0.31760	1.000000	0.68203	0.981000	0.58702	0.0:0.1671:0.6291:0.2038	7.753	0.28076	952	0.10565	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	769.33	33	chr2	75689214	.	G	T	769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=669;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.7;ReadPosRankSum=2.03;SOR=0.714	GT:AD:DP:GQ:PL	0/1:21,28:49:99:783,0,497	18	0	1	0
chr2	84443366	84443366	C	T	exonic	SUCLG1	.	nonsynonymous SNV	SUCLG1:NM_003849:exon3:c.G236A:p.G79D	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	YES	200025	SUCLG1-related_disorder|Mitochondrial_DNA_depletion_syndrome_9|Mitochondrial_DNA_depletion_syndrome|not_specified|not_provided	.|MONDO:MONDO:0009504,MedGen:C3151476,OMIM:245400,Orphanet:17|MONDO:MONDO:0018158,MedGen:C0342782,OMIM:PS603041,Orphanet:35698|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.915	0.359913555663	0.0011	0.000599042	0.0014	0.0003	0.0010	0	0.0002	0.0023	0.0033	0	0.0013842	214	154602	rs143030960	0.0014	0.0014	0.0014	0.0014	0.0023	0.0014	0.0014	0.0015	0.0015	0.0002	0.0011	0.0060	0	0.0002	0.0023	0.0016	0.0016	3.478e-05	0.0010	0.0010	0.0010	0.0009	0.0014	0.0008	0.0008	0.0011	0.0011	0.0004	0.0066	0.0006	0.0066	0	0	0	0.0014	0.0005	0	0.002	0.72154	D	0.005	0.72224	D	0.998	0.73220	D	0.978	0.74104	D	0.000000	0.84330	D	0.000000	1	0.81001	D	4.75	0.99567	H	-2.8	0.91076	D	-6.27	0.90648	D	0.983	0.99260	1.065	0.98458	D	0.917	0.97267	D	10	0.16022444	0.30085	T	0.359914	0.92485	D	0.915	0.97776	.	.	0.9926914044	0.99260	0.948245519256547	0.94807	0.292823477576	0.31705	0.750353336334	0.74499	T	0.788196	0.94471	D	0.176874	0.71756	D	0.474507	0.94093	D	0.222433403134346	0.21584	T	0.982502	0.94093	D	0.9234007	0.93580	0.83897597	0.90770	0.9234007	0.93581	0.83897597	0.90771	-11.023	0.79785	D	0.47542989893253995	0.55509	0.285	0.51763	B	.	.	5.097245	0.85145	28.5	0.99566450329433309	0.72136	0.98923	0.88681	D	AEFGBI	0.957157	0.97616	D	1.07405079728207	0.97624	16.45562	0.971905966767046	0.98006	17.21681	0.999999999999843	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.9	5.9	0.94952	7.892000	0.85858	7.587000	0.61135	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.786000	0.37147	0.0:1.0:0.0:0.0	17.771	0.88401	807	0.43470	CoA-binding|CoA-binding	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.017241	0.003049	0.003788	0.02632	825.33	33	chr2	84443366	.	C	T	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.678;DP=682;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.9;ReadPosRankSum=-0.612;SOR=0.811	GT:AD:DP:GQ:PL	0/1:30,34:64:99:839,0,874	18	0	1	0
chr2	94876731	94876731	C	T	exonic	TEKT4	.	nonsynonymous SNV	TEKT4:NM_001286559:exon6:c.C724T:p.R242C,TEKT4:NM_144705:exon6:c.C1270T:p.R424C	.	422	173	925	2	0	929	0.728627	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0041459355799	.	0.000199681	0.0026	0.0055	0.0008	0.0029	0.0009	0.0031	0.0024	0.0009	0.0016136	42	26028	rs1052809	2.266e-05	4.721e-05	2.05e-05	2.484e-05	0.0002	1.616e-05	1.421e-05	7.131e-05	5.487e-05	5.977e-05	6.711e-05	0	0	0	0.0002	9.902e-06	8.287e-05	0.0001	6.572e-06	6.567e-06	0	1.345e-05	6.545e-05	0	0	.	.	0	0	6.545e-05	0	0	0	0	0	0	0	0.103	0.30097	T	0.066	0.44501	T	0.572	0.38625	P	0.148	0.34065	B	0.002019	0.37457	N	0.261531	0.999997	0.58761	D	1.775	0.45938	L	4.11	0.02916	T	-4.13	0.75139	D	0.316	0.35620	-0.8786	0.49872	T	0.010	0.03856	T	10	0.01365149	0.00289	T	0.004146	0.09931	T	0.132	0.35948	.	.	0.491455083755	0.48780	0.5777951626377072	0.57708	0.0586537782296	0.06507	0.432330518961	0.29528	T	0.138567	0.47212	T	-0.133279	0.30966	T	-0.429223	0.30023	T	0.0535928154404934	0.06120	T	0.627737	0.24333	T	0.19040447	0.40625	0.158895	0.37084	0.19040447	0.40624	0.158895	0.37084	-4.535	0.31344	T	.	.	0.086	0.10883	B	.	.	2.921119	0.38776	20.8	0.98416532006618407	0.41234	0.09068	0.14897	N	AEFDGBI	0.064399	0.12503	N	-0.384009387342546	0.26038	1.418045	-0.456280458516489	0.23371	1.274154	0.0109668901558148	0.12109	0.646311	0.45356	0	0.844039	0.99811	0	0.478664	0.07449	1	0.604944	0.38103	0	.	.	2.43	2.43	0.28797	1.541000	0.35732	0.966000	0.23025	0.302000	0.18967	0.091000	0.22601	0.000000	0.08366	0.392000	0.26603	0.0:1.0:0.0:0.0	10.548	0.44261	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.045317	0.136364	0.005435	0.035088	0.000000	0.043103	0.076220	0.030303	0.4211	17880.0	561	chr2	94876731	.	C	T	17880.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.372;DP=6867;ExcessHet=25.4433;FS=3.492;InbreedingCoeff=-0.7272;MLEAC=16;MLEAF=0.421;MQ=57.57;MQRankSum=-19.85;QD=2.71;ReadPosRankSum=-1.021;SOR=1.026	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:325,31:356:99:0|1:94876731_C_T:165,0,8329:94876731	3	0	16	0
chr2	95855390	95855390	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5969G:p.N1990S	.	445	446	628	3	0	634	0.415465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	.	.	.	0.4725	0.4791	0.4803	0.4672	0.4880	0.4733	0.4644	0.4563	0.0898263	2338	26028	rs5005871	6.166e-06	8.414e-05	8.18e-06	4.132e-06	1.162e-05	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0002	0	0	0	1.162e-05	8.21e-05	0.0014	8.013e-05	8.417e-05	0.0001	4.669e-05	3.648e-05	4.891e-05	3.155e-05	0.0001	0	0.0001	0	0	0.0003	0	3.041e-05	0	0	0.015	0.52492	D	0.034	0.52727	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.56	0.13673	T	-1.08	0.28084	N	0.033	0.00882	-0.9453	0.41764	T	0.020	0.08266	T	7	0.002589792	0.00039	T	.	.	.	0.055	0.15663	.	.	.	.	0.012446412429317067	0.01203	.	.	.	.	.	0.01031	0.09320	T	-0.355653	0.04382	T	-0.748648	0.03539	T	0.0108537478151246	0.00155	T	0.411359	0.10665	T	0.03944852	0.05450	0.041137557	0.04607	0.03944852	0.05449	0.041137557	0.04607	-4.418	0.29800	T	.	.	0.294	0.52491	B	.	.	0.798647	0.11694	8.273	0.5612225942636786	0.05485	0.02449	0.06892	N	AEFI	0.055298	0.10127	N	-1.21497369849486	0.04782	0.2165626	-1.43546346583335	0.02904	0.1344849	0.00116623651718095	0.08293	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-5.28	0.02543	0.547000	0.23007	-2.563000	0.03605	-0.638000	0.04459	0.451000	0.26573	0.000000	0.08366	0.008000	0.08271	0.3266:0.1273:0.3289:0.2173	0.771	0.00959	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	25429.3	297	chr2	95855390	.	T	C	25429.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.2;DP=4819;ExcessHet=48.2876;FS=21.823;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.65;MQRankSum=-11.56;QD=5.47;ReadPosRankSum=-6.798;SOR=2.121	GT:AD:DP:GQ:PL	0/1:175,45:220:99:828,0,4921	0	0	19	0
chr2	95855406	95855406	C	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.G5953C:p.D1985H	.	432	686	404	0	0	404	0.227477	.	.	.	679191	not_provided|Peritoneal_Gliomatosis	MedGen:C3661900|MedGen:C2938915	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.033	.	.	.	0.0207	0.0594	0.0264	0.0384	0.0257	0.0114	0.0158	0.0254	0.0092593	241	26028	rs77972623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.294	0.14793	T	0.006	0.70582	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	1.92	0.00446	N	0.043	0.01577	-0.9422	0.42266	T	0.018	0.07282	T	7	0.0040079057	0.00077	T	.	.	.	0.033	0.08068	.	.	.	.	0.021892873855974753	0.02141	.	.	.	.	.	7.49E-4	0.00347	T	-0.353158	0.04532	T	-0.745064	0.03682	T	0.0110150628429415	0.00159	T	0.357964	0.08163	T	0.04395806	0.06944	0.059117828	0.11040	0.04395806	0.06944	0.059117828	0.11039	-2.163	0.03865	T	.	.	0.356	0.56978	A	.	.	1.452510	0.18737	13.90	0.61318576741591302	0.06679	0.06233	0.12222	N	AEFI	0.034264	0.04212	N	-0.644002368178195	0.17635	0.9091262	-0.743295799460967	0.15887	0.8377953	9.51251238247756E-6	0.01202	0.656854	0.48797	0	0.653731	0.59785	0	0.565031	0.19037	0	0.699908	0.69081	0	.	.	2.64	-0.833	0.10237	1.509000	0.35387	1.837000	0.29159	0.284000	0.18682	1.000000	0.71638	0.009000	0.19889	0.063000	0.16184	0.1431:0.5616:0.2953:0.0	6.110	0.19319	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3255.24	342	chr2	95855406	.	C	G	3255.24	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.246;DP=5290;ExcessHet=17.0548;FS=5.715;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=53.82;MQRankSum=-6.005;QD=0.86;ReadPosRankSum=-2.675;SOR=1.39	GT:AD:DP:GQ:PL	0/1:208,43:251:99:577,0,5998	5	0	14	0
chr2	95855549	95855549	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5810G:p.N1937S	.	442	278	792	10	0	812	0.593567	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.4955	0.4792	0.5	0.4994	0.4998	0.4950	0.4987	0.4997	0.0874443	2276	26028	rs5005869	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	6.573e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.296	0.14694	T	0.507	0.10930	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.62	0.12988	T	-0.23	0.10656	N	0.021	0.00339	-0.9299	0.44153	T	0.011	0.04088	T	7	0.0016410053	0.00020	T	.	.	.	0.027	0.05988	.	.	.	.	0.0144060030913769	0.01397	.	.	.	.	.	0.002	0.01223	T	-0.411715	0.01936	T	-0.829176	0.01277	T	0.00502627076001595	0.00054	T	0.545645	0.18668	T	0.016608926	0.00209	0.02213417	0.00245	0.016608926	0.00209	0.02213417	0.00245	-4.21	0.26896	T	.	.	0.100	0.17060	B	.	.	-0.269215	0.02755	0.369	0.23312518342213173	0.00979	0.00866	0.03436	N	AEFI	0.023348	0.01289	N	-1.09098549269488	0.06808	0.3144812	-1.2104876692623	0.05741	0.2743807	9.86009276359309E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-0.838	0.10218	0.492000	0.22144	-6.933000	0.01270	0.312000	0.19173	0.073000	0.22155	0.000000	0.08366	0.002000	0.04165	0.0:0.3513:0.0:0.6487	6.069	0.19105	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	60963.4	298	chr2	95855549	.	T	C	60963.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.128;DP=6596;ExcessHet=48.2876;FS=13.468;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.36;MQRankSum=-12.9;QD=9.49;ReadPosRankSum=0.896;SOR=1.314	GT:AD:DP:GQ:PL	0/1:212,141:353:99:2822,0,5835	0	0	19	0
chr2	95855576	95855576	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.T5783C:p.I1928T	.	453	483	584	2	0	588	0.378378	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	.	.	.	0.0351	0.0714	0.0215	0.0369	0.0035	0.0411	0.0420	0.0134	0.0472952	1231	26028	rs5005868	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0002	0.0003	0.0003	8.988e-05	0	0	0	0	0	0.0004	0.0001	0	0.0001	0.0001	0.0002	8.079e-05	0.0002	8.674e-05	7.264e-05	0.0001	9.902e-05	0.0001	0	0	0	0	0	0	0.0002	0	0	0.061	0.37118	T	0.076	0.42614	T	.	.	.	.	.	.	.	.	.	.	0.999854	0.20048	N	.	.	.	2.41	0.15492	T	-2.88	0.60507	D	0.111	0.09772	-1.0255	0.21919	T	0.039	0.16634	T	7	0.0018533468	0.00025	T	.	.	.	0.016	0.02506	.	.	.	.	0.019306205368593718	0.01884	.	.	.	.	.	0.00751	0.06912	T	-0.24663	0.14515	T	-0.592043	0.13489	T	0.0121704833066968	0.00195	T	0.355564	0.08068	T	0.13378952	0.31107	0.17544822	0.40011	0.13378952	0.31107	0.17544822	0.40010	-5.456	0.41455	T	.	.	0.137	0.29914	B	.	.	2.390189	0.30693	18.52	0.99376893328488414	0.61715	0.31313	0.24306	N	AEFI	0.047864	0.08107	N	-0.41657885139222	0.24888	1.347055	-0.520845466279587	0.21587	1.168515	1.17212494177188E-4	0.05269	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	2.11	0.26299	1.107000	0.30724	-0.057000	0.12472	0.351000	0.19951	0.797000	0.29682	0.000000	0.08366	0.192000	0.21661	1.0:0.0:0.0:0.0	8.115	0.30096	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	48661.4	222	chr2	95855576	.	A	G	48661.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.413;DP=5637;ExcessHet=48.2876;FS=28.241;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=46.08;MQRankSum=-12.28;QD=8.91;ReadPosRankSum=-3.201;SOR=1.955	GT:AD:DP:GQ:PL	0/1:209,94:303:99:2349,0,5781	0	0	19	0
chr2	95855586	95855586	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5773G:p.M1925V	.	447	884	189	2	0	193	0.0984192	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.000861707961223	.	.	0.0008	0.0001	0.0009	0.0002	0.0002	0.0014	0	0.0001	3.84e-05	1	26028	rs201192250	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.24758	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.59	0.13317	T	-2.2	0.49519	N	0.124	0.11626	-0.9610	0.38993	T	0.019	0.07800	T	7	0.011997491	0.00260	T	8.62E-4	0.00755	T	0.035	0.08770	.	.	0.0806252709748	0.07271	0.015437605054057783	0.01499	.	.	.	.	.	0.004928	0.04354	T	-0.342361	0.05226	T	-0.729554	0.04347	T	0.0291781713714631	0.01865	T	0.515548	0.16619	T	0.11939599	0.28113	0.13833767	0.33041	0.11939599	0.28113	0.13833767	0.33040	-3.711	0.19481	T	.	.	0.227	0.45954	B	.	.	0.618436	0.09867	6.630	0.39056500088029883	0.02672	0.17497	0.19862	N	AEFI	0.042474	0.06596	N	-0.697976344310311	0.16079	0.8160669	-0.828039099870389	0.13816	0.7187932	1.99158050687805E-5	0.02871	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	-2.48	0.06052	0.550000	0.23052	-0.005000	0.13145	0.312000	0.19173	0.994000	0.38300	0.000000	0.08366	0.117000	0.19042	0.3728:0.0:0.19:0.4372	3.442	0.07037	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3421	5066.16	228	chr2	95855586	.	T	C	5066.16	.	AC=13;AF=0.342;AN=38;BaseQRankSum=0.521;DP=5385;ExcessHet=13.8672;FS=16.143;InbreedingCoeff=-0.5518;MLEAC=13;MLEAF=0.342;MQ=47.07;MQRankSum=-6.648;QD=1.42;ReadPosRankSum=-2.146;SOR=2.347	GT:AD:DP:GQ:PL	0/1:254,36:290:99:209,0,10028	6	0	13	0
chr2	95855588	95855588	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon84:c.A5771G:p.Q1924R	.	449	591	480	2	0	484	0.290516	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	.	.	.	0.0306	0.0658	0.0188	0.0337	0.0028	0.0359	0.0324	0.0111	0.0379591	988	26028	rs5005867	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.17	0.22833	T	0.311	0.19660	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.4	0.15608	T	-2.4	0.52776	N	0.054	0.02559	-0.9776	0.35548	T	0.023	0.09968	T	7	0.004524857	0.00093	T	.	.	.	0.035	0.08770	.	.	.	.	0.014319341971499302	0.01388	.	.	.	.	.	0.034191	0.23222	T	-0.342862	0.05192	T	-0.730274	0.04316	T	0.0218009842485075	0.00887	T	0.374863	0.08927	T	0.052712794	0.09870	0.11261669	0.27173	0.052712794	0.09870	0.11261669	0.27172	-5.986	0.46163	T	.	.	0.14	0.30686	B	.	.	1.453026	0.18743	13.90	0.88078949201552847	0.17700	0.32438	0.24585	N	AEFI	0.045481	0.07443	N	-0.542064366665841	0.20732	1.095167	-0.636773118221108	0.18551	0.9915041	9.62839158373236E-6	0.01202	0.706548	0.73137	0	0.724815	0.89359	0	0.565031	0.19037	0	0.636168	0.56350	0	.	.	2.11	0.82	0.17932	2.106000	0.41459	0.119000	0.14890	-0.667000	0.04321	1.000000	0.71638	0.000000	0.08366	0.084000	0.17470	0.0:0.1714:0.2923:0.5363	2.541	0.04438	256	0.89942	CCDC144C-like, coiled-coil domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	36166.4	226	chr2	95855588	.	T	C	36166.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.66;DP=5339;ExcessHet=48.2876;FS=33.512;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.33;MQRankSum=-11.31;QD=6.95;ReadPosRankSum=-3.814;SOR=2.254	GT:AD:DP:GQ:PL	0/1:207,71:278:99:1822,0,5857	0	0	19	0
chr2	95859969	95859969	-	T	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon82:c.4885_4886insA:p.L1629Hfs*4	.	952	362	155	53	0	261	0.264975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4228	0.4631	0.4656	0.4778	0.3159	0.4147	0.4099	0.4349	0.0494083	1286	26028	rs111957693	5.008e-06	5.814e-05	5.648e-06	4.351e-06	.	2.08e-06	1.34e-06	.	.	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	29493.3	133	chr2	95859969	.	A	AT	29493.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.426;DP=2924;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-8.967;QD=10.26;ReadPosRankSum=0.47;SOR=0.821	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,19:134:99:0|1:95859969_A_AT:431,0,4689:95859969	0	0	19	0
chr2	95859970	95859970	G	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4885A:p.L1629M	.	957	355	157	53	0	263	0.270298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	.	.	.	0.4545	0.4802	0.4743	0.4840	0.3659	0.4484	0.4515	0.4666	0.0009221	24	26028	rs77057279	9.318e-06	0.0001	7.073e-06	1.162e-05	.	5.2e-06	4.01e-06	.	.	0	0	0	0	0.0003	0	0	0	0	0	2.631e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.911	0.02361	T	0.243	0.24193	T	0.053	0.22573	B	0.021	0.19346	B	.	.	.	.	0.994063	0.23594	N	.	.	.	2.42	0.15376	T	1.44	0.00794	N	0.079	0.05414	-0.9807	0.34840	T	0.008	0.02801	T	9	0.0015536547	0.00018	T	.	.	.	0.028	0.06331	.	.	.	.	0.0034729447233706272	0.00324	.	.	0.598522663116	0.52695	T	0.002815	0.02207	T	-0.296982	0.08946	T	-0.664371	0.07975	T	0.000298728606434334	0.00002	T	0.227477	0.03026	T	0.060971648	0.12573	0.043196924	0.05321	0.060971648	0.12573	0.043196924	0.05321	-3.51	0.16572	T	.	.	0.079	0.07224	B	.	.	-0.617261	0.01525	0.098	0.057558437599456599	0.00015	0.02138	0.06301	N	AEFI	0.027961	0.02376	N	-1.81372414748207	0.00512	0.02205084	-1.77419214230889	0.00845	0.0377715	9.60209616443048E-5	0.04910	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-3.7	0.04150	-1.387000	0.02641	-5.763000	0.01604	-0.394000	0.05329	0.245000	0.24799	0.000000	0.08366	0.008000	0.08271	0.2827:0.0:0.3453:0.372	3.712	0.07953	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29433.3	135	chr2	95859970	.	G	T	29433.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.157;DP=2921;ExcessHet=48.2876;FS=5.557;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.87;MQRankSum=-9.055;QD=10.21;ReadPosRankSum=0.274;SOR=0.832	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:115,19:134:99:0|1:95859969_A_AT:431,0,4689:95859969	0	0	19	0
chr2	95859975	95859975	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4880A:p.R1627Q	.	957	354	158	53	0	264	0.271605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	.	.	.	0.4301	0.4670	0.4743	0.4733	0.3036	0.4236	0.4062	0.4476	0.00073	19	26028	rs77757712	2.22e-05	6.841e-05	2.827e-05	1.597e-05	8.413e-05	1.591e-05	1.386e-05	2.23e-05	1.218e-05	3.172e-05	8.413e-05	0	0	6.31e-05	0	1.855e-05	1.726e-05	3.789e-05	1.316e-05	1.971e-05	1.286e-05	1.348e-05	6.563e-05	2.19e-06	8.2e-07	.	.	0	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.162	0.23541	T	0.485	0.11725	T	0.055	0.22733	B	0.007	0.12992	B	.	.	.	.	0.999977	0.18612	N	.	.	.	2.42	0.15376	T	-0.1	0.08495	N	0.04	0.01347	-0.9474	0.41414	T	0.010	0.03492	T	9	0.0016048849	0.00019	T	.	.	.	0.036	0.09122	.	.	.	.	0.007547077727271438	0.00720	.	.	0.508793115616	0.40052	T	0.002443	0.01836	T	-0.329346	0.06161	T	-0.710859	0.05250	T	0.00527709899755481	0.00057	T	0.480052	0.14488	T	0.032344773	0.03241	0.03586384	0.02919	0.032344773	0.03241	0.03586384	0.02918	-4.415	0.29759	T	.	.	0.069	0.03231	B	.	.	0.983069	0.13607	10.14	0.66913885358475289	0.08199	0.01513	0.05000	N	AEFI	0.023495	0.01318	N	-1.4910599935179	0.01913	0.08394092	-1.36789013472358	0.03599	0.1682304	1.02737162787131E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.634	0.16889	0.827000	0.27075	-0.579000	0.08386	-0.398000	0.05312	0.991000	0.37257	0.000000	0.08366	0.005000	0.06747	0.0:0.1617:0.0:0.8383	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	29033.3	133	chr2	95859975	.	C	T	29033.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.208;DP=2893;ExcessHet=48.2876;FS=5.618;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.84;MQRankSum=-9;QD=10.11;ReadPosRankSum=0.168;SOR=0.908	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:112,18:130:99:0|1:95859969_A_AT:398,0,4608:95859969	0	0	19	0
chr2	95859988	95859988	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4867G:p.R1623G	.	946	377	143	56	0	255	0.252725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	.	.	0.3985	0.4181	0.4615	0.4624	0.2601	0.3839	0.3829	0.4293	0.0005763	15	26028	rs78585559	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.44029	D	0.037	0.51737	D	0.618	0.39878	P	0.296	0.40883	B	.	.	.	.	1	0.08975	P	.	.	.	2.35	0.16217	T	-2.17	0.49018	N	0.036	0.01068	-1.0403	0.17223	T	0.022	0.09284	T	8	0.0021658242	0.00031	T	.	.	.	0.031	0.07369	.	.	.	.	0.01648333609809802	0.01603	.	.	0.464800566435	0.33968	T	0.014368	0.12243	T	-0.283116	0.10340	T	-0.644453	0.09348	T	0.0103390599998185	0.00141	T	0.690331	0.29972	T	0.11867667	0.27957	0.10622412	0.25550	0.11867667	0.27957	0.10622412	0.25549	-4.221	0.27055	T	.	.	0.167	0.36712	B	.	.	1.395340	0.18086	13.54	0.66348352263891242	0.08032	0.01091	0.04015	N	AEFI	0.037962	0.05300	N	-0.829849498643622	0.12552	0.6125249	-0.95288899799542	0.10856	0.5494909	1.69149918813486E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	1.85	0.24418	-0.401000	0.07293	-0.372000	0.09600	0.443000	0.21123	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.2013:0.0:0.7987	3.593	0.07545	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	26746.3	132	chr2	95859988	.	T	C	26746.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.252;DP=2861;ExcessHet=48.2876;FS=6.76;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.72;MQRankSum=-8.913;QD=9.48;ReadPosRankSum=-0.496;SOR=1.161	GT:AD:DP:GQ:PL	0/1:112,17:129:99:378,0,2908	0	0	19	0
chr2	95860002	95860002	T	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.A4853T:p.H1618L	.	945	422	104	51	0	206	0.19619	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	.	.	.	0.2918	0.3574	0.4353	0.4062	0.1258	0.3207	0.2719	0.2565	0.0003842	10	26028	rs76379993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.73	0.05165	T	0.898	0.49442	P	0.775	0.57058	P	.	.	.	.	1	0.08975	P	.	.	.	2.2	0.18570	T	-7.35	0.94620	D	0.157	0.16308	-0.9983	0.30395	T	0.066	0.27087	T	8	0.0024163425	0.00036	T	.	.	.	0.098	0.28162	.	.	.	.	0.011885642134936694	0.01148	.	.	0.603820681572	0.53443	T	0.17093	0.51885	T	-0.130986	0.31337	T	-0.425929	0.30399	T	0.0896707485037565	0.11179	T	0.667933	0.27701	T	0.5114563	0.67764	0.4059057	0.64978	0.5114563	0.67765	0.4059057	0.64978	-5.063	0.37516	T	.	.	0.223	0.45409	B	.	.	1.545032	0.19810	14.45	0.68803435199818186	0.08772	0.02181	0.06385	N	AEFI	0.047683	0.08056	N	-0.541266882709805	0.20758	1.096673	-0.816850501380551	0.14087	0.7342697	9.81280304122205E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.873	0.10096	1.014000	0.29553	0.760000	0.21307	0.443000	0.21123	0.026000	0.20160	0.002000	0.18203	0.026000	0.12556	0.2602:0.3442:0.0:0.3955	2.065	0.03383	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	18752.3	122	chr2	95860002	.	T	A	18752.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.06;DP=2730;ExcessHet=48.2876;FS=6.113;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.68;MQRankSum=-8.443;QD=6.95;ReadPosRankSum=-0.759;SOR=1.204	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,16:122:99:0|1:95860002_T_A:353,0,4343:95860002	0	0	19	0
chr2	95860007	95860007	A	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.T4848A:p.D1616E	.	965	351	153	53	0	259	0.269511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	.	.	.	0.3716	0.3968	0.4638	0.4468	0.1996	0.3624	0.3348	0.3997	0.000461	12	26028	rs77658288	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.42199	D	0.887	0.03161	T	0.886	0.48745	P	0.685	0.53610	P	.	.	.	.	1	0.08975	P	.	.	.	2.36	0.16089	T	0.87	0.01688	N	0.018	0.00252	-1.0311	0.20099	T	0.037	0.16116	T	8	0.0017204583	0.00022	T	.	.	.	0.058	0.16647	0.102	0.01589	.	.	0.0016336715894167176	0.00151	.	.	0.627778291702	0.56830	T	0.00182	0.01242	T	-0.339353	0.05432	T	-0.725233	0.04547	T	0.0127801602154166	0.00217	T	0.50325	0.15827	T	0.05346143	0.10121	0.066788726	0.13731	0.05346143	0.10121	0.066788726	0.13730	-4.052	0.24579	T	.	.	0.276	0.50970	B	.	.	0.679021	0.10477	7.192	0.92075444711269228	0.21422	0.00300	0.01598	N	AEFI	0.017840	0.00496	N	-0.631580650889932	0.18000	0.9310604	-0.811362641984672	0.14221	0.7419123	9.14715249298931E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.608	0.16746	-0.101000	0.10943	-4.154000	0.02312	0.333000	0.19617	0.036000	0.20778	0.000000	0.08366	0.028000	0.12845	0.5619:0.0:0.0:0.4381	4.768	0.12514	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	23267.3	119	chr2	95860007	.	A	T	23267.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.68;DP=2659;ExcessHet=48.2876;FS=7.204;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.65;MQRankSum=-8.406;QD=8.8;ReadPosRankSum=-1.07;SOR=1.213	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,16:121:99:0|1:95860002_T_A:356,0,4306:95860002	0	0	19	0
chr2	95860020	95860020	G	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.C4835T:p.T1612I	.	975	346	149	52	0	253	0.267725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	.	.	.	0.3429	0.4093	0.4357	0.4212	0.1584	0.3445	0.2982	0.3516	0.0003842	10	26028	rs78780931	7.168e-07	5.473e-06	1.415e-06	0	9.285e-07	0	0	.	.	0	0	0	0	0	0	9.285e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999979	0.18612	P	.	.	.	2.38	0.15843	T	3.02	0.00138	N	0.054	0.02559	-0.9370	0.43088	T	0.010	0.03627	T	8	0.0017494261	0.00022	T	.	.	.	0.071	0.20720	.	.	.	.	0.0033875092255602627	0.00316	.	.	0.597990691662	0.52621	T	2.31E-4	0.00048	T	-0.282657	0.10387	T	-0.643793	0.09394	T	0.00465201252591891	0.00050	T	0.257674	0.04066	T	0.036191136	0.04406	0.044979855	0.05950	0.036191136	0.04405	0.044979855	0.05949	-0.577	0.00632	T	.	.	0.124	0.26042	B	.	.	0.379084	0.07510	4.156	0.096937678722497284	0.00105	0.00352	0.01813	N	AEFI	0.013252	0.00170	N	-1.41969246255212	0.02466	0.1089284	-1.29164163050699	0.04543	0.2145151	1.02751695127801E-5	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	0.635	0.16895	2.080000	0.41211	-0.435000	0.09196	-1.105000	0.01501	0.995000	0.38783	0.000000	0.08366	0.000000	0.00833	0.8383:0.0:0.1617:0.0	5.605	0.16657	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	20158.3	113	chr2	95860020	.	G	A	20158.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.619;DP=2471;ExcessHet=48.2876;FS=6.268;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.59;MQRankSum=-8.166;QD=8.31;ReadPosRankSum=-1.454;SOR=1.226	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,15:107:99:0|1:95860020_G_A:353,0,3806:95860020	0	0	19	0
chr2	95860023	95860023	A	C	exonic	ANKRD36C	.	stopgain	ANKRD36C:NM_001310154:exon82:c.T4832G:p.L1611X	.	975	348	147	52	0	251	0.265048	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3459	0.4102	0.4378	0.4239	0.1587	0.3478	0.2957	0.3558	0.0004226	11	26028	rs74941794	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.64576e-15	0.58761	P	.	.	.	.	.	.	.	.	.	0.039	0.01274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464733	0.93127	D	0.429781	0.93041	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	5.440231	0.90928	32	0.96148246009950666	0.28859	0.36954	0.25651	N	AEFI	0.088588	0.17958	N	-0.131946649004641	0.36007	2.075519	-0.471627380579264	0.22940	1.248476	9.52799824835323E-6	0.01202	0.632932	0.41330	0	0.666794	0.63253	0	0.565031	0.19037	0	0.755437	0.99637	0	.	.	1.85	-0.698	0.10713	0.445000	0.21392	-0.434000	0.09203	-1.250000	0.01303	0.993000	0.37899	0.000000	0.08366	0.002000	0.04165	0.6458:0.0:0.3542:0.0	5.748	0.17400	256	0.89942	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	19380.3	111	chr2	95860023	.	A	C	19380.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.39;DP=2404;ExcessHet=48.2876;FS=7.636;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.56;MQRankSum=-8.267;QD=8.09;ReadPosRankSum=-1.399;SOR=1.289	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:92,15:107:99:0|1:95860020_G_A:353,0,3806:95860020	0	0	19	0
chr2	95860046	95860046	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon82:c.G4809T:p.K1603N	.	996	348	132	46	0	224	0.243478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	.	.	.	0.2995	0.4068	0.4155	0.3993	0.0859	0.3214	0.2411	0.2818	0.0869064	2262	26028	rs79908880	2.159e-06	4.789e-06	1.421e-06	2.916e-06	3.19e-05	5.8e-07	1.6e-07	3.1e-07	1.2e-07	3.19e-05	0	0	0	0	0	1.863e-06	0	0	1.972e-05	1.97e-05	2.57e-05	1.346e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.94e-05	0	0	0.767	0.03412	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	.	.	.	2.33	0.16492	T	1.87	0.00472	N	0.043	0.01577	-0.9644	0.38330	T	0.008	0.02842	T	8	0.0017981231	0.00024	T	.	.	.	0.027	0.05988	0.388	0.40951	.	.	0.009782736317217211	0.00940	.	.	0.538346886635	0.44213	T	0.002324	0.01720	T	-0.380822	0.03079	T	-0.784801	0.02311	T	0.00124196999210505	0.00012	T	0.263374	0.04265	T	0.04313465	0.06669	0.036235157	0.03030	0.04313465	0.06669	0.036235157	0.03030	-0.766	0.00774	T	.	.	0.068	0.02639	B	.	.	-0.084979	0.03731	0.770	0.10447506845337422	0.00132	0.00336	0.01748	N	AEFI	0.012014	0.00120	N	-2.28437407882715	0.00049	0.002118662	-2.21407410585182	0.00104	0.004576006	2.08611004689468E-5	0.02871	0.632932	0.41330	0	0.666794	0.63253	0	0.657636	0.52715	0	0.755437	0.99637	0	.	.	1.85	-2.51	0.05996	1.202000	0.31878	0.062000	0.14145	-1.184000	0.01383	0.735000	0.28974	0.000000	0.08366	0.000000	0.00833	0.4851:0.195:0.1314:0.1885	0.839	0.01073	256	0.89942	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	11904.3	89	chr2	95860046	.	C	A	11904.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.751;DP=1934;ExcessHet=48.2876;FS=11.691;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=58.24;MQRankSum=-9.124;QD=6.3;ReadPosRankSum=-0.315;SOR=1.619	GT:AD:DP:GQ:PL	0/1:80,11:91:99:222,0,2213	0	0	19	0
chr2	95927222	95927222	-	AT	exonic	ANKRD36C	.	frameshift insertion	ANKRD36C:NM_001310154:exon28:c.1930_1931insAT:p.S644Yfs*24	.	585	748	183	6	0	195	0.115316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs745741068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18862.3	164	chr2	95927222	.	G	GAT	18862.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.6;DP=3163;ExcessHet=48.2876;FS=34.38;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.61;MQRankSum=-10.17;QD=6.03;ReadPosRankSum=-5.284;SOR=3.306	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,29:172:99:0|1:95927222_G_GAT:787,0,5897:95927222	0	0	19	0
chr2	95927227	95927228	TT	-	exonic	ANKRD36C	.	frameshift deletion	ANKRD36C:NM_001310154:exon28:c.1925_1926del:p.Q642Pfs*18	.	630	694	193	5	0	203	0.127593	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012	0.0015	0.0011	0.0019	0.0005	0.0013	0	0.0007	0.0009605	25	26028	rs772059065	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	26377.3	184	chr2	95927226	.	GTT	G	26377.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.39;DP=3487;ExcessHet=48.2876;FS=11.32;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.52;MQRankSum=-10.76;QD=7.59;ReadPosRankSum=-5.284;SOR=1.618	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,42:195:99:0|1:95927222_G_GAT:1303,0,6277:95927222	0	0	19	0
chr2	95927234	95927234	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.A1919G:p.E640G	.	638	673	206	5	0	216	0.138284	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.00618498349042	.	.	0.0012	0.0016	0.0011	0.0019	0.0005	0.0013	0	0.0007	3.84e-05	1	26028	rs758839836	6.856e-07	6.84e-07	1.364e-06	0	9.007e-07	0	0	.	.	0	0	0	0	0	0	9.007e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.114	0.36765	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.11	0.77466	T	-0.39	0.13611	N	0.176	0.18920	-0.5261	0.67688	T	0.427	0.77022	T	6	0.03557104	0.01812	T	0.006185	0.16200	T	0.149	0.39377	.	.	0.42989457901	0.42608	0.007308549639332476	0.00696	.	.	.	.	.	0.003258	0.02667	T	-0.0875605	0.38480	T	-0.363551	0.37640	T	0.0366356248361039	0.03091	T	0.168983	0.05631	T	0.062684655	0.13118	0.16541363	0.38267	0.062684655	0.13117	0.16541363	0.38267	-4.184	0.26519	T	.	.	0.130	0.27998	B	.;.	.;.	2.279132	0.29141	18.03	0.9497533031407277	0.25908	0.01715	0.05438	N	AEFBI	0.033788	0.04074	N	-0.603271583609637	0.18846	0.9816864	-0.856632057968517	0.13128	0.6793434	1.06943366512053E-5	0.01202	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	1.624000	0.36629	-0.363000	0.09661	0.319000	0.19345	0.008000	0.17931	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	35910.4	215	chr2	95927234	.	T	C	35910.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.871;DP=3849;ExcessHet=48.2876;FS=7.304;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.28;MQRankSum=-11.77;QD=9.36;ReadPosRankSum=-6.004;SOR=1.205	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,51:217:99:0|1:95927222_G_GAT:1642,0,6817:95927222	0	0	19	0
chr2	95927252	95927252	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.T1901C:p.I634T	.	674	623	216	9	0	234	0.158108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	.	.	.	0.0825	0.1113	0.0839	0.1182	0.1114	0.0793	0.0608	0.0544	3.84e-05	1	26028	rs111976783	2.057e-06	2.052e-06	2.729e-06	1.378e-06	6.728e-05	5.5e-07	1.5e-07	1.784e-05	8.95e-06	0	6.728e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.194	0.28120	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.08	0.77078	T	-0.99	0.26200	N	0.069	0.17278	-0.8026	0.54991	T	0.326	0.69410	T	6	0.0039491355	0.00076	T	.	.	.	0.194	0.47447	.	.	.	.	0.0049901546743311475	0.00471	.	.	.	.	.	0.003965	0.03373	T	-0.0895306	0.38154	T	-0.366381	0.37311	T	0.00782888568937778	0.00092	T	0.441356	0.12522	T	0.056561366	0.11145	0.12979923	0.31201	0.056561366	0.11144	0.12979923	0.31200	-5.925	0.50163	T	.	.	0.180	0.48715	B	.;.	.;.	1.251398	0.16483	12.57	0.92565402419728915	0.22018	0.00377	0.01912	N	AEFBI	0.031745	0.03455	N	-0.892394221719867	0.11022	0.5297326	-1.14952198102138	0.06776	0.3273419	1.22801436175958E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	-1.16	0.09181	0.550000	0.23052	-1.428000	0.05463	0.359000	0.20063	0.011000	0.18532	0.000000	0.08366	0.036000	0.13842	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	63959.4	272	chr2	95927252	.	A	G	63959.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.312;DP=4936;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.51;MQRankSum=-14.02;QD=13;ReadPosRankSum=-5.496;SOR=0.719	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,78:264:99:0|1:95927222_G_GAT:2715,0,7575:95927222	0	0	19	0
chr2	95927268	95927268	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1885T:p.D629Y	.	676	613	224	9	0	242	0.16485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.333	.	.	.	0.0990	0.1443	0.0896	0.1297	0.1231	0.0957	0.0823	0.0698	0.0779227	12047	154602	rs79307257	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.596e-06	6.571e-06	0	1.351e-05	1.477e-05	0	0	.	.	0	0	0	0	0	0	0	1.477e-05	0	0	0.001	0.78490	D	0.026	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.1	0.77336	T	-1.9	0.44284	N	0.173	0.51315	-0.4874	0.69100	T	0.446	0.78240	T	6	0.0048143566	0.00102	T	.	.	.	0.333	0.65522	.	.	.	.	0.012629181598714094	0.01221	.	.	.	.	.	0.007056	0.06479	T	-0.00641558	0.50765	T	-0.246992	0.50114	T	0.852545201778412	0.50387	D	0.59994	0.27277	T	0.11685397	0.27556	0.18900135	0.42222	0.11685397	0.27555	0.18900135	0.42221	-8.156	0.62848	D	.	.	0.178	0.50389	B	.;.	.;.	2.735108	0.35810	20.0	0.94629422228171811	0.25216	0.01477	0.04919	N	AEFBI	0.029319	0.02744	N	-0.591855003156469	0.19190	1.00245	-0.847697327138236	0.13343	0.6916549	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.534000	0.22807	0.568000	0.19578	0.291000	0.18778	0.021000	0.19753	0.000000	0.08366	0.005000	0.06747	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87835.4	322	chr2	95927268	.	C	A	87835.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-5.958;DP=5895;ExcessHet=48.2876;FS=3.314;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.8;MQRankSum=-15.82;QD=14.94;ReadPosRankSum=-3.622;SOR=0.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:205,99:304:99:0|1:95927222_G_GAT:3520,0,8298:95927222	0	0	19	0
chr2	95927277	95927277	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon28:c.G1876A:p.D626N	.	672	616	225	9	0	243	0.164746	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.172	.	.	.	0.0982	0.1425	0.0884	0.1290	0.1219	0.0951	0.0815	0.0693	0.0779679	12054	154602	rs75189823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.57480	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.07	0.76948	T	-0.32	0.12283	N	0.045	0.10626	-0.0304	0.81622	T	0.463	0.79190	T	5	0.0036658943	0.00067	T	.	.	.	0.172	0.43662	.	.	.	.	0.0029834670744068	0.00278	.	.	.	.	.	0.001745	0.01167	T	-0.214699	0.18721	T	-0.546177	0.17695	T	0.0182863330978625	0.00547	T	0.726827	0.34112	T	0.056939475	0.11268	0.071558535	0.15336	0.056939475	0.11268	0.071558535	0.15336	-7.104	0.55237	T	.	.	0.131	0.35560	B	.;.	.;.	2.171628	0.27671	17.54	0.99663125085786775	0.78074	0.02072	0.06171	N	AEFBI	0.036161	0.04774	N	-0.595262529696858	0.19088	0.996275	-0.85090525598683	0.13266	0.6872205	1.13024900829832E-5	0.02871	0.475973	0.10046	0	0.601575	0.49859	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	0.578	0.578	0.16575	0.528000	0.22711	-1.180000	0.06099	0.291000	0.18778	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	.	.	.	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89248.4	328	chr2	95927277	.	C	T	89248.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-6.782;DP=6158;ExcessHet=48.2876;FS=4.127;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.73;MQRankSum=-16.01;QD=14.73;ReadPosRankSum=-1.494;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,100:309:99:0|1:95927222_G_GAT:3550,0,8317:95927222	0	0	19	0
chr2	95929092	95929092	T	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.A1817G:p.E606G	.	442	885	194	1	0	196	0.0996948	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	.	.	.	0.0459	0.0589	0.0223	0.0330	0.0459	0.0434	0.0437	0.0722	0.0179806	468	26028	rs76434426	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.12	0.48855	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	P	.	.	.	-1.41	0.80560	T	-0.78	0.21644	N	0.056	0.10626	-0.3240	0.74310	T	0.401	0.75223	T	5	0.0049548745	0.00106	T	.	.	.	0.197	0.47942	.	.	.	.	0.0054717690626164255	0.00517	.	.	.	.	.	0.005311	0.04761	T	-0.0584766	0.43144	T	-0.321774	0.42379	T	0.00563426744630397	0.00061	T	0.377662	0.09460	T	0.056738406	0.11204	0.0661094	0.13496	0.056738406	0.11203	0.0661094	0.13496	-3.88	0.22002	T	.	.	0.122	0.31279	B	.;.	.;.	2.425270	0.31191	18.67	0.9961510765788425	0.75052	0.01924	0.05874	N	AEFI	0.033909	0.04109	N	-0.600821869982756	0.18921	0.9861679	-0.827596025984616	0.13828	0.7194133	1.26041081260552E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	1.761000	0.38070	0.132000	0.15059	0.312000	0.19173	0.010000	0.18352	0.001000	0.17328	0.012000	0.09680	0.0:0.0:0.0:1.0	3.983	0.08994	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	39801.4	216	chr2	95929092	.	T	C	39801.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.974;DP=3809;ExcessHet=48.2876;FS=9.792;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=47.28;MQRankSum=-9.617;QD=10.54;ReadPosRankSum=-3.918;SOR=1.353	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,48:174:99:0|1:95929092_T_C:1617,0,5026:95929092	0	0	19	0
chr2	95929110	95929110	A	G	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.T1799C:p.I600T	.	444	879	199	0	0	199	0.101686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.230	.	.	.	0.0502	0.0563	0.0250	0.0339	0.0515	0.0474	0.0455	0.0855	0.0009221	24	26028	rs80159651	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.38185	T	0.013	0.63109	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.17	0.78199	T	-0.21	0.10308	N	0.064	0.13911	-0.7459	0.58149	T	0.297	0.66886	T	6	0.0053180456	0.00117	T	.	.	.	0.230	0.53062	.	.	.	.	0.00358464158390252	0.00335	.	.	.	.	.	5.76E-4	0.00232	T	-0.102964	0.35934	T	-0.385677	0.35058	T	0.00148509498065692	0.00015	T	0.430857	0.15541	T	0.03336381	0.03541	0.041758195	0.04819	0.03336381	0.03540	0.041758195	0.04819	-5.849	0.49914	T	.	.	0.141	0.47448	B	.;.	.;.	1.598186	0.20432	14.75	0.94716897870735495	0.25385	0.00401	0.02002	N	AEFI	0.028900	0.02629	N	-0.753193177697584	0.14546	0.7255317	-1.00196959350196	0.09742	0.4864572	9.46784315172941E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.637	0.10926	0.215000	0.17352	-1.249000	0.05911	0.351000	0.19951	0.001000	0.13787	0.000000	0.08366	0.003000	0.05239	0.4587:0.0:0.0:0.5413	2.815	0.05119	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	49331.4	246	chr2	95929110	.	A	G	49331.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=8.94;DP=4414;ExcessHet=48.2876;FS=9.734;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=45.28;MQRankSum=-9.563;QD=11.19;ReadPosRankSum=-2.139;SOR=1.456	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,62:205:99:0|1:95929092_T_C:2173,0,5787:95929092	0	0	19	0
chr2	95929126	95929126	C	A	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1783T:p.D595Y	.	442	865	215	0	0	215	0.11054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.242	.	.	.	0.0287	0.0327	0.0149	0.0205	0.0260	0.0277	0.0293	0.0461	0.0009221	24	26028	rs79434735	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.96	0.75553	T	-1.05	0.27463	N	0.094	0.37717	-0.7052	0.60188	T	0.302	0.67344	T	6	0.007255286	0.00165	T	.	.	.	0.242	0.54781	.	.	.	.	0.01955586045237903	0.01909	.	.	.	.	.	0.003986	0.03393	T	-0.0187037	0.49039	T	-0.264643	0.48358	T	0.00831936897839858	0.00100	T	0.876612	0.58915	D	0.08026257	0.18380	0.06422837	0.12840	0.08026257	0.18380	0.06422837	0.12840	-7.935	0.60626	D	.	.	0.193	0.50147	B	.;.	.;.	1.372804	0.17831	13.39	0.93504610952685097	0.23313	0.02178	0.06379	N	AEFI	0.025243	0.01698	N	-0.59865468081622	0.18985	0.9901359	-0.821302082525131	0.13979	0.7281023	1.38702267383256E-5	0.02871	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	0.871	0.18244	-0.066000	0.11556	0.673000	0.20610	0.284000	0.18682	0.001000	0.13787	0.001000	0.17328	0.010000	0.09038	0.0:1.0:0.0:0.0	5.051	0.13847	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	66098.4	287	chr2	95929126	.	C	A	66098.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=3.33;DP=5158;ExcessHet=48.2876;FS=18.99;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=44.08;MQRankSum=-9.946;QD=12.83;ReadPosRankSum=-1.47;SOR=1.817	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,73:232:99:0|1:95929092_T_C:2587,0,6446:95929092	0	0	19	0
chr2	95929130	95929130	G	C	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.C1779G:p.D593E	.	442	863	217	0	0	217	0.111683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	.	.	.	0.0281	0.0314	0.0152	0.0199	0.0259	0.0271	0.0289	0.0443	0.0009221	24	26028	rs375866621	5.512e-06	6.156e-06	6.857e-06	4.153e-06	7.204e-06	2.37e-06	1.71e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.204e-06	0	0	6.603e-06	6.573e-06	1.29e-05	0	1.478e-05	0	0	.	.	0	0	0	0	0	0	0	1.478e-05	0	0	1.0	0.00964	T	0.215	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-0.99	0.75911	T	-0.17	0.09627	N	0.012	0.01274	-0.9830	0.34305	T	0.120	0.41886	T	6	0.0062747	0.00142	T	.	.	.	0.082	0.23913	0.088	0.00943	.	.	0.0012585486106362017	0.00115	.	.	.	.	.	6.61E-4	0.00291	T	-0.22299	0.17588	T	-0.558086	0.16556	T	0.0056942431256175	0.00062	T	0.361264	0.08382	T	0.030476715	0.02717	0.028199261	0.01033	0.030476715	0.02717	0.028199261	0.01033	1.103	0.00153	T	.	.	0.184	0.39898	B	.;.	.;.	-0.102250	0.03628	0.719	0.82362292130898662	0.14152	0.00009	0.00143	N	AEFI	0.011962	0.00118	N	-1.12759496650573	0.06156	0.2826552	-1.32800364383948	0.04072	0.1913117	8.82048009805059E-6	0.01202	0.651	0.46895	0	0.546412	0.12157	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0539	0.13146	0.175000	0.16577	-0.796000	0.07394	-0.724000	0.03774	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5966:0.4034:0.0	4.774	0.12542	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	71010.4	295	chr2	95929130	.	G	C	71010.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.88;DP=5365;ExcessHet=48.2876;FS=20.95;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.69;MQRankSum=-9.89;QD=13.27;ReadPosRankSum=-1.093;SOR=1.897	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:162,78:240:99:0|1:95929092_T_C:2788,0,6568:95929092	0	0	19	0
chr2	95929135	95929135	C	T	exonic	ANKRD36C	.	nonsynonymous SNV	ANKRD36C:NM_001310154:exon26:c.G1774A:p.D592N	.	440	860	222	0	0	222	0.114315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0258	0.0286	0.0139	0.0184	0.0245	0.0251	0.0266	0.0399	0.0009221	24	26028	rs111462973	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.31	0.26306	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	-1.0	0.76037	T	-0.29	0.11728	N	0.04	0.12341	-0.9745	0.36235	T	0.178	0.52334	T	6	0.0032269955	0.00055	T	.	.	.	0.061	0.17616	.	.	.	.	0.004280505726367948	0.00402	.	.	.	.	.	0.002625	0.02014	T	-0.209791	0.19408	T	-0.539127	0.18382	T	0.0104211887073546	0.00143	T	0.69513	0.30474	T	0.054424945	0.10441	0.04548125	0.06130	0.054424945	0.10440	0.04548125	0.06129	-6.736	0.52081	T	.	.	0.134	0.35352	B	.;.	.;.	2.140902	0.27259	17.40	0.99632098778018607	0.76081	0.00615	0.02724	N	AEFI	0.027355	0.02221	N	-0.807133128301253	0.13128	0.6445496	-1.03707422889346	0.08978	0.4441984	8.83579175512005E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.565031	0.19037	0	0.683762	0.67416	0	.	.	0.871	-0.0868	0.13014	0.656000	0.24632	0.771000	0.21396	0.284000	0.18682	0.006000	0.17386	0.005000	0.19230	0.009000	0.08673	0.0:0.6672:0.0:0.3328	3.151	0.06100	253	0.90069	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	74075.4	304	chr2	95929135	.	C	T	74075.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=6.95;DP=5621;ExcessHet=48.2876;FS=22.763;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=43.18;MQRankSum=-9.69;QD=13.51;ReadPosRankSum=-1.078;SOR=1.932	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:161,82:243:99:0|1:95929092_T_C:2950,0,6493:95929092	0	0	19	0
chr2	96115824	96115824	T	C	exonic	ADRA2B	.	nonsynonymous SNV	ADRA2B:NM_000682:exon1:c.A326G:p.D109G	Epilepsy, myoclonic, familial adult, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.949	0.290049764217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	.	.	.	.	1	0.81001	D	4.095	0.97289	H	.	.	.	.	.	.	0.946	0.95374	0.861	0.95163	D	0.822	0.94019	D	9	0.98468006	0.98677	D	0.29005	0.90532	D	.	.	0.933	0.98990	0.810750342552	0.80897	0.9818756798931852	0.98179	.	.	0.911249995232	0.97587	D	0.762766	0.93586	D	0.50331	0.94381	D	0.485193	0.94302	D	0.984927415847778	0.76075	D	0.999138	0.99663	D	0.817508	0.85052	0.8241972	0.89809	0.817508	0.85054	0.8241972	0.89809	-11.285	0.81198	D	.	.	0.994	0.94980	P	.	.	5.489903	0.91472	32	0.99777439819834524	0.86433	0.91577	0.53820	D	AEFDGBCI	0.962376	0.98394	D	0.888191481883278	0.91168	10.74938	0.769358477230547	0.87597	9.27663	0.999999999942353	0.74766	0.676563	0.55306	0	0.588066	0.40923	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.48	4.48	0.53973	8.017000	0.88732	7.913000	0.74126	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	11.833	0.51581	295	0.88218	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1436.33	38	chr2	96115824	.	T	C	1436.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=1016;ExcessHet=0;FS=3.792;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.81;ReadPosRankSum=0.094;SOR=0.692	GT:AD:DP:GQ:PL	0/1:45,52:97:99:1450,0,1167	18	0	1	0
chr2	96619749	96619749	T	C	exonic	KANSL3	.	nonsynonymous SNV	KANSL3:NM_001115016:exon4:c.A400G:p.M134V,KANSL3:NM_001349256:exon4:c.A400G:p.M134V,KANSL3:NM_001349257:exon4:c.A400G:p.M134V,KANSL3:NM_001349258:exon4:c.A400G:p.M134V,KANSL3:NM_001349259:exon4:c.A139G:p.M47V	.	433	1088	1	0	0	1	0.000459348	.	.	.	2716059	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.060	0.00466739238787	.	.	8.363e-05	0	0	0	0	9.297e-05	0	0.0001	3.88e-05	6	154602	rs370590181	2.208e-05	2.257e-05	1.687e-05	2.742e-05	0.0011	1.582e-05	1.378e-05	0.0005	0.0003	0	0.0001	0	0	0	0.0011	1.479e-05	5.148e-05	2.514e-05	1.971e-05	1.97e-05	3.854e-05	0	6.542e-05	5.24e-06	2.45e-06	.	.	0	0	6.542e-05	0	0	0	0	1.47e-05	0.0005	0	0.589	0.05826	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.010893	0.29744	N	0.401640	1	0.81001	D	-0.83	0.01527	N	1.12	0.38718	T	-0.09	0.08340	N	0.145	0.14622	-0.9915	0.32218	T	0.032	0.13592	T	10	0.02164501	0.00522	T	0.004667	0.11597	T	0.060	0.17295	.	.	0.043077524339	0.03247	0.18248174036570855	0.18167	0.230142155962	0.25565	0.369675278664	0.20785	T	.	.	.	-0.42816	0.01521	T	-0.660463	0.08236	T	0.0134920640124277	0.00247	T	0.743426	0.36288	T	.	.	.	.	.	.	.	.	-0.586	0.00638	T	.	.	0.053	0.00259	B	.	.	0.280984	0.06578	3.068	0.77428874588156449	0.11872	0.33792	0.24913	N	AEFBI	0.116959	0.22933	N	-0.967343415335847	0.09307	0.439956	-0.807070427958418	0.14325	0.7478873	0.981082319076267	0.30215	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.59	0.307	0.15057	-0.213000	0.09309	-1.734000	0.04824	-0.121000	0.13915	0.001000	0.13787	0.000000	0.08366	0.998000	0.85391	0.0:0.3389:0.1459:0.5152	5.363	0.15402	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	34	chr2	96619749	.	T	C	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.683;DP=740;ExcessHet=0;FS=1.563;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.67;ReadPosRankSum=0.495;SOR=0.5	GT:AD:DP:GQ:PL	0/1:58,51:109:99:1286,0,1568	18	0	1	0
chr2	96842402	96842402	C	T	exonic	ANKRD23	.	nonsynonymous SNV	ANKRD23:NM_144994:exon2:c.G137A:p.R46Q	.	375	1121	24	2	0	28	0.0123348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.0136136329658	0.0044	0.00319489	0.0043	0.0018	0.0029	0.0016	0.0005	0.0052	0.0033	0.0064	0.0010673	165	154602	rs143372458	0.0053	0.0053	0.0052	0.0055	0.0336	0.0052	0.0052	0.0298	0.0283	0.0034	0.0040	0.0056	0.0012	0.0009	0.0336	0.0055	0.0061	0.0065	0.0047	0.0047	0.0049	0.0046	0.0071	0.0044	0.0043	0.0066	0.0064	0.0015	0.0351	0.0035	0.0058	0.0014	0.0005	0.0442	0.0071	0.0062	0.0052	0.298	0.14894	T	0.508	0.10893	T	0.003	0.11197	B	0.001	0.04355	B	0.866014	0.08859	N	0.907894	0.999879	0.19925	N	1.525	0.38595	L	-0.29	0.67712	T	0.28	0.05503	N	0.113	0.21449	-1.0743	0.08493	T	0.079	0.31466	T	10	0.004486352	0.00092	T	0.013614	0.33144	T	0.033	0.08068	.	.	0.384252928164	0.38032	0.11811522296144829	0.11738	0.174969425487	0.19695	0.191902413964	0.00260	T	0.011947	0.10582	T	-0.598926	0.00148	T	-0.630342	0.10389	T	0.00180462947194861	0.00018	T	0.49795	0.15494	T	0.025929948	0.01587	0.0338767	0.02356	0.025929948	0.01586	0.0338767	0.02356	-2.884	0.12776	T	.	.	0.093	0.15115	B	.;.;.	.;.;.	-0.280197	0.02706	0.354	0.82545391951555647	0.14248	0.03294	0.08346	N	AEFBCI	0.036542	0.04886	N	-1.64690095529547	0.01048	0.04547421	-1.63492810835428	0.01456	0.0658473	0.999567174860757	0.40425	0.660377	0.49826	0	0.694456	0.67091	0	0.696353	0.63694	0	0.655142	0.61905	0	.	.	5.07	-6.83	0.01532	-1.346000	0.02741	-3.498000	0.02741	-1.699000	0.00759	0.090000	0.22578	0.000000	0.08366	0.103000	0.18424	0.2379:0.1705:0.0:0.5916	6.77	0.22775	120	0.95183	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.023666	0.015152	0.027174	0.043860	0.000000	0.034483	0.009146	0.015152	0.02632	1279.33	42	chr2	96842402	.	C	T	1279.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.09;DP=854;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.268;SOR=0.804	GT:AD:DP:GQ:PL	0/1:52,50:102:99:1293,0,1349	18	0	1	0
chr2	97513220	97513220	G	A	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2765T:p.A922V	.	613	640	247	22	0	291	0.185232	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0963	0.0850	0.0216	0.0100	0.3296	0.0294	0.1310	0.0097	0.0001921	5	26028	rs80135902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	.	.	.	0	0.06538	N	.	.	.	.	.	.	0.031	0.15888	.	.	.	.	.	.	.	0.0024380386	0.00036	T	.	.	.	.	.	.	.	.	.	0.0030564260149934064	0.00284	.	.	0.613379478455	0.54794	T	0.007581	0.06977	T	-0.0927998	0.37613	T	-0.371077	0.36763	T	.	.	.	0.352565	0.07917	T	0.017845605	0.00308	0.067346	0.13920	0.017845605	0.00308	0.067346	0.13919	-1.943	0.02973	T	.	.	0.108	0.23709	B	.;.;.	.;.;.	0.756607	0.11265	7.891	0.24358559582250291	0.01073	0.00023	0.00238	N	AEFI	.	.	.	.	.	.	.	.	.	1.16123222590643E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.0495094	0.09020	1.25	-0.477	0.11493	0.374000	0.20232	-0.021000	0.12925	-0.716000	0.03877	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.7908:0.0:0.2092:0.0	4.611	0.11791	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.242358	0.041667	0.256579	0.288889	0.375000	0.340426	0.247788	0.262376	0.5263	64897.0	159	chr2	97513220	.	G	A	64897.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.096;DP=3961;ExcessHet=38.2876;FS=4.24;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.14;MQRankSum=-3.677;QD=16.4;ReadPosRankSum=0.819;SOR=1.012	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:133,59:192:99:0|1:97513219_T_C:2077,0,5407:97513219	0	1	18	0
chr2	97513227	97513227	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2758G:p.K920E	.	611	640	249	22	0	293	0.186268	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0214	0.0529	0.0036	0	0.0702	0.0066	0.0682	0.0028	3.84e-05	1	26028	rs79390266	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05707	T	0.544	0.37968	P	0.044	0.24394	B	.	.	.	.	.	.	.	1.445	0.36358	L	.	.	.	.	.	.	0.12	0.33250	.	.	.	.	.	.	.	0.0055945516	0.00124	T	.	.	.	.	.	.	.	0.168933306366	0.16529	0.003989330973675759	0.00373	.	.	0.735671639442	0.72336	T	0.033889	0.23100	T	-0.112291	0.34391	T	-0.399074	0.33492	T	.	.	.	0.369363	0.08678	T	0.05957855	0.12126	0.07929396	0.17837	0.05957855	0.12126	0.07929396	0.17837	-5.258	0.39526	T	.	.	0.142	0.33086	B	.;.;.	.;.;.	1.364301	0.17734	13.34	0.46228864402172176	0.03687	0.02246	0.06510	N	AEFI	.	.	.	.	.	.	.	.	.	4.68263816856013E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.223356	0.04673	0	0.103977	0.22772	1.25	1.25	0.20475	-0.034000	0.12176	-6.769000	0.01311	0.334000	0.19664	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.0:0.0:1.0	6.615	0.21965	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.049467	0.010417	0.061189	0.058140	0.000000	0.104651	0.038462	0.040000	0.5263	68935.0	164	chr2	97513227	.	T	C	68935.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=0.29;DP=4239;ExcessHet=38.2876;FS=3.338;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.44;MQRankSum=-4.04;QD=16.5;ReadPosRankSum=0.983;SOR=0.999	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,63:202:99:0|1:97513219_T_C:2227,0,5639:97513219	0	1	18	0
chr2	97513244	97513244	G	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.C2741A:p.P914Q	.	595	624	272	31	0	334	0.211125	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023	0.0143	0	0	0	0.0016	0	0	3.84e-05	1	26028	rs79527710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.569	0.10391	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	.	.	.	-1.445	0.00556	N	.	.	.	.	.	.	0.188	0.27435	.	.	.	.	.	.	.	0.0063654184	0.00144	T	.	.	.	.	.	.	.	0.320256813643	0.31633	0.004245720093313631	0.00398	.	.	0.703683018684	0.67677	T	0.006209	0.05647	T	-0.125373	0.32247	T	-0.417866	0.31321	T	.	.	.	0.315568	0.06252	T	0.023773897	0.01146	0.07268516	0.15708	0.023773897	0.01146	0.07268516	0.15708	0.674	0.00180	T	.	.	0.102	0.17827	B	.;.;.	.;.;.	-0.119120	0.03530	0.672	0.19522481671669692	0.00662	0.00471	0.02257	N	AEFI	.	.	.	.	.	.	.	.	.	1.11447686844719E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0495094	0.09020	1.25	-0.0318	0.13235	0.839000	0.27239	1.716000	0.28228	-0.610000	0.04588	0.997000	0.40164	0.949000	0.28973	0.001000	0.02609	0.2806:0.0:0.2874:0.432	2.311	0.03930	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5263	84738.0	186	chr2	97513244	.	G	T	84738.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.875;DP=4777;ExcessHet=38.2876;FS=3.221;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.9;MQRankSum=-3.997;QD=17.8;ReadPosRankSum=0.056;SOR=0.933	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,74:227:99:0|1:97513244_G_T:2647,0,6071:97513244	0	1	18	0
chr2	97513253	97513253	A	G	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.T2732C:p.V911A	.	594	617	279	32	0	343	0.217502	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0010	0.0083	0	0	0	0.0008	0	0	3.84e-05	1	26028	rs80295552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.424	0.23914	T	0.008	0.14655	B	0.002	0.06944	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.109	0.12627	.	.	.	.	.	.	.	0.00813821	0.00185	T	.	.	.	.	.	.	.	0.216624796971	0.21254	0.003043674037080383	0.00283	.	.	0.697517633438	0.66786	T	0.028597	0.20678	T	-0.148518	0.28543	T	-0.451112	0.27575	T	.	.	.	0.321068	0.06505	T	0.015220522	0.00128	0.050442122	0.07918	0.015220522	0.00128	0.050442122	0.07917	-2.994	0.10116	T	.	.	0.23	0.46273	B	.;.;.	.;.;.	0.168625	0.05582	2.036	0.46468697738120324	0.03724	0.00493	0.02333	N	AEFI	.	.	.	.	.	.	.	.	.	1.09581247054722E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	0.037	0.13512	-0.176000	0.09802	-1.469000	0.05369	-0.632000	0.04510	0.008000	0.17931	0.000000	0.08366	0.002000	0.04165	0.5217:0.0:0.4783:0.0	4.080	0.09400	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000639	0.000000	0.002857	0.004630	0.000000	0.000000	0.000000	0.000000	0.5263	90004.0	197	chr2	97513253	.	A	G	90004.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.442;DP=4968;ExcessHet=38.2876;FS=3.203;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.26;ReadPosRankSum=-0.22;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,79:234:99:0|1:97513244_G_T:2815,0,6248:97513244	0	1	18	0
chr2	97513254	97513254	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2731A:p.V911M	.	594	616	280	32	0	344	0.218274	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0076	0	0	0	0.0011	0	0	7.68e-05	2	26028	rs74341509	0.0001	0.0001	0.0001	0.0002	0.0002	0.0001	0.0001	0.0002	0.0001	0	0	0	0	0	0	0.0002	0.0002	0	8.256e-05	9.122e-05	7.317e-05	9.244e-05	0.0002	4.621e-05	3.529e-05	9.276e-05	7.178e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.098	0.39040	T	0.053	0.22573	B	0.004	0.10090	B	.	.	.	.	.	.	.	0.345	0.11182	N	.	.	.	.	.	.	0.115	0.14480	.	.	.	.	.	.	.	0.008039981	0.00183	T	.	.	.	.	.	.	.	0.201204373187	0.19734	0.004376723944163083	0.00411	.	.	0.681571960449	0.64493	T	0.010384	0.09385	T	-0.177895	0.24050	T	-0.493311	0.23044	T	.	.	.	0.538946	0.18179	T	0.01859633	0.00382	0.05722728	0.10366	0.01859633	0.00382	0.05722728	0.10366	-3.253	0.13139	T	.	.	0.167	0.37746	B	.;.;.	.;.;.	0.527632	0.08965	5.745	0.40177876468154022	0.02819	0.00378	0.01916	N	AEFI	.	.	.	.	.	.	.	.	.	1.15642168101809E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.183335	0.04453	0	0.347871	0.05795	0	0.0502799	0.09584	1.25	-0.662	0.10840	-0.590000	0.05854	-9.274000	0.00843	0.304000	0.19002	0.004000	0.16614	0.000000	0.08366	0.002000	0.04165	0.0:0.6788:0.0:0.3212	5.565	0.16451	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006345	0.000000	0.005682	0.000000	0.000000	0.000000	0.008264	0.008696	0.5263	90016.0	197	chr2	97513254	.	C	T	90016.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-2.225;DP=4978;ExcessHet=38.2876;FS=3.233;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=36.95;MQRankSum=-3.978;QD=18.28;ReadPosRankSum=-0.275;SOR=0.922	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:155,79:234:99:0|1:97513244_G_T:2815,0,6248:97513244	0	1	18	0
chr2	97513268	97513268	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2717A:p.R906K	.	591	591	298	42	0	382	0.244246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2502	0.2966	0.2791	0.2632	0.3769	0.2470	0.2431	0.1747	0.0004995	13	26028	rs144131603	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.274	0.27235	T	0.119	0.26641	B	0.008	0.13708	B	.	.	.	.	.	.	.	1.495	0.37439	L	.	.	.	.	.	.	0.042	0.16028	.	.	.	.	.	.	.	0.002357304	0.00035	T	.	.	.	.	.	.	.	.	.	0.005747616653950952	0.00544	.	.	0.613570392132	0.54820	T	0.017136	0.14032	T	-0.187866	0.22573	T	-0.507633	0.21559	T	.	.	.	0.572743	0.20478	T	0.03131732	0.02950	0.0672792	0.13896	0.03131732	0.02950	0.0672792	0.13896	-3.791	0.20670	T	.	.	0.137	0.29968	B	.;.;.	.;.;.	-1.310648	0.00429	0.009	0.36842002943516644	0.02393	0.00779	0.03201	N	AEFI	.	.	.	.	.	.	.	.	.	1.25854079706441E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	0.308	0.15062	-1.265000	0.02953	-5.898000	0.01560	-1.898000	0.00526	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7823:0.0:0.2177	5.370	0.15434	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.308701	0.315385	0.320055	0.309735	0.250000	0.263158	0.341912	0.338843	0.5263	97631.0	207	chr2	97513268	.	C	T	97631.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.519;DP=5204;ExcessHet=38.2876;FS=2.457;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.34;MQRankSum=-4.276;QD=18.86;ReadPosRankSum=0.097;SOR=0.904	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,86:242:99:0|1:97513268_C_T:3142,0,6271:97513268	0	1	18	0
chr2	97513270	97513270	A	C	exonic	ANKRD36B	.	stopgain	ANKRD36B:NM_025190:exon38:c.T2715G:p.Y905X	.	591	592	298	41	0	380	0.242967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2438	0.2932	0.2713	0.2615	0.3746	0.2394	0.2372	0.1697	0.0005763	15	26028	rs879468063	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13	0.16586	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.361473	0.04047	T	-0.757008	0.03221	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	3.385426	0.46848	22.4	0.44838944251633817	0.03476	0.03038	0.07927	N	AEFI	.	.	.	.	.	.	.	.	.	1.13426159498125E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.166916	0.28634	1.25	0.017	0.13431	-0.091000	0.11111	-1.488000	0.05326	0.375000	0.20354	0.013000	0.18845	0.000000	0.08366	0.003000	0.05239	0.7855:0.0:0.2145:0.0	4.462	0.11093	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.323424	0.318182	0.331044	0.327434	0.333333	0.307018	0.349265	0.347107	0.5263	95844.0	211	chr2	97513270	.	A	C	95844.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.821;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.42;MQRankSum=-4.193;QD=18.3;ReadPosRankSum=-0.308;SOR=0.89	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,88:245:99:0|1:97513268_C_T:3182,0,6292:97513268	0	1	18	0
chr2	97513271	97513271	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2714G:p.Y905C	.	591	590	299	42	0	383	0.245042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2908	0.3387	0.3276	0.3085	0.4114	0.2887	0.2821	0.2034	0.0006531	17	26028	rs146893214	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.56640	T	0.022	0.18677	B	0.002	0.06944	B	.	.	.	.	.	.	.	1.14	0.29013	L	.	.	.	.	.	.	0.149	0.51315	.	.	.	.	.	.	.	0.0020657778	0.00029	T	.	.	.	.	.	.	.	.	.	0.004479552258500605	0.00420	.	.	0.829705476761	0.86516	D	0.127676	0.45486	T	0.00706366	0.52624	T	-0.22763	0.52001	T	.	.	.	0.424058	0.11326	T	0.08367851	0.19332	0.12435671	0.29977	0.08367851	0.19332	0.12435671	0.29976	-3.342	0.14285	T	.	.	0.228	0.46049	B	.;.;.	.;.;.	2.163208	0.27562	17.50	0.45197924751744767	0.03530	0.10868	0.16248	N	AEFI	.	.	.	.	.	.	.	.	.	1.47313282737101E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.0933222	0.21027	1.25	1.25	0.20475	2.350000	0.43718	-0.293000	0.10176	0.334000	0.19664	0.983000	0.35670	0.000000	0.08366	0.004000	0.06068	0.0:0.2551:0.0:0.7449	3.086	0.05898	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.421021	0.365672	0.435440	0.398230	0.416667	0.385965	0.470588	0.438017	0.5263	98710.0	209	chr2	97513271	.	T	C	98710.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.177;DP=5239;ExcessHet=38.2876;FS=2.439;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.46;MQRankSum=-4.272;QD=18.84;ReadPosRankSum=-0.525;SOR=0.894	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:157,88:245:99:0|1:97513268_C_T:3182,0,6292:97513268	0	1	18	0
chr2	97513281	97513281	C	T	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.G2704A:p.E902K	.	587	587	303	45	0	393	0.250798	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4801	0.5496	0.4874	0.4823	0.5076	0.4642	0.4639	0.4735	0.0017529	271	154602	rs5011473	3.077e-05	0.0002	3.34e-05	2.81e-05	0.0001	2.332e-05	2.077e-05	3.145e-05	1.671e-05	0.0001	0	0	0	0.0007	0	2.729e-06	0	0	0	9.135e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.094	0.41573	T	0.98	0.59353	D	0.855	0.60933	P	.	.	.	.	.	.	.	1.765	0.45800	L	.	.	.	.	.	.	0.208	0.65758	.	.	.	.	.	.	.	0.002158165	0.00031	T	.	.	.	.	.	.	.	.	.	0.03228563945784759	0.03176	.	.	0.789947628975	0.80434	T	0.190084	0.54451	T	0.0749938	0.61451	D	-0.130053	0.60967	T	.	.	.	0.733627	0.34942	T	0.02507305	0.01405	0.09507035	0.22531	0.02507305	0.01404	0.09507035	0.22530	-6.657	0.51486	T	.	.	0.139	0.30476	B	.;.;.	.;.;.	2.117809	0.26958	17.30	0.4037492673049709	0.02845	0.56632	0.30167	D	AEFI	.	.	.	.	.	.	.	.	.	1.05171682619281E-5	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.347871	0.05795	0	0.167599	0.28683	1.4	1.4	0.21393	3.749000	0.54867	0.048000	0.13961	-0.659000	0.04360	1.000000	0.71638	0.001000	0.17328	0.002000	0.04165	0.0:1.0:0.0:0.0	8.752	0.33786	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.529548	0.601351	0.515110	0.508696	0.416667	0.517241	0.552448	0.516393	0.5263	99301.0	210	chr2	97513281	.	C	T	99301.0	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-0.601;DP=5349;ExcessHet=38.2876;FS=2.432;InbreedingCoeff=-0.9;MLEAC=20;MLEAF=0.526;MQ=37.86;MQRankSum=-4.794;QD=18.72;ReadPosRankSum=-0.367;SOR=0.843	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,90:246:99:0|1:97513268_C_T:3234,0,6215:97513268	0	1	18	0
chr2	97513354	97513354	T	C	exonic	ANKRD36B	.	nonsynonymous SNV	ANKRD36B:NM_025190:exon38:c.A2631G:p.I877M	.	663	628	207	24	0	255	0.168762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4962	0.4838	0.4975	0.4959	0.5008	0.4970	0.4959	0.4971	0.0692716	1803	26028	rs879259208	1.426e-06	2.057e-06	1.417e-06	1.436e-06	9.218e-07	2.4e-07	9e-08	.	.	0	0	0	0	0	0	9.218e-07	1.742e-05	0	3.782e-05	4.181e-05	5.896e-05	1.554e-05	0.0004	1.406e-05	9.03e-06	0.0001	9.02e-05	0	0	0.0004	0	0	0	0	0	0	0	.	.	.	0.093	0.39799	T	0.563	0.38396	P	0.061	0.26820	B	.	.	.	.	.	.	.	0.69	0.16971	N	.	.	.	.	.	.	0.086	0.34120	.	.	.	.	.	.	.	0.00250566	0.00038	T	.	.	.	.	.	.	.	.	.	0.005410322706841144	0.00512	.	.	0.634645044804	0.57804	T	0.046049	0.27308	T	-0.0562864	0.43486	T	-0.318628	0.42725	T	.	.	.	0.682432	0.29103	T	0.06877274	0.15009	0.14055093	0.33500	0.06877274	0.15009	0.14055093	0.33499	-5.398	0.40900	T	.	.	0.175	0.41387	B	.;.;.	.;.;.	2.260359	0.28881	17.94	0.78590890435183058	0.12367	0.19138	0.20543	N	AEFI	.	.	.	.	.	.	.	.	.	1.43761767599795E-6	0.01202	0.294411	0.05044	0	0.332522	0.05826	0	0.078618	0.02440	0	0.223356	0.04673	0	0.0910582	0.20564	1.4	1.4	0.21393	0.366000	0.20099	-0.250000	0.10515	0.334000	0.19664	0.995000	0.38783	0.000000	0.08366	0.026000	0.12556	0.3508:0.0:0.0:0.6492	3.561	0.07435	243	0.90483	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.493015	0.474026	0.484848	0.500000	0.500000	0.517241	0.503597	0.495868	0.5	23586.3	111	chr2	97513354	.	T	C	23586.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.38;DP=3107;ExcessHet=48.2876;FS=1.966;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=39.22;MQRankSum=-3.517;QD=7.83;ReadPosRankSum=0.701;SOR=0.53	GT:AD:DP:GQ:PL	0/1:96,43:139:99:767,0,2424	0	0	19	0
chr2	100298868	100298868	G	T	exonic	LONRF2	.	nonsynonymous SNV	LONRF2:NM_198461:exon7:c.C1444A:p.H482N,LONRF2:NM_001371783:exon8:c.C715A:p.H239N	.	425	1092	5	0	0	5	0.00228415	.	.	.	2812172	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.049	.	0.0074	0.00319489	0.0074	0.0024	0.0027	0	0.0219	0.0102	0.0033	0.0008	0.0074708	1155	154602	rs116702638	0.0094	0.0094	0.0097	0.0091	0.0107	0.0093	0.0092	0.0105	0.0105	0.0013	0.0038	0.0054	0	0.0193	0.0024	0.0107	0.0067	0.0010	0.0070	0.0070	0.0069	0.0072	0.0098	0.0067	0.0065	0.0091	0.0089	0.0019	0	0.0042	0.0049	0	0.0210	0	0.0098	0.0076	0.0010	0.166	0.23183	T	0.517	0.10572	T	0.003	0.11197	B	0.016	0.17743	B	0.002062	0.37317	N	0.258855	0.715228	0.34796	D	-0.425	0.02884	N	1.05	0.39990	T	-2.17	0.49018	N	0.211	0.23506	-1.0678	0.09903	T	0.019	0.08173	T	10	0.00684464	0.00156	T	.	.	.	0.049	0.13647	.	.	0.295226631146	0.29124	0.32937313727823714	0.32850	0.389715505407	0.40204	0.481564313173	0.36272	T	0.022653	0.17425	T	-0.636122	0.00088	T	-0.675491	0.07261	T	0.0163635422777987	0.00405	T	0.652235	0.26282	T	0.08047845	0.18442	0.09920867	0.23679	0.08047845	0.18442	0.09920867	0.23678	-8.521	0.64568	D	.	.	0.141	0.31023	B	.;.	.;.	0.916531	0.12909	9.421	0.75059455686708343	0.10929	0.57950	0.30511	D	AEFDGBI	0.096426	0.19465	N	-0.818687413691486	0.12834	0.6281359	-0.70805924372528	0.16760	0.8881217	0.999783068285757	0.43007	0.554377	0.28877	0	0.563428	0.19063	0	0.602189	0.34648	0	0.530356	0.10902	0	.	.	4.09	2.09	0.26154	1.117000	0.30848	1.121000	0.24244	-0.106000	0.15538	0.911000	0.31706	0.002000	0.18203	0.037000	0.13953	0.0:0.1467:0.5877:0.2655	8.965	0.35031	615	0.66512	Zinc finger, RING-type|Zinc finger, RING-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.004028	0.000000	0.005435	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1403.33	33	chr2	100298868	.	G	T	1403.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.31;DP=748;ExcessHet=0;FS=5.593;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.88;SOR=0.372	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1417,0,1484	18	0	1	0
chr2	102235010	102235010	G	A	exonic	IL1RL2	.	nonsynonymous SNV	IL1RL2:NM_001351448:exon8:c.G985A:p.A329T,IL1RL2:NM_001351447:exon9:c.G1057A:p.A353T,IL1RL2:NM_001351449:exon10:c.G958A:p.A320T,IL1RL2:NM_001351450:exon10:c.G958A:p.A320T,IL1RL2:NM_001351446:exon11:c.G1411A:p.A471T,IL1RL2:NM_003854:exon11:c.G1411A:p.A471T	.	435	1020	65	2	0	69	0.0327169	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	.	0.0036	0.028754	0.0169	0.0013	0.0072	0.0765	0.0009	0.0045	0.0176	0.0584	0.015679	2424	154602	rs75091099	0.0098	0.0098	0.0082	0.0114	0.0652	0.0097	0.0096	0.0631	0.0622	0.0012	0.0067	0.0070	0.0652	0.0007	0.0290	0.0049	0.0116	0.0564	0.0083	0.0083	0.0072	0.0095	0.0707	0.0079	0.0078	0.0647	0.0624	0.0012	0	0.0078	0.0075	0.0707	0.0008	0.0170	0.0057	0.0090	0.0589	0.064	0.44694	T	0.05	0.48855	T	0.964	0.55854	D	0.595	0.50587	P	0.048647	0.23232	N	0.467616	0.57825	0.31234	N	1.39	0.34934	L	2.75	0.11622	T	-2.78	0.59226	D	0.074	0.04790	-1.0976	0.04394	T	0.004	0.01435	T	10	0.0024054945	0.00036	T	.	.	.	0.107	0.30369	.	.	.	.	0.4263791408708797	0.42554	0.220987285755	0.24648	0.283961176872	0.08051	T	0.275429	0.64797	T	-0.632716	0.00092	T	-0.625743	0.10740	T	0.0200631921484089	0.00707	T	0.762324	0.44094	T	0.12541069	0.29400	0.2107837	0.45480	0.12541069	0.29400	0.2107837	0.45479	-9.969	0.76438	D	.	.	0.130	0.34514	B	.;.	.;.	2.545631	0.32935	19.19	0.9987192860215679	0.94989	0.66926	0.33249	D	AEFDBHCI	0.163854	0.29018	N	0.145910387066087	0.48618	3.071912	0.0593109593633821	0.42523	2.573534	0.999999324635554	0.74766	0.55562	0.30534	0	0.61073	0.52368	0	0.615948	0.41167	0	0.665031	0.64506	0	.	.	5.43	3.4	0.38031	3.280000	0.51382	3.752000	0.39687	0.618000	0.50648	0.838000	0.30254	1.000000	0.68203	0.301000	0.24523	0.1128:0.0:0.8872:0.0	12.428	0.54891	818	0.41518	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.024673	0.010101	0.021739	0.049708	0.000000	0.025862	0.012195	0.049242	0.05263	4105.83	39	chr2	102235010	.	G	A	4105.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.8;DP=937;ExcessHet=0.119;FS=0.905;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.73;ReadPosRankSum=2.23;SOR=0.617	GT:AD:DP:GQ:PL	0/1:54,74:128:99:2204,0,1265	17	0	2	0
chr2	107863009	107863009	C	T	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.C2446T:p.R816C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00749810394954	.	.	0.0030	0.0056	0.0018	0.0013	0.0026	0.0026	0.0038	0.0054	3.84e-05	1	26028	rs766011043	3.09e-05	3.763e-05	2.937e-05	3.244e-05	3.214e-05	2.342e-05	2.086e-05	2.333e-05	2.065e-05	0	0	0	0	0.0001	0	3.214e-05	3.419e-05	1.224e-05	6.997e-05	0.0001	5.975e-05	8.106e-05	9.111e-05	3.585e-05	2.677e-05	2.414e-05	1.326e-05	9.111e-05	0	0	0	0	0.0003	0	6.529e-05	0	0	1.0	0.00964	T	0.208	0.26883	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.921769	0.27276	N	-2.425	0.00069	N	2.14	0.19450	T	7.05	0.00003	N	0.39	0.43126	-0.9890	0.32853	T	0.012	0.04747	T	9	0.008809537	0.00200	T	0.007498	0.19899	T	0.099	0.28413	0.351	0.34922	0.0401082797425	0.02173	0.05841745805818003	0.05782	.	.	0.681491017342	0.64482	T	0.019668	0.15628	T	-0.261368	0.12740	T	-0.613214	0.11725	T	0.0050751572938049	0.00055	T	0.779322	0.41328	T	0.046607945	0.07831	0.06377719	0.12685	0.046607945	0.07830	0.06377719	0.12684	5.38	0.00002	T	.	.	0.059	0.00780	B	.	.	3.543328	0.49775	22.8	0.082087098339994405	0.00060	0.02150	0.06324	N	AEFI	0.042708	0.06661	N	-1.15873268568843	0.05638	0.2575266	-0.973235833793755	0.10389	0.5229182	1.09470275652647E-5	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	5.109000	0.64456	6.234000	0.55243	-0.679000	0.04243	1.000000	0.71638	1.000000	0.68203	0.381000	0.26357	0.0:0.1351:0.0:0.8649	6.362	0.20640	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000626	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.004310	0.02632	1472.33	73	chr2	107863009	.	C	T	1472.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.25;DP=1638;ExcessHet=0;FS=8.009;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=40.1;MQRankSum=-0.673;QD=18.18;ReadPosRankSum=-1.127;SOR=1.571	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,39:81:99:0|1:107863009_C_T:1486,0,1628:107863009	18	0	1	0
chr2	107863015	107863015	G	C	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.G2452C:p.E818Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00254934695365	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1185166956	2.103e-05	2.532e-05	2.095e-05	2.112e-05	2.11e-05	1.492e-05	1.295e-05	1.405e-05	1.174e-05	0	0	0	0	9.527e-05	0	2.11e-05	3.411e-05	0	3.939e-05	4.668e-05	3.026e-05	4.93e-05	4.95e-05	1.452e-05	9.36e-06	1.314e-05	6.64e-06	0	0	0	0	0	0.0003	0	4.95e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999546	0.21009	N	-1.485	0.00523	N	2.09	0.20122	T	1.71	0.00570	N	0.187	0.20395	-0.9565	0.39825	T	0.010	0.03582	T	9	0.03294137	0.01457	T	0.002549	0.05121	T	0.049	0.13647	0.225	0.14960	0.0138822411134	0.00435	0.07698888234091501	0.07634	.	.	0.682731330395	0.64661	T	0.006837	0.06266	T	-0.305926	0.08113	T	-0.677218	0.07155	T	0.020782433699347	0.00778	T	0.378962	0.09121	T	0.046814393	0.07898	0.037605986	0.03450	0.046814393	0.07897	0.037605986	0.03450	-7.209	0.55546	T	.	.	0.171	0.37615	B	.	.	2.369636	0.30405	18.43	0.092779009446700006	0.00091	0.04028	0.09464	N	AEFI	0.037112	0.05053	N	-1.51398607041552	0.01757	0.07695381	-1.29925080203735	0.04441	0.2094958	2.38726055354434E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	2.323000	0.43482	4.963000	0.46353	-0.790000	0.03253	1.000000	0.71638	1.000000	0.68203	0.200000	0.21896	0.2226:0.56:0.2174:0.0	5.746	0.17390	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1402.33	73	chr2	107863015	.	G	C	1402.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.67;DP=1632;ExcessHet=0;FS=8.108;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.51;MQRankSum=-0.647;QD=18.21;ReadPosRankSum=-0.807;SOR=1.587	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,37:77:99:0|1:107863009_C_T:1416,0,1568:107863009	18	0	1	0
chr2	107863021	107863021	A	G	exonic	RGPD4	.	nonsynonymous SNV	RGPD4:NM_182588:exon17:c.A2458G:p.K820E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.00185178221873	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1425230152	2.042e-05	2.942e-05	2.104e-05	1.979e-05	2.027e-05	1.433e-05	1.239e-05	1.327e-05	1.133e-05	0	0	0	0	9.547e-05	0	2.027e-05	3.427e-05	0	3.978e-05	4.659e-05	3.057e-05	4.977e-05	5.002e-05	1.563e-05	9.45e-06	1.328e-05	6.68e-06	0	0	0	0	0	0.0003	0	5.002e-05	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.996059	0.23127	N	-2.455	0.00064	N	2.1	0.19990	T	1.97	0.00421	N	0.296	0.33469	-0.9618	0.38839	T	0.010	0.03627	T	9	0.044572175	0.03428	T	0.001852	0.03219	T	0.118	0.32913	0.274	0.22528	0.0297737177859	0.01360	0.037541671494561835	0.03700	.	.	0.653557062149	0.60491	T	0.006787	0.06218	T	-0.250449	0.14043	T	-0.597529	0.13019	T	0.0781928848828909	0.09754	T	0.654235	0.26451	T	0.065219015	0.13917	0.09678615	0.23011	0.065219015	0.13917	0.09678615	0.23010	-2.853	0.08682	T	.	.	0.082	0.08899	B	.	.	2.731569	0.35759	19.98	0.13604876327655771	0.00274	0.02951	0.07781	N	AEFI	0.021647	0.00987	N	-1.30102668987557	0.03664	0.1640726	-1.08624337370419	0.07970	0.3898958	4.30747365962144E-5	0.03989	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.3	2.3	0.27735	6.686000	0.74378	9.984000	0.82942	-0.731000	0.03728	1.000000	0.71638	1.000000	0.68203	0.172000	0.21044	0.1351:0.0:0.8649:0.0	7.990	0.29394	963	0.08280	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1293.33	73	chr2	107863021	.	A	G	1293.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.35;DP=1629;ExcessHet=0;FS=4.893;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=39.18;MQRankSum=-0.457;QD=17.48;ReadPosRankSum=-0.549;SOR=1.417	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,34:74:99:0|1:107863009_C_T:1307,0,1577:107863009	18	0	1	0
chr2	108767711	108767711	C	G	exonic	RANBP2	.	nonsynonymous SNV	RANBP2:NM_006267:exon20:c.C7172G:p.T2391S	.	129	1390	3	0	0	3	0.00107797	.	.	.	448727	Familial_acute_necrotizing_encephalopathy|not_provided	MONDO:MONDO:0011953,MedGen:C2675556,OMIM:608033,Orphanet:88619|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.170	0.0122518310145	.	.	4.226e-05	0	0.0002	0	0	4.622e-05	0	0	0.0034962	91	26028	rs2433786	0.0040	0.0086	0.0041	0.0039	0.0046	0.0039	0.0039	0.0045	0.0045	0.0009	0.0024	0.0010	0.0001	0.0033	0.0022	0.0046	0.0042	0.0008	0.0051	0.0055	0.0056	0.0046	0.0088	0.0048	0.0047	0.0082	0.0080	0.0018	0	0.0040	0.0009	0.0004	0.0032	0	0.0088	0.0033	0.0012	0.499	0.07772	T	0.161	0.31326	T	0.268	0.31720	B	0.28	0.40294	B	.	.	.	.	0.997912	0.22840	N	0	0.06538	N	0.9	0.45248	T	-0.9	0.24244	N	0.239	0.26957	-1.0151	0.25304	T	0.055	0.23224	T	9	0.021814346	0.00530	T	0.012252	0.30654	T	0.170	0.43303	0.473	0.54859	0.604599270341	0.60143	0.09958770073658234	0.09889	0.363966548102	0.38019	0.43197453022	0.29478	T	0.114465	0.43230	T	-0.495801	0.00604	T	-0.481235	0.24315	T	0.0250890230857195	0.01285	T	0.0423958	0.00299	T	0.056074448	0.10984	0.061345	0.11832	0.056074448	0.10984	0.061345	0.11831	-4.949	0.36281	T	0.11030140206905947	0.09307	0.095	0.15115	B	.	.	3.388128	0.46898	22.4	0.96315430158120496	0.29397	0.89888	0.50651	D	AEFDBI	0.335022	0.43359	N	-0.192695834077233	0.33436	1.89704	0.0102674842455193	0.40192	2.394654	0.999997239845877	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.644132	0.48003	0	0.727631	0.95156	0	.	.	5.47	4.54	0.55220	3.217000	0.50886	3.334000	0.37651	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.3071:0.573:0.1199:0.0	8.691	0.33426	850	0.35610	Ran binding domain|Ran binding domain|Ran binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	612.33	40	chr2	108767711	.	C	G	612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.65;DP=934;ExcessHet=0;FS=4.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.66;MQRankSum=-11.44;QD=2.31;ReadPosRankSum=1.54;SOR=1.039	GT:AD:DP:GQ:PL	0/1:215,50:265:99:626,0,6016	18	0	1	0
chr2	127627281	127627281	C	A	exonic	MYO7B	.	nonsynonymous SNV	MYO7B:NM_001080527:exon32:c.C4353A:p.F1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.158242407878	.	.	3.637e-05	0	0	0	0	3.269e-05	0.0012	6.745e-05	2.59e-05	4	154602	rs781673276	2.327e-05	2.326e-05	2.043e-05	2.615e-05	0.0016	1.675e-05	1.478e-05	0.0008	0.0006	0	2.239e-05	0	0	0	0.0016	1.529e-05	9.942e-05	1.162e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.005	0.72224	D	0.991	0.64070	D	0.783	0.57419	P	0.000001	0.84330	D	0.056827	0.99431	0.42237	D	3.185	0.88900	M	-3.45	0.94469	D	-5.19	0.87063	D	0.768	0.80572	-0.6721	0.61733	T	0.270	0.64193	T	10	0.8125786	0.80527	D	0.158242	0.83867	D	0.748	0.91328	0.677	0.81496	0.833988851327	0.83241	0.8257265811233876	0.82530	0.477184100314	0.46833	0.623649001122	0.56245	T	0.025091	0.49651	T	0.0821453	0.62290	D	0.0365854	0.72705	D	0.81680953502655	0.47536	D	0.960504	0.85148	D	0.6955315	0.77812	0.5418114	0.73518	0.6955315	0.77814	0.5418114	0.73519	-12.182	0.85726	D	.	.	0.917	0.83999	P	.;.;.	.;.;.	3.437734	0.47809	22.5	0.99866745642968513	0.94457	0.94118	0.60166	D	AEFDBI	0.660338	0.63094	D	0.1422813616026	0.48447	3.056862	0.139020688579472	0.46563	2.90029	0.997657519498631	0.35867	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.78	3.9	0.44240	1.305000	0.33098	0.378000	0.17749	0.596000	0.33519	1.000000	0.71638	0.264000	0.24003	0.974000	0.55675	0.0:0.7559:0.0:0.2441	8.050	0.29734	946	0.12043	FERM domain;FERM domain;FERM 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	0.000504	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1002.33	33	chr2	127627281	.	C	A	1002.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.999;DP=693;ExcessHet=0;FS=1.976;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.02;ReadPosRankSum=-0.837;SOR=0.474	GT:AD:DP:GQ:PL	0/1:36,41:77:99:1016,0,990	18	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,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	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	.	.	.	.	.	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	0.004532	0.005051	0.002717	0.002924	0.000000	0.000000	0.012195	0.003788	0.02632	910.33	39	chr2	127632260	.	G	A	910.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=700;ExcessHet=0;FS=2.19;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=-0.221;SOR=0.445	GT:AD:DP:GQ:PL	0/1:29,34:63:99:924,0,661	18	0	1	0
chr2	130509017	130509017	C	G	exonic	POTEI	.	nonsynonymous SNV	POTEI:NM_001277406:exon1:c.G219C:p.R73S,POTEI:NM_001371926:exon2:c.G219C:p.R73S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.0078305631702	.	0.000199681	5.449e-05	0	0.0002	0	0	6.73e-05	0	0	5.17e-05	8	154602	rs565163372	4.636e-05	4.572e-05	4.468e-05	4.806e-05	0.0002	3.715e-05	3.381e-05	4.35e-05	3.978e-05	3.162e-05	0	0	0	0	0.0002	5.546e-05	7.081e-05	0	2.851e-05	4.107e-05	1.391e-05	4.385e-05	6.985e-05	9.66e-06	5.49e-06	5.26e-06	1.97e-06	2.622e-05	0	6.985e-05	0	0	0	0	3.171e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	1.935	0.51832	L	-1.27	0.79277	T	-0.83	0.22727	N	0.154	0.29544	-0.5666	0.66150	T	0.392	0.74604	T	6	0.04784739	0.04157	T	0.007831	0.20773	T	0.170	0.43303	0.268	0.21576	0.148003135375	0.14442	0.027062630361776367	0.02656	.	.	0.482457220554	0.36396	T	0.017405	0.14204	T	-0.203926	0.20240	T	-0.346686	0.39584	T	0.0406105547533618	0.03802	T	0.777622	0.41060	T	0.24995448	0.47993	0.19455664	0.43084	0.24995448	0.47993	0.19455664	0.43084	-9.231	0.69172	D	.	.	0.543	0.66506	A	.;.;.	.;.;.	1.442591	0.18626	13.84	0.94078087534524812	0.24226	0.00563	0.02562	N	AEFI	0.041189	0.06229	N	-0.684236656993075	0.16471	0.8394566	-0.941226752303721	0.11127	0.5649736	1.11275397622661E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	0.109	0.109	0.13884	0.023000	0.13424	.	.	0.179000	0.17797	0.014000	0.18986	0.000000	0.08366	0.003000	0.05239	.	.	.	976	0.04745	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3726.52	130	chr2	130509017	.	C	G	3726.52	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=2619;ExcessHet=0.3672;FS=2.539;InbreedingCoeff=-0.0857;MLEAC=1;MLEAF=0.026;MQ=57.91;MQRankSum=-0.355;QD=3.28;ReadPosRankSum=-0.383;SOR=0.903	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:181,162:343:99:0|1:130508957_C_A:3740,0,4648:130508957	18	0	1	0
chr2	135269005	135269005	T	C	exonic	ZRANB3	.	nonsynonymous SNV	ZRANB3:NM_001286568:exon11:c.A1343G:p.N448S,ZRANB3:NM_032143:exon11:c.A1343G:p.N448S	.	438	1078	6	0	0	6	0.00277521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.355	0.047852108332	.	.	0.0004	0	0	0	0	0	0	0.0027	0.0002911	45	154602	rs527503710	0.0002	0.0002	9.824e-05	0.0002	0.0025	0.0001	0.0001	0.0022	0.0021	0	0	0	0	0	0.0007	2.701e-06	0.0003	0.0025	0.0001	0.0001	1.287e-05	0.0002	0.0037	7.59e-05	6.293e-05	0.0024	0.0020	0	0	0	0	0	0	0	0	0	0.0037	0.234	0.18562	T	0.066	0.44501	T	0.294	0.32693	B	0.287	0.40572	B	0.000005	0.62929	D	0.139118	0.990062	0.41080	D	-0.42	0.02904	N	-2.97	0.92007	D	-1.4	0.34596	N	0.24	0.27077	0.048	0.83199	D	0.552	0.83607	D	10	0.016221672	0.00341	T	0.047852	0.63111	D	0.355	0.67600	0.401	0.43081	0.643017298775	0.64006	0.24679131454246303	0.24593	0.0664678907798	0.07414	0.388327896595	0.23435	T	0.004518	0.03927	T	-0.396806	0.02430	T	-0.347376	0.39505	T	0.0599702310969217	0.07165	T	0.967503	0.88224	D	0.087009	0.20245	0.08465792	0.19490	0.087009	0.20245	0.08465792	0.19489	-7.273	0.56003	T	.	.	0.076	0.06525	B	.;.	.;.	3.095253	0.41689	21.4	0.99331245764536857	0.59777	0.93579	0.58603	D	AEFBI	0.321244	0.42410	N	-0.0263890044163785	0.40663	2.418709	0.173675485697843	0.48409	3.057252	0.648606548585139	0.22136	0.638212	0.43195	0	0.670034	0.63936	0	0.658983	0.55881	0	0.620846	0.47308	0	.	.	5.55	5.55	0.83298	3.429000	0.52567	6.055000	0.53123	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0733:0.0:0.9267	10.367	0.43215	824	0.40336	.;Helicase, 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	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1635.33	34	chr2	135269005	.	T	C	1635.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.126;DP=742;ExcessHet=0;FS=0.735;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.14;ReadPosRankSum=0.183;SOR=0.779	GT:AD:DP:GQ:PL	0/1:42,66:108:99:1649,0,944	18	0	1	0
chr2	142885441	142885441	C	T	exonic	KYNU	.	nonsynonymous SNV	KYNU:NM_001032998:exon2:c.C74T:p.T25M,KYNU:NM_003937:exon2:c.C74T:p.T25M,KYNU:NM_001199241:exon3:c.C74T:p.T25M	.	423	1087	11	1	0	13	0.00594422	.	.	.	707742	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.191	.	7.7e-05	0.00139776	0.0021	0	0.0027	0	0	0.0003	0.0022	0.0124	0.0018111	280	154602	rs199895914	0.0010	0.0010	0.0006	0.0014	0.0128	0.0009	0.0009	0.0122	0.0119	8.963e-05	0.0011	0	2.519e-05	1.872e-05	0.0019	0.0002	0.0010	0.0128	0.0006	0.0006	0.0004	0.0008	0.0127	0.0005	0.0005	0.0101	0.0092	9.625e-05	0	0	0	0	0	0	0.0005	0.0005	0.0127	0.016	0.57480	D	0.035	0.57104	D	0.976	0.58310	D	0.5	0.47649	P	0.000385	0.44960	D	0.225320	1	0.08975	N	2.74	0.80084	M	0.46	0.64630	T	-1.97	0.48020	N	0.439	0.51137	-0.7057	0.60164	T	0.247	0.61589	T	10	0.008279264	0.00188	T	.	.	.	0.191	0.46948	.	.	0.790655237196	0.78871	0.42017046998309715	0.41933	0.0607266434557	0.06755	0.367408037186	0.20458	T	0.054891	0.29853	T	-0.338039	0.05526	T	-0.247315	0.50082	T	0.074337959309471	0.09248	T	0.735226	0.35853	T	0.10781959	0.25493	0.09831209	0.23432	0.097442456	0.22968	0.11528473	0.27828	-5.837	0.44896	T	.	.	0.108	0.25067	B	.;.;.;.;.	.;.;.;.;.	3.159454	0.42806	21.6	0.99803471985251913	0.88817	0.17750	0.19971	N	AEFBCI	0.127978	0.24556	N	0.1610350199355	0.49335	3.135126	0.0862344356662809	0.43854	2.67869	0.999994528473169	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	4.97	4.97	0.65419	1.673000	0.37150	3.159000	0.36559	0.599000	0.40250	0.003000	0.16062	0.202000	0.23578	0.588000	0.31090	0.1606:0.7592:0.0:0.0802	7.948	0.29159	841	0.37094	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003021	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.011364	0.02632	1734.33	35	chr2	142885441	.	C	T	1734.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.599;DP=773;ExcessHet=0;FS=5.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.3;ReadPosRankSum=-0.187;SOR=0.409	GT:AD:DP:GQ:PL	0/1:63,78:141:99:1748,0,1406	18	0	1	0
chr2	157321525	157321525	C	G	exonic	ERMN	.	nonsynonymous SNV	ERMN:NM_001304346:exon3:c.G541C:p.V181L,ERMN:NM_020711:exon3:c.G601C:p.V201L,ERMN:NM_001009959:exon4:c.G640C:p.V214L,ERMN:NM_001304344:exon4:c.G601C:p.V201L,ERMN:NM_001304345:exon4:c.G601C:p.V201L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.00202641819198	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0035	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	9.206e-05	2.239e-05	0	7.6e-05	0	0	0.0002	0.0002	5.858e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.591	0.16134	T	0.753	0.43334	P	0.241	0.38645	B	0.000353	0.45440	D	0.096119	0.825017	0.28834	N	2.39	0.68882	M	.	.	.	-2.33	0.51646	N	0.32	0.63713	-1.0082	0.27479	T	0.064	0.26667	T	9	0.2529603	0.42657	T	0.002026	0.03668	T	0.194	0.47447	0.398	0.42590	0.449379577644	0.44558	0.335866359051135	0.33499	0.188691245063	0.21188	0.471151411533	0.34839	T	0.175291	0.52483	T	0.0512656	0.58505	T	-0.164137	0.57977	T	0.936455905437469	0.60547	D	0.767123	0.39577	T	0.19478427	0.41242	0.19957332	0.43846	0.19478427	0.41242	0.19957332	0.43845	-4.026	0.24787	T	.	.	0.610	0.71848	P	.;.;.	.;.;.	3.057320	0.41045	21.3	0.99387453982124174	0.62157	0.97238	0.73508	D	AEFDBI	0.448369	0.50363	N	0.192805104781322	0.50852	3.271494	0.289710337560756	0.54937	3.657473	0.999627476162613	0.41093	0.706298	0.61202	0	0.709663	0.81188	0	0.491513	0.07944	0	0.564101	0.26826	0	.	.	5.81	4.94	0.64645	2.554000	0.45507	4.885000	0.45705	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.1418:0.7861:0.0:0.0721	9.504	0.38199	557	0.71576	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2647	532.04	166	chr2	157321525	.	C	G	532.04	.	AC=9;AF=0.265;AN=34;BaseQRankSum=-3.653;DP=3113;ExcessHet=5.3738;FS=259.756;InbreedingCoeff=-0.3714;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.76;SOR=11.827	GT:AD:DP:GQ:PL	0/1:137,56:193:33:33,0,2396	8	0	9	2
chr2	157799450	157799450	G	C	exonic	ACVR1	.	nonsynonymous SNV	ACVR1:NM_001105:exon3:c.C44G:p.A15G,ACVR1:NM_001111067:exon3:c.C44G:p.A15G,ACVR1:NM_001347663:exon3:c.C44G:p.A15G,ACVR1:NM_001347664:exon4:c.C44G:p.A15G,ACVR1:NM_001347665:exon4:c.C44G:p.A15G,ACVR1:NM_001347666:exon4:c.C44G:p.A15G,ACVR1:NM_001347667:exon4:c.C44G:p.A15G	Fibrodysplasia ossificans progressiva, Autosomal dominant	6	1446	65	5	0	75	0.0252781	.	.	.	250305	not_provided|not_specified|Progressive_myositis_ossificans	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0007606,MedGen:C0016037,OMIM:135100,Orphanet:337	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.254	.	0.0062	0.00738818	0.0110	0.0006	0.0033	0	0.0054	0.0083	0.0231	0.0410	0.0100128	1548	154602	rs13406336	0.0088	0.0089	0.0076	0.0099	0.0404	0.0086	0.0086	0.0393	0.0389	0.0010	0.0036	0.0081	0.0001	0.0051	0.0207	0.0072	0.0090	0.0404	0.0067	0.0067	0.0064	0.0071	0.0320	0.0064	0.0062	0.0279	0.0263	0.0014	0	0.0076	0.0061	0.0002	0.0066	0.0345	0.0086	0.0048	0.0320	0.019	0.50132	D	0.134	0.34241	T	0.016	0.17332	B	0.007	0.12992	B	0.219181	0.16180	N	0.624103	0.908305	0.36344	D	0.55	0.14455	N	-2.99	0.92108	D	-0.77	0.74051	N	0.154	0.15888	-0.0828	0.80492	T	0.528	0.82472	D	10	0.004531741	0.00094	T	.	.	.	0.254	0.56428	.	.	.	.	0.3766281390763211	0.37576	0.692663828589	0.60675	0.430657148361	0.29298	T	0.487568	0.81357	T	-0.282024	0.10454	T	-0.147897	0.59429	T	0.0101925086234487	0.00138	T	0.719828	0.35417	T	0.067496	0.14622	0.0723129	0.15587	0.06910109	0.15112	0.10094586	0.24151	-4.456	0.30309	T	.	.	0.107	0.21840	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.674691	0.34877	19.75	0.99349011443502289	0.60493	0.90826	0.52333	D	AEFDBI	0.400668	0.47546	N	-0.0936229972742416	0.37671	2.195113	0.108813149421597	0.44998	2.770949	0.99999999925213	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.289000	0.58806	7.669000	0.64672	-0.109000	0.15193	1.000000	0.71638	1.000000	0.68203	0.907000	0.44265	0.0:0.0:1.0:0.0	17.649	0.88060	811	0.42639	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.020141	0.000000	0.009511	0.008772	0.000000	0.025862	0.021341	0.075758	0.1053	3819.41	41	chr2	157799450	.	G	C	3819.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-1.235;DP=846;ExcessHet=0.0101;FS=0;InbreedingCoeff=0.4412;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=17.13;ReadPosRankSum=-1.396;SOR=0.665	GT:AD:DP:GQ:PL	0/1:40,40:80:99:865,0,995	16	1	2	0
chr2	166444775	166444775	T	C	exonic	SCN7A	.	nonsynonymous SNV	SCN7A:NM_002976:exon13:c.A1613G:p.N538S	.	436	1084	2	0	0	2	0.000921659	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.272	.	0.0002	0.00459265	0.0031	0	0	0.0353	0	0.0011	0.0054	0.0012	0.0012613	195	154602	rs78403942	0.0006	0.0006	0.0006	0.0006	0.0143	0.0006	0.0006	0.0133	0.0129	3.053e-05	2.445e-05	0.0048	0.0143	1.908e-05	0.0002	6.933e-05	0.0009	0.0006	0.0007	0.0007	0.0007	0.0007	0.0156	0.0006	0.0006	0.0129	0.0119	2.407e-05	0	0	0.0049	0.0156	9.423e-05	0	7.351e-05	0.0005	0.0002	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.112093	0.02649	N	1.741270	1	0.08975	N	-1.025	0.01131	N	-4.3	0.97172	D	1.31	0.01488	N	0.029	0.01068	-0.2307	0.76869	T	0.272	0.64401	T	10	0.0064884126	0.00147	T	.	.	.	0.272	0.58758	.	.	0.539879176108	0.53640	0.06481041292915053	0.06420	0.029846534252	0.03076	0.254973471165	0.04310	T	0.452162	0.79260	T	-0.49006	0.00649	T	-0.46439	0.26123	T	0.0132908070502156	0.00238	T	0.466353	0.29103	T	0.025017047	0.01392	0.020557923	0.00142	0.025017047	0.01392	0.020557923	0.00142	-1.94	0.02963	T	.	.	0.064	0.02670	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.837804	0.01035	0.044	0.23336182578870104	0.00982	0.01202	0.04284	N	AEFI	0.082172	0.16635	N	-2.08666205034322	0.00137	0.00586314	-2.10775830047511	0.00179	0.007893968	0.996758219254748	0.34982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.96	-11.2	0.00099	-4.303000	0.00293	-4.526000	0.02112	-1.097000	0.01519	0.000000	0.06391	0.000000	0.08366	0.206000	0.22070	0.2446:0.1414:0.2306:0.3835	0.705	0.00856	542	0.72843	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	.	.	.	.	.	.	.	.	0.02632	1149.33	34	chr2	166444775	.	T	C	1149.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.905;DP=752;ExcessHet=0;FS=1.546;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.74;ReadPosRankSum=-1.388;SOR=0.536	GT:AD:DP:GQ:PL	0/1:69,49:118:99:1163,0,1761	18	0	1	0
chr2	184937150	184937150	C	G	exonic	ZNF804A	.	nonsynonymous SNV	ZNF804A:NM_194250:exon4:c.C1754G:p.T585S	.	432	1082	7	1	0	9	0.00414174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0022486078475	7.7e-05	0.000199681	0.0002	0	8.781e-05	0	0	0.0002	0	0.0005	0.0001746	27	154602	rs373736637	0.0001	0.0001	0.0001	0.0001	0.0007	0.0001	0.0001	0.0003	0.0002	0	0.0001	0	2.527e-05	0	0.0007	0.0001	0.0002	0.0004	7.231e-05	7.221e-05	7.716e-05	6.724e-05	0.0008	3.973e-05	3.129e-05	0.0003	0.0002	0	0	6.545e-05	0	0	0	0	8.825e-05	0	0.0008	0.227	0.18498	T	0.738	0.09425	T	0.024	0.19075	B	0.005	0.11217	B	0.004619	0.33568	N	0.210118	1	0.08975	N	2.33	0.66821	M	3.46	0.05249	T	-0.23	0.10656	N	0.071	0.04426	-0.9303	0.44095	T	0.011	0.04274	T	10	0.015689284	0.00329	T	0.002249	0.04287	T	0.020	0.03691	0.134	0.03833	0.043077524339	0.03247	0.0639701319482684	0.06336	0.0334174714276	0.03497	0.312005460262	0.12210	T	0.001972	0.06354	T	-0.52297	0.00423	T	-0.68157	0.06888	T	0.0419196830486211	0.04041	T	0.454055	0.13467	T	0.03717625	0.04717	0.044322427	0.05715	0.03717625	0.04716	0.044322427	0.05714	-2.756	0.07786	T	.	.	0.094	0.14614	B	.;.	.;.	0.865412	0.12382	8.917	0.87965321728069046	0.17614	0.05640	0.11551	N	AEFI	0.045505	0.07449	N	-0.854265832769596	0.11945	0.5793774	-0.765417446010792	0.15344	0.8065327	2.40740943943437E-6	0.01202	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	5.5	2.63	0.30420	0.817000	0.26938	-0.462000	0.09033	-0.176000	0.10722	0.876000	0.30908	0.000000	0.08366	0.969000	0.54022	0.1562:0.4669:0.2945:0.0824	4.200	0.09919	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	692.33	41	chr2	184937150	.	C	G	692.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=1019;ExcessHet=0;FS=3.775;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.31;ReadPosRankSum=0.247;SOR=1.094	GT:AD:DP:GQ:PL	0/1:27,25:52:99:706,0,778	18	0	1	0
chr2	186504215	186504215	G	A	splicing	ZC3H15	NM_018471:exon6:c.717+1G>A	.	.	.	.	.	.	.	.	.	.	1.0000	0.934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	1518.25	38	chr2	186504215	.	G	A	1518.25	.	AC=3;AF=0.088;AN=34;BaseQRankSum=1.56;DP=1053;ExcessHet=18.7922;FS=99.238;InbreedingCoeff=-0.634;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=2.4;ReadPosRankSum=1.93;SOR=10.057	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,10:40:35:.:.:35,0,255:.	14	0	3	2
chr2	197523648	197523648	T	C	exonic	HSPE1-MOB4;MOB4	.	nonsynonymous SNV	MOB4:NM_015387:exon2:c.T85C:p.S29P,HSPE1-MOB4:NM_001202485:exon3:c.T193C:p.S65P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00959765325218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.265e-05	0.0013	8.89e-05	9.642e-05	0.0001	7.932e-05	7.455e-05	9.055e-05	8.505e-05	3.135e-05	0	0.0001	0	0	0	0.0001	8.651e-05	8.389e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	0.579	0.08535	T	0.0	0.02946	B	0.001	0.04355	B	0.000000	0.84330	D	0.053972	0.999993	0.81001	D	-1.795	0.00292	N	.	.	.	1.18	0.01107	N	0.438	0.48042	-0.9766	0.35772	T	0.034	0.14813	T	9	0.10651526	0.19742	T	0.009598	0.25107	T	0.267	0.58126	0.341	0.33302	0.043077524339	0.03247	0.669975451478545	0.66935	1.34794577022	0.84014	0.778468906879	0.78697	T	0.055673	0.30073	T	0.0500577	0.58352	T	-0.165872	0.57820	T	0.811242938041687	0.47136	D	0.892711	0.63097	D	0.20700711	0.42893	0.20881961	0.45200	0.20700711	0.42893	0.20881961	0.45199	-0.876	0.00872	T	.	.	0.084	0.09820	B	.;.	.;.	3.297964	0.45264	22.1	0.8980768734361223	0.19119	0.98559	0.84088	D	AEFBI	0.838587	0.75609	D	-0.516315308048682	0.21553	1.144632	-0.200201322439165	0.31530	1.785231	0.986724794269661	0.31114	0.732398	0.92422	0	0.724815	0.89359	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.02	5.02	0.66742	5.652000	0.67632	7.608000	0.61804	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.399	0.66596	474	0.77851	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	5666.6	35	chr2	197523648	.	T	C	5666.6	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.356;DP=1595;ExcessHet=31.086;FS=383.252;InbreedingCoeff=-0.8661;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=3.89;ReadPosRankSum=0.863;SOR=12.723	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:39,20:59:99:.:.:203,0,625:.	1	0	17	1
chr2	199925261	199925261	A	G	exonic	C2orf69	.	nonsynonymous SNV	C2orf69:NM_153689:exon2:c.A533G:p.N178S	.	471	1050	0	1	0	2	0.000951475	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.000999559515257	0.0002	0.00139776	0.0006	0.0001	0	0.0075	0	5.997e-05	0	0.0001	0.0005692	88	154602	rs141729817	0.0004	0.0004	0.0004	0.0004	0.0061	0.0003	0.0003	0.0055	0.0053	0	0.0002	3.827e-05	0.0061	0	0.0007	0.0002	0.0006	0.0004	0.0005	0.0005	0.0005	0.0005	0.0069	0.0004	0.0004	0.0052	0.0045	0.0001	0	0.0008	0	0.0069	0	0	0.0002	0	0.0010	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.083606	0.20743	N	0.570907	1	0.08975	N	-0.555	0.02337	N	.	.	.	0.31	0.04022	N	0.008	0.00068	-0.9797	0.35071	T	0.011	0.03949	T	9	0.0035810173	0.00065	T	0.001	0.01073	T	0.183	0.45592	.	.	0.112648838833	0.10856	0.17149742620742983	0.17069	0.264940589873	0.29051	.	.	.	3.5E-4	0.00102	T	-0.725109	0.00026	T	-0.80978	0.01670	T	0.00468297175229741	0.00050	T	0.759724	0.38410	T	0.017233592	0.00257	0.03271385	0.02049	0.017233592	0.00256	0.03271385	0.02048	-5.279	0.39734	T	.	.	0.051	0.00161	B	.	.	-1.609213	0.00235	0.004	0.59567612764797295	0.06255	0.04641	0.10310	N	AEFBI	0.034989	0.04429	N	-2.10421203826457	0.00125	0.005368849	-2.05261452712796	0.00236	0.01040418	0.999996343080032	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	6.03	-12.1	0.00008	-0.309000	0.08185	-2.928000	0.03221	-0.681000	0.04224	0.000000	0.06391	0.000000	0.08366	0.980000	0.58198	0.0986:0.1758:0.7256:0.0	19.027	0.92915	640	0.64132	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1052.33	36	chr2	199925261	.	A	G	1052.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.824;DP=730;ExcessHet=0;FS=1.867;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.32;ReadPosRankSum=0.103;SOR=0.458	GT:AD:DP:GQ:PL	0/1:37,42:79:99:1066,0,985	18	0	1	0
chr2	206306635	206306635	C	T	exonic	ZDBF2	.	nonsynonymous SNV	ZDBF2:NM_020923:exon5:c.C2107T:p.R703C,ZDBF2:NM_001369654:exon6:c.C2107T:p.R703C,ZDBF2:NM_001285549:exon7:c.C2101T:p.R701C	.	431	1090	1	0	0	1	0.000458505	.	.	.	2355262	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.032	0.00577191341456	.	0.000399361	7.501e-05	0	0	0.0003	0	0	0.0011	0.0003	7.12e-05	11	154602	rs184921981	5.748e-05	5.746e-05	5.718e-05	5.777e-05	0.0004	4.744e-05	4.367e-05	0.0002	0.0002	0	0.0001	0	0.0004	0	0.0002	2.968e-05	6.627e-05	0.0003	5.256e-05	5.251e-05	5.143e-05	5.374e-05	0.0008	2.557e-05	1.83e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0008	0.104	0.29959	T	0.054	0.47097	T	0.143	0.27649	B	0.003	0.08700	B	0.573088	0.05491	N	1.289450	1	0.08975	N	0	0.06538	N	0.93	0.44065	T	0.22	0.04694	N	0.091	0.06990	-1.0155	0.25175	T	0.045	0.19234	T	10	0.013024062	0.00278	T	0.005772	0.14982	T	0.032	0.07718	.	.	0.110078149338	0.10416	0.05888926746992743	0.05829	0.0915855860622	0.10345	0.240398108959	0.02827	T	0.002163	0.06315	T	-0.513002	0.00483	T	-0.670121	0.07600	T	0.0831001400947571	0.10379	T	.	.	.	0.046945326	0.07941	0.03292648	0.02105	0.046945326	0.07941	0.03292648	0.02104	-2.027	0.03284	T	.	.	0.089	0.13409	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.582184	0.09507	6.284	0.80449250645767001	0.13208	0.01486	0.04939	N	AEFBI	0.049274	0.08495	N	-1.66247654391204	0.00984	0.0426325	-1.76124332711768	0.00891	0.03985588	0.99872791527109	0.37539	0.651	0.46895	0	0.708844	0.79440	0	0.670488	0.60580	0	0.579976	0.35079	0	.	.	4.42	-7.97	0.01007	-0.564000	0.06027	0.009000	0.13411	-0.598000	0.04625	0.010000	0.18352	0.000000	0.08366	0.003000	0.05239	0.1956:0.2429:0.5615:0.0	8.868	0.34458	875	0.30485	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1735.33	34	chr2	206306635	.	C	T	1735.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.27;DP=1642;ExcessHet=0;FS=0.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.11;ReadPosRankSum=0.579;SOR=0.601	GT:AD:DP:GQ:PL	0/1:61,62:123:99:1749,0,1434	18	0	1	0
chr2	219035598	219035598	T	G	exonic	CFAP65	.	nonsynonymous SNV	CFAP65:NM_001278296:exon4:c.A229C:p.I77L,CFAP65:NM_152389:exon4:c.A229C:p.I77L,CFAP65:NM_001278295:exon5:c.A391C:p.I131L,CFAP65:NM_194302:exon5:c.A424C:p.I142L	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0005	0.0071885	0.0036	0.0002	0	0.0466	0	0.0004	0.0033	0.0002	0.00326	504	154602	rs75663378	0.0011	0.0011	0.0011	0.0011	0.0318	0.0011	0.0011	0.0304	0.0298	5.974e-05	2.236e-05	0.0002	0.0318	5.616e-05	0	0.0002	0.0014	0.0002	0.0018	0.0018	0.0013	0.0023	0.0441	0.0016	0.0015	0.0394	0.0376	0.0002	0	0	0.0009	0.0441	0	0	0.0004	0.0014	0.0008	0.219	0.41915	T	0.021	0.92824	D	0.053	0.22573	B	0.022	0.19653	B	0.475097	0.12231	N	0.700200	0.999582	0.20930	N	.	.	.	1.6	0.28604	T	-0.48	0.21860	N	0.292	0.33030	-1.0702	0.09370	T	0.019	0.08033	T	10	0.0034270287	0.00060	T	.	.	.	0.025	0.05312	.	.	0.214338557667	0.21045	0.25884908083715663	0.25798	0.0816263488406	0.09187	0.325879335403	0.14310	T	0.032807	0.22648	T	-0.613135	0.00121	T	-0.612522	0.11781	T	0.00969948854250371	0.00127	T	0.721628	0.35686	T	0.08688568	0.20210	0.06664217	0.13680	0.08688568	0.20210	0.06664217	0.13680	-2.247	0.10010	T	.	.	0.121	0.52252	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	0.614453	0.09830	6.592	0.93637158098150208	0.23514	0.11540	0.16701	N	AEFBI	0.205932	0.33224	N	-0.789253153377991	0.13589	0.6705467	-0.859833901620405	0.13051	0.6749338	0.374785222071486	0.19904	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.39	-7.63	0.01150	-0.643000	0.05518	-5.371000	0.01744	0.661000	0.55757	0.005000	0.17040	0.000000	0.08366	0.954000	0.50415	0.3643:0.3639:0.0:0.2717	6.353	0.20588	591	0.68823	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1252.33	33	chr2	219035598	.	T	G	1252.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.101;DP=770;ExcessHet=0;FS=0.803;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=-0.598;SOR=0.85	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1266,0,1337	18	0	1	0
chr2	224886119	224886119	C	T	exonic	DOCK10	.	nonsynonymous SNV	DOCK10:NM_001290263:exon6:c.G538A:p.G180S,DOCK10:NM_001363762:exon6:c.G595A:p.G199S,DOCK10:NM_014689:exon6:c.G556A:p.G186S	.	429	1091	2	0	0	2	0.000915751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.749	0.0972429376915	.	.	1.659e-05	0	8.673e-05	0	0	0	0	6.058e-05	1.29e-05	2	154602	rs776429569	1.916e-05	1.984e-05	2.178e-05	1.65e-05	0.0001	1.328e-05	1.144e-05	7.997e-05	6.236e-05	0	2.237e-05	0	0	0	0	1.349e-05	0	0.0001	2.632e-05	2.627e-05	1.286e-05	4.043e-05	0.0002	8.15e-06	5.15e-06	4.88e-06	1.83e-06	2.417e-05	0	0	0	0.0002	0	0	2.941e-05	0	0	0.019	0.50132	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	3.57	0.93460	H	-0.79	0.73739	T	-4.38	0.77143	D	0.81	0.81162	0.634	0.92341	D	0.715	0.90210	D	10	0.9655412	0.96030	D	0.097243	0.76739	D	0.749	0.91371	0.923	0.98673	0.877379728821	0.87618	0.6675988601219017	0.66697	0.658221441278	0.58738	0.732056736946	0.71807	T	0.57063	0.85777	D	0.0524778	0.58660	T	0.0742728	0.75195	D	0.887014865875244	0.53748	D	0.979822	0.93110	D	0.53006166	0.68834	0.43106875	0.66736	0.53006166	0.68835	0.43106875	0.66736	-8.635	0.65988	D	.	.	0.812	0.81422	P	.;.;.	.;.;.	4.961046	0.82032	27.7	0.99894225535719594	0.96742	0.94291	0.60700	D	ALL	0.922794	0.89829	D	1.02737079262625	0.96526	14.80305	0.954062523085229	0.97525	16.27756	1.0	0.98316	0.730579	0.87903	0	0.749866	0.99406	0	0.547309	0.15389	0	0.631631	0.49550	0	.	.	5.62	5.62	0.85714	7.905000	0.86479	6.013000	0.52675	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.647	0.95779	878	0.29785	.;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	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.05263	2538.83	34	chr2	224886119	.	C	T	2538.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.29;DP=1055;ExcessHet=0.119;FS=0.969;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.07;ReadPosRankSum=0.654;SOR=0.628	GT:AD:DP:GQ:PL	0/1:73,57:130:99:1409,0,1769	17	0	2	0
chr2	227290795	227290795	G	C	exonic	COL4A3	.	nonsynonymous SNV	COL4A3:NM_000091:exon37:c.G3119C:p.R1040T	Alport syndrome, autosomal dominant, Autosomal dominant;Alport syndrome, autosomal recessive, Autosomal recessive;Hematuria, benign familial, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	3845654	not_provided|Inborn_genetic_diseases	MedGen:C3661900|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0626756258039	.	0.000199681	8.368e-06	0	8.714e-05	0	0	0	0	0	1.29e-05	2	154602	rs187864249	5.474e-06	5.472e-06	4.085e-06	6.877e-06	0.0001	2.36e-06	1.7e-06	4.358e-05	2.767e-05	0	0.0001	0	0	0	0	1.799e-06	1.657e-05	0	1.314e-05	1.313e-05	1.286e-05	1.344e-05	0.0001	2.18e-06	8.2e-07	2.262e-05	9.08e-06	0	0	0.0001	0	0	0	0	0	0	0	0.613	0.05567	T	0.43	0.13713	T	0.007	0.14184	B	0.007	0.12992	B	0.142887	0.18229	N	0.554792	0.913764	0.27449	N	-0.09	0.04745	N	-3.35	0.94022	D	-0.91	0.24460	N	0.261	0.29544	-0.4516	0.70348	T	0.569	0.84399	D	10	0.062354624	0.07959	T	0.062676	0.68726	D	0.220	0.51569	.	.	0.737894262927	0.73554	0.2737578506257544	0.27288	0.278499169253	0.30333	0.290980368853	0.09064	T	0.391941	0.75174	T	-0.103614	0.35826	T	-0.210764	0.53623	T	0.0512844324111938	0.05724	T	0.653935	0.28269	T	0.1401483	0.32346	0.061159924	0.11765	0.1401483	0.32346	0.061159924	0.11765	-3.479	0.16139	T	0.12110335199337476	0.11458	0.090	0.48978	B	.;.	.;.	1.794073	0.22807	15.77	0.73085365237829358	0.10201	0.55893	0.29979	D	AEFDI	0.135999	0.25651	N	-0.433467824330809	0.24303	1.311349	-0.276661272130024	0.28868	1.612967	0.00169053823228202	0.08780	0.638212	0.43195	0	0.670034	0.63936	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.65	2.8	0.31881	-0.237000	0.09007	3.299000	0.37367	0.676000	0.76740	0.016000	0.19238	1.000000	0.68203	0.995000	0.73285	0.0786:0.2873:0.4859:0.1482	4.516	0.11342	887	0.27948	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1691.33	33	chr2	227290795	.	G	C	1691.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.359;DP=772;ExcessHet=0;FS=2.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.01;ReadPosRankSum=0.675;SOR=0.52	GT:AD:DP:GQ:PL	0/1:60,70:130:99:1705,0,1502	18	0	1	0
chr2	227340380	227340380	-	ACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG	exonic	MFF	.	frameshift insertion	MFF:NM_001277066:exon4:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.Y148Pfs*28,MFF:NM_001277068:exon4:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.A148Pfs*62,MFF:NM_001277062:exon5:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.V148Pfs*23,MFF:NM_001277063:exon5:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.W148Pfs*53,MFF:NM_001277064:exon5:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.G169Dfs*27,MFF:NM_001277065:exon5:c.440_441insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.Y148Pfs*28,MFF:NM_001277067:exon5:c.290_291insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.V98Pfs*23,MFF:NM_001277061:exon6:c.518_519insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.W174Pfs*48,MFF:NM_020194:exon6:c.518_519insACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG:p.W174Pfs*48	Encephalopathy due to defective mitochondrial and peroxisomal fission 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0010	0.0001	0.0001	0.0003	9.022e-05	8.504e-05	0.0002	0.0002	0.0003	0.0001	0.0005	0	0.0001	0.0002	7.315e-05	0.0001	0.0003	3.292e-05	0.0010	3.865e-05	2.692e-05	7.268e-05	1.263e-05	7.99e-06	1.927e-05	1.034e-05	7.268e-05	0	6.539e-05	0	0	9.423e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	55.29	36	chr2	227340380	.	T	TACCTGTGTTGCGTGGTGGGTCTGCTGCCGCCACTTCTAATCCTCATCATGACAACGTCAGGTATG	55.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.35;DP=781;ExcessHet=0;FS=1.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.33;MQRankSum=-7.029;QD=1.08;ReadPosRankSum=2.14;SOR=0.914	GT:AD:DP:GQ:PL	0/1:46,5:51:69:69,0,1913	18	0	1	0
chr2	230046653	230046653	G	A	exonic	SLC16A14	.	nonsynonymous SNV	SLC16A14:NM_152527:exon4:c.C473T:p.A158V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.634	0.0751462307587	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.875e-07	1.368e-06	1.369e-06	0	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.111	0.37173	T	0.234	0.43716	B	0.152	0.45921	B	0.000269	0.46590	D	0.094162	0.99996	0.52935	D	2.595	0.75868	M	-1.57	0.81900	D	-3.36	0.66549	D	0.777	0.77413	0.121	0.84556	D	0.539	0.82999	D	10	0.73142123	0.74324	D	0.075146	0.72216	D	0.634	0.85975	0.745	0.87654	0.713815690768	0.71130	0.6616692867895871	0.66103	1.16483280756	0.79586	0.729648530483	0.71455	T	0.495862	0.81840	T	0.192465	0.73190	D	0.0386856	0.72841	D	0.986987113952637	0.77573	D	0.908309	0.67561	D	0.42611185	0.62496	0.3059564	0.56621	0.42611185	0.62497	0.3059564	0.56620	-8.464	0.64191	D	.	.	0.766	0.75731	P	.;.;.	.;.;.	4.482429	0.69953	25.4	0.99906889127012632	0.97726	0.97110	0.72748	D	AEFDBI	0.582800	0.58227	D	0.350791161655516	0.58781	4.052594	0.432512986036819	0.63602	4.597223	0.960434248405783	0.28488	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	4.94	4.94	0.64645	4.073000	0.57290	11.340000	0.92555	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:1.0:0.0	18.358	0.90305	952	0.10565	Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily domain;Major facilitator superfamily domain|Major facilitator superfamily 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	.	.	.	.	.	.	.	.	0.05263	3001.83	36	chr2	230046653	.	G	A	3001.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.243;DP=875;ExcessHet=0.119;FS=0.489;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=1.71;SOR=0.76	GT:AD:DP:GQ:PL	0/1:52,47:99:99:1263,0,1340	17	0	2	0
chr2	232549510	232549510	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G373A:p.A125T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.055	0.00221796310826	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1287251917	0	1.575e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.67	0.04561	T	0.483	0.11795	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.995699	0.23225	N	0.76	0.19266	N	1.56	0.29602	T	-0.16	0.09460	N	0.18	0.19459	-1.0180	0.24366	T	0.087	0.33746	T	8	0.13647899	0.25966	T	0.002218	0.04206	T	0.055	0.15663	0.354	0.35408	0.301789629655	0.29801	0.03610414074900602	0.03557	.	.	0.356378555298	0.18858	T	0.132155	0.46208	T	-0.262038	0.12662	T	-0.614176	0.11647	T	0.215131044387817	0.21218	T	0.524548	0.17205	T	0.055484157	0.10788	0.12149436	0.29314	0.055484157	0.10787	0.12149436	0.29313	-3.001	0.10191	T	.	.	0.075	0.05360	B	.	.	1.128217	0.15144	11.62	0.92923730072353838	0.22486	0.00797	0.03252	N	AEFGBI	0.037701	0.05224	N	-0.367876417896291	0.26620	1.454231	-0.55746153257013	0.20608	1.111072	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	-0.903000	0.06984	-0.178000	0.10482	0.117000	0.23121	0.011000	0.20116	0.123000	0.19290	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	35.72	16	chr2	232549510	.	C	T	35.72	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0;DP=300;ExcessHet=0;FS=0;InbreedingCoeff=-0.0796;MLEAC=1;MLEAF=0.031;MQ=56.59;MQRankSum=-3.445;QD=2.55;ReadPosRankSum=1.01;SOR=0.892	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:12,2:14:48:0|1:232549510_C_T:48,0,481:232549510	15	0	1	3
chr2	232549513	232549513	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G370A:p.A124T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00219902448544	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1350330081	0	6.293e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.713	0.04008	T	0.506	0.10967	T	0.899	0.49514	P	0.787	0.57594	P	.	.	.	.	0.999546	0.21009	N	2.005	0.54552	M	1.49	0.31470	T	-0.79	0.21860	N	0.165	0.17416	-0.9947	0.31379	T	0.105	0.38538	T	8	0.19243413	0.34971	T	0.002199	0.04151	T	0.082	0.23913	0.398	0.42590	0.313518423057	0.30959	0.02492182665721386	0.02443	.	.	0.374947816133	0.21538	T	0.167545	0.51421	T	-0.225216	0.17286	T	-0.561284	0.16256	T	0.35017939762971	0.27026	T	0.530047	0.17581	T	0.09814924	0.23147	0.13288471	0.31878	0.09814924	0.23147	0.13288471	0.31877	-3.021	0.10409	T	.	.	0.099	0.16886	B	.	.	1.250184	0.16471	12.56	0.86624251774057004	0.16661	0.00561	0.02556	N	AEFGBI	0.038874	0.05567	N	-0.395008947537162	0.25645	1.393746	-0.627644686179088	0.18784	1.004976	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.442000	0.21343	0.859000	0.22211	0.596000	0.33519	0.037000	0.20830	0.014000	0.20376	0.041000	0.14368	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03333	42.38	16	chr2	232549513	.	C	T	42.38	.	AC=1;AF=0.033;AN=30;BaseQRankSum=1.34;DP=302;ExcessHet=0;FS=0;InbreedingCoeff=-0.1004;MLEAC=1;MLEAF=0.033;MQ=56;MQRankSum=-3.138;QD=3.53;ReadPosRankSum=0.447;SOR=1.179	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,2:12:54:0|1:232549510_C_T:54,0,413:232549510	14	0	1	4
chr2	232549518	232549518	A	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.T365A:p.V122E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	0.00134953199851	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1270623677	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.999798	0.20333	N	-2.72	0.00030	N	1.53	0.30401	T	1.57	0.00677	N	0.126	0.11912	-0.9733	0.36496	T	0.011	0.04227	T	8	0.028942138	0.01023	T	0.00135	0.01936	T	0.018	0.03083	0.431	0.48007	0.0716867268079	0.06686	0.03137575966878789	0.03086	.	.	0.426254749298	0.28696	T	0.121027	0.44369	T	-0.317638	0.07093	T	-0.694041	0.06158	T	0.043319108104939	0.04297	T	0.0547945	0.00394	T	0.18671499	0.40092	0.18082406	0.40906	0.18671499	0.40092	0.18082406	0.40905	0.811	0.00158	T	.	.	0.048	0.00090	B	.	.	-0.225105	0.02965	0.440	0.88682828380446543	0.18171	0.00124	0.00775	N	AEFGBI	0.022880	0.01201	N	-1.76933389965436	0.00624	0.02692902	-1.70214441879084	0.01128	0.05070815	0.999884870920577	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-1.11	0.09336	-0.495000	0.06524	0.069000	0.14235	-0.112000	0.15009	0.117000	0.23121	0.164000	0.23286	0.071000	0.16709	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	44.85	16	chr2	232549518	.	A	T	44.85	.	AC=1;AF=0.031;AN=32;BaseQRankSum=2.36;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0846;MLEAC=1;MLEAF=0.031;MQ=55.62;MQRankSum=-2.362;QD=4.08;ReadPosRankSum=0.447;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:232549510_C_T:57,0,372:232549510	15	0	1	3
chr2	232549519	232549519	C	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.G364A:p.V122M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00134745809998	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1330384880	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.28520	T	0.009	0.66756	D	0.144	0.27697	B	0.066	0.27432	B	.	.	.	.	0.999933	0.19363	N	0	0.06538	N	1.48	0.31731	T	0.33	0.03889	N	0.091	0.06990	-1.0195	0.23877	T	0.033	0.14377	T	8	0.05338645	0.05521	T	0.001347	0.01936	T	0.016	0.02506	0.378	0.39319	0.0986583533028	0.09354	0.051309855353736146	0.05072	.	.	0.436837911606	0.30145	T	0.137141	0.46992	T	-0.292978	0.09339	T	-0.658619	0.08360	T	0.0629878365535122	0.07631	T	0.339666	0.07323	T	0.07835389	0.17837	0.12504655	0.30133	0.07835389	0.17837	0.12504655	0.30132	-5.584	0.42646	T	.	.	0.099	0.16800	B	.	.	1.745162	0.22204	15.52	0.85008926846249744	0.15630	0.00734	0.03074	N	AEFGBI	0.037686	0.05218	N	-1.11779158903546	0.06326	0.2909238	-1.16808452328762	0.06449	0.3104785	0.999862968112135	0.44398	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	-0.456	0.11581	0.442000	0.21343	0.027000	0.13676	-0.180000	0.10397	0.322000	0.25520	0.347000	0.24452	0.171000	0.21011	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	44.77	16	chr2	232549519	.	C	T	44.77	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.447;DP=306;ExcessHet=0;FS=0;InbreedingCoeff=-0.0815;MLEAC=1;MLEAF=0.031;MQ=55.62;MQRankSum=-2.362;QD=4.07;ReadPosRankSum=0.447;SOR=1.371	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:9,2:11:57:0|1:232549510_C_T:57,0,372:232549510	15	0	1	3
chr2	232549525	232549525	T	C	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.A358G:p.R120G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.00253191833817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs988700174	7.622e-06	1.567e-05	8.24e-06	7.09e-06	1.293e-05	1.78e-06	1.2e-06	4.02e-06	2.04e-06	0	0	0	0	0	0	1.293e-05	0	0	6.582e-06	6.57e-06	1.286e-05	0	2.418e-05	0	0	.	.	2.418e-05	0	0	0	0	0	0	0	0	0	0.317	0.13699	T	0.148	0.32675	T	0.65	0.40644	P	0.415	0.44933	B	.	.	.	.	0.98261	0.24951	N	2.05	0.56469	M	1.37	0.34253	T	-0.55	0.16799	N	0.174	0.18649	-1.0255	0.21919	T	0.090	0.34546	T	8	0.18827486	0.34375	T	0.002532	0.05065	T	0.049	0.13647	0.481	0.56142	0.744681466868	0.74238	0.11256495900239101	0.11184	.	.	0.36315536499	0.19845	T	0.240422	0.60874	T	-0.173133	0.24763	T	-0.48647	0.23762	T	0.338491348514844	0.26564	T	0.59884	0.22311	T	0.12546013	0.29411	0.20061272	0.44001	0.12546013	0.29411	0.20061272	0.44000	-7.723	0.59167	D	.	.	0.120	0.24901	B	.	.	2.182338	0.27816	17.59	0.90259914200950342	0.19530	0.05198	0.11021	N	AEFGBI	0.101547	0.20393	N	-0.316897915568869	0.28507	1.572883	-0.431873427428098	0.24067	1.315899	0.999875630302105	0.44625	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.446000	0.21410	0.877000	0.22363	0.661000	0.55757	0.836000	0.30223	0.845000	0.27336	0.794000	0.37478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.03125	47.73	17	chr2	232549525	.	T	C	47.73	.	AC=1;AF=0.031;AN=32;BaseQRankSum=-0.14;DP=300;ExcessHet=0;FS=0;InbreedingCoeff=-0.0796;MLEAC=1;MLEAF=0.031;MQ=55.16;MQRankSum=-2.287;QD=4.77;ReadPosRankSum=-0.282;SOR=1.609	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:8,2:10:60:0|1:232549510_C_T:60,0,330:232549510	15	0	1	3
chr2	232549530	232549530	G	T	exonic	TIGD1	.	nonsynonymous SNV	TIGD1:NM_145702:exon1:c.C353A:p.A118D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	0.00215114005637	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1484242912	0	4.69e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.49	0.07994	T	0.592	0.08161	T	0.956	0.54666	P	0.887	0.62952	P	.	.	.	.	0.92348	0.27237	N	1.82	0.47800	L	1.29	0.35775	T	-0.09	0.08340	N	0.182	0.19728	-0.9515	0.40712	T	0.139	0.45640	T	8	0.22539988	0.39368	T	0.002151	0.04016	T	0.081	0.23632	0.393	0.41770	0.730657502441	0.72826	0.08914081496926869	0.08847	.	.	0.392814904451	0.24066	T	0.192982	0.54830	T	-0.181875	0.23458	T	-0.499028	0.22448	T	0.284047822348565	0.24341	T	0.464953	0.13579	T	0.42828092	0.62639	0.34581423	0.60259	0.42828092	0.62639	0.34581423	0.60258	-5.1	0.37908	T	.	.	0.115	0.23113	B	.	.	2.606083	0.33840	19.46	0.89761259335368337	0.19078	0.14941	0.18664	N	AEFGBCI	0.071620	0.14265	N	-0.0341153908112047	0.40315	2.392057	-0.20293493821147	0.31431	1.778708	0.999881489825719	0.44867	0.608746	0.35421	0	0.587265	0.34161	0	0.731467	0.93227	0	0.605231	0.38476	0	.	.	0.556	0.556	0.16442	0.531000	0.22759	1.215000	0.24935	0.672000	0.70159	0.916000	0.31843	0.908000	0.28083	0.871000	0.41478	.	.	.	917	0.20147	HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain|HTH CenpB-type DNA-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02941	53.39	16	chr2	232549530	.	G	T	53.39	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.465;DP=290;ExcessHet=0;FS=0;InbreedingCoeff=-0.0703;MLEAC=1;MLEAF=0.029;MQ=53.89;MQRankSum=-2.1;QD=6.67;ReadPosRankSum=-1.068;SOR=1.445	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:6,2:8:66:0|1:232549510_C_T:66,0,246:232549510	16	0	1	2
chr2	232847517	232847517	A	0	exonic	GIGYF2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	7129.64	35	chr2	232847517	.	A	*	7129.64	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-0.589;DP=2245;ExcessHet=1.0106;FS=0.551;InbreedingCoeff=0.0526;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.451;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,46:112:99:.:.:1567,0,2526:.	6	3	10	0
chr2	233335071	233335071	G	A	exonic	SAG	.	nonsynonymous SNV	SAG:NM_000541:exon11:c.G916A:p.E306K	Oguchi disease-1, Autosomal recessive;Retinitis pigmentosa 47	0	1521	1	0	0	1	0.000328623	.	.	YES	2749233	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.275	0.0321503963129	.	.	.	.	.	.	.	.	.	.	.	.	.	rs397514682	1.232e-05	1.231e-05	5.446e-06	1.926e-05	0.0002	7.7e-06	6.35e-06	6.246e-05	4.757e-05	0	0	0	5.038e-05	0	0.0002	2.698e-06	3.313e-05	0.0001	1.313e-05	1.312e-05	0	2.684e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.053	0.38863	T	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.655	0.77738	M	3.11	0.08194	T	-3.37	0.66665	D	0.907	0.90818	-1.0220	0.23063	T	0.088	0.34133	T	10	0.7971338	0.79171	D	0.03215	0.54051	D	0.275	0.59130	0.539	0.65018	0.703980281492	0.70141	0.7037248417315666	0.70313	0.587072184464	0.54300	0.818653285503	0.84822	D	0.382201	0.74434	T	-0.124582	0.32377	T	-0.235202	0.51265	T	0.973209202289581	0.70002	D	.	.	.	0.5053662	0.67409	0.42527598	0.66341	0.5053662	0.67410	0.42527598	0.66341	-11.78	0.83762	D	.	.	0.309	0.53671	B	.	.	5.541562	0.91968	32	0.99925017486802559	0.99042	0.96012	0.67135	D	AEFBCI	0.915787	0.88107	D	0.85607533802623	0.89452	9.977384	0.771396448962076	0.87744	9.329313	0.999999999992292	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.57	4.57	0.55860	10.003000	0.99689	11.814000	0.97026	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.911000	0.44643	0.0:0.0:1.0:0.0	16.687	0.85170	878	0.29785	Arrestin C-terminal-like domain|Arrestin C-terminal-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	.	.	.	.	.	.	.	.	0.02632	861.33	34	chr2	233335071	.	G	A	861.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.416;DP=702;ExcessHet=0;FS=0.877;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.33;ReadPosRankSum=-0.255;SOR=0.902	GT:AD:DP:GQ:PL	0/1:37,39:76:99:875,0,845	18	0	1	0
chr2	238130392	238130392	G	A	exonic	ESPNL	.	nonsynonymous SNV	ESPNL:NM_001308370:exon4:c.G574A:p.G192R,ESPNL:NM_194312:exon9:c.G1678A:p.G560R	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.0693573402986	0.0007	0.00159744	0.0007	0.0038	0.0001	0.0029	0	0.0002	0	0.0010	0.0005627	87	154602	rs145074139	0.0002	0.0002	0.0002	0.0002	0.0028	0.0002	0.0002	0.0023	0.0021	0.0028	0.0002	0	0.0008	0	0	4.68e-05	0.0005	0.0006	0.0008	0.0008	0.0008	0.0008	0.0025	0.0007	0.0006	0.0018	0.0017	0.0022	0	0.0003	0	0.0025	0	0	2.941e-05	0.0014	0.0006	0.196	0.20683	T	0.395	0.18617	T	0.009	0.17332	B	0.007	0.17743	B	0.819610	0.09188	N	0.878539	1	0.08975	N	1.335	0.33326	L	-0.05	0.63403	T	-2.3	0.51157	N	0.058	0.15888	-0.9937	0.31643	T	0.097	0.36341	T	10	0.0038446784	0.00073	T	0.069357	0.70706	D	0.131	0.35738	0.226	0.15109	0.149567049428	0.14543	0.08051695251524227	0.07986	0.153672317114	0.17337	0.531638860703	0.43265	T	0.003771	0.03181	T	-0.417466	0.01776	T	-0.371622	0.36700	T	0.00308815792051086	0.00032	T	0.635136	0.24942	T	0.044621535	0.07163	0.09384508	0.22185	0.044621535	0.07162	0.09384508	0.22185	-4.823	0.34858	T	.	.	0.131	0.29311	B	.;.;.	.;.;.	0.511841	0.08805	5.585	0.78534550850602469	0.12342	0.09500	0.15242	N	AEFBI	0.114676	0.22577	N	-1.09530028795792	0.06729	0.3106143	-1.14816182804525	0.06801	0.3286075	0.368077773525818	0.19843	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	3.9	2.05	0.25860	0.488000	0.22080	-0.080000	0.12189	-0.949000	0.02041	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1961:0.1722:0.6316:0.0	5.106	0.14117	969	0.06854	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1774.83	66	chr2	238130392	.	G	A	1774.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.75;DP=820;ExcessHet=0.119;FS=2.683;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=0.355;SOR=1.045	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:27,31:58:99:0|1:238130392_G_A:1202,0,1010:238130392	17	0	2	0
chr2	238164320	238164320	C	T	exonic	ERFE	.	nonsynonymous SNV	ERFE:NM_001291832:exon6:c.C847T:p.R283C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.301	0.308395710082	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1242808103	6.514e-06	1.094e-05	7.145e-06	5.866e-06	7.44e-06	3.07e-06	2.22e-06	3.2e-06	2.31e-06	0	0	0	0	0	0	7.44e-06	1.741e-05	0	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.823e-05	5.24e-06	2.45e-06	7.99e-06	2.99e-06	4.823e-05	0	0	0	0	0	0	1.47e-05	0	0	0.043	0.41364	D	0.011	0.64786	D	.	.	.	.	.	.	0.035946	0.24582	N	0.353536	0.999841	0.49770	D	.	.	.	0.93	0.44065	T	-6.51	0.91653	D	0.619	0.63459	-0.8736	0.50257	T	0.158	0.49178	T	8	0.73059887	0.74271	D	0.308396	0.91107	D	0.301	0.62179	0.561	0.68093	0.623049244626	0.61998	0.45652942995381224	0.45570	.	.	.	.	.	0.383283	0.74517	T	-0.030352	0.47366	T	-0.281375	0.46664	T	0.904633343219757	0.55815	D	0.756924	0.38041	T	0.32840264	0.55340	0.2911088	0.55135	0.32840264	0.55340	0.2911088	0.55134	-11.485	0.82251	D	.	.	0.495	0.64352	A	.	.	5.307898	0.89104	29.9	0.9949370148317831	0.67630	0.93164	0.57492	D	AEFDBCI	0.753966	0.69399	D	-0.190312755762293	0.33537	1.903772	-0.259910885317387	0.29431	1.648838	0.9999979966686	0.74766	0.676563	0.55306	0	0.59043	0.45803	0	0.673471	0.61138	0	0.63947	0.58350	0	.	.	4.4	3.52	0.39415	3.619000	0.53937	5.490000	0.48745	-0.221000	0.07976	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.0:0.9085:0.0:0.0915	11.364	0.48898	969	0.06854	C1q 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	.	.	.	.	.	.	.	.	0.05263	1308.83	38	chr2	238164320	.	C	T	1308.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.25;DP=745;ExcessHet=0.119;FS=1.655;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=0.155;SOR=0.954	GT:AD:DP:GQ:PL	0/1:19,20:39:99:548,0,427	17	0	2	0
chr2	241678520	241678520	C	T	exonic	DTYMK	.	nonsynonymous SNV	DTYMK:NM_001320902:exon3:c.G331A:p.G111R,DTYMK:NM_001165031:exon4:c.G388A:p.G130R,DTYMK:NM_001320904:exon4:c.G403A:p.G135R,DTYMK:NM_012145:exon4:c.G460A:p.G154R,DTYMK:NM_001320905:exon5:c.G577A:p.G193R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00140212359867	.	.	8.238e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs770798383	9.577e-06	1.026e-05	9.529e-06	9.626e-06	1.159e-05	5.56e-06	4.35e-06	5.75e-06	4.55e-06	0	0	0	0	0	0	1.079e-05	1.656e-05	1.159e-05	1.971e-05	1.97e-05	2.569e-05	1.345e-05	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.525	0.07140	T	0.521	0.10429	T	0.004	0.12183	B	0.003	0.08700	B	0.207286	0.16451	N	0.658943	1	0.08975	N	0.375	0.12094	N	1.0	0.41392	T	-0.83	0.22727	N	0.122	0.11340	-1.0570	0.12517	T	0.030	0.12892	T	10	0.056549966	0.06356	T	0.001402	0.02062	T	0.045	0.12272	0.429	0.47680	0.274431252636	0.27063	0.30412683750699876	0.30325	0.324506436646	0.34611	0.322048723698	0.13732	T	0.117323	0.43732	T	-0.288385	0.09799	T	-0.544364	0.17869	T	0.0202120886029221	0.00721	T	0.738226	0.35599	T	0.0966057	0.22757	0.06306565	0.12437	0.0966057	0.22756	0.06306565	0.12437	-3.725	0.19688	T	.	.	0.125	0.26419	B	.	.	-1.374652	0.00379	0.007	0.69556503133308745	0.09010	0.03794	0.09121	N	AEFBCI	0.062113	0.11920	N	-1.84483279675278	0.00444	0.01911525	-2.02771482007791	0.00267	0.01179967	0.999827516793063	0.43622	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.05	-10.1	0.00330	-0.129000	0.10493	-4.775000	0.01992	-2.739000	0.00200	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0819:0.4526:0.1799:0.2856	6.262	0.20114	970	0.06235	Thymidylate kinase-like domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1320.33	33	chr2	241678520	.	C	T	1320.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.55;DP=871;ExcessHet=0;FS=4.512;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.48;ReadPosRankSum=0.35;SOR=0.559	GT:AD:DP:GQ:PL	0/1:65,50:115:99:1334,0,1422	18	0	1	0
chr3	9725976	9725976	C	T	exonic	CPNE9	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1424.33	34	chr3	9725976	.	C	T	1424.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.84;DP=698;ExcessHet=0;FS=7.333;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.16;ReadPosRankSum=-0.582;SOR=0.885	GT:AD:DP:GQ:PL	0/1:33,50:83:99:1438,0,738	18	0	1	0
chr3	9867240	9867241	CC	-	exonic	CIDEC	.	frameshift deletion	CIDEC:NM_001321144:exon5:c.388_389del:p.G130Hfs*46,CIDEC:NM_001199552:exon6:c.610_611del:p.G204Hfs*46,CIDEC:NM_001199623:exon6:c.649_650del:p.G217Hfs*46,CIDEC:NM_001321143:exon6:c.388_389del:p.G130Hfs*46,CIDEC:NM_001378491:exon6:c.610_611del:p.G204Hfs*46,CIDEC:NM_022094:exon6:c.610_611del:p.G204Hfs*46,CIDEC:NM_001199551:exon7:c.640_641del:p.G214Hfs*46,CIDEC:NM_001321142:exon7:c.610_611del:p.G204Hfs*46	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0003	0.0002	6.008e-05	0	0.0004	9.7e-05	15	154602	rs777480698	9.44e-05	9.645e-05	8.712e-05	0.0001	0.0004	8.135e-05	7.651e-05	0.0003	0.0002	2.987e-05	0	0	7.557e-05	3.747e-05	0	8.633e-05	8.279e-05	0.0004	5.25e-05	5.249e-05	5.138e-05	5.367e-05	7.349e-05	2.554e-05	1.828e-05	2.846e-05	1.858e-05	0	0	6.536e-05	0	0	9.406e-05	0	7.349e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1425.29	40	chr3	9867239	.	GCC	G	1425.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.545;DP=779;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.84;ReadPosRankSum=-0.274;SOR=0.754	GT:AD:DP:GQ:PL	0/1:52,38:90:99:1439,0,2069	18	0	1	0
chr3	9893079	9893079	C	G	exonic	JAGN1	.	nonsynonymous SNV	JAGN1:NM_001363890:exon2:c.C92G:p.S31C,JAGN1:NM_032492:exon2:c.C254G:p.S85C	Neutropenia, severe congenital, 6, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0222805343604	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.437e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.34621	T	0.112	0.37037	T	0.975	0.58077	D	0.815	0.58847	P	0.000567	0.43250	D	0.239229	0.999811	0.49394	D	1.85	0.49092	L	.	.	.	-2.63	0.56466	D	0.312	0.35194	-0.1637	0.78580	T	0.425	0.76883	T	9	0.7841961	0.78107	D	0.022281	0.45152	T	0.231	0.53208	0.628	0.76366	0.683740502345	0.68104	0.6627413893646246	0.66211	0.212106756448	0.23704	0.526173651218	0.42496	T	0.678045	0.90516	D	-8.60054e-05	0.51642	T	-0.2379	0.51002	T	0.779613614082336	0.45026	D	0.80002	0.44558	T	0.2279283	0.45502	0.17835206	0.40498	0.2279283	0.45503	0.17835206	0.40498	-4.712	0.33549	T	0.4634591731430876	0.54522	0.089	0.12037	B	.;.	.;.	3.806161	0.54877	23.5	0.98816351311557915	0.46704	0.94644	0.61841	D	AEFDBHCI	0.796274	0.72345	D	0.675974272007514	0.78056	6.795716	0.657737313030869	0.79189	7.029903	0.99999999998018	0.74766	0.722319	0.85440	0	0.696144	0.67643	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.73	5.73	0.89730	4.046000	0.57088	7.664000	0.64404	0.544000	0.25403	0.976000	0.34826	1.000000	0.68203	0.983000	0.59808	0.0:1.0:0.0:0.0	19.488	0.95031	671	0.60868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	181.33	40	chr3	9893079	.	C	G	181.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.141;DP=866;ExcessHet=0;FS=64.715;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.2;ReadPosRankSum=1.78;SOR=5.993	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:132,19:151:99:0|1:9893075_C_G:195,0,5297:9893075	18	0	1	0
chr3	36829633	36829633	T	C	exonic	TRANK1	.	nonsynonymous SNV	TRANK1:NM_014831:exon22:c.A8608G:p.I2870V,TRANK1:NM_001329998:exon23:c.A8740G:p.I2914V	.	437	1001	81	3	0	87	0.0416467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	.	0.0041	0.0091853	0.0086	0.0012	0.0027	0	0.0002	0.0061	0.0067	0.0353	0.0079883	1235	154602	rs147602680	0.0067	0.0067	0.0057	0.0077	0.0356	0.0066	0.0065	0.0345	0.0341	0.0009	0.0033	0.0053	2.519e-05	0.0004	0.0210	0.0053	0.0063	0.0356	0.0043	0.0043	0.0039	0.0048	0.0332	0.0041	0.0039	0.0290	0.0274	0.0010	0	0.0038	0.0049	0.0002	0.0008	0.0170	0.0052	0.0071	0.0332	0.196	0.20683	T	0.372	0.16376	T	0.0	0.02946	B	0.0	0.01387	B	0.520809	0.05201	N	1.404800	1	0.08975	N	0.69	0.16971	N	2.0	0.21473	T	0.02	0.06739	N	0.057	0.02861	-0.9958	0.31082	T	0.035	0.15074	T	10	0.0029999614	0.00049	T	.	.	.	0.031	0.07369	.	.	0.0986583533028	0.09354	0.07676767821433089	0.07612	0.145140460238	0.16409	0.310466110706	0.11977	T	0.027208	0.19973	T	-0.694287	0.00039	T	-0.744309	0.03712	T	0.00112084309542654	0.00011	T	0.558444	0.19458	T	0.047605358	0.08164	0.053054407	0.08861	0.047605358	0.08164	0.053054407	0.08861	-2.739	0.07636	T	.	.	0.071	0.04599	B	.;.	.;.	0.094974	0.04978	1.540	0.89386594739393521	0.18753	0.01778	0.05572	N	AEFDGBI	0.046980	0.07860	N	-1.01800290355481	0.08230	0.3851583	-1.02789908835854	0.09174	0.4549581	0.82360940086271	0.24567	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.17	-2.89	0.05326	-0.033000	0.12196	-3.041000	0.03115	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.927000	0.46353	0.0:0.4816:0.0:0.5184	10.658	0.44877	794	0.45591	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.006793	0.005848	0.000000	0.017241	0.015244	0.026515	0.05263	3063.83	40	chr3	36829633	.	T	C	3063.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.34;DP=874;ExcessHet=0.119;FS=1.484;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.15;SOR=0.82	GT:AD:DP:GQ:PL	0/1:70,72:142:99:1739,0,1710	17	0	2	0
chr3	38007777	38007777	T	C	exonic	PLCD1	.	nonsynonymous SNV	PLCD1:NM_001130964:exon15:c.A2330G:p.D777G,PLCD1:NM_006225:exon15:c.A2267G:p.D756G	Nail disorder, nonsyndromic congenital, 3, (leukonychia), Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.250	0.0669384462643	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.011	0.64786	D	0.996	0.68779	D	0.871	0.61869	P	0.000130	0.49741	D	0.203076	0.999939	0.51612	D	2.495	0.72670	M	1.78	0.25678	T	-3.37	0.68764	D	0.352	0.39659	-0.8428	0.52460	T	0.146	0.46967	T	10	0.3048461	0.48006	T	0.066938	0.70022	D	0.250	0.55888	0.431	0.48007	0.627195870872	0.62415	0.49758987617443856	0.49679	0.807291587251	0.66545	0.566183447838	0.48139	T	0.685537	0.90808	D	0.021851	0.54632	T	-0.206389	0.54039	T	0.985782146453857	0.76677	D	0.814719	0.46890	T	0.24314588	0.47250	0.23882036	0.49215	0.24314588	0.47250	0.23882036	0.49214	-6.15	0.47517	T	.	.	0.142	0.34427	B	.;.	.;.	4.152734	0.62308	24.4	0.99745181061800858	0.83852	0.95889	0.66590	D	AEFDBCI	0.506348	0.53711	D	0.601853758696996	0.73291	5.942306	0.561011747386206	0.72167	5.767304	0.99999998650527	0.74766	0.732398	0.92422	0	0.694456	0.67091	0	0.743671	0.96076	0	0.635551	0.53088	0	.	.	5.01	5.01	0.66477	5.284000	0.65431	4.231000	0.42652	0.663000	0.56723	1.000000	0.71638	1.000000	0.68203	0.764000	0.36293	0.0:0.0811:0.0:0.9189	10.033	0.41282	580	0.69689	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1119.33	33	chr3	38007777	.	T	C	1119.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.85;DP=738;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-2.073;SOR=0.776	GT:AD:DP:GQ:PL	0/1:53,44:97:99:1133,0,1202	18	0	1	0
chr3	45967860	45967860	G	A	exonic	FYCO1	.	nonsynonymous SNV	FYCO1:NM_024513:exon8:c.C1474T:p.R492W	Cataract 18, autosomal recessive, Autosomal recessive	0	1518	4	0	0	4	0.00131579	.	.	.	291589	Cataract_18|FYCO1-related_disorder|not_provided	MONDO:MONDO:0012395,MedGen:C1864908,OMIM:610019,Orphanet:91492,Orphanet:98991,Orphanet:98992,Orphanet:98995|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.073	0.0186888804903	0.0026	0.00179712	0.0027	0.0002	0.0026	0.0001	0.0021	0.0039	0.0055	0.0007	0.0006274	97	154602	rs143704916	0.0025	0.0025	0.0026	0.0024	0.0029	0.0025	0.0024	0.0029	0.0028	0.0004	0.0029	0.0004	7.557e-05	0.0014	0.0016	0.0029	0.0026	0.0005	0.0026	0.0026	0.0027	0.0025	0.0077	0.0024	0.0023	0.0066	0.0062	0.0004	0	0.0077	0	0.0002	0.0008	0	0.0035	0.0028	0.0004	0.01	0.56456	D	0.011	0.64786	D	0.989	0.62824	D	0.431	0.45421	B	0.334439	0.04150	N	1.435910	1	0.08975	N	1.5	0.37844	L	2.02	0.21666	T	-2.58	0.55662	D	0.265	0.30004	-1.0365	0.18388	T	0.047	0.19998	T	10	0.004735142	0.00100	T	0.018689	0.40835	T	0.073	0.21317	.	.	0.29527378943	0.29149	0.18505202132207824	0.18423	0.383985489066	0.39712	0.178364992142	0.00080	T	0.041947	0.26023	T	-0.503996	0.00543	T	-0.496739	0.22686	T	0.0212506916887722	0.00827	T	0.787921	0.42712	T	0.0805889	0.18473	0.061113063	0.11748	0.06520861	0.13914	0.082107544	0.18712	-6.423	0.49688	T	0.3452860605667937	0.44281	0.090	0.12560	B	.;.	.;.	2.326607	0.29799	18.24	0.99770301325805177	0.85834	0.39927	0.26322	N	AEFDBCI	0.393957	0.47141	N	-0.24171235665711	0.31436	1.762635	-0.3576786001593	0.26272	1.450072	0.999989741928877	0.51787	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.55	3.58	0.40133	2.064000	0.41059	0.645000	0.20357	0.676000	0.76740	0.012000	0.18695	0.000000	0.08366	0.001000	0.02609	0.0943:0.1264:0.5164:0.2629	3.103	0.05950	390	0.83257	.;.	.	.	.	.	.	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	0.002518	0.000000	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1058.33	56	chr3	45967860	.	G	A	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=1081;ExcessHet=0;FS=5.934;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.89;ReadPosRankSum=-0.752;SOR=0.683	GT:AD:DP:GQ:PL	0/1:75,44:119:99:1072,0,1796	18	0	1	0
chr3	46409095	46409095	A	G	exonic	CCRL2	.	nonsynonymous SNV	CCRL2:NM_001130910:exon2:c.A1052G:p.D351G,CCRL2:NM_003965:exon2:c.A1016G:p.D339G	.	.	.	.	.	.	.	.	.	.	.	2398936	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.082	0.0101614318922	.	0.000399361	0.0002	0	8.649e-05	0.0016	0	6.036e-05	0.0011	0	0.0001294	20	154602	rs184378837	5.552e-05	5.541e-05	5.997e-05	5.102e-05	0.0011	4.552e-05	4.164e-05	0.0008	0.0007	0	2.246e-05	0	0.0011	0	0.0002	2.973e-05	6.635e-05	0	9.189e-05	9.186e-05	0.0001	8.054e-05	0.0015	5.522e-05	4.36e-05	0.0008	0.0006	0	0	6.538e-05	0	0.0015	0	0	7.35e-05	0	0	0.25	0.17761	T	0.248	0.24477	T	0.001	0.09854	B	0.001	0.06944	B	0.140026	0.02878	N	1.862430	1	0.08975	N	0	0.06538	N	0.23	0.59851	T	-2.16	0.48850	N	0.088	0.07125	-1.0509	0.14147	T	0.114	0.40513	T	10	0.0080550015	0.00183	T	0.010161	0.26368	T	0.082	0.23913	.	.	0.383760037723	0.37989	0.25135576522842995	0.25049	0.0357140560537	0.03767	0.222281813622	0.01446	T	0.090139	0.38521	T	-0.585622	0.00178	T	-0.64936	0.08999	T	0.289837121963501	0.24583	T	0.685431	0.29402	T	0.054218873	0.10372	0.057978764	0.10636	0.054218873	0.10372	0.057978764	0.10635	-2.682	0.07371	T	.	.	0.073	0.06571	B	.;.;.;.	.;.;.;.	0.123782	0.05206	1.718	0.92458904503659822	0.21885	0.11539	0.16700	N	AEFDBHCI	0.137682	0.25874	N	-1.18807593611134	0.05180	0.2355156	-1.21748303069996	0.05629	0.2687259	0.999999531457911	0.74766	0.51972	0.21558	0	0.588066	0.40923	0	0.615948	0.41167	0	0.678554	0.66404	0	.	.	4.95	-0.272	0.12280	0.031000	0.13598	0.177000	0.15587	-0.113000	0.14837	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.412:0.1586:0.2756:0.1538	0.931	0.01250	423	0.81269	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2740.83	37	chr3	46409095	.	A	G	2740.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.75;DP=880;ExcessHet=0.119;FS=11.3;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.93;ReadPosRankSum=1.35;SOR=0.272	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1347,0,1514	17	0	2	0
chr3	46438036	46438036	A	C	exonic	LTF	.	nonsynonymous SNV	LTF:NM_001199149:exon16:c.T1870G:p.C624G,LTF:NM_001321121:exon16:c.T1996G:p.C666G,LTF:NM_002343:exon16:c.T2002G:p.C668G,LTF:NM_001321122:exon19:c.T1963G:p.C655G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.438	0.0168416246501	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.28772	T	0.012	0.63918	D	0.998	0.77913	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.705	0.44259	L	3.29	0.06445	T	-10.07	0.98864	D	0.881	0.88137	-1.1921	0.00219	T	0.047	0.20077	T	10	0.8405925	0.83214	D	0.016842	0.38283	T	0.438	0.74235	0.726	0.86024	0.525664996154	0.52213	0.6559542799452452	0.65531	0.193022807787	0.21635	0.570993483067	0.48819	T	0.259248	0.63049	T	0.186819	0.72670	D	0.0305763	0.72315	D	0.998691141605377	0.94887	D	0.89491	0.63503	D	0.93723077	0.94966	0.90918726	0.95630	0.93723077	0.94966	0.90918726	0.95631	-3.865	0.25305	T	.	.	0.868	0.80734	P	.;.;.;.	.;.;.;.	4.720985	0.75937	26.4	0.98034887944037019	0.37743	0.98426	0.82655	D	AEFI	0.941267	0.94431	D	0.708283068730576	0.80175	7.23652	0.687582971387945	0.81434	7.526053	0.999998637730704	0.74766	0.516011	0.20929	0	0.59043	0.45803	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	4.95	4.95	0.64894	8.265000	0.89801	9.206000	0.79210	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	1.0:0.0:0.0:0.0	11.582	0.50153	423	0.81269	Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;.;Transferrin-like domain|Transferrin-like domain|Transferrin-like domain;Transferrin-like domain|Transferrin-like domain|Transferrin-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	.	.	.	.	.	.	.	.	0.02632	1054.33	33	chr3	46438036	.	A	C	1054.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.08;DP=718;ExcessHet=0;FS=0.764;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=0.124;SOR=0.559	GT:AD:DP:GQ:PL	0/1:56,43:99:99:1068,0,1332	18	0	1	0
chr3	53233167	53233167	C	T	exonic	TKT	.	nonsynonymous SNV	TKT:NM_001064:exon6:c.G737A:p.R246Q,TKT:NM_001135055:exon6:c.G737A:p.R246Q,TKT:NM_001258028:exon7:c.G761A:p.R254Q	Short stature, developmental delay, and congenital heart defects, Autosomal recessive	431	1065	25	1	0	27	0.0125174	.	.	.	698251	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.119	0.0146851353604	0.0032	0.00179712	0.0030	0.0010	0.0022	0	0.0002	0.0037	0.0022	0.0047	0.003053	472	154602	rs139694567	0.0043	0.0043	0.0043	0.0043	0.0099	0.0042	0.0042	0.0078	0.0071	0.0007	0.0026	0.0046	5.04e-05	0.0003	0.0099	0.0048	0.0044	0.0045	0.0028	0.0028	0.0029	0.0026	0.0041	0.0025	0.0025	0.0037	0.0035	0.0010	0	0.0031	0.0043	0.0002	0.0003	0.0068	0.0041	0.0066	0.0039	0.089	0.32141	T	0.055	0.48080	T	0.842	0.46562	P	0.253	0.39112	B	0.000001	0.62929	D	0.054326	0.999775	0.49394	D	0.76	0.19266	N	1.95	0.22474	T	-1.87	0.43717	N	0.518	0.57263	-1.1292	0.01821	T	0.029	0.12541	T	10	0.020147294	0.00459	T	0.014685	0.34971	T	0.119	0.33137	.	.	0.513674172182	0.51010	0.4065224521706497	0.40568	0.63453964438	0.57307	0.469364464283	0.34593	T	0.404	0.76037	T	-0.450405	0.01123	T	-0.418248	0.31276	T	0.0185645089946174	0.00571	T	0.985701	0.95103	D	0.37940398	0.59274	0.17648907	0.40186	0.5238036	0.68478	0.20858358	0.45165	-8.761	0.66145	D	0.2650634960635672	0.35741	0.090	0.17488	B	.;.;.;.	.;.;.;.	5.277650	0.88614	29.7	0.99869633706115868	0.94726	0.90007	0.50855	D	AEFGBHCI	0.616598	0.60310	D	0.320066418979664	0.57179	3.884338	0.443787975992137	0.64318	4.684352	0.999999999997967	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.9	5.9	0.94952	4.119000	0.57638	5.894000	0.50799	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:0.8106:0.0:0.1894	7.731	0.27951	476	0.77720	Transketolase, N-terminal;Transketolase, N-terminal;.;Transketolase, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.011078	0.020202	0.009511	0.011696	0.000000	0.000000	0.015244	0.011364	0.02632	1410.33	125	chr3	53233167	.	C	T	1410.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.47;DP=1160;ExcessHet=0;FS=2.955;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=-1.882;SOR=1.126	GT:AD:DP:GQ:PL	0/1:35,51:86:99:1424,0,777	18	0	1	0
chr3	53235012	53235012	G	T	exonic	TKT	.	nonsynonymous SNV	TKT:NM_001064:exon5:c.C600A:p.D200E,TKT:NM_001135055:exon5:c.C600A:p.D200E,TKT:NM_001258028:exon6:c.C624A:p.D208E	Short stature, developmental delay, and congenital heart defects, Autosomal recessive	435	1061	25	1	0	27	0.012564	.	.	.	698252	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.121	0.0099925915377	0.0032	0.00179712	0.0030	0.0010	0.0021	0	0.0002	0.0037	0.0022	0.0047	0.0030077	465	154602	rs150551962	0.0043	0.0043	0.0042	0.0043	0.0099	0.0042	0.0042	0.0078	0.0071	0.0007	0.0025	0.0046	5.038e-05	0.0003	0.0099	0.0048	0.0044	0.0045	0.0028	0.0028	0.0029	0.0026	0.0041	0.0025	0.0025	0.0037	0.0035	0.0010	0	0.0031	0.0043	0.0002	0.0003	0.0068	0.0041	0.0066	0.0039	0.58	0.06282	T	0.604	0.07842	T	0.0	0.02946	B	0.003	0.08700	B	0.000001	0.84330	N	0.091707	0.699474	0.33406	D	-0.74	0.01752	N	1.0	0.41392	T	-0.11	0.08653	N	0.075	0.22742	-1.0383	0.17832	T	0.022	0.09559	T	10	0.0050515532	0.00109	T	0.009993	0.25990	T	0.121	0.33580	0.591	0.71999	0.188950314367	0.18478	0.2628957130852342	0.26202	0.346780503942	0.36582	0.441164582968	0.30736	T	0.25233	0.62270	T	-0.668634	0.00056	T	-0.731718	0.04250	T	0.000775153748033776	0.00007	T	0.821518	0.48098	T	0.20183973	0.42208	0.04764035	0.06905	0.21242823	0.43594	0.052317426	0.08596	-2.769	0.11000	T	0.08845102626155471	0.05302	0.095	0.24157	B	.;.;.;.	.;.;.;.	-0.594179	0.01588	0.107	0.52132479713537527	0.04690	0.24686	0.22470	N	AEFGBHCI	0.270188	0.38630	N	-1.78220852389748	0.00590	0.02542901	-1.80306897735056	0.00749	0.03340434	0.999999998898184	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.47	-8.32	0.00873	-1.110000	0.03417	-2.744000	0.03406	-0.712000	0.03928	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.5047:0.0729:0.2492:0.1733	3.486	0.07182	479	0.77495	Transketolase, N-terminal;Transketolase, N-terminal;.;Transketolase, 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	1	0	0.010595	0.020202	0.009511	0.011696	0.000000	0.000000	0.015337	0.007634	0.02632	1594.33	33	chr3	53235012	.	G	T	1594.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.084;DP=778;ExcessHet=0;FS=5.874;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.29;ReadPosRankSum=0.177;SOR=0.74	GT:AD:DP:GQ:PL	0/1:89,66:155:99:1608,0,2314	18	0	1	0
chr3	57198277	57198277	G	A	exonic	HESX1	.	nonsynonymous SNV	HESX1:NM_003865:exon4:c.C478T:p.R160C,HESX1:NM_001376059:exon6:c.C478T:p.R160C,HESX1:NM_001376060:exon6:c.C478T:p.R160C,HESX1:NM_001376061:exon6:c.C478T:p.R160C,HESX1:NM_001376058:exon7:c.C478T:p.R160C	Growth hormone deficiency with pituitary anomalies, Autosomal recessive, Autosomal dominant;Pituitary hormone deficiency, combined, 5, Autosomal recessive, Autosomal dominant;Septooptic dysplasia, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	22730	GROWTH_HORMONE_DEFICIENCY_WITH_PITUITARY_ANOMALIES|Septo-optic_dysplasia_sequence	MedGen:C2750027|Human_Phenotype_Ontology:HP:0100842,MONDO:MONDO:0008428,MedGen:C0338503,OMIM:182230,Orphanet:3157	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	0.912	0.7185837252	.	.	8.292e-06	0	0	0	0	1.506e-05	0	0	6.5e-06	1	154602	rs28936702	1.849e-05	1.915e-05	1.635e-05	2.065e-05	3.483e-05	1.266e-05	1.085e-05	1.296e-05	1.107e-05	0	0	3.83e-05	0	0	0	1.98e-05	1.658e-05	3.483e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	A	4.12	0.97420	H	-5.73	0.99303	D	-7.53	0.95131	D	0.807	0.80278	0.895	0.95608	D	0.993	0.99830	D	9	0.990981	0.99615	D	0.718584	0.97721	D	0.912	0.97662	0.975	0.99766	0.996147397946	0.99610	0.9106944834585501	0.91043	0.412041259716	0.41953	0.709908723831	0.68580	T	0.963952	0.99555	D	0.543851	0.95526	D	0.558914	0.95934	D	0.999748647212982	0.98780	D	0.994301	0.98122	D	0.9269811	0.93935	0.8542323	0.91789	0.9364005	0.94882	0.91244334	0.95863	-12.255	0.86071	D	0.9023530054800712	0.95335	0.978	0.91023	P	.;.;.	.;.;.	5.223516	0.87673	29.3	0.99914671999741123	0.98309	0.86840	0.46210	D	AEFBI	0.701049	0.65786	D	1.10222209724316	0.98175	17.60258	0.951438426263697	0.97446	16.14431	0.999999978199531	0.74766	0.608746	0.35421	0	0.633656	0.55848	0	0.731467	0.93227	0	0.444512	0.06955	0	.	.	5.25	5.25	0.73169	5.817000	0.68907	11.803000	0.96709	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.217	0.93770	436	0.80373	Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox, conserved site|Homeobox domain|Homeobox domain|Homeobox domain;Homeobox domain|Homeobox domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2169.83	33	chr3	57198277	.	G	A	2169.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.9;DP=758;ExcessHet=0.119;FS=3.392;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.287;SOR=0.74	GT:AD:DP:GQ:PL	0/1:41,35:76:99:781,0,986	17	0	2	0
chr3	75730451	75730451	T	G	exonic	ZNF717	.	stoploss	ZNF717:NM_001324027:exon7:c.A2396C:p.X799S	.	432	314	768	8	0	784	0.555241	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000461	12	26028	rs75952318	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	47576.4	207	chr3	75730451	.	T	G	47576.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.127;DP=2663;ExcessHet=48.2876;FS=6.146;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.47;MQRankSum=-6.987;QD=18.24;ReadPosRankSum=0.373;SOR=0.4	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,89:137:99:0|1:75730450_C_T:3572,0,1748:75730450	0	0	19	0
chr3	75730611	75730611	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001324027:exon7:c.C2236A:p.L746I	.	434	899	189	0	0	189	0.0951183	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0330413	860	26028	rs73841587	5.455e-06	4.771e-06	3.964e-06	6.718e-06	9.364e-05	1.45e-06	4e-07	2.481e-05	1.287e-05	0	0	0	9.364e-05	0	0	0	0	0	6.571e-06	6.567e-06	0	1.345e-05	.	0	0	.	.	0	0	0	0	0	9.418e-05	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	1826.72	112	chr3	75730611	.	G	T	1826.72	.	AC=11;AF=0.289;AN=38;BaseQRankSum=0.712;DP=1498;ExcessHet=8.9063;FS=32.245;InbreedingCoeff=-0.4111;MLEAC=11;MLEAF=0.289;MQ=56.36;MQRankSum=-6.363;QD=2.05;ReadPosRankSum=-2.834;SOR=8.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,10:62:99:0|1:75730611_G_T:203,0,2079:75730611	8	0	11	0
chr3	75736884	75736884	-	A	exonic	ZNF717	.	stoploss	ZNF717:NM_001128223:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290208:exon5:c.2738dupT:p.*915delinsLNTQPTPLWLLLQISPCSV*,ZNF717:NM_001290209:exon5:c.2588dupT:p.*865delinsLNTQPTPLWLLLQISPCSV*	.	408	790	324	0	0	324	0.170168	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0673505	1753	26028	rs149076283	2.008e-05	1.984e-05	1.697e-05	2.328e-05	2.801e-05	1.393e-05	1.199e-05	1.594e-05	1.347e-05	0	0	0	2.801e-05	0	0	2.322e-05	1.729e-05	1.281e-05	1.313e-05	1.312e-05	2.569e-05	0	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10260.0	245	chr3	75736884	.	G	GA	10260.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.122;DP=2735;ExcessHet=25.4433;FS=3.097;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=56.86;MQRankSum=-7.226;QD=4.72;ReadPosRankSum=0.758;SOR=0.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:78,41:119:99:0|1:75736884_G_GA:1472,0,3152:75736884	3	0	16	0
chr3	75736891	75736891	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2732T:p.S911F,ZNF717:NM_001290208:exon5:c.C2732T:p.S911F,ZNF717:NM_001290209:exon5:c.C2582T:p.S861F	.	413	564	544	0	1	545	0.325359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00165921998894	.	.	.	.	.	.	.	.	.	.	0.0107192	279	26028	rs77747132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	-1.16	0.29727	N	0.094	0.07398	-0.9320	0.43844	T	0.010	0.03856	T	9	0.06138295	0.07688	T	0.001659	0.02728	T	0.061	0.17616	.	.	0.0138822411134	0.00435	0.004917126878572224	0.00463	.	.	0.422835052013	0.28227	T	.	.	.	-0.173524	0.24704	T	-0.487032	0.23703	T	0.330072145045039	0.26228	T	0.353565	0.07967	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	0.36732	B	.	.	1.343956	0.17510	13.20	0.99194171637765427	0.55083	0.00118	0.00744	N	AEFDBCI	0.022343	0.01105	N	-1.23987897260233	0.04434	0.2001198	-1.31939943106607	0.04180	0.1966005	0.999947639461096	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.54	-0.734	0.10579	-0.650000	0.05477	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.3382:0.0:0.6618:0.0	5.509	0.16158	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	27506.3	251	chr3	75736891	.	G	A	27506.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.556;DP=2799;ExcessHet=38.2876;FS=3.537;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=56.93;MQRankSum=-8.927;QD=10.38;ReadPosRankSum=0.96;SOR=0.485	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,41:127:99:0|1:75736884_G_GA:1448,0,3488:75736884	1	0	18	0
chr3	75736920	75736920	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2703T:p.E901D,ZNF717:NM_001290208:exon5:c.G2703T:p.E901D,ZNF717:NM_001290209:exon5:c.G2553T:p.E851D	.	404	577	541	0	0	541	0.319174	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.00110452594305	.	.	.	.	.	.	.	.	.	.	0.071231	1854	26028	rs111230396	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.062	0.45318	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.23	0.06931	T	-1.02	0.26843	N	0.085	0.06190	-0.9483	0.41263	T	0.010	0.03627	T	9	0.058318764	0.06838	T	0.001105	0.01312	T	0.103	0.29403	.	.	0.0138822411134	0.00435	0.0015786287646668746	0.00145	.	.	0.445909142494	0.31386	T	.	.	.	-0.17615	0.24310	T	-0.490804	0.23306	T	0.0638085464059829	0.07754	T	0.121888	0.00944	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.23500	B	.	.	0.610910	0.09792	6.559	0.89825184067637265	0.19134	0.00196	0.01131	N	AEFDBCI	0.022523	0.01136	N	-1.22540343885655	0.04634	0.2095599	-1.32633955667091	0.04093	0.1923357	0.999959091878699	0.48110	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	0.741	-0.249	0.12368	1.331000	0.33398	.	.	0.482000	0.22156	0.001000	0.13787	0.000000	0.08366	0.002000	0.04165	0.0:0.6566:0.0:0.3434	3.115	0.05989	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25918.3	252	chr3	75736920	.	C	A	25918.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.21;DP=2877;ExcessHet=38.2876;FS=2.773;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=55.14;MQRankSum=-8.054;QD=9.41;ReadPosRankSum=0.484;SOR=0.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,34:129:99:0|1:75736884_G_GA:1142,0,3887:75736884	1	0	18	0
chr3	75736928	75736928	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2695A:p.V899I,ZNF717:NM_001290208:exon5:c.G2695A:p.V899I,ZNF717:NM_001290209:exon5:c.G2545A:p.V849I	.	411	571	539	1	0	541	0.32145	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.00121036639884	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs74593105	0.0001	0.0002	0.0001	0.0001	0.0026	0.0001	0.0001	0.0016	0.0013	0.0008	8.267e-05	0	8.274e-05	0	0.0026	8.845e-05	0.0003	0.0004	0.0003	0.0003	0.0002	0.0003	0.0006	0.0002	0.0002	0.0004	0.0004	0.0006	0	0	0	0	0	0	0.0001	0	0.0006	0.38	0.11191	T	0.025	0.56192	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.32	0.06214	T	0.07	0.06138	N	0.026	0.00527	-0.9474	0.41414	T	0.008	0.02926	T	9	0.09491852	0.16914	T	0.00121	0.01583	T	0.112	0.31546	.	.	0.0138822411134	0.00435	7.206520044993825E-4	0.00066	.	.	0.389449685812	0.23592	T	.	.	.	-0.217344	0.18358	T	-0.549976	0.17329	T	0.104380803558879	0.12832	T	0.0709929	0.00518	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.08948	B	.	.	0.653467	0.10217	6.957	0.91771767316116259	0.21074	0.00105	0.00673	N	AEFDBCI	0.020476	0.00813	N	-1.22446334774296	0.04648	0.2101895	-1.31163951798627	0.04279	0.2014874	0.999941810098761	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.634913	0.45138	1	0.264475	0.05362	3	.	.	1.29	0.364	0.15359	-0.265000	0.08671	.	.	0.482000	0.22156	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.7401:0.0:0.2599	3.729	0.08012	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	25991.3	253	chr3	75736928	.	C	T	25991.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=2.3;DP=2931;ExcessHet=38.2876;FS=1.988;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.62;MQRankSum=-7.88;QD=9.33;ReadPosRankSum=-0.059;SOR=0.707	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,32:126:99:0|1:75736884_G_GA:1061,0,3851:75736884	1	0	18	0
chr3	75736981	75736981	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290208:exon5:c.A2642G:p.Q881R,ZNF717:NM_001290209:exon5:c.A2492G:p.Q831R	.	394	765	361	2	0	365	0.192612	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4444	14961.5	225	chr3	75736981	.	T	C	14961.5	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-1.026;DP=2892;ExcessHet=25.4433;FS=1.222;InbreedingCoeff=-0.7673;MLEAC=17;MLEAF=0.472;MQ=52.48;MQRankSum=-7.191;QD=6.18;ReadPosRankSum=-1.421;SOR=0.789	GT:AD:DP:GQ:PL	0/1:82,44:126:99:1102,0,2368	2	0	16	1
chr3	75737012	75737012	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2611A:p.E871K,ZNF717:NM_001290208:exon5:c.G2611A:p.E871K,ZNF717:NM_001290209:exon5:c.G2461A:p.E821K	.	386	662	466	8	0	482	0.266888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0010545400782	.	.	.	.	.	.	.	.	.	.	0.0444521	1157	26028	rs75096310	0	6.841e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.934	0.02228	T	0.289	0.21078	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.16	0.19166	T	-0.66	0.19085	N	0.072	0.04547	-0.9570	0.39735	T	0.015	0.05946	T	9	0.029257268	0.01053	T	0.001055	0.01191	T	0.117	0.32689	.	.	0.0138822411134	0.00435	0.0019455304358727955	0.00180	.	.	0.341237813234	0.16623	T	.	.	.	-0.238107	0.15590	T	-0.5798	0.14563	T	0.0632113878371354	0.07664	T	0.059894	0.00434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.26200	B	.	.	1.575632	0.20165	14.62	0.84215655419281732	0.15163	0.00232	0.01297	N	AEFDBHCI	0.027833	0.02344	N	-1.41055986614139	0.02545	0.1125291	-1.43935631045541	0.02868	0.1327212	0.999943869570154	0.47345	0.562547	0.31514	0	0.653731	0.59785	0	0.517114	0.09559	2	0.756233	0.99697	0	.	.	1.92	-0.00832	0.13329	-3.006000	0.00714	.	.	-1.281000	0.01268	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2577:0.4021:0.0:0.3403	2.041	0.03335	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	20724.0	217	chr3	75737012	.	C	T	20724.0	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-0.958;DP=3072;ExcessHet=31.086;FS=0.559;InbreedingCoeff=-0.8551;MLEAC=18;MLEAF=0.5;MQ=53.49;MQRankSum=-5.15;QD=7.81;ReadPosRankSum=-0.189;SOR=0.705	GT:AD:DP:GQ:PL	0/1:89,76:165:99:1901,0,2533	1	0	17	1
chr3	75737060	75737060	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2563C:p.S855P,ZNF717:NM_001290208:exon5:c.T2563C:p.S855P,ZNF717:NM_001290209:exon5:c.T2413C:p.S805P	.	379	596	534	13	0	560	0.319635	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.000628152010991	.	.	.	.	.	.	.	.	.	.	0.0548256	1427	26028	rs77715040	8.282e-06	8.895e-06	4.114e-06	1.25e-05	1.183e-05	4.42e-06	3.49e-06	5.34e-06	3.9e-06	0	0	0	0	0	0	9.948e-06	0	1.183e-05	1.314e-05	1.313e-05	1.284e-05	1.345e-05	2.939e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.939e-05	0	0	0.013	0.53900	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.15	0.07820	T	-3.1	0.63554	D	0.116	0.10483	-1.0427	0.16503	T	0.033	0.14029	T	9	0.09637886	0.17284	T	6.28E-4	0.00319	T	0.160	0.41473	.	.	0.0138822411134	0.00435	0.009052444588593512	0.00868	.	.	0.566062688828	0.48122	T	.	.	.	-0.167764	0.25573	T	-0.478758	0.24578	T	0.297621607780457	0.24905	T	0.79872	0.44372	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.550	0.66781	A	.	.	2.370076	0.30412	18.43	0.98191942080542327	0.39045	0.00784	0.03216	N	AEFDBHCI	0.085768	0.17389	N	-0.771083796564405	0.14068	0.6978022	-0.955324100233036	0.10800	0.5462925	0.999957637849619	0.48110	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	-2.936000	0.00751	.	.	0.610000	0.48991	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	1.0:0.0:0.0:0.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	30914.3	256	chr3	75737060	.	A	G	30914.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.825;DP=3492;ExcessHet=48.2876;FS=0.535;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.88;MQRankSum=-5.378;QD=9.11;ReadPosRankSum=0.644;SOR=0.759	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:87,108:195:99:.:.:2434,0,2252:.	0	0	19	0
chr3	75737092	75737092	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290208:exon5:c.G2531A:p.C844Y,ZNF717:NM_001290209:exon5:c.G2381A:p.C794Y	.	382	490	638	12	0	662	0.403167	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.402	0.00342039862449	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs139633377	6.975e-07	1.369e-06	1.383e-06	0	9.107e-07	0	0	.	.	0	0	0	0	0	0	9.107e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.015	0.61642	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-1.94	0.84919	D	-7.52	0.95102	D	0.208	0.23125	-0.0500	0.81206	T	0.770	0.92171	D	9	0.30394778	0.47923	T	0.00342	0.07694	T	0.402	0.71558	.	.	0.578941962908	0.57563	0.02342305612139971	0.02294	.	.	0.721298933029	0.70236	T	.	.	.	0.128852	0.67249	D	-0.0526902	0.66838	D	0.914417432390081	0.57105	D	0.80432	0.45191	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.889	0.82003	P	.	.	2.732693	0.35776	19.99	0.91222742361264963	0.20479	0.19094	0.20525	N	AEFDBHCI	0.116885	0.22922	N	0.127215796981728	0.47735	2.995096	-0.201159305983142	0.31494	1.782947	0.999998666164745	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	0.518	0.16228	4.030000	0.56971	.	.	0.487000	0.22268	0.993000	0.37899	0.000000	0.08366	0.025000	0.12405	0.0:0.7965:0.0:0.2035	5.69	0.17097	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52412.4	280	chr3	75737092	.	C	T	52412.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.868;DP=3617;ExcessHet=48.2876;FS=2.51;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.44;MQRankSum=-8.725;QD=14.68;ReadPosRankSum=2.04;SOR=0.912	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,121:214:99:0|1:75737092_C_T:4734,0,3471:75737092	0	0	19	0
chr3	75737094	75737094	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2529T:p.R843S,ZNF717:NM_001290208:exon5:c.A2529T:p.R843S,ZNF717:NM_001290209:exon5:c.A2379T:p.R793S	.	386	488	636	12	0	660	0.403423	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	0.00139168871644	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149660902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.487	0.08067	T	0.021	0.58089	D	.	.	.	.	.	.	.	.	.	.	1	0.29002	N	.	.	.	2.5	0.14408	T	0.12	0.05604	N	0.171	0.18239	-0.9656	0.38092	T	0.015	0.05849	T	9	0.041348934	0.02782	T	0.001392	0.02037	T	0.187	0.46274	.	.	0.0138822411134	0.00435	0.003970010212323737	0.00371	.	.	0.350422680378	0.17984	T	.	.	.	-0.230087	0.16639	T	-0.568281	0.15607	T	0.0363333960522166	0.03039	T	0.50295	0.15803	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.364	0.57473	A	.	.	0.927565	0.13027	9.531	0.78772853777929608	0.12446	0.00288	0.01547	N	AEFDBHCI	0.032938	0.03815	N	-1.56864543804847	0.01428	0.06230873	-1.65490256639135	0.01351	0.06097677	0.999968767302643	0.48965	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.46	-1.65	0.07849	-1.617000	0.02154	.	.	-1.209000	0.01353	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2432:0.1819:0.2457:0.3291	0.098	0.00042	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	52218.4	279	chr3	75737094	.	T	A	52218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.675;DP=3606;ExcessHet=48.2876;FS=2.513;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.56;MQRankSum=-8.714;QD=14.56;ReadPosRankSum=1.95;SOR=0.923	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,122:215:99:0|1:75737092_C_T:4775,0,3468:75737092	0	0	19	0
chr3	75737105	75737105	T	A	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.A2518T:p.K840X,ZNF717:NM_001290208:exon5:c.A2518T:p.K840X,ZNF717:NM_001290209:exon5:c.A2368T:p.K790X	.	386	483	643	10	0	663	0.406998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0502536	1308	26028	rs113251431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.032	0.00825	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.648710	0.92795	33	0.9890268774789388	0.48217	0.46426	0.27757	N	AEFDBHCI	0.042646	0.06644	N	0.188175099212538	0.50632	3.251287	-0.154561253355241	0.33234	1.898897	0.999999961661622	0.74766	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.59	1.59	0.22622	3.121000	0.50131	.	.	0.539000	0.25131	1.000000	0.71638	0.000000	0.08366	0.011000	0.09372	0.0:0.0:0.0:1.0	7.316	0.25675	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	51218.4	275	chr3	75737105	.	T	A	51218.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-3.193;DP=3583;ExcessHet=48.2876;FS=3.337;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=55.97;MQRankSum=-9.931;QD=14.38;ReadPosRankSum=1.42;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:89,117:206:99:0|1:75737092_C_T:4645,0,3385:75737092	0	0	19	0
chr3	75737127	75737127	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290208:exon5:c.T2496G:p.H832Q,ZNF717:NM_001290209:exon5:c.T2346G:p.H782Q	.	384	545	585	8	0	601	0.355411	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.462	0.0028455442474	.	.	.	.	.	.	.	.	.	.	0.064008	1666	26028	rs79811623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-5.94	0.89093	D	0.203	0.22486	0.069	0.83596	D	0.747	0.91362	D	9	0.25438643	0.42818	T	0.002846	0.05956	T	0.462	0.75889	.	.	0.358340041657	0.35441	0.0053718602075851244	0.00508	.	.	0.740122795105	0.72990	T	.	.	.	0.0996688	0.64257	D	-0.0946091	0.63811	T	0.721620917320251	0.41781	D	0.784422	0.42203	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.946	0.86443	P	.	.	1.863242	0.23667	16.11	0.75650377613460507	0.11157	0.04138	0.09621	N	AEFDBHCI	0.080253	0.16223	N	-0.306900910275906	0.28885	1.597038	-0.631394962146373	0.18688	0.9994579	0.99995045990878	0.48110	0.632932	0.41330	0	0.666794	0.63253	0	0.002978	0.00130	3	0.756233	0.99697	0	.	.	1.59	0.372	0.15405	0.061000	0.14242	.	.	0.575000	0.29119	0.037000	0.20830	0.000000	0.08366	0.001000	0.02609	0.8077:0.0:0.1923:0.0	4.797	0.12647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	45019.4	258	chr3	75737127	.	A	C	45019.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.02;DP=3367;ExcessHet=48.2876;FS=6.221;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.5;MQRankSum=-10.9;QD=13.47;ReadPosRankSum=1.25;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,107:194:99:0|1:75737092_C_T:4231,0,3331:75737092	0	0	19	0
chr3	75737164	75737172	CTACATTCT	-	exonic	ZNF717	.	nonframeshift deletion	ZNF717:NM_001128223:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290208:exon5:c.2451_2459del:p.E818_R820del,ZNF717:NM_001290209:exon5:c.2301_2309del:p.E768_R770del	.	392	660	463	7	0	477	0.265442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012256	319	26028	rs66703079	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	28213.3	184	chr3	75737163	.	CCTACATTCT	C	28213.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.052;DP=2750;ExcessHet=48.2876;FS=12.118;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.71;MQRankSum=-10.76;QD=10.38;ReadPosRankSum=-0.785;SOR=1.489	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:82,63:145:99:0|1:75737092_C_T:2399,0,3225:75737092	0	0	19	0
chr3	75737228	75737228	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2395G:p.T799A,ZNF717:NM_001290208:exon5:c.A2395G:p.T799A,ZNF717:NM_001290209:exon5:c.A2245G:p.T749A	.	388	1009	125	0	0	125	0.0583294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.00065624303644	.	.	.	.	.	.	.	.	.	.	0.161595	4206	26028	rs80170761	1.428e-06	1.368e-06	1.409e-06	1.447e-06	1.852e-06	2.4e-07	9e-08	3.1e-07	1.2e-07	0	0	0	0	0	0	1.852e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.475	0.08359	T	0.182	0.29249	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.5	0.14408	T	-0.37	0.13226	N	0.031	0.00770	-0.9782	0.35413	T	0.017	0.07092	T	9	0.04005146	0.02542	T	6.56E-4	0.00350	T	0.015	0.02232	.	.	0.0138822411134	0.00435	0.0025070030530107983	0.00232	.	.	0.570732712746	0.48781	T	.	.	.	-0.29288	0.09349	T	-0.658479	0.08369	T	0.0214846075820914	0.00852	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.17189	B	.	.	0.201526	0.05865	2.303	0.46300880358559965	0.03698	0.00280	0.01512	N	AEFDBHCI	0.025509	0.01757	N	-1.44896954151032	0.02225	0.09801469	-1.50829558445683	0.02280	0.1046078	0.999662543695307	0.41534	0.69289	0.55638	0	0.78372	0.99691	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	1.79	0.509	0.16177	-3.477000	0.00510	.	.	-0.233000	0.07663	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.4406:0.0:0.0:0.5593	4.801	0.12662	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	2269.04	121	chr3	75737228	.	T	C	2269.04	.	AC=12;AF=0.316;AN=38;BaseQRankSum=2.66;DP=2050;ExcessHet=11.1788;FS=19.091;InbreedingCoeff=-0.4377;MLEAC=11;MLEAF=0.289;MQ=57.49;MQRankSum=-8.916;QD=1.88;ReadPosRankSum=-2.183;SOR=2.321	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,14:88:99:0|1:75737228_T_C:241,0,3054:75737228	7	0	12	0
chr3	75737519	75737519	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C2104T:p.P702S,ZNF717:NM_001290208:exon5:c.C2104T:p.P702S,ZNF717:NM_001290209:exon5:c.C1954T:p.P652S,ZNF717:NM_001324027:exon5:c.C2104T:p.P702S	.	378	414	722	8	0	738	0.471264	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.231	0.0020371222204	.	.	.	.	.	.	.	.	.	.	0.0847549	2206	26028	rs80089603	0.0009	0.0009	0.0010	0.0008	0.0241	0.0009	0.0009	0.0227	0.0221	0.0241	0.0014	0.0065	0.0009	0	0.0016	6.293e-05	0.0031	0.0001	0.0071	0.0074	0.0072	0.0070	0.0235	0.0067	0.0066	0.0223	0.0218	0.0235	0	0.0024	0.0084	0.0025	0	0.0034	4.409e-05	0.0071	0.0006	0.014	0.53172	D	0.014	0.62352	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.28	0.06523	T	-2.65	0.56787	D	0.082	0.05799	-0.9616	0.38877	T	0.011	0.04274	T	9	0.0059270263	0.00133	T	0.002037	0.03721	T	0.231	0.53208	.	.	0.0297737177859	0.01360	0.030845822720570865	0.03033	.	.	0.227284103632	0.01773	T	.	.	.	-0.138909	0.30065	T	-0.437309	0.29111	T	0.612736403942108	0.36911	D	0.140186	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.121	0.25166	B	.	.	2.134754	0.27180	17.37	0.9793642767632269	0.36999	0.50764	0.28739	D	AEFDBHCI	0.281183	0.39482	N	-0.656716686745216	0.17265	0.8869353	-0.759493038371137	0.15489	0.8148735	0.999998040796218	0.74766	0.460665	0.09802	0	0.601575	0.49859	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.27	0.281	0.14938	5.209000	0.65041	.	.	0.560000	0.28382	1.000000	0.71638	0.000000	0.08366	0.002000	0.04165	0.0:0.0:0.7085:0.2915	6.406	0.20867	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	72208.4	197	chr3	75737519	.	G	A	72208.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=0.695;DP=3883;ExcessHet=48.2876;FS=4.051;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.16;MQRankSum=-6.49;QD=19.68;ReadPosRankSum=0.126;SOR=0.729	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,159:236:99:0|1:75737519_G_A:6289,0,2658:75737519	0	0	19	0
chr3	75737590	75737590	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T2033C:p.M678T,ZNF717:NM_001290208:exon5:c.T2033C:p.M678T,ZNF717:NM_001290209:exon5:c.T1883C:p.M628T,ZNF717:NM_001324027:exon5:c.T2033C:p.M678T	.	380	344	789	9	0	807	0.539799	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.000918803670254	.	.	.	.	.	.	.	.	.	.	0.0043031	112	26028	rs79103664	2.155e-06	3.424e-06	1.417e-06	2.914e-06	1.862e-06	5.7e-07	1.6e-07	3.1e-07	1.2e-07	0	0	0	0	0	0	1.862e-06	1.736e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.577	0.06049	T	0.136	0.34009	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.17	0.07599	T	0.82	0.01813	N	0.035	0.01004	-0.9135	0.46415	T	0.010	0.03492	T	9	0.047419846	0.04058	T	9.19E-4	0.00889	T	0.064	0.18567	.	.	0.0138822411134	0.00435	0.020703910282481648	0.02023	.	.	0.269451141357	0.06069	T	.	.	.	-0.256687	0.13292	T	-0.606489	0.12271	T	0.0260274478999564	0.01409	T	0.0606939	0.00442	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.30634	B	.	.	-0.571595	0.01651	0.116	0.41969334367691202	0.03062	0.00342	0.01773	N	AEFDBHCI	0.055927	0.10297	N	-1.5270329997039	0.01674	0.07322606	-1.61933844482173	0.01542	0.06986147	0.999968620109732	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-2.35	0.06302	-4.932000	0.00197	.	.	-1.902000	0.00523	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.5391:0.0:0.0:0.4609	5.111	0.14145	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	80980.4	254	chr3	75737590	.	A	G	80980.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.318;DP=4255;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.17;MQRankSum=-12.03;QD=19.35;ReadPosRankSum=0.753;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,191:286:99:0|1:75737586_A_T:7716,0,3414:75737586	0	0	19	0
chr3	75737608	75737608	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2015G:p.K672R,ZNF717:NM_001290208:exon5:c.A2015G:p.K672R,ZNF717:NM_001290209:exon5:c.A1865G:p.K622R,ZNF717:NM_001324027:exon5:c.A2015G:p.K672R	.	399	323	791	9	0	809	0.556014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.003971670348	.	.	.	.	.	.	.	.	.	.	0.0466805	1215	26028	rs75759940	4.311e-06	4.109e-06	2.835e-06	5.828e-06	5.588e-06	1.55e-06	1.02e-06	2.01e-06	1.32e-06	0	0	0	0	0	0	5.588e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.46513	D	0.001	0.83351	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	3.16	0.07711	T	-0.9	0.24244	N	0.034	0.00942	-0.9500	0.40972	T	0.008	0.02926	T	9	0.049818516	0.04624	T	0.003972	0.09400	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.005655336952012324	0.00535	.	.	0.307848095894	0.11582	T	.	.	.	-0.255831	0.13391	T	-0.60526	0.12373	T	0.0589383841193725	0.07000	T	0.19898	0.02226	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.13268	B	.	.	1.223152	0.16170	12.37	0.86139736186920213	0.16339	0.00629	0.02767	N	AEDBHCI	0.051131	0.09005	N	-1.64554763938136	0.01054	0.04572823	-1.67922087383407	0.01232	0.05551315	0.99998526063166	0.51787	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.57	-3.14	0.04928	-0.248000	0.08872	.	.	-1.039000	0.01670	0.792000	0.29619	0.000000	0.08366	0.001000	0.02609	0.0:0.4304:0.3244:0.2451	4.750	0.12430	987	0.02648	Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	87211.4	273	chr3	75737608	.	T	C	87211.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.532;DP=4453;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=52.93;MQRankSum=-13.33;QD=19.71;ReadPosRankSum=0.507;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,199:296:99:0|1:75737586_A_T:8064,0,3474:75737586	0	0	19	0
chr3	75737622	75737622	T	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A2001T:p.R667S,ZNF717:NM_001290208:exon5:c.A2001T:p.R667S,ZNF717:NM_001290209:exon5:c.A1851T:p.R617S,ZNF717:NM_001324027:exon5:c.A2001T:p.R667S	.	390	339	783	10	0	803	0.542201	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.00187641351265	.	.	.	.	.	.	.	.	.	.	0.0503688	1311	26028	rs76175438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.042	0.50226	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	2.96	0.09542	T	-3.88	0.72710	D	0.189	0.20660	-1.0544	0.13198	T	0.045	0.19478	T	9	0.11718443	0.22126	T	0.001876	0.03272	T	0.148	0.39182	.	.	0.0138822411134	0.00435	0.02830632002622666	0.02780	.	.	0.34867143631	0.17727	T	.	.	.	-0.180088	0.23722	T	-0.496461	0.22715	T	0.343506299687112	0.26762	T	0.413359	0.10763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.582	0.68127	P	.	.	2.295364	0.29365	18.10	0.84579906210778943	0.15375	0.01716	0.05441	N	AEFDBHCI	0.093535	0.18923	N	-0.671626443351997	0.16833	0.8611102	-0.960126716317775	0.10688	0.5399544	0.999967844770143	0.48965	0.475973	0.10046	0	0.601575	0.49859	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.71	0.405	0.15579	-1.876000	0.01725	.	.	0.551000	0.28136	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.2583:0.0:0.0:0.7417	5.213	0.14647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	89860.4	289	chr3	75737622	.	T	A	89860.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-2.61;DP=4598;ExcessHet=48.2876;FS=0.515;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=53.36;MQRankSum=-13.02;QD=19.7;ReadPosRankSum=-0.634;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,209:303:99:0|1:75737586_A_T:8493,0,3318:75737586	0	0	19	0
chr3	75737651	75737651	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1972T:p.R658C,ZNF717:NM_001290208:exon5:c.C1972T:p.R658C,ZNF717:NM_001290209:exon5:c.C1822T:p.R608C,ZNF717:NM_001324027:exon5:c.C1972T:p.R658C	.	400	343	772	7	0	786	0.533967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.00153184105349	.	.	.	.	.	.	.	.	.	.	0.0285462	743	26028	rs77826574	6.031e-05	7.327e-05	6.658e-05	5.386e-05	0.0004	4.978e-05	4.582e-05	9.298e-05	6.561e-05	3.182e-05	0.0002	0	5.661e-05	0	0.0004	5.584e-05	0.0001	7.603e-05	5.383e-05	7.906e-05	6.569e-05	4.138e-05	0.0002	2.611e-05	1.869e-05	1.982e-05	1.131e-05	5.043e-05	0	6.658e-05	0	0	0	0	5.922e-05	0	0.0002	0.067	0.35918	T	0.169	0.30534	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	5.42	0.00999	T	-3.07	0.63207	D	0.105	0.08925	-0.8711	0.50446	T	0.003	0.01026	T	9	0.085398704	0.14414	T	0.001532	0.02394	T	0.133	0.36157	.	.	0.0482279557977	0.04254	0.024591376914232316	0.02410	.	.	0.41199272871	0.26732	T	.	.	.	-0.203544	0.20296	T	-0.530154	0.19270	T	0.177544683043135	0.19078	T	0.0464954	0.00331	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.47195	B	.	.	1.962068	0.24926	16.58	0.86866792728357911	0.16827	0.00357	0.01833	N	AEFDBHCI	0.053804	0.09728	N	-0.680381306712077	0.16582	0.8460908	-0.915126681668579	0.11737	0.5997874	0.999961843561367	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	0.774	0.17665	-0.426000	0.07076	.	.	-0.244000	0.07312	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.185:0.0:0.5297:0.2853	2.500	0.04348	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	88261.4	293	chr3	75737651	.	G	A	88261.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.6;DP=4568;ExcessHet=48.2876;FS=0.521;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.19;MQRankSum=-11.6;QD=19.54;ReadPosRankSum=-0.826;SOR=0.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,207:292:99:0|1:75737586_A_T:8436,0,2946:75737586	0	0	19	0
chr3	75737676	75737676	A	T	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.T1947A:p.C649X,ZNF717:NM_001290208:exon5:c.T1947A:p.C649X,ZNF717:NM_001290209:exon5:c.T1797A:p.C599X,ZNF717:NM_001324027:exon5:c.T1947A:p.C649X	.	512	238	765	7	0	779	0.620717	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0560934	1460	26028	rs79635065	0	6.854e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.025	0.00485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356406	0.86974	D	0.274176	0.86805	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.913720	0.80871	27.4	0.97584058415749686	0.34753	0.02032	0.06091	N	AEFDBHCI	0.117194	0.22969	N	-0.0787027714682291	0.38328	2.243117	-0.47253526279424	0.22914	1.246949	0.999961225158915	0.48965	0.460665	0.09802	0	0.546412	0.12157	0	0.575934	0.27490	0	0.756233	0.99697	0	.	.	1.71	1.71	0.23429	0.625000	0.24171	.	.	0.517000	0.23534	0.432000	0.26424	0.000000	0.08366	0.002000	0.04165	0.6786:0.0:0.0:0.3214	3.984	0.08997	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	82829.4	287	chr3	75737676	.	A	T	82829.4	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.8;DP=4351;ExcessHet=48.2876;FS=2.445;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=54.86;MQRankSum=-9.984;QD=19.33;ReadPosRankSum=0.013;SOR=0.552	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,177:249:99:0|1:75737586_A_T:7215,0,2490:75737586	0	0	19	0
chr3	75737840	75737840	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1783A:p.E595K,ZNF717:NM_001290208:exon5:c.G1783A:p.E595K,ZNF717:NM_001290209:exon5:c.G1633A:p.E545K,ZNF717:NM_001324027:exon5:c.G1783A:p.E595K	.	370	419	727	6	0	739	0.468611	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.000881827712362	.	.	.	.	.	.	.	.	.	.	0.0177117	461	26028	rs76496075	2.859e-06	4.104e-06	4.231e-06	1.449e-06	3.707e-06	6.7e-07	4.5e-07	8.7e-07	5.9e-07	0	0	0	0	0	0	3.707e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.30656	T	0.022	0.57587	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.3	0.51157	N	0.164	0.17278	-1.0162	0.24948	T	0.024	0.10058	T	9	0.10873449	0.20253	T	8.82E-4	0.00800	T	0.063	0.18251	.	.	0.0138822411134	0.00435	0.00774685412423065	0.00739	.	.	0.43924510479	0.30473	T	.	.	.	-0.112376	0.34376	T	-0.399197	0.33477	T	0.387678323599846	0.28476	T	0.0947905	0.00704	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.41357	B	.	.	1.271536	0.16702	12.71	0.99193801633277179	0.55053	0.00456	0.02204	N	AEFDBHCI	0.032518	0.03688	N	-0.56728006039535	0.19945	1.047804	-0.791629829841235	0.14701	0.7694518	0.999948745414493	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.473483	0.07196	2	0.0	0.00009	3	.	.	1.9	0.993	0.18943	-0.240000	0.08970	.	.	0.415000	0.20742	0.000000	0.06391	0.000000	0.08366	0.023000	0.12082	0.0:0.8279:0.0:0.1721	6.443	0.21064	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4722	46731.8	276	chr3	75737840	.	C	T	46731.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.149;DP=4419;ExcessHet=31.086;FS=11.167;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=58.89;MQRankSum=-4.862;QD=12.26;ReadPosRankSum=-0.338;SOR=0.935	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,97:190:99:1|0:75737791_C_A:3665,0,3465:75737791	1	0	17	1
chr3	75737881	75737881	T	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.A1742G:p.H581R,ZNF717:NM_001290208:exon5:c.A1742G:p.H581R,ZNF717:NM_001290209:exon5:c.A1592G:p.H531R,ZNF717:NM_001324027:exon5:c.A1742G:p.H581R	.	356	594	572	0	0	572	0.325	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00618583320825	.	.	.	.	.	.	.	.	.	.	0.0154833	403	26028	rs76729736	5.018e-06	5.475e-06	2.829e-06	7.267e-06	8.44e-05	2.09e-06	1.34e-06	2.237e-05	1.22e-05	3.194e-05	0	0	8.44e-05	0	0	0	0	3.792e-05	1.313e-05	1.312e-05	1.284e-05	1.342e-05	0.0002	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0.0002	0	0	0	0	0	0.031	0.45039	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	-2.18	0.86722	D	-7.28	0.94430	D	0.235	0.26475	0.078	0.83778	D	0.691	0.89323	D	9	0.15374556	0.29014	T	0.006186	0.16200	T	0.389	0.70521	.	.	0.26547132957	0.26150	0.029317279208247043	0.02880	.	.	0.705122470856	0.67885	T	.	.	.	0.0863372	0.62775	D	-0.113759	0.62311	T	0.349910879008873	0.27015	T	0.751425	0.37327	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.804	0.77471	P	.	.	1.529838	0.19634	14.36	0.57541806715571575	0.05792	0.27383	0.23262	N	AEFDBHCIJ	0.135649	0.25605	N	-0.602165132605538	0.18879	0.9837148	-0.767266515667793	0.15298	0.8039007	0.999994431577383	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.486962	0.07600	0	0.264475	0.05362	3	.	.	1.76	0.513	0.16200	2.229000	0.42634	.	.	-0.220000	0.07995	1.000000	0.71638	0.067000	0.22148	0.002000	0.04165	0.0:0.1678:0.0:0.8322	5.415	0.15671	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	22517.3	279	chr3	75737881	.	T	C	22517.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.903;DP=3953;ExcessHet=38.2876;FS=17.658;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.41;MQRankSum=-7.695;QD=6.2;ReadPosRankSum=-4.196;SOR=1.527	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:106,59:165:99:0|1:75737881_T_C:1856,0,4191:75737881	1	0	18	0
chr3	75737891	75737891	-	AAAT	exonic	ZNF717	.	frameshift insertion	ZNF717:NM_001128223:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290208:exon5:c.1731_1732insATTT:p.L578Ifs*16,ZNF717:NM_001290209:exon5:c.1581_1582insATTT:p.L528Ifs*16,ZNF717:NM_001324027:exon5:c.1731_1732insATTT:p.L578Ifs*16	.	353	691	477	1	0	479	0.257389	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004995	13	26028	rs369928577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	17868.3	263	chr3	75737891	.	G	GAAAT	17868.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=1.54;DP=3685;ExcessHet=38.2876;FS=22.758;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.24;MQRankSum=-9.11;QD=5.14;ReadPosRankSum=-4.094;SOR=1.898	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:109,48:157:99:0|1:75737881_T_C:1592,0,4389:75737881	1	0	18	0
chr3	75737893	75737893	-	CTT	exonic	ZNF717	.	stopgain	ZNF717:NM_001128223:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290208:exon5:c.1729_1730insAAG:p.F577_P914del,ZNF717:NM_001290209:exon5:c.1579_1580insAAG:p.F527_P864del,ZNF717:NM_001324027:exon5:c.1729_1730insAAG:p.F577_N798del	.	356	680	485	1	0	487	0.263671	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0023052	60	26028	rs373780316	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	16790.3	259	chr3	75737893	.	A	ACTT	16790.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.064;DP=3615;ExcessHet=38.2876;FS=25.647;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=58.16;MQRankSum=-9.235;QD=4.92;ReadPosRankSum=-3.238;SOR=2.094	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,47:154:99:0|1:75737881_T_C:1626,0,4348:75737881	1	0	18	0
chr3	75737948	75737949	CT	-	exonic	ZNF717	.	frameshift deletion	ZNF717:NM_001128223:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290208:exon5:c.1674_1675del:p.E560Kfs*4,ZNF717:NM_001290209:exon5:c.1524_1525del:p.E510Kfs*4,ZNF717:NM_001324027:exon5:c.1674_1675del:p.E560Kfs*4	.	376	813	333	0	0	333	0.169985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0008837	23	26028	rs74340838	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0.0001	0	0.0001	0	0.0002	0.0001	0.0002	0.0002	0.0001	0.0001	7.71e-05	0.0002	0.0003	8.659e-05	7.251e-05	0.0001	8.279e-05	4.816e-05	0	0.0003	0	0	0	0	0.0002	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	4037.35	240	chr3	75737947	.	CCT	C	4037.35	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.249;DP=3312;ExcessHet=2.0135;FS=24.339;InbreedingCoeff=-0.1874;MLEAC=6;MLEAF=0.158;MQ=57.02;MQRankSum=-11;QD=4.19;ReadPosRankSum=0.508;SOR=2.248	GT:AD:DP:GQ:PL	0/1:149,40:189:99:1231,0,6027	13	0	6	0
chr3	75738008	75738008	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1615A:p.E539K,ZNF717:NM_001290208:exon5:c.G1615A:p.E539K,ZNF717:NM_001290209:exon5:c.G1465A:p.E489K,ZNF717:NM_001324027:exon5:c.G1615A:p.E539K	.	374	899	248	1	0	250	0.12207	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00103100052401	.	.	0.0035	0	0	0	0	0.0041	0	0.0070	0.0381512	993	26028	rs77322475	0.0003	0.0005	0.0003	0.0004	0.0006	0.0003	0.0003	0.0005	0.0004	0.0002	3.974e-05	0.0002	0	2.459e-05	0	0.0004	0.0002	0.0006	0.0003	0.0004	0.0003	0.0004	0.0054	0.0003	0.0002	0.0038	0.0032	0.0001	0	0	0.0003	0	9.43e-05	0	0.0002	0.0009	0.0054	0.057	0.37966	T	0.059	0.45961	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.2	0.07236	T	-2.57	0.55501	D	0.164	0.17278	-0.9770	0.35683	T	0.011	0.04042	T	9	0.006899923	0.00157	T	0.001031	0.01144	T	0.040	0.10527	.	.	0.0138822411134	0.00435	0.004688527706481307	0.00441	.	.	0.455887436867	0.32748	T	.	.	.	-0.247215	0.14443	T	-0.592883	0.13417	T	0.0202189277908029	0.00722	T	0.157184	0.01392	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.163	0.35931	B	.	.	0.663217	0.10314	7.047	0.74861509555931272	0.10855	0.00293	0.01568	N	AEFDBHCIJ	0.019046	0.00627	N	-1.65826808888533	0.01001	0.04337943	-1.78840371790065	0.00797	0.0355687	0.999985886557565	0.51787	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.8	-3.59	0.04290	-1.723000	0.01966	.	.	-1.085000	0.01553	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.1742:0.3948:0.172:0.259	0.971	0.01326	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3158	7392.86	342	chr3	75738008	.	C	T	7392.86	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-0.824;DP=3788;ExcessHet=11.1788;FS=6.856;InbreedingCoeff=-0.4602;MLEAC=12;MLEAF=0.316;MQ=57.27;MQRankSum=-12.06;QD=2.94;ReadPosRankSum=3.25;SOR=1.524	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,43:229:99:0|1:75737994_T_C:1246,0,7652:75737994	7	0	12	0
chr3	75738053	75738053	C	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G1570T:p.V524F,ZNF717:NM_001290208:exon5:c.G1570T:p.V524F,ZNF717:NM_001290209:exon5:c.G1420T:p.V474F,ZNF717:NM_001324027:exon5:c.G1570T:p.V524F	.	359	1071	92	0	0	92	0.0411817	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.00104650146877	.	.	.	.	.	.	.	.	.	.	.	.	.	rs75063165	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.049	0.39820	D	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	3.18	0.07478	T	-2.6	0.55983	D	0.148	0.15046	-1.0173	0.24592	T	0.014	0.05753	T	9	0.11586878	0.21842	T	0.001047	0.01191	T	0.074	0.21613	.	.	0.0138822411134	0.00435	0.0034182461744823667	0.00319	.	.	0.563414692879	0.47750	T	.	.	.	-0.246862	0.14487	T	-0.592376	0.13461	T	0.28954122460075	0.24571	T	0.0661934	0.00482	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.411	0.60172	A	.	.	0.533719	0.09024	5.806	0.95230003730299473	0.26460	0.00215	0.01220	N	AEFDBHCIJ	0.026943	0.02113	N	-1.1142521379857	0.06388	0.2939498	-1.36117125995018	0.03676	0.1719606	0.99999365082094	0.74766	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-3.170000	0.00633	.	.	-2.136000	0.00379	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2892:0.3399:0.3708	4.138	0.09647	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2778	4997.0	314	chr3	75738053	.	C	A	4997.0	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-0.883;DP=3830;ExcessHet=6.9875;FS=5.735;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.278;MQ=57.27;MQRankSum=-11.01;QD=2.36;ReadPosRankSum=-1.823;SOR=1.374	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:185,36:221:99:0|1:75737994_T_C:955,0,7660:75737994	8	0	10	1
chr3	75738071	75738071	A	G	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1552C:p.C518R,ZNF717:NM_001290208:exon5:c.T1552C:p.C518R,ZNF717:NM_001290209:exon5:c.T1402C:p.C468R,ZNF717:NM_001324027:exon5:c.T1552C:p.C518R	.	356	1145	20	0	1	21	0.00865801	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.000738598015433	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78680336	1.676e-06	1.383e-06	1.643e-06	1.712e-06	2.128e-06	2.8e-07	1e-07	3.5e-07	1.3e-07	0	0	0	0	0	0	2.128e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.38	0.11191	T	0.621	0.07419	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	2.23	0.00314	N	0.019	0.00279	-0.9149	0.46233	T	0.007	0.02360	T	9	0.046755195	0.03906	T	7.39E-4	0.00510	T	0.031	0.07369	.	.	0.0138822411134	0.00435	0.002225550650649705	0.00206	.	.	0.525679767132	0.42426	T	.	.	.	-0.29785	0.08864	T	-0.665617	0.07892	T	0.0535102972529573	0.06106	T	0.0253975	0.00153	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.53324	B	.	.	-1.114804	0.00623	0.016	0.37644118236720736	0.02493	0.00136	0.00836	N	AEFDBHCIJ	0.016194	0.00350	N	-1.60520409349473	0.01239	0.05388159	-1.61920287810212	0.01543	0.06989911	0.999942708847049	0.47345	0.566229	0.32551	0	0.615513	0.52658	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-0.593	0.11083	-1.649000	0.02095	.	.	-2.516000	0.00258	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.17:0.0:0.3549:0.4751	2.786	0.05043	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1944	1843.57	302	chr3	75738071	.	A	G	1843.57	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.893;DP=3659;ExcessHet=2.9153;FS=8.947;InbreedingCoeff=-0.2447;MLEAC=7;MLEAF=0.194;MQ=57.68;MQRankSum=-9.963;QD=1.29;ReadPosRankSum=-1.839;SOR=1.806	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:180,22:202:99:0|1:75737994_T_C:382,0,7492:75737994	11	0	7	1
chr3	75738074	75738074	G	A	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C1549T:p.R517C,ZNF717:NM_001290208:exon5:c.C1549T:p.R517C,ZNF717:NM_001290209:exon5:c.C1399T:p.R467C,ZNF717:NM_001324027:exon5:c.C1549T:p.R517C	.	352	1156	14	0	0	14	0.00601892	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.00168171448549	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs370022573	2.178e-05	2.351e-05	2.299e-05	2.052e-05	7.637e-05	1.515e-05	1.287e-05	2.05e-05	1.277e-05	7.382e-05	0	0	7.637e-05	0	0	1.914e-05	0	6.214e-05	1.314e-05	2.625e-05	0	2.686e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.159	0.23813	T	0.3	0.20357	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.11	0.08194	T	-0.06	0.07882	N	0.048	0.01999	-0.9892	0.32803	T	0.016	0.06569	T	9	0.03303978	0.01470	T	0.001682	0.02779	T	0.059	0.16972	.	.	0.0138822411134	0.00435	0.002613494462515561	0.00242	.	.	0.5004529953	0.38892	T	.	.	.	-0.277008	0.10988	T	-0.635679	0.09988	T	0.0130366375576749	0.00227	T	0.0907909	0.00672	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.224	0.45520	B	.	.	0.194387	0.05799	2.242	0.73132658542385853	0.10218	0.00363	0.01856	N	AEFDBHCIJ	0.023887	0.01396	N	-1.62321359239289	0.01153	0.05010462	-1.76099622892232	0.00892	0.03989968	0.999989264977476	0.51787	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.79	-3.58	0.04303	-2.248000	0.01271	.	.	-5.905000	0.00006	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.629:0.1528:0.2182:0.0	5.171	0.14438	987	0.02648	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1111	1194.93	268	chr3	75738074	.	G	A	1194.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=0.911;DP=3462;ExcessHet=0.7564;FS=13.466;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.6;MQRankSum=-9.806;QD=1.67;ReadPosRankSum=-2.295;SOR=2.405	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,18:192:99:0|1:75737994_T_C:232,0,7252:75737994	14	0	4	1
chr3	75738077	75738077	A	C	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.T1546G:p.F516V,ZNF717:NM_001290208:exon5:c.T1546G:p.F516V,ZNF717:NM_001290209:exon5:c.T1396G:p.F466V,ZNF717:NM_001324027:exon5:c.T1546G:p.F516V	.	351	1158	13	0	0	13	0.00558179	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273	0.00436624551321	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs78763958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	0.99	0.41750	T	-6.9	0.93293	D	0.254	0.28732	-0.7956	0.55403	T	0.314	0.68424	T	9	0.37955025	0.54090	T	0.004366	0.10624	T	0.273	0.58883	.	.	0.134241683229	0.13084	0.004951265273006765	0.00467	.	.	0.695522069931	0.66498	T	.	.	.	-0.0135903	0.49761	T	-0.257298	0.49093	T	0.969250798225403	0.68526	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.758	0.75417	P	.	.	2.832235	0.37339	20.5	0.96884311371509557	0.31473	0.34734	0.25137	N	AEFDBHCIJ	0.282251	0.39563	N	0.258654387862171	0.54069	3.573403	-0.0427249932617247	0.37806	2.218651	0.999999981817215	0.74766	0.460665	0.09802	0	0.636889	0.57051	0	0.575934	0.27490	0	0.264475	0.05362	3	.	.	1.91	1.91	0.24841	4.720000	0.61636	.	.	0.610000	0.48991	0.993000	0.37899	0.919000	0.28284	0.003000	0.05239	1.0:0.0:0.0:0.0	7.900	0.28894	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	.	.	.	.	.	.	.	.	0.1111	969.93	268	chr3	75738077	.	A	C	969.93	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.037;DP=3428;ExcessHet=0.7564;FS=15.621;InbreedingCoeff=-0.1343;MLEAC=4;MLEAF=0.111;MQ=57.63;MQRankSum=-9.456;QD=1.39;ReadPosRankSum=-2.301;SOR=2.545	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:173,17:190:99:0|1:75737994_T_C:193,0,7213:75737994	14	0	4	1
chr3	75739165	75739165	C	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.G458A:p.G153E,ZNF717:NM_001290208:exon5:c.G458A:p.G153E,ZNF717:NM_001290209:exon5:c.G308A:p.G103E,ZNF717:NM_001324027:exon5:c.G458A:p.G153E	.	426	716	379	1	0	381	0.210149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.131	0.00294703274024	.	.	.	.	.	.	.	.	.	.	0.0484862	1262	26028	rs79165653	3.574e-06	3.42e-06	1.411e-06	5.798e-06	0.0001	1.05e-06	7.6e-07	5.451e-05	3.56e-05	0	0	0	0.0001	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.197	0.20607	T	0.074	0.42976	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.0	0.41392	T	-2.66	0.56945	D	0.098	0.07949	-1.0050	0.28457	T	0.128	0.43625	T	9	0.097314626	0.17517	T	0.002947	0.06280	T	0.131	0.35738	.	.	0.0401082797425	0.02173	0.0035025799895356665	0.00327	.	.	0.341039121151	0.16594	T	.	.	.	-0.112133	0.34416	T	-0.398848	0.33517	T	0.425942718982697	0.29910	T	0.179282	0.01775	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43032	B	.	.	0.873037	0.12461	8.992	0.65778472644257657	0.07869	0.01043	0.03895	N	AEFDBCI	.	.	.	-0.639186145779198	0.17776	0.9175853	-0.902737289243841	0.12029	0.6164352	0.999962026466227	0.48965	0.69289	0.55638	0	0.636889	0.57051	0	0.517114	0.09559	2	0.264475	0.05362	3	.	.	2.07	0.059	0.13643	0.766000	0.26225	.	.	0.439000	0.21057	0.011000	0.18532	0.000000	0.08366	0.002000	0.04165	0.0:0.638:0.2172:0.1447	5.008	0.13643	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	5464.78	121	chr3	75739165	.	C	T	5464.78	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.906;DP=2470;ExcessHet=17.0548;FS=18.205;InbreedingCoeff=-0.6172;MLEAC=14;MLEAF=0.389;MQ=56.72;MQRankSum=-8.722;QD=3.04;ReadPosRankSum=-1.272;SOR=1.252	GT:AD:DP:GQ:PL	0/1:106,21:127:99:236,0,3090	4	0	14	1
chr3	75739283	75739283	G	T	exonic	ZNF717	.	nonsynonymous SNV	ZNF717:NM_001128223:exon5:c.C340A:p.Q114K,ZNF717:NM_001290208:exon5:c.C340A:p.Q114K,ZNF717:NM_001290209:exon5:c.C190A:p.Q64K,ZNF717:NM_001324027:exon5:c.C340A:p.Q114K	.	430	419	666	7	0	680	0.447958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.115	0.00164498502106	.	.	.	.	.	.	.	.	.	.	0.0684647	1782	26028	rs4011155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.979	0.02012	T	0.602	0.07894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.91	0.44856	T	-0.17	0.09627	N	0.04	0.01347	-1.0394	0.17495	T	0.052	0.22269	T	9	0.04538721	0.03603	T	0.001645	0.02676	T	0.115	0.32236	.	.	0.0138822411134	0.00435	0.01612756142273845	0.01568	.	.	0.421879798174	0.28096	T	.	.	.	-0.0408301	0.45825	T	-0.296426	0.45101	T	0.177929786236283	0.19104	T	0.340666	0.07366	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.43102	B	.	.	0.246741	0.06266	2.719	0.63846773733670814	0.07333	0.00471	0.02257	N	AEFDBCI	.	.	.	-0.990502388475167	0.08805	0.414299	-1.12680793005723	0.07191	0.3488778	0.99994075275372	0.47345	0.0	0.00013	3	0.636889	0.57051	0	0.002978	0.00130	3	0.264475	0.05362	3	.	.	2.13	-0.13	0.12839	0.783000	0.26463	.	.	0.493000	0.22426	0.008000	0.17931	0.055000	0.21918	0.006000	0.07323	0.0:0.4319:0.5681:0.0	8.996	0.35214	987	0.02648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	11257.3	145	chr3	75739283	.	G	T	11257.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.77;DP=1751;ExcessHet=38.2876;FS=0.577;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=54.65;MQRankSum=-4.905;QD=6.85;ReadPosRankSum=0.657;SOR=0.786	GT:AD:DP:GQ:PL	0/1:47,38:85:99:793,0,1314	1	0	18	0
chr3	97875341	97875341	C	G	exonic	CRYBG3	.	nonsynonymous SNV	CRYBG3:NM_153605:exon4:c.C4147G:p.L1383V	.	434	1080	8	0	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0249601	.	.	.	.	.	.	.	.	0.008414	219	26028	rs75843914	0.0046	0.0047	0.0038	0.0055	0.0702	0.0045	0.0045	0.0678	0.0669	0.0006	0.0213	0.0021	0.0702	0	0.0025	0.0002	0.0059	0.0425	0.0049	0.0050	0.0037	0.0062	0.0548	0.0046	0.0045	0.0496	0.0475	0.0009	0	0.0120	0.0014	0.0548	0	0.0034	0.0003	0.0043	0.0445	.	.	.	1.0	0.01155	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00666	.	.	.	.	.	.	.	0.0036702454	0.00067	T	.	.	.	.	.	.	.	0.61907107664	0.61598	0.006938976387440674	0.00660	.	.	.	.	.	3.93E-4	0.00124	T	-0.592346	0.00162	T	-0.560261	0.16352	T	.	.	.	0.29697	0.05508	T	0.034461148	0.03870	0.09793139	0.23330	0.034461148	0.03870	0.09793139	0.23329	-3.433	0.15504	T	.	.	0.052	0.00239	B	.	.	-1.091764	0.00650	0.018	0.49300846330134845	0.04186	0.00533	0.02466	N	AEFBI	.	.	.	.	.	.	.	.	.	0.00212894333082125	0.09174	0.162113	0.03585	0	0.084543	0.02171	0	0.078618	0.02440	0	0.24566	0.04862	0	0.22281	0.31441	5.54	-1.58	0.08029	-0.145000	0.10248	-0.022000	0.12912	-0.791000	0.03245	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2729:0.1138:0.4988:0.1145	3.049	0.05790	798	0.45050	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1222.33	41	chr3	97875341	.	C	G	1222.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.227;DP=1346;ExcessHet=0;FS=10.55;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=1.21;SOR=0.199	GT:AD:DP:GQ:PL	0/1:42,51:93:99:1236,0,1224	18	0	1	0
chr3	98133457	98133457	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C760G:p.P254A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.04545	412.34	59	chr3	98133457	.	C	G	412.34	.	AC=1;AF=0.045;AN=22;BaseQRankSum=-2.924;DP=1837;ExcessHet=5.3738;FS=137.077;InbreedingCoeff=-0.52;MLEAC=1;MLEAF=0.045;MQ=60;MQRankSum=0;QD=0.42;ReadPosRankSum=3.2;SOR=10.885	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,24:87:99:0|1:98133457_C_G:422,0,2227:98133457	10	0	1	8
chr3	98133460	98133460	C	G	exonic	OR5H1	.	nonsynonymous SNV	OR5H1:NM_001005338:exon1:c.C763G:p.L255V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	4817.21	59	chr3	98133460	.	C	G	4817.21	.	AC=2;AF=0.083;AN=24;BaseQRankSum=-0.619;DP=1799;ExcessHet=6.9875;FS=160.379;InbreedingCoeff=-0.5511;MLEAC=3;MLEAF=0.125;MQ=60;MQRankSum=0;QD=4.46;ReadPosRankSum=1.07;SOR=11.277	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,12:85:66:.:.:388,0,2308:.	10	0	2	7
chr3	98354353	98354353	C	T	exonic	OR5K4	.	nonsynonymous SNV	OR5K4:NM_001005517:exon1:c.C500T:p.T167I	.	432	1082	8	0	0	8	0.00368324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.00116257791848	.	0.000798722	0.0006	0	0.0003	0	0	0.0002	0	0.0035	0.0005627	87	154602	rs200319864	0.0003	0.0003	0.0003	0.0004	0.0033	0.0003	0.0003	0.0030	0.0029	0	0.0001	0	0	0	0.0024	0.0002	0.0005	0.0033	0.0002	0.0002	0.0001	0.0003	0.0035	0.0002	0.0001	0.0022	0.0018	0	0	0	0	0.0002	0	0	0.0002	0.0009	0.0035	0.027	0.46513	D	0.093	0.39799	T	0.091	0.25247	B	0.158	0.34617	B	0.082869	0.20785	U	0.245457	1	0.08975	N	2.005	0.54552	M	8.73	0.00091	T	-4.72	0.79998	D	0.237	0.26717	-1.0255	0.21919	T	0.001	0.00255	T	10	0.011091977	0.00244	T	0.001163	0.01459	T	0.065	0.18881	.	.	0.146414634003	0.14194	0.11858389257733806	0.11785	0.0103282779288	0.00949	0.212327748537	0.00914	T	0.008401	0.07715	T	-0.542561	0.00323	T	-0.554864	0.16861	T	0.0866907032853627	0.10821	T	0.727127	0.34152	T	0.23283513	0.46078	0.3193494	0.57897	0.23283513	0.46078	0.3193494	0.57896	-6.088	0.47010	T	.	.	0.188	0.40457	B	.	.	1.762983	0.22423	15.61	0.99344118048459207	0.60291	0.11086	0.16398	N	AEFI	0.088665	0.17974	N	-0.42138307726111	0.24721	1.336837	-0.451914550562452	0.23495	1.281552	6.55504801669791E-6	0.01202	0.487112	0.14033	0	0.55458	0.17659	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.97	3.14	0.35196	0.251000	0.18025	.	.	0.542000	0.25261	0.000000	0.06391	0.000000	0.08366	0.236000	0.22896	0.0:0.7598:0.1543:0.0859	8.581	0.32788	773	0.48803	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2342.33	37	chr3	98354353	.	C	T	2342.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.725;DP=913;ExcessHet=0;FS=3.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.94;ReadPosRankSum=-1.015;SOR=0.657	GT:AD:DP:GQ:PL	0/1:91,90:181:99:2356,0,2438	18	0	1	0
chr3	99790960	99790960	T	C	exonic	COL8A1	.	nonsynonymous SNV	COL8A1:NM_020351:exon3:c.T278C:p.I93T,COL8A1:NM_001850:exon4:c.T278C:p.I93T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.0464175628527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.534e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.024	0.56640	D	0.002	0.09854	B	0.007	0.12992	B	0.626423	0.05786	N	1.175870	0.998827	0.21877	N	1.5	0.37844	L	-2.79	0.91019	D	-4.27	0.76254	D	0.444	0.48227	-0.6140	0.64238	T	0.561	0.84031	D	10	0.18345827	0.33673	T	0.046418	0.62447	D	0.239	0.54358	0.357	0.35897	0.924347348687	0.92358	0.366193068856577	0.36533	0.285142599056	0.30925	0.492204546928	0.37745	T	0.095194	0.53627	T	0.0488784	0.58199	T	-0.167566	0.57666	T	0.802636981010437	0.46533	D	0.765923	0.40508	T	0.12284405	0.28857	0.0740384	0.16153	0.12284405	0.28857	0.0740384	0.16153	-4.304	0.28232	T	.	.	0.398	0.59970	A	.;.;.;.	.;.;.;.	3.398026	0.47076	22.4	0.99758335663458786	0.84851	0.91648	0.53968	D	AEBCI	0.380408	0.46306	N	-0.289187463698073	0.29565	1.640657	-0.0947472757979899	0.35606	2.062034	0.99999992535184	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.573888	0.23631	0	0.711	0.71501	0	.	.	5.86	5.86	0.93936	5.505000	0.66698	5.012000	0.46677	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	14.197	0.65220	290	0.88477	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	676.44	33	chr3	99790960	.	T	C	676.44	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-2.432;DP=2376;ExcessHet=2.0135;FS=86.712;InbreedingCoeff=-0.2304;MLEAC=7;MLEAF=0.206;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.172;SOR=11.394	GT:AD:DP:GQ:PL	0/1:139,36:175:87:87,0,2652	11	0	6	2
chr3	100775231	100775231	C	G	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.G2284C:p.V762L,ABI3BP:NM_001349332:exon28:c.G2359C:p.V787L,ABI3BP:NM_001349331:exon35:c.G2746C:p.V916L,ABI3BP:NM_001365642:exon40:c.G3112C:p.V1038L,ABI3BP:NM_001377332:exon49:c.G3691C:p.V1231L,ABI3BP:NM_001349330:exon54:c.G4015C:p.V1339L,ABI3BP:NM_001349329:exon57:c.G4225C:p.V1409L,ABI3BP:NM_001375549:exon59:c.G4390C:p.V1464L,ABI3BP:NM_001375550:exon59:c.G4396C:p.V1466L,ABI3BP:NM_001375547:exon60:c.G4438C:p.V1480L	.	428	1053	38	3	0	44	0.0204651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	.	0.0024	0.00778754	0.0058	0.0001	0.0038	0.0001	0.0002	0.0030	0.0053	0.0282	0.0045924	710	154602	rs141302553	0.0036	0.0037	0.0030	0.0043	0.0235	0.0036	0.0035	0.0227	0.0223	0.0005	0.0031	0.0007	0	0.0003	0.0147	0.0025	0.0037	0.0235	0.0026	0.0026	0.0023	0.0029	0.0243	0.0024	0.0023	0.0207	0.0194	0.0004	0	0.0027	0.0003	0	0.0002	0.0068	0.0030	0.0038	0.0243	0.052	0.39097	T	0.242	0.24264	T	0.575	0.38708	P	0.17	0.35299	B	0.254282	0.15444	N	0.663319	0.999809	0.20292	N	1.01	0.25309	L	2.3	0.22067	T	-1.15	0.29525	N	0.183	0.19861	-1.0594	0.11905	T	0.023	0.09832	T	10	0.003952503	0.00076	T	.	.	.	0.015	0.02232	.	.	0.527759996296	0.52422	0.28051411292793593	0.27964	0.0954240108754	0.10779	0.301007211208	0.10550	T	0.018758	0.26335	T	-0.544653	0.00314	T	-0.536879	0.18604	T	0.0113682145057753	0.00169	T	0.855414	0.54290	D	0.087015405	0.20245	0.07827063	0.17516	0.087015405	0.20245	0.07827063	0.17516	.	.	.	.	.	0.166	0.36515	B	.;.;.	.;.;.	1.770697	0.22515	15.65	0.98556643482280593	0.42922	0.60854	0.31315	D	AEFBI	0.218867	0.34383	N	-0.345431351367633	0.27441	1.505536	-0.236779375550058	0.30228	1.700263	0.993254032926957	0.33144	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	5.0	4.13	0.47661	1.054000	0.30064	1.754000	0.28498	0.549000	0.26987	0.504000	0.26986	0.003000	0.18671	0.502000	0.29062	0.0:0.9006:0.0:0.0994	9.451	0.37891	722	0.55239	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010111	0.000000	0.002717	0.005848	0.000000	0.000000	0.018405	0.034351	0.05263	1387.83	34	chr3	100775231	.	C	G	1387.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.204;DP=719;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.07;ReadPosRankSum=0.776;SOR=0.76	GT:AD:DP:GQ:PL	0/1:38,36:74:99:808,0,863	17	0	2	0
chr3	100775333	100775333	T	C	exonic	ABI3BP	.	nonsynonymous SNV	ABI3BP:NM_015429:exon27:c.A2182G:p.I728V,ABI3BP:NM_001349332:exon28:c.A2257G:p.I753V,ABI3BP:NM_001349331:exon35:c.A2644G:p.I882V,ABI3BP:NM_001365642:exon40:c.A3010G:p.I1004V,ABI3BP:NM_001377332:exon49:c.A3589G:p.I1197V,ABI3BP:NM_001349330:exon54:c.A3913G:p.I1305V,ABI3BP:NM_001349329:exon57:c.A4123G:p.I1375V,ABI3BP:NM_001375549:exon59:c.A4288G:p.I1430V,ABI3BP:NM_001375550:exon59:c.A4294G:p.I1432V,ABI3BP:NM_001375547:exon60:c.A4336G:p.I1446V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0042577872272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.40832	T	0.851	0.17064	T	0.11	0.26188	B	0.064	0.27215	B	0.129979	0.18676	N	0.542434	0.998149	0.23853	N	2.245	0.63543	M	2.23	0.22881	T	-0.36	0.13035	N	0.238	0.26837	-0.9907	0.32424	T	0.069	0.28113	T	10	0.1329661	0.25307	T	0.004258	0.10310	T	0.028	0.06331	0.178	0.08503	0.536287059136	0.53279	0.1284411164199673	0.12769	0.081923470924	0.09225	0.37267062068	0.21215	T	0.013394	0.13935	T	-0.217609	0.18322	T	-0.550357	0.17292	T	0.24375493824482	0.22591	T	0.640436	0.25296	T	0.023745567	0.01140	0.03538561	0.02781	0.023745567	0.01140	0.03538561	0.02780	.	.	.	.	.	0.112	0.22024	B	.;.;.	.;.;.	1.023665	0.14032	10.60	0.62105742636814754	0.06878	0.33788	0.24913	N	AEFDBIJ	0.088700	0.17982	N	-0.138409453698759	0.35730	2.055995	-0.25515300555331	0.29594	1.659267	0.971890519317384	0.29325	0.732398	0.92422	0	0.573888	0.26702	0	0.547309	0.15389	0	0.727631	0.95156	0	.	.	4.68	-1.84	0.07387	-0.061000	0.11650	0.266000	0.16602	-0.194000	0.09177	0.988000	0.36536	0.994000	0.32194	0.924000	0.46004	0.0:0.5259:0.0:0.4741	9.015	0.35326	722	0.55239	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3056	1558.48	47	chr3	100775333	.	T	C	1558.48	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-0.764;DP=760;ExcessHet=8.9063;FS=127.792;InbreedingCoeff=-0.4631;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=3.78;ReadPosRankSum=0.311;SOR=10.42	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:29,15:44:47:.:.:47,0,429:.	7	0	11	1
chr3	114350760	114350760	C	T	exonic	ZBTB20	.	nonsynonymous SNV	ZBTB20:NM_001164342:exon4:c.G1318A:p.E440K,ZBTB20:NM_001164346:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164347:exon5:c.G1099A:p.E367K,ZBTB20:NM_001164345:exon6:c.G1099A:p.E367K,ZBTB20:NM_001164344:exon7:c.G1099A:p.E367K,ZBTB20:NM_001348804:exon9:c.G1099A:p.E367K,ZBTB20:NM_015642:exon9:c.G1099A:p.E367K,ZBTB20:NM_001348802:exon10:c.G1099A:p.E367K,ZBTB20:NM_001348805:exon10:c.G1099A:p.E367K,ZBTB20:NM_001164343:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348800:exon11:c.G1318A:p.E440K,ZBTB20:NM_001348801:exon11:c.G1099A:p.E367K,ZBTB20:NM_001348803:exon13:c.G1318A:p.E440K	Primrose syndrome, Autosomal dominant	427	1046	47	2	0	51	0.0237984	.	.	.	697765	Primrose_syndrome|not_provided|not_specified	MONDO:MONDO:0009798,MedGen:C0796121,OMIM:259050,Orphanet:3042|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.085	.	0.0054	0.00479233	0.0061	0.0013	0.0034	0	0.0005	0.0077	0.0066	0.0099	0.0059249	916	154602	rs138924453	0.0062	0.0062	0.0061	0.0062	0.0192	0.0061	0.0060	0.0163	0.0153	0.0007	0.0052	0.0164	0	0.0009	0.0192	0.0062	0.0075	0.0094	0.0053	0.0053	0.0055	0.0052	0.0108	0.0050	0.0049	0.0094	0.0089	0.0010	0.0033	0.0108	0.0164	0.0002	0.0002	0.0238	0.0071	0.0095	0.0068	0.005	0.65419	D	0.908	0.03074	T	0.0	0.02946	B	0.0	0.01387	B	0.005851	0.32460	N	0.335736	0.999918	0.51042	D	0.805	0.20218	L	2.95	0.09822	T	-0.4	0.13805	N	0.462	0.50056	-1.0342	0.19109	T	0.013	0.04985	T	10	0.0055340827	0.00122	T	.	.	.	0.085	0.24743	.	.	0.273495378476	0.26946	0.35997643831087467	0.35911	1.32069806668	0.83445	0.627004861832	0.56721	T	0.106686	0.41824	T	-0.469568	0.00855	T	-0.440456	0.28757	T	0.0611467036723522	0.07347	T	0.878612	0.59406	D	0.38603228	0.59749	0.32534233	0.58450	0.3285269	0.55350	0.32534233	0.58449	-2.938	0.11102	T	.	.	0.352	0.56715	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.272020	0.44790	22.0	0.99728218537375035	0.82549	0.97136	0.72900	D	AEFBI	0.764290	0.70112	D	0.0161949265100816	0.42593	2.569172	0.22455800224508	0.51212	3.305839	0.999999922502221	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	5.41	5.41	0.78313	7.350000	0.78633	7.709000	0.66702	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.198	0.93686	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.016113	0.010101	0.023098	0.002924	0.000000	0.008621	0.018293	0.007576	0.05263	5664.83	35	chr3	114350760	.	C	T	5664.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.48;DP=985;ExcessHet=0.119;FS=0.376;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.91;ReadPosRankSum=-0.387;SOR=0.717	GT:AD:DP:GQ:PL	0/1:85,99:184:99:2588,0,2135	17	0	2	0
chr3	121697608	121697608	C	T	exonic	GOLGB1	.	nonsynonymous SNV	GOLGB1:NM_001256488:exon12:c.G2675A:p.S892N,GOLGB1:NM_001366283:exon12:c.G2792A:p.S931N,GOLGB1:NM_001366284:exon12:c.G2675A:p.S892N,GOLGB1:NM_001256486:exon13:c.G2915A:p.S972N,GOLGB1:NM_001256487:exon13:c.G2798A:p.S933N,GOLGB1:NM_001366282:exon13:c.G2915A:p.S972N,GOLGB1:NM_004487:exon13:c.G2900A:p.S967N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0055666730905	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001746	27	154602	rs778004960	6.574e-05	6.636e-05	7.359e-05	5.78e-05	8.457e-05	5.5e-05	5.112e-05	7.05e-05	6.543e-05	2.998e-05	0	0	0	0	0	8.457e-05	1.657e-05	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.942e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.942e-05	0	0	0.261	0.16738	T	0.371	0.16425	T	0.001	0.07471	B	0.003	0.08700	B	0.408103	0.13033	N	0.739273	1	0.08975	N	1.2	0.30300	L	2.45	0.24472	T	-0.05	0.13418	N	0.083	0.05929	-1.0015	0.29488	T	0.036	0.15334	T	10	0.038387537	0.02253	T	0.005567	0.14379	T	0.010	0.01040	.	.	0.170165803431	0.16609	0.037615456697216235	0.03707	0.0975493673825	0.11016	0.338142246008	0.16160	T	0.011343	0.10136	T	-0.518972	0.00446	T	-0.687051	0.06562	T	0.355778306722641	0.27244	T	0.69713	0.36376	T	0.025965443	0.01596	0.04456666	0.05802	0.025965443	0.01595	0.04456666	0.05802	-3.888	0.22948	T	.	.	0.068	0.03372	B	.;.;.;.	.;.;.;.	-0.165862	0.03270	0.558	0.56106229042003131	0.05481	0.03532	0.08721	N	AEFBI	0.039459	0.05734	N	-1.19125646828008	0.05132	0.2332122	-1.23530746019028	0.05352	0.2547985	0.0878450262559025	0.16045	0.706548	0.73137	0	0.724815	0.89359	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.35	-1.89	0.07271	-2.009000	0.01544	-0.178000	0.11160	-0.176000	0.10722	0.000000	0.06391	0.020000	0.20764	0.881000	0.42162	0.1378:0.2768:0.1232:0.4621	2.032	0.03317	398	0.82839	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3824	984.38	130	chr3	121697608	.	C	T	984.38	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.025;DP=2253;ExcessHet=13.8672;FS=218.138;InbreedingCoeff=-0.6104;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=0.7;ReadPosRankSum=0.975;SOR=12.96	GT:AD:DP:GQ:PL	0/1:75,27:114:20:20,0,1362	4	0	13	2
chr3	121872672	121872672	C	T	exonic	EAF2	.	nonsynonymous SNV	EAF2:NM_001320041:exon4:c.C230T:p.S77F,EAF2:NM_018456:exon5:c.C620T:p.S207F	.	438	1083	1	0	0	1	0.000461467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	.	.	0.00159744	0.0011	0	8.703e-05	0.0150	0	0	0	6.065e-05	0.0009573	148	154602	rs200859609	0.0004	0.0004	0.0003	0.0004	0.0117	0.0003	0.0003	0.0108	0.0105	0	0	0	0.0117	0	0	5.398e-06	0.0007	0.0002	0.0005	0.0005	0.0004	0.0005	0.0128	0.0004	0.0004	0.0103	0.0094	0	0	0.0004	0	0.0128	0	0	0	0.0009	0	0.027	0.58626	D	0.423	0.62352	T	0.779	0.44223	P	0.177	0.35687	B	0.126177	0.18814	N	0.553824	1	0.08975	N	2.78	0.81115	M	.	.	.	-1.75	0.45404	N	0.333	0.37820	-1.0092	0.27167	T	0.072	0.29098	T	9	0.0046519935	0.00097	T	.	.	.	0.086	0.25016	.	.	0.209622950755	0.20551	0.1851376496143711	0.18431	0.201334601978	0.22533	0.328157424927	0.14656	T	0.178404	0.52904	T	-0.433669	0.01409	T	-0.382738	0.35401	T	0.0665746978342997	0.08161	T	0.734227	0.35027	T	0.05003569	0.08978	0.08015399	0.18106	0.05003569	0.08978	0.08015399	0.18106	-7.395	0.56869	T	.	.	0.102	0.22171	B	.;.	.;.	3.070616	0.41274	21.3	0.98581279728790761	0.43245	0.45273	0.27502	N	AEFBI	0.124874	0.24113	N	-0.250156032301205	0.31096	1.740337	-0.339082136321548	0.26849	1.485724	0.0900319818834573	0.16099	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	4.75	3.86	0.43689	3.677000	0.54354	5.612000	0.49058	0.549000	0.26987	0.382000	0.26022	1.000000	0.68203	0.466000	0.28252	0.0:0.9077:0.0:0.0922	11.145	0.47648	668	0.61153	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1555.33	33	chr3	121872672	.	C	T	1555.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.662;DP=711;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.2;ReadPosRankSum=-1.283;SOR=0.533	GT:AD:DP:GQ:PL	0/1:39,57:96:99:1569,0,935	18	0	1	0
chr3	124796785	124796785	G	C	exonic	ITGB5	.	nonsynonymous SNV	ITGB5:NM_001354766:exon9:c.C837G:p.S279R,ITGB5:NM_001354764:exon10:c.C972G:p.S324R,ITGB5:NM_001354765:exon10:c.C972G:p.S324R,ITGB5:NM_002213:exon10:c.C1296G:p.S432R	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.0129158891781	0.0004	0.000399361	0.0012	0	0.0002	0	0	0.0007	0.0012	0.0063	0.0009508	147	154602	rs150312150	0.0006	0.0006	0.0004	0.0008	0.0059	0.0006	0.0006	0.0054	0.0053	0	0.0003	0.0046	0	0	0.0035	0.0002	0.0007	0.0059	0.0005	0.0005	0.0005	0.0005	0.0046	0.0004	0.0004	0.0031	0.0026	9.62e-05	0	0.0007	0.0052	0	0	0	0.0004	0	0.0046	0.052	0.39097	T	0.249	0.23776	T	0.014	0.16867	B	0.016	0.17743	B	0.000000	0.84330	N	0.086462	0.999955	0.52396	D	1.665	0.42610	L	-0.18	0.65747	T	-2.15	0.48687	N	0.457	0.49420	-0.9201	0.45540	T	0.143	0.46532	T	10	0.022109747	0.00544	T	0.012916	0.31907	T	0.148	0.39182	0.367	0.37524	0.746073329902	0.74378	0.6587996648570885	0.65816	0.744109997126	0.63423	0.430301964283	0.29249	T	0.612137	0.87723	D	-0.322596	0.06687	T	-0.234382	0.51345	T	0.0383054088154707	0.03386	T	0.831417	0.60805	T	0.3502235	0.57085	0.3172702	0.57702	0.3502235	0.57085	0.3172702	0.57702	-4.225	0.27112	T	.	.	0.333	0.55424	B	.;.	.;.	2.870006	0.37944	20.6	0.99215733822871466	0.55747	0.93104	0.57338	D	AEFDBHCI	0.797201	0.72411	D	-0.0933624009340882	0.37683	2.195936	0.100109165932602	0.44555	2.734984	0.999999973673797	0.74766	0.706548	0.73137	0	0.610034	0.51514	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.26	4.32	0.50899	4.672000	0.61290	4.393000	0.43220	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.851000	0.40252	0.0811:0.0:0.9189:0.0	14.465	0.67053	878	0.29785	Integrin beta subunit, VWA domain;Integrin beta subunit, VWA 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	0.002016	0.005051	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	856.33	59	chr3	124796785	.	G	C	856.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.508;DP=738;ExcessHet=0;FS=1.106;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.02;ReadPosRankSum=0.193;SOR=0.467	GT:AD:DP:GQ:PL	0/1:25,32:57:99:870,0,740	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.573	0.091247723289	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.258e-05	0.0002	2.676e-05	1.839e-05	9.196e-05	1.634e-05	1.399e-05	2.437e-05	1.642e-05	9.196e-05	0	0	0	0	0	2.708e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	0.813	0.45457	P	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.275	0.90144	M	.	.	.	-4.32	0.78135	D	0.916	0.91852	0.283	0.87277	D	0.586	0.85162	D	9	0.86147714	0.85369	D	0.091248	0.75671	D	0.573	0.82686	0.675	0.81299	0.76620622527	0.76407	0.9592012447472799	0.95906	2.62425591286	0.98291	0.937776684761	0.99368	D	0.171646	0.89009	T	0.407234	0.90327	D	0.347187	0.90207	D	0.99201911687851	0.82399	D	0.982235	0.93989	D	0.61355335	0.73418	0.63325304	0.78597	0.61355335	0.73420	0.63325304	0.78598	-14.305	0.94006	D	0.9309146123572548	0.97183	0.995	0.95337	P	.;.;.	.;.;.	4.978580	0.82446	27.8	0.99818939875784696	0.90238	0.96469	0.69293	D	AEFBCI	0.955470	0.97334	D	0.872628912596572	0.90357	10.36711	0.841034471038791	0.92481	11.45152	0.999999999999953	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.724815	0.87919	0	0.638787	0.57140	0	.	.	5.96	5.96	0.96695	8.017000	0.88732	7.920000	0.74475	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.974000	0.55675	0.0:0.0:0.0:1.0	16.434	0.83709	652	0.62785	Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain;Translocon Sec61/SecY, plug domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2855.05	66	chr3	128055734	.	T	C	2855.05	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.098;DP=1413;ExcessHet=25.4433;FS=109.351;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.39;ReadPosRankSum=1.13;SOR=11.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:56,16:72:99:.:.:202,0,1245:.	3	0	16	0
chr3	130421334	130421334	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5011C:p.G1671R,COL6A5:NM_153264:exon27:c.G5011C:p.G1671R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.797	0.164375721412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.145e-06	2.052e-06	0	4.35e-06	2.783e-06	5.7e-07	1.6e-07	7.4e-07	2.1e-07	0	0	0	0	0	0	2.783e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.003	0.76473	D	.	.	.	.	.	.	.	.	.	.	0.745532	0.33870	D	.	.	.	-6.29	0.99632	D	-5.91	0.88904	D	0.939	0.94550	1.094	0.99422	D	0.984	0.99521	D	9	0.9844847	0.98645	D	0.164376	0.84350	D	0.797	0.93346	0.939	0.99156	0.586235444834	0.58297	0.9414209663944619	0.94123	0.243824273026	0.26889	0.697831511497	0.66831	T	0.415688	0.76886	T	0.521084	0.94919	D	0.510724	0.94844	D	0.997076034545898	0.90711	D	0.905809	0.66782	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.80266	P	.	.	5.150285	0.86261	28.9	0.99794094919957821	0.87928	0.95070	0.63328	D	AEFBI	0.711476	0.66491	D	0.700525877457095	0.79667	7.126234	0.630267782049677	0.77149	6.623992	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.950000	0.49671	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1053	540.41	48	chr3	130421334	.	G	C	540.41	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-3.412;DP=894;ExcessHet=2.0135;FS=255.487;InbreedingCoeff=-0.1841;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.42;ReadPosRankSum=2.23;SOR=8.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:53,12:65:56:0|1:130421334_G_C:56,0,1825:130421334	15	0	4	0
chr3	130421335	130421335	G	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.G5012C:p.G1671A,COL6A5:NM_153264:exon27:c.G5012C:p.G1671A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.734	0.176336760823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0050	0.0002	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	4.02e-05	5.624e-05	0	0	0.0002	0.0001	5.098e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.011	0.64786	D	.	.	.	.	.	.	.	.	.	.	0.511236	0.31821	D	.	.	.	-6.27	0.99601	D	-4.41	0.77391	D	0.838	0.83371	1.074	0.98698	D	0.984	0.99524	D	9	0.9859581	0.98878	D	0.176337	0.85213	D	0.734	0.90721	0.961	0.99598	0.862445812811	0.86111	0.899606335700418	0.89932	0.247077292364	0.27244	0.620524644852	0.55803	T	0.407117	0.76282	T	0.482482	0.93793	D	0.455275	0.93714	D	0.994999051094055	0.86650	D	0.931207	0.74412	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.470	0.63186	A	.	.	5.124875	0.85741	28.7	0.99596083398483337	0.73925	0.95070	0.63328	D	AEFBI	0.655440	0.62778	D	0.702238441851499	0.79779	7.150365	0.633624628633071	0.77398	6.671322	0.245493615527667	0.18621	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	5.29	0.74430	4.437000	0.59698	11.608000	0.93525	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.960000	0.51673	0.0:0.0:1.0:0.0	14.806	0.69579	369	0.84396	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2188	5712.42	63	chr3	130421335	.	G	C	5712.42	.	AC=7;AF=0.219;AN=32;BaseQRankSum=-0.729;DP=1224;ExcessHet=20.8569;FS=266.52;InbreedingCoeff=-0.7674;MLEAC=8;MLEAF=0.25;MQ=60;MQRankSum=0;QD=5.89;ReadPosRankSum=1.91;SOR=10.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,31:70:99:0|1:130421334_G_C:723,0,1014:130421334	9	0	7	3
chr3	130421337	130421337	T	C	exonic	COL6A5	.	nonsynonymous SNV	COL6A5:NM_001278298:exon27:c.T5014C:p.F1672L,COL6A5:NM_153264:exon27:c.T5014C:p.F1672L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.345	0.0596216124172	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0065	0.0007	0.0006	0.0008	0.0006	0.0006	0.0008	0.0007	0.0006	0	0.0001	0.0002	0	0	0.0008	0.0005	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.36709	T	0.041	0.50514	D	.	.	.	.	.	.	.	.	.	.	0.994102	0.23586	N	.	.	.	-3.21	0.93291	D	-4.25	0.76094	D	0.346	0.38746	-0.0234	0.81768	T	0.759	0.91798	D	9	0.33778954	0.50895	T	0.059622	0.67727	D	0.345	0.66676	0.293	0.25560	0.772553812157	0.77047	0.6545526502865353	0.65391	0.0445941632002	0.04821	0.518319308758	0.41390	T	0.066183	0.32881	T	0.0586812	0.59446	T	-0.153485	0.58935	T	0.887333691120148	0.53783	D	0.69513	0.30474	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.712	0.73446	P	.	.	3.513518	0.49220	22.7	0.9944396451167653	0.64921	0.69566	0.34238	D	AEFBI	0.198693	0.32554	N	0.0829394031833179	0.45667	2.819489	0.0156810835164205	0.40442	2.413623	1.72206950552093E-5	0.02871	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.29	1.49	0.21966	0.820000	0.26979	1.068000	0.23780	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.1594:0.1801:0.0:0.6605	3.899	0.08653	369	0.84396	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.4062	6329.56	63	chr3	130421337	.	T	C	6329.56	.	AC=13;AF=0.406;AN=32;BaseQRankSum=0.201;DP=1213;ExcessHet=25.4433;FS=261.259;InbreedingCoeff=-0.8537;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=6.15;ReadPosRankSum=1.66;SOR=10.386	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:39,31:70:99:0|1:130421334_G_C:723,0,1014:130421334	3	0	13	3
chr3	133955008	133955008	C	T	exonic	SLCO2A1	.	nonsynonymous SNV	SLCO2A1:NM_005630:exon4:c.G583A:p.V195M	Hypertrophic osteoarthropathy, primary, autosomal recessive 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.314	0.067379731123	.	.	4.123e-05	0	0	0	0.0008	0	0	0	3.23e-05	5	154602	rs758784301	6.157e-06	6.156e-06	9.529e-06	2.75e-06	.	2.9e-06	2.1e-06	.	.	0	0	0	0	0.0001	0	0	3.312e-05	0	1.314e-05	1.313e-05	1.284e-05	1.345e-05	.	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0.0002	0	0	0	0	0.002	0.72154	D	0.002	0.79402	D	1.0	0.90584	D	0.995	0.83170	D	0.000001	0.62929	D	0.056075	0.999998	0.81001	D	2.05	0.56469	M	1.09	0.39223	T	-1.98	0.45769	N	0.728	0.72925	-0.7528	0.57789	T	0.195	0.54913	T	10	0.71671367	0.73394	D	0.06738	0.70150	D	0.314	0.63588	0.761	0.88972	0.39619538035	0.39233	0.7821353079601289	0.78164	0.536128822372	0.50953	0.665987491608	0.62266	T	0.170067	0.51768	T	-0.0306994	0.47314	T	-0.281874	0.46612	T	0.495661199092865	0.32471	T	0.958204	0.84269	D	0.4868763	0.66316	0.48913142	0.70440	0.4868763	0.66317	0.48913142	0.70441	-8.348	0.63418	D	0.30333367949773443	0.40082	0.613	0.69407	P	.	.	4.583924	0.72443	25.8	0.99848218779777209	0.92750	0.81169	0.40630	D	AEFDBI	0.327265	0.42829	N	0.21072002682775	0.51717	3.350868	0.181642707625011	0.48843	3.094773	0.976521420220361	0.29733	0.651	0.46895	0	0.588015	0.36545	0	0.618467	0.43123	0	0.683762	0.67416	0	.	.	5.89	5.02	0.66742	2.842000	0.47931	6.007000	0.52582	0.599000	0.40250	0.991000	0.37257	1.000000	0.68203	0.991000	0.66497	0.0:0.9322:0.0:0.0678	15.082	0.71794	713	0.56348	Major facilitator superfamily domain|Major facilitator superfamily domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1178.33	34	chr3	133955008	.	C	T	1178.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.703;DP=690;ExcessHet=0;FS=3.473;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.14;ReadPosRankSum=0.746;SOR=0.347	GT:AD:DP:GQ:PL	0/1:30,43:73:99:1192,0,696	18	0	1	0
chr3	134537191	134537191	C	T	exonic	CEP63	.	nonsynonymous SNV	CEP63:NM_001042383:exon6:c.C478T:p.R160C,CEP63:NM_001042384:exon6:c.C478T:p.R160C,CEP63:NM_001042400:exon6:c.C478T:p.R160C,CEP63:NM_001353108:exon6:c.C478T:p.R160C,CEP63:NM_001353109:exon6:c.C478T:p.R160C,CEP63:NM_001353110:exon6:c.C478T:p.R160C,CEP63:NM_001353111:exon6:c.C478T:p.R160C,CEP63:NM_001353113:exon6:c.C478T:p.R160C,CEP63:NM_001353117:exon6:c.C478T:p.R160C,CEP63:NM_001353118:exon6:c.C505T:p.R169C,CEP63:NM_001353119:exon6:c.C478T:p.R160C,CEP63:NM_001353120:exon6:c.C478T:p.R160C,CEP63:NM_001353123:exon6:c.C478T:p.R160C,CEP63:NM_001353124:exon6:c.C478T:p.R160C,CEP63:NM_001353125:exon6:c.C394T:p.R132C,CEP63:NM_001353112:exon7:c.C478T:p.R160C,CEP63:NM_001353121:exon7:c.C478T:p.R160C,CEP63:NM_001353122:exon7:c.C478T:p.R160C,CEP63:NM_001353126:exon7:c.C115T:p.R39C,CEP63:NM_025180:exon7:c.C478T:p.R160C	.	.	.	.	.	.	.	.	.	.	.	3163537	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.221	0.0216134560464	.	.	2.473e-05	0	0	0.0003	0	0	0	0	1.94e-05	3	154602	rs147553684	6.158e-06	6.841e-06	6.808e-06	5.501e-06	0.0002	2.9e-06	2.1e-06	1.32e-06	9.6e-07	0	0	0	0	0	0.0002	4.498e-06	4.969e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.42	0.70002	M	1.94	0.37405	T	-5.39	0.87300	D	0.598	0.61764	-0.7207	0.59429	T	0.241	0.60941	T	10	0.4937149	0.61142	T	0.021613	0.44401	T	0.221	0.51721	0.299	0.26522	0.717097244813	0.71461	0.36918821376820865	0.36832	0.248968393867	0.27470	0.780515313148	0.79005	T	0.176956	0.69652	T	0.0357391	0.56484	T	0.105709	0.77287	D	0.85416179895401	0.50528	D	0.980402	0.95926	D	0.6686819	0.76362	0.5396241	0.73393	0.6686819	0.76363	0.5396241	0.73394	-8.742	0.67368	D	0.5245315512075456	0.59630	0.251	0.53959	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	5.526969	0.91835	32	0.99931911437267462	0.99439	0.87951	0.47673	D	AEFBI	0.576500	0.57847	D	0.693494983763843	0.79205	7.029021	0.677115797936079	0.80644	7.344972	0.999999982594055	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.7	5.7	0.88690	2.520000	0.45215	3.340000	0.37699	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.842	0.96691	921	0.19240	.;.;Centrosomal protein Cep63/Deup1, N-terminal;.;.;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, N-terminal;Centrosomal protein Cep63/Deup1, 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	.	.	.	.	.	.	.	.	0.05263	1482.83	35	chr3	134537191	.	C	T	1482.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.527;DP=724;ExcessHet=0.119;FS=0.642;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.15;ReadPosRankSum=-0.126;SOR=0.607	GT:AD:DP:GQ:PL	0/1:42,33:75:99:669,0,986	17	0	2	0
chr3	140678379	140678379	C	G	exonic	TRIM42	.	nonsynonymous SNV	TRIM42:NM_152616:exon1:c.C150G:p.C50W	.	423	1092	7	0	0	7	0.00319489	.	.	.	2336128	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.234	0.0157483482268	0.0005	.	0.0006	0	0.0007	0	0	0.0008	0.0011	0.0003	0.0004657	72	154602	rs141361028	0.0005	0.0005	0.0005	0.0005	0.0064	0.0004	0.0004	0.0048	0.0042	0.0001	0.0009	0.0046	0	0	0.0064	0.0004	0.0010	0.0004	0.0008	0.0008	0.0007	0.0009	0.0029	0.0007	0.0006	0.0022	0.0020	0.0002	0	0.0029	0.0043	0	0	0.0068	0.0007	0.0009	0.0002	0.069	0.35537	T	0.222	0.25748	T	0.999	0.77913	D	0.887	0.62952	P	0.101498	0.19837	N	0.511513	0.999946	0.51968	D	1.04	0.26193	L	1.04	0.40218	T	-1.85	0.43334	N	0.785	0.78167	-1.0414	0.16890	T	0.097	0.36315	T	10	0.08149922	0.13349	T	0.015748	0.36654	T	0.234	0.53644	.	.	0.502878934189	0.49925	0.8091116214778893	0.80866	0.961546008612	0.73030	0.723027408123	0.70487	T	0.005089	0.04527	T	-0.300767	0.08588	T	-0.268186	0.48002	T	0.0547075814622254	0.06308	T	0.679332	0.28809	T	0.19993033	0.41950	0.16060242	0.37398	0.19993033	0.41950	0.16060242	0.37397	-6.701	0.51818	T	.	.	0.927	0.84804	P	.	.	3.700671	0.52779	23.3	0.99298717592739283	0.58541	0.80023	0.39774	D	AEFI	0.499204	0.53299	N	0.172065467400196	0.49862	3.181898	0.213339131662549	0.50586	3.249167	1.32045791463176E-4	0.05486	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.53	3.76	0.42368	1.477000	0.35039	0.821000	0.21853	-0.182000	0.10109	1.000000	0.71638	0.999000	0.35428	0.927000	0.46353	0.0:0.8191:0.0:0.1809	8.257	0.30923	564	0.70960	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.008152	0.011696	0.000000	0.000000	0.006098	0.000000	0.05263	6371.83	33	chr3	140678379	.	C	G	6371.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.688;DP=1139;ExcessHet=0.119;FS=2.462;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.854;SOR=0.889	GT:AD:DP:GQ:PL	0/1:140,153:293:99:3909,0,3492	17	0	2	0
chr3	157437630	157437630	G	C	exonic	PTX3	.	nonsynonymous SNV	PTX3:NM_002852:exon2:c.G248C:p.G83A	.	429	1049	42	2	0	46	0.0214552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	.	0.0003	0.00459265	0.0132	0	0.0021	0	0	0.0056	0.0060	0.0248	0.00326	504	154602	rs148943471	0.0031	0.0032	0.0024	0.0038	0.0239	0.0030	0.0030	0.0230	0.0227	0.0003	0.0011	0.0084	2.762e-05	0.0003	0.0177	0.0017	0.0047	0.0239	0.0023	0.0023	0.0018	0.0029	0.0209	0.0021	0.0021	0.0176	0.0164	0.0005	0	0.0014	0.0081	0.0002	9.413e-05	0.0170	0.0025	0.0033	0.0209	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.035426	0.01802	N	2.026420	0.99764	0.58761	N	2.105	0.58435	M	3.21	0.07125	T	0.02	0.06739	N	0.055	0.02658	-0.9854	0.33735	T	0.012	0.04605	T	10	0.0038408637	0.00073	T	.	.	.	0.080	0.23350	.	.	0.190952846119	0.18690	0.4614426320875624	0.46062	0.247234570018	0.27269	0.649283289909	0.59884	T	0.04848	0.28029	T	-0.715397	0.00029	T	-0.78147	0.02409	T	0.00553688543206395	0.00060	T	0.592841	0.21881	T	0.030456103	0.02712	0.05540971	0.09715	0.030456103	0.02712	0.05540971	0.09714	-3.097	0.11262	T	.	.	0.088	0.11654	B	.	.	2.130164	0.27123	17.35	0.86441003015604689	0.16538	0.59410	0.30907	D	ALL	0.181830	0.30915	N	-0.680120344081012	0.16590	0.8465395	-0.518097625390096	0.21662	1.172889	0.999999997809444	0.74766	0.446893	0.09132	0	0.563428	0.19063	0	0.519653	0.09787	0	0.56214	0.19341	0	.	.	4.18	1.06	0.19341	1.529000	0.35602	1.344000	0.25758	0.618000	0.50648	0.978000	0.35038	0.791000	0.26863	0.939000	0.47918	0.0:0.3428:0.2557:0.4015	7.024	0.24111	778	0.48011	.	.	.	.	.	.	Likely benign	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	0.011735	0.000000	0.009642	0.008772	0.000000	0.008929	0.009259	0.030534	0.02632	758.33	41	chr3	157437630	.	G	C	758.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.706;DP=739;ExcessHet=0;FS=5.483;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=0.703;SOR=0.259	GT:AD:DP:GQ:PL	0/1:29,28:57:99:772,0,827	18	0	1	0
chr3	160677917	160677917	C	T	exonic	ARL14	.	stopgain	ARL14:NM_025047:exon1:c.C571T:p.Q191X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.724e-05	0	8.777e-05	0	0	1.545e-05	0	0	1.29e-05	2	154602	rs771563756	1.098e-05	1.094e-05	1.364e-05	8.283e-06	9.016e-05	6.5e-06	5.26e-06	3.001e-05	1.815e-05	0	9.016e-05	0	0	0	0	9.917e-06	1.662e-05	0	3.29e-05	3.284e-05	3.858e-05	2.695e-05	0.0003	1.262e-05	7.99e-06	0.0001	8.29e-05	0	0	0.0003	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.761877	0.06544	U	1.205560	0.925479	0.27191	N	.	.	.	.	.	.	.	.	.	0.037	0.01135	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.34709	0.86311	D	0.486496	0.94335	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.208983	0.97298	37	0.99620114775872926	0.75353	0.35339	0.25279	N	AEFDGBCI	0.172098	0.29911	N	0.97375554759375	0.94880	13.11734	0.822576317194873	0.91318	10.82606	0.999999999928181	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.607795	0.38427	0	0.635259	0.50027	0	.	.	5.75	5.75	0.90390	0.614000	0.24009	3.952000	0.40682	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	0.980000	0.58198	0.0:0.8566:0.1434:0.0	14.971	0.70884	702	0.57624	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	953.33	34	chr3	160677917	.	C	T	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.017;DP=736;ExcessHet=0;FS=2.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.54;ReadPosRankSum=0.592;SOR=0.412	GT:AD:DP:GQ:PL	0/1:38,38:76:99:967,0,1054	18	0	1	0
chr3	186251809	186251809	C	T	exonic	DGKG	.	nonsynonymous SNV	DGKG:NM_001080744:exon18:c.G1636A:p.G546R,DGKG:NM_001080745:exon18:c.G1594A:p.G532R,DGKG:NM_001346:exon19:c.G1711A:p.G571R	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.451	0.035765125741	.	.	4.128e-05	0	0	0	0	1.501e-05	0	0.0002	3.23e-05	5	154602	rs79928844	3.352e-05	3.42e-05	3.54e-05	3.163e-05	0.0002	2.566e-05	2.312e-05	0.0002	0.0001	5.975e-05	2.237e-05	0	7.56e-05	0	0.0002	1.799e-05	1.656e-05	0.0002	2.628e-05	2.627e-05	0	5.379e-05	0.0002	8.14e-06	5.14e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.01	0.58626	D	0.01	0.65728	D	0.999	0.90584	D	0.952	0.76457	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.78	0.46185	L	0.6	0.54540	T	-5.79	0.88065	D	0.77	0.76760	-0.3579	0.73325	T	0.334	0.70101	T	10	0.7538474	0.75834	D	0.035765	0.56560	D	0.451	0.75143	0.277	0.23004	0.88496615109	0.88383	0.6973716162950228	0.69678	0.463572617837	0.45859	0.733421444893	0.72006	T	0.371873	0.73616	T	0.086979	0.62847	D	0.146842	0.79983	D	0.861284852027893	0.51168	D	0.962204	0.86689	D	0.49472776	0.66784	0.4131499	0.65496	0.49472776	0.66785	0.4131499	0.65496	-10.06	0.79675	D	.	.	0.608	0.69202	P	.;.;.	.;.;.	5.248700	0.88117	29.5	0.9987160441080144	0.94902	0.99077	0.90888	D	AEFDBI	0.967388	0.98986	D	0.759226325055771	0.83506	8.034875	0.71744485843587	0.83703	8.092018	0.999999999999936	0.74766	0.497415	0.19182	0	0.547309	0.14657	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.74	4.74	0.59717	7.905000	0.86479	7.719000	0.67224	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.0:1.0:0.0:0.0	17.022	0.86309	573	0.70213	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2926.83	39	chr3	186251809	.	C	T	2926.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.4;DP=850;ExcessHet=0.119;FS=0.976;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=-0.068;SOR=0.695	GT:AD:DP:GQ:PL	0/1:71,74:145:99:1696,0,1556	17	0	2	0
chr3	186741585	186741585	A	C	exonic	KNG1	.	nonsynonymous SNV	KNG1:NM_001166451:exon9:c.A1081C:p.K361Q,KNG1:NM_000893:exon10:c.A1189C:p.K397Q,KNG1:NM_001102416:exon10:c.A1189C:p.K397Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.060	0.00318795038732	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	0.35537	T	0.138	0.48855	T	0.707	0.42016	P	0.299	0.41006	B	0.201627	0.03324	N	1.585020	1	0.08975	N	1.67	0.42885	L	2.35	0.25678	T	-1.0	0.35991	N	0.056	0.10911	-0.9532	0.40416	T	0.053	0.22462	T	10	0.118202835	0.22342	T	0.003188	0.06996	T	0.060	0.17295	0.314	0.28935	0.268660756437	0.26461	0.3954710042193623	0.39462	0.0737171720781	0.08266	0.213217824697	0.00955	T	0.276541	0.64913	T	-0.355837	0.04371	T	-0.748911	0.03529	T	0.13101558985902	0.15476	T	0.646135	0.26583	T	0.08316409	0.19193	0.07316507	0.15868	0.08316409	0.19193	0.07316507	0.15868	-3.838	0.21373	T	.	.	0.102	0.17869	B	.;.;.;.;.	.;.;.;.;.	0.280167	0.06573	3.060	0.39860921061931748	0.02777	0.08700	0.14591	N	AEBI	0.761657	0.69930	D	-1.18455178337909	0.05233	0.2380878	-1.35766372336836	0.03716	0.1739217	0.999999697123509	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.18	-7.34	0.01280	-0.305000	0.08227	-0.390000	0.09482	-0.050000	0.17177	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.3161:0.0:0.6839:0.0	15.123	0.72133	934	0.15400	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	760.33	33	chr3	186741585	.	A	C	760.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.218;DP=660;ExcessHet=0;FS=1.311;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=0.44;SOR=1.098	GT:AD:DP:GQ:PL	0/1:18,27:45:99:774,0,483	18	0	1	0
chr3	195778978	195778978	G	0	exonic	MUC4	.	.	.	.	430	961	15	0	116	131	0.00774393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2	253.72	626	chr3	195778978	.	G	*	253.72	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-0.682;DP=7656;ExcessHet=3.6146;FS=2.774;InbreedingCoeff=-0.1186;MLEAC=7;MLEAF=0.233;MQ=53.86;MQRankSum=-4.516;QD=0.06;ReadPosRankSum=2.17;SOR=0.919	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:455,156:611:99:.:.:3902,0,18014:.	9	0	6	4
chr3	195779001	195779001	A	0	exonic	MUC4	.	.	.	.	424	967	14	0	117	131	0.00718686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	171.08	626	chr3	195779001	.	A	*	171.08	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-0.189;DP=6930;ExcessHet=1.0667;FS=3.257;InbreedingCoeff=0.0952;MLEAC=4;MLEAF=0.167;MQ=51.13;MQRankSum=-4.391;QD=0.07;ReadPosRankSum=-1.285;SOR=0.96	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:455,156:611:99:.:.:3902,0,18014:.	9	0	3	7
chr3	195779003	195779003	G	0	exonic	MUC4	.	.	.	.	416	975	14	0	117	131	0.00712831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	179.08	626	chr3	195779003	.	G	*	179.08	.	AC=3;AF=0.125;AN=24;BaseQRankSum=-1.922;DP=6923;ExcessHet=1.0667;FS=2.275;InbreedingCoeff=0.0952;MLEAC=4;MLEAF=0.167;MQ=51.13;MQRankSum=-4.332;QD=0.07;ReadPosRankSum=-1.613;SOR=0.954	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:455,156:611:99:.:.:3902,0,18014:.	9	0	3	7
chr3	195779036	195779084	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	0	exonic	MUC4	.	.	.	.	533	777	11	0	201	212	0.00702875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3182	1615.83	395	chr3	195779036	.	TGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	*	1615.83	.	AC=7;AF=0.318;AN=22;BaseQRankSum=1.48;DP=6040;ExcessHet=0.0735;FS=0;InbreedingCoeff=0.1383;MLEAC=10;MLEAF=0.455;MQ=54.58;MQRankSum=1.44;QD=0.81;ReadPosRankSum=-1.513;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:455,156:611:99:.:.:3902,0,18014:.	5	1	5	8
chr3	195779084	195779084	C	0	exonic	MUC4	.	.	.	.	640	776	13	4	89	110	0.0133503	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	92.25	404	chr3	195779084	.	C	*	92.25	.	AC=2;AF=0.1;AN=20;BaseQRankSum=1.47;DP=5327;ExcessHet=0.5115;FS=0;InbreedingCoeff=0.0952;MLEAC=3;MLEAF=0.15;MQ=58.15;MQRankSum=-7.181;QD=0.07;ReadPosRankSum=-6.241;SOR=0.728	GT:AD:DP:GQ:PL	0/1:455,156:611:99:3902,0,18014	8	0	2	9
chr3	195779400	195779400	A	0	exonic	MUC4	.	.	.	.	692	592	97	123	18	361	0.224623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4688	1683.63	189	chr3	195779400	.	A	*	1683.63	.	AC=15;AF=0.469;AN=32;BaseQRankSum=-3.547;DP=3282;ExcessHet=0.2319;FS=1.813;InbreedingCoeff=0.242;MLEAC=17;MLEAF=0.531;MQ=55.64;MQRankSum=-11.35;QD=0.78;ReadPosRankSum=3.35;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	7	6	3	3
chr3	195779404	195779404	G	0	exonic	MUC4	.	.	.	.	476	823	94	122	7	345	0.170363	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3477.33	189	chr3	195779404	.	G	*	3477.33	.	AC=14;AF=0.389;AN=36;DP=3242;ExcessHet=0;FS=0.638;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=49.57;QD=2;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	10	6	2	1
chr3	195779410	195779410	A	0	exonic	MUC4	.	.	.	.	5	164	3	1	53	58	0.015015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779410	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.792;DP=3196;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.6;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	10	6	2	1
chr3	195779411	195779411	A	0	exonic	MUC4	.	.	.	.	505	777	88	120	32	360	0.174283	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	3370.6	189	chr3	195779411	.	A	*	3370.6	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-0.366;DP=3193;ExcessHet=0;FS=0.65;InbreedingCoeff=0.74;MLEAC=15;MLEAF=0.417;MQ=53.56;MQRankSum=1.33;QD=1.95;ReadPosRankSum=1.73;SOR=0.694	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	10	6	2	1
chr3	195779418	195779418	A	0	exonic	MUC4	.	.	.	.	494	812	89	120	7	336	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	3192.38	189	chr3	195779418	.	A	*	3192.38	.	AC=12;AF=0.353;AN=34;DP=3161;ExcessHet=0.0001;FS=0.615;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	10	5	2	2
chr3	195779420	195779422	CAT	0	exonic	MUC4	.	.	.	.	7	164	1	0	54	55	0.00303951	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4118	3190.95	189	chr3	195779420	.	CAT	*	3190.95	.	AC=14;AF=0.412;AN=34;DP=3185;ExcessHet=0;FS=0.65;InbreedingCoeff=0.7185;MLEAC=15;MLEAF=0.441;MQ=49.83;QD=1.85;SOR=0.696	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	9	6	2	2
chr3	195779431	195779431	G	0	exonic	MUC4	.	.	.	.	490	812	89	120	11	340	0.168459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	3191.99	189	chr3	195779431	.	G	*	3191.99	.	AC=12;AF=0.333;AN=36;DP=3005;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7221;MLEAC=13;MLEAF=0.361;MQ=49.83;QD=2.08;SOR=0.674	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	11	5	2	1
chr3	195779432	195779432	G	0	exonic	MUC4	.	.	.	.	488	764	33	32	205	302	0.0596923	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	6862.64	189	chr3	195779432	.	G	*	6862.64	.	AC=12;AF=0.353;AN=34;BaseQRankSum=1.82;DP=3050;ExcessHet=0.0001;FS=2.447;InbreedingCoeff=0.6915;MLEAC=13;MLEAF=0.382;MQ=58.49;MQRankSum=8.1;QD=4.01;ReadPosRankSum=-0.688;SOR=0.645	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	10	5	2	2
chr3	195779444	195779444	T	0	exonic	MUC4	.	.	.	.	6	161	4	0	55	59	0.0122699	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3317.78	189	chr3	195779444	.	T	*	3317.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=4.59;DP=2827;ExcessHet=0;FS=3.028;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.03;MQRankSum=1.77;QD=2.71;ReadPosRankSum=2.62;SOR=0.102	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	11	6	1	1
chr3	195779447	195779447	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3611	3285.78	189	chr3	195779447	.	C	*	3285.78	.	AC=13;AF=0.361;AN=36;BaseQRankSum=-2.025;DP=2844;ExcessHet=0;FS=1.652;InbreedingCoeff=0.937;MLEAC=14;MLEAF=0.389;MQ=54.09;MQRankSum=0.958;QD=2.68;ReadPosRankSum=1.99;SOR=0.272	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:1,160:161:99:.:.:7064,457,0:.	11	6	1	1
chr3	195779612	195779612	T	0	exonic	MUC4	.	.	.	.	599	673	33	49	168	299	0.0886933	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9936.45	223	chr3	195779612	.	T	*	9936.45	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.06;DP=3149;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7301;MLEAC=14;MLEAF=0.389;MQ=56.36;MQRankSum=3.81;QD=3.83;ReadPosRankSum=-0.184;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	10	6	2	1
chr3	195779614	195779614	T	0	exonic	MUC4	.	.	.	.	600	676	33	49	164	295	0.0883345	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9937.47	223	chr3	195779614	.	T	*	9937.47	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.18;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7271;MLEAC=15;MLEAF=0.417;MQ=56.23;MQRankSum=3.81;QD=3.83;ReadPosRankSum=0.136;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	10	6	2	1
chr3	195779615	195779615	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3889	9912.43	223	chr3	195779615	.	C	*	9912.43	.	AC=14;AF=0.389;AN=36;BaseQRankSum=2.27;DP=3131;ExcessHet=0;FS=0.615;InbreedingCoeff=0.7287;MLEAC=15;MLEAF=0.417;MQ=56.26;MQRankSum=3.86;QD=3.83;ReadPosRankSum=0.318;SOR=0.675	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	10	6	2	1
chr3	195779623	195779623	G	0	exonic	MUC4	.	.	.	.	548	729	34	47	164	292	0.0807062	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	9823.81	223	chr3	195779623	.	G	*	9823.81	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.2;DP=3131;ExcessHet=0;FS=1.316;InbreedingCoeff=0.7693;MLEAC=14;MLEAF=0.368;MQ=56.3;MQRankSum=3.87;QD=3.77;ReadPosRankSum=1.05;SOR=0.678	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	11	6	2	0
chr3	195779628	195779628	G	0	exonic	MUC4	.	.	.	.	61	94	11	17	43	88	0.193133	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	10317.3	223	chr3	195779628	.	G	*	10317.3	.	AC=14;AF=0.538;AN=26;BaseQRankSum=1.35;DP=2933;ExcessHet=0.002;FS=0.723;InbreedingCoeff=0.5476;MLEAC=19;MLEAF=0.731;MQ=56.44;MQRankSum=0.448;QD=4.3;ReadPosRankSum=-1.193;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	5	6	2	6
chr3	195779658	195779658	A	0	exonic	MUC4	.	.	.	.	544	791	3	17	167	204	0.0228536	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	2457.99	223	chr3	195779658	.	A	*	2457.99	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.12;DP=2993;ExcessHet=0;FS=0.688;InbreedingCoeff=0.7788;MLEAC=14;MLEAF=0.368;MQ=55.73;MQRankSum=0.326;QD=1.1;ReadPosRankSum=-0.172;SOR=0.67	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	11	6	2	0
chr3	195779659	195779663	CGGCT	0	exonic	MUC4	.	.	.	.	825	508	5	15	169	204	0.0333016	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5769	2306.53	112	chr3	195779659	.	CGGCT	*	2306.53	.	AC=15;AF=0.577;AN=26;BaseQRankSum=2.14;DP=2891;ExcessHet=0;FS=0.744;InbreedingCoeff=0.6696;MLEAC=20;MLEAF=0.769;MQ=53.89;MQRankSum=1.62;QD=1.11;ReadPosRankSum=0.401;SOR=0.643	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	5	7	1	6
chr3	195779676	195779676	A	0	exonic	MUC4	.	.	.	.	468	870	11	10	163	194	0.0175042	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3125	2274.57	157	chr3	195779676	.	A	*	2274.57	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-0.398;DP=2996;ExcessHet=0;FS=1.264;InbreedingCoeff=0.8688;MLEAC=11;MLEAF=0.344;MQ=54.34;MQRankSum=1.62;QD=1.98;ReadPosRankSum=2.7;SOR=0.528	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	11	5	0	3
chr3	195779678	195779678	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4333	5878.28	124	chr3	195779678	.	A	*	5878.28	.	AC=13;AF=0.433;AN=30;BaseQRankSum=1.34;DP=3041;ExcessHet=0;FS=0;InbreedingCoeff=0.6827;MLEAC=15;MLEAF=0.5;MQ=51.99;MQRankSum=3.07;QD=3.82;ReadPosRankSum=3.4;SOR=0.681	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	8	6	1	4
chr3	195779698	195779698	A	0	exonic	MUC4	.	.	.	.	13	166	3	2	42	49	0.020649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	2558.51	129	chr3	195779698	.	A	*	2558.51	.	AC=11;AF=0.423;AN=26;BaseQRankSum=2.63;DP=3146;ExcessHet=0;FS=0;InbreedingCoeff=0.5756;MLEAC=14;MLEAF=0.538;MQ=52.04;MQRankSum=3.14;QD=2.14;ReadPosRankSum=1.88;SOR=0.65	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:3,211:214:99:1|1:195779564_T_G:9078,544,0:195779564	7	5	1	6
chr3	195779882	195779882	G	0	exonic	MUC4	.	.	.	.	827	38	93	396	168	1053	0.920916	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5385	59846.4	195	chr3	195779882	.	G	*	59846.4	.	AC=14;AF=0.538;AN=26;BaseQRankSum=0.967;DP=4496;ExcessHet=0;FS=0;InbreedingCoeff=0.4742;MLEAC=18;MLEAF=0.692;MQ=59.04;MQRankSum=-0.232;QD=18.15;ReadPosRankSum=-0.056;SOR=0.438	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:2,153:157:99:1|1:195779842_GCTGA_*:6529,335,0:195779842	5	6	2	6
chr3	195781583	195781583	T	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2941	7231.06	732	chr3	195781583	.	T	*	7231.06	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-3.763;DP=9189;ExcessHet=8.9063;FS=5.102;InbreedingCoeff=-0.4615;MLEAC=11;MLEAF=0.324;MQ=57.68;MQRankSum=-7.567;QD=1.27;ReadPosRankSum=-4.714;SOR=1.174	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:397,61:463:99:.:.:937,0,21871:.	7	0	10	2
chr3	195781628	195781628	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	69413.1	655	chr3	195781628	.	C	*	69413.1	.	AC=18;AF=0.5;AN=36;BaseQRankSum=1.32;DP=6779;ExcessHet=0.0128;FS=0.963;InbreedingCoeff=0.468;MLEAC=19;MLEAF=0.528;MQ=55.59;MQRankSum=1.83;QD=11.34;ReadPosRankSum=1.72;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,202:437:99:1|0:195781618_GCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA_*:15021,7197,9014:195781618	5	5	8	1
chr3	195781829	195781829	C	0	exonic	MUC4	.	.	.	.	519	603	37	10	353	410	0.0451306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3333	658.06	322	chr3	195781829	.	C	*	658.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.153;DP=3409;ExcessHet=2.1068;FS=0;InbreedingCoeff=-0.0836;MLEAC=13;MLEAF=0.361;MQ=36.34;MQRankSum=-1.172;QD=0.24;ReadPosRankSum=-0.678;SOR=0.691	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:167,126:293:99:0|1:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2856,0,6420:195781775	7	1	10	1
chr3	195781996	195781996	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9584T:p.T3195I	.	438	1073	11	0	0	11	0.00509968	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.000680715796675	.	0.000199681	0.0029	0	0	0	0	0.0003	0	0.0064	1.29e-05	2	154602	rs553359649	0.0002	0.0002	0.0001	0.0003	0.0027	0.0002	0.0002	0.0024	0.0023	0	0.0002	0	0	0	0.0015	6.178e-05	0.0002	0.0027	5.911e-05	0.0001	8.658e-05	3.029e-05	0.0002	2.938e-05	2.133e-05	4.1e-05	2.731e-05	2.976e-05	0	0	0	0	0	0	9.485e-05	0	0.0002	0.032	0.63226	D	0.009	0.66756	D	.	.	.	.	.	.	.	.	.	.	1	0.19072	N	.	.	.	1.16	0.38073	T	-1.42	0.34992	N	0.087	0.06454	-1.0154	0.25207	T	0.044	0.18989	T	8	0.0055933893	0.00124	T	6.81E-4	0.00400	T	0.012	0.01476	.	.	0.0138822411134	0.00435	7.689607933966678E-4	0.00070	.	.	0.521981835365	0.41905	T	.	.	.	-0.307992	0.07926	T	-0.680186	0.06972	T	0.0172104104395593	0.00464	T	0.851115	0.53499	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.464	0.62898	A	.;.	.;.	1.295274	0.16964	12.88	0.78818462309405501	0.12466	0.00247	0.01365	N	AEFI	0.047472	0.07999	N	-1.19717036555302	0.05043	0.2289773	-1.28932571266452	0.04573	0.2160548	1.23697505538687E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.743	0.743	0.17496	0.260000	0.18192	-0.467000	0.09002	-1.176000	0.01393	0.002000	0.15269	0.000000	0.08366	0.002000	0.04165	0.3579:0.0:0.6421:0.0	3.255	0.06425	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001754	0.000000	0.015625	0.008929	0.000000	0.000000	0.000000	0.000000	0.02941	2566.14	312	chr3	195781996	.	G	A	2566.14	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-2.469;DP=3293;ExcessHet=0;FS=10.588;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=38.18;MQRankSum=2.47;QD=8.85;ReadPosRankSum=-0.72;SOR=1.26	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:188,102:290:99:1|0:195781775_CGGTGACAGGAAGAGAGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGCATGACCGGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAGGCT_C:2579,0,6008:195781775	16	0	1	2
chr3	195782411	195782411	G	C	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C9169G:p.L3057V	.	433	1031	56	0	2	58	0.02644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.0018974840316	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1158136848	0.0004	0.0010	0.0004	0.0004	0.0004	0.0004	0.0004	0.0003	0.0003	7.625e-05	0.0004	0.0015	3.796e-05	0.0015	0	0.0004	0.0006	0	0.0016	0.0052	0.0017	0.0014	0.0022	0.0014	0.0013	0.0019	0.0018	0.0006	0.0086	0.0011	0.0031	0	0.0015	0	0.0022	0.0005	0.0004	0.371	0.22660	T	0.666	0.06427	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.51	0.32482	T	-0.02	0.07299	N	0.043	0.01577	-1.0380	0.17924	T	0.029	0.12278	T	7	0.009854794	0.00221	T	0.001897	0.03351	T	0.010	0.01040	.	.	0.0297737177859	0.01360	1.492367004788712E-4	0.00012	.	.	0.472234934568	0.34987	T	.	.	.	-0.305642	0.08138	T	-0.67681	0.07180	T	0.0302767216235338	0.02032	T	0.807619	0.45757	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.28377	B	.;.	.;.	0.701192	0.10700	7.393	0.7859687701517204	0.12370	0.00224	0.01258	N	AEFBI	0.046021	0.07594	N	-1.07037780474094	0.07194	0.3334489	-1.266179450805	0.04896	0.2320322	1.15922054809651E-5	0.02871	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	.	.	.	0.360000	0.19987	-4.502000	0.02124	0.093000	0.17603	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.6539:0.0:0.3461:0.0	3.379	0.06826	601	0.67921	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	236.02	625	chr3	195782411	.	G	C	236.02	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.64;DP=7570;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=2;MLEAF=0.053;MQ=57.65;MQRankSum=-3.478;QD=0.19;ReadPosRankSum=-4.439;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:426,38:464:99:0|1:195782411_G_C:188,0,17634:195782411	17	0	2	0
chr3	195782558	195782558	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2308	41102.2	908	chr3	195782558	.	A	*	41102.2	.	AC=6;AF=0.231;AN=26;BaseQRankSum=1.27;DP=8955;ExcessHet=0;FS=0;InbreedingCoeff=0.7718;MLEAC=8;MLEAF=0.308;MQ=54.8;MQRankSum=-4.934;QD=12.17;ReadPosRankSum=1.41;SOR=0.717	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:105,121:434:99:.:.:6441,2663,15321:.	7	0	6	6
chr3	195782572	195782572	A	0	exonic	MUC4	.	.	.	.	613	867	19	6	17	48	0.0175637	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	2111.23	845	chr3	195782572	.	A	*	2111.23	.	AC=5;AF=0.25;AN=20;BaseQRankSum=3.65;DP=9235;ExcessHet=2.2993;FS=0;InbreedingCoeff=-0.2677;MLEAC=7;MLEAF=0.35;MQ=54.73;MQRankSum=-9.794;QD=0.84;ReadPosRankSum=-2.64;SOR=0.666	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:310,121:431:99:0|1:195782557_G_*:3196,0,19335:195782557	5	0	5	9
chr3	195782605	195782605	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15317.1	821	chr3	195782605	.	A	*	15317.1	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-1.5;DP=9299;ExcessHet=0.0001;FS=0.605;InbreedingCoeff=0.4242;MLEAC=8;MLEAF=0.333;MQ=53.4;MQRankSum=-2.794;QD=6.19;ReadPosRankSum=-1.596;SOR=0.643	GT:AD:DP:GQ:PL	0/1:148,121:288:99:3268,0,15767	6	0	6	7
chr3	195782644	195782644	T	0	exonic;splicing	MUC4;MUC4	NM_001322468:exon8:c.8263+1A>0	.	.	.	776	656	77	2	11	92	0.0581479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2273	1898.99	763	chr3	195782644	.	T	*	1898.99	.	AC=5;AF=0.227;AN=22;BaseQRankSum=3.18;DP=9257;ExcessHet=0.4971;FS=1.803;InbreedingCoeff=-0.0134;MLEAC=7;MLEAF=0.318;MQ=52.55;MQRankSum=-3.227;QD=0.69;ReadPosRankSum=1.25;SOR=0.873	GT:AD:DP:GQ:PL	0/1:413,121:542:99:3995,0,20098	6	0	5	8
chr3	195786289	195786289	G	T	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C5291A:p.T1764N,MUC4:NM_001322468:exon6:c.C5291A:p.T1764N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.096	0.00288369811063	.	.	.	.	.	.	.	.	.	.	.	.	.	rs762639759	7.305e-07	4.13e-06	0	1.481e-06	9.443e-07	0	0	.	.	0	0	0	0	0	0	9.443e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.257	0.23631	T	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	0.998872	0.45601	D	.	.	.	1.43	0.32958	T	-0.17	0.09627	N	0.066	0.08786	-1.0304	0.20325	T	0.048	0.20355	T	7	0.075591594	0.11701	T	0.002884	0.06074	T	0.096	0.27654	0.098	0.01383	0.0138822411134	0.00435	1.9107310317840158E-4	0.00017	.	.	0.574587523937	0.49325	T	.	.	.	-0.350662	0.04686	T	-0.741478	0.03829	T	0.196937739849091	0.20246	T	0.864413	0.56163	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.43640	B	.;.	.;.	1.199011	0.15912	12.19	0.69880203458573376	0.09114	0.04616	0.10276	N	AEFDBCI	0.082889	0.16788	N	-0.924947611451403	0.10260	0.4894898	-1.13182017946414	0.07099	0.3440407	6.09737466362473E-4	0.07437	0.569682	0.32691	0	0.446627	0.06534	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	.	.	.	1.860000	0.39068	-0.632000	0.08120	0.167000	0.17740	0.010000	0.18352	0.000000	0.08366	0.008000	0.08271	8.0E-4:0.0:0.9992:0.0	5.868	0.18034	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05556	10387.6	761	chr3	195786289	.	G	T	10387.6	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-0.556;DP=10516;ExcessHet=0.119;FS=2.009;InbreedingCoeff=-0.0704;MLEAC=2;MLEAF=0.056;MQ=59.69;MQRankSum=2.14;QD=7.31;ReadPosRankSum=0.666;SOR=0.633	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:512,207:719:99:1|0:195786231_A_G:6369,0,18753:195786231	16	0	2	1
chr3	195787234	195787234	G	0	exonic	MUC4	.	.	.	.	800	531	39	11	141	202	0.0543188	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	128.37	13	chr3	195787234	.	G	*	128.37	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-1.628;DP=361;ExcessHet=5.3738;FS=7.172;InbreedingCoeff=-0.2264;MLEAC=8;MLEAF=0.211;MQ=38.2;MQRankSum=-1.235;QD=1.18;ReadPosRankSum=-1.531;SOR=1.222	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:8,3:21:96:.:.:96,0,337:.	11	0	8	0
chr3	195787273	195787273	T	0	exonic	MUC4	.	.	.	.	903	371	151	74	23	322	0.287224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3290.32	7	chr3	195787273	.	T	*	3290.32	.	AC=7;AF=0.25;AN=28;BaseQRankSum=0.089;DP=300;ExcessHet=0.0073;FS=10.133;InbreedingCoeff=0.4493;MLEAC=9;MLEAF=0.321;MQ=37.73;MQRankSum=-0.235;QD=18.7;ReadPosRankSum=-0.328;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:1,3:12:84:0|1:195787238_C_*:393,277,327:195787238	7	0	7	5
chr3	195787579	195787579	G	0	exonic	MUC4	.	.	.	.	46	100	18	19	43	99	0.21875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	4502.91	22	chr3	195787579	.	G	*	4502.91	.	AC=11;AF=0.344;AN=32;DP=817;ExcessHet=0;FS=4.104;InbreedingCoeff=0.7912;MLEAC=13;MLEAF=0.406;MQ=51.17;QD=6.84;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:195787508_T_C:2071,139,0:195787508	10	5	1	3
chr3	195787584	195787584	A	0	exonic	MUC4	.	.	.	.	854	418	49	62	139	312	0.171457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4231	3569.69	15	chr3	195787584	.	A	*	3569.69	.	AC=11;AF=0.423;AN=26;DP=792;ExcessHet=0;FS=5.111;InbreedingCoeff=0.6864;MLEAC=15;MLEAF=0.577;MQ=50.02;QD=5.6;SOR=1.104	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:195787508_T_C:2071,139,0:195787508	7	5	1	6
chr3	195787598	195787601	GCAT	0	exonic	MUC4	.	.	.	.	748	628	1	6	139	152	0.0102443	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	725.76	4	chr3	195787598	.	GCAT	*	725.76	.	AC=11;AF=0.344;AN=32;DP=718;ExcessHet=0;FS=3.908;InbreedingCoeff=0.7404;MLEAC=14;MLEAF=0.438;MQ=42.8;QD=1.26;SOR=1.062	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:195787508_T_C:2071,139,0:195787508	10	5	1	3
chr3	195787599	195787599	C	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787599	.	C	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:195787508_T_C:2071,139,0:195787508	4	8	1	6
chr3	195787600	195787600	A	0	exonic	MUC4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6538	31.65	4	chr3	195787600	.	A	*	31.65	.	AC=17;AF=0.654;AN=26;DP=716;ExcessHet=0;FS=3.908;InbreedingCoeff=0.6864;MLEAC=23;MLEAF=0.885;MQ=39;QD=0.06;SOR=1.067	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,46:46:99:1|1:195787508_T_C:2071,139,0:195787508	4	8	1	6
chr3	195787651	195787651	G	A	exonic	MUC4	.	nonsynonymous SNV	MUC4:NM_018406:exon2:c.C3929T:p.A1310V,MUC4:NM_001322468:exon4:c.C3929T:p.A1310V	.	677	844	1	0	0	1	0.000592066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.000987050074551	.	.	.	.	.	.	.	.	.	.	0.0016521	43	26028	rs369467782	3.43e-05	0.0002	2.508e-05	4.323e-05	0.0004	2.353e-05	1.989e-05	0.0001	8.902e-05	0	3.514e-05	0	0	3.206e-05	0.0004	1.547e-05	6.183e-05	0.0002	0	1.069e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.473	0.08408	T	0.037	0.52060	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	1.59	0.29085	T	-0.13	0.08971	N	0.143	0.14338	-1.0020	0.29342	T	0.036	0.15596	T	8	0.006201923	0.00140	T	9.87E-4	0.01050	T	0.007	0.00512	0.187	0.09646	0.0138822411134	0.00435	2.6768136789778523E-4	0.00023	.	.	0.474425941706	0.35290	T	.	.	.	-0.352028	0.04601	T	-0.74344	0.03747	T	0.00168162824946241	0.00017	T	0.69993	0.30971	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.110	0.21163	B	.;.	.;.	0.290615	0.06670	3.171	0.96924675166215379	0.31632	0.00200	0.01150	N	AEFI	0.041652	0.06360	N	-1.3137078862287	0.03517	0.1572585	-1.43402867846011	0.02918	0.1351418	1.26513995383553E-5	0.02871	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	0.312	-0.624	0.10972	-0.350000	0.07769	-7.353000	0.01175	0.177000	0.17786	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.661:0.0:0.339:0.0	3.746	0.08074	604	0.67577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.128788	0.000000	0.150000	0.333333	0	0.000000	0.150000	0.000000	0.06667	75.25	1	chr3	195787651	.	G	A	75.25	.	AC=2;AF=0.067;AN=30;DP=177;ExcessHet=0;FS=0;InbreedingCoeff=0.2809;MLEAC=2;MLEAF=0.067;MQ=36.67;QD=27.68;SOR=2.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:195787508_T_C:90,6,0:195787508	14	1	0	4
chr3	196472505	196472505	C	T	exonic	RNF168	.	nonsynonymous SNV	RNF168:NM_152617:exon6:c.G1030A:p.A344T	RIDDLE syndrome, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	1154427	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.029	.	7.7e-05	0.0201677	0.0101	0.0003	0.0007	0.0102	0	0	0.0066	0.0681	0.0089197	1379	154602	rs143837151	0.0044	0.0044	0.0026	0.0063	0.0657	0.0043	0.0043	0.0642	0.0637	0.0002	0.0001	0	0.0095	0	0.0023	5.126e-05	0.0051	0.0657	0.0028	0.0028	0.0016	0.0040	0.0704	0.0025	0.0024	0.0642	0.0618	0.0002	0	0.0001	0	0.0123	0	0	5.881e-05	0.0009	0.0704	0.09	0.31987	T	0.17	0.30436	T	0.024	0.19075	B	0.008	0.13708	B	0.542405	0.11522	N	0.782596	1	0.08975	N	1.585	0.39878	L	2.93	0.09822	T	-0.55	0.16799	N	0.08	0.05542	-1.0109	0.26635	T	0.022	0.09421	T	10	0.0034058094	0.00060	T	.	.	.	0.029	0.06676	.	.	.	.	0.10308734749577732	0.10238	0.067048045344	0.07489	0.19515812397	0.00330	T	0.001958	0.01365	T	-0.675578	0.00051	T	-0.692146	0.06266	T	0.00279983423963199	0.00029	T	0.542646	0.18460	T	0.02367948	0.01129	0.033994835	0.02388	0.02367948	0.01129	0.033994835	0.02388	-3.536	0.16940	T	.	.	0.075	0.05579	B	.	.	0.236985	0.06174	2.625	0.97013527114413256	0.31993	0.06090	0.12064	N	AEFDGBI	0.035513	0.04585	N	-0.776778590308673	0.13917	0.6891587	-0.862733429440971	0.12982	0.6709204	0.00192574776603112	0.09011	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.46	0.563	0.16481	-0.283000	0.08467	-0.412000	0.09340	0.549000	0.26987	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.1392:0.5775:0.0:0.2833	4.917	0.13205	830	0.39242	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.005035	0.000000	0.000000	0.000000	0.000000	0.017241	0.000000	0.026515	0.05263	5852.83	35	chr3	196472505	.	C	T	5852.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.06;DP=1104;ExcessHet=0.119;FS=0.522;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.67;ReadPosRankSum=1.16;SOR=0.754	GT:AD:DP:GQ:PL	0/1:96,88:184:99:2352,0,2702	17	0	2	0
chr3	196508236	196508236	A	G	exonic	SMCO1	.	nonsynonymous SNV	SMCO1:NM_001077657:exon3:c.T296C:p.V99A,SMCO1:NM_001320473:exon3:c.T272C:p.V91A	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	.	.	0.0247604	0.0137	0.0002	0.0008	0.0102	0	1.498e-05	0.0078	0.0934	0.011908	1841	154602	rs118152136	0.0060	0.0060	0.0035	0.0085	0.0912	0.0059	0.0059	0.0895	0.0888	0.0003	0.0002	0	0.0096	0	0.0024	6.835e-05	0.0071	0.0912	0.0036	0.0035	0.0019	0.0053	0.0949	0.0033	0.0032	0.0878	0.0849	0.0002	0	0.0001	0	0.0124	0	0	5.88e-05	0.0014	0.0949	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.98502	0.24748	N	1.95	0.52479	M	1.06	0.39781	T	0.67	0.02263	N	0.019	0.00279	-1.0016	0.29459	T	0.034	0.14813	T	9	0.0012427568	0.00014	T	.	.	.	0.116	0.32463	.	.	.	.	0.047299551094572775	0.04672	0.269601559135	0.29478	.	.	.	0.00203	0.01442	T	-0.669071	0.00056	T	-0.66267	0.08086	T	0.00748855217213379	0.00087	T	0.387861	0.09571	T	0.028127715	0.02105	0.058714386	0.10896	0.028127715	0.02104	0.058714386	0.10895	-3.203	0.12517	T	.	.	0.139	0.30450	B	.	.	0.060417	0.04716	1.350	0.86693008397666127	0.16708	0.03899	0.09275	N	AEFDBIJ	0.046932	0.07849	N	-0.860176934644316	0.11800	0.5714887	-0.776231268759997	0.15079	0.7912207	0.999957956758676	0.48110	0.446893	0.09132	0	0.547309	0.14657	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	-1.7	0.07721	-0.470000	0.06717	0.153000	0.15315	-0.045000	0.17359	0.000000	0.06391	0.000000	0.08366	0.959000	0.51448	0.2974:0.3144:0.2361:0.1521	0.916	0.01223	824	0.40336	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.009567	0.000000	0.000000	0.000000	0.000000	0.017241	0.006098	0.037879	0.05263	3946.83	34	chr3	196508236	.	A	G	3946.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.83;DP=879;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.8;ReadPosRankSum=0.486;SOR=0.7	GT:AD:DP:GQ:PL	0/1:79,71:150:99:1848,0,2050	17	0	2	0
chr3	197839362	197839362	A	C	exonic	LRCH3	.	nonsynonymous SNV	LRCH3:NM_001363887:exon10:c.A1293C:p.K431N,LRCH3:NM_001365715:exon10:c.A1293C:p.K431N,LRCH3:NM_001365716:exon10:c.A1293C:p.K431N,LRCH3:NM_001365717:exon10:c.A1293C:p.K431N,LRCH3:NM_001365718:exon10:c.A1293C:p.K431N,LRCH3:NM_001365719:exon10:c.A1293C:p.K431N,LRCH3:NM_032773:exon10:c.A1293C:p.K431N	.	434	1076	11	1	0	13	0.00600462	.	.	.	3190643	LRCH3-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.0153412023487	0.0020	0.000798722	0.0015	0.0005	0.0013	0	0.0006	0.0023	0.0044	0.0001	0.0015071	233	154602	rs148665137	0.0015	0.0015	0.0014	0.0015	0.0119	0.0014	0.0014	0.0096	0.0088	0.0005	0.0018	0.0003	0	0.0004	0.0119	0.0016	0.0018	0.0002	0.0016	0.0016	0.0015	0.0016	0.0029	0.0014	0.0013	0.0023	0.0020	0.0005	0	0.0029	0	0	0.0003	0.0204	0.0023	0.0043	0.0004	0.018	0.52492	D	0.118	0.47581	T	0.835	0.49920	P	0.466	0.53279	P	0.000015	0.62929	D	0.138084	0.965625	0.26534	N	1.15	0.29295	L	2.06	0.31987	T	-1.72	0.41428	N	0.241	0.31478	-0.9672	0.37774	T	0.132	0.44307	T	10	0.0074974895	0.00170	T	0.015341	0.36015	T	0.059	0.16972	0.324	0.30549	0.381409048467	0.37754	0.2559485291612534	0.25508	0.291397255534	0.31546	0.526741325855	0.42575	T	0.026482	0.19590	T	-0.458273	0.01008	T	-0.436602	0.29188	T	0.0257361292577392	0.01370	T	0.957604	0.84033	D	0.21015398	0.43303	0.19592808	0.43296	0.21015398	0.43303	0.19592808	0.43295	-3.433	0.16445	T	.	.	0.395	0.63267	A	.;.;.;.;.;.	.;.;.;.;.;.	3.406218	0.47225	22.4	0.99806354933162489	0.89085	0.95075	0.63346	D	AEFBI	0.339824	0.43684	N	0.237764321041102	0.53037	3.474513	0.358728232761598	0.59036	4.078101	0.994467855849204	0.33649	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.74	5.74	0.90070	3.654000	0.54193	7.872000	0.72015	0.754000	0.88378	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.8866:0.0:0.1134:0.0	10.523	0.44117	856	0.34373	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.012097	0.005102	0.020380	0.026316	0.000000	0.008621	0.003049	0.000000	0.07895	3008.79	34	chr3	197839362	.	A	C	3008.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.014;DP=817;ExcessHet=0.3672;FS=2.656;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.19;ReadPosRankSum=0.2;SOR=0.551	GT:AD:DP:GQ:PL	0/1:44,59:103:99:1404,0,980	16	0	3	0
chr4	272166	272166	T	C	exonic	ZNF732	.	nonsynonymous SNV	ZNF732:NM_001137608:exon4:c.A691G:p.I231V	.	419	1096	5	2	0	9	0.00408905	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.000764672128026	0.0015	0.000998403	0.0016	0.0002	0.0013	0	0	0.0021	0.0012	0.0023	0.0014489	224	154602	rs144919218	0.0020	0.0020	0.0020	0.0021	0.0024	0.0020	0.0020	0.0022	0.0022	0.0002	0.0012	0.0017	2.523e-05	0.0001	0.0024	0.0023	0.0022	0.0021	0.0013	0.0013	0.0015	0.0011	0.0023	0.0011	0.0011	0.0020	0.0019	0.0003	0	0.0007	0.0009	0	9.464e-05	0	0.0023	0.0014	0.0019	0.222	0.18823	T	0.123	0.35582	T	0.016	0.17332	B	0.015	0.17295	B	.	.	.	.	1	0.08975	N	-0.335	0.03518	N	2.34	0.16351	T	0.61	0.02480	N	0.051	0.02272	-0.9812	0.34724	T	0.013	0.05273	T	9	0.012317002	0.00265	T	7.65E-4	0.00549	T	0.072	0.21020	.	.	0.0138822411134	0.00435	0.00204553568814534	0.00189	0.018289461423	0.01786	0.287587076426	0.08571	T	0.001919	0.01337	T	-0.724101	0.00026	T	-0.819373	0.01465	T	0.00118991917286493	0.00012	T	0.131687	0.01039	T	0.024258869	0.01240	0.04367557	0.05487	0.024258869	0.01240	0.04367557	0.05487	-2.575	0.06315	T	.	.	0.076	0.05979	B	.;.	.;.	-0.468614	0.01970	0.171	0.76111669369923041	0.11337	0.00669	0.02886	N	AEFGBCI	0.032875	0.03794	N	-1.28412719342455	0.03866	0.1734751	-1.32394777230922	0.04123	0.1937903	0.00193757712823218	0.09019	0.460665	0.09802	0	0.573888	0.26702	0	0.575934	0.27490	0	0.613276	0.41899	0	.	.	0.946	-0.308	0.12139	-2.502000	0.01042	.	.	-0.581000	0.04707	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.2852:0.0:0.7148	3.942	0.08827	958	0.09170	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	0.002648	0.000000	0.001359	0.000000	0.000000	0.000000	0.012346	0.003788	0.02632	953.33	41	chr4	272166	.	T	C	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.366;DP=777;ExcessHet=0;FS=2.916;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.35;ReadPosRankSum=-1.16;SOR=0.602	GT:AD:DP:GQ:PL	0/1:46,38:84:99:967,0,1201	18	0	1	0
chr4	6112788	6112788	C	T	exonic	JAKMIP1	.	nonsynonymous SNV	JAKMIP1:NM_001099433:exon2:c.G63A:p.M21I,JAKMIP1:NM_001306133:exon2:c.G63A:p.M21I,JAKMIP1:NM_001306134:exon2:c.G63A:p.M21I,JAKMIP1:NM_144720:exon2:c.G63A:p.M21I	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00779733033995	.	.	0.0002	0	0	0	0	1.5e-05	0.0011	0.0014	0.0001617	25	154602	rs771507170	8.62e-05	8.687e-05	2.995e-05	0.0001	0.0013	7.354e-05	6.903e-05	0.0011	0.0011	0	0	0	0	0	0.0003	6.295e-06	4.968e-05	0.0013	6.564e-05	6.561e-05	1.284e-05	0.0001	0.0019	3.513e-05	2.614e-05	0.0010	0.0007	0	0	0	0	0	0	0	0	0.0005	0.0019	0.026	0.46910	D	0.015	0.61642	D	0.001	0.11197	B	0.001	0.10090	B	0.000751	0.42006	D	0.160941	0.879297	0.28077	N	0	0.06538	N	1.58	0.29085	T	-0.69	0.19720	N	0.239	0.28732	-1.0533	0.13493	T	0.037	0.15943	T	10	0.015848577	0.00333	T	0.007797	0.20694	T	0.039	0.10176	0.17	0.07536	0.292942362817	0.28906	0.12401586335035553	0.12327	0.730299924381	0.62702	0.513253033161	0.40678	T	0.055062	0.29901	T	-0.487104	0.00674	T	-0.518019	0.20495	T	0.0641444451767835	0.07803	T	0.967503	0.88224	D	0.14706887	0.33638	0.16117856	0.37504	0.20515357	0.42648	0.15562008	0.36470	-3.508	0.16543	T	0.097980507310446	0.06955	0.145	0.43935	B	.;.;.;.;.	.;.;.;.;.	2.924542	0.38838	20.8	0.9912410665730812	0.53063	0.61249	0.31430	D	AEFDBI	0.174034	0.30114	N	-0.33471367790272	0.27837	1.530558	-0.154643630471496	0.33230	1.898689	0.991355568499298	0.32460	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	3.94	3.94	0.44807	0.637000	0.24348	2.517000	0.33102	0.549000	0.26987	0.999000	0.42656	1.000000	0.68203	0.942000	0.48361	0.3481:0.6518:0.0:0.0	9.264	0.36792	994	0.00715	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1650.33	46	chr4	6112788	.	C	T	1650.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=834;ExcessHet=0;FS=0.635;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.79;ReadPosRankSum=0.703;SOR=0.602	GT:AD:DP:GQ:PL	0/1:72,68:140:99:1664,0,1659	18	0	1	0
chr4	6862306	6862306	T	C	exonic	KIAA0232	.	nonsynonymous SNV	KIAA0232:NM_001100590:exon6:c.T1924C:p.S642P,KIAA0232:NM_014743:exon7:c.T1924C:p.S642P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.00517274981781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049661710	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.571e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.005	0.63226	D	0.024	0.56640	D	0.01	0.15535	B	0.01	0.14941	B	0.002610	0.36243	N	0.335799	0.997385	0.43845	D	1.845	0.48678	L	.	.	.	-1.21	0.30762	N	0.255	0.28849	-0.8699	0.50537	T	0.178	0.52350	T	9	0.10915744	0.20352	T	0.005173	0.13156	T	0.057	0.16321	0.471	0.54537	0.0675242888579	0.06100	0.46100661359438516	0.46018	0.236252140533	0.26164	0.507156848907	0.39825	T	0.032907	0.22691	T	-0.0647136	0.42169	T	-0.330733	0.41388	T	0.740678250789642	0.42773	D	0.785921	0.42389	T	0.33447877	0.55835	0.22762217	0.47778	0.33447877	0.55835	0.22762217	0.47777	-4.395	0.29489	T	.	.	0.096	0.18950	B	.;.	.;.	2.849310	0.37614	20.5	0.99790826753695638	0.87661	0.97746	0.76833	D	AEFBI	0.619401	0.60485	D	-0.157216252661344	0.34928	1.999906	-0.0453646344165534	0.37692	2.210343	0.99990703318278	0.45458	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.73	1.7	0.23359	2.683000	0.46609	0.685000	0.20714	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0737:0.2877:0.6386	6.857	0.23230	682	0.59757	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	6195.3	135	chr4	6862306	.	T	C	6195.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.635;DP=2656;ExcessHet=38.2876;FS=246.725;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.43;ReadPosRankSum=1.38;SOR=13.192	GT:AD:DP:GQ:PL	0/1:102,49:151:99:484,0,2264	1	0	18	0
chr4	7061167	7061167	C	T	exonic	GRPEL1	.	nonsynonymous SNV	GRPEL1:NM_025196:exon4:c.G349A:p.V117I	.	431	1089	2	0	0	2	0.000917431	.	.	.	2822397	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.194	0.00215472065373	0.0028	0.00219649	0.0010	0.0077	0.0003	0.0013	0	0.0004	0	6.426e-05	0.0008797	136	154602	rs146608974	0.0005	0.0005	0.0005	0.0004	0.0093	0.0004	0.0004	0.0084	0.0081	0.0093	0.0005	0.0052	0.0008	0	0.0002	7.915e-05	0.0010	0.0002	0.0024	0.0024	0.0024	0.0023	0.0079	0.0022	0.0021	0.0072	0.0069	0.0079	0	0.0006	0.0026	0.0008	0	0	8.819e-05	0.0028	0	1.0	0.00964	T	1.0	0.01155	T	0.002	0.09854	B	0.005	0.11217	B	0.000002	0.62929	N	0.099846	0.845621	0.28569	N	-0.78	0.01655	N	.	.	.	0.4	0.03463	N	0.047	0.01911	-1.0507	0.14203	T	0.024	0.10419	T	9	0.011043102	0.00243	T	0.002155	0.04016	T	0.194	0.47447	.	.	0.123314135267	0.11883	0.18344846698503278	0.18263	0.183386769954	0.20629	0.313295125961	0.12405	T	0.008995	0.08221	T	-0.557441	0.00263	T	-0.567529	0.15677	T	0.000377325581395349	0.00003	T	0.714629	0.32694	T	0.02086908	0.00663	0.027620196	0.00929	0.02086908	0.00662	0.027620196	0.00928	-0.927	0.00922	T	.	.	0.078	0.06849	B	.	.	1.064295	0.14465	11.03	0.72926837353344776	0.10145	0.58623	0.30692	D	AEFGBCI	0.035441	0.04561	N	-0.771954297293717	0.14044	0.6964602	-0.570176307906574	0.20272	1.091452	0.999906993208208	0.45458	0.719381	0.83141	0	0.702456	0.74545	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.65	3.29	0.36801	3.137000	0.50257	0.668000	0.20568	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.828000	0.39026	0.0:0.2269:0.0:0.7731	8.392	0.31691	872	0.31118	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	1994.33	34	chr4	7061167	.	C	T	1994.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.54;DP=779;ExcessHet=0;FS=2.053;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.3;ReadPosRankSum=-0.917;SOR=0.919	GT:AD:DP:GQ:PL	0/1:74,76:150:99:2008,0,1854	18	0	1	0
chr4	7193083	7193083	C	G	exonic	SORCS2	.	nonsynonymous SNV	SORCS2:NM_020777:exon1:c.C437G:p.T146R	.	418	1099	5	0	0	5	0.00226963	.	.	.	2360995	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.119	0.484258923036	.	0.000199681	0.0003	0	0.0007	0	0	0.0001	0	0.0012	0.0001358	21	154602	rs558449809	0.0001	0.0001	9.46e-05	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	3.354e-05	0.0003	0	0	0	0.0004	8.219e-05	0.0002	0.0009	0.0002	0.0002	0.0002	0.0003	0.0012	0.0002	0.0001	0.0008	0.0006	4.811e-05	0	0.0012	0	0	0	0	0.0001	0.0005	0.0008	0.012	0.54683	D	0.017	0.60337	D	0.988	0.62325	D	0.781	0.57337	P	.	.	.	.	0.973567	0.39034	D	1.59	0.40313	L	1.95	0.22474	T	-1.53	0.37178	N	0.175	0.18784	-1.1283	0.01865	T	0.068	0.27845	T	9	0.06800559	0.09557	T	0.484259	0.94893	D	0.119	0.33137	.	.	0.680186721519	0.67746	0.37767319533967264	0.37682	0.432164153585	0.43397	0.918384432793	0.98198	D	0.008714	0.07985	T	-0.399525	0.02332	T	-0.432171	0.29690	T	0.496945381164551	0.32518	T	0.80032	0.44603	T	0.23133607	0.45903	0.377693	0.62863	0.23133607	0.45903	0.377693	0.62863	-14.21	0.93718	D	.	.	0.590	0.68470	P	.	.	4.134838	0.61910	24.4	0.98771779273222993	0.45986	0.74224	0.36307	D	AEFDBCI	0.299431	0.40849	N	0.292352461185745	0.55761	3.740162	0.259828042500006	0.53211	3.491134	0.999999995935469	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.606884	0.38211	0	0.63947	0.58350	0	.	.	3.88	3.88	0.43959	2.617000	0.46049	7.097000	0.57524	0.441000	0.21086	0.020000	0.19661	1.000000	0.68203	0.991000	0.66497	0.0:0.8908:0.0:0.1092	9.417	0.37693	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002538	0.000000	0.002725	0.000000	0.000000	0.000000	0.003125	0.007634	0.02632	1254.33	34	chr4	7193083	.	C	G	1254.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.47;DP=706;ExcessHet=0;FS=0.76;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.07;ReadPosRankSum=-0.543;SOR=0.598	GT:AD:DP:GQ:PL	0/1:45,51:96:99:1268,0,1022	18	0	1	0
chr4	10443571	10443571	C	T	exonic	ZNF518B	.	nonsynonymous SNV	ZNF518B:NM_001375817:exon2:c.G2758A:p.A920T,ZNF518B:NM_001375816:exon3:c.G2758A:p.A920T,ZNF518B:NM_053042:exon3:c.G2758A:p.A920T	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.0063009351165	.	0.00119808	0.0012	0	8.648e-05	0	0	0	0	0.0086	0.0009702	150	154602	rs558440989	0.0006	0.0006	0.0003	0.0008	0.0092	0.0005	0.0005	0.0087	0.0084	2.987e-05	0	0	2.519e-05	0	0.0003	1.169e-05	0.0006	0.0092	0.0002	0.0002	0.0001	0.0003	0.0073	0.0002	0.0002	0.0054	0.0047	2.407e-05	0	0	0	0	0	0	0	0	0.0073	0.001	0.78490	D	0.012	0.63918	D	0.016	0.17332	B	0.017	0.18140	B	0.001354	0.39310	N	0.177133	0.982945	0.24924	N	1.67	0.42885	L	4.71	0.01655	T	-1.0	0.26422	N	0.117	0.10626	-0.9459	0.41665	T	0.005	0.01833	T	10	0.0072772503	0.00166	T	0.006301	0.16551	T	0.053	0.14996	0.353	0.35246	0.043077524339	0.03247	0.13928643952740785	0.13851	0.0164635354854	0.01586	0.433574855328	0.29698	T	0.024311	0.18392	T	-0.529978	0.00384	T	-0.528222	0.19465	T	0.0466878070736073	0.04909	T	0.610139	0.23115	T	0.12458756	0.29228	0.11380789	0.27469	0.12458756	0.29228	0.11380789	0.27468	-2.818	0.08350	T	.	.	0.106	0.19478	B	.	.	1.884488	0.23939	16.21	0.9923633490160173	0.56405	0.80831	0.40370	D	AEFBCI	0.080062	0.16180	N	-0.482131183637459	0.22667	1.211916	-0.420606333599121	0.24394	1.335498	0.994403072892731	0.33622	0.722319	0.85440	0	0.643519	0.57511	0	0.658983	0.55881	0	0.735409	0.98432	0	.	.	6.01	1.15	0.19876	1.653000	0.36940	0.588000	0.19789	0.599000	0.40250	0.872000	0.30832	0.073000	0.22253	0.992000	0.67800	0.2544:0.5405:0.0:0.2051	4.863	0.12953	584	0.69381	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1847.33	33	chr4	10443571	.	C	T	1847.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.705;DP=786;ExcessHet=0;FS=2.122;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.2;ReadPosRankSum=0.345;SOR=0.527	GT:AD:DP:GQ:PL	0/1:64,76:140:99:1861,0,1753	18	0	1	0
chr4	15707565	15707565	C	T	exonic	BST1	.	nonsynonymous SNV	BST1:NM_004334:exon3:c.C370T:p.R124C	.	426	1095	1	0	0	1	0.000456413	.	.	.	748785	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.185	.	0.0002	0.00379393	0.0011	0.0002	8.637e-05	0.0121	0	4.495e-05	0	0.0012	0.0010479	162	154602	rs78449217	0.0005	0.0005	0.0004	0.0005	0.0085	0.0004	0.0004	0.0078	0.0075	5.974e-05	6.708e-05	0	0.0085	0	0	0.0001	0.0017	0.0011	0.0006	0.0006	0.0005	0.0007	0.0110	0.0005	0.0005	0.0087	0.0079	7.231e-05	0	0.0002	0	0.0110	0	0	0.0001	0.0019	0.0029	0.004	0.65419	D	0.007	0.70582	D	1.0	0.90584	D	0.893	0.63340	P	0.000100	0.51296	D	0.179398	0.999591	0.20909	N	2.67	0.78151	M	2.29	0.17113	T	-5.32	0.86222	D	0.589	0.60918	-1.0561	0.12750	T	0.070	0.28412	T	10	0.007687807	0.00175	T	.	.	.	0.185	0.45933	.	.	0.295623431141	0.29171	0.4096348298986675	0.40879	0.761930771013	0.64304	0.355303823948	0.18701	T	0.298655	0.67121	T	-0.358798	0.04198	T	-0.277777	0.47030	T	0.0880196955693085	0.10981	T	0.872413	0.58632	D	0.55357164	0.70154	0.47671518	0.69681	0.55357164	0.70155	0.47671518	0.69681	-4.16	0.26170	T	.	.	0.257	0.56449	B	.;.	.;.	3.546677	0.49836	22.8	0.99880830426995759	0.95733	0.08290	0.14238	N	ALL	0.192850	0.31999	N	0.100854153002482	0.46501	2.889625	-0.0857863271747508	0.35977	2.08796	0.999999930865036	0.74766	0.706298	0.61202	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	5.53	3.8	0.42887	2.244000	0.42775	3.938000	0.40583	0.599000	0.40250	0.052000	0.21487	0.237000	0.23824	0.174000	0.21107	0.1674:0.6716:0.161:0.0	9.032	0.35429	634	0.64659	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	1700.33	34	chr4	15707565	.	C	T	1700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.423;DP=791;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-1.326;SOR=0.709	GT:AD:DP:GQ:PL	0/1:94,75:169:99:1714,0,2330	18	0	1	0
chr4	25862787	25862789	TGC	-	exonic	SEL1L3	.	nonframeshift deletion	SEL1L3:NM_015187:exon1:c.48_50del:p.Q17del	.	477	1035	9	0	1	10	0.004329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370347220	1.832e-05	0.0004	1.097e-05	2.651e-05	2.015e-05	1.171e-05	9.44e-06	1.259e-05	1.039e-05	0	0	0	0	0	0	2.015e-05	2.485e-05	0	6.712e-06	1.979e-05	1.309e-05	0	.	0	0	.	.	0	0	0	0	0	0.0001	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	40.57	20	chr4	25862786	.	TTGC	T	40.57	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.897;DP=192;ExcessHet=0;FS=0;InbreedingCoeff=-0.0423;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=3.38;ReadPosRankSum=0.646;SOR=0.693	GT:AD:DP:GQ:PL	0/1:10,2:12:54:54,0,414	18	0	1	0
chr4	26673793	26673793	A	G	exonic	TBC1D19	.	nonsynonymous SNV	TBC1D19:NM_001292054:exon8:c.A526G:p.S176G,TBC1D19:NM_018317:exon11:c.A721G:p.S241G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	0.0077	0.00798722	0.0021	0.0246	0.0003	0	0	3.173e-05	0.0012	6.595e-05	0.0019469	301	154602	rs16878555	0.0006	0.0006	0.0007	0.0005	0.0234	0.0006	0.0006	0.0220	0.0215	0.0234	0.0007	0	0	0	0.0005	1.535e-05	0.0012	6.97e-05	0.0064	0.0065	0.0067	0.0062	0.0226	0.0061	0.0060	0.0214	0.0209	0.0226	0	0.0019	0	0	0	0	2.942e-05	0.0047	0.0002	0.118	0.34982	T	0.211	0.35205	T	0.0	0.02946	B	0.0	0.01387	B	0.000000	0.84330	D	0.039134	0.999995	0.58761	D	2.045	0.56016	M	0.91	0.46028	T	-0.72	0.22944	N	0.184	0.19995	-1.0974	0.04420	T	0.029	0.12497	T	10	0.0053832233	0.00118	T	.	.	.	0.090	0.26093	.	.	0.553913597673	0.55050	0.47403113405047187	0.47322	0.269854934135	0.29508	0.493964850903	0.37989	T	0.03936	0.25161	T	-0.51212	0.00488	T	-0.489477	0.23448	T	0.0120411407257514	0.00190	T	0.835616	0.50622	T	0.21552318	0.43987	0.17673543	0.40228	0.21552318	0.43987	0.17673543	0.40227	-4.639	0.32658	T	.	.	0.219	0.54761	B	.;.;.;.	.;.;.;.	2.884514	0.38179	20.7	0.99223959344419965	0.55994	0.97786	0.77123	D	AEFBI	0.488156	0.52660	N	0.00515367208645484	0.42089	2.529473	0.172264828668429	0.48332	3.050654	0.990472750754274	0.32165	0.615465	0.37627	0	0.588015	0.36545	0	0.618467	0.43123	0	0.655142	0.61905	0	.	.	5.1	5.1	0.68917	5.144000	0.64675	7.978000	0.76064	0.691000	0.84096	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	1.0:0.0:0.0:0.0	15.189	0.72714	751	0.51694	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.001359	0.005848	0.000000	0.000000	0.003049	0.000000	0.05263	2094.83	34	chr4	26673793	.	A	G	2094.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.32;DP=746;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.244;SOR=0.73	GT:AD:DP:GQ:PL	0/1:51,40:91:99:915,0,1191	17	0	2	0
chr4	30722771	30722771	G	A	exonic	PCDH7	.	nonsynonymous SNV	PCDH7:NM_001173523:exon1:c.G1349A:p.R450Q,PCDH7:NM_002589:exon1:c.G1349A:p.R450Q,PCDH7:NM_032456:exon1:c.G1349A:p.R450Q,PCDH7:NM_032457:exon1:c.G1349A:p.R450Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.0174301157975	.	.	8.366e-06	0	0	0.0001	0	0	0	0	6.5e-06	1	154602	rs745880446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.569e-06	6.566e-06	0	1.345e-05	2.411e-05	0	0	.	.	2.411e-05	0	0	0	0	0	0	0	0	0	0.004	0.65419	D	0.026	0.55759	D	1.0	0.90584	D	0.984	0.76113	D	.	.	.	.	0.994151	0.42180	D	1.575	0.39704	L	0.64	0.52867	T	-2.39	0.54546	N	0.564	0.60664	-0.5946	0.65036	T	0.260	0.63099	T	9	0.5881454	0.66228	D	0.01743	0.39125	T	0.284	0.60219	0.483	0.56462	0.581788271231	0.57850	0.6674010942959742	0.66678	.	.	0.770366609097	0.77480	T	0.064372	0.32416	T	0.00933874	0.52935	T	-0.224362	0.52315	T	0.920169174671173	0.57921	D	0.972203	0.89922	D	0.31691182	0.54378	0.2786529	0.53827	0.31691182	0.54378	0.2786529	0.53826	-6.725	0.51999	T	.	.	0.196	0.41738	B	.;.	.;.	4.919259	0.81005	27.4	0.99914431487748112	0.98309	0.92590	0.56070	D	AEFDGBCI	0.876994	0.80134	D	0.772639158315068	0.84368	8.268638	0.782213220073283	0.88531	9.616945	0.999999999998238	0.74766	0.65757	0.49021	0	0.59043	0.45803	0	0.619478	0.44681	0	0.372554	0.06265	0	.	.	5.48	5.48	0.80675	6.775000	0.74812	11.895000	0.99196	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	19.349	0.94365	488	0.76887	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	.	.	.	.	.	.	.	.	0.02632	2933.33	40	chr4	30722771	.	G	A	2933.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=877;ExcessHet=0;FS=1.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.64;ReadPosRankSum=-0.656;SOR=0.768	GT:AD:DP:GQ:PL	0/1:114,118:232:99:2947,0,2599	18	0	1	0
chr4	36281955	36281955	C	T	exonic	DTHD1	.	nonsynonymous SNV	DTHD1:NM_001170700:exon1:c.C197T:p.S66L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.644e-07	1.368e-06	1.499e-06	0	9.689e-07	0	0	.	.	0	0	0	0	0	0	9.689e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998829	0.21877	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.13528085	0.25743	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.457954	0.13172	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.33412	B	.	.	2.229312	0.28453	17.80	0.75885232088475441	0.11249	0.08174	0.14135	N	AEFBI	.	.	.	.	.	.	.	.	.	0.999969990169048	0.48965	0.053691	0.00478	0	0.060609	0.00678	0	0.063197	0.01477	0	0.057018	0.00518	0	0.722056	0.43501	5.54	3.71	0.41733	0.710000	0.25421	1.363000	0.25896	0.599000	0.40250	0.015000	0.19116	0.011000	0.20116	0.003000	0.05239	0.0:0.7823:0.1414:0.0763	9.871	0.40343	686	0.59327	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	431.33	33	chr4	36281955	.	C	T	431.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.502;DP=663;ExcessHet=0;FS=1.137;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.59;ReadPosRankSum=2.17;SOR=0.519	GT:AD:DP:GQ:PL	0/1:26,19:45:99:445,0,610	18	0	1	0
chr4	39115178	39115178	A	T	exonic	KLHL5	.	nonsynonymous SNV	KLHL5:NM_199039:exon9:c.A1738T:p.M580L,KLHL5:NM_001171654:exon10:c.A1498T:p.M500L,KLHL5:NM_015990:exon10:c.A1921T:p.M641L,KLHL5:NM_001007075:exon11:c.A1921T:p.M641L	.	431	1089	2	0	0	2	0.000917431	.	.	.	2672435	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.049	0.0140531668623	0.0009	0.000199681	0.0013	0.0003	0.0009	0	0.0014	0.0019	0	0.0005	0.0012354	191	154602	rs148371989	0.0014	0.0014	0.0015	0.0014	0.0018	0.0014	0.0013	0.0015	0.0015	0.0003	0.0018	0.0015	0	0.0010	0.0010	0.0016	0.0014	0.0002	0.0014	0.0014	0.0014	0.0014	0.0041	0.0013	0.0012	0.0032	0.0030	0.0004	0	0.0041	0.0003	0	0.0009	0	0.0018	0.0019	0	0.012	0.54683	D	0.125	0.35330	T	0.001	0.11197	B	0.016	0.17743	B	0.000071	0.52346	D	0.254899	0.529093	0.31506	N	0.49	0.13296	N	-1.07	0.76948	T	-0.86	0.23372	N	0.285	0.39356	-0.7817	0.56206	T	0.220	0.58345	T	10	0.024781168	0.00694	T	0.014053	0.33902	T	0.264	0.57741	0.338	0.32816	0.680885744014	0.67817	0.09243696715219937	0.09175	0.321520750167	0.34353	0.493598252535	0.37938	T	0.202333	0.56048	T	-0.339865	0.05397	T	-0.257243	0.49099	T	0.0211525635329985	0.00817	T	0.877212	0.60417	D	0.12230421	0.28743	0.16655299	0.38472	0.12230421	0.28743	0.16655299	0.38471	-3.894	0.22212	T	.	.	0.100	0.17953	B	.;.;.;.;.	.;.;.;.;.	2.179954	0.27787	17.58	0.90757521411027398	0.20007	0.31527	0.24360	N	AEFDBI	0.200631	0.32735	N	-0.689612233884166	0.16316	0.8302106	-0.58485393658787	0.19887	1.069054	0.997569780044731	0.35763	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	6.06	-0.504	0.11398	0.289000	0.18713	2.947000	0.35694	0.756000	0.94297	0.018000	0.19461	0.963000	0.29397	1.000000	0.97212	0.541:0.0:0.459:0.0	11.421	0.49223	494	0.76445	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002518	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	775.33	34	chr4	39115178	.	A	T	775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.11;DP=1011;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=-0.376;SOR=0.83	GT:AD:DP:GQ:PL	0/1:33,28:61:99:789,0,898	18	0	1	0
chr4	40432716	40432716	C	T	exonic	RBM47	.	nonsynonymous SNV	RBM47:NM_019027:exon4:c.G1270A:p.A424T,RBM47:NM_001371113:exon5:c.G1477A:p.A493T,RBM47:NM_001371114:exon5:c.G1363A:p.A455T,RBM47:NM_001098634:exon6:c.G1477A:p.A493T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.213	0.0403908792523	.	.	2.526e-05	0.0001	0	0.0001	0	1.536e-05	0	0	1.94e-05	3	154602	rs748134090	1.166e-05	1.232e-05	9.556e-06	1.379e-05	1.351e-05	7.1e-06	5.81e-06	8.11e-06	6.43e-06	0	0	0	0	0	0	1.351e-05	1.662e-05	1.163e-05	3.286e-05	3.282e-05	2.571e-05	4.034e-05	0.0006	1.261e-05	7.98e-06	0.0002	8.404e-05	4.816e-05	0	0	0	0.0006	0	0	0	0	0	0.123	0.48186	T	0.31	0.25135	T	0.999	0.77913	D	0.985	0.78936	D	0.106626	0.19606	N	0.571278	0.99999	0.58761	D	1.32	0.33002	L	2.02	0.23082	T	-0.12	0.08809	N	0.482	0.57263	-1.0645	0.10666	T	0.074	0.29928	T	10	0.34846124	0.51760	T	0.040391	0.59348	D	0.213	0.50496	0.259	0.20159	0.082315109003	0.07666	0.7154601592543018	0.71489	0.844674069954	0.68227	0.532006144524	0.43317	T	0.079094	0.36047	T	-0.224262	0.17414	T	-0.377146	0.36056	T	0.29628776645464	0.24850	T	0.860614	0.55382	D	0.08241198	0.18984	0.09916821	0.23668	0.08241198	0.18984	0.09916821	0.23668	-8.328	0.63284	D	.	.	0.128	0.27702	B	.;.;.;.	.;.;.;.	2.792500	0.36715	20.3	0.9954274494061357	0.70586	0.98499	0.83426	D	AEFDBI	0.661377	0.63162	D	0.185922827236151	0.50524	3.241498	0.231537752755156	0.51606	3.341662	0.99999999997597	0.74766	0.787689	0.99735	0	0.71359	0.82159	0	0.0	0.00061	3	0.562822	0.20929	0	.	.	5.43	5.43	0.79006	4.013000	0.56850	5.381000	0.48456	0.531000	0.24825	0.998000	0.41325	0.989000	0.31174	0.026000	0.12556	0.0:1.0:0.0:0.0	18.847	0.92179	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	.	.	.	.	.	.	.	.	0.02632	1015.33	34	chr4	40432716	.	C	T	1015.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.05;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.31;ReadPosRankSum=-1.398;SOR=0.743	GT:AD:DP:GQ:PL	0/1:61,48:109:99:1029,0,1539	18	0	1	0
chr4	56963503	56963503	G	A	exonic	NOA1	.	nonsynonymous SNV	NOA1:NM_032313:exon7:c.C2044T:p.P682S	.	7	1495	17	3	0	23	0.00763359	.	.	.	3886798	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.163	.	0.0019	0.00379393	0.0031	0.0005	0.0025	0.0001	0.0005	0.0026	0	0.0099	0.0030918	478	154602	rs61747375	0.0037	0.0037	0.0035	0.0039	0.0093	0.0037	0.0036	0.0088	0.0086	0.0005	0.0031	0.0013	5.038e-05	0.0003	0.0023	0.0038	0.0034	0.0093	0.0024	0.0024	0.0026	0.0023	0.0085	0.0022	0.0021	0.0064	0.0057	0.0006	0.0252	0.0029	0.0009	0	0.0004	0.0034	0.0033	0.0024	0.0085	0.01	0.56456	D	0.02	0.58613	D	0.997	0.70673	D	0.861	0.61279	P	0.000132	0.49741	D	0.177605	1	0.81001	D	3.105	0.87672	M	1.1	0.39050	T	-2.96	0.61722	D	0.426	0.46555	-0.5400	0.67163	T	0.211	0.57134	T	10	0.0073290765	0.00167	T	.	.	.	0.163	0.42028	.	.	0.631970868704	0.62895	0.7423886184273022	0.74184	0.37369969626	0.38833	0.306570768356	0.11389	T	0.404834	0.76118	T	-0.408862	0.02022	T	-0.352116	0.38963	T	0.0540768489422514	0.06201	T	0.805919	0.45429	T	0.112257406	0.26521	0.17708229	0.40285	0.112257406	0.26520	0.17708229	0.40285	-5.863	0.45119	T	.	.	0.173	0.37858	B	.	.	4.088366	0.60867	24.3	0.99903686811470538	0.97502	0.97277	0.73745	D	AEFBI	0.464368	0.51289	N	0.639699020071097	0.75703	6.353225	0.56227660753155	0.72255	5.781155	0.999999997713301	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.41	5.41	0.78313	5.607000	0.67330	8.454000	0.77227	0.664000	0.56970	1.000000	0.71638	1.000000	0.68203	0.766000	0.36367	0.0:0.0:1.0:0.0	19.159	0.93507	853	0.34956	.	.	.	.	.	.	Likely benign	0	0	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	0.003021	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.011364	0.02632	842.33	33	chr4	56963503	.	G	A	842.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.385;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.91;ReadPosRankSum=-0.432;SOR=0.606	GT:AD:DP:GQ:PL	0/1:46,39:85:99:856,0,1105	18	0	1	0
chr4	70705091	70705091	C	A	exonic	RUFY3	.	nonsynonymous SNV	RUFY3:NM_001130709:exon1:c.C155A:p.A52D	.	429	1084	9	0	0	9	0.00413413	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	.	.	.	0.0052	0	0	0	.	0.04	0	0	0.00011	17	154602	rs770623744	0.0013	0.0012	0.0014	0.0013	0.0045	0.0013	0.0013	0.0028	0.0022	0.0001	0.0003	0.0043	0	0.0005	0.0045	0.0014	0.0014	0.0007	0.0008	0.0008	0.0009	0.0007	0.0013	0.0007	0.0007	0.0011	0.0010	0.0002	0	0.0003	0.0029	0	0.0004	0	0.0013	0.0014	0.0006	0.06	0.37326	T	0.197	0.56640	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	2.47	0.14783	T	-5.25	0.84035	D	0.1	0.08227	-0.9631	0.38586	T	0.021	0.08824	T	8	0.005218327	0.00114	T	.	.	.	0.020	0.03691	.	.	0.0675242888579	0.06100	.	.	.	.	.	.	.	0.06855	0.33487	T	-0.545158	0.00312	T	-0.580485	0.14501	T	0.159272780133707	0.17818	T	0.492351	0.15167	T	.	.	.	.	.	.	.	.	-5.209	0.39033	T	.	.	0.144	0.31658	B	.;.	.;.	2.093206	0.26629	17.18	0.98873818688796178	0.47702	0.00400	0.02002	N	AEFDBHCIJ	0.040379	0.05997	N	-0.770890031319576	0.14072	0.6980951	-0.768609918459942	0.15266	0.8020189	0.999998198596944	0.74766	0.266657	0.04791	1	0.484254	0.07192	0	0.519653	0.09787	0	0.492483	0.08430	1	.	.	2.86	-0.336	0.12030	-1.091000	0.03480	1.303000	0.25487	0.442000	0.21104	0.000000	0.06391	0.063000	0.22074	0.317000	0.24900	0.2172:0.3553:0.4275:0.0	5.308	0.15124	850	0.35610	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007246	0.007353	0.000000	0.013699	0.000000	0.000000	0.026316	0.000000	0.02632	345.33	35	chr4	70705091	.	C	A	345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.491;DP=534;ExcessHet=0;FS=1.289;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.062;SOR=0.684	GT:AD:DP:GQ:PL	0/1:22,15:37:99:359,0,533	18	0	1	0
chr4	73412006	73412006	C	T	exonic	ALB	.	nonsynonymous SNV	ALB:NM_000477:exon7:c.C724T:p.R242C	Analbuminemia	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.120	0.0510634799615	.	.	2.473e-05	0	8.675e-05	0	0	1.499e-05	0	6.056e-05	1.94e-05	3	154602	rs754953092	2.873e-05	2.873e-05	2.042e-05	3.713e-05	0.0005	2.151e-05	1.908e-05	0.0001	7.838e-05	0	6.708e-05	0	0	0	0.0005	1.709e-05	4.968e-05	0.0002	1.315e-05	1.313e-05	1.285e-05	1.346e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.47e-05	0	0.0002	0.001	0.91255	D	0.003	0.79402	D	1.0	0.90584	D	0.981	0.86255	D	0.951509	0.08284	N	0.979822	0.999989	0.18198	N	2.915	0.84231	M	-0.88	0.74689	T	-4.42	0.79659	D	0.466	0.56748	-0.9390	0.42774	T	0.153	0.48291	T	10	0.6966975	0.72188	D	0.051063	0.64505	D	0.543	0.80960	0.744	0.87570	0.89305311408	0.89199	0.6057388224713427	0.60504	0.920899058271	0.71449	0.285074472427	0.08209	T	0.432448	0.78021	T	-0.110649	0.34662	T	-0.160048	0.58349	T	0.721924600769641	0.41796	D	0.950605	0.81304	D	0.47771606	0.65761	0.39684358	0.64315	0.47771606	0.65762	0.39684358	0.64315	-10.735	0.78185	D	0.8360328783640325	0.90570	0.486	0.70803	A	.;.;.;.;.	.;.;.;.;.	3.957315	0.58015	23.9	0.99871158872341326	0.94902	0.17158	0.19715	N	AEFBHCI	0.779026	0.71135	D	-0.264167414730531	0.30543	1.703957	-0.382332727050436	0.25524	1.404163	0.999992854498552	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	6.02	1.34	0.21018	-0.238000	0.08995	0.062000	0.14145	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.924000	0.46004	0.4984:0.297:0.0:0.2046	4.512	0.11325	814	0.42100	Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal;Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, N-terminal|Serum albumin, 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	.	.	.	.	.	.	.	.	0.02632	1867.33	33	chr4	73412006	.	C	T	1867.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.079;DP=772;ExcessHet=0;FS=2.157;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.62;ReadPosRankSum=-0.355;SOR=0.501	GT:AD:DP:GQ:PL	0/1:71,77:148:99:1881,0,1779	18	0	1	0
chr4	86693648	86693648	G	A	exonic	PTPN13	.	nonsynonymous SNV	PTPN13:NM_006264:exon6:c.G608A:p.R203Q,PTPN13:NM_080683:exon6:c.G608A:p.R203Q,PTPN13:NM_080684:exon6:c.G608A:p.R203Q,PTPN13:NM_080685:exon6:c.G608A:p.R203Q	.	0	1521	1	0	0	1	0.000328623	.	.	.	2683608	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.354	0.120391421668	.	.	7.954e-05	0	0	0	0	8.873e-05	0	0.0001	5.17e-05	8	154602	rs567152948	7.703e-05	8.756e-05	6.904e-05	8.522e-05	0.0002	6.514e-05	6.054e-05	9.667e-05	7.654e-05	0	2.714e-05	0	0	0	0.0002	8.161e-05	8.627e-05	0.0002	5.26e-05	5.254e-05	5.142e-05	5.384e-05	0.0002	2.559e-05	1.831e-05	2.847e-05	1.858e-05	0	0	0.0001	0	0	0	0	7.351e-05	0	0.0002	0.003	0.72154	D	0.007	0.70582	D	1.0	0.90584	D	1.0	0.97372	D	0.002000	0.37503	N	0.000000	0.999993	0.58761	D	2.885	0.83555	M	1.35	0.34648	T	-2.9	0.60827	D	0.609	0.66700	-0.6331	0.63439	T	0.243	0.61166	T	10	0.5519866	0.64307	D	0.120391	0.80092	D	0.354	0.67510	0.438	0.49157	0.527908583987	0.52438	0.5641292700225263	0.56339	0.272485104061	0.29758	0.58894944191	0.51346	T	0.62221	0.88174	D	0.00210623	0.51945	T	-0.234751	0.51309	T	0.853504657745361	0.50471	D	0.988801	0.96179	D	0.31853807	0.54515	0.32706577	0.58608	0.31853807	0.54515	0.32706577	0.58607	-4.237	0.28079	T	.	.	0.577	0.67932	P	.;.;.;.;.	.;.;.;.;.	4.983147	0.82561	27.8	0.99960478404196518	0.99997	0.98782	0.86783	D	AEFBI	0.874557	0.79750	D	0.857141594639473	0.89510	10.00189	0.839668652592876	0.92398	11.40369	0.999998005779922	0.74766	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.567892	0.33627	0	.	.	5.55	5.55	0.83298	8.222000	0.89729	11.861000	0.98322	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	19.507	0.95116	778	0.48011	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1956.83	34	chr4	86693648	.	G	A	1956.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.89;DP=775;ExcessHet=0.119;FS=3.468;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=-0.508;SOR=0.469	GT:AD:DP:GQ:PL	0/1:44,47:91:99:1113,0,964	17	0	2	0
chr4	87114434	87114434	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon9:c.C494T:p.A165V,AFF1:NM_001313959:exon11:c.C1580T:p.A527V,AFF1:NM_005935:exon11:c.C1580T:p.A527V,AFF1:NM_001166693:exon12:c.C1601T:p.A534V	.	11	1499	11	1	0	13	0.0043175	.	.	.	734754	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.027	0.0200897194494	0.0006	0.00219649	0.0013	0.0030	0.0004	0.0003	0	0.0009	0	0.0034	0.001009	156	154602	rs201993229	0.0007	0.0007	0.0007	0.0008	0.0031	0.0007	0.0007	0.0028	0.0027	0.0018	0.0002	0.0032	0.0002	0	0.0016	0.0005	0.0008	0.0031	0.0011	0.0011	0.0011	0.0010	0.0023	0.0009	0.0009	0.0017	0.0015	0.0020	0	0.0003	0.0043	0.0002	0	0	0.0007	0.0005	0.0023	1.0	0.24372	T	1.0	0.01155	T	0.0	0.02946	B	0.001	0.04355	B	0.978139	0.07822	N	1.010520	1	0.08975	N	-0.59	0.02258	N	0.03	0.64086	T	0.03	0.42575	N	0.067	0.10483	-1.0012	0.29574	T	0.069	0.28147	T	10	0.0035907328	0.00065	T	0.02009	0.42610	T	0.027	0.05988	.	.	0.243398259712	0.23965	0.06372221201482546	0.06311	0.049690005848	0.05445	0.319151550531	0.13293	T	0.078648	0.35941	T	-0.606319	0.00133	T	-0.645502	0.09272	T	0.002194123681064	0.00023	T	0.40306	0.11673	T	0.017148348	0.00250	0.03160284	0.01773	0.017148348	0.00249	0.03160284	0.01772	-4.74	0.34369	T	.	.	0.059	0.00847	B	.;.;.	.;.;.	-1.090542	0.00652	0.018	0.52902382881995713	0.04836	0.06513	0.12523	N	AEFDBHCI	0.030058	0.02955	N	-1.82267421312906	0.00492	0.02117562	-1.84736744974942	0.00619	0.0275136	0.99999977705542	0.74766	0.624846	0.39970	0	0.653731	0.59785	0	0.650271	0.49498	0	0.635551	0.53088	0	.	.	5.89	-8.4	0.00843	-0.417000	0.07153	-4.616000	0.02068	-1.823000	0.00598	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0922:0.3703:0.0:0.5375	8.726	0.33630	761	0.50382	.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1034.33	33	chr4	87114434	.	C	T	1034.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.048;DP=708;ExcessHet=0;FS=0.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.99;ReadPosRankSum=-0.712;SOR=0.719	GT:AD:DP:GQ:PL	0/1:25,44:69:99:1048,0,499	18	0	1	0
chr4	87131833	87131833	C	T	exonic	AFF1	.	nonsynonymous SNV	AFF1:NM_001313960:exon15:c.C2035T:p.P679S,AFF1:NM_001313959:exon17:c.C3121T:p.P1041S,AFF1:NM_005935:exon17:c.C3121T:p.P1041S,AFF1:NM_001166693:exon18:c.C3142T:p.P1048S	.	17	1500	4	1	0	6	0.00199601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.0193035631981	7.7e-05	0.000798722	0.0009	9.97e-05	0.0003	0	0	0.0006	0	0.0039	0.0006986	108	154602	rs144598701	0.0005	0.0005	0.0004	0.0006	0.0030	0.0005	0.0004	0.0026	0.0025	9.421e-05	0.0002	0.0032	0	0	0.0016	0.0003	0.0006	0.0030	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	2.407e-05	0	0.0002	0.0043	0	0	0	0.0003	0	0.0021	0.352	0.12226	T	0.699	0.05825	T	0.006	0.13644	B	0.018	0.18489	B	0.192508	0.16809	N	0.595565	0.820572	0.34770	D	0.835	0.21042	L	0.05	0.61923	T	-1.11	0.28906	N	0.092	0.09631	-0.9952	0.31245	T	0.119	0.41735	T	10	0.005586982	0.00124	T	0.019304	0.41626	T	0.031	0.07369	.	.	0.41921206133	0.41539	0.09670454187720627	0.09602	0.0501717393775	0.05505	0.377047836781	0.21837	T	0.103695	0.41259	T	-0.52469	0.00413	T	-0.528247	0.19463	T	0.0058071732486809	0.00063	T	0.759024	0.38317	T	0.01781661	0.00305	0.027865482	0.00973	0.01781661	0.00305	0.027865482	0.00973	-4.943	0.36325	T	.	.	0.076	0.05890	B	.;.;.	.;.;.	0.477986	0.08477	5.234	0.67065876134187585	0.08243	0.42523	0.26896	N	AEFDBI	0.033835	0.04085	N	-0.864244922444833	0.11701	0.5661341	-0.763781323556238	0.15385	0.8088325	0.817548039090179	0.24465	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.711	0.71501	0	.	.	4.68	2.8	0.31881	0.382000	0.20364	0.246000	0.16368	-0.313000	0.06017	0.099000	0.22773	0.025000	0.21018	0.131000	0.19607	0.1496:0.6006:0.0:0.2498	5.597	0.16613	760	0.50470	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001009	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	956.33	33	chr4	87131833	.	C	T	956.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.483;DP=715;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=0.847;SOR=0.648	GT:AD:DP:GQ:PL	0/1:41,42:83:99:970,0,910	18	0	1	0
chr4	87391031	87391031	G	C	exonic	HSD17B11	.	nonsynonymous SNV	HSD17B11:NM_016245:exon1:c.C40G:p.L14V	.	.	.	.	.	.	.	.	.	.	.	3972072	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.284	0.0575445918238	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.592	0.05772	T	0.541	0.11004	T	.	.	.	.	.	.	0.001551	0.38671	N	0.118405	1	0.08975	N	.	.	.	-1.97	0.85173	D	-0.23	0.10656	N	0.302	0.45426	-0.6303	0.63558	T	0.347	0.71194	T	10	0.14816457	0.28063	T	0.057545	0.67003	D	0.284	0.60219	0.46	0.52753	0.629359936291	0.62633	0.32608351256564205	0.32521	0.988129650574	0.73979	0.299627125263	0.10345	T	.	.	.	-0.0208096	0.48738	T	-0.267668	0.48054	T	0.285143670621333	0.24387	T	0.489851	0.15048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.26451	B	.;.	.;.	1.933040	0.24553	16.44	0.59807352564377148	0.06311	0.82609	0.41813	D	AEFDGBCIJ	0.270598	0.38663	N	-0.281281118777013	0.29871	1.660422	-0.242358349179818	0.30036	1.68772	0.999999999896917	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.98	5.98	0.97147	1.032000	0.29786	2.944000	0.35680	0.676000	0.76740	0.022000	0.19841	0.999000	0.35428	0.184000	0.21420	0.0:0.1355:0.7243:0.1403	11.381	0.49000	600	0.68026	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	685.33	34	chr4	87391031	.	G	C	685.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.676;DP=691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.38;ReadPosRankSum=-0.271;SOR=0.711	GT:AD:DP:GQ:PL	0/1:37,29:66:99:699,0,997	18	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	5164.61	38	chr4	87615730	.	ATAG	*	5164.61	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.227;DP=777;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.46;MQRankSum=-3.184;QD=9.56;ReadPosRankSum=1.92;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,16:31:99:0|1:87615730_ATAG_A:1735,635,564:87615730	5	3	10	1
chr4	87615731	87615731	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	147	40	1	11	27	50	0.223301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.7632	118.42	38	chr4	87615731	.	T	*	118.42	.	AC=29;AF=0.763;AN=38;DP=779;ExcessHet=4.0268;FS=1.141;InbreedingCoeff=-0.2667;MLEAC=29;MLEAF=0.763;MQ=58.33;QD=0.23;SOR=0.84	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,16:31:71:1|1:87615730_ATAG_A:1171,71,0:87615730	1	11	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4444	4778.36	38	chr4	87615734	.	CAGTGACAGCAGCAACAGCAGTGACAGCAGCGAT	*	4778.36	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.944;DP=851;ExcessHet=1.1637;FS=2.579;InbreedingCoeff=-0.1366;MLEAC=16;MLEAF=0.444;MQ=58.45;MQRankSum=-3.184;QD=9.26;ReadPosRankSum=2.06;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,16:31:99:0|1:87615730_ATAG_A:1716,618,588:87615730	5	3	10	1
chr4	87615740	87615740	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	108.23	38	chr4	87615740	.	C	*	108.23	.	AC=19;AF=0.5;AN=38;DP=820;ExcessHet=0.0541;FS=13.908;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=58.19;QD=0.43;SOR=1.303	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,16:31:30:1|1:87615730_ATAG_A:1128,30,0:87615730	7	7	5	0
chr4	87615746	87615746	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	138.23	38	chr4	87615746	.	C	*	138.23	.	AC=19;AF=0.5;AN=38;DP=817;ExcessHet=0.0541;FS=12.871;InbreedingCoeff=0.406;MLEAC=19;MLEAF=0.5;MQ=57.5;QD=0.56;SOR=1.278	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,16:31:30:1|1:87615730_ATAG_A:1128,30,0:87615730	7	7	5	0
chr4	87615749	87615767	CAGCAGTGACAGCAGCGAT	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	1015	436	27	4	40	75	0.0385888	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	1003.04	32	chr4	87615749	.	CAGCAGTGACAGCAGCGAT	*	1003.04	.	AC=13;AF=0.5;AN=26;BaseQRankSum=2.3;DP=810;ExcessHet=2.7716;FS=0.432;InbreedingCoeff=-0.3684;MLEAC=16;MLEAF=0.615;MQ=58.37;MQRankSum=-2.137;QD=3.37;ReadPosRankSum=0.68;SOR=0.74	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:22,15:37:99:.:.:588,0,874:.	2	2	9	6
chr4	99318097	99318097	C	G	exonic	ADH1B	.	nonsynonymous SNV	ADH1B:NM_000668:exon3:c.G208C:p.A70P,ADH1B:NM_001286650:exon4:c.G88C:p.A30P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	4800.47	119	chr4	99318097	.	C	G	4800.47	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-2.037;DP=2929;ExcessHet=25.4433;FS=292.214;InbreedingCoeff=-0.7674;MLEAC=17;MLEAF=0.472;MQ=59.96;MQRankSum=0;QD=2.15;ReadPosRankSum=0.505;SOR=13.638	GT:AD:DP:GQ:PL	0/1:102,55:157:99:382,0,1663	2	0	16	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4767.86	165	chr4	99347057	.	C	G	4767.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.37;DP=2499;ExcessHet=31.086;FS=313.504;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=59.98;MQRankSum=0;QD=2.44;ReadPosRankSum=-0.377;SOR=11.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,27:102:99:0|1:99347057_C_G:201,0,1963:99347057	2	0	17	0
chr4	99347058	99347058	C	G	exonic	ADH1C	.	nonsynonymous SNV	ADH1C:NM_000669:exon3:c.G207C:p.E69D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.83351	D	0.994	0.66517	D	0.929	0.66367	D	.	.	.	.	.	.	.	1.565	0.39561	L	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	0.5626589	0.64875	D	.	.	.	.	.	.	.	0.427139414373	0.42328	0.8914061528926898	0.89110	.	.	0.513031244278	0.40645	T	0.026211	0.58974	T	0.22255	0.76017	D	0.0819005	0.75705	D	.	.	.	0.975102	0.94195	D	0.6913734	0.77585	0.5877092	0.76085	0.6913734	0.77587	0.5877092	0.76086	-12.015	0.84925	D	.	.	0.959	0.87947	P	.;.;.	.;.;.	2.789522	0.36664	20.3	0.99424627263076804	0.63935	0.54002	0.29509	D	AEFI	0.672285	0.63874	D	.	.	.	.	.	.	1.82240512729962E-6	0.01202	0.053691	0.00478	0	0.063388	0.01293	0	0.060301	0.00762	0	0.057018	0.00518	0	.	.	3.71	0.955	0.18725	0.069000	0.14419	-0.861000	0.07140	0.549000	0.26987	0.372000	0.25940	0.002000	0.18203	0.136000	0.19798	0.0:0.4777:0.0:0.5223	7.455	0.26434	625	0.65529	Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site|Polyketide synthase, enoylreductase domain;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site;Alcohol dehydrogenase, N-terminal|Alcohol dehydrogenase, zinc-type, conserved site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	315.14	51	chr4	99347058	.	C	G	315.14	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.636;DP=1370;ExcessHet=0.3672;FS=259.16;InbreedingCoeff=-0.118;MLEAC=3;MLEAF=0.088;MQ=59.9;MQRankSum=0.561;QD=1.08;ReadPosRankSum=0.432;SOR=8.581	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,27:102:99:0|1:99347057_C_G:201,0,1963:99347057	14	0	3	2
chr4	106925843	106925843	C	T	exonic	DKK2	.	nonsynonymous SNV	DKK2:NM_014421:exon2:c.G329A:p.C110Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.176637981399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.654e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.0	0.92824	D	0.997	0.70673	D	0.995	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.955	0.85029	M	-1.1	0.77336	T	-9.32	0.98533	D	0.932	0.94314	0.412	0.89282	D	0.664	0.88336	D	10	0.98750603	0.99120	D	0.176638	0.85234	D	0.827	0.94503	0.93	0.98900	0.885162981381	0.88403	0.9789097433456503	0.97881	1.10494106084	0.77866	0.885924994946	0.94743	D	0.85182	0.96635	D	0.396691	0.89724	D	0.332043	0.89595	D	0.999862909317017	0.99418	D	0.89791	0.64303	D	0.95217484	0.96487	0.9381204	0.97644	0.95217484	0.96487	0.9381204	0.97644	-13.914	0.92774	D	.	.	0.997	0.96936	P	.;.;.	.;.;.	5.043277	0.83952	28.2	0.99769904833187384	0.85834	0.98670	0.85379	D	AEFBI	0.952747	0.96846	D	0.846721317432968	0.88920	9.763857	0.817088242842445	0.90956	10.64858	0.999999544324329	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	7.526000	0.80815	7.598000	0.61467	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	19.578	0.95446	856	0.34373	Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich;Dickkopf, N-terminal cysteine-rich	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3529	1714.38	33	chr4	106925843	.	C	T	1714.38	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-3.035;DP=2024;ExcessHet=11.1788;FS=191.101;InbreedingCoeff=-0.5178;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=1.39;SOR=10.85	GT:AD:DP:GQ:PL	0/1:111,56:167:99:458,0,1888	5	0	12	2
chr4	113365126	113365126	G	T	exonic	ANK2	.	nonsynonymous SNV	ANK2:NM_001354278:exon19:c.G2249T:p.R750L,ANK2:NM_001354280:exon19:c.G2270T:p.R757L,ANK2:NM_001354281:exon19:c.G2249T:p.R750L,ANK2:NM_001354279:exon20:c.G2285T:p.R762L,ANK2:NM_001354282:exon20:c.G2285T:p.R762L,ANK2:NM_001354277:exon37:c.G4337T:p.R1446L,ANK2:NM_001354260:exon38:c.G4436T:p.R1479L,ANK2:NM_001354268:exon38:c.G4523T:p.R1508L,ANK2:NM_001354271:exon38:c.G4436T:p.R1479L,ANK2:NM_001354273:exon38:c.G4421T:p.R1474L,ANK2:NM_001354274:exon38:c.G4487T:p.R1496L,ANK2:NM_001354228:exon39:c.G4622T:p.R1541L,ANK2:NM_001354245:exon39:c.G4559T:p.R1520L,ANK2:NM_001354249:exon39:c.G4535T:p.R1512L,ANK2:NM_001354257:exon39:c.G4460T:p.R1487L,ANK2:NM_001354258:exon39:c.G4622T:p.R1541L,ANK2:NM_001354264:exon39:c.G4556T:p.R1519L,ANK2:NM_001354266:exon39:c.G4535T:p.R1512L,ANK2:NM_001354267:exon39:c.G4535T:p.R1512L,ANK2:NM_001354269:exon39:c.G4508T:p.R1503L,ANK2:NM_001354276:exon39:c.G4535T:p.R1512L,ANK2:NM_001354236:exon40:c.G4619T:p.R1540L,ANK2:NM_001354240:exon40:c.G4766T:p.R1589L,ANK2:NM_001354253:exon40:c.G4496T:p.R1499L,ANK2:NM_001354261:exon40:c.G4580T:p.R1527L,ANK2:NM_001354262:exon40:c.G4559T:p.R1520L,ANK2:NM_001354270:exon40:c.G4496T:p.R1499L,ANK2:NM_001354275:exon40:c.G4559T:p.R1520L,ANK2:NM_020977:exon40:c.G4721T:p.R1574L,ANK2:NM_001148:exon41:c.G10976T:p.R3659L,ANK2:NM_001354225:exon41:c.G4733T:p.R1578L,ANK2:NM_001354230:exon41:c.G4700T:p.R1567L,ANK2:NM_001354231:exon41:c.G4763T:p.R1588L,ANK2:NM_001354232:exon41:c.G4757T:p.R1586L,ANK2:NM_001354235:exon41:c.G4718T:p.R1573L,ANK2:NM_001354241:exon41:c.G4766T:p.R1589L,ANK2:NM_001354242:exon41:c.G4763T:p.R1588L,ANK2:NM_001354243:exon41:c.G4658T:p.R1553L,ANK2:NM_001354246:exon41:c.G4718T:p.R1573L,ANK2:NM_001354255:exon41:c.G4658T:p.R1553L,ANK2:NM_001354265:exon41:c.G4718T:p.R1573L,ANK2:NM_001127493:exon42:c.G4694T:p.R1565L,ANK2:NM_001354237:exon42:c.G4799T:p.R1600L,ANK2:NM_001354244:exon42:c.G4655T:p.R1552L,ANK2:NM_001354254:exon42:c.G4670T:p.R1557L,ANK2:NM_001354256:exon42:c.G4655T:p.R1552L,ANK2:NM_001354272:exon42:c.G4592T:p.R1531L,ANK2:NM_001354239:exon43:c.G4691T:p.R1564L,ANK2:NM_001354252:exon43:c.G4691T:p.R1564L	Cardiac arrhythmia, ankyrin-B-related, Autosomal dominant;Long QT syndrome 4, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	367810	not_specified|Long_QT_syndrome|Cardiovascular_phenotype|Cardiac_arrhythmia,_ankyrin-B-related|not_provided|ANK2-related_disorder	MedGen:CN169374|MONDO:MONDO:0002442,MeSH:D008133,MedGen:C0023976|MedGen:CN230736|MONDO:MONDO:0010958,MedGen:C1970119,OMIM:600919,Orphanet:101016,Orphanet:768|MedGen:C3661900|.	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.257	0.401575544266	.	0.000399361	0.0002	0	0	0	0	8.999e-05	0	0.0010	0.0001682	26	154602	rs556640912	9.988e-05	9.987e-05	6.262e-05	0.0001	0.0008	8.646e-05	8.134e-05	0.0006	0.0006	0	2.236e-05	0	0	0	0.0007	5.126e-05	0.0002	0.0008	5.259e-05	5.252e-05	5.145e-05	5.378e-05	0.0006	2.558e-05	1.831e-05	0.0002	9.025e-05	2.41e-05	0	0	0	0	0	0.0034	4.413e-05	0	0.0006	0.067	0.45756	T	0.32	0.41573	T	0.029	0.33532	B	0.068	0.31087	B	0.011438	0.29535	N	0.238980	0.999998	0.19238	N	2.215	0.62545	M	-3.05	0.92407	D	0.99	0.65512	N	0.221	0.73285	-0.4037	0.71911	T	0.579	0.84849	D	10	0.04315573	0.03135	T	0.401576	0.93409	D	0.257	0.56827	0.371	0.38176	0.837322791105	0.83577	0.3072072113509239	0.30633	0.101454333348	0.11481	0.285079956055	0.08211	T	0.417125	0.76987	T	-0.176717	0.24226	T	-0.0872165	0.64372	T	0.0536300245162474	0.06127	T	0.890411	0.62583	D	0.083070025	0.19166	0.08085652	0.18325	0.09092116	0.21290	0.08189752	0.18649	-2.674	0.24460	T	0.4928774191658802	0.56943	0.229	0.46109	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.890472	0.38275	20.7	0.99130752144940593	0.53249	0.77416	0.38061	D	AEFBI	0.390653	0.46940	N	-0.216510003835822	0.32457	1.830594	-0.0940333591062437	0.35635	2.064092	0.418669609232242	0.20273	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.3	3.54	0.39650	2.674000	0.46532	1.378000	0.26011	0.676000	0.76740	0.994000	0.38300	0.832000	0.27222	0.984000	0.60418	0.2047:0.0:0.6375:0.1577	5.425	0.15720	626	0.65439	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1228.33	33	chr4	113365126	.	G	T	1228.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=766;ExcessHet=0;FS=2.451;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.97;ReadPosRankSum=0.241;SOR=0.968	GT:AD:DP:GQ:PL	0/1:63,49:112:99:1242,0,1513	18	0	1	0
chr4	117084992	117084992	A	C	exonic	TRAM1L1	.	nonsynonymous SNV	TRAM1L1:NM_152402:exon1:c.T402G:p.I134M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.385	0.0865422546552	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.028	0.54934	D	0.843	0.46605	P	0.873	0.61978	P	0.078778	0.21024	N	0.526393	0.983664	0.24866	N	2.39	0.68882	M	-2.06	0.85875	D	-1.34	0.33401	N	0.312	0.35194	-0.2078	0.77471	T	0.552	0.83593	D	10	0.30985647	0.48469	T	0.086542	0.74757	D	0.385	0.70194	0.377	0.39156	0.541194085853	0.53772	0.1707560074829598	0.16995	0.599866105322	0.55088	0.345022648573	0.17186	T	0.417555	0.77017	T	-0.0399243	0.45961	T	-0.295125	0.45236	T	0.362650573253632	0.27513	T	0.787321	0.42620	T	0.13944669	0.32211	0.121666946	0.29353	0.13944669	0.32211	0.121666946	0.29353	-7.166	0.55237	T	.	.	0.084	0.09772	B	.	.	1.598618	0.20438	14.75	0.9568524711822417	0.27552	0.05261	0.11099	N	AEFDBCI	0.058693	0.11030	N	-0.964344624043748	0.09373	0.4433518	-1.25069369129323	0.05121	0.2432473	0.99999661129349	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.507148	0.09336	0	0.650387	0.60102	1	.	.	4.29	-6.19	0.01900	-0.495000	0.06524	-2.494000	0.03685	-0.651000	0.04387	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4983:0.35:0.1517:0.0	7.006	0.24014	958	0.09170	TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology domain|TRAM/LAG1/CLN8 homology 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	.	.	.	.	.	.	.	.	0.02632	2191.33	33	chr4	117084992	.	A	C	2191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.051;DP=800;ExcessHet=0;FS=2.665;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.81;ReadPosRankSum=-0.077;SOR=0.879	GT:AD:DP:GQ:PL	0/1:87,84:171:99:2205,0,2274	18	0	1	0
chr4	119271709	119271709	C	T	exonic	USP53	.	nonsynonymous SNV	USP53:NM_001371396:exon13:c.C1696T:p.P566S,USP53:NM_001371397:exon14:c.C1849T:p.P617S,USP53:NM_001371399:exon14:c.C1849T:p.P617S,USP53:NM_001371398:exon15:c.C1849T:p.P617S,USP53:NM_019050:exon15:c.C1849T:p.P617S,USP53:NM_001371395:exon16:c.C1849T:p.P617S	.	436	1068	18	0	0	18	0.00835655	.	.	.	720732	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.032	.	0.0035	0.00159744	0.0040	0.0008	0.0067	0	0.0006	0.0050	0.0123	0.0029	0.0038421	594	154602	rs147140509	0.0045	0.0045	0.0045	0.0045	0.0113	0.0044	0.0044	0.0091	0.0083	0.0010	0.0038	0.0056	0	0.0014	0.0113	0.0049	0.0050	0.0034	0.0029	0.0029	0.0032	0.0026	0.0044	0.0027	0.0026	0.0040	0.0039	0.0009	0	0.0022	0.0058	0	0.0013	0.0411	0.0044	0.0038	0.0031	0.41	0.10148	T	0.959	0.02555	T	0.003	0.11197	B	0.003	0.08700	B	0.395286	0.13199	N	0.719952	1	0.08975	N	1.12	0.28775	L	2.46	0.14907	T	-1.24	0.31375	N	0.055	0.02658	-0.9613	0.38936	T	0.016	0.06425	T	10	0.0031200051	0.00052	T	.	.	.	0.032	0.07718	.	.	0.307332253619	0.30352	0.07958141728897741	0.07893	0.138693011679	0.15641	0.240512296557	0.02837	T	0.00409	0.03502	T	-0.68941	0.00042	T	-0.761975	0.03042	T	0.000688057911694963	0.00006	T	0.584642	0.21276	T	0.01913809	0.00439	0.023445774	0.00358	0.01913809	0.00439	0.023445774	0.00357	-2.689	0.07211	T	.	.	0.077	0.06433	B	.;.	.;.	-0.276737	0.02721	0.359	0.57365281913069399	0.05753	0.10011	0.15632	N	AEFBI	0.078094	0.15749	N	-1.25241476748835	0.04267	0.1922847	-1.2491995289293	0.05143	0.2443526	0.944076082587791	0.27599	0.730579	0.87903	0	0.588015	0.36545	0	0.65145	0.50148	0	0.648885	0.59868	0	.	.	5.58	-1.71	0.07696	0.011000	0.13162	0.378000	0.17749	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.551000	0.30197	0.108:0.4076:0.2139:0.2705	2.575	0.04513	546	0.72524	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009063	0.005051	0.006793	0.014620	0.000000	0.025862	0.012195	0.007576	0.07895	6429.79	33	chr4	119271709	.	C	T	6429.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.803;DP=1112;ExcessHet=0.3672;FS=0.517;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-0.183;SOR=0.649	GT:AD:DP:GQ:PL	0/1:78,73:151:99:1871,0,1852	16	0	3	0
chr4	121670000	121670000	C	T	exonic	ANXA5	.	nonsynonymous SNV	ANXA5:NM_001154:exon11:c.G734A:p.R245Q	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.00814331002882	0.0012	0.000199681	0.0010	0	0.0009	0	0	0.0015	0.0033	0.0003	0.0008603	133	154602	rs145513784	0.0006	0.0007	0.0006	0.0007	0.0026	0.0006	0.0006	0.0016	0.0013	9.164e-05	0.0006	0.0145	2.533e-05	5.623e-05	0.0026	0.0004	0.0013	0.0005	0.0007	0.0007	0.0008	0.0006	0.0012	0.0006	0.0006	0.0008	0.0006	7.227e-05	0	0.0012	0.0130	0	9.457e-05	0.0034	0.0005	0.0009	0.0002	0.076	0.38407	T	0.36	0.29249	T	0.999	0.77913	D	0.711	0.54536	P	0.000025	0.55875	D	0.113115	0.999994	0.58761	D	1.955	0.52871	M	2.76	0.11515	T	-2.93	0.64593	D	0.529	0.55799	-1.1791	0.00383	T	0.052	0.22114	T	10	0.0099906325	0.00224	T	0.008143	0.21572	T	0.239	0.54358	.	.	0.64992776045	0.64702	0.7287318009238326	0.72817	0.600742330255	0.55147	0.472031742334	0.34959	T	0.363	0.72864	T	-0.127122	0.31964	T	-0.0504644	0.66991	D	0.177510887384415	0.19077	T	0.956004	0.83260	D	0.493785	0.66728	0.28685826	0.54695	0.493785	0.66729	0.28685826	0.54695	-6.312	0.48817	T	.	.	0.273	0.54250	B	.;.;.	.;.;.	5.566614	0.92182	32	0.99848833101050494	0.92838	0.97867	0.77726	D	AEFBI	0.735570	0.68134	D	0.499319450162693	0.67051	5.030303	0.564963731177956	0.72447	5.810905	0.999999999997475	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	4.614000	0.60886	7.568000	0.60641	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.198	0.89762	802	0.44336	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002518	0.000000	0.002717	0.005848	0.000000	0.000000	0.003049	0.000000	0.02632	432.33	38	chr4	121670000	.	C	T	432.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.736;DP=678;ExcessHet=0;FS=4.201;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.2;ReadPosRankSum=1.43;SOR=0.86	GT:AD:DP:GQ:PL	0/1:28,19:47:99:446,0,672	18	0	1	0
chr4	122316514	122316514	A	G	exonic	KIAA1109	.	nonsynonymous SNV	KIAA1109:NM_001384125:exon62:c.A10706G:p.H3569R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.669e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.338	0.12796	T	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	1.59	0.28836	T	0.3	0.04091	N	.	.	-0.8618	0.51133	T	0.160	0.49463	T	6	0.2771085	0.45276	T	.	.	.	0.156	0.40720	0.231	0.15855	0.545173277474	0.54172	.	.	.	.	.	.	.	0.002105	0.01509	T	-0.076939	0.40210	T	-0.348294	0.39400	T	0.617290539001975	0.37095	D	0.390061	0.09662	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	0.16973	B	.;.	.;.	2.262371	0.28910	17.95	0.97995682254424743	0.37438	0.99262	0.93620	D	AEFBI	0.798408	0.72496	D	0.411702957054516	0.62064	4.416458	0.486254321042019	0.67079	5.036178	0.99996692957306	0.48965	0.615465	0.37627	0	0.446627	0.06534	0	0.658983	0.55881	0	0.528226	0.09195	0	.	.	5.27	5.27	0.73797	7.417000	0.79365	6.100000	0.53542	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	1.0:0.0:0.0:0.0	15.480	0.75253	877	0.30165	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1286.33	44	chr4	122316514	.	A	G	1286.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.01;DP=718;ExcessHet=0;FS=0.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-1.008;SOR=0.61	GT:AD:DP:GQ:PL	0/1:38,55:93:99:1300,0,817	18	0	1	0
chr4	127704250	127704250	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1526C:p.R509T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.586	0.028113303493	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.057e-06	2.052e-06	0	4.136e-06	2.702e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.702e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.74	0.80084	M	1.53	0.30401	T	-4.06	0.74582	D	0.921	0.92433	-0.7100	0.59952	T	0.210	0.56933	T	10	0.910342	0.90399	D	0.028113	0.50841	D	0.586	0.83416	0.685	0.82271	0.675445021942	0.67269	0.7804156638025578	0.77992	0.662293056713	0.58963	0.714659333229	0.69269	T	0.849206	0.96552	D	0.208191	0.74660	D	0.0612757	0.74330	D	0.997202515602112	0.91010	D	0.935406	0.75832	D	0.54776746	0.69831	0.38335246	0.63301	0.54776746	0.69832	0.38335246	0.63301	-13.879	0.92657	D	0.7325577997116286	0.81429	0.848	0.79668	P	.	.	4.810719	0.78262	26.9	0.98569775045103225	0.43089	0.99344	0.94786	D	AEFI	0.872518	0.79441	D	0.873817251556548	0.90420	10.396	0.84368298210705	0.92643	11.54514	0.999999617710239	0.74766	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	5.14	0.70008	9.249000	0.94640	11.731000	0.94998	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.401	0.90461	897	0.25382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	53.38	34	chr4	127704250	.	G	C	53.38	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.091;DP=866;ExcessHet=0;FS=313.484;InbreedingCoeff=-0.0302;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.184;SOR=8.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,17:68:67:0|1:127704250_G_C:67,0,1485:127704250	18	0	1	0
chr4	127704251	127704251	G	C	exonic	INTU	.	nonsynonymous SNV	INTU:NM_015693:exon10:c.G1527C:p.R509S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.422	0.0294672289301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.861e-07	6.84e-07	0	1.38e-06	2.522e-05	0	0	.	.	0	0	0	2.522e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	2.74	0.80084	M	1.53	0.30401	T	-3.69	0.70432	D	0.946	0.95374	-0.9212	0.45390	T	0.161	0.49581	T	10	0.8873946	0.88071	D	0.029467	0.51971	D	0.422	0.73078	0.632	0.76810	0.600287769981	0.59710	0.7881439270302629	0.78766	0.561931678665	0.52692	0.684287190437	0.64885	T	0.802902	0.94994	D	0.206707	0.74521	D	0.0591445	0.74188	D	0.99298083782196	0.83620	D	0.931307	0.74459	D	0.6339207	0.74507	0.4426484	0.67508	0.6339207	0.74508	0.4426484	0.67508	-12.454	0.86992	D	0.7346386116156443	0.81645	0.919	0.84130	P	.	.	3.328126	0.45808	22.2	0.99730259453219516	0.82690	0.92757	0.56471	D	AEFI	0.467728	0.51483	N	0.374202189461738	0.60026	4.18743	0.274963314411494	0.54081	3.574282	3.07637346592026E-5	0.03498	0.615465	0.37627	0	0.59043	0.45803	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.14	1.26	0.20534	2.073000	0.41144	2.000000	0.30117	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.553:0.0:0.447:0.0	9.093	0.35784	897	0.25382	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.1471	332.36	30	chr4	127704251	.	G	C	332.36	.	AC=5;AF=0.147;AN=34;BaseQRankSum=-2.31;DP=979;ExcessHet=1.3;FS=250.412;InbreedingCoeff=-0.1783;MLEAC=5;MLEAF=0.147;MQ=60;MQRankSum=0;QD=1.02;ReadPosRankSum=-0.241;SOR=10.112	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:51,17:68:67:0|1:127704250_G_C:67,0,1485:127704250	12	0	5	2
chr4	134199956	134199956	C	T	exonic	PABPC4L	.	nonsynonymous SNV	PABPC4L:NM_001114734:exon2:c.G1064A:p.R355H,PABPC4L:NM_001363585: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	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2	488.94	75	chr4	134199956	.	C	T	488.94	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-1.052;DP=1203;ExcessHet=2.0135;FS=205.961;InbreedingCoeff=-0.2737;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.27;ReadPosRankSum=0;SOR=7.589	GT:AD:DP:GQ:PL	0/1:47,14:61:32:32,0,830	9	0	6	4
chr4	140563137	140563137	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G601C:p.A201P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.377	0.0293953235492	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.759e-05	0.0002	3.296e-05	2.218e-05	3.267e-05	2.08e-05	1.831e-05	2.392e-05	2.122e-05	3.018e-05	0	0	0	0	0	3.267e-05	1.667e-05	2.335e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.22312	T	0.203	0.27325	T	0.949	0.53761	P	0.761	0.56482	P	0.008935	0.30598	N	0.367111	1	0.08975	N	3.205	0.89189	M	-1.23	0.78860	T	-2.05	0.47008	N	0.643	0.65501	-0.4766	0.69490	T	0.493	0.80757	T	10	0.76555115	0.76675	D	0.029395	0.51914	D	0.377	0.69527	0.425	0.47021	0.867737003841	0.86645	0.8997779227898309	0.89949	0.733378337434	0.62839	0.275326251984	0.06849	T	0.503659	0.82306	D	0.0583213	0.59402	T	-0.154002	0.58889	T	0.917825281620026	0.57582	D	0.40366	0.10339	T	0.28733265	0.51744	0.26873308	0.52745	0.28733265	0.51744	0.26873308	0.52744	-7.449	0.57250	T	.	.	0.826	0.78531	P	.	.	2.363669	0.30321	18.40	0.99216242249267406	0.55747	0.70984	0.34819	D	AEFBI	0.260905	0.37897	N	-0.150634784784455	0.35206	2.019386	-0.344403961495631	0.26682	1.475416	0.680793574183654	0.22476	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.22	0.338	0.15214	1.750000	0.37956	-0.150000	0.11428	-0.176000	0.10722	0.930000	0.32276	0.000000	0.08366	0.270000	0.23768	0.1804:0.289:0.0:0.5306	3.693	0.07887	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	7878.87	96	chr4	140563137	.	C	G	7878.87	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-2.322;DP=1983;ExcessHet=31.086;FS=206.252;InbreedingCoeff=-0.8096;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.69;ReadPosRankSum=0;SOR=12.869	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,22:89:99:.:.:285,0,2265:.	2	0	17	0
chr4	140563138	140563138	C	G	exonic	UCP1	.	nonsynonymous SNV	UCP1:NM_021833:exon4:c.G600C:p.E200D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	0.0146202776725	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	2.052e-06	1.362e-06	0	8.997e-07	0	0	.	.	0	0	0	0	0	0	8.997e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.631	0.05137	T	0.791	0.04181	T	0.004	0.12183	B	0.007	0.12992	B	0.003241	0.35241	N	0.324932	0.999999	0.08975	N	0.56	0.15190	N	-1.27	0.79277	T	-0.52	0.16187	N	0.133	0.12913	-1.0108	0.26666	T	0.158	0.49027	T	10	0.05424103	0.05744	T	0.01462	0.34856	T	0.090	0.26093	0.368	0.37687	0.494433119893	0.49078	0.5936266468194845	0.59292	0.149167586053	0.16817	0.271067947149	0.06281	T	0.121596	0.44467	T	-0.194226	0.21639	T	-0.516769	0.20622	T	0.0746878460049629	0.09294	T	0.60264	0.22576	T	0.06687306	0.14429	0.04191142	0.04870	0.06687306	0.14429	0.04191142	0.04870	-4.395	0.29489	T	.	.	0.106	0.19720	B	.	.	0.547365	0.09157	5.942	0.36715842428115708	0.02377	0.06566	0.12580	N	AEFBI	0.061408	0.11738	N	-1.30471918549485	0.03621	0.1620578	-1.29537821251235	0.04493	0.2120394	0.729658486604041	0.23029	0.554377	0.28877	0	0.547309	0.14657	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.22	-1.38	0.08554	-1.260000	0.02967	-2.964000	0.03187	-0.218000	0.08083	0.004000	0.16614	0.000000	0.08366	0.312000	0.24784	0.2442:0.2523:0.3582:0.1453	2.216	0.03717	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	9144.3	96	chr4	140563138	.	C	G	9144.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-1.858;DP=1991;ExcessHet=38.2876;FS=239.142;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.23;ReadPosRankSum=-0.093;SOR=13.038	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:65,24:89:99:.:.:306,0,2258:.	1	0	18	0
chr4	169433624	169433624	C	T	exonic	NEK1	.	nonsynonymous SNV	NEK1:NM_001374421:exon24:c.G2323A:p.G775R,NEK1:NM_001199399:exon26:c.G2515A:p.G839R,NEK1:NM_001199400:exon26:c.G2590A:p.G864R,NEK1:NM_001374420:exon27:c.G2671A:p.G891R,NEK1:NM_012224:exon27:c.G2722A:p.G908R,NEK1:NM_001199398:exon28:c.G2674A:p.G892R,NEK1:NM_001374418:exon28:c.G2806A:p.G936R,NEK1:NM_001374419:exon28:c.G2722A:p.G908R,NEK1:NM_001199397:exon29:c.G2806A:p.G936R	Short-rib thoracic dysplasia 6 with or without polydactyly, Autosomal recessive, Digenic recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.117	0.0249401505495	.	.	8.305e-06	0	0	0	0	1.503e-05	0	0	6.5e-06	1	154602	rs752830071	1.3e-05	1.3e-05	1.498e-05	1.101e-05	0.0003	8.32e-06	6.7e-06	6.099e-05	2.524e-05	0	2.236e-05	0	0	0	0.0003	1.349e-05	1.658e-05	0	1.315e-05	1.314e-05	1.285e-05	1.346e-05	1.47e-05	2.18e-06	8.2e-07	.	.	0	0	0	0	0	0	0.0032	1.47e-05	0	0	0.343	0.13834	T	0.501	0.11153	T	0.001	0.14655	B	0.002	0.11217	B	0.695417	0.06171	N	1.161110	1	0.08975	N	0.375	0.12094	N	-0.27	0.67712	T	-0.32	0.13611	N	0.026	0.06454	-0.9787	0.35299	T	0.156	0.48807	T	10	0.06366277	0.08326	T	0.02494	0.47924	T	0.117	0.32689	0.052	0.00113	0.558342666981	0.55495	0.023906102697269175	0.02341	0.062132196771	0.06914	0.236442580819	0.02479	T	0.038653	0.24916	T	-0.30317	0.08363	T	-0.590394	0.13631	T	0.02988499095839	0.01971	T	0.737626	0.35462	T	0.07507729	0.16890	0.06736327	0.13927	0.07507729	0.16890	0.06736327	0.13926	-4.27	0.28093	T	0.12679892857863995	0.12867	0.067	0.06942	B	.;.;.;.;.	.;.;.;.;.	0.776407	0.11463	8.069	0.53384445741817477	0.04929	0.00534	0.02469	N	AEFI	0.028899	0.02629	N	-1.15316192700333	0.05728	0.2618932	-1.20080478017383	0.05898	0.2823223	0.983745138953857	0.30608	0.638212	0.43195	0	0.633656	0.55848	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.65	-4.06	0.03718	0.505000	0.22352	-0.235000	0.10642	0.594000	0.32500	0.000000	0.06391	0.000000	0.08366	0.015000	0.10482	0.0:0.2921:0.0:0.7079	13.557	0.61225	907	0.22727	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1345.33	35	chr4	169433624	.	C	T	1345.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.493;DP=750;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=0.43;SOR=0.76	GT:AD:DP:GQ:PL	0/1:48,60:108:99:1359,0,1053	18	0	1	0
chr4	176711629	176711629	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C574G:p.L192V	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.389	0.00457388535514	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.36233	T	0.018	0.17786	B	0.016	0.17743	B	0.000002	0.62929	D	0.060984	0.999978	0.53665	D	1.445	0.36358	L	.	.	.	.	.	.	0.211	0.23506	-0.9162	0.46063	T	0.201	0.55723	T	9	0.21782258	0.38406	T	0.004574	0.11283	T	.	.	0.338	0.32816	0.258283824007	0.25425	0.20722753188937795	0.20638	.	.	0.476231843233	0.35538	T	0.511562	0.82742	D	-0.225602	0.17235	T	-0.561838	0.16204	T	0.975354909896851	0.70898	D	0.818018	0.47523	T	0.68111783	0.77030	0.5560567	0.74322	0.68111783	0.77031	0.5560567	0.74323	-3.092	0.11205	T	.	.	0.149	0.32898	B	.	.	2.846774	0.37571	20.5	0.99481528693655874	0.66904	0.93293	0.57830	D	AEFDGBIJ	0.738481	0.68334	D	0.0495151208025927	0.44120	2.691901	0.265583808111138	0.53542	3.522512	0.999999999071338	0.74766	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	4.780000	0.62075	7.388000	0.58495	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1776.23	84	chr4	176711629	.	G	C	1776.23	.	AC=10;AF=0.263;AN=38;BaseQRankSum=-5.364;DP=1305;ExcessHet=6.9875;FS=98.024;InbreedingCoeff=-0.3577;MLEAC=10;MLEAF=0.263;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=0.755;SOR=10.318	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,28:95:99:0|1:176711629_G_C:369,0,2517:176711629	9	0	10	0
chr4	176711631	176711631	G	C	exonic	VEGFC	.	nonsynonymous SNV	VEGFC:NM_005429:exon4:c.C572G:p.P191R	Lymphedema, hereditary, ID, Autosomal dominant	.	.	.	.	.	.	.	.	.	YES	1678376	not_specified|not_provided	MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.573	0.0164080950575	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0079	0.0007	0.0006	0.0007	0.0006	0.0006	0.0007	0.0007	0.0004	0.0001	0.0006	0.0005	0.0003	0.0004	0.0007	0.0006	0.0001	0	1.318e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.004	0.74150	D	1.0	0.90584	D	0.988	0.77976	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.78	0.81115	M	.	.	.	.	.	.	0.909	0.91047	-0.3248	0.74287	T	0.394	0.74735	T	9	0.8736812	0.86647	D	0.016408	0.37653	T	.	.	0.546	0.66015	0.51627217869	0.51271	0.670927250296511	0.67030	.	.	0.735086381435	0.72250	T	0.838317	0.96206	D	0.453469	0.92634	D	0.414	0.92543	D	0.994541704654694	0.85897	D	0.888611	0.61875	D	0.8869157	0.90244	0.57547873	0.75406	0.8869157	0.90246	0.57547873	0.75407	-14.113	0.93418	D	.	.	0.912	0.83607	P	.	.	5.440469	0.90928	32	0.99696376373392925	0.80316	0.99228	0.93120	D	AEFDGBIJ	0.929678	0.91581	D	0.858986860426177	0.89613	10.04438	0.885812039272356	0.94923	13.15767	1.0	0.98316	0.50712	0.20391	0	0.573888	0.26702	0	0.658983	0.55881	0	0.635259	0.50027	0	.	.	5.98	5.98	0.97147	9.591000	0.97403	11.818000	0.97148	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	20.437	0.99095	901	0.24189	PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain|PDGF/VEGF domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.3889	2940.87	84	chr4	176711631	.	G	C	2940.87	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-1.406;DP=1611;ExcessHet=17.0548;FS=119.901;InbreedingCoeff=-0.6179;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=1.04;SOR=11.46	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:67,28:95:99:0|1:176711629_G_C:369,0,2517:176711629	4	0	14	1
chr4	182773536	182773536	G	A	exonic	TENM3	.	nonsynonymous SNV	TENM3:NM_001080477:exon23:c.G4957A:p.G1653R	Microphthalmia, isolated, with coloboma 9, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0274089538049	.	.	8.282e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs762748213	1.368e-06	1.368e-06	0	2.751e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.995e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.303	0.14352	T	0.319	0.19188	T	0.917	0.50750	P	0.421	0.45113	B	.	.	.	.	0.999707	0.48408	D	0	0.06538	N	-2.0	0.85393	D	-0.63	0.18459	N	0.453	0.49055	-0.4494	0.70420	T	0.306	0.67694	T	9	0.22815627	0.39713	T	0.027409	0.50222	D	0.476	0.76816	0.447	0.50629	0.260580752073	0.25663	0.6704695424240541	0.66984	0.367028223889	0.38272	0.690092921257	0.65719	T	0.045427	0.27120	T	0.253115	0.78892	D	0.125806	0.78618	D	0.413473364928087	0.29447	T	0.873813	0.58316	D	0.1366303	0.31667	0.22479966	0.47403	0.1366303	0.31666	0.22479966	0.47402	-3.547	0.17096	T	0.18616930833788087	0.24219	0.391	0.59045	A	.	.	4.750526	0.76703	26.6	0.96291833613261257	0.29318	0.92252	0.55286	D	AEFGBI	0.362128	0.45149	N	0.0829722116189971	0.45670	2.819617	0.244559422937701	0.52340	3.409538	0.999992709067219	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.724815	0.87919	0	0.613276	0.41899	0	.	.	5.26	5.26	0.73479	2.380000	0.43982	8.646000	0.77914	0.676000	0.76740	0.997000	0.40164	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	19.075	0.93139	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1247.33	34	chr4	182773536	.	G	A	1247.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=723;ExcessHet=0;FS=1.495;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=1.09;SOR=0.555	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1261,0,1423	18	0	1	0
chr4	185346597	185346597	A	G	exonic	SNX25	.	nonsynonymous SNV	SNX25:NM_001317781:exon13:c.A1756G:p.I586V,SNX25:NM_001378034:exon13:c.A2248G:p.I750V,SNX25:NM_001378035:exon13:c.A2248G:p.I750V,SNX25:NM_001378036:exon13:c.A2248G:p.I750V,SNX25:NM_001378037:exon13:c.A2248G:p.I750V,SNX25:NM_001378032:exon14:c.A2347G:p.I783V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	.	.	0.00119808	0.0010	0	0	0.0127	0	1.501e-05	0	0.0004	0.0008021	124	154602	rs3756275	0.0003	0.0003	0.0003	0.0003	0.0101	0.0003	0.0003	0.0093	0.0090	0	0	0	0.0101	1.876e-05	0	1.175e-05	0.0002	0.0004	0.0004	0.0004	0.0004	0.0004	0.0100	0.0003	0.0003	0.0079	0.0071	0	0	6.537e-05	0	0.0100	9.418e-05	0	1.47e-05	0	0.0004	0.702	0.04148	T	0.42	0.19908	T	0.001	0.07471	B	0.014	0.16862	B	0.020551	0.27016	N	0.429763	0.937129	0.26899	N	0.77	0.19370	N	1.11	0.38883	T	-0.11	0.08653	N	0.09	0.06854	-1.0457	0.15621	T	0.042	0.17952	T	10	0.006334424	0.00143	T	.	.	.	0.063	0.18251	.	.	0.17258766438	0.16869	0.13737349135907523	0.13661	0.14544047076	0.16437	0.344366461039	0.17088	T	0.005339	0.04790	T	-0.649457	0.00073	T	-0.695288	0.06087	T	0.00391087823129396	0.00041	T	0.829517	0.49484	T	0.0316539	0.03045	0.042542018	0.05090	0.0316539	0.03045	0.042542018	0.05089	-3.982	0.24654	T	.	.	0.055	0.00361	B	.;.;.	.;.;.	0.001921	0.04295	1.079	0.48618540235496155	0.04072	0.12014	0.17006	N	AEFBI	0.068552	0.13528	N	-1.12345285230424	0.06228	0.2861271	-1.07918459535527	0.08111	0.3973716	0.999983264029797	0.51787	0.732398	0.92422	0	0.698795	0.70079	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	5.28	-5.36	0.02480	-0.241000	0.08958	-0.374000	0.09587	-0.065000	0.16512	0.007000	0.17678	0.000000	0.08366	0.994000	0.71098	0.3932:0.0:0.6068:0.0	16.115	0.81112	940	0.13648	.;Phox homologous domain|Phox homologous domain|Phox homologous domain|SNX25, PX domain;Phox homologous domain|Phox homologous domain|Phox homologous domain|SNX25, PX 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	.	.	.	.	.	.	.	.	0.02632	563.33	34	chr4	185346597	.	A	G	563.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.81;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.43;ReadPosRankSum=0.868;SOR=0.58	GT:AD:DP:GQ:PL	0/1:29,25:54:99:577,0,600	18	0	1	0
chr4	185415786	185415786	C	T	exonic	UFSP2	.	nonsynonymous SNV	UFSP2:NM_018359:exon5:c.G415A:p.G139R	.	.	.	.	.	.	.	.	.	.	.	3491276	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.0112985912673	7.7e-05	.	1.649e-05	9.63e-05	8.652e-05	0	0	0	0	0	1.94e-05	3	154602	rs368418190	1.026e-05	1.026e-05	1.362e-05	6.877e-06	4.473e-05	6.16e-06	4.89e-06	7.41e-06	5.03e-06	0	4.473e-05	0	0	0	0	1.169e-05	0	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	2.941e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.414e-05	0	0	0	0	0	0	2.941e-05	0	0	0.528	0.07071	T	0.534	0.09965	T	0.003	0.11197	B	0.001	0.04355	B	0.120840	0.19019	N	0.564644	1	0.08975	N	0.69	0.16971	N	1.6	0.28604	T	1.05	0.01314	N	0.252	0.28498	-1.0160	0.25013	T	0.103	0.37869	T	10	0.042892963	0.03083	T	0.011299	0.28784	T	0.065	0.18881	0.32	0.29902	0.251639045875	0.24756	0.2662064763357304	0.26533	0.0856962128083	0.09686	0.338303357363	0.16183	T	0.003426	0.02829	T	-0.317353	0.07117	T	-0.512104	0.21099	T	0.0650418102741241	0.07937	T	0.782522	0.41827	T	0.022897625	0.00986	0.03717971	0.03315	0.022897625	0.00986	0.03717971	0.03315	-3.739	0.19895	T	.	.	0.097	0.15743	B	.	.	2.123456	0.27030	17.32	0.82843262029878006	0.14404	0.05337	0.11192	N	AEFBI	0.055984	0.10313	N	-0.0756945678816477	0.38461	2.252959	-0.0780193410086855	0.36301	2.110804	0.989599887989064	0.31876	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.22	4.38	0.52019	2.016000	0.40591	2.720000	0.34304	0.599000	0.40250	0.029000	0.20367	0.903000	0.28003	0.806000	0.37994	0.0:0.6983:0.0:0.3017	6.951	0.23726	945	0.12563	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1272.33	33	chr4	185415786	.	C	T	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.74;DP=725;ExcessHet=0;FS=0.743;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=-0.2;SOR=0.803	GT:AD:DP:GQ:PL	0/1:57,50:107:99:1286,0,1320	18	0	1	0
chr4	188139649	188139649	T	A	exonic	TRIML1	.	nonsynonymous SNV	TRIML1:NM_178556:exon1:c.T91A:p.C31S	.	430	1071	19	2	0	23	0.0106236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.541	.	0.0083	0.00299521	0.0072	0.0024	0.0042	0	0.0035	0.0107	0.0078	0.0035	0.0072379	1119	154602	rs62618670	0.0097	0.0097	0.0097	0.0097	0.0113	0.0096	0.0095	0.0111	0.0111	0.0020	0.0053	0.0068	5.04e-05	0.0039	0.0109	0.0113	0.0089	0.0039	0.0075	0.0075	0.0081	0.0070	0.0120	0.0072	0.0070	0.0113	0.0110	0.0019	0.0263	0.0096	0.0072	0	0.0028	0.0102	0.0120	0.0052	0.0023	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000027	0.55875	D	0.000000	0.999839	0.49637	D	4.42	0.98718	H	0.57	0.54347	T	-9.34	0.98340	D	0.952	0.96072	0.257	0.86855	D	0.428	0.77055	T	10	0.018459052	0.00402	T	.	.	.	0.541	0.80842	0.96	0.99583	0.735379351521	0.73301	0.6699191004055212	0.66929	0.283721209908	0.30810	0.642670512199	0.58944	T	0.18462	0.53733	T	-0.311884	0.07584	T	-0.211381	0.53562	T	0.121879094384851	0.14612	T	0.979302	0.92791	D	0.9858612	0.99523	0.9732791	0.99600	0.9858612	0.99523	0.9732791	0.99600	-8.917	0.67161	D	.	.	0.924	0.84533	P	.	.	4.688179	0.75090	26.3	0.99441462626623878	0.64770	0.98736	0.86194	D	AEFI	0.876536	0.80060	D	1.02061756839301	0.96344	14.58287	0.923185732623559	0.96505	14.77977	0.999213322290424	0.38775	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.59	5.59	0.84677	7.131000	0.76850	3.822000	0.39956	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:0.0:1.0	14.037	0.64172	985	0.02828	Zinc finger, RING-type, conserved site|Zinc finger, RING-type|Zinc finger, RING-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	0.010574	0.005051	0.010870	0.005848	0.000000	0.008621	0.018293	0.007576	0.05263	2002.83	34	chr4	188139649	.	T	A	2002.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.46;DP=783;ExcessHet=0.119;FS=13.549;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.12;ReadPosRankSum=0.34;SOR=0.828	GT:AD:DP:GQ:PL	0/1:53,35:88:99:747,0,1353	17	0	2	0
chr4	189957425	189957425	A	G	exonic	FRG1	.	nonsynonymous SNV	FRG1:NM_004477:exon6:c.A460G:p.S154G	.	1	846	675	0	0	675	0.285171	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.185	0.011311376018	.	.	.	.	.	.	.	.	.	.	.	.	.	rs189762674	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.05061	T	1.0	0.03232	T	0.047	0.21998	B	0.081	0.28987	B	0.000000	0.84330	D	0.000000	0.999996	0.58761	D	.	.	.	2.6	0.41750	T	0.43	0.08971	N	0.459	0.49602	-1.0801	0.07330	T	0.058	0.24391	T	10	0.2421839	0.41410	T	0.011311	0.28804	T	0.185	0.45933	0.71	0.84601	0.556105722742	0.55269	0.4529120959340938	0.45209	0.26085393997	0.28643	0.762159407139	0.76251	T	0.040046	0.25396	T	0.00380976	0.52179	T	-0.232304	0.51549	T	0.277109354734421	0.24049	T	.	.	.	0.28638732	0.51655	0.3411275	0.59856	0.28638732	0.51655	0.3411275	0.59855	-6.244	0.48277	T	.	.	0.080	0.07937	B	.;.;.	.;.;.	3.090452	0.41606	21.4	0.25288622774737562	0.01159	0.90585	0.51883	D	AEDGBI	0.513229	0.54111	D	-0.436064510326238	0.24215	1.305949	-0.265167819402356	0.29255	1.637516	0.999920515020144	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.644132	0.48003	0	0.683672	0.66515	0	.	.	4.19	4.19	0.48645	5.243000	0.65217	7.387000	0.58489	-0.212000	0.08331	1.000000	0.71638	1.000000	0.68203	0.404000	0.26872	1.0:0.0:0.0:0.0	11.575	0.50111	991	0.01385	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1944	1715.13	137	chr4	189957425	.	A	G	1715.13	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-0.209;DP=2042;ExcessHet=2.9153;FS=2.505;InbreedingCoeff=-0.2471;MLEAC=7;MLEAF=0.194;MQ=46.97;MQRankSum=-1.588;QD=2.23;ReadPosRankSum=-0.709;SOR=0.94	GT:AD:DP:GQ:PL	0/1:67,19:86:99:233,0,1789	11	0	7	1
chr5	434581	434581	C	G	exonic	AHRR	.	nonsynonymous SNV	AHRR:NM_001377236:exon11:c.C1841G:p.A614G,AHRR:NM_001377239:exon11:c.C1841G:p.A614G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00740132644651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.402e-06	1.368e-06	0	2.831e-06	9.137e-07	2.3e-07	9e-08	.	.	0	0	0	0	0	0	9.137e-07	1.694e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.31682	T	0.324	0.18903	T	0.651	0.43659	P	0.15	0.43381	B	0.062645	0.02158	N	2.037110	1	0.08975	N	1.24	0.30952	L	2.13	0.25018	T	-1.1	0.34397	N	0.236	0.26596	-0.9953	0.31218	T	0.059	0.24760	T	10	0.09944296	0.18047	T	0.007401	0.19630	T	0.045	0.12272	0.275	0.22687	0.444102476654	0.44032	0.08704438153774698	0.08638	0.216955615391	0.24212	0.405323177576	0.25808	T	0.106057	0.41707	T	-0.254168	0.13591	T	-0.602871	0.12572	T	0.28731444478035	0.24477	T	0.675632	0.28448	T	0.10975059	0.25946	0.070184916	0.14880	0.10975059	0.25946	0.070184916	0.14879	-3.103	0.11330	T	.	.	0.094	0.25166	B	.;.;.;.	.;.;.;.	0.903565	0.12774	9.293	0.96366413413184671	0.29570	0.34353	0.25047	N	AEFDGBCI	0.068185	0.13440	N	-0.575793876995246	0.19682	1.031988	-0.644486031585379	0.18356	0.9802229	0.999999882348898	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.576033	0.28219	0	0.635551	0.53088	0	.	.	4.75	3.88	0.43959	0.423000	0.21032	1.529000	0.27146	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.001000	0.02609	0.0:0.9065:0.0:0.0935	10.844	0.45938	851	0.35303	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1108.33	37	chr5	434581	.	C	G	1108.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.23;DP=863;ExcessHet=0;FS=3.637;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=1.44;SOR=0.422	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1122,0,1414	18	0	1	0
chr5	1038305	1038305	C	T	exonic	NKD2	.	nonsynonymous SNV	NKD2:NM_033120:exon10:c.C1288T:p.R430W	.	440	1078	3	0	1	4	0.00138953	.	.	.	3362195	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.064	0.0417665895515	.	0.000199681	0.0004	0	0	0	0	0	0	0.0011	7.12e-05	11	154602	rs550078185	0.0001	0.0001	0.0001	0.0002	0.0009	0.0001	0.0001	0.0007	0.0007	6.232e-05	8.157e-05	0	2.741e-05	0	0.0004	8.395e-05	0.0002	0.0009	0.0001	0.0001	0.0001	0.0001	0.0015	6.509e-05	5.321e-05	0.0007	0.0005	0	0	0.0002	0	0	0	0	8.823e-05	0	0.0015	0.043	0.41364	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000005	0.62929	U	0.000000	0.998365	0.81001	D	2.085	0.57729	M	0.26	0.59314	T	-4.65	0.79399	D	0.298	0.33687	-0.8179	0.54065	T	0.200	0.55625	T	10	0.06571761	0.08907	T	0.041767	0.60104	D	0.256	0.56694	0.37	0.38013	0.651212884413	0.64831	0.42757223575471176	0.42674	0.300067500273	0.32371	0.587402582169	0.51128	T	0.538501	0.84155	D	-0.34805	0.04851	T	-0.308105	0.43861	T	0.512789070606232	0.33100	D	0.538446	0.18153	T	0.17342444	0.38090	0.12964079	0.31166	0.17342444	0.38090	0.12964079	0.31165	-11.405	0.81832	D	.	.	0.317	0.54309	B	.	.	3.184585	0.43240	21.7	0.99708233406217994	0.81143	0.42382	0.26865	N	AEFGBI	0.281190	0.39483	N	-0.352948940419374	0.27163	1.488173	-0.499674856150576	0.22163	1.202453	0.227744558569149	0.18430	0.700653	0.57754	0	0.588066	0.40923	0	0.717052	0.78885	0	0.567892	0.33627	0	.	.	3.59	-0.942	0.09869	-0.033000	0.12196	0.716000	0.20974	-0.223000	0.07921	0.918000	0.31901	0.983000	0.30585	0.749000	0.35751	0.7758:0.2242:0.0:0.0	10.155	0.41991	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	.	.	.	.	.	.	.	.	0.02632	1030.33	35	chr5	1038305	.	C	T	1030.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.42;DP=777;ExcessHet=0;FS=1.811;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=1.2;SOR=0.586	GT:AD:DP:GQ:PL	0/1:42,39:81:99:1044,0,1034	18	0	1	0
chr5	14397101	14397101	T	C	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.T4370C:p.M1457T	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.803	0.607880101629	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	0.995	0.67487	D	0.986	0.76916	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.62	0.93917	H	-0.15	0.65192	T	-5.22	0.85103	D	0.933	0.93841	0.311	0.87728	D	0.546	0.83298	D	10	0.91930556	0.91287	D	0.60788	0.96567	D	0.803	0.93582	0.768	0.89530	0.770173575234	0.76806	0.8865844041988105	0.88627	2.08621322631	0.94675	0.935062050819	0.99249	D	0.461553	0.79828	T	0.385551	0.89062	D	0.316041	0.88925	D	0.99721485376358	0.91033	D	0.994516	0.98171	D	0.8800467	0.89670	0.8839668	0.93840	0.8800467	0.89671	0.8839668	0.93840	-12.877	0.88850	D	0.8126676643583495	0.88728	0.993	0.96223	P	.;.;.	.;.;.	4.517657	0.70805	25.6	0.98558679360083823	0.42948	0.96380	0.68855	D	AEFBHCI	0.913403	0.87534	D	0.886268292424851	0.91070	10.701	0.841236870122834	0.92495	11.45868	0.999999999999891	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	7.949000	0.87258	7.838000	0.70402	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.981000	0.58702	0.0:0.0:0.0:1.0	16.178	0.81689	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	72.83	45	chr5	14397101	.	T	C	72.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.867;DP=768;ExcessHet=0.119;FS=67.498;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=-0.18;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,14:84:64:0|1:14397101_T_C:64,0,2540:14397101	17	0	2	0
chr5	14397102	14397102	G	A	exonic	TRIO	.	nonsynonymous SNV	TRIO:NM_007118:exon29:c.G4371A:p.M1457I	Mental retardation, autosomal dominant 44, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.445	0.0409430656795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.368e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.91255	D	0.013	0.63109	D	0.979	0.59044	D	0.97	0.72226	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.245	0.63543	M	0.19	0.60236	T	-3.48	0.69357	D	0.82	0.81559	-0.4822	0.69288	T	0.387	0.74187	T	10	0.7300097	0.74233	D	0.040943	0.59658	D	0.445	0.74727	0.603	0.73466	0.508882987362	0.50527	0.8542333247851932	0.85386	2.03962625952	0.94218	0.903453052044	0.96813	D	0.394776	0.75383	T	0.315296	0.84136	D	0.215124	0.83929	D	0.961490571498871	0.66098	D	0.997445	0.98962	D	0.7682298	0.81942	0.7615341	0.85911	0.7682298	0.81943	0.7615341	0.85912	-11.132	0.80376	D	0.7776095063335766	0.85790	0.993	0.96282	P	.;.;.	.;.;.	4.666563	0.74536	26.2	0.99449286284606386	0.65172	0.97759	0.76927	D	AEFBHCI	0.904397	0.85465	D	0.618858874204644	0.74370	6.120863	0.693219286210317	0.81863	7.627383	1.0	0.98316	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.723	0.93126	0	.	.	5.65	5.65	0.86881	9.914000	0.98694	11.752000	0.95431	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.975000	0.56047	0.0:0.0:1.0:0.0	20.096	0.97848	700	0.57880	Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain;Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain|Dbl homology (DH) domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	72.83	45	chr5	14397102	.	G	A	72.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.791;DP=779;ExcessHet=0.119;FS=67.498;InbreedingCoeff=-0.0555;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.5;ReadPosRankSum=-0.132;SOR=6.357	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,14:84:64:0|1:14397101_T_C:64,0,2540:14397101	17	0	2	0
chr5	19571795	19571795	T	G	exonic	CDH18	.	nonsynonymous SNV	CDH18:NM_001167667:exon8:c.A1037C:p.N346T,CDH18:NM_001291957:exon8:c.A1037C:p.N346T,CDH18:NM_001349559:exon8:c.A1037C:p.N346T,CDH18:NM_001349560:exon8:c.A1037C:p.N346T,CDH18:NM_001349561:exon8:c.A1037C:p.N346T,CDH18:NM_004934:exon8:c.A1037C:p.N346T,CDH18:NM_001349556:exon9:c.A1037C:p.N346T,CDH18:NM_001349562:exon9:c.A368C:p.N123T,CDH18:NM_001349563:exon9:c.A368C:p.N123T,CDH18:NM_001291956:exon10:c.A1037C:p.N346T,CDH18:NM_001349558:exon11:c.A1037C:p.N346T	.	434	1076	12	0	0	12	0.00554529	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00808449363578	0.0007	.	0.0006	0.0002	8.655e-05	0	0.0002	0.0009	0	0.0004	0.0005498	85	154602	rs150989071	0.0006	0.0006	0.0006	0.0007	0.0035	0.0006	0.0006	0.0023	0.0019	0.0003	0.0005	0.0065	2.52e-05	0.0001	0.0035	0.0005	0.0011	0.0006	0.0007	0.0007	0.0006	0.0007	0.0015	0.0006	0.0005	0.0007	0.0005	0.0002	0	0.0007	0.0069	0	0	0.0102	0.0006	0.0014	0.0015	0.083	0.35918	T	0.202	0.27414	T	0.027	0.19556	B	0.038	0.23361	B	0.000002	0.62929	N	0.099811	0.998287	0.44722	D	-0.585	0.02270	N	0.89	0.45636	T	-1.63	0.39119	N	0.181	0.26596	-1.0940	0.04899	T	0.051	0.21844	T	9	0.014262378	0.00300	T	0.008084	0.21418	T	0.040	0.10527	.	.	0.602933245068	0.59976	0.2640124338119328	0.26314	0.127789886917	0.14414	0.653760254383	0.60520	T	0.071764	0.34288	T	-0.454016	0.01069	T	-0.532455	0.19043	T	0.280897378921509	0.24209	T	0.718928	0.33194	T	0.12301191	0.28893	0.15382247	0.36129	0.12301191	0.28893	0.15382247	0.36128	-6.571	0.51705	T	.	.	0.091	0.28290	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.857260	0.37744	20.6	0.98749338834504785	0.45633	0.91655	0.53983	D	AEFI	0.548506	0.56176	D	-0.325614555395689	0.28179	1.552092	-0.114986403952836	0.34785	2.004899	0.0767323530381463	0.15737	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.17	4.01	0.45821	2.671000	0.46507	4.312000	0.42972	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.163:0.837	11.304	0.48559	894	0.26265	Cadherin-like|Cadherin-like|Cadherin-like;Cadherin-like|Cadherin-like|Cadherin-like;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	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.005051	0.001359	0.002924	0.000000	0.008621	0.003067	0.000000	0.05263	2987.83	125	chr5	19571795	.	T	G	2987.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-2.873;DP=832;ExcessHet=0.119;FS=4.943;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.58;SOR=0.427	GT:AD:DP:GQ:PL	0/1:56,60:116:99:1439,0,1518	17	0	2	0
chr5	38933380	38933380	C	G	exonic	OSMR	.	nonsynonymous SNV	OSMR:NM_001323505:exon18:c.C2876G:p.P959R,OSMR:NM_001323506:exon18:c.C2879G:p.P960R,OSMR:NM_003999:exon18:c.C2876G:p.P959R	Amyloidosis, primary localized cutaneous, 1, Autosomal dominant	1	1361	149	11	0	171	0.0591082	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	.	0.0052	0.00838658	0.0113	0.0013	0.0119	0.0001	0.0029	0.0081	0.0198	0.0388	0.0100775	1558	154602	rs34080825	0.0081	0.0081	0.0068	0.0095	0.0468	0.0080	0.0079	0.0422	0.0404	0.0009	0.0093	0.0258	0.0001	0.0022	0.0468	0.0056	0.0099	0.0408	0.0065	0.0065	0.0060	0.0071	0.0330	0.0062	0.0060	0.0289	0.0273	0.0011	0	0.0092	0.0248	0.0004	0.0040	0.0646	0.0070	0.0095	0.0330	0.061	0.37118	T	0.099	0.38891	T	0.845	0.46707	P	0.467	0.46683	P	0.396557	0.04509	N	1.368040	1	0.08975	N	1.78	0.46185	L	1.06	0.39781	T	-1.96	0.45404	N	0.081	0.05670	-1.0181	0.24334	T	0.066	0.27052	T	10	0.0029414892	0.00047	T	.	.	.	0.053	0.14996	.	.	.	.	0.14100321930981063	0.14023	0.237616639877	0.26298	0.225426003337	0.01647	T	0.135175	0.46684	T	-0.569761	0.00222	T	-0.56263	0.16131	T	0.0126930513815079	0.00213	T	0.326967	0.06756	T	0.039785415	0.05556	0.073263034	0.15901	0.035993196	0.04343	0.073263034	0.15901	-4.86	0.35282	T	.	.	0.086	0.10835	B	.	.	1.366445	0.17758	13.35	0.93641793816937802	0.23520	0.23376	0.22056	N	AEFDGBI	0.077479	0.15610	N	-0.35203401344841	0.27197	1.490269	-0.476864511363895	0.22792	1.23975	0.99880471190545	0.37711	0.614807	0.35715	0	0.588015	0.36545	0	0.616094	0.41390	0	0.636168	0.56350	0	.	.	5.79	2.64	0.30504	0.371000	0.20182	0.714000	0.20960	-0.175000	0.10903	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.7212:0.0:0.2788	8.229	0.30746	261	0.89765	.	.	.	.	.	.	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	0.029204	0.030303	0.021739	0.029240	0.000000	0.017241	0.048780	0.041667	0.1053	7115.43	33	chr5	38933380	.	C	G	7115.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.67;DP=1141;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.9;ReadPosRankSum=0.513;SOR=0.681	GT:AD:DP:GQ:PL	0/1:85,74:159:99:1910,0,2140	15	0	4	0
chr5	52918874	52918874	A	G	exonic	ITGA1	.	nonsynonymous SNV	ITGA1:NM_181501:exon16:c.A2131G:p.K711E	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.00570558968817	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1256608619	4.147e-06	4.104e-06	4.122e-06	4.172e-06	2.432e-05	1.49e-06	9.8e-07	4.04e-06	1.51e-06	0	0	0	0	0	0	3.612e-06	0	2.432e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.517	0.07330	T	0.949	0.02624	T	0.629	0.40170	P	0.326	0.41929	B	0.027840	0.25696	N	0.471963	0.551645	0.32138	D	2.28	0.64929	M	0.89	0.45636	T	-1.07	0.27876	N	0.254	0.28732	-0.9903	0.32525	T	0.076	0.30553	T	10	0.26649776	0.44155	T	0.005706	0.14772	T	0.087	0.25287	0.392	0.41606	0.594763190098	0.59155	0.4809823666585849	0.48018	0.379006366498	0.39307	0.523798108101	0.42161	T	0.067601	0.33244	T	-0.0509127	0.44307	T	-0.310909	0.43559	T	0.50417560338974	0.32782	D	0.775222	0.40690	T	0.15754578	0.35494	0.14444445	0.34293	0.15754578	0.35493	0.14444445	0.34292	-8.833	0.66615	D	.	.	0.075	0.05668	B	.	.	2.918952	0.38741	20.8	0.99716763960713561	0.81773	0.79860	0.39658	D	AEFI	0.408362	0.48007	N	0.0922065738163957	0.46098	2.855645	0.226681238711263	0.51332	3.31675	0.81345949615901	0.24396	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.51	5.51	0.81769	3.106000	0.50013	11.125000	0.86648	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.9263:0.0:0.0737:0.0	10.303	0.42842	713	0.56348	Integrin alpha-2	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1414.33	34	chr5	52918874	.	A	G	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.481;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=-1.76;SOR=0.685	GT:AD:DP:GQ:PL	0/1:49,56:105:99:1428,0,1238	18	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,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.009567	0.000000	0.008152	0.008772	0.000000	0.000000	0.015244	0.015152	0.05263	2658.83	33	chr5	52945020	.	C	A	2658.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.756;DP=830;ExcessHet=0.119;FS=3.135;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.42;ReadPosRankSum=1.98;SOR=0.948	GT:AD:DP:GQ:PL	0/1:55,68:123:99:1707,0,1332	17	0	2	0
chr5	55916796	55916796	A	-	exonic	IL31RA	.	frameshift deletion	IL31RA:NM_001242636:exon15:c.1914delA:p.T639Rfs*7,IL31RA:NM_001242637:exon15:c.1971delA:p.T658Rfs*7,IL31RA:NM_139017:exon15:c.1971delA:p.T658Rfs*7,IL31RA:NM_001242639:exon16:c.1545delA:p.T516Rfs*7,IL31RA:NM_001242638:exon17:c.1914delA:p.T639Rfs*7	Amyloidosis, primary localized cutaneous, 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2023.29	49	chr5	55916795	.	GA	G	2023.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.904;DP=879;ExcessHet=0;FS=4.313;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.06;ReadPosRankSum=0.879;SOR=0.413	GT:AD:DP:GQ:PL	0/1:61,65:126:99:2037,0,1901	18	0	1	0
chr5	59430382	59430382	C	G	exonic	PDE4D	.	nonsynonymous SNV	PDE4D:NM_001349242:exon3:c.G37C:p.G13R	Acrodysostosis 2, with or without hormone resistance, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.853e-06	1.368e-06	3.511e-06	0	0.0003	3.1e-07	1.2e-07	.	.	4.358e-05	0	0	0	0	0.0003	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.22856304	0.39763	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008984	0.08212	T	.	.	.	.	.	.	.	.	.	0.608539	0.22995	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.168	0.37044	B	.	.	3.760862	0.53966	23.4	0.68507996171951779	0.08679	0.93699	0.58939	D	AEFDI	.	.	.	.	.	.	.	.	.	0.999999867651624	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.065499	0.01848	0	0.062806	0.01542	0	0.97756	0.81275	5.32	5.32	0.75377	3.970000	0.56530	3.902000	0.40356	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.9277:0.0:0.0723	14.475	0.67120	761	0.50382	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1105.33	33	chr5	59430382	.	C	G	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=780;ExcessHet=0;FS=1.33;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.04;ReadPosRankSum=0.006;SOR=0.831	GT:AD:DP:GQ:PL	0/1:105,52:157:99:1119,0,2548	18	0	1	0
chr5	60771922	60771922	G	C	exonic	ELOVL7	.	nonsynonymous SNV	ELOVL7:NM_001104558:exon3:c.C236G:p.S79C,ELOVL7:NM_024930:exon4:c.C236G:p.S79C,ELOVL7:NM_001297617:exon6:c.C197G:p.S66C	.	434	1087	1	0	0	1	0.00045977	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.681	0.0613547569781	.	.	.	.	.	.	.	.	.	.	.	.	.	rs368309905	6.851e-07	6.84e-07	1.363e-06	0	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.45	0.71042	M	0.71	0.51228	T	-4.82	0.81107	D	0.919	0.92200	-0.4118	0.71653	T	0.341	0.70713	T	10	0.91465944	0.90828	D	0.061355	0.68304	D	0.681	0.88300	0.774	0.90002	0.610589977033	0.60745	0.7475018586076664	0.74696	0.676802285866	0.59796	0.628733038902	0.56965	T	0.205654	0.56477	T	0.304053	0.83289	D	0.198975	0.83072	D	0.998110771179199	0.93268	D	0.838216	0.51127	T	0.84997267	0.87333	0.69183075	0.81863	0.84997267	0.87335	0.69183075	0.81864	-9.27	0.69419	D	.	.	0.548	0.66743	A	.;.;.;.;.	.;.;.;.;.	5.119921	0.85627	28.7	0.99445181225394774	0.64971	0.99366	0.95088	D	AEFBI	0.941110	0.94395	D	0.93457361501928	0.93347	11.97975	0.920281621337817	0.96398	14.64769	0.999999989364752	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.73	5.73	0.89730	9.561000	0.97256	11.884000	0.98910	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.0:1.0:0.0	20.279	0.98503	0	0.99858	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	968.33	34	chr5	60771922	.	G	C	968.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.243;DP=742;ExcessHet=0;FS=3.833;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.68;ReadPosRankSum=-1.767;SOR=0.411	GT:AD:DP:GQ:PL	0/1:59,41:100:99:982,0,1495	18	0	1	0
chr5	73753050	73753050	A	G	exonic	ARHGEF28	.	nonsynonymous SNV	ARHGEF28:NM_001080479:exon4:c.A323G:p.N108S,ARHGEF28:NM_001177693:exon4:c.A323G:p.N108S	.	432	1076	14	0	0	14	0.00646353	.	.	.	795718	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.038	.	0.0030	0.00259585	0.0037	0.0010	0.0024	0	0.0116	0.0033	0.0067	0.0066	0.003053	472	154602	rs202122468	0.0034	0.0034	0.0034	0.0035	0.0059	0.0033	0.0033	0.0054	0.0053	0.0006	0.0027	0.0010	5.048e-05	0.0093	0.0026	0.0033	0.0032	0.0059	0.0030	0.0030	0.0026	0.0035	0.0044	0.0028	0.0027	0.0029	0.0028	0.0007	0	0.0024	0.0006	0.0002	0.0132	0.0068	0.0033	0.0028	0.0044	0.153	0.25355	T	0.356	0.17425	T	0.044	0.21686	B	0.009	0.14300	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	3.27	0.06602	T	-0.23	0.10656	N	0.057	0.07811	-0.9739	0.36366	T	0.012	0.04747	T	9	0.0034273565	0.00060	T	.	.	.	0.038	0.09825	.	.	0.158396225186	0.15383	0.17245385209297553	0.17165	0.0583961131483	0.06474	0.27519595623	0.06831	T	0.004213	0.03621	T	-0.692941	0.00040	T	-0.766219	0.02894	T	0.00566671547338331	0.00062	T	0.758124	0.38180	T	0.0405561	0.05810	0.04987137	0.07710	0.0405561	0.05810	0.04987137	0.07710	-1.874	0.02739	T	.	.	0.065	0.03479	B	.;.;.;.;.	.;.;.;.;.	1.794752	0.22813	15.77	0.90784544201720663	0.20033	0.04976	0.10745	N	AEFGBI	0.043377	0.06850	N	-0.785594730364349	0.13685	0.6759337	-0.712317549567663	0.16655	0.8820444	0.984326989418703	0.30699	0.67177	0.52595	0	0.546412	0.12157	0	0.618467	0.43123	0	0.711	0.71501	0	.	.	5.82	3.29	0.36801	1.239000	0.32322	2.835000	0.35045	0.756000	0.94297	0.020000	0.19661	0.396000	0.24688	0.209000	0.22154	0.6216:0.0:0.3784:0.0	6.603	0.21907	954	0.10045	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.000000	0.001359	0.000000	0.000000	0.025862	0.000000	0.003788	0.05263	5613.83	34	chr5	73753050	.	A	G	5613.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.71;DP=1034;ExcessHet=0.119;FS=0.516;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.211;SOR=0.63	GT:AD:DP:GQ:PL	0/1:90,115:205:99:2896,0,2297	17	0	2	0
chr5	78985128	78985136	CCCCGGCGC	-	exonic	ARSB	.	nonframeshift deletion	ARSB:NM_000046:exon1:c.113_121del:p.G38_G40del,ARSB:NM_198709:exon2:c.113_121del:p.G38_G40del	Mucopolysaccharidosis type VI (Maroteaux-Lamy), Autosomal recessive	3	1490	29	0	0	29	0.00963775	.	.	.	487184	not_specified|Mucopolysaccharidosis_type_6|not_provided	MedGen:CN169374|MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200,Orphanet:583|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0039	0	0.0003	0	0	0.0004	0.0071	0.0193	0.0012548	194	154602	rs550086186	0.0008	0.0008	0.0004	0.0011	0.0124	0.0007	0.0007	0.0117	0.0115	0	0	0	3.291e-05	0	0.0036	6.793e-05	0.0009	0.0124	0.0005	0.0005	0.0002	0.0008	0.0139	0.0004	0.0004	0.0112	0.0102	2.409e-05	0	6.547e-05	0	0	0	0	5.892e-05	0.0009	0.0139	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1225.29	33	chr5	78985127	.	GCCCCGGCGC	G	1225.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.472;DP=721;ExcessHet=0;FS=2.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.29;ReadPosRankSum=1.02;SOR=1.041	GT:AD:DP:GQ:PL	0/1:35,32:67:99:1239,0,1373	18	0	1	0
chr5	79737121	79737121	T	C	exonic	CMYA5	.	nonsynonymous SNV	CMYA5:NM_153610:exon2:c.T8356C:p.F2786L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00429156060246	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.027e-05	0.0012	1.322e-05	7.332e-06	6.329e-05	5.96e-06	4.66e-06	1.048e-05	4.22e-06	6.329e-05	0	0	0	0	0	1.076e-05	0	1.189e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1	0.30515	T	0.535	0.09931	T	0.307	0.32716	B	0.06	0.26717	B	0.477143	0.12208	N	0.730444	1	0.08975	N	0.55	0.14455	N	1.34	0.34841	T	-0.47	0.15178	N	0.068	0.04072	-1.0516	0.13954	T	0.048	0.20553	T	10	0.045761734	0.03686	T	0.004292	0.10404	T	0.022	0.04323	0.101	0.01536	0.0611884634855	0.05136	0.02498130375506089	0.02449	0.0683822844331	0.07654	0.305985629559	0.11300	T	0.019747	0.15676	T	-0.330161	0.06099	T	-0.71203	0.05191	T	0.0498282739417066	0.05471	T	0.564244	0.19889	T	0.05796542	0.11602	0.06227273	0.12156	0.05796542	0.11601	0.06227273	0.12155	-3.668	0.18847	T	.	.	0.511	0.65065	A	.	.	0.546264	0.09146	5.931	0.91598307684938896	0.20881	0.01020	0.03837	N	AEFBI	0.024890	0.01614	N	-0.86627449370109	0.11652	0.56346	-0.947118491995255	0.10990	0.5571424	0.997221251754495	0.35393	0.553676	0.25195	0	0.610034	0.51514	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.75	-1.25	0.08920	0.156000	0.16200	0.233000	0.16214	0.665000	0.62972	0.000000	0.06391	0.000000	0.08366	0.174000	0.21107	0.0:0.3042:0.3133:0.3826	4.559	0.11546	419	0.81524	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.1176	66.34	86	chr5	79737121	.	T	C	66.34	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.622;DP=1483;ExcessHet=0.7564;FS=179.988;InbreedingCoeff=-0.1331;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.17;ReadPosRankSum=0.685;SOR=9.967	GT:AD:DP:GQ:PL	0/1:81,19:100:2:2,0,1789	13	0	4	2
chr5	88206475	88206475	G	A	exonic	TMEM161B	.	nonsynonymous SNV	TMEM161B:NM_001349405:exon5:c.C77T:p.A26V,TMEM161B:NM_001349402:exon6:c.C77T:p.A26V,TMEM161B:NM_001349403:exon6:c.C77T:p.A26V,TMEM161B:NM_001289007:exon7:c.C623T:p.A208V,TMEM161B:NM_001349400:exon7:c.C77T:p.A26V,TMEM161B:NM_001349407:exon7:c.C623T:p.A208V,TMEM161B:NM_153354:exon7:c.C623T:p.A208V,TMEM161B:NM_001289008:exon8:c.C590T:p.A197V	.	713	803	6	0	0	6	0.00372208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007071	0.005155	0.002725	0.002924	0.000000	0.017241	0.009146	0.015152	0.02632	284.34	27	chr5	88206475	.	G	A	284.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.641;DP=558;ExcessHet=0;FS=0;InbreedingCoeff=-0.0277;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.92;ReadPosRankSum=0.134;SOR=0.693	GT:AD:DP:GQ:PL	0/1:9,13:22:99:298,0,174	18	0	1	0
chr5	119499449	119499449	T	C	exonic	HSD17B4	.	nonsynonymous SNV	HSD17B4:NM_001199292:exon12:c.T1051C:p.S351P,HSD17B4:NM_000414:exon13:c.T1105C:p.S369P,HSD17B4:NM_001292028:exon13:c.T685C:p.S229P,HSD17B4:NM_001374497:exon13:c.T1096C:p.S366P,HSD17B4:NM_001374498:exon13:c.T1105C:p.S369P,HSD17B4:NM_001374499:exon13:c.T778C:p.S260P,HSD17B4:NM_001374501:exon13:c.T694C:p.S232P,HSD17B4:NM_001374502:exon13:c.T694C:p.S232P,HSD17B4:NM_001199291:exon14:c.T1180C:p.S394P,HSD17B4:NM_001292027:exon14:c.T1033C:p.S345P,HSD17B4:NM_001374500:exon14:c.T664C:p.S222P,HSD17B4:NM_001374503:exon14:c.T694C:p.S232P	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,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	625.71	48	chr5	119499449	.	T	C	625.71	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.063;DP=1334;ExcessHet=2.0135;FS=121.192;InbreedingCoeff=-0.1823;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.12;ReadPosRankSum=1.66;SOR=10.484	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,20:83:40:0|1:119499447_G_C:40,0,1955:119499447	13	0	6	0
chr5	132660267	132660267	G	T	exonic	IL13	.	nonsynonymous SNV	IL13:NM_002188:exon4:c.G426T:p.E142D,IL13:NM_001354991:exon5:c.G231T:p.E77D,IL13:NM_001354993:exon5:c.G231T:p.E77D,IL13:NM_001354992:exon6:c.G231T:p.E77D	.	423	1096	2	1	0	4	0.00182149	.	.	.	3274824	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.018	0.00141498857204	.	.	7.421e-05	0	0	0	0	1.5e-05	0	0.0005	5.82e-05	9	154602	rs200247901	5.61e-05	5.678e-05	3.267e-05	7.976e-05	0.0006	4.61e-05	4.237e-05	0.0005	0.0004	0	2.237e-05	0	0	0	0.0003	1.079e-05	0.0002	0.0006	3.283e-05	3.281e-05	2.57e-05	4.027e-05	0.0004	1.26e-05	7.97e-06	7.287e-05	3.028e-05	0	0	0	0	0	0	0	4.41e-05	0	0.0004	0.263	0.16412	T	0.375	0.16231	T	.	.	.	.	.	.	0.012853	0.01347	N	2.726190	1	0.08975	N	.	.	.	0.98	0.42122	T	-0.66	0.19085	N	0.046	0.01825	-1.0474	0.15130	T	0.044	0.18989	T	10	0.018843383	0.00414	T	0.001415	0.02088	T	0.018	0.03083	0.156	0.05964	0.0846915920261	0.08053	0.091215448853235	0.09054	0.122369866137	0.13789	0.326947391033	0.14472	T	.	.	.	-0.549821	0.00292	T	-0.699596	0.05848	T	0.10210024667692	0.12587	T	0.291871	0.05342	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.124	0.25946	B	.;.	.;.	-2.629487	0.00023	0.001	0.8178646808605653	0.13859	0.01197	0.04272	N	AEFGBCI	0.021014	0.00891	N	-1.86363704774965	0.00407	0.01751439	-1.94980623946328	0.00389	0.01719712	0.999999986970048	0.74766	0.428477	0.06694	0	0.587068	0.34093	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.36	-8.72	0.00731	-3.377000	0.00546	-20.000000	0.00162	-0.392000	0.05338	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.6277:0.2182:0.1541	10.314	0.42907	882	0.29131	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1514.33	72	chr5	132660267	.	G	T	1514.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.18;DP=1044;ExcessHet=0;FS=1.456;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=0.59;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,60:119:99:0|1:132660267_G_T:1528,0,2242:132660267	18	0	1	0
chr5	132864353	132864353	G	C	exonic	GDF9	.	nonsynonymous SNV	GDF9:NM_005260:exon1:c.C181G:p.L61V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.148	0.0193298004431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.42783	D	0.099	0.38891	T	0.9	0.49598	P	0.343	0.42509	B	0.003935	0.34318	N	0.311977	0.999995	0.08975	N	2.42	0.70002	M	0.19	0.60236	T	-0.72	0.20358	N	0.157	0.16308	-0.8257	0.53575	T	0.190	0.54108	T	10	0.2955783	0.47126	T	0.01933	0.41663	T	0.148	0.39182	0.377	0.39156	0.708705863831	0.70616	0.19792167272459063	0.19709	0.0415351482305	0.04460	0.339318692684	0.16335	T	0.456861	0.79546	T	-0.199135	0.20931	T	-0.52382	0.19909	T	0.453734338283539	0.30934	T	0.566043	0.20025	T	0.07196072	0.15972	0.080344625	0.18168	0.07196072	0.15972	0.080344625	0.18167	-3.41	0.15191	T	.	.	0.077	0.06295	B	.	.	2.312643	0.29604	18.18	0.99155670109324467	0.53931	0.89090	0.49350	D	AEFDBI	0.238694	0.36078	N	0.0574970633272622	0.44489	2.721939	0.0374256184061307	0.41469	2.491804	0.99991686312002	0.45857	0.554377	0.28877	0	0.588066	0.40923	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	6.02	3.18	0.35615	2.648000	0.46313	4.521000	0.43687	-0.140000	0.12423	1.000000	0.71638	1.000000	0.68203	0.534000	0.29800	0.2177:0.1305:0.6517:0.0	6.399	0.20829	902	0.24074	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	132.28	33	chr5	132864353	.	G	C	132.28	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-5.037;DP=1045;ExcessHet=0.3672;FS=119.974;InbreedingCoeff=-0.0754;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.625;SOR=8.662	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:91,13:107:3:.:.:3,0,3483:.	16	0	3	0
chr5	135446471	135446471	G	A	exonic	DCANP1	.	nonsynonymous SNV	DCANP1:NM_130848:exon1:c.C638T:p.T213I	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.00702022922797	.	0.000399361	0.0002	0	8.639e-05	0	0	0	0	0.0011	0.0001358	21	154602	rs531198567	9.031e-05	9.029e-05	5.037e-05	0.0001	0.0011	7.757e-05	7.3e-05	0.0010	0.0009	0	4.472e-05	0	0	0	0	2.248e-05	9.938e-05	0.0011	2.626e-05	2.624e-05	3.853e-05	1.342e-05	0.0006	8.14e-06	5.14e-06	0.0002	8.985e-05	0	0	0	0	0	0	0	1.47e-05	0	0.0006	.	.	.	.	.	.	0.4	0.34852	B	0.118	0.32088	B	.	.	.	.	1	0.08975	N	0	0.06538	N	1.21	0.37230	T	-5.25	0.84035	D	0.065	0.03726	-1.0394	0.17495	T	0.040	0.17277	T	9	0.011543781	0.00252	T	0.00702	0.18594	T	0.044	0.11924	0.163	0.06730	0.0297737177859	0.01360	0.0014563695207016243	0.00134	0.0454073510886	0.04925	.	.	.	0.048063	0.27906	T	-0.608404	0.00130	T	-0.692258	0.06260	T	0.0875162261901039	0.10919	T	0.332167	0.06971	T	0.30386475	0.53249	0.16373281	0.37966	0.30386475	0.53249	0.16373281	0.37965	-4.138	0.25848	T	.	.	0.292	0.52318	B	.	.	1.176151	0.15662	12.01	0.45837588787108879	0.03627	0.03251	0.08277	N	AEFDBI	0.047817	0.08093	N	-1.07923910788671	0.07026	0.325207	-1.14916151222811	0.06783	0.3276759	0.90825749884406	0.26280	0.497415	0.19182	0	0.491513	0.07743	0	0.48864	0.07692	0	0.542086	0.14980	0	.	.	3.31	0.535	0.16326	0.473000	0.21843	1.652000	0.27851	-0.169000	0.11342	0.001000	0.13787	0.036000	0.21445	0.001000	0.02609	0.3957:0.0:0.6043:0.0	5.249	0.14827	603	0.67726	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2385.33	35	chr5	135446471	.	G	A	2385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.66;DP=845;ExcessHet=0;FS=1.832;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=0.201;SOR=0.556	GT:AD:DP:GQ:PL	0/1:94,93:187:99:2399,0,2356	18	0	1	0
chr5	136055734	136055734	G	C	exonic	TGFBI	.	nonsynonymous SNV	TGFBI:NM_000358:exon11:c.G1465C:p.G489R	Corneal dystrophy, Avellino type, Autosomal dominant;Corneal dystrophy, Groenouw type I, Autosomal dominant;Corneal dystrophy, Reis-Bucklers type;Corneal dystrophy, Thiel-Behnke type, Autosomal dominant;Corneal dystrophy, epithelial basement membrane, Autosomal dominant;Corneal dystrophy, lattice type I, Autosomal dominant;Corneal dystrophy, lattice type IIIA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.428	0.189405449353	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.995	0.83170	D	0.000000	0.84330	D	0.044637	1	0.81001	D	1.96	0.53105	M	-3.45	0.94469	D	-6.13	0.90100	D	0.863	0.85979	-0.0558	0.81083	T	0.520	0.82072	D	10	0.9899493	0.99479	D	0.189405	0.86060	D	0.754	0.91583	0.946	0.99325	0.97030895582	0.96999	0.9698763578687539	0.96975	0.0693150109517	0.07761	0.685180604458	0.65013	T	0.947327	0.99215	D	0.464101	0.93103	D	0.428873	0.93017	D	0.993617653846741	0.84484	D	0.927407	0.73262	D	0.98231125	0.99281	0.9520083	0.98520	0.98231125	0.99281	0.9520083	0.98520	-13.06	0.89609	D	0.7900606666327733	0.86863	0.972	0.89712	P	.	.	4.805309	0.78123	26.8	0.99937694532275989	0.99661	0.98378	0.82168	D	AEFBCI	0.983495	0.99926	D	0.677080024351857	0.78131	6.810037	0.741768832391626	0.85540	8.611375	1.0	0.98316	0.706298	0.61202	0	0.563428	0.19063	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	6.17	6.17	0.99707	9.940000	0.98890	11.878000	0.98757	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.838000	0.39538	0.0:0.0:1.0:0.0	20.879	0.99870	775	0.48401	FAS1 domain|FAS1 domain|FAS1 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	.	.	.	.	.	.	.	.	0.02632	1823.33	38	chr5	136055734	.	G	C	1823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.849;DP=806;ExcessHet=0;FS=1.423;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.92;ReadPosRankSum=-1.117;SOR=0.898	GT:AD:DP:GQ:PL	0/1:55,76:131:99:1837,0,1139	18	0	1	0
chr5	139887481	139887481	C	T	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G731A:p.S244N,NRG2:NM_004883:exon2:c.G731A:p.S244N,NRG2:NM_013981:exon2:c.G731A:p.S244N,NRG2:NM_013982:exon2:c.G731A:p.S244N,NRG2:NM_013983:exon2:c.G731A:p.S244N	.	.	.	.	.	.	.	.	.	.	.	2325350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.031	0.00739077046255	.	.	8.286e-06	0	0	0	0	1.505e-05	0	0	6.5e-06	1	154602	rs774596341	1.371e-06	1.369e-06	1.365e-06	1.378e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	6.59e-06	6.574e-06	0	1.35e-05	1.471e-05	0	0	.	.	0	0	0	0	0	0	0	1.471e-05	0	0	0.184	0.23360	T	0.164	0.31026	T	0.087	0.26037	B	0.062	0.30857	B	0.000522	0.43581	N	0.227934	0.755028	0.33972	D	0.135	0.08676	N	1.58	0.29085	T	-0.32	0.21003	N	0.423	0.46274	-1.0194	0.23910	T	0.045	0.19518	T	10	0.22371674	0.39157	T	0.007391	0.19603	T	0.031	0.07369	0.366	0.37361	0.498748557451	0.49510	0.4556412808571356	0.45482	0.884494878246	0.69920	0.694656133652	0.66374	T	0.195255	0.55127	T	-0.302609	0.08415	T	-0.672453	0.07451	T	0.361964405132886	0.27486	T	0.79652	0.44558	T	0.08836372	0.20609	0.102840796	0.24660	0.08836372	0.20609	0.102840796	0.24659	-7.518	0.70016	D	.	.	0.221	0.45409	B	.;.;.;.;.;.	.;.;.;.;.;.	3.573511	0.50344	22.9	0.99603636505572957	0.74338	0.69576	0.34242	D	AEFBI	0.254283	0.37363	N	-0.162749740398921	0.34693	1.983396	0.0478054099699094	0.41967	2.53021	0.600115135775481	0.21718	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	5.29	0.74430	2.879000	0.48220	5.991000	0.52331	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.9072:0.0:0.0928	10.020	0.41207	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2059	985.91	191	chr5	139887481	.	C	T	985.91	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.303;DP=2082;ExcessHet=2.9153;FS=241.35;InbreedingCoeff=-0.3001;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.1;ReadPosRankSum=0.942;SOR=11.574	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,27:123:99:.:.:211,0,2744:.	10	0	7	2
chr5	139887483	139887483	C	G	exonic	NRG2	.	nonsynonymous SNV	NRG2:NM_001184935:exon2:c.G729C:p.K243N,NRG2:NM_004883:exon2:c.G729C:p.K243N,NRG2:NM_013981:exon2:c.G729C:p.K243N,NRG2:NM_013982:exon2:c.G729C:p.K243N,NRG2:NM_013983:exon2:c.G729C:p.K243N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.0404591134086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	0.0001	0	1.376e-06	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.61437	D	0.159	0.58089	T	0.355	0.51611	B	0.285	0.52567	B	0.000553	0.43413	D	0.190992	0.843543	0.35106	D	0.855	0.21307	L	-0.42	0.69536	T	-2.26	0.50502	N	0.611	0.62781	-0.5718	0.65943	T	0.250	0.61993	T	10	0.51356286	0.62236	D	0.040459	0.59387	D	0.129	0.35316	0.432	0.48171	0.770213433332	0.76810	0.7045747211234696	0.70399	1.82077106802	0.91947	0.807813405991	0.83157	D	0.308239	0.68034	T	-0.142554	0.29486	T	-0.442546	0.28523	T	0.832137286663055	0.48697	D	0.877812	0.59215	D	0.16882665	0.37363	0.1489359	0.35185	0.16882665	0.37363	0.1489359	0.35184	-8.046	0.70185	D	.	.	0.798	0.86783	P	.;.;.;.;.;.	.;.;.;.;.;.	3.258046	0.44540	22.0	0.99831464818289628	0.91284	0.76178	0.37342	D	AEFBI	0.317848	0.42172	N	-0.0410797527166822	0.40002	2.368239	-0.0277489813419687	0.38467	2.266707	0.00604997340288372	0.11113	0.562547	0.31514	0	0.653731	0.59785	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	5.29	1.49	0.21966	0.199000	0.17037	0.102000	0.14662	-0.182000	0.10109	0.995000	0.38783	0.922000	0.28345	0.994000	0.71098	0.0:0.6914:0.0:0.3086	8.579	0.32777	21	0.98493	Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;Immunoglobulin I-set|Immunoglobulin-like domain|Immunoglobulin subtype;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2059	1237.29	191	chr5	139887483	.	C	G	1237.29	.	AC=7;AF=0.206;AN=34;BaseQRankSum=-4.683;DP=1976;ExcessHet=5.3738;FS=248.454;InbreedingCoeff=-0.3809;MLEAC=8;MLEAF=0.235;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.756;SOR=11.622	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:89,34:123:99:.:.:273,0,2739:.	10	0	7	2
chr5	140786949	140786949	C	A	exonic	PCDHA1	.	nonsynonymous SNV	PCDHA1:NM_018900:exon1:c.C659A:p.P220Q,PCDHA1:NM_031410:exon1:c.C659A:p.P220Q,PCDHA1:NM_031411:exon1:c.C659A:p.P220Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.0644882458768	0.0009	0.000599042	0.0003	0.0019	0.0003	0	0	0.0002	0.0011	0	0.0002523	39	154602	rs149577981	0.0002	0.0002	0.0002	0.0001	0.0026	0.0001	0.0001	0.0022	0.0020	0.0026	0.0007	0	0	0	0.0010	7.554e-05	0.0003	1.159e-05	0.0010	0.0010	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0022	0.0027	0	0.0017	0	0	0	0.0034	7.35e-05	0.0024	0	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.97372	D	0.000661	0.42656	U	0.000000	0.999419	0.49637	D	3.985	0.96662	H	0.51	0.55439	T	-7.52	0.95511	D	0.635	0.80572	0.388	0.88909	D	0.500	0.81091	T	10	0.10058892	0.18328	T	0.064488	0.69294	D	0.478	0.76946	.	.	0.871671135437	0.87042	0.2652070297385214	0.26433	0.971337437332	0.73375	.	.	.	0.427812	0.77716	T	-0.224236	0.17419	T	-0.100424	0.63365	T	0.258169126413849	0.23235	T	0.991581	0.97347	D	0.8010245	0.83971	0.8099672	0.88898	0.8010245	0.83972	0.8099672	0.88898	-10.702	0.78140	D	.	.	0.324	0.63100	B	.;.;.	.;.;.	4.370399	0.67286	25.1	0.99057717882984875	0.51413	0.99508	0.96874	D	AEFDBI	0.878409	0.80366	D	0.864117441316384	0.89897	10.16432	0.699167843085057	0.82313	7.736776	0.999999998811577	0.74766	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	4.19	4.19	0.48645	7.903000	0.86133	.	.	0.599000	0.40250	1.000000	0.71638	0.968000	0.29604	0.980000	0.58198	0.0:1.0:0.0:0.0	16.871	0.85906	19	0.98577	.;.;Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.004532	0.015152	0.008152	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2637.33	42	chr5	140786949	.	C	A	2637.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.49;DP=868;ExcessHet=0;FS=6.598;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=0.512;SOR=0.434	GT:AD:DP:GQ:PL	0/1:116,101:217:99:2651,0,2963	18	0	1	0
chr5	140842421	140842421	C	T	exonic	PCDHA8	.	nonsynonymous SNV	PCDHA8:NM_018911:exon1:c.C1100T:p.T367I,PCDHA8:NM_031856:exon1:c.C1100T:p.T367I	.	418	1102	2	0	0	2	0.000906618	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.398	0.0266040147946	0.001	0.000599042	0.0003	0.0019	0.0003	0	0	0.0002	0.0011	0	0.0002717	42	154602	rs142074942	0.0002	0.0002	0.0002	0.0002	0.0027	0.0002	0.0002	0.0022	0.0021	0.0027	0.0007	0	0	3.745e-05	0.0023	0.0001	0.0003	1.159e-05	0.0010	0.0010	0.0009	0.0011	0.0027	0.0009	0.0008	0.0023	0.0022	0.0027	0	0.0017	0	0	0	0.0034	8.826e-05	0.0024	0	0.006	0.61437	D	0.01	0.70582	D	0.993	0.67487	D	0.942	0.68163	D	0.001964	0.37549	U	0.000000	1	0.81001	D	3.31	0.90591	M	0.35	0.58029	T	-5.73	0.87611	D	0.641	0.65416	-0.3429	0.73759	T	0.329	0.69674	T	10	0.13645485	0.25963	T	0.026604	0.49502	D	0.398	0.71242	.	.	0.767570153291	0.76544	0.46623142669597106	0.46542	.	.	.	.	.	0.089133	0.38307	T	-0.219384	0.18078	T	-0.0934538	0.63901	T	0.0698950236669835	0.08636	T	0.864814	0.56255	D	0.5285738	0.68750	0.5590209	0.74488	0.5285738	0.68751	0.5590209	0.74488	-11.176	0.81246	D	.	.	0.277	0.51050	B	.;.	.;.	3.481322	0.48618	22.6	0.99821457333126595	0.90414	0.89902	0.50675	D	AEFDGBCI	0.466319	0.51402	N	0.293513188981482	0.55819	3.746027	0.134735302186989	0.46336	2.881423	0.961409727576456	0.28552	0.553676	0.25195	0	0.588015	0.36545	0	0.536957	0.11973	0	0.613276	0.41899	0	.	.	3.57	3.57	0.40014	2.700000	0.46753	.	.	0.465000	0.21702	0.981000	0.35396	0.000000	0.08366	0.037000	0.13953	0.0:1.0:0.0:0.0	15.579	0.76157	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	0.004536	0.010101	0.008152	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	5107.33	173	chr5	140842421	.	C	T	5107.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.237;DP=2691;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.59;MQRankSum=0.025;QD=12.13;ReadPosRankSum=-0.694;SOR=0.653	GT:AD:DP:GQ:PL	0/1:223,198:421:99:5121,0,6014	18	0	1	0
chr5	141096081	141096081	C	A	exonic	PCDHB2	.	nonsynonymous SNV	PCDHB2:NM_018936:exon1:c.C1291A:p.P431T	.	407	1061	53	1	0	55	0.0252641	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.365	.	0.0038	0.00958466	0.0089	0.0003	0.0015	0.0003	0.0038	0.0050	0.0110	0.0421	0.0078977	1221	154602	rs116177548	0.0061	0.0061	0.0049	0.0073	0.0403	0.0060	0.0059	0.0392	0.0388	0.0010	0.0013	0.0061	0.0003	0.0030	0.0135	0.0040	0.0072	0.0403	0.0042	0.0043	0.0038	0.0047	0.0396	0.0040	0.0039	0.0350	0.0332	0.0009	0	0.0028	0.0063	0.0008	0.0039	0.0170	0.0043	0.0038	0.0396	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	.	.	.	.	0.998288	0.44722	D	4.53	0.99067	H	0.47	0.56114	T	-7.69	0.95603	D	0.109	0.09490	0.210	0.86076	D	0.416	0.76272	T	9	0.0071762204	0.00163	T	.	.	.	0.365	0.68495	.	.	0.612105117874	0.60898	0.40462831523539394	0.40378	.	.	0.502436220646	0.39167	T	0.168583	0.51564	T	-0.205426	0.20028	T	-0.0371565	0.67893	D	0.0867931227568148	0.10833	T	0.89531	0.63576	D	0.6614294	0.75975	0.67982537	0.81189	0.6614294	0.75976	0.67982537	0.81190	-12.058	0.85132	D	.	.	0.311	0.53838	B	.	.	3.332482	0.45886	22.2	0.99748695843572432	0.84077	0.94566	0.61582	D	AEFBI	0.362501	0.45174	N	0.709339028336467	0.80246	7.251683	0.535182317702874	0.70373	5.49572	0.999973434895134	0.50053	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.616125	0.45549	0	.	.	5.11	5.11	0.69188	2.517000	0.45189	.	.	0.599000	0.40250	0.824000	0.30046	0.964000	0.29435	0.076000	0.17014	0.1465:0.8535:0.0:0.0	14.595	0.67990	461	0.78683	Cadherin-like|Cadherin-like	.	.	.	.	.	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	0.013595	0.005051	0.010870	0.008772	0.000000	0.017241	0.024390	0.015152	0.07895	12840.8	414	chr5	141096081	.	C	A	12840.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.79;DP=2152;ExcessHet=0.3672;FS=1.104;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.2;MQRankSum=3.72;QD=12.1;ReadPosRankSum=0.645;SOR=0.616	GT:AD:DP:GQ:PL	0/1:218,178:396:99:4374,0,5502	16	0	3	0
chr5	141122851	141122851	G	C	exonic	PCDHB4	.	nonsynonymous SNV	PCDHB4:NM_018938:exon1:c.G853C:p.D285H	.	416	1054	51	1	0	53	0.0245257	.	.	.	698863	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.163	.	0.0037	0.00958466	0.0091	0.0003	0.0015	0.0003	0.0038	0.0050	0.0111	0.0425	0.0078524	1214	154602	rs149340599	0.0061	0.0061	0.0049	0.0073	0.0409	0.0060	0.0060	0.0398	0.0393	0.0010	0.0013	0.0061	0.0003	0.0030	0.0139	0.0040	0.0072	0.0409	0.0042	0.0042	0.0038	0.0047	0.0402	0.0040	0.0039	0.0356	0.0338	0.0009	0	0.0028	0.0063	0.0008	0.0038	0.0170	0.0043	0.0038	0.0402	0.002	0.72154	D	0.052	0.47581	T	0.592	0.39119	P	0.824	0.59271	P	.	.	.	.	0.995638	0.42782	D	0.975	0.24501	L	-0.19	0.65931	T	-2.03	0.46673	N	0.132	0.12770	-0.4390	0.70763	T	0.277	0.64896	T	9	0.0023590326	0.00035	T	.	.	.	0.163	0.42028	.	.	0.624762870363	0.62171	0.18137512757830604	0.18056	.	.	0.355227172375	0.18689	T	0.027262	0.20004	T	-0.419304	0.01728	T	-0.344377	0.39848	T	0.0769435884720714	0.09592	T	0.70183	0.31167	T	0.4089323	0.61346	0.5137543	0.71903	0.4089323	0.61346	0.5137543	0.71904	-6.845	0.52893	T	.	.	0.115	0.23113	B	.	.	3.029406	0.40572	21.2	0.99417549142401851	0.63597	0.69254	0.34115	D	AEFBI	0.313196	0.41842	N	0.117199949162578	0.47266	2.954661	0.076161419448437	0.43353	2.63879	0.461169955851713	0.20625	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	4.41	4.41	0.52588	0.765000	0.26211	.	.	0.590000	0.31872	0.000000	0.06391	0.931000	0.28545	0.993000	0.69303	0.0:0.0:1.0:0.0	17.554	0.87781	520	0.74355	Cadherin-like|Cadherin-like	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013092	0.005051	0.010870	0.008772	0.000000	0.017241	0.027439	0.015152	0.07895	3350.79	99	chr5	141122851	.	G	C	3350.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.065;DP=1516;ExcessHet=0.3672;FS=5.845;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=-0.865;SOR=0.597	GT:AD:DP:GQ:PL	0/1:44,37:81:99:941,0,1329	16	0	3	0
chr5	141173766	141173766	G	C	exonic	PCDHB7	.	nonsynonymous SNV	PCDHB7:NM_018940:exon1:c.G931C:p.A311P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0073481168098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.847e-07	1.163e-05	0	1.376e-06	9.001e-07	0	0	.	.	0	0	0	0	0	0	9.001e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.29823	T	0.088	0.40586	T	0.758	0.43456	P	0.516	0.48072	P	.	.	.	.	1	0.08975	N	1.905	0.50856	L	4.57	0.01917	T	-1.9	0.44284	N	0.19	0.20793	-0.9688	0.37448	T	0.012	0.04463	T	9	0.14442283	0.27407	T	0.007348	0.19496	T	0.054	0.15330	0.24	0.17218	0.297718772494	0.29385	0.23022774839758178	0.22937	0.259062600134	0.28458	0.285979688168	0.08340	T	0.007225	0.06645	T	-0.192082	0.21952	T	-0.513689	0.20937	T	0.239479869604111	0.22395	T	0.0113989	0.00062	T	0.14268309	0.32824	0.21860704	0.46570	0.14268309	0.32824	0.21860704	0.46569	-8.191	0.62365	D	.	.	0.557	0.67107	A	.	.	1.047924	0.14288	10.87	0.99254472283569606	0.56989	0.18010	0.20081	N	AEFDBI	0.376982	0.46093	N	-0.355294400045894	0.27079	1.482807	-0.435194067126652	0.23971	1.310156	0.0246842635642356	0.13596	0.554377	0.28877	0	0.573888	0.26702	0	0.578056	0.29568	0	0.567892	0.33627	0	.	.	4.61	2.79	0.31792	-0.037000	0.12116	.	.	-0.153000	0.12021	0.000000	0.06391	0.000000	0.08366	0.934000	0.47231	0.2524:0.0:0.5847:0.1629	4.291	0.10325	652	0.62785	Cadherin-like|Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	1117.17	226	chr5	141173766	.	G	C	1117.17	.	AC=6;AF=0.25;AN=24;BaseQRankSum=-5.191;DP=3406;ExcessHet=4.0268;FS=229.301;InbreedingCoeff=-0.4104;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=0.71;ReadPosRankSum=0.731;SOR=12.262	GT:AD:DP:GQ:PL	0/1:141,34:183:99:120,0,2961	6	0	6	7
chr5	141211069	141211069	C	G	exonic	PCDHB12	.	nonsynonymous SNV	PCDHB12:NM_018932:exon1:c.C2162G:p.P721R	.	372	1101	46	3	0	52	0.0230701	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	0.0038	0.0071885	0.0088	0.0005	0.0016	0.0004	0.0044	0.0057	0.0122	0.0369	0.0075872	1173	154602	rs150562956	0.0073	0.0073	0.0061	0.0084	0.0377	0.0071	0.0071	0.0366	0.0361	0.0009	0.0020	0.0033	0.0003	0.0040	0.0149	0.0058	0.0070	0.0377	0.0054	0.0054	0.0048	0.0060	0.0367	0.0051	0.0049	0.0323	0.0306	0.0009	0	0.0040	0.0032	0.0004	0.0047	0.0068	0.0069	0.0047	0.0367	0.004	0.65419	D	0.387	0.16280	T	0.061	0.23190	B	0.034	0.22546	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	0.85	0.47130	T	-0.21	0.10308	N	0.05	0.02179	-1.0327	0.19586	T	0.067	0.27640	T	9	0.0026969314	0.00042	T	.	.	.	0.029	0.06676	.	.	0.456275507713	0.45249	0.09963175427583046	0.09894	0.22973312364	0.25525	0.573936104774	0.49234	T	0.001056	0.00580	T	-0.60379	0.00138	T	-0.613619	0.11692	T	0.00680642899000506	0.00077	T	0.250275	0.12411	T	0.07188258	0.15949	0.06356104	0.12609	0.07188258	0.15948	0.06356104	0.12609	-4.549	0.32559	T	.	.	0.091	0.13032	B	.;.	.;.	1.141436	0.15289	11.74	0.86655142440817323	0.16682	0.05152	0.10965	N	AEFDBI	0.065858	0.12867	N	-0.900844477447111	0.10823	0.5191038	-0.962757534171288	0.10628	0.5365001	0.0019811220922222	0.09061	0.533608	0.22052	0	0.573888	0.26702	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	3.67	1.7	0.23359	0.519000	0.22570	.	.	0.328000	0.19510	0.003000	0.16062	0.000000	0.08366	0.001000	0.02609	0.2725:0.3123:0.4152:0.0	7.747	0.28043	692	0.58729	.;Cadherin, cytoplasmic C-terminal domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.005051	0.010870	0.005848	0.000000	0.017241	0.021341	0.007576	0.07895	5338.79	176	chr5	141211069	.	C	G	5338.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.184;DP=1296;ExcessHet=0.3672;FS=0.522;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=-0.988;SOR=0.735	GT:AD:DP:GQ:PL	0/1:100,82:184:99:1918,0,2393	16	0	3	0
chr5	141303079	141303079	C	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.G787C:p.V263L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00909780768334	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.611e-06	0.0012	9.648e-06	5.557e-06	9.117e-06	4.08e-06	2.99e-06	4.61e-06	3.36e-06	0	0	3.841e-05	0	0	0	9.117e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.865	0.02639	T	0.669	0.06325	T	0.0	0.02946	B	0.001	0.04355	B	0.940851	0.07593	N	1.028430	0.99999	0.08975	N	-1.395	0.00601	N	-1.1	0.77336	T	0.91	0.01595	N	0.015	0.00181	-1.0189	0.24074	T	0.099	0.36957	T	10	0.04655108	0.03861	T	0.009098	0.23941	T	0.146	0.38789	0.353	0.35246	0.307966526162	0.30417	0.15140888837097558	0.15062	0.179086514007	0.20148	0.295074403286	0.09668	T	0.158211	0.50113	T	-0.262078	0.12658	T	-0.614233	0.11644	T	0.0472256252312583	0.05005	T	0.090191	0.00668	T	0.05519885	0.10696	0.03909303	0.03923	0.05519885	0.10696	0.03909303	0.03923	-0.632	0.00670	T	.	.	0.081	0.08129	B	.	.	0.911050	0.12853	9.367	0.29972271365944797	0.01616	0.36561	0.25561	N	AEFDBI	0.079883	0.16143	N	-1.27563492994376	0.03971	0.1783734	-1.17336112797431	0.06358	0.3057852	0.0027045709993126	0.09647	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	-1.96	0.07113	0.290000	0.18731	.	.	-0.219000	0.08017	0.857000	0.30561	0.000000	0.08366	0.938000	0.47775	0.1892:0.2274:0.2747:0.3086	0.421	0.00425	508	0.75398	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.4706	14014.1	269	chr5	141303079	.	C	G	14014.1	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-5.32;DP=3969;ExcessHet=25.4433;FS=253.579;InbreedingCoeff=-0.8095;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=4.49;ReadPosRankSum=1.54;SOR=13.726	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:153,50:211:99:.:.:999,0,3836:.	1	0	16	2
chr5	141303081	141303081	A	G	exonic	SLC25A2	.	nonsynonymous SNV	SLC25A2:NM_031947:exon1:c.T785C:p.I262T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0473896448522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.057e-05	0.0052	9.083e-05	7.061e-05	9.408e-05	6.666e-05	6.17e-05	7.637e-05	7.056e-05	7.663e-05	2.352e-05	9.167e-05	0	0	0	9.408e-05	0.0001	3.753e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.012	0.63918	D	0.031	0.20130	B	0.072	0.28043	B	0.002026	0.37411	N	0.228449	0.664955	0.33087	D	2.495	0.72670	M	-1.43	0.80730	T	-3.37	0.66665	D	0.15	0.15328	-0.2969	0.75071	T	0.436	0.77580	T	10	0.32646608	0.49943	T	0.04739	0.62897	D	0.304	0.62510	0.714	0.84962	0.796736975761	0.79484	0.3777484127299112	0.37689	0.256540601776	0.28227	0.559880197048	0.47250	T	0.479583	0.80893	T	-0.0449841	0.45207	T	-0.302393	0.44473	T	0.91609662771225	0.57338	D	0.873613	0.58243	D	0.3416271	0.56408	0.3380717	0.59590	0.3416271	0.56408	0.3380717	0.59589	-5.782	0.44417	T	.	.	0.170	0.37388	B	.	.	3.362138	0.46425	22.3	0.97252123840185223	0.33047	0.90378	0.51506	D	AEFDBI	0.134760	0.25488	N	-0.253584900046592	0.30961	1.73137	-0.254588989580657	0.29613	1.660522	0.0034441891907943	0.10119	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	3.79	1.42	0.21524	2.856000	0.48040	.	.	0.751000	0.87719	0.966000	0.33990	0.265000	0.24010	0.967000	0.53440	0.789:0.0:0.211:0.0	6.656	0.22177	508	0.75398	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4737	19266.3	284	chr5	141303081	.	A	G	19266.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.62;DP=4066;ExcessHet=38.2876;FS=254.572;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=5.08;ReadPosRankSum=1.37;SOR=14.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:166,52:218:99:.:.:665,0,5635:.	1	0	18	0
chr5	141400463	141400463	A	G	exonic	PCDHGB5	.	nonsynonymous SNV	PCDHGB5:NM_018925:exon1:c.A2336G:p.D779G,PCDHGB5:NM_032099:exon1:c.A2336G:p.D779G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.065e-06	5.274e-05	1.371e-06	2.765e-06	2.718e-06	5.5e-07	1.5e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.718e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.44302	T	0.009	0.15093	B	0.029	0.21540	B	.	.	.	.	1	0.81001	D	1.51	0.38214	L	.	.	.	.	.	.	0.241	0.34659	.	.	.	.	.	.	.	0.20647642	0.36910	T	.	.	.	.	.	.	.	0.567858160113	0.56450	0.27775437007942005	0.27688	.	.	.	.	.	0.07356	0.34727	T	0.118978	0.66270	D	-0.0668731	0.65849	T	.	.	.	0.475152	0.14192	T	0.18996084	0.40560	0.40470845	0.64891	0.18996084	0.40560	0.40470845	0.64891	-4.16	0.26766	T	.	.	0.089	0.12323	B	.;.	.;.	3.615017	0.51130	23.0	0.70790902653605781	0.09412	0.84947	0.44044	D	AEFDBHCI	.	.	.	.	.	.	.	.	.	0.999600704005591	0.40866	0.090766	0.02384	0	0.097471	0.02872	0	0.129117	0.03641	0	0.023427	0.00073	3	0.343073	0.36021	5.25	5.25	0.73169	2.964000	0.48885	.	.	0.751000	0.87719	1.000000	0.71638	0.999000	0.35428	0.831000	0.39176	0.9146:0.0:0.0854:0.0	9.287	0.36925	809	0.43032	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	2841.21	42	chr5	141400463	.	A	G	2841.21	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-7.16;DP=3945;ExcessHet=8.9063;FS=248.932;InbreedingCoeff=-0.4075;MLEAC=11;MLEAF=0.289;MQ=59.99;MQRankSum=0;QD=0.91;ReadPosRankSum=0.68;SOR=13.863	GT:AD:DP:GQ:PL	0/1:202,62:264:99:167,0,4446	8	0	11	0
chr5	146171959	146171959	T	C	exonic	LARS1	.	nonsynonymous SNV	LARS1:NM_001317965:exon3:c.A83G:p.K28R,LARS1:NM_001317964:exon4:c.A245G:p.K82R,LARS1:NM_020117:exon4:c.A245G:p.K82R	.	437	1074	9	2	0	13	0.00601573	.	.	.	141780	not_provided|Infantile_liver_failure_syndrome_1|not_specified	MedGen:C3661900|MONDO:MONDO:0024568,MedGen:C3809522,OMIM:615438,Orphanet:370088|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.349	.	0.0037	0.00299521	0.0050	0.0012	0.0027	0.0001	0.0015	0.0055	0.0066	0.0111	0.0050517	781	154602	rs112954500	0.0057	0.0057	0.0055	0.0059	0.0103	0.0056	0.0056	0.0097	0.0095	0.0007	0.0031	0.0019	2.522e-05	0.0020	0.0061	0.0061	0.0060	0.0103	0.0038	0.0038	0.0041	0.0036	0.0075	0.0036	0.0035	0.0055	0.0053	0.0011	0	0.0033	0.0035	0	0.0025	0.0034	0.0060	0.0033	0.0075	0.175	0.22486	T	0.115	0.36901	T	0.004	0.12183	B	0.09	0.29851	B	0.000000	0.84330	D	0.045928	0.999934	0.81001	D	1.87	0.49600	L	-1.05	0.76690	T	-2.2	0.49519	N	0.582	0.72925	-0.3456	0.73681	T	0.322	0.69064	T	10	0.010404259	0.00232	T	.	.	.	0.349	0.67049	.	.	0.714101545948	0.71159	0.6134425457156343	0.61276	0.185243997901	0.20827	0.564296662807	0.47874	T	0.175937	0.52570	T	-0.369996	0.03594	T	-0.296431	0.45101	T	0.0155940450330543	0.00356	T	0.79572	0.43953	T	0.22997892	0.45745	0.19366084	0.42948	0.26109782	0.49167	0.18891732	0.42207	-9.095	0.68305	D	0.2299780390205727	0.31114	0.071	0.04889	B	.;.;.	.;.;.	3.251490	0.44425	21.9	0.99693564151083824	0.80112	0.98629	0.84891	D	AEFBI	0.457668	0.50901	N	0.21524862825499	0.51938	3.371338	0.32198833956274	0.56833	3.847441	0.999738692345606	0.42341	0.732398	0.92422	0	0.743671	0.97443	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.54	5.54	0.82907	4.678000	0.61331	7.691000	0.65788	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	15.680	0.77120	855	0.34697	Aminoacyl-tRNA synthetase, class Ia;.;Aminoacyl-tRNA synthetase, class Ia	.	.	.	.	.	Likely benign	0	0	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	0.004532	0.000000	0.004076	0.002924	0.000000	0.000000	0.018293	0.000000	0.02632	634.33	33	chr5	146171959	.	T	C	634.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.303;DP=656;ExcessHet=0;FS=2.386;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=0.347;SOR=0.4	GT:AD:DP:GQ:PL	0/1:27,26:53:99:648,0,693	18	0	1	0
chr5	149621740	149621740	G	A	exonic	ARHGEF37	.	nonsynonymous SNV	ARHGEF37:NM_001001669:exon9:c.G1013A:p.R338Q	.	419	1033	67	3	0	73	0.0341281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.287	.	0.0017	0.00239617	0.0035	0.0005	0.0013	0.0002	0.0002	0.0026	0.0035	0.0150	0.0030659	474	154602	rs139526604	0.0020	0.0020	0.0015	0.0025	0.0186	0.0019	0.0019	0.0158	0.0147	0.0004	0.0010	0.0044	0.0002	0.0002	0.0186	0.0011	0.0026	0.0137	0.0015	0.0015	0.0013	0.0018	0.0097	0.0014	0.0013	0.0075	0.0067	0.0003	0	0.0019	0.0038	0.0002	0.0004	0.0034	0.0018	0.0028	0.0097	0.028	0.46129	D	0.039	0.51112	D	0.867	0.47667	P	0.4	0.44481	B	0.000024	0.55875	N	0.111842	1	0.81001	D	2.36	0.67893	M	-0.06	0.63568	T	-2.91	0.60982	D	0.196	0.21580	-0.5533	0.66661	T	0.282	0.65359	T	10	0.008068293	0.00183	T	.	.	.	0.287	0.60574	.	.	0.275215494804	0.27121	0.5262534306056779	0.52549	0.307136892763	0.33015	0.341207176447	0.16619	T	0.057572	0.30604	T	-0.238972	0.15480	T	-0.105012	0.63007	T	0.0394868305183321	0.03597	T	0.805919	0.45429	T	0.30385897	0.53248	0.41543442	0.65658	0.30385897	0.53248	0.41543442	0.65658	-2.71	0.07387	T	.	.	0.08	0.07793	B	.	.	3.930896	0.57454	23.9	0.99923209850801342	0.98917	0.98856	0.87762	D	AEFBI	0.633477	0.61371	D	0.47385892718642	0.65568	4.838959	0.506868326422859	0.68453	5.22189	0.999999999995626	0.74766	0.372202	0.05800	0	0.547309	0.14657	0	0.547309	0.15389	0	0.491896	0.07777	0	.	.	6.17	5.31	0.75063	6.854000	0.75239	7.439000	0.58857	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0672:0.0:0.9328:0.0	15.280	0.73478	795	0.45444	BAR domain|BAR 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	0.015625	0.000000	0.008152	0.026316	0.000000	0.017241	0.018293	0.030303	0.1053	3729.43	42	chr5	149621740	.	G	A	3729.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=2.22;DP=873;ExcessHet=0.7564;FS=0;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.199;SOR=0.668	GT:AD:DP:GQ:PL	0/1:37,28:65:99:736,0,868	15	0	4	0
chr5	150167201	150167201	C	T	exonic	CDX1	.	nonsynonymous SNV	CDX1:NM_001804:exon1:c.C325T:p.P109S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.20966205449	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	3.42e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.901	0.02418	T	0.974	0.02459	T	0.149	0.27956	B	0.054	0.25828	B	0.002645	0.36173	U	0.226113	0.909549	0.36374	D	0.81	0.20779	L	1.06	0.39781	T	0.52	0.02853	N	0.094	0.07398	-1.0615	0.11385	T	0.055	0.23148	T	10	0.10266492	0.18830	T	0.209662	0.87211	D	0.041	0.10877	0.314	0.28935	0.258436476835	0.25460	0.5494430401508557	0.54870	1.18802059473	0.80198	0.847805976868	0.89283	D	0.057668	0.30631	T	-0.203403	0.20315	T	-0.529951	0.19292	T	0.697085082530975	0.40580	D	0.30237	0.05722	T	0.03396589	0.03719	0.07668303	0.17008	0.03396589	0.03719	0.07668303	0.17008	-5.523	0.42082	T	.	.	0.074	0.04975	B	.	.	3.153783	0.42703	21.6	0.99191220138559255	0.54994	0.75018	0.36714	D	AEFDBI	0.211836	0.33759	N	-0.497057728662331	0.22176	1.18233	-0.364266902732081	0.26071	1.43772	0.999999435301337	0.74766	0.59774	0.34471	0	0.59043	0.45803	0	0.608004	0.38603	0	0.63947	0.58350	0	.	.	3.54	3.54	0.39650	3.038000	0.49473	2.144000	0.30864	0.458000	0.21545	1.000000	0.71638	0.993000	0.31925	0.813000	0.38311	0.0:0.8848:0.0:0.1152	9.696	0.39324	657	0.62240	Caudal-like activation 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	.	.	.	.	.	.	.	.	0.02632	619.33	13	chr5	150167201	.	C	T	619.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.775;DP=464;ExcessHet=0;FS=3.329;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.77;ReadPosRankSum=1.19;SOR=0.581	GT:AD:DP:GQ:PL	0/1:11,22:33:99:633,0,251	18	0	1	0
chr5	150368786	150368786	A	G	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon5:c.A449G:p.N150S,TCOF1:NM_001008657:exon5:c.A449G:p.N150S,TCOF1:NM_001135243:exon5:c.A449G:p.N150S,TCOF1:NM_001135244:exon5:c.A449G:p.N150S,TCOF1:NM_001135245:exon5:c.A449G:p.N150S,TCOF1:NM_001195141:exon5:c.A449G:p.N150S,TCOF1:NM_001371623:exon5:c.A449G:p.N150S	Treacher Collins syndrome 1, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	521403	Inborn_genetic_diseases|Treacher_Collins_syndrome_1|TCOF1-related_disorder	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861|.	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.074	0.0139715005022	7.7e-05	.	4.963e-05	0	0.0002	0	0	0	0	0.0002	5.82e-05	9	154602	rs141805606	3.557e-05	3.557e-05	3.267e-05	3.851e-05	0.0002	2.762e-05	2.501e-05	8.885e-05	7.053e-05	0	0.0001	0	2.519e-05	1.876e-05	0	2.428e-05	6.623e-05	0.0002	1.97e-05	1.969e-05	1.285e-05	2.685e-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	0.038	0.53172	D	0.49	0.24840	T	0.043	0.23997	B	0.014	0.21939	B	0.080933	0.20895	N	0.349077	1	0.08975	N	0	0.06538	N	-0.77	0.73739	T	-1.92	0.45222	N	0.207	0.29081	-0.9425	0.42218	T	0.162	0.49715	T	10	0.085684	0.14489	T	0.013972	0.33765	T	0.074	0.21613	.	.	0.333326979144	0.32939	0.0660408273163782	0.06543	0.0641732032036	0.07151	0.244308650494	0.03192	T	0.160811	0.50480	T	-0.414984	0.01842	T	-0.541723	0.18128	T	0.0308077155491525	0.02115	T	0.89721	0.66542	D	0.042799138	0.06557	0.05996803	0.11343	0.042799138	0.06556	0.05996803	0.11342	-1.984	0.03151	T	0.1368363125262857	0.15000	0.076	0.12560	B	.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.	1.665280	0.21236	15.11	0.64659046074297755	0.07555	0.68560	0.33848	D	ALL	0.053082	0.09533	N	-0.776680014300228	0.13920	0.6893033	-0.736079576396302	0.16066	0.8481003	0.999837248686893	0.43792	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	3.43	2.23	0.27189	1.844000	0.38910	3.042000	0.36085	0.756000	0.94297	0.912000	0.31733	0.960000	0.29291	0.139000	0.19909	0.7584:0.2416:0.0:0.0	6.753	0.22686	846	0.36215	.;.;.;.;.;Treacle protein 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	.	.	.	.	.	.	.	.	0.02632	1273.33	39	chr5	150368786	.	A	G	1273.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.304;DP=730;ExcessHet=0;FS=0.774;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-1.339;SOR=0.818	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1287,0,1126	18	0	1	0
chr5	150375799	150375799	G	A	exonic	TCOF1	.	nonsynonymous SNV	TCOF1:NM_000356:exon11:c.G1552A:p.V518I,TCOF1:NM_001135245:exon11:c.G1552A:p.V518I,TCOF1:NM_001008657:exon12:c.G1783A:p.V595I,TCOF1:NM_001135243:exon12:c.G1783A:p.V595I,TCOF1:NM_001135244:exon12:c.G1783A:p.V595I,TCOF1:NM_001195141:exon12:c.G1783A:p.V595I,TCOF1:NM_001371623:exon12:c.G1783A:p.V595I	Treacher Collins syndrome 1, Autosomal dominant	0	1517	5	0	0	5	0.00164528	.	.	.	296447	not_specified|not_provided|Treacher_Collins_syndrome_1	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0007944,MedGen:CN315775,OMIM:154500,Orphanet:861	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.136	.	0.0089	0.00239617	0.0077	0.0026	0.0029	0	0.0151	0.0112	0.0066	0.0012	0.0074579	1153	154602	rs75583421	0.0097	0.0097	0.0099	0.0096	0.0112	0.0096	0.0095	0.0111	0.0110	0.0013	0.0032	0.0094	0	0.0135	0.0005	0.0112	0.0081	0.0012	0.0078	0.0078	0.0076	0.0081	0.0111	0.0075	0.0073	0.0105	0.0102	0.0021	0	0.0072	0.0110	0	0.0166	0	0.0111	0.0085	0.0019	0.016	0.59928	D	0.162	0.42976	T	0.951	0.53992	P	0.76	0.56425	P	0.037673	0.01837	N	2.502770	1	0.08975	N	1.965	0.53209	M	-0.25	0.67011	T	-0.77	0.22508	N	0.113	0.14338	-0.8797	0.49786	T	0.249	0.61878	T	10	0.005758971	0.00128	T	.	.	.	0.136	0.36778	.	.	0.429154209284	0.42533	0.04733251895107793	0.04676	0.383352055737	0.39662	0.288181900978	0.08658	T	0.112068	0.42806	T	-0.441999	0.01258	T	-0.398283	0.33583	T	0.0196816857140967	0.00671	T	0.865313	0.59601	D	0.06207229	0.12925	0.046122603	0.06359	0.06864404	0.14973	0.054041408	0.09218	-4.972	0.39346	T	0.2441572400353352	0.33071	0.108	0.25429	B	.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.	1.222183	0.16164	12.36	0.99650463649884968	0.77254	0.17462	0.19848	N	AEFDBCI	0.056888	0.10553	N	-0.574713573974623	0.19715	1.03399	-0.663322229630827	0.17881	0.9527643	0.956405225962285	0.28245	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.16	1.02	0.19102	0.390000	0.20494	0.054000	0.14040	0.618000	0.50648	0.005000	0.17040	0.000000	0.08366	0.337000	0.25363	0.1128:0.1975:0.4867:0.203	2.166	0.03603	851	0.35303	.;Treacle protein domain;.;.;.;Treacle protein domain;.;.;.;.;Treacle protein domain;Treacle protein domain	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.004028	0.005051	0.005435	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	909.33	36	chr5	150375799	.	G	A	909.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.583;DP=827;ExcessHet=0;FS=1.724;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.1;ReadPosRankSum=0.677;SOR=0.748	GT:AD:DP:GQ:PL	0/1:49,41:90:99:923,0,1178	18	0	1	0
chr5	154834880	154834880	G	C	exonic	FAXDC2	.	nonsynonymous SNV	FAXDC2:NM_032385:exon3:c.C103G:p.L35V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.128	0.0225774624919	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.51e-05	8.073e-05	1.775e-05	1.243e-05	5.991e-05	9.89e-06	8.44e-06	1.015e-05	8.37e-06	5.991e-05	0	0	0	0	0	1.624e-05	3.321e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.234	0.22660	T	0.192	0.28300	T	0.741	0.42992	P	0.178	0.35748	B	0.000062	0.52346	D	0.127254	0.999577	0.47641	D	2.33	0.66821	M	0.11	0.61208	T	-1.43	0.42575	N	0.476	0.55280	-0.7898	0.55741	T	0.177	0.52272	T	10	0.3608216	0.52717	T	0.022577	0.45482	T	0.128	0.35103	0.368	0.37687	0.50685403127	0.50322	0.5472392752767269	0.54649	0.565306047963	0.52874	0.427203059196	0.28826	T	0.006447	0.05881	T	-0.0350922	0.46673	T	-0.288184	0.45962	T	0.975553870201111	0.70985	D	0.824718	0.55237	T	0.1653164	0.36795	0.16677296	0.38511	0.1653164	0.36795	0.16677296	0.38510	-4.327	0.28554	T	.	.	0.122	0.45149	B	.;.;.;.;.	.;.;.;.;.	3.205176	0.43602	21.8	0.99783212881991934	0.86955	0.93639	0.58770	D	AEFDGBHCI	0.839166	0.75660	D	0.282525933287588	0.55260	3.690427	0.346314316601126	0.58285	3.998306	0.999999999999752	0.74766	0.536635	0.22144	0	0.546412	0.12157	0	0.489635	0.07774	0	0.322989	0.05693	1	.	.	6.04	5.18	0.71140	4.974000	0.63486	8.428000	0.77165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.933000	0.47100	0.0681:0.0:0.9319:0.0	15.162	0.72472	879	0.29470	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2926.77	122	chr5	154834880	.	G	C	2926.77	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-3.509;DP=2450;ExcessHet=17.0548;FS=265.035;InbreedingCoeff=-0.631;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=1.04;SOR=12.969	GT:AD:DP:GQ:PL	0/1:102,39:150:99:230,0,2125	4	0	14	1
chr5	157052557	157052557	C	0	exonic	HAVCR1	.	.	.	.	1	2	91	30	102	253	0.974194	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	128065.0	769	chr5	157052557	.	C	*	128065.0	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0.778;DP=10426;ExcessHet=0.1504;FS=0;InbreedingCoeff=0.0434;MLEAC=21;MLEAF=0.583;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=-0.521;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,268:550:99:.:.:24169,11551,10643:.	5	7	6	1
chr5	159161427	159161427	T	C	exonic	RNF145	.	nonsynonymous SNV	RNF145:NM_001199380:exon10:c.A1555G:p.I519V,RNF145:NM_001199381:exon10:c.A1516G:p.I506V,RNF145:NM_001199382:exon10:c.A1507G:p.I503V,RNF145:NM_001199383:exon10:c.A1465G:p.I489V,RNF145:NM_144726:exon10:c.A1549G:p.I517V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.348	0.0321084093921	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.689	0.53172	T	1.0	0.01155	T	0.069	0.26116	B	0.057	0.30390	B	0.000000	0.84330	D	0.000000	1	0.81001	D	-0.6	0.02229	N	-1.04	0.78427	T	-0.02	0.19085	N	0.487	0.54671	-0.7862	0.55950	T	0.155	0.48687	T	10	0.22028938	0.38722	T	0.032108	0.54021	D	0.348	0.66956	0.381	0.39807	0.848737276254	0.84728	0.5429635205572487	0.54221	1.5713921237	0.88187	0.809239268303	0.83376	D	0.025021	0.18789	T	0.0879092	0.62953	D	-0.111501	0.62491	T	0.599808037281036	0.36392	D	0.910909	0.68443	D	0.08185151	0.18826	0.14571664	0.34550	0.08185151	0.18826	0.14571664	0.34549	-4.068	0.29557	T	.	.	0.428	0.63300	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.659358	0.34646	19.68	0.97983499804003948	0.37341	0.94498	0.61359	D	AEFDBHCI	0.933662	0.92588	D	-0.253708838070544	0.30955	1.731042	0.0519839670437108	0.42167	2.54587	0.999999999999995	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.693117	0.63056	0	0.714379	0.83352	0	.	.	5.78	5.78	0.91418	7.908000	0.86831	7.797000	0.69042	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	16.109	0.81055	893	0.26510	.;TRC8 N-terminal domain;TRC8 N-terminal domain;TRC8 N-terminal domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	104.67	91	chr5	159161427	.	T	C	104.67	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-2.939;DP=1225;ExcessHet=0.3672;FS=123.785;InbreedingCoeff=-0.0973;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.35;ReadPosRankSum=1.61;SOR=9.022	GT:AD:DP:GQ:PL	0/1:94,25:119:65:65,0,1919	15	0	3	1
chr5	177332169	177332169	C	T	exonic	LMAN2	.	nonsynonymous SNV	LMAN2:NM_006816:exon8:c.G988A:p.A330T	.	426	1086	10	0	0	10	0.00458295	.	.	.	721395	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.100	0.017381909764	0.0066	0.00319489	0.0055	0.0004	0.0016	0	0.0030	0.0081	0.0048	0.0051	0.0056274	870	154602	rs150674852	0.0071	0.0071	0.0071	0.0071	0.0080	0.0070	0.0069	0.0078	0.0078	0.0012	0.0020	0.0123	2.519e-05	0.0032	0.0057	0.0080	0.0067	0.0054	0.0054	0.0054	0.0060	0.0046	0.0082	0.0051	0.0049	0.0076	0.0074	0.0014	0.0614	0.0029	0.0115	0	0.0021	0.0068	0.0082	0.0061	0.0050	0.395	0.10659	T	0.73	0.05165	T	0.313	0.32852	B	0.019	0.18783	B	0.000002	0.62929	D	0.056604	0.999778	0.81001	D	1.185	0.30054	L	-0.07	0.63738	T	-0.87	0.23590	N	0.482	0.51672	-0.9177	0.45864	T	0.127	0.43360	T	10	0.0093584955	0.00211	T	0.017382	0.39055	T	0.100	0.28662	.	.	0.623404466153	0.62034	0.5442323423595946	0.54349	0.439953692951	0.44012	0.790500640869	0.80519	T	0.082949	0.36945	T	-0.362589	0.03985	T	-0.284216	0.46370	T	0.0076413674045253	0.00089	T	0.913209	0.69058	D	0.07518554	0.16922	0.112450674	0.27132	0.07518554	0.16921	0.112450674	0.27131	-4.055	0.24624	T	.	.	0.179	0.39081	B	.	.	4.257340	0.64674	24.7	0.99665045043375566	0.78202	0.94008	0.59836	D	AEFDBI	0.446123	0.50232	N	0.00288589649692123	0.41987	2.521	0.124096177169886	0.45785	2.835501	0.99998539257677	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.26	4.33	0.51083	3.146000	0.50327	5.812000	0.50015	0.599000	0.40250	0.996000	0.39380	1.000000	0.68203	0.886000	0.42526	0.2638:0.7362:0.0:0.0	13.182	0.59082	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003532	0.000000	0.002717	0.002924	0.000000	0.008621	0.006135	0.007576	0.05263	1654.83	38	chr5	177332169	.	C	T	1654.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.855;DP=782;ExcessHet=0.119;FS=2.879;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.03;ReadPosRankSum=0.753;SOR=0.939	GT:AD:DP:GQ:PL	0/1:45,38:83:99:944,0,1060	17	0	2	0
chr5	177503142	177503142	C	G	exonic	DOK3	.	nonsynonymous SNV	DOK3:NM_001144876:exon5:c.G590C:p.S197T,DOK3:NM_001144875:exon6:c.G896C:p.S299T,DOK3:NM_001375798:exon6:c.G896C:p.S299T,DOK3:NM_001375799:exon7:c.G896C:p.S299T	.	426	1092	4	0	0	4	0.00182815	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	0.00656367016175	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1429759419	1.429e-06	1.368e-06	0	2.898e-06	0.0004	2.4e-07	9e-08	6.163e-05	2.548e-05	0	0	0	0	0	0.0004	0	0	0	6.756e-06	6.578e-06	0	1.389e-05	1.496e-05	0	0	.	.	0	0	0	0	0	0	0	1.496e-05	0	0	0.0	0.91255	D	0.09	0.40267	T	0.137	0.27402	B	0.023	0.19966	B	.	.	.	.	1	0.08975	N	.	.	.	0.7	0.52642	T	-0.6	0.22508	N	0.102	0.08506	-1.0504	0.14285	T	0.052	0.22269	T	9	0.056775093	0.06417	T	0.006564	0.17301	T	0.042	0.11227	0.078	0.00601	0.166414681773	0.16258	.	.	.	.	.	.	.	.	.	.	-0.294136	0.09225	T	-0.660282	0.08247	T	0.0984869624614762	0.12189	T	0.294271	0.05429	T	.	.	.	.	.	.	.	.	-3.868	0.21824	T	.	.	0.089	0.15430	B	.;.	.;.	-0.057389	0.03902	0.858	0.95540207027966828	0.27187	0.06904	0.12930	N	AEFDBHCI	0.038137	0.05353	N	-1.07303256522155	0.07144	0.3309701	-1.15179540852759	0.06735	0.3252288	0.999998833144888	0.74766	0.646311	0.45356	0	0.685571	0.66316	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	1.53	0.621	0.16817	-0.067000	0.11538	-0.331000	0.09890	0.469000	0.21855	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.759:0.0:0.241	3.861	0.08505	900	0.24599	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	999.33	39	chr5	177503142	.	C	G	999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.736;DP=1371;ExcessHet=0;FS=0.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.69;ReadPosRankSum=-0.631;SOR=0.523	GT:AD:DP:GQ:PL	0/1:34,39:73:99:1013,0,946	18	0	1	0
chr5	178991554	178991554	C	A	exonic	GRM6	.	nonsynonymous SNV	GRM6:NM_000843:exon4:c.G727T:p.V243F	Night blindness, congenital stationary (complete), 1B, autosomal recessive, Autosomal recessive	0	1455	66	1	0	68	0.0228341	.	.	YES	105546	GRM6-related_disorder|not_provided|not_specified|Congenital_stationary_night_blindness_1B	.|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0009758,MedGen:C1850362,OMIM:257270,Orphanet:215	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.604	.	0.0019	0.00319489	0.0046	0.0004	0.0014	0	0.0003	0.0048	0.0067	0.0129	0.0042173	652	154602	rs17078894	0.0038	0.0038	0.0033	0.0042	0.0144	0.0037	0.0036	0.0128	0.0125	0.0003	0.0017	0.0377	2.52e-05	0.0004	0.0144	0.0025	0.0056	0.0134	0.0032	0.0032	0.0030	0.0033	0.0145	0.0029	0.0028	0.0118	0.0108	0.0006	0	0.0028	0.0421	0.0002	0	0.0068	0.0027	0.0052	0.0145	0.001	0.78490	D	0.004	0.74150	D	0.979	0.59044	D	0.883	0.62698	P	.	.	.	.	0.995925	0.42925	D	2.395	0.69210	M	-2.23	0.87116	D	-3.64	0.69835	D	0.771	0.87590	0.649	0.92536	D	0.767	0.92072	D	9	0.015617073	0.00328	T	.	.	.	0.604	0.84398	.	.	0.881730640562	0.88057	0.5530409845540497	0.55230	0.450566886049	0.44827	0.481126189232	0.36211	T	0.642794	0.89066	D	-0.126361	0.32085	T	0.0567458	0.74028	D	0.0345301796586626	0.02728	T	0.963604	0.86445	D	0.61503285	0.73498	0.63056123	0.78449	0.62473875	0.74018	0.6487359	0.79454	-14.153	0.93543	D	0.4373697868778072	0.52348	0.356	0.56952	A	.;.;.	.;.;.	4.541005	0.71374	25.7	0.99638721072216774	0.76510	0.90557	0.51832	D	AEFDBI	0.365301	0.45352	N	0.572894785320832	0.71485	5.658235	0.5271236060106	0.69822	5.415446	0.278587631831547	0.18964	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.562822	0.20929	0	.	.	5.16	5.16	0.70563	0.841000	0.27267	2.789000	0.34784	0.599000	0.40250	0.283000	0.25169	0.988000	0.31051	0.992000	0.67800	0.0:1.0:0.0:0.0	16.538	0.84224	691	0.58815	Receptor, ligand binding region;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	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	0.007553	0.005051	0.004076	0.000000	0.050000	0.025862	0.012195	0.015152	0.02632	1326.33	34	chr5	178991554	.	C	A	1326.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.086;DP=759;ExcessHet=0;FS=0.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.17;ReadPosRankSum=-0.14;SOR=0.775	GT:AD:DP:GQ:PL	0/1:51,58:109:99:1340,0,1119	18	0	1	0
chr5	179651890	179651890	T	C	exonic	C5orf60	.	nonsynonymous SNV	C5orf60:NM_001142306:exon4:c.T659C:p.L220P,C5orf60:NM_001305388:exon4:c.T659C:p.L220P	.	429	1084	4	0	5	9	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	.	.	.	0.0035	0.0166	0.0117	0.0032	0	0.0016	0	0.0025	0.0001035	16	154602	rs567530098	0.0011	0.0017	0.0010	0.0011	0.0094	0.0010	0.0010	0.0085	0.0082	0.0094	0.0014	0.0002	0.0018	6.221e-05	0.0016	0.0007	0.0022	0.0022	0.0063	0.0065	0.0064	0.0062	0.0179	0.0060	0.0058	0.0168	0.0164	0.0179	0	0.0030	0	0.0043	0	0	0.0018	0.0043	0.0017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	184.71	35	chr5	179651890	.	T	C	184.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.197;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=48.93;MQRankSum=1.1;QD=5.13;ReadPosRankSum=0.979;SOR=0.634	GT:AD:DP:GQ:PL	0/1:25,11:36:99:198,0,668	17	0	1	1
chr6	7405275	7405275	G	A	exonic	RIOK1	.	nonsynonymous SNV	RIOK1:NM_001348194:exon12:c.G811A:p.V271I,RIOK1:NM_031480:exon12:c.G1123A:p.V375I	.	425	1094	3	0	0	3	0.00136924	.	.	.	3409317	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.071	0.0144562593385	0.0055	0.00279553	0.0045	0.0019	0.0046	0	0.0035	0.0066	0.0011	0.0008	0.0046765	723	154602	rs56067778	0.0062	0.0062	0.0064	0.0059	0.0072	0.0061	0.0060	0.0071	0.0070	0.0013	0.0050	0.0068	0	0.0029	0.0026	0.0072	0.0050	0.0009	0.0044	0.0044	0.0047	0.0041	0.0070	0.0041	0.0040	0.0065	0.0063	0.0015	0	0.0056	0.0035	0	0.0019	0.0034	0.0070	0.0047	0.0008	0.036	0.43393	D	0.094	0.39645	T	0.767	0.43786	P	0.549	0.49194	P	0.000015	0.62929	N	0.113199	1	0.81001	D	1.255	0.31814	L	3.32	0.06214	T	-0.97	0.25770	N	0.282	0.31925	-0.9263	0.44673	T	0.013	0.05129	T	10	0.010382742	0.00231	T	0.014456	0.34591	T	0.071	0.20720	.	.	0.36453787251	0.36064	0.4071093323463725	0.40626	0.204602031451	0.22881	0.373666852713	0.21357	T	0.009266	0.08447	T	-0.517773	0.00453	T	-0.509699	0.21346	T	0.0348122710622711	0.02776	T	0.861414	0.55526	D	0.2554301	0.48577	0.1448719	0.34379	0.2554301	0.48577	0.1448719	0.34378	-8.541	0.64700	D	.	.	0.125	0.26388	B	.	.	4.211540	0.63633	24.6	0.99646313535507269	0.77005	0.99075	0.90859	D	AEFDBI	0.761235	0.69901	D	0.263892365592409	0.54329	3.598792	0.286121978011405	0.54728	3.636977	0.999966677685168	0.48965	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.37	4.5	0.54382	7.387000	0.79051	9.758000	0.81499	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.889000	0.42754	0.0771:0.0:0.9229:0.0	13.123	0.58752	663	0.61610	RIO kinase	.	.	.	.	.	Likely benign	0	0	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	0.001511	0.005051	0.000000	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	805.33	36	chr6	7405275	.	G	A	805.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.483;DP=695;ExcessHet=0;FS=1.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.89;ReadPosRankSum=-0.411;SOR=0.685	GT:AD:DP:GQ:PL	0/1:24,34:58:99:819,0,584	18	0	1	0
chr6	7910699	7910701	CAG	-	exonic	TXNDC5	.	nonframeshift deletion	TXNDC5:NM_030810:exon1:c.76_78del:p.L26del	.	407	1088	27	0	0	27	0.012256	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0212	0.0172	0	.	.	0	0	0.0417	6.5e-06	1	154602	rs775841007	0.0006	0.0059	0.0005	0.0008	0.0063	0.0006	0.0006	0.0044	0.0038	0.0007	0.0063	0.0012	0.0022	0.0033	0.0014	0.0005	0.0008	0.0023	2.708e-05	0.0002	2.641e-05	2.778e-05	6.034e-05	8.33e-06	5.27e-06	2.008e-05	1.148e-05	0	0	0	0	0	0	0	6.034e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056485	0.059322	0.000000	0.051724	0.100000	0.000000	0.057692	0.057692	0.05263	30.46	20	chr6	7910698	.	CCAG	C	30.46	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.53;DP=414;ExcessHet=0.119;FS=2.639;InbreedingCoeff=-0.0604;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.79;ReadPosRankSum=1.27;SOR=1.561	GT:AD:DP:GQ:PL	0/1:15,2:17:39:39,0,624	17	0	2	0
chr6	16143815	16143815	C	T	exonic	MYLIP	.	nonsynonymous SNV	MYLIP:NM_013262:exon5:c.C779T:p.A260V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.440	0.0735088454345	.	0.000199681	2.472e-05	9.619e-05	0	0	0	2.998e-05	0	0	2.59e-05	4	154602	rs201781624	4.105e-06	4.104e-06	5.445e-06	2.75e-06	1.159e-05	1.48e-06	9.7e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.597e-06	1.656e-05	1.159e-05	1.321e-05	1.314e-05	0	2.707e-05	2.428e-05	2.2e-06	8.2e-07	.	.	2.428e-05	0	0	0	0	0	0	1.472e-05	0	0	0.11	0.30800	T	0.22	0.30631	T	0.999	0.77913	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.65	0.82625	D	-1.27	0.31981	N	0.863	0.85979	0.321	0.87897	D	0.654	0.87973	D	10	0.6978902	0.72259	D	0.073509	0.71808	D	0.440	0.74377	.	.	0.917068779723	0.91623	0.763102016952529	0.76258	0.511467238456	0.49222	0.773297011852	0.77917	T	0.41979	0.77170	T	0.248159	0.78429	D	0.300214	0.88207	D	0.83887106180191	0.49235	D	0.957071	0.83814	D	0.47494727	0.65593	0.24573329	0.50067	0.47494727	0.65594	0.24573329	0.50066	-8.716	0.65850	D	.	.	0.807	0.77612	P	.;.	.;.	4.532108	0.71161	25.6	0.99750599825124475	0.84228	0.97483	0.75040	D	AEFBCI	0.865559	0.78468	D	0.71164414811917	0.80397	7.284899	0.680977355404621	0.80937	7.411034	0.999999999999992	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.3	5.3	0.74745	7.551000	0.81129	7.711000	0.66806	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.816000	0.38450	0.0:1.0:0.0:0.0	18.964	0.92665	786	0.46839	FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain;FERM, C-terminal PH-like domain|FERM domain|FERM, C-terminal PH-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1302.33	33	chr6	16143815	.	C	T	1302.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.882;DP=824;ExcessHet=0;FS=4.651;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.32;ReadPosRankSum=-2.258;SOR=0.383	GT:AD:DP:GQ:PL	0/1:58,57:115:99:1316,0,1378	18	0	1	0
chr6	17632846	17632846	-	AAAA	splicing	NUP153	NM_001278210:exon16:c.2339-2->TTTT;NM_001278209:exon18:c.2558-2->TTTT;NM_005124:exon17:c.2465-2->TTTT	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0043	0.0060	0.0043	0.0007	0.0067	0.0044	0.0031	0.0023	0.0024579	380	154602	rs36027788	0.0050	0.0080	0.0050	0.0050	0.0080	0.0049	0.0049	0.0068	0.0063	0.0040	0.0080	0.0047	0.0018	0.0078	0.0036	0.0050	0.0048	0.0057	0.0001	0.0004	0.0001	8.939e-05	0.0002	6.416e-05	5.108e-05	0.0001	7.217e-05	0.0002	0	0	0	0	0.0002	0	5.248e-05	0.0012	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	688.86	7	chr6	17632846	.	T	TAAAA	688.86	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.135;DP=375;ExcessHet=15.1749;FS=13.963;InbreedingCoeff=-0.5299;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=4.36;ReadPosRankSum=0.272;SOR=1.899	GT:AD:DP:GQ:PL	0/1:1,3:4:33:72,0,33	16	0	1	2
chr6	24145554	24145554	C	T	exonic	NRSN1	.	nonsynonymous SNV	NRSN1:NM_080723:exon4:c.C196T:p.L66F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	0.0253960966298	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.63226	D	0.013	0.63109	D	1.0	0.90584	D	0.989	0.78396	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	2.69	0.78713	M	2.04	0.39401	T	-1.57	0.50175	N	0.716	0.72120	-0.9366	0.43149	T	0.125	0.43008	T	10	0.44065765	0.58079	T	0.025396	0.48370	D	0.220	0.51569	0.202	0.11659	0.625481101073	0.62243	0.6214858075856532	0.62081	1.05154938784	0.76170	0.661980450153	0.61693	T	0.106732	0.41833	T	0.0952099	0.63771	D	-0.101014	0.63320	T	0.97040581703186	0.68937	D	0.857914	0.54791	D	0.46572846	0.65027	0.39292505	0.64025	0.46572846	0.65028	0.39292505	0.64025	-5.631	0.43075	T	.	.	0.162	0.37159	B	.;.;.	.;.;.	4.745988	0.76591	26.5	0.99895236271233467	0.96819	0.96227	0.68120	D	AEFBCI	0.831099	0.74969	D	0.760478614766467	0.83585	8.056313	0.721496033539898	0.84012	8.174695	0.999999999663906	0.74766	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.46	5.46	0.80021	5.804000	0.68800	7.707000	0.66598	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.973000	0.55318	0.0:1.0:0.0:0.0	19.326	0.94248	842	0.36989	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3158	1943.2	34	chr6	24145554	.	C	T	1943.2	.	AC=12;AF=0.316;AN=38;BaseQRankSum=-1.544;DP=1290;ExcessHet=11.1788;FS=190.289;InbreedingCoeff=-0.4869;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=2.69;ReadPosRankSum=-0.194;SOR=11.772	GT:AD:DP:GQ:PL	0/1:34,19:67:99:423,0,448	7	0	12	0
chr6	24449830	24449830	C	T	exonic	GPLD1	.	nonsynonymous SNV	GPLD1:NM_001503:exon15:c.G1405A:p.V469M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.649	0.104604768328	.	0.000399361	7.443e-05	0.0002	0	0	0	0.0001	0	0	8.41e-05	13	154602	rs142854013	9.784e-05	9.782e-05	0.0001	9.489e-05	0.0003	8.445e-05	7.922e-05	6.322e-05	5.825e-05	5.974e-05	4.473e-05	0.0015	5.039e-05	0	0.0003	7.645e-05	0.0002	0	6.568e-05	6.562e-05	5.14e-05	8.06e-05	0.0002	3.515e-05	2.615e-05	2.26e-05	9.07e-06	4.813e-05	0	0.0001	0.0006	0.0002	0	0	2.94e-05	0.0005	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	0.991	0.79672	D	0.000656	0.42656	D	0.098975	0.928214	0.36888	D	3.545	0.93219	H	-0.82	0.74053	T	-2.4	0.52776	N	0.639	0.65159	0.628	0.92270	D	0.682	0.89014	D	10	0.33045512	0.50283	T	0.104605	0.77927	D	0.649	0.86736	.	.	0.831590232921	0.82998	0.6765934112816115	0.67598	0.454322023127	0.45126	0.529373943806	0.42946	T	0.586482	0.86538	D	0.0620918	0.59875	T	0.0430967	0.73130	D	0.590603709220886	0.36030	D	0.940639	0.77718	D	0.52934384	0.68793	0.55822855	0.74444	0.52934384	0.68794	0.55822855	0.74444	-11.191	0.80695	D	.	.	0.340	0.55883	B	.	.	5.218045	0.87575	29.3	0.99906851052549028	0.97726	0.82323	0.41568	D	AEFBI	0.249550	0.36976	N	0.874268062007635	0.90444	10.40643	0.761049614675156	0.86981	9.066697	0.0271670618771353	0.13757	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.35	5.35	0.76297	2.895000	0.48347	5.826000	0.50123	0.547000	0.25779	0.990000	0.36992	1.000000	0.68203	0.864000	0.41028	0.0:0.922:0.0:0.078	13.400	0.60323	749	0.51929	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1447.33	34	chr6	24449830	.	C	T	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.191;DP=727;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=1.33;SOR=0.666	GT:AD:DP:GQ:PL	0/1:52,64:116:99:1461,0,1079	18	0	1	0
chr6	24797645	24797645	T	C	exonic	ARMH2	.	nonsynonymous SNV	ARMH2:NM_001282492:exon2:c.A458G:p.E153G	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00643654671084	.	.	0.0004	0	0	0	.	0.0004	0	0.0004	2.59e-05	4	154602	rs754369554	0.0001	0.0001	9.705e-05	0.0001	0.0014	0.0001	0.0001	0.0007	0.0005	0.0002	0.0004	0.0004	2.799e-05	0	0.0014	8.529e-05	0.0002	0.0003	0.0002	0.0002	0.0002	0.0003	0.0016	0.0002	0.0001	0.0011	0.0009	2.405e-05	0	0.0016	0.0006	0	0	0.0034	7.351e-05	0	0.0004	0.03	0.45393	D	0.023	0.57104	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.68	0.51952	T	-5.36	0.84811	D	0.11	0.09631	.	.	.	.	.	.	.	0.06699014	0.09269	T	0.006437	0.16956	T	.	.	.	.	0.591526896791	0.58829	0.1991145472718713	0.19828	.	.	.	.	.	0.086519	0.37743	T	-0.47835	0.00756	T	-0.584344	0.14160	T	.	.	.	0.323368	0.06588	T	0.20130898	0.42138	0.23354726	0.48547	0.20130898	0.42137	0.23354726	0.48546	-4.139	0.25863	T	.	.	0.164	0.36113	B	.	.	2.291072	0.29305	18.08	0.96652538825715284	0.30596	0.16418	0.19380	N	AEFBI	0.124112	0.24002	N	.	.	.	.	.	.	0.997548531848943	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.527494	0.11647	0	0.564101	0.26826	0	.	.	5.95	4.79	0.60909	2.295000	0.43236	6.093000	0.53467	0.665000	0.62972	0.064000	0.21895	0.994000	0.32194	0.002000	0.04165	0.0:0.0788:0.0:0.9212	9.799	0.39918	772	0.48957	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1571.33	41	chr6	24797645	.	T	C	1571.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.084;DP=829;ExcessHet=0;FS=0.589;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.95;ReadPosRankSum=0.243;SOR=0.642	GT:AD:DP:GQ:PL	0/1:92,66:158:99:1585,0,2500	18	0	1	0
chr6	29724188	29724188	A	G	exonic	HLA-F	.	nonsynonymous SNV	HLA-F:NM_001098478:exon3:c.A350G:p.Q117R,HLA-F:NM_001098479:exon3:c.A350G:p.Q117R,HLA-F:NM_018950:exon3:c.A350G:p.Q117R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.000545157378686	0.0001	.	8.661e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs28628033	6.846e-07	6.84e-07	1.362e-06	0	2.987e-05	0	0	.	.	2.987e-05	0	0	0	0	0	0	0	0	6.569e-06	6.567e-06	1.284e-05	0	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.0	0.91255	D	0.001	0.92824	D	0.896	0.49324	P	0.814	0.66279	P	0.003688	0.34611	U	0.000000	1	0.29426	N	3.99	0.96693	H	8.3	0.00261	T	-3.64	0.70314	D	0.445	0.49874	-1.0611	0.11483	T	0.023	0.09741	T	10	0.3133424	0.48786	T	5.45E-4	0.00196	T	0.102	0.29158	.	.	0.273938319068	0.27005	0.7907556312582983	0.79027	1.37107048066	0.84535	0.30844861269	0.11672	T	0.31411	0.68582	T	-0.0488847	0.44617	T	-0.307996	0.43873	T	0.963096141815186	0.66558	D	0.570643	0.20320	T	0.850253	0.87354	0.80004877	0.88273	0.850253	0.87355	0.80004877	0.88273	-9.968	0.73804	D	.	.	0.501	0.67259	A	.;.;.;.	.;.;.;.	3.486053	0.48708	22.7	0.61852636814207151	0.06813	0.03185	0.08170	N	AEFDGBCI	0.085979	0.17432	N	0.0645039009909192	0.44813	2.748512	-0.321046226925983	0.27420	1.521362	0.999999888968716	0.74766	0.72623	0.87236	0	0.504199	0.08210	0	0.594344	0.31042	0	0.618803	0.45993	0	.	.	1.63	1.63	0.22882	1.141000	0.31140	.	.	0.553000	0.28181	0.003000	0.16062	0.000000	0.08366	0.046000	0.14843	1.0:0.0:0.0:0.0	5.212	0.14642	856	0.34373	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;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	937.33	35	chr6	29724188	.	A	G	937.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.521;DP=779;ExcessHet=0;FS=3.892;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.01;ReadPosRankSum=-0.765;SOR=1.153	GT:AD:DP:GQ:PL	0/1:63,41:104:99:951,0,1681	18	0	1	0
chr6	30705288	30705288	G	A	exonic	MDC1	.	stopgain	MDC1:NM_014641:exon10:c.C3895T:p.R1299X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1362687413	6.198e-06	6.842e-06	8.221e-06	4.154e-06	8.124e-06	2.92e-06	2.11e-06	3.82e-06	2.77e-06	0	0	0	0	0	0	8.124e-06	0	0	6.612e-06	6.588e-06	0	1.355e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.007509	0.31355	N	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.586	0.60664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.413012	0.90647	D	0.355487	0.90530	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	7.548115	0.96628	36	0.99740810564760529	0.83482	0.89579	0.50134	D	AEFBI	0.046648	0.07769	N	0.559446095650301	0.70660	5.534164	0.280126044387167	0.54381	3.603173	0.991729322328383	0.32587	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	3.23	3.23	0.36150	1.857000	0.39038	.	.	0.585000	0.30472	0.776000	0.29426	0.937000	0.28687	0.104000	0.18471	0.0:0.0:1.0:0.0	10.269	0.42652	884	0.28482	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	5291.33	39	chr6	30705288	.	G	A	5291.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.19;DP=2942;ExcessHet=0;FS=1.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.94;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.147;SOR=0.745	GT:AD:DP:GQ:PL	0/1:199,205:404:99:5305,0,4711	18	0	1	0
chr6	31026275	31026275	A	0	exonic	MUC22	.	.	.	.	442	915	59	11	95	176	0.0423862	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.08333	32631.1	654	chr6	31026275	.	A	*	32631.1	.	AC=3;AF=0.083;AN=36;BaseQRankSum=1.05;DP=9373;ExcessHet=0.6689;FS=0.527;InbreedingCoeff=0.015;MLEAC=3;MLEAF=0.083;MQ=59.99;MQRankSum=0;QD=9.33;ReadPosRankSum=-0.68;SOR=0.607	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:405,128:533:99:0|1:31026245_ACCACAGGCT_A:4156,0,16621:31026245	15	0	3	1
chr6	31029837	31029839	GTA	-	exonic	MUC22	.	nonframeshift deletion	MUC22:NM_001198815:exon3:c.4406_4408del:p.C1469_T1470delinsS,MUC22:NM_001318484:exon3:c.4415_4417del:p.C1472_T1473delinsS,MUC22:NM_001322469:exon4:c.4415_4417del:p.T1473_G1777delinsSGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	427	983	61	0	51	112	0.0300937	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.275e-05	0	0	0	.	0	0	0.0001	.	.	.	rs775610649	0.0023	0.0032	0.0022	0.0024	0.0049	0.0022	0.0022	0.0043	0.0040	0.0009	0.0049	0.0030	0.0036	0.0157	0.0033	0.0018	0.0031	0.0023	0.0026	0.0070	0.0025	0.0026	0.0036	0.0023	0.0023	0.0028	0.0026	0.0008	0.0046	0.0036	0.0024	0.0004	0.0056	0.0036	0.0031	0.0029	0.0034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	2348.25	539	chr6	31029836	.	TGTA	T	2348.25	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-1.958;DP=11899;ExcessHet=0.3672;FS=1.435;InbreedingCoeff=-0.1176;MLEAC=1;MLEAF=0.029;MQ=59.42;MQRankSum=-14.25;QD=0.89;ReadPosRankSum=-9.982;SOR=0.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:733,116:849:99:0|1:31029812_T_G:2361,0,30395:31029812	16	0	1	2
chr6	31029842	31029842	-	CTG	exonic	MUC22	.	nonframeshift insertion	MUC22:NM_001198815:exon3:c.4411_4412insCTG:p.T1471_G1472insA,MUC22:NM_001318484:exon3:c.4420_4421insCTG:p.T1474_G1475insA,MUC22:NM_001322469:exon4:c.4420_4421insCTG:p.G1475_G1777delinsAGSETNTACTTGSETSTPSSAGSETNTAFIIGSETTIASTASLEPTATSLTGSETTTVSITASGATAASTTVSSTTFVLTKATDVSIQPITNTPMSGTRTTGTRLTASSSVTMAPGMDFTASAASHTVPGIVLNTSGLGTSTMGASSTTSAHGVRTTTGSTREPTSSTFQETGPVSMGTNTVSMSHTPTNVIKPSGYLQPWAIILISLAAVVAAVGLSVGLSFCLRNLFFPLRYCGIYYPHGHSHSLGLDLNLGLGSGTFHSLGNALVHGGELEMGHGGTHGFGYGVGHGLSHIHGDGYGVNHGGHYGHGGGH*	.	425	1038	57	0	2	59	0.0267229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.278e-05	0	0	0	.	0	0	0.0001	.	.	.	rs749779546	0.0019	0.0028	0.0019	0.0020	0.0037	0.0019	0.0018	0.0032	0.0030	0.0008	0.0037	0.0027	0.0032	0.0121	0.0027	0.0015	0.0024	0.0014	0.0016	0.0039	0.0015	0.0017	0.0030	0.0014	0.0014	0.0023	0.0020	0.0003	0.0049	0.0030	0.0012	0.0004	0.0046	0.0037	0.0017	0.0015	0.0023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	1759.1	539	chr6	31029842	.	A	ACTG	1759.1	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-0.375;DP=11672;ExcessHet=0;FS=0;InbreedingCoeff=-0.0556;MLEAC=1;MLEAF=0.029;MQ=59.41;MQRankSum=-15.1;QD=2.13;ReadPosRankSum=-9.466;SOR=0.653	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:726,99:825:99:0|1:31029812_T_G:1772,0,30188:31029812	16	0	1	2
chr6	31270002	31270002	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon5:c.G979A:p.V327M,HLA-C:NM_002117:exon5:c.G979A:p.V327M	.	42	1035	385	60	0	505	0.196117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.084	.	.	0.141573	0.1174	0.1904	0.1851	0.0488	0.1727	0.1036	0.1330	0.0921	0.102534	15852	154602	rs146911342	1.427e-05	0.0053	1.28e-05	1.579e-05	0.0002	7.66e-06	5.6e-06	8.98e-05	6.321e-05	0.0002	0	0	0	0	0	3.189e-06	0	0.0002	3.138e-05	0.0086	0	6.583e-05	0.0002	5.21e-06	1.95e-06	2.84e-05	1.186e-05	0.0002	0	0	0	0	0	0	0	0	0	0.047	0.40319	D	0.062	0.46406	T	0.023	0.18885	B	0.021	0.22741	B	.	.	.	.	1	0.08975	P	.	.	.	5.37	0.01042	T	-1.48	0.36980	N	0.17	0.18103	-0.9653	0.38151	T	0.002	0.00585	T	8	0.0033346713	0.00058	T	.	.	.	0.084	0.24469	.	.	.	.	0.14371634720666823	0.14294	0.510872535537	0.49183	0.311629235744	0.12153	T	0.095	0.39449	T	-0.600027	0.00146	T	-0.490854	0.23302	T	0.00723602823328332	0.00083	T	0.783822	0.42110	T	.	.	.	.	.	.	.	.	-7.182	0.55352	T	.	.	0.119	0.26388	B	.;.;.	.;.;.	1.630154	0.20816	14.92	0.35910209056378567	0.02280	0.09829	0.15495	N	AEFDBHCI	0.041671	0.06366	N	-0.93655345300227	0.09997	0.4756529	-1.07653106513011	0.08164	0.4002044	0.999999182371296	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	2.67	-1.63	0.07900	0.654000	0.24603	.	.	0.539000	0.25131	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.34:0.3867:0.2733	3.715	0.07965	934	0.15400	.;.;.	.	.	.	.	chr6:31237779	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	1	0	0	0	0.069628	0.045455	0.089552	0.028090	0.000000	0.046296	0.069930	0.077236	0.2368	18619.8	199	chr6	31270002	.	C	T	18619.8	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-1.347;DP=3202;ExcessHet=5.3738;FS=0.521;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=59.06;MQRankSum=-0.866;QD=12.62;ReadPosRankSum=-0.528;SOR=0.73	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:103,61:164:99:.:.:1471,0,2974:.	10	0	9	0
chr6	31270250	31270250	C	A	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon4:c.G855T:p.M285I,HLA-C:NM_002117:exon4:c.G855T:p.M285I	.	42	1114	319	47	0	413	0.15638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.090	.	.	0.147564	0.0652	0.1246	0.0907	0.0399	0.0897	0.0532	0.0972	0.0679	0.0598505	9253	154602	rs41540117	0.0001	0.0045	5.08e-05	0.0002	0.0011	0.0001	0.0001	0.0008	0.0007	0.0005	0.0002	0.0001	0.0002	3.795e-05	0	7.457e-05	0.0001	0.0011	1.561e-05	0.0024	2.991e-05	0	0.0002	0	0	.	.	0	0	0.0002	0	0	0	0	0	0	0	0.001	0.78490	D	0.017	0.60337	D	0.0	0.07471	B	0.0	0.11217	B	0.002056	0.37364	U	0.000000	1	0.08975	P	.	.	.	4.31	0.02412	T	1.0	0.01408	N	0.102	0.08506	-1.1114	0.02952	T	0.009	0.03448	T	9	0.0022325218	0.00032	T	.	.	.	0.144	0.38394	0.415	0.45380	.	.	0.40286916197994754	0.40202	0.54758036057	0.51724	0.374997138977	0.21546	T	0.020473	0.16112	T	-0.107029	0.35259	T	-0.391516	0.34375	T	0.0737698282644503	0.09171	T	0.523848	0.17660	T	.	.	.	.	.	.	.	.	-3.499	0.16417	T	.	.	0.17	0.38135	B	.;.;.	.;.;.	1.839496	0.23369	15.99	0.41265010250660528	0.02966	0.31228	0.24284	N	AEFBCI	0.105352	0.21052	N	-0.385752648738085	0.25975	1.414194	-0.472263407324781	0.22921	1.247408	0.999999560978343	0.74766	0.67177	0.52595	0	0.672317	0.65289	0	0.643519	0.47002	0	0.711	0.71501	0	.	.	2.67	2.67	0.30756	1.360000	0.33729	.	.	0.539000	0.25131	0.893000	0.31264	0.000000	0.08366	0.008000	0.08271	0.0:1.0:0.0:0.0	9.019	0.35351	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	rs115240290	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0.091557	0.090909	0.091281	0.080645	0.150000	0.025862	0.129630	0.109848	0.2368	7474.82	61	chr6	31270250	.	C	A	7474.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=0.055;DP=1875;ExcessHet=5.3738;FS=5.544;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=52.1;MQRankSum=-2.734;QD=9.82;ReadPosRankSum=-1.702;SOR=1.093	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:31,28:59:99:.:.:832,0,908:.	10	0	9	0
chr6	31271103	31271103	C	T	exonic	HLA-C	.	nonsynonymous SNV	HLA-C:NM_001243042:exon3:c.G589A:p.E197K,HLA-C:NM_002117:exon3:c.G589A:p.E197K	.	0	1403	119	0	0	119	0.0406838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	.	.	.	0.1110	0.0746	0.0941	0.2012	0.1819	0.1147	0.0891	0.0572	0.0917647	14187	154602	rs1050357	0.0006	0.0078	0.0006	0.0006	0.0026	0.0005	0.0005	0.0020	0.0018	0.0003	0.0009	0.0002	0.0026	0.0004	0	0.0005	0.0004	0.0012	0.0003	0.0092	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0002	0.0001	0	0	0	0	0.0002	0	0.0004	0	0	0.093	0.31532	T	0.02	0.59159	D	0.002	0.09854	B	0.006	0.12133	B	0.789762	0.09406	U	0.857122	0.426676	0.32312	P	.	.	.	5.6	0.00825	T	-3.04	0.63782	D	0.031	0.01004	-0.3665	0.73068	T	0.302	0.67297	T	9	0.0043652654	0.00089	T	.	.	.	0.227	0.52620	.	.	.	.	0.223966816434011	0.22311	0.55958892267	0.52497	0.365928024054	0.20246	T	0.015762	0.13159	T	-0.5327	0.00370	T	-0.394143	0.34067	T	0.0614167510250327	0.07389	T	0.586841	0.21439	T	.	.	.	.	.	.	.	.	-6.911	0.53380	T	.	.	0.143	0.35225	B	.;.;.	.;.;.	2.220269	0.28336	17.76	0.92642286042257171	0.22116	0.17864	0.20020	N	AEFBHCI	0.275676	0.39058	N	-0.179300595314162	0.33997	1.935281	-0.334977477670174	0.26977	1.493829	0.99999999125913	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	2.71	2.71	0.31092	-0.711000	0.05121	.	.	-1.944000	0.00489	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.0:1.0:0.0:0.0	11.543	0.49932	934	0.15400	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	.	.	.	.	rs145793920	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026998	0.005051	0.021739	0.024272	0.000000	0.043103	0.045732	0.041667	0.1053	4289.43	172	chr6	31271103	.	C	T	4289.43	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.236;DP=2622;ExcessHet=0.7564;FS=2.051;InbreedingCoeff=-0.1176;MLEAC=4;MLEAF=0.105;MQ=54.29;MQRankSum=1.21;QD=8.38;ReadPosRankSum=0.539;SOR=0.541	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:90,41:131:99:0|1:31270985_T_C:1411,0,3543:31270985	15	0	4	0
chr6	31355425	31355425	T	C	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.A787G:p.R263G	.	0	927	595	0	0	595	0.242956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.070	.	.	.	0.2427	0.2221	0.2151	0.2593	0.1977	0.2427	0.2413	0.2835	3.84e-05	1	26028	rs41545916	6.978e-05	0.0017	7.287e-05	6.665e-05	0.0004	5.837e-05	5.445e-05	6.35e-05	2.683e-05	6.07e-05	6.798e-05	0.0015	0	0	0.0004	3.628e-05	0.0001	8.195e-05	0.0003	0.0048	0.0004	0.0002	0.0003	0.0002	0.0002	0.0002	0.0002	0.0003	0	0.0003	0.0011	0.0003	0	0	0.0003	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.017476	0.27716	N	0.165679	0.986046	0.24654	N	.	.	.	4.34	0.02341	T	3.3	0.00105	N	0.051	0.02272	-1.0151	0.25304	T	0.000	0.00114	T	10	0.0015430152	0.00017	T	.	.	.	0.070	0.20419	.	.	.	.	0.3942460569328166	0.39339	0.283348990526	0.30779	.	.	.	0.019855	0.15737	T	-0.268638	0.11909	T	-0.623656	0.10901	T	0.00166754910760778	0.00017	T	0.446155	0.12501	T	0.3324303	0.55668	0.11348576	0.27388	0.3324303	0.55669	0.11348576	0.27388	2.773	0.00026	T	.	.	0.034	0.00010	B	.;.	.;.	0.246319	0.06261	2.715	0.81034162823799205	0.13487	0.00542	0.02495	N	AEFDBHCI	0.071522	0.14241	N	-1.65128738568244	0.01029	0.04464861	-1.46518231632646	0.02636	0.1215648	0.999996036317984	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.663205	0.64265	0	.	.	3.16	1.33	0.20958	1.006000	0.29449	.	.	-1.096000	0.01523	0.050000	0.21411	0.000000	0.08366	0.043000	0.14563	0.0:0.778:0.0:0.222	7.857	0.28649	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.260000	0.227273	0.254076	0.257426	0.150000	0.267241	0.246951	0.265152	0.2105	2740.21	219	chr6	31355425	.	T	C	2740.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.64;DP=3555;ExcessHet=4.0268;FS=22.975;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=58;MQRankSum=-13.22;QD=1.62;ReadPosRankSum=-0.429;SOR=1.567	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:197,29:226:99:.:.:393,0,5981:.	11	0	8	0
chr6	31355485	31355485	G	A	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon4:c.C727T:p.R243W	.	2	1475	45	0	0	45	0.015025	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.081	.	.	.	0.0756	0.0608	0.0649	0.1536	0.1036	0.0744	0.0567	0.0477	0.0612476	9469	154602	rs77665001	3.623e-05	0.0006	3.746e-05	3.498e-05	6.167e-05	2.813e-05	2.547e-05	2.757e-05	2.427e-05	6.167e-05	2.273e-05	0	5.218e-05	9.623e-05	0	3.658e-05	3.402e-05	0	2.113e-05	0.0007	0	4.407e-05	4.608e-05	3.51e-06	1.31e-06	.	.	4.608e-05	0	0	0	0	0	0	2.056e-05	0	0	0.01	0.56456	D	0.028	0.54934	D	0.087	0.24971	B	0.01	0.14941	B	0.072641	0.21396	U	0.232653	0.998462	0.22137	N	.	.	.	4.02	0.03178	T	-4.6	0.78976	D	0.091	0.06990	-0.9745	0.36235	T	0.005	0.01761	T	10	0.0033483803	0.00058	T	.	.	.	0.081	0.23632	.	.	.	.	0.4886347790284662	0.48783	0.845847542206	0.68292	.	.	.	0.049552	0.28339	T	-0.171938	0.24943	T	-0.484754	0.23942	T	0.0577189491966582	0.06805	T	0.156384	0.01374	T	0.33154765	0.55598	0.21594661	0.46203	0.33154765	0.55598	0.21594661	0.46202	-11.025	0.79796	D	.	.	0.138	0.30049	B	.;.	.;.	3.074374	0.41339	21.3	0.99498701463246364	0.67916	0.07090	0.13116	N	AEFDBHCI	0.280251	0.39411	N	-0.58319343736692	0.19454	1.018365	-0.652664211715875	0.18149	0.9682657	0.999991412378256	0.74766	0.634777	0.41761	0	0.672317	0.65289	0	0.643519	0.47002	0	0.530356	0.10902	0	.	.	3.16	-0.095	0.12979	0.423000	0.21032	.	.	-0.218000	0.08083	0.005000	0.17040	0.000000	0.08366	0.484000	0.28656	0.2793:0.0:0.3821:0.3386	2.536	0.04428	934	0.15400	Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set;Immunoglobulin C1-set|Immunoglobulin-like domain|Immunoglobulin C1-set	.	.	.	.	chr6:31323262	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.038961	0.025253	0.024457	0.025000	0.050000	0.060345	0.064024	0.068182	0.02632	56.33	221	chr6	31355485	.	G	A	56.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.8;DP=4086;ExcessHet=0;FS=40.582;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.77;MQRankSum=-15.51;QD=0.19;ReadPosRankSum=-0.225;SOR=3.242	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:277,22:299:70:0|1:31355477_G_C:70,0,11063:31355477	18	0	1	0
chr6	31356197	31356197	C	T	exonic	HLA-B	.	nonsynonymous SNV	HLA-B:NM_005514:exon3:c.G589A:p.E197K	.	8	1465	49	0	0	49	0.0164485	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	.	.	0.0189	0.0129	0.0199	0.0348	0.0234	0.0147	0.0177	0.0294	3.84e-05	1	26028	rs41545114	0.0004	0.0031	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0010	0.0002	0.0014	0.0001	0.0013	0.0011	0.0003	0.0003	0.0003	0.0004	0.0004	0.0059	0.0004	0.0004	0.0007	0.0003	0.0002	0.0002	0.0001	0.0004	0	0.0007	0	0	0.0008	0	0.0003	0.0016	0	0.012	0.65419	D	0.021	0.58089	D	0.632	0.40232	P	0.417	0.44992	B	0.805050	0.09294	U	0.866418	0.896629	0.27782	N	.	.	.	5.6	0.00825	T	-3.0	0.62343	D	0.082	0.05799	-1.0564	0.12672	T	0.010	0.03492	T	10	0.0079647	0.00181	T	.	.	.	0.165	0.42395	.	.	.	.	0.2591834140118568	0.25832	0.873438287621	0.69479	.	.	.	0.016952	0.13915	T	-0.0549219	0.43696	T	-0.316668	0.42939	T	0.0505667294951351	0.05598	T	0.630337	0.25361	T	0.36580047	0.58273	0.28238165	0.54226	0.36580047	0.58274	0.28238165	0.54225	-7.553	0.57982	D	.	.	0.117	0.42433	B	.;.;.	.;.;.	3.080477	0.41440	21.4	0.94945969232258332	0.25847	0.16475	0.19406	N	AEFDBHCI	0.108565	0.21592	N	-0.152863992918151	0.35113	2.012754	-0.417645654591778	0.24479	1.340699	0.999995060563035	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.554799	0.18163	0	.	.	3.18	1.3	0.20778	-0.350000	0.07769	.	.	0.452000	0.21348	0.000000	0.06391	0.000000	0.08366	0.060000	0.15972	0.0:0.7684:0.0:0.2316	7.479	0.26562	934	0.15400	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004956	0.000000	0.001401	0.004673	0.000000	0.000000	0.006329	0.007692	0.07895	597.79	43	chr6	31356197	.	C	T	597.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.94;DP=1409;ExcessHet=0.3672;FS=24.956;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=47.29;MQRankSum=-0.368;QD=2.89;ReadPosRankSum=-1.551;SOR=2.772	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:71,10:81:99:0|1:31356192_G_A:206,0,2860:31356192	16	0	3	0
chr6	31356748	31356750	CCT	0	exonic	HLA-B	.	.	.	.	92	56	75	5	1294	1379	0.431472	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8684	754.83	150	chr6	31356748	.	CCT	*	754.83	.	AC=33;AF=0.868;AN=38;DP=2092;ExcessHet=0.7564;FS=0.797;InbreedingCoeff=-0.1176;MLEAC=33;MLEAF=0.868;MQ=52.89;QD=0.36;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,120:120:99:1|1:31356739_C_A:5400,361,0:31356739	0	14	5	0
chr6	31356827	31356827	T	0	exonic	HLA-B	.	.	.	.	73	133	388	93	835	1409	0.683333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6053	15267.6	189	chr6	31356827	.	T	*	15267.6	.	AC=23;AF=0.605;AN=38;BaseQRankSum=-0.098;DP=3185;ExcessHet=5.3738;FS=1.261;InbreedingCoeff=-0.3103;MLEAC=23;MLEAF=0.605;MQ=55.28;MQRankSum=-11.08;QD=4.9;ReadPosRankSum=-1.284;SOR=0.859	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,191:191:99:1|1:31356809_C_T:8585,575,0:31356809	3	7	9	0
chr6	31412383	31412384	TG	0	exonic;splicing	MICA;MICA	NM_000247:exon6:r.spl	.	.	.	653	335	270	56	208	590	0.363118	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	11117.1	61	chr6	31412383	.	TG	*	11117.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.569;DP=1342;ExcessHet=0.0541;FS=0;InbreedingCoeff=0.3667;MLEAC=7;MLEAF=0.184;MQ=60;MQRankSum=0;QD=14.88;ReadPosRankSum=-0.358;SOR=0.749	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,16:39:99:.:.:1771,852,917:.	12	0	7	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	15088.7	61	chr6	31412384	.	G	*	15088.7	.	AC=13;AF=0.342;AN=38;BaseQRankSum=1.42;DP=1354;ExcessHet=5.6906;FS=0;InbreedingCoeff=-0.2828;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=15.44;ReadPosRankSum=0.242;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,23:39:97:.:.:1174,98,0:.	7	1	11	0
chr6	31625601	31625601	T	C	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.T749C:p.M250T,PRRC2A:NM_080686:exon7:c.T749C:p.M250T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0178076993305	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.022e-07	6.841e-07	0	1.42e-06	9.161e-07	0	0	.	.	0	0	0	0	0	0	9.161e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.16	0.31427	T	0.985	0.61118	D	0.637	0.51992	P	0.000005	0.62929	D	0.000000	0.995498	0.42717	D	2.105	0.58435	M	4.53	0.01980	T	-4.28	0.76334	D	0.586	0.61680	-0.8368	0.52858	T	0.008	0.02720	T	10	0.43278176	0.57599	T	0.017808	0.39652	T	0.142	0.37995	0.195	0.10705	0.128874641272	0.12493	0.5487022548939708	0.54796	0.180877748463	0.20346	0.868078529835	0.92292	D	0.045246	0.27062	T	-0.000470291	0.51590	T	-0.238452	0.50949	T	0.941546738147736	0.61490	D	0.757724	0.38135	T	0.6803623	0.76989	0.726591	0.83849	0.6803623	0.76990	0.726591	0.83850	-10.319	0.75799	D	.	.	0.987	0.96107	P	.;.	.;.	3.901954	0.56841	23.8	0.93194787374129984	0.22862	0.76208	0.37359	D	AEFDBCI	0.190166	0.31740	N	0.457200889062192	0.64613	4.719805	0.475887910268732	0.66395	4.94659	0.999999757296763	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.242000	0.51082	.	.	0.639000	0.52094	1.000000	0.71638	1.000000	0.68203	0.982000	0.59238	0.0:0.0:0.0:1.0	13.917	0.63410	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	9298.23	135	chr6	31625601	.	T	C	9298.23	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-2.715;DP=2550;ExcessHet=25.4433;FS=276.319;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=1.09;SOR=12.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,31:135:99:0|1:31625601_T_C:490,0,3506:31625601	1	0	16	2
chr6	31625602	31625602	G	A	exonic	PRRC2A	.	nonsynonymous SNV	PRRC2A:NM_004638:exon7:c.G750A:p.M250I,PRRC2A:NM_080686:exon7:c.G750A:p.M250I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.0251130273271	7.7e-05	.	1.784e-05	0.0002	0	0	0	0	0	0	1.29e-05	2	154602	rs145609055	3.51e-06	4.788e-06	5.554e-06	1.42e-06	0.0001	1.03e-06	7.5e-07	4.163e-05	2.527e-05	0.0001	0	0	0	0	0	9.159e-07	0	0	6.577e-06	6.567e-06	1.286e-05	0	2.417e-05	0	0	.	.	2.417e-05	0	0	0	0	0	0	0	0	0	0.123	0.27544	T	0.045	0.49390	D	0.817	0.45613	P	0.292	0.40739	B	0.000005	0.62929	D	0.000000	0.999301	0.46608	D	2.105	0.58435	M	4.62	0.01834	T	-1.88	0.43906	N	0.361	0.40565	-0.6283	0.63643	T	0.004	0.01400	T	10	0.19789547	0.35739	T	0.025113	0.48090	D	0.179	0.44899	0.192	0.10304	0.19168177325	0.18762	0.40434125802200627	0.40350	0.17321795193	0.19509	0.804894983768	0.82710	D	0.021964	0.17018	T	-0.199437	0.20885	T	-0.287586	0.46022	T	0.45686399936676	0.31050	T	0.867413	0.56831	D	0.274247	0.50490	0.26731342	0.52588	0.274247	0.50490	0.26731342	0.52587	-5.343	0.40366	T	.	.	0.916	0.88221	P	.;.	.;.	4.189641	0.63134	24.5	0.9887765022119781	0.47771	0.95609	0.65407	D	AEFDBCI	0.573860	0.57688	D	0.38079905834961	0.60382	4.226512	0.455960616804997	0.65101	4.781292	0.999999999999631	0.74766	0.706548	0.73137	0	0.697927	0.68747	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	5.06	5.06	0.67838	3.736000	0.54774	.	.	0.650000	0.52971	1.000000	0.71638	1.000000	0.68203	0.970000	0.54328	0.0:0.0:1.0:0.0	17.348	0.87202	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4706	10016.2	136	chr6	31625602	.	G	A	10016.2	.	AC=16;AF=0.471;AN=34;BaseQRankSum=-3.692;DP=2549;ExcessHet=25.4433;FS=287.442;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=1.15;SOR=12.674	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:104,31:135:99:0|1:31625601_T_C:490,0,3506:31625601	1	0	16	2
chr6	31770042	31770042	C	G	exonic	VWA7	.	nonsynonymous SNV	VWA7:NM_025258:exon8:c.G1159C:p.G387R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.859	0.382536251345	0.0006	0.000798722	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0	0.0001	0.0002005	31	154602	rs139629177	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	0.0003	0.0003	0.0003	0.0004	0.0003	3.826e-05	0.0001	9.557e-05	0.0002	0.0003	0.0004	0.0001	0.0003	0.0003	0.0003	0.0003	0.0006	0.0002	0.0002	0.0002	0.0002	0.0004	0.0011	0.0001	0	0.0006	0	0	0.0004	0.0009	0	0.002	0.72154	D	0.003	0.76473	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.84330	N	0.054728	0.999996	0.58761	D	2.64	0.77224	M	-4.99	0.98507	D	-6.55	0.91827	D	0.721	0.72299	1.099	0.99603	D	0.970	0.99068	D	10	0.7772854	0.77563	D	0.382536	0.93005	D	0.859	0.95691	0.554	0.67133	0.860134384049	0.85878	0.8068829448024164	0.80643	0.998807658357	0.74341	0.587986767292	0.51209	T	0.358821	0.72532	T	0.248883	0.78496	D	0.501695	0.94650	D	0.899022877216339	0.55124	D	.	.	.	0.4187118	0.62006	0.31914598	0.57878	0.4187118	0.62006	0.31914598	0.57877	-3.133	0.11679	T	.	.	0.436	0.61485	A	.	.	4.232157	0.64097	24.7	0.99939990095006093	0.99767	0.77015	0.37822	D	ALL	0.572521	0.57606	D	0.81297688879816	0.86912	9.03981	0.759839886209209	0.86892	9.036705	1.0	0.98316	0.696267	0.57585	0	0.637152	0.57089	0	0.659943	0.59835	0	0.636	0.56748	0	.	.	5.77	5.77	0.91077	2.762000	0.47278	.	.	0.596000	0.33519	0.999000	0.42656	0.061000	0.22037	0.949000	0.49496	0.0:1.0:0.0:0.0	17.476	0.87552	895	0.25842	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1235.33	39	chr6	31770042	.	C	G	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.5;DP=753;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=0.056;SOR=0.742	GT:AD:DP:GQ:PL	0/1:47,57:104:99:1249,0,1078	18	0	1	0
chr6	31996553	31996553	T	G	exonic	C4A;C4B;C4B_2;LOC110384692	.	nonsynonymous SNV	C4B:NM_001002029:exon28:c.T3629G:p.L1210R,C4B_2:NM_001242823:exon28:c.T3629G:p.L1210R,C4A:NM_001252204:exon28:c.T3629G:p.L1210R,LOC110384692:NM_001352000:exon28:c.T3629G:p.L1210R,C4A:NM_007293:exon28:c.T3629G:p.L1210R	.	2	1448	71	1	0	73	0.0245874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	.	0.0058	0.0056	0.0100	0.0069	0.0007	0.0063	0.0040	0.0036	3.23e-05	5	154602	rs28357076	0.0007	0.0025	0.0006	0.0007	0.0021	0.0006	0.0006	0.0017	0.0016	0.0015	0.0009	0.0002	0.0021	0.0007	0.0014	0.0005	0.0007	0.0012	0.0014	0.0042	0.0014	0.0015	0.0024	0.0013	0.0012	0.0020	0.0019	0.0024	0	0.0017	0.0006	0.0023	0.0001	0	0.0010	0.0010	0.0011	0.917	0.02327	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	P	-1.88	0.00248	N	1.55	0.29866	T	1.17	0.01121	N	0.065	0.06587	-0.9386	0.42837	T	0.004	0.01365	T	8	0.005549848	0.00123	T	.	.	.	0.061	0.17616	.	.	.	.	0.3103683523119763	0.30949	.	.	.	.	.	0.003124	0.02525	T	-0.653859	0.00069	T	-0.682724	0.06818	T	0.000517572450278177	0.00004	T	0.369963	0.08710	T	0.0992703	0.23427	0.069453366	0.14635	0.0992703	0.23426	0.069453366	0.14634	1.17	0.00123	T	.	.	0.045	0.00043	B	.;.	.;.	-1.765232	0.00169	0.002	0.49284754452001944	0.04184	0.00039	0.00329	N	AEFDI	0.125283	0.24172	N	-2.27395090326263	0.00052	0.002238132	-2.26176583485372	0.00081	0.003562557	0.126218125399761	0.16995	0.638212	0.43195	0	0.670034	0.63936	0	0.573888	0.23631	0	0.620846	0.47308	0	.	.	3.53	-6.54	0.01692	-0.915000	0.04142	.	.	-3.027000	0.00136	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.3386:0.0:0.5066:0.1548	5.704	0.17166	923	0.18507	Alpha-macroglobulin complement component;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.058470	0.061224	0.043597	0.026596	0.100000	0.051724	0.100610	0.056818	0.05263	2232.83	34	chr6	31996553	.	T	G	2232.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.624;DP=961;ExcessHet=0.119;FS=8.928;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=57.41;MQRankSum=-3.984;QD=10.95;ReadPosRankSum=0.495;SOR=1.302	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:37,48:85:99:0|1:31996553_T_G:1858,0,1410:31996553	17	0	2	0
chr6	32182963	32182963	G	T	exonic	AGER	.	stopgain	AGER:NM_001136:exon6:c.C569A:p.S190X,AGER:NM_001206929:exon6:c.C617A:p.S206X,AGER:NM_001206932:exon6:c.C527A:p.S176X,AGER:NM_001206934:exon6:c.C617A:p.S206X,AGER:NM_001206936:exon6:c.C569A:p.S190X,AGER:NM_001206940:exon6:c.C569A:p.S190X,AGER:NM_001206954:exon6:c.C569A:p.S190X,AGER:NM_001206966:exon6:c.C569A:p.S190X,AGER:NM_172197:exon6:c.C527A:p.S176X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.606e-06	0	0	0	0	1.58e-05	0	0	6.5e-06	1	154602	rs766063160	6.162e-06	6.156e-06	5.45e-06	6.881e-06	0.0003	2.9e-06	2.1e-06	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	6.295e-06	0	0	6.57e-06	6.566e-06	1.284e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000081	0.52346	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.851	0.84713	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.436705	0.91863	D	0.38952	0.91763	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;Recessive;.;.;.	.;.;.;.;High;.;.;.	8.387534	0.97504	37	0.99316928179798991	0.59241	0.90109	0.51032	D	AEFBCI	0.052838	0.09468	N	0.704024676738869	0.79898	7.175712	0.538862912005789	0.70627	5.532966	0.999999975832824	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	5.3	5.3	0.74745	5.073000	0.64223	.	.	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.880000	0.42090	0.0:0.0:1.0:0.0	14.453	0.66971	929	0.16858	.;.;.;.;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1575.33	99	chr6	32182963	.	G	T	1575.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.125;DP=1144;ExcessHet=0;FS=0.679;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.24;ReadPosRankSum=-0.479;SOR=0.789	GT:AD:DP:GQ:PL	0/1:57,62:119:99:1589,0,1442	18	0	1	0
chr6	32443853	32443853	C	G	exonic	HLA-DRA	.	nonsynonymous SNV	HLA-DRA:NM_019111:exon4:c.C708G:p.I236M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00553422629597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0019	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	0.0002	2.251e-05	3.852e-05	5.054e-05	0	0.0002	0.0002	0.0001	4.682e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.049	0.48336	D	0.868	0.47740	P	0.534	0.48679	P	0.022538	0.26616	N	0.440036	1	0.08975	N	.	.	.	4.52	0.01997	T	-1.48	0.38151	N	0.272	0.36148	-0.9512	0.40765	T	0.006	0.02168	T	10	0.18965468	0.34574	T	0.005534	0.14258	T	0.031	0.07369	0.423	0.46693	0.285775778912	0.28195	0.40217806261540645	0.40133	0.978554424983	0.73646	0.351977914572	0.18212	T	0.017956	0.14556	T	-0.187692	0.22597	T	-0.507383	0.21586	T	0.568630933761597	0.35182	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.37727	B	.;.	.;.	2.465798	0.31770	18.84	0.99386995428342506	0.62157	0.11209	0.16481	N	AEFGBHCI	0.629542	0.61122	D	-0.253195381785185	0.30976	1.732382	-0.431463029269619	0.24079	1.316614	0.999998429225293	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	5.36	1.51	0.22094	1.124000	0.30934	.	.	0.539000	0.25131	0.280000	0.25141	0.000000	0.08366	0.356000	0.25796	0.0:0.5975:0.1492:0.2533	5.216	0.14664	929	0.16858	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1053	493.65	225	chr6	32443853	.	C	G	493.65	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.718;DP=3186;ExcessHet=0.7564;FS=285.125;InbreedingCoeff=-0.1324;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.64;ReadPosRankSum=1.58;SOR=11.58	GT:AD:DP:GQ:PL	0/1:149,54:203:99:122,0,3382	15	0	4	0
chr6	32521970	32521970	G	0	exonic	HLA-DRB5	.	.	.	.	128	791	65	0	538	603	0.0394657	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	1395.66	11	chr6	32521970	.	G	*	1395.66	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.94;DP=3885;ExcessHet=12.1646;FS=6.428;InbreedingCoeff=-0.5081;MLEAC=12;MLEAF=0.375;MQ=54.99;MQRankSum=-8.845;QD=0.55;ReadPosRankSum=-4.685;SOR=1.058	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:128,106:234:99:0|1:32521957_G_A:4053,0,5056:32521957	5	0	11	3
chr6	32521978	32521979	GT	0	exonic	HLA-DRB5	.	.	.	.	198	662	145	14	503	676	0.115564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3438	10871.8	10	chr6	32521978	.	GT	*	10871.8	.	AC=11;AF=0.344;AN=32;BaseQRankSum=3.86;DP=3693;ExcessHet=2.6076;FS=6.987;InbreedingCoeff=-0.1963;MLEAC=12;MLEAF=0.375;MQ=51.5;MQRankSum=-8.353;QD=4.27;ReadPosRankSum=-5.004;SOR=0.823	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:105,93:198:99:0|1:32521957_G_A:3589,0,4129:32521957	5	0	11	3
chr6	32522104	32522104	G	0	exonic	HLA-DRB5	.	.	.	.	223	868	2	0	429	431	0.00115075	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	4391.26	169	chr6	32522104	.	G	*	4391.26	.	AC=7;AF=0.184;AN=38;BaseQRankSum=2.87;DP=2472;ExcessHet=5.3738;FS=13.689;InbreedingCoeff=-0.3098;MLEAC=7;MLEAF=0.184;MQ=44.54;MQRankSum=5.13;QD=5.09;ReadPosRankSum=5.61;SOR=0.761	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:43,22:65:99:0|1:32522075_A_G:763,0,1739:32522075	12	0	7	0
chr6	32522156	32522156	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	44319.5	174	chr6	32522156	.	T	*	44319.5	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.806;DP=2448;ExcessHet=0.2833;FS=5.16;InbreedingCoeff=0.1857;MLEAC=7;MLEAF=0.184;MQ=51.87;MQRankSum=-12.7;QD=19.52;ReadPosRankSum=2.12;SOR=0.444	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,23:56:99:0|1:32522156_T_*:2351,1386,1316:32522156	11	0	8	0
chr6	32522157	32522157	C	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10272.1	171	chr6	32522157	.	C	*	10272.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.368;DP=2422;ExcessHet=1.0106;FS=0.579;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.84;MQRankSum=-11.54;QD=6.02;ReadPosRankSum=1.85;SOR=0.598	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,23:56:99:0|1:32522156_T_*:2351,1386,1316:32522156	12	0	7	0
chr6	32522159	32522159	T	0	exonic	HLA-DRB5	.	.	.	.	220	823	360	108	11	587	0.259226	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	10338.1	171	chr6	32522159	.	T	*	10338.1	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-0.296;DP=2407;ExcessHet=1.0106;FS=1.216;InbreedingCoeff=0.0526;MLEAC=7;MLEAF=0.184;MQ=52.76;MQRankSum=-11.38;QD=6.16;ReadPosRankSum=2.19;SOR=0.579	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,24:57:99:0|1:32522156_T_*:2418,1389,1313:32522156	12	0	7	0
chr6	32530184	32530184	T	0	exonic	HLA-DRB5	.	.	.	.	81	232	140	96	973	1305	0.417085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	36204.6	117	chr6	32530184	.	T	*	36204.6	.	AC=24;AF=0.632;AN=38;BaseQRankSum=-1.048;DP=1952;ExcessHet=0.0506;FS=1.466;InbreedingCoeff=0.3091;MLEAC=24;MLEAF=0.632;MQ=55.76;MQRankSum=-11;QD=20.24;ReadPosRankSum=-1.33;SOR=0.868	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51:51:99:1|1:32530183_CTT_C:2287,154,0:32530183	1	6	12	0
chr6	32530185	32530185	T	0	exonic	HLA-DRB5	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5833	40557.0	113	chr6	32530185	.	T	*	40557.0	.	AC=21;AF=0.583;AN=36;DP=1897;ExcessHet=0.0015;FS=0.786;InbreedingCoeff=0.4685;MLEAC=22;MLEAF=0.611;MQ=55.19;QD=24.54;SOR=0.812	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,51:51:99:1|1:32530183_CTT_C:2287,154,0:32530183	2	5	11	1
chr6	32584370	32584370	G	0	exonic	HLA-DRB1	.	.	.	.	164	387	826	46	99	1017	0.542553	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4167	53026.9	322	chr6	32584370	.	G	*	53026.9	.	AC=15;AF=0.417;AN=36;BaseQRankSum=3.39;DP=5457;ExcessHet=0.2833;FS=5.809;InbreedingCoeff=0.0877;MLEAC=15;MLEAF=0.417;MQ=53.43;MQRankSum=-13.94;QD=10.7;ReadPosRankSum=-1.02;SOR=1.11	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,210:335:99:0|1:32584366_C_T:14292,5264,4617:32584366	3	0	15	1
chr6	32641444	32641444	G	0	exonic	HLA-DQA1	.	.	.	.	476	488	96	33	429	591	0.142355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8603.32	126	chr6	32641444	.	G	*	8603.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.16;DP=3608;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.46;MQRankSum=-11.23;QD=2.84;ReadPosRankSum=-3.962;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,96:96:99:1|1:32641430_C_T:4320,289,0:32641430	4	4	11	0
chr6	32641445	32641445	A	0	exonic	HLA-DQA1	.	.	.	.	478	485	97	33	429	592	0.143866	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	8744.32	123	chr6	32641445	.	A	*	8744.32	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.85;DP=3609;ExcessHet=1.7862;FS=13.485;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=56.48;MQRankSum=-11.25;QD=2.89;ReadPosRankSum=-3.865;SOR=1	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,96:96:99:1|1:32641430_C_T:4320,289,0:32641430	4	4	11	0
chr6	32641462	32641462	G	0	exonic	HLA-DQA1	.	.	.	.	480	493	54	16	479	565	0.0802239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8228.31	130	chr6	32641462	.	G	*	8228.31	.	AC=20;AF=0.526;AN=38;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=56.58;QD=2.65;SOR=0.805	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,91:91:99:1|1:32641430_C_T:4088,274,0:32641430	3	4	12	0
chr6	32641464	32641464	T	0	exonic	HLA-DQA1	.	.	.	.	475	499	54	15	479	563	0.077634	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5263	8147.31	129	chr6	32641464	.	T	*	8147.31	.	AC=20;AF=0.526;AN=38;BaseQRankSum=-1.229;DP=3714;ExcessHet=1.7862;FS=5.077;InbreedingCoeff=-0.0523;MLEAC=20;MLEAF=0.526;MQ=57.44;MQRankSum=-9.417;QD=2.64;ReadPosRankSum=-2.677;SOR=0.807	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,91:91:99:1|1:32641430_C_T:4088,274,0:32641430	3	4	12	0
chr6	32641501	32641501	G	0	exonic	HLA-DQA1	.	.	.	.	496	603	6	2	415	425	0.00822368	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	17426.3	154	chr6	32641501	.	G	*	17426.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=5.31;DP=3915;ExcessHet=1.7862;FS=1.137;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.28;MQRankSum=-6.588;QD=5.23;ReadPosRankSum=1.7;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,62:62:99:1|1:32641476_G_A:2790,187,0:32641476	4	4	11	0
chr6	32641522	32641522	A	0	exonic	HLA-DQA1	.	.	.	.	497	607	54	19	345	437	0.0704441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	18488.6	155	chr6	32641522	.	A	*	18488.6	.	AC=19;AF=0.5;AN=38;BaseQRankSum=4.13;DP=4106;ExcessHet=1.7862;FS=3.314;InbreedingCoeff=-0.0523;MLEAC=19;MLEAF=0.5;MQ=58.48;MQRankSum=-6.247;QD=5.33;ReadPosRankSum=2.42;SOR=0.982	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,73:73:99:1|1:32641476_G_A:3153,220,0:32641476	4	4	11	0
chr6	33297033	33297033	A	C	exonic	RGL2	.	nonsynonymous SNV	RGL2:NM_004761:exon3:c.T239G:p.L80W	.	.	.	.	.	.	.	.	0.0004	0.038	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00528493007512	0.0002	.	0.0002	0	8.706e-05	0	0	0.0003	0.0012	0	0.000194	30	154602	rs139385178	0.0002	0.0002	0.0002	0.0002	0.0005	0.0002	0.0002	0.0002	0.0001	0	0.0002	0.0026	0	0	0.0005	0.0002	0.0004	8.661e-05	0.0002	0.0002	0.0003	0.0001	0.0003	0.0001	0.0001	0.0002	0.0001	4.825e-05	0	0.0001	0.0020	0	0	0	0.0003	0	0	0.023	0.48186	D	0.12	0.35970	T	0.876	0.48154	P	0.221	0.37837	B	0.073006	0.02272	N	1.969860	1	0.81001	D	0.695	0.17993	N	2.77	0.11407	T	0.31	0.11008	N	0.357	0.39861	-0.9624	0.38723	T	0.010	0.03627	T	10	0.017626762	0.00378	T	0.005285	0.13494	T	0.086	0.25016	.	.	0.383921772103	0.37999	0.4012227797257212	0.40037	0.887839185907	0.70081	0.390135377645	0.23689	T	0.02842	0.20594	T	-0.418712	0.01743	T	-0.54574	0.17737	T	0.0297025066751787	0.01944	T	.	.	.	0.07154659	0.15849	0.080445506	0.18198	0.07154659	0.15848	0.080445506	0.18198	-7.168	0.55251	T	.	.	0.092	0.17146	B	.;.	.;.	2.186056	0.27867	17.61	0.92899741465048247	0.22454	0.67889	0.33597	D	AEFDBCI	0.397860	0.47376	N	-0.121747489663462	0.36446	2.106806	-0.120908559241993	0.34547	1.988538	0.999997217120777	0.74766	0.660085	0.49399	0	0.662677	0.63036	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	4.44	0.488	0.16056	-0.207000	0.09388	0.464000	0.18647	0.743000	0.86499	0.546000	0.27314	0.002000	0.18203	0.999000	0.91618	0.6438:0.0:0.3562:0.0	6.461	0.21154	653	0.62661	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2016.33	33	chr6	33297033	.	A	C	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.016;DP=807;ExcessHet=0;FS=1.944;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=0.063;SOR=0.63	GT:AD:DP:GQ:PL	0/1:79,84:163:99:2030,0,2003	18	0	1	0
chr6	33315817	33315817	G	A	exonic	ZBTB22	.	nonsynonymous SNV	ZBTB22:NM_001145338:exon2:c.C1100T:p.P367L,ZBTB22:NM_005453:exon2:c.C1100T:p.P367L	.	417	1098	7	0	0	7	0.00317749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.085	0.0165891258494	0.0002	0.000998403	0.0007	9.615e-05	0.0002	0.0024	0	0.0005	0	0.0017	0.0006339	98	154602	rs144433957	0.0004	0.0004	0.0004	0.0005	0.0024	0.0004	0.0004	0.0015	0.0014	0.0001	0.0002	0.0037	0.0019	0	0.0024	0.0002	0.0007	0.0017	0.0003	0.0003	0.0003	0.0002	0.0019	0.0002	0.0002	0.0010	0.0007	0	0	0.0001	0.0020	0.0012	0	0.0034	0.0002	0.0009	0.0019	0.17	0.22833	T	0.377	0.16134	T	0.9	0.49598	P	0.22	0.37792	B	0.005015	0.33181	N	0.000000	0.998722	0.45339	D	0.805	0.20218	L	3.49	0.05071	T	-0.19	0.09965	N	0.134	0.13198	-0.7096	0.59972	T	0.006	0.01870	T	10	0.00542295	0.00119	T	0.016589	0.37919	T	0.085	0.24743	.	.	0.44318313171	0.43938	0.3568708772449162	0.35601	0.634268845006	0.57287	0.681673705578	0.64509	T	0.006876	0.06306	T	-0.467899	0.00876	T	-0.450739	0.27616	T	0.0370227934690009	0.03159	T	0.780822	0.41560	T	0.15056697	0.34271	0.21324982	0.45827	0.15056697	0.34270	0.21324982	0.45827	-3.056	0.10798	T	.	.	0.178	0.38782	B	.;.	.;.	2.784147	0.36579	20.3	0.81510298013693272	0.13721	0.69865	0.34358	D	AEFBCI	0.247420	0.36800	N	0.0393857772258344	0.43655	2.654243	0.101876411518386	0.44643	2.742195	0.999995624337189	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.26897	0.05253	2	0.636168	0.56350	0	.	.	4.09	4.09	0.47038	2.641000	0.46254	7.439000	0.58857	0.665000	0.62972	0.996000	0.39380	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	13.851	0.62994	616	0.66398	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002179	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1348.33	39	chr6	33315817	.	G	A	1348.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=831;ExcessHet=0;FS=0.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.15;ReadPosRankSum=0.965;SOR=0.818	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1362,0,969	18	0	1	0
chr6	33405054	33405054	T	C	exonic	KIFC1	.	nonsynonymous SNV	KIFC1:NM_002263:exon7:c.T959C:p.V320A	.	402	1105	13	2	0	17	0.00763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.00316937780823	0.0002	0.00199681	0.0010	9.649e-05	0.0006	0.0028	0	0.0007	0	0.0029	0.0009832	152	154602	rs149106445	0.0006	0.0006	0.0005	0.0007	0.0047	0.0006	0.0005	0.0033	0.0028	0.0001	0.0005	0.0038	0.0021	0	0.0047	0.0003	0.0011	0.0027	0.0004	0.0004	0.0004	0.0004	0.0031	0.0004	0.0003	0.0019	0.0015	4.81e-05	0	0.0004	0.0026	0.0014	0	0.0102	0.0003	0.0014	0.0031	0.13	0.26740	T	0.176	0.29843	T	0.016	0.17332	B	0.015	0.17295	B	0.016577	0.27944	N	0.371861	0.948109	0.37596	D	0.365	0.12025	N	1.0	0.41392	T	-1.82	0.42763	N	0.12	0.11054	-1.0574	0.12414	T	0.022	0.09330	T	10	0.008636802	0.00196	T	0.003169	0.06936	T	0.080	0.23350	.	.	0.504541157375	0.50091	0.4630334206756604	0.46222	0.481891860051	0.47163	0.637899279594	0.58265	T	0.036619	0.24171	T	-0.522888	0.00423	T	-0.528172	0.19469	T	0.00617480142371303	0.00068	T	.	.	.	0.103075996	0.24361	0.10514459	0.25270	0.103075996	0.24361	0.10514459	0.25269	-4.085	0.25068	T	.	.	0.097	0.15966	B	.	.	2.926918	0.38873	20.8	0.98247475137208662	0.39539	0.70780	0.34733	D	AEFDBCI	0.093667	0.18950	N	-0.314474572505403	0.28597	1.578677	-0.101325459073743	0.35337	2.043223	0.999978134242809	0.50053	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.43	4.26	0.49832	1.547000	0.35798	3.989000	0.40972	0.665000	0.62972	0.496000	0.26925	1.000000	0.68203	0.994000	0.71098	0.0:0.1839:0.0:0.8161	5.338	0.15274	366	0.84579	Kinesin motor domain|Kinesin motor domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002723	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2255.33	35	chr6	33405054	.	T	C	2255.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.05;DP=804;ExcessHet=0;FS=5.169;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.26;ReadPosRankSum=-0.95;SOR=1.007	GT:AD:DP:GQ:PL	0/1:95,89:184:99:2269,0,2285	18	0	1	0
chr6	34528877	34528877	G	C	exonic	PACSIN1	.	nonsynonymous SNV	PACSIN1:NM_001199583:exon4:c.G456C:p.E152D,PACSIN1:NM_020804:exon4:c.G456C:p.E152D	.	.	.	.	.	.	.	.	1.0000	0.978	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07143	96.17	69	chr6	34528877	.	G	C	96.17	.	AC=2;AF=0.071;AN=28;BaseQRankSum=-1.296;DP=1206;ExcessHet=0.119;FS=95.299;InbreedingCoeff=-0.1345;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=0.622;SOR=7.062	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,15:67:65:0|1:34528877_G_C:65,0,1729:34528877	12	0	2	5
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.;.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3929	1348.65	63	chr6	34528878	.	G	C	1348.65	.	AC=11;AF=0.393;AN=28;BaseQRankSum=-0.071;DP=1240;ExcessHet=8.9063;FS=128.695;InbreedingCoeff=-0.5447;MLEAC=13;MLEAF=0.464;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=0.798;SOR=10.678	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:52,15:67:65:0|1:34528877_G_C:65,0,1729:34528877	3	0	11	5
chr6	36291365	36291365	A	G	exonic	PNPLA1	.	nonsynonymous SNV	PNPLA1:NM_001145717:exon2:c.A251G:p.K84R,PNPLA1:NM_001374623:exon2:c.A251G:p.K84R	Ichthyosis, congenital, autosomal recessive 10, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	228.34	35	chr6	36291365	.	A	G	228.34	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.405;DP=1032;ExcessHet=0;FS=85.583;InbreedingCoeff=-0.0276;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.7;SOR=6.891	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:140,19:159:99:0|1:36291365_A_G:242,0,5590:36291365	18	0	1	0
chr6	37284381	37284381	C	T	exonic	TBC1D22B	.	nonsynonymous SNV	TBC1D22B:NM_017772:exon6:c.C718T:p.R240W	.	.	.	.	.	.	.	.	.	.	.	2375923	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.406	0.126932106778	.	.	8.257e-06	0	0	0	0	1.501e-05	0	0	6.5e-06	1	154602	rs751520700	7.529e-06	7.524e-06	9.535e-06	5.503e-06	1.161e-05	4.04e-06	2.95e-06	3.81e-06	2.76e-06	0	0	0	0	0	0	8.095e-06	1.657e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.5	0.92762	M	2.7	0.12162	T	-7.3	0.94484	D	0.81	0.80572	-0.6318	0.63494	T	0.105	0.38562	T	10	0.805194	0.79867	D	0.126932	0.80867	D	0.406	0.71869	0.558	0.67684	0.784233792205	0.78223	0.7696648650756733	0.76915	1.6632084262	0.89711	0.822982311249	0.85485	D	0.400282	0.75790	T	0.174313	0.71518	D	0.0126119	0.71151	D	0.968269999533102	0.68184	D	0.996	0.98587	D	0.8140187	0.84820	0.67972904	0.81183	0.8140187	0.84821	0.67972904	0.81184	-11.71	0.83410	D	.	.	0.926	0.84689	P	.	.	4.888513	0.80238	27.3	0.99917729553936363	0.98518	0.88218	0.48048	D	AEFBI	0.496045	0.53116	N	0.510469416934911	0.67705	5.117717	0.36514936782804	0.59426	4.120226	0.658748262549821	0.22247	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.95	0.448	0.15824	0.212000	0.17289	2.205000	0.31320	0.599000	0.40250	0.985000	0.35982	1.000000	0.68203	0.998000	0.85391	0.5679:0.4321:0.0:0.0	15.668	0.77002	709	0.56835	Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2044.33	36	chr6	37284381	.	C	T	2044.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.37;DP=742;ExcessHet=0;FS=3.607;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.9;ReadPosRankSum=0.757;SOR=1.101	GT:AD:DP:GQ:PL	0/1:42,79:121:99:2058,0,820	18	0	1	0
chr6	37390764	37390764	G	A	exonic	RNF8	.	nonsynonymous SNV	RNF8:NM_183078:exon7:c.G1259A:p.R420H	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.00100551078692	7.7e-05	0.000399361	2.473e-05	0	0	0	0	1.5e-05	0	0.0001	3.88e-05	6	154602	rs149383616	3.353e-05	3.625e-05	2.86e-05	3.851e-05	0.0009	2.567e-05	2.312e-05	0.0003	0.0002	0	0	0	0	0	0.0009	2.339e-05	6.626e-05	0.0002	6.567e-05	6.562e-05	8.995e-05	4.029e-05	0.0002	3.515e-05	2.615e-05	3.763e-05	2.575e-05	4.812e-05	0	0	0	0.0002	0	0	8.822e-05	0	0.0002	0.289	0.15047	T	0.413	0.14412	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	0.74	0.50459	T	2.35	0.00275	N	0.117	0.10626	-0.9694	0.37324	T	0.040	0.17106	T	6	0.037265718	0.02071	T	0.001006	0.01073	T	0.045	0.12272	.	.	0.346610688518	0.34274	.	.	.	.	.	.	.	.	.	.	-0.427433	0.01536	T	-0.615086	0.11575	T	0.0242274979422406	0.01173	T	0.359064	0.08235	T	.	.	.	.	.	.	.	.	-0.89	0.00886	T	.	.	0.076	0.06024	B	.	.	-0.793086	0.01120	0.051	0.93701735284392162	0.23613	0.00365	0.01864	N	AEFDBI	0.017416	0.00455	N	-1.19906809787613	0.05014	0.2276249	-1.42473961435914	0.03006	0.1394304	0.792881667662761	0.24046	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.58	-6.67	0.01618	-1.243000	0.03015	-0.102000	0.11930	-1.361000	0.01181	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.288:0.1335:0.4483:0.1303	3.506	0.07251	740	0.53092	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02632	684.33	34	chr6	37390764	.	G	A	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=728;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=-1.599;SOR=0.756	GT:AD:DP:GQ:PL	0/1:56,28:84:99:698,0,1451	18	0	1	0
chr6	42107169	42107169	C	T	exonic	C6orf132	.	nonsynonymous SNV	C6orf132:NM_001164446:exon4:c.G743A:p.R248H	.	432	1085	5	0	0	5	0.00229885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00675561262423	.	.	0	0	0	0	0	0	0	0	0.0005379	14	26028	rs755603011	0.0010	0.0009	0.0010	0.0010	0.0019	0.0010	0.0010	0.0011	0.0011	0.0001	0.0009	0.0004	0	6.553e-05	0.0019	0.0012	0.0007	0.0004	0.0008	0.0009	0.0008	0.0009	0.0012	0.0007	0.0007	0.0010	0.0009	0.0003	0	0.0012	0.0006	0.0002	0.0001	0.0035	0.0012	0.0030	0.0005	0.136	0.26085	T	0.143	0.33219	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.315	0.10303	N	0.76	0.49919	T	-1.33	0.33197	N	0.032	0.00825	-1.0048	0.28517	T	0.019	0.08079	T	7	0.016800225	0.00356	T	0.006756	0.17840	T	0.006	0.00375	.	.	0.0138822411134	0.00435	0.06859667622863035	0.06797	.	.	.	.	.	0.050921	0.28731	T	-0.603568	0.00139	T	-0.669839	0.07618	T	0.00702890987105475	0.00080	T	0.384162	0.09403	T	0.024674643	0.01323	0.030097902	0.01424	0.024674643	0.01323	0.030097902	0.01424	-5.106	0.37971	T	.	.	0.079	0.07272	B	.	.	-0.759526	0.01189	0.058	0.65139694243992496	0.07689	0.00628	0.02764	N	AEFDBI	0.037416	0.05142	N	-1.33381318416161	0.03296	0.1469735	-1.54067789956866	0.02040	0.09328102	0.999969972087992	0.48965	0.695654	0.57023	0	0.547309	0.14657	0	0.723109	0.80598	0	0.562822	0.20929	0	.	.	3.54	-7.09	0.01399	-1.656000	0.02083	-11.991000	0.00559	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.042000	0.14466	0.1311:0.3209:0.0:0.548	5.999	0.18740	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	0.001980	0.000000	0.000000	0.008264	0.000000	0.000000	0.000000	0.000000	0.02632	812.33	38	chr6	42107169	.	C	T	812.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.68;DP=706;ExcessHet=0;FS=3.135;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.55;ReadPosRankSum=1.53;SOR=0.379	GT:AD:DP:GQ:PL	0/1:43,34:77:99:826,0,953	18	0	1	0
chr6	44229406	44229406	C	T	exonic	SLC29A1	.	nonsynonymous SNV	SLC29A1:NM_001304465:exon3:c.C124T:p.L42F,SLC29A1:NM_001304466:exon3:c.C121T:p.L41F,SLC29A1:NM_001372327:exon3:c.C46T:p.L16F,SLC29A1:NM_001078175:exon4:c.C46T:p.L16F,SLC29A1:NM_001078177:exon4:c.C46T:p.L16F,SLC29A1:NM_001304462:exon4:c.C283T:p.L95F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199	0.0270842663741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.194	0.20835	T	0.239	0.24477	T	0.722	0.42387	P	0.21	0.37304	B	0.000291	0.46274	D	0.141721	0.992018	0.41532	D	1.12	0.28775	L	-0.64	0.72125	T	-1.54	0.37375	N	0.57	0.59563	-0.8125	0.54399	T	0.190	0.54108	T	10	0.2805399	0.45630	T	0.027084	0.49938	D	0.199	0.48268	.	.	0.289027227714	0.28505	.	.	0.314550106018	0.33734	0.57654607296	0.49599	T	0.247412	0.61705	T	-0.0159197	0.49434	T	-0.260644	0.48761	T	0.780354142189026	0.45072	D	0.80002	0.44873	T	0.25879025	0.48930	0.16195175	0.37644	0.25879025	0.48930	0.16195175	0.37643	-6.311	0.48809	T	0.2968931265094968	0.39397	0.101	0.35477	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	3.476885	0.48538	22.6	0.99733818646622996	0.82975	0.86155	0.45383	D	AEFBI	0.483729	0.52405	N	0.104427770763267	0.46670	2.903757	0.164691005738116	0.47925	3.015602	0.999980561748904	0.51787	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.34	4.45	0.53365	1.246000	0.32405	1.800000	0.28874	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.1479:0.7746:0.0:0.0775	8.891	0.34594	794	0.45591	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	653.84	109	chr6	44229406	.	C	T	653.84	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-2.959;DP=1754;ExcessHet=4.0268;FS=181.44;InbreedingCoeff=-0.3334;MLEAC=9;MLEAF=0.281;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=0.762;SOR=9.869	GT:AD:DP:GQ:PL	0/1:77,32:114:99:102,0,1284	8	0	8	3
chr6	44305114	44305114	C	G	exonic	AARS2	.	nonsynonymous SNV	AARS2:NM_020745:exon11:c.G1519C:p.V507L	Combined oxidative phosphorylation deficiency 8, Autosomal recessive;Leukoencephalopathy, progressive, with ovarian failure, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	266175	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.040	0.0118770163491	.	0.000399361	3.296e-05	0	0	0.0003	0	1.5e-05	0	0	3.88e-05	6	154602	rs182596701	5.473e-06	5.472e-06	2.723e-06	8.251e-06	0.0002	2.35e-06	1.7e-06	8.198e-05	5.784e-05	0	0	0	0.0002	0	0	8.993e-07	0	0	2.626e-05	2.624e-05	1.285e-05	4.027e-05	0.0008	8.14e-06	5.14e-06	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0	0.321	0.13522	T	0.231	0.25061	T	0.018	0.17786	B	0.039	0.23607	B	0.003754	0.34535	N	0.277539	0.955672	0.81001	D	1.32	0.33002	L	-0.1	0.64264	T	-1.74	0.41239	N	0.095	0.07535	-1.0838	0.06628	T	0.072	0.29098	T	10	0.020444691	0.00471	T	0.011877	0.29939	T	0.040	0.10527	0.45	0.51121	0.524584940466	0.52104	0.5340116045202374	0.53326	0.235666090612	0.26095	0.332209199667	0.15268	T	0.125078	0.45055	T	-0.430707	0.01468	T	-0.536448	0.18647	T	0.0508620247647817	0.05651	T	0.848015	0.52922	T	0.046427928	0.07767	0.05191496	0.08450	0.046427928	0.07767	0.05191496	0.08450	-3.38	0.14788	T	.	.	0.109	0.20934	B	.	.	1.034402	0.14145	10.72	0.96221837557056111	0.29088	0.12682	0.17416	N	AEFDGBHCI	0.202684	0.32926	N	-0.607302768717073	0.18723	0.9743992	-0.549154972637436	0.20829	1.123982	0.999999978194986	0.74766	0.712529	0.81865	0	0.702456	0.74545	0	0.67197	0.60751	0	0.691587	0.68394	0	.	.	5.01	0.986	0.18902	0.061000	0.14242	0.428000	0.18294	0.580000	0.29708	0.002000	0.15269	0.094000	0.22579	0.881000	0.42162	0.0:0.5324:0.2498:0.2178	6.241	0.20000	803	0.44167	Alanyl-tRNA synthetase, class IIc, N-terminal|Alanyl-tRNA synthetase, class IIc, core domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	929.33	35	chr6	44305114	.	C	G	929.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.034;DP=730;ExcessHet=0;FS=1.685;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.89;ReadPosRankSum=-0.034;SOR=0.664	GT:AD:DP:GQ:PL	0/1:52,42:94:99:943,0,1240	18	0	1	0
chr6	46689536	46689536	G	A	exonic	TDRD6	.	nonsynonymous SNV	TDRD6:NM_001010870:exon1:c.G1408A:p.D470N,TDRD6:NM_001168359:exon1:c.G1408A:p.D470N	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.109	.	7.7e-05	0.0153754	0.0059	0.0002	0	0.0768	0	5.996e-05	0.0033	0.0023	0.0054721	846	154602	rs142765925	0.0018	0.0018	0.0018	0.0018	0.0494	0.0017	0.0017	0.0476	0.0469	0.0002	8.944e-05	0.0002	0.0494	0	0.0002	4.137e-05	0.0053	0.0029	0.0031	0.0031	0.0028	0.0033	0.0733	0.0028	0.0027	0.0672	0.0648	0.0003	0	0.0012	0.0012	0.0733	0	0	0.0001	0.0043	0.0071	0.059	0.37536	T	0.11	0.37449	T	0.839	0.46454	P	0.205	0.37080	B	0.140009	0.18323	N	0.591327	1	0.08975	N	1.59	0.40313	L	2.47	0.14783	T	-0.64	0.18670	N	0.176	0.18920	-1.0048	0.28517	T	0.013	0.05321	T	10	0.0025939047	0.00040	T	.	.	.	0.109	0.30843	.	.	0.527356302626	0.52384	0.2332353423243683	0.23238	0.0514255740683	0.05660	0.302000582218	0.10699	T	0.048007	0.27891	T	-0.737276	0.00022	T	-0.765879	0.02906	T	0.0391045540544767	0.03528	T	0.813419	0.46649	T	0.080301896	0.18392	0.07138637	0.15281	0.080301896	0.18391	0.07138637	0.15281	-4.16	0.26170	T	.	.	0.083	0.09143	B	.;.	.;.	2.691980	0.35142	19.82	0.99470250869973698	0.66312	0.30886	0.24197	N	AEFDBI	0.171086	0.29803	N	-0.0934038008132409	0.37680	2.195812	-0.0587741419455164	0.37112	2.168697	0.966806520581125	0.28930	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.82	5.82	0.92740	3.024000	0.49358	5.742000	0.49579	0.676000	0.76740	0.327000	0.25564	1.000000	0.68203	0.923000	0.45890	0.0:0.0:0.8337:0.1663	12.537	0.55492	513	0.74941	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2500.33	85	chr6	46689536	.	G	A	2500.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.66;DP=1883;ExcessHet=0;FS=1.134;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=2.29;SOR=0.595	GT:AD:DP:GQ:PL	0/1:94,93:187:99:2514,0,2725	18	0	1	0
chr6	47010050	47010050	C	G	exonic	ADGRF1	.	nonsynonymous SNV	ADGRF1:NM_153840:exon11:c.G1385C:p.G462A	.	430	1064	27	1	0	29	0.0134446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.158	0.0148596975298	0.0058	0.00159744	0.0040	0.0006	0.0011	0	0.0006	0.0064	0.0033	0.0021	0.0041203	637	154602	rs45461593	0.0054	0.0054	0.0055	0.0054	0.0158	0.0053	0.0053	0.0132	0.0122	0.0007	0.0023	0.0099	0	0.0005	0.0158	0.0062	0.0054	0.0032	0.0044	0.0044	0.0048	0.0039	0.0068	0.0041	0.0040	0.0063	0.0061	0.0016	0.0121	0.0041	0.0095	0.0002	0.0004	0.0102	0.0068	0.0057	0.0017	0.005	0.68238	D	0.143	0.39492	T	0.618	0.39878	P	0.101	0.30765	B	0.000886	0.41231	D	0.108197	0.928347	0.36892	D	.	.	.	1.35	0.34841	T	-5.13	0.83224	D	0.14	0.15469	-1.0658	0.10362	T	0.053	0.22539	T	10	0.003125757	0.00052	T	0.01486	0.35248	T	0.158	0.41098	.	.	0.252162846088	0.24830	0.5626145801708726	0.56188	0.0811084518359	0.09126	0.352576434612	0.18300	T	0.067042	0.37257	T	-0.490778	0.00643	T	-0.474995	0.24980	T	0.0738526429195159	0.09182	T	0.714229	0.32652	T	0.47816974	0.65789	0.45515832	0.68323	0.47816974	0.65790	0.45515832	0.68324	-4.273	0.27797	T	.	.	0.151	0.33342	B	.;.	.;.	1.918867	0.24368	16.37	0.99546258656753994	0.70836	0.55949	0.29993	D	AEFBCI	0.209860	0.33580	N	-0.229438254843676	0.31931	1.795477	-0.2679141333085	0.29162	1.63163	0.834347638524773	0.24750	0.525926	0.21836	0	0.59043	0.45803	0	0.615948	0.41167	0	0.584449	0.35598	0	.	.	5.2	4.32	0.50899	0.892000	0.27957	2.219000	0.31434	0.587000	0.30956	0.004000	0.16614	0.440000	0.24899	0.798000	0.37648	0.0:0.8659:0.1341:0.0	16.104	0.81014	810	0.42761	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008560	0.005051	0.009511	0.008772	0.050000	0.017241	0.003049	0.007576	0.07895	6477.79	34	chr6	47010050	.	C	G	6477.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.294;DP=1162;ExcessHet=0.3672;FS=0.525;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=-0.15;SOR=0.735	GT:AD:DP:GQ:PL	0/1:102,94:196:99:2402,0,2603	16	0	3	0
chr6	70234894	70234894	C	G	exonic	COL9A1	.	nonsynonymous SNV	COL9A1:NM_078485:exon28:c.G1430C:p.R477P,COL9A1:NM_001377289:exon29:c.G1460C:p.R487P,COL9A1:NM_001851:exon34:c.G2159C:p.R720P	Stickler syndrome, type IV	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.561	0.143473125126	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.346	0.17696	T	0.999	0.77913	D	0.987	0.77487	D	0.000002	0.62929	D	0.060728	1	0.81001	D	-0.53	0.02533	N	-1.76	0.83578	D	-2.88	0.60507	D	0.659	0.67995	-0.2824	0.75475	T	0.345	0.71012	T	10	0.78262323	0.77981	D	0.143473	0.82579	D	0.561	0.82003	0.467	0.53891	0.912420511958	0.91153	0.6657395501328037	0.66510	0.491154891297	0.47813	0.670825362206	0.62956	T	0.504345	0.82347	D	0.157477	0.69966	D	-0.0115717	0.69583	D	0.981120765209198	0.73735	D	0.838016	0.51077	T	0.59302646	0.72315	0.6458173	0.79292	0.59302646	0.72316	0.6458173	0.79293	-3.567	0.17381	T	.	.	0.294	0.52500	B	.;.	.;.	4.196750	0.63292	24.6	0.99109464510274503	0.52674	0.99022	0.90087	D	AEFBI	0.975820	0.99640	D	0.205129814946803	0.51446	3.325891	0.288855276159954	0.54887	3.652603	0.996807278208412	0.35023	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.74	4.87	0.62877	7.822000	0.84804	4.001000	0.41074	0.544000	0.25403	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.9303:0.0:0.0697	14.648	0.68381	781	0.47532	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	75.33	41	chr6	70234894	.	C	G	75.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.346;DP=831;ExcessHet=0;FS=75.896;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=1.28;ReadPosRankSum=0.724;SOR=6.439	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:48,11:59:89:0|1:70234894_C_G:89,0,1899:70234894	18	0	1	0
chr6	73500589	73500589	C	A	exonic	MTO1	.	nonsynonymous SNV	MTO1:NM_012123:exon12:c.C1933A:p.R645S,MTO1:NM_001123226:exon13:c.C2053A:p.R685S,MTO1:NM_133645:exon13:c.C2008A:p.R670S	Combined oxidative phosphorylation deficiency 10, Autosomal recessive	2	1516	4	0	0	4	0.00131752	.	.	YES	389130	not_provided|Mitochondrial_hypertrophic_cardiomyopathy_with_lactic_acidosis_due_to_MTO1_deficiency|Abnormal_brain_morphology	MedGen:C3661900|MONDO:MONDO:0013865,MedGen:C4749921,OMIM:614702,Orphanet:314637|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.694	0.024494916297	.	.	4.963e-05	0	0	0	0	1.503e-05	0.0011	0.0002	3.88e-05	6	154602	rs746382157	3.287e-05	3.489e-05	2.044e-05	4.543e-05	0.0004	2.546e-05	2.251e-05	0.0003	0.0003	0	0	0	0	0	0.0003	6.298e-06	4.972e-05	0.0004	6.573e-06	6.568e-06	0	1.346e-05	6.553e-05	0	0	.	.	0	0	6.553e-05	0	0	0	0	0	0	0	0.014	0.78490	D	0.01	0.83351	D	1.0	0.90584	D	0.987	0.80445	D	0.000000	0.84330	D	0.000000	0.999998	0.81001	D	4.045	0.97016	H	.	.	.	-5.2	0.83695	D	0.756	0.87590	0.267	0.87016	D	0.544	0.83222	D	9	0.8349378	0.82651	D	0.024495	0.47488	T	0.694	0.88913	0.697	0.83406	0.881788646564	0.88063	0.8676891127275673	0.86733	0.939492545994	0.72166	0.608762145042	0.54140	T	0.627462	0.88409	D	0.254789	0.79048	D	0.420359	0.92755	D	0.974554538726807	0.70557	D	0.937606	0.99955	D	0.90945464	0.92244	0.83927643	0.90790	0.88609356	0.90176	0.85342854	0.91734	-11.166	0.80561	D	0.3926865676295587	0.48565	0.880	0.86921	P	.;.;.;.	.;.;.;.	5.264390	0.88397	29.6	0.99823969153537084	0.90677	0.94468	0.61262	D	AEFBI	0.644235	0.62056	D	0.859838627434628	0.89662	10.06419	0.79329861882849	0.89325	9.928327	0.783038553029033	0.23879	0.706548	0.73137	0	0.615513	0.52658	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.48	5.48	0.80675	4.742000	0.61798	7.493000	0.59393	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.108	0.86544	909	0.22467	.;.;.;GidA associated domain 3	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	953.33	33	chr6	73500589	.	C	A	953.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.504;DP=691;ExcessHet=0;FS=3.125;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.77;ReadPosRankSum=0.213;SOR=1.067	GT:AD:DP:GQ:PL	0/1:42,39:81:99:967,0,1023	18	0	1	0
chr6	80007990	80007990	G	C	exonic	TTK	.	nonsynonymous SNV	TTK:NM_001166691:exon3:c.G321C:p.E107D,TTK:NM_003318:exon3:c.G321C:p.E107D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.607	0.126467273608	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	8.893e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.035	0.92824	D	0.999	0.77913	D	0.993	0.81110	D	0.000000	0.84330	D	0.000000	0.938546	0.37229	D	2.62	0.76659	M	-2.54	0.89496	D	-1.53	0.56787	N	0.406	0.46649	0.480	0.90261	D	0.698	0.89595	D	10	0.39968592	0.55478	T	0.126467	0.80813	D	0.607	0.84559	0.377	0.39156	0.756102065754	0.75388	0.29326060996924297	0.29239	0.586303879314	0.54233	0.593461692333	0.51983	T	0.093775	0.51827	T	0.153432	0.69590	D	-0.0173821	0.69202	D	0.93341064453125	0.60015	D	0.887811	0.64303	D	0.7694828	0.82017	0.34171048	0.59907	0.7694828	0.82018	0.34171048	0.59906	-9.025	0.67858	D	.	.	0.446	0.62023	A	.;.;.;.;.;.	.;.;.;.;.;.	4.273798	0.65043	24.8	0.99838627551170323	0.91972	0.91788	0.54264	D	AEFBI	0.340775	0.43748	N	0.324956302953043	0.57431	3.910505	0.282171109977361	0.54497	3.614648	0.999919670358034	0.45857	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.613276	0.41899	0	.	.	5.66	2.91	0.32903	2.081000	0.41220	5.042000	0.46920	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.2117:0.0:0.7883:0.0	11.092	0.47344	827	0.39843	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3571	8032.55	22	chr6	80007990	.	G	C	8032.55	.	AC=10;AF=0.357;AN=28;BaseQRankSum=-2.203;DP=910;ExcessHet=8.9063;FS=213.455;InbreedingCoeff=-0.5526;MLEAC=12;MLEAF=0.429;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=0.928;SOR=11.106	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,27:57:99:0|1:80007990_G_C:870,0,1164:80007990	4	0	10	5
chr6	80007992	80007996	GTTTT	-	exonic	TTK	.	stopgain	TTK:NM_001166691:exon3:c.323_327del:p.F109*,TTK:NM_003318:exon3:c.323_327del:p.F109*	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0020	0.0005	0.0004	0.0005	0.0004	0.0004	0.0005	0.0005	0.0004	2.242e-05	0.0001	0.0001	0	0	0.0005	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	7038.11	53	chr6	80007991	.	AGTTTT	A	7038.11	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.306;DP=1098;ExcessHet=8.9063;FS=201.643;InbreedingCoeff=-0.4074;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=11.44;ReadPosRankSum=0.705;SOR=11.067	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:30,28:58:99:0|1:80007990_G_C:886,0,1161:80007990	15	0	4	0
chr6	80007992	80007992	G	0	exonic	TTK	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4583	394.98	21	chr6	80007992	.	G	*	394.98	.	AC=11;AF=0.458;AN=24;BaseQRankSum=0.548;DP=887;ExcessHet=22.5857;FS=247.209;InbreedingCoeff=-0.5703;MLEAC=15;MLEAF=0.625;MQ=60;MQRankSum=0;QD=0.62;ReadPosRankSum=1.65;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,27:56:99:1|0:80007990_G_C:957,0,1126:80007990	1	0	11	7
chr6	80007996	80007996	-	CCCCC	exonic	TTK	.	frameshift insertion	TTK:NM_001166691:exon3:c.327_328insCCCCC:p.A110Pfs*7,TTK:NM_003318:exon3:c.327_328insCCCCC:p.A110Pfs*7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1818	2295.91	21	chr6	80007996	.	T	TCCCCC	2295.91	.	AC=4;AF=0.182;AN=22;BaseQRankSum=-0.62;DP=836;ExcessHet=2.6804;FS=364.496;InbreedingCoeff=-0.2035;MLEAC=6;MLEAF=0.273;MQ=60;MQRankSum=0;QD=7.27;ReadPosRankSum=0.99;SOR=9.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,27:55:99:0|1:80007990_G_C:850,0,1088:80007990	7	0	4	8
chr6	83352101	83352101	G	C	exonic	ME1	.	nonsynonymous SNV	ME1:NM_002395:exon4:c.C401G:p.A134G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0174298839709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0039	0.0008	0.0007	0.0009	0.0007	0.0007	0.0008	0.0008	0.0007	4.803e-05	0.0001	0.0001	4.058e-05	0.0008	0.0009	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.421	0.14075	T	0.121	0.26708	B	0.092	0.30031	B	0.020936	0.26936	N	0.457490	0.999111	0.81001	D	1.465	0.36909	L	0.93	0.44065	T	-1.58	0.38151	N	0.549	0.57518	-1.0932	0.05020	T	0.052	0.22114	T	10	0.39324778	0.55043	T	0.01743	0.39125	T	0.071	0.20720	0.433	0.48336	0.590228304998	0.58699	0.7456373293965067	0.74509	0.0422964412412	0.04561	0.445081591606	0.31272	T	0.185202	0.53810	T	-0.145968	0.28945	T	-0.44745	0.27978	T	0.611459136009216	0.36859	D	0.89921	0.64678	D	0.2825711	0.51294	0.16329293	0.37888	0.2825711	0.51294	0.16329293	0.37887	-6.758	0.52246	T	.	.	0.112	0.22061	B	.	.	2.730338	0.35734	19.98	0.96542643590327337	0.30193	0.96966	0.71921	D	AEFI	0.728759	0.67668	D	-0.180866953640128	0.33931	1.930802	-0.064166871410528	0.36883	2.152253	0.974719722080506	0.29567	0.706298	0.61202	0	0.633656	0.55848	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.76	4.88	0.63131	3.794000	0.55196	7.350000	0.58291	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.194000	0.21720	0.0:0.1371:0.8629:0.0	15.707	0.77352	746	0.52331	Malic enzyme, N-terminal domain|Malic enzyme, N-terminal domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1176	54.35	16	chr6	83352101	.	G	C	54.35	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-1.283;DP=657;ExcessHet=0.8031;FS=445.697;InbreedingCoeff=-0.1432;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=0.38;ReadPosRankSum=0.51;SOR=9.149	GT:AD:DP:GQ:PL	0/1:24,10:34:5:5,0,314	13	0	4	2
chr6	83556226	83556226	G	T	exonic	SNAP91	.	nonsynonymous SNV	SNAP91:NM_001242794:exon19:c.C1730A:p.P577H,SNAP91:NM_001376739:exon20:c.C1898A:p.P633H,SNAP91:NM_001376738:exon21:c.C1940A:p.P647H,SNAP91:NM_001376733:exon25:c.C2462A:p.P821H,SNAP91:NM_001376734:exon25:c.C2462A:p.P821H,SNAP91:NM_001376736:exon25:c.C2441A:p.P814H,SNAP91:NM_001376716:exon26:c.C2525A:p.P842H,SNAP91:NM_001376717:exon26:c.C2510A:p.P837H,SNAP91:NM_001376718:exon26:c.C2495A:p.P832H,SNAP91:NM_001376719:exon26:c.C2483A:p.P828H,SNAP91:NM_001376731:exon26:c.C2468A:p.P823H,SNAP91:NM_001242793:exon27:c.C2561A:p.P854H,SNAP91:NM_001256718:exon27:c.C2279A:p.P760H,SNAP91:NM_001376687:exon27:c.C2630A:p.P877H,SNAP91:NM_001376695:exon27:c.C2603A:p.P868H,SNAP91:NM_001376696:exon27:c.C2603A:p.P868H,SNAP91:NM_001376697:exon27:c.C2603A:p.P868H,SNAP91:NM_001376698:exon27:c.C2603A:p.P868H,SNAP91:NM_001376701:exon27:c.C2588A:p.P863H,SNAP91:NM_001376702:exon27:c.C2567A:p.P856H,SNAP91:NM_001376703:exon27:c.C2567A:p.P856H,SNAP91:NM_001376704:exon27:c.C2567A:p.P856H,SNAP91:NM_001376705:exon27:c.C2567A:p.P856H,SNAP91:NM_001376706:exon27:c.C2567A:p.P856H,SNAP91:NM_001376707:exon27:c.C2567A:p.P856H,SNAP91:NM_001376708:exon27:c.C2561A:p.P854H,SNAP91:NM_001376709:exon27:c.C2561A:p.P854H,SNAP91:NM_001376710:exon27:c.C2561A:p.P854H,SNAP91:NM_001376711:exon27:c.C2561A:p.P854H,SNAP91:NM_001376713:exon27:c.C2552A:p.P851H,SNAP91:NM_001376714:exon27:c.C2552A:p.P851H,SNAP91:NM_001376728:exon27:c.C2471A:p.P824H,SNAP91:NM_001242792:exon28:c.C2651A:p.P884H,SNAP91:NM_001363677:exon28:c.C2636A:p.P879H,SNAP91:NM_001376675:exon28:c.C2645A:p.P882H,SNAP91:NM_001376676:exon28:c.C2645A:p.P882H,SNAP91:NM_001376677:exon28:c.C2645A:p.P882H,SNAP91:NM_001376678:exon28:c.C2645A:p.P882H,SNAP91:NM_001376679:exon28:c.C2645A:p.P882H,SNAP91:NM_001376680:exon28:c.C2645A:p.P882H,SNAP91:NM_001376681:exon28:c.C2645A:p.P882H,SNAP91:NM_001376682:exon28:c.C2645A:p.P882H,SNAP91:NM_001376683:exon28:c.C2642A:p.P881H,SNAP91:NM_001376684:exon28:c.C2642A:p.P881H,SNAP91:NM_001376685:exon28:c.C2630A:p.P877H,SNAP91:NM_001376686:exon28:c.C2630A:p.P877H,SNAP91:NM_001376688:exon28:c.C2630A:p.P877H,SNAP91:NM_001376689:exon28:c.C2630A:p.P877H,SNAP91:NM_001376690:exon28:c.C2630A:p.P877H,SNAP91:NM_001376691:exon28:c.C2630A:p.P877H,SNAP91:NM_001376692:exon28:c.C2630A:p.P877H,SNAP91:NM_001376693:exon28:c.C2624A:p.P875H,SNAP91:NM_001376694:exon28:c.C2621A:p.P874H,SNAP91:NM_001376699:exon28:c.C2600A:p.P867H,SNAP91:NM_001376700:exon28:c.C2600A:p.P867H,SNAP91:NM_001376723:exon28:c.C2471A:p.P824H,SNAP91:NM_001376726:exon28:c.C2471A:p.P824H,SNAP91:NM_014841:exon28:c.C2651A:p.P884H,SNAP91:NM_001256717:exon29:c.C2378A:p.P793H,SNAP91:NM_001376715:exon29:c.C2537A:p.P846H,SNAP91:NM_001376720:exon29:c.C2471A:p.P824H,SNAP91:NM_001376721:exon29:c.C2471A:p.P824H,SNAP91:NM_001376735:exon29:c.C2456A:p.P819H	.	.	.	.	.	.	.	.	.	.	.	2778853	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.218	0.024804702198	.	.	3.36e-05	0	0	0	0	7.057e-05	0	0	1.94e-05	3	154602	rs774229973	4.089e-05	4.925e-05	3.906e-05	4.277e-05	4.867e-05	3.208e-05	2.934e-05	3.796e-05	3.442e-05	0	2.616e-05	0	0	0	0	4.867e-05	6.812e-05	0	1.326e-05	1.316e-05	1.293e-05	1.36e-05	2.949e-05	2.2e-06	8.3e-07	4.89e-06	1.83e-06	0	0	0	0	0	0	0	2.949e-05	0	0	0.0	0.91255	D	0.002	0.83351	D	0.999	0.90584	D	0.936	0.86255	D	0.000023	0.55875	D	0.119134	0.999933	0.51612	D	2.36	0.67893	M	1.78	0.26445	T	-2.21	0.49684	N	0.623	0.63798	-1.0024	0.29226	T	0.117	0.41165	T	10	0.4859947	0.60711	T	0.024805	0.47795	T	0.218	0.51265	.	.	0.340432005269	0.33650	0.2505951909950214	0.24973	0.607625513017	0.55570	0.744508087635	0.73636	T	0.028636	0.41409	T	-0.018208	0.49108	T	-0.263931	0.48430	T	0.449702351948695	0.30786	T	0.90041	0.75281	D	0.5151932	0.67982	0.55889183	0.74481	0.5151932	0.67983	0.55889183	0.74481	-10.155	0.74835	D	.	.	0.394	0.59251	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	5.415883	0.90635	31	0.9951425478880529	0.68799	0.96636	0.70140	D	AEFBI	0.926332	0.90727	D	0.812706337243854	0.86895	9.034294	0.804751948697162	0.90121	10.26571	0.900943010763535	0.26088	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	5.54	5.54	0.82907	8.602000	0.90650	11.833000	0.97585	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	19.089	0.93200	748	0.52143	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1330.33	33	chr6	83556226	.	G	T	1330.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.345;DP=727;ExcessHet=0;FS=1.496;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=-1.335;SOR=0.523	GT:AD:DP:GQ:PL	0/1:60,56:116:99:1344,0,1419	18	0	1	0
chr6	87418396	87418396	G	C	exonic	CFAP206	.	nonsynonymous SNV	CFAP206:NM_001031743:exon7:c.G820C:p.V274L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.026	0.0107427859896	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.513e-05	0.0003	1.917e-05	1.106e-05	1.991e-05	9.91e-06	8.46e-06	1.304e-05	1.113e-05	0	0	0	0	0	0	1.991e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.328	0.13219	T	0.343	0.17857	T	0.02	0.18235	B	0.032	0.22131	B	0.098836	0.19962	N	0.536219	0.999595	0.20909	N	.	.	.	1.55	0.29866	T	-0.84	0.22944	N	0.136	0.13341	-0.9845	0.33951	T	0.016	0.06711	T	10	0.103265375	0.18974	T	0.010743	0.27620	T	0.026	0.05648	0.395	0.42099	0.0954503805726	0.09146	0.19020201639342502	0.18938	0.19954006279	0.22355	.	.	.	0.119676	0.44138	T	-0.336867	0.05608	T	-0.721662	0.04715	T	0.0796661600470543	0.09943	T	0.69863	0.30863	T	0.034879714	0.04001	0.093172565	0.21994	0.034879714	0.04001	0.093172565	0.21993	-3.521	0.16727	T	.	.	0.158	0.34949	B	.	.	0.840487	0.12120	8.673	0.80669705967739813	0.13312	0.64434	0.32406	D	AEFI	0.131428	0.25036	N	-0.974096222241832	0.09159	0.4323572	-0.954286185025139	0.10824	0.5476554	0.0029963270333614	0.09855	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.586402	0.36253	0	.	.	5.16	-6.98	0.01454	0.167000	0.16419	0.396000	0.17945	-0.241000	0.07509	0.882000	0.31029	0.767000	0.26670	0.976000	0.56436	0.1402:0.1105:0.6398:0.1095	8.727	0.33637	819	0.41190	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3	996.02	46	chr6	87418396	.	G	C	996.02	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.179;DP=1225;ExcessHet=5.3738;FS=245.846;InbreedingCoeff=-0.41;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=1.64;ReadPosRankSum=1.97;SOR=11.473	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:30,19:49:83:.:.:83,0,403:.	6	0	9	4
chr6	89862497	89862497	G	A	exonic	CASP8AP2	.	nonsynonymous SNV	CASP8AP2:NM_001137667:exon7:c.G788A:p.R263Q,CASP8AP2:NM_001137668:exon7:c.G788A:p.R263Q,CASP8AP2:NM_012115:exon7:c.G788A:p.R263Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.348e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs200917530	2.139e-05	1.779e-05	2.121e-05	2.159e-05	0.0002	1.488e-05	1.265e-05	1.51e-05	1.289e-05	0	0	0	0	0	0.0002	2.307e-05	4.545e-05	1.202e-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	.	.	.	0.205	0.27145	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23463932	0.40508	T	.	.	.	.	.	.	.	0.725308686764	0.72288	0.09281310918753018	0.09213	.	.	0.194469794631	0.00314	T	0.013021	0.11342	T	-0.200156	0.20783	T	-0.417629	0.31348	T	.	.	.	0.776122	0.40827	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.18289	B	.;.;.	.;.;.	2.826584	0.37253	20.4	0.62850827127624964	0.07069	0.74221	0.36306	D	ALL	.	.	.	.	.	.	.	.	.	0.999995270435996	0.74766	0.423476	0.06517	0	0.410168	0.06389	1	0.343423	0.05949	0	0.322829	0.05601	0	0.141427	0.26771	5.75	4.87	0.62877	4.057000	0.57168	5.850000	0.50329	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.3123:0.0:0.6877:0.0	6.519	0.21461	561	0.71236	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	3889.83	35	chr6	89862497	.	G	A	3889.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.73;DP=908;ExcessHet=0.119;FS=0.415;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.71;ReadPosRankSum=0.619;SOR=0.733	GT:AD:DP:GQ:PL	0/1:81,71:152:99:1822,0,2046	17	0	2	0
chr6	109979173	109979175	GCG	-	exonic	GPR6	.	nonframeshift deletion	GPR6:NM_005284:exon2:c.61_63del:p.A25del,GPR6:NM_001286099:exon3:c.106_108del:p.A40del	.	417	1100	5	0	0	5	0.00226757	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.805e-05	0	0	0	0	3.51e-05	0	0.0001	2.59e-05	4	154602	rs760613921	3.186e-05	8.824e-05	3.724e-05	2.644e-05	0.0007	2.443e-05	2.185e-05	0.0002	0.0001	3.061e-05	0.0002	0	7.577e-05	0	0.0007	1.984e-05	0.0001	2.345e-05	2.632e-05	2.628e-05	2.573e-05	2.694e-05	6.55e-05	8.15e-06	5.15e-06	4.88e-06	1.83e-06	0	0	6.55e-05	0	0	0	0	2.943e-05	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1411.29	33	chr6	109979172	.	AGCG	A	1411.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=713;ExcessHet=0;FS=6.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=21.71;ReadPosRankSum=-0.376;SOR=0.43	GT:AD:DP:GQ:PL	0/1:29,36:65:99:1425,0,1087	18	0	1	0
chr6	121447061	121447061	A	G	exonic	GJA1	.	nonsynonymous SNV	GJA1:NM_000165:exon2:c.A214G:p.I72V	Atrioventricular septal defect 3, Autosomal dominant;Craniometaphyseal dysplasia, autosomal recessive, Autosomal recessive;Erythrokeratodermia variabilis et progressiva, Autosomal recessive, Autosomal dominant;Hypoplastic left heart syndrome 1, Autosomal recessive;Oculodentodigital dysplasia, Autosomal dominant;Oculodentodigital dysplasia, autosomal recessive, Autosomal recessive;Palmoplantar keratoderma with congenital alopecia, Autosomal dominant;Syndactyly, type III, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.787	0.250974127698	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.053e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.01	0.65728	D	0.908	0.50127	P	0.669	0.53077	P	0.001142	0.40056	N	0.240936	0.999999	0.58761	D	1.865	0.49290	L	-5.54	0.99184	D	-0.92	0.24676	N	0.498	0.53093	1.093	0.99378	D	0.938	0.97961	D	10	0.8795201	0.87257	D	0.250974	0.89113	D	0.787	0.92948	0.7	0.83684	0.943663086211	0.94307	0.8918822313251208	0.89158	0.856064958791	0.68761	0.738846123219	0.72803	T	0.763452	0.93610	D	0.34166	0.85945	D	0.252994	0.85761	D	0.803063251343763	0.46562	D	0.90391	0.66280	D	0.38390532	0.59598	0.3327721	0.59121	0.38390532	0.59598	0.3327721	0.59121	-6.188	0.47826	T	0.3332976928640002	0.43127	0.176	0.38426	B	.;.;.;.;.	.;.;.;.;.	3.909359	0.56999	23.8	0.99754698206370063	0.84537	0.97121	0.72812	D	AEFBCI	0.942640	0.94747	D	0.628616182966142	0.74992	6.227793	0.663610123529025	0.79629	7.123	0.999999999992006	0.74766	0.67177	0.52595	0	0.573888	0.26702	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.5	5.5	0.81386	9.325000	0.96006	9.424000	0.80768	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	1.0:0.0:0.0:0.0	15.605	0.76411	605	0.67457	Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal;Connexin, N-terminal|Connexin, N-terminal	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	62.35	33	chr6	121447061	.	A	G	62.35	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.027;DP=926;ExcessHet=0;FS=43.987;InbreedingCoeff=-0.0284;MLEAC=1;MLEAF=0.026;MQ=56.62;MQRankSum=-2.609;QD=0.56;ReadPosRankSum=1.19;SOR=5.784	GT:AD:DP:GQ:PL	0/1:93,19:112:76:76,0,2270	18	0	1	0
chr6	127475667	127475667	G	C	exonic	SOGA3	.	nonsynonymous SNV	SOGA3:NM_001012279:exon6:c.C2359G:p.R787G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	0.0294779720707	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02	0.49613	D	0.038	0.51421	D	0.94	0.52768	P	0.627	0.51631	P	0.000000	0.84330	D	0.000000	0.999998	0.58761	D	1.87	0.49600	L	1.57	0.29342	T	-2.28	0.50830	N	0.848	0.84401	-1.1091	0.03148	T	0.072	0.29259	T	10	0.5849918	0.66060	D	0.029478	0.51979	D	0.258	0.56959	0.198	0.11110	0.220303561663	0.21668	0.9553684904354519	0.95521	.	.	0.809187352657	0.83368	D	0.093602	0.39246	T	0.200191	0.73909	D	0.0497839	0.73568	D	0.952574253082275	0.63824	D	0.922208	0.71716	D	0.73451984	0.79979	0.37964514	0.63015	0.73451984	0.79981	0.37964514	0.63015	-5.021	0.37067	T	.	.	0.869	0.80838	P	.;.	.;.	5.030521	0.83670	28.1	0.99782776199374856	0.86955	0.97867	0.77726	D	AEFDBI	0.856836	0.77413	D	0.524019855487875	0.68514	5.227696	0.55777498529191	0.71938	5.731989	0.999894269987856	0.45129	0.632932	0.41330	0	0.573888	0.26702	0	0.601832	0.32385	0	0.530356	0.10902	0	.	.	5.27	5.27	0.73797	5.169000	0.64823	6.588000	0.56017	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.8599:0.1401	15.325	0.73864	618	0.66225	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1298.33	44	chr6	127475667	.	G	C	1298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1041;ExcessHet=0;FS=7.002;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.392;SOR=1.106	GT:AD:DP:GQ:PL	0/1:69,50:119:99:1312,0,1701	18	0	1	0
chr6	134918678	134918678	G	T	exonic	ALDH8A1	.	nonsynonymous SNV	ALDH8A1:NM_001193480:exon6:c.C1051A:p.P351T,ALDH8A1:NM_170771:exon6:c.C1039A:p.P347T,ALDH8A1:NM_022568:exon7:c.C1201A:p.P401T	.	439	1067	16	0	0	16	0.00744186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.298	0.0714911742485	0.0041	0.00139776	0.0051	0.0002	0.0010	0	0.0020	0.0084	0.0011	0.0019	0.0049935	772	154602	rs61731731	0.0055	0.0055	0.0055	0.0054	0.0066	0.0054	0.0054	0.0065	0.0064	0.0007	0.0012	0.0007	0	0.0035	0.0026	0.0066	0.0043	0.0018	0.0036	0.0036	0.0038	0.0033	0.0065	0.0033	0.0032	0.0060	0.0058	0.0008	0	0.0010	0	0	0.0030	0	0.0065	0.0043	0.0015	0.032	0.72154	D	0.033	0.53072	D	0.604	0.39417	P	0.363	0.43280	B	0.000141	0.49741	D	0.242834	0.999986	0.54805	D	1.11	0.28643	L	-1.0	0.76037	T	-6.21	0.90411	D	0.252	0.36464	-0.5144	0.68124	T	0.224	0.58869	T	10	0.013618439	0.00288	T	0.071491	0.71283	D	0.298	0.61843	.	.	0.780379905589	0.77835	0.7644261845423829	0.76390	0.323159786011	0.34483	0.373488128185	0.21330	T	0.44226	0.78649	T	-0.288356	0.09801	T	-0.181993	0.56339	T	0.0731636617424543	0.09088	T	0.946005	0.95043	D	0.59032226	0.72169	0.6018954	0.76868	0.59032226	0.72170	0.6018954	0.76869	-4.149	0.26009	T	.	.	0.153	0.39664	B	.;.;.;.	.;.;.;.	2.783712	0.36570	20.3	0.99734951687566986	0.83047	0.85687	0.44847	D	ALL	0.518365	0.54409	D	0.0299642111254581	0.43221	2.619337	0.102168638742454	0.44660	2.743402	0.986586276959072	0.31089	0.533608	0.22052	0	0.61073	0.52368	0	0.685742	0.62368	0	0.613276	0.41899	0	.	.	5.83	2.85	0.32333	1.861000	0.39078	6.184000	0.54674	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	0.501000	0.29039	0.0715:0.1674:0.7611:0.0	13.479	0.60777	870	0.31527	Aldehyde dehydrogenase domain;.;.;Aldehyde dehydrogenase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.005051	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	3003.33	33	chr6	134918678	.	G	T	3003.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.42;DP=876;ExcessHet=0;FS=9.948;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.82;ReadPosRankSum=0.969;SOR=0.952	GT:AD:DP:GQ:PL	0/1:141,113:254:99:3017,0,3699	18	0	1	0
chr6	157206412	157206412	C	A	exonic	ARID1B	.	nonsynonymous SNV	ARID1B:NM_001363725:exon18:c.C3141A:p.S1047R,ARID1B:NM_017519:exon19:c.C5481A:p.S1827R,ARID1B:NM_001374820:exon20:c.C5520A:p.S1840R,ARID1B:NM_001374828:exon20:c.C5640A:p.S1880R,ARID1B:NM_001371656:exon21:c.C5520A:p.S1840R	Coffin-Siris syndrome 1, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00656902526907	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.052e-06	1.361e-06	2.75e-06	0.0002	5.5e-07	1.5e-07	3.85e-06	1.44e-06	0	0	0	0	0	0.0002	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.09319	T	0.289	0.21078	T	0.0	0.07471	B	0.001	0.06944	B	0.002081	0.00857	N	3.836750	0.999965	0.18878	N	0.69	0.16971	N	4.79	0.02084	T	-1.05	0.28703	N	0.11	0.09631	-0.9108	0.46756	T	0.001	0.00467	T	10	0.037344426	0.02084	T	0.006569	0.17329	T	0.011	0.01250	0.185	0.09388	0.261638197198	0.25763	0.09338977125568121	0.09270	0.699661806568	0.61046	0.236031740904	0.02444	T	0.023543	0.17955	T	-0.351482	0.04634	T	-0.742656	0.03779	T	0.0620892532169819	0.07495	T	0.326667	0.07800	T	0.054411903	0.10434	0.03732615	0.03361	0.054411903	0.10434	0.03732615	0.03361	-4.048	0.24534	T	0.20972503848423527	0.28082	0.221	0.45211	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	-1.659122	0.00212	0.003	0.30922174104273681	0.01716	0.03586	0.08806	N	AEFBI	0.068459	0.13505	N	-1.9278743827323	0.00301	0.0129083	-2.05606341435033	0.00232	0.01022868	0.99999986730321	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.06	-10.1	0.00330	-1.706000	0.01995	-13.081000	0.00481	-0.249000	0.07183	0.000000	0.06391	0.000000	0.08366	0.020000	0.11549	0.2593:0.1121:0.3171:0.3114	1.323	0.01993	939	0.14249	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1206.33	34	chr6	157206412	.	C	A	1206.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=738;ExcessHet=0;FS=0.707;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.31;ReadPosRankSum=1.54;SOR=0.814	GT:AD:DP:GQ:PL	0/1:71,46:117:99:1220,0,1888	18	0	1	0
chr6	167341336	167341336	G	A	exonic	TTLL2	.	nonsynonymous SNV	TTLL2:NM_031949:exon3:c.G1436A:p.R479H	.	428	1093	1	0	0	1	0.000457247	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.000709278487277	7.7e-05	.	2.479e-05	0	8.664e-05	0	0	3.006e-05	0	0	2.59e-05	4	154602	rs138482235	8.277e-05	8.277e-05	8.576e-05	7.975e-05	0.0003	7.069e-05	6.618e-05	0.0002	0.0002	5.974e-05	0.0003	7.652e-05	5.038e-05	1.872e-05	0	7.194e-05	0.0003	4.637e-05	0.0003	0.0003	0.0003	0.0002	0.0016	0.0002	0.0002	0.0011	0.0010	0.0001	0	0.0016	0	0	0	0	7.356e-05	0.0014	0	0.577	0.06049	T	0.557	0.09205	T	0.0	0.02946	B	0.0	0.01387	B	0.601189	0.10957	N	0.803881	1	0.08975	N	0	0.06538	N	4.33	0.02363	T	-0.2	0.10136	N	0.043	0.01577	-0.9524	0.40555	T	0.002	0.00497	T	10	0.020542055	0.00475	T	7.09E-4	0.00454	T	0.017	0.02790	.	.	0.0138822411134	0.00435	0.2168972768688237	0.21605	0.147340464007	0.16621	0.206704854965	0.00679	T	0.001804	0.01223	T	-0.557214	0.00264	T	-0.801507	0.01865	T	0.00457232538610697	0.00049	T	0.417258	0.10990	T	0.0255889	0.01514	0.029868804	0.01372	0.0255889	0.01514	0.029868804	0.01372	-3.874	0.21913	T	.	.	0.066	0.02285	B	.;.	.;.	0.442227	0.08122	4.854	0.45268593979235477	0.03541	0.00697	0.02968	N	AEFGBHCI	0.039147	0.05645	N	-1.57784462824029	0.01379	0.06009875	-1.55110636466353	0.01968	0.08988614	0.980524388563841	0.30146	0.57788	0.32782	0	0.563428	0.19063	0	0.608075	0.38828	0	0.564101	0.26826	0	.	.	3.85	1.02	0.19102	0.543000	0.22945	-1.188000	0.06077	-0.282000	0.06404	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.4544:0.0:0.5456:0.0	7.431	0.26303	988	0.01987	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2284.33	35	chr6	167341336	.	G	A	2284.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.48;DP=895;ExcessHet=0;FS=5.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.28;ReadPosRankSum=0.089;SOR=0.889	GT:AD:DP:GQ:PL	0/1:88,84:172:99:2298,0,2411	18	0	1	0
chr6	167976271	167976271	T	0	exonic	HGC6.3	.	.	.	.	531	815	51	0	125	176	0.0303391	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2222	770.82	29	chr6	167976271	.	T	*	770.82	.	AC=8;AF=0.222;AN=36;BaseQRankSum=3.2;DP=918;ExcessHet=0.0665;FS=4.958;InbreedingCoeff=0.3504;MLEAC=8;MLEAF=0.222;MQ=51.17;MQRankSum=-5.196;QD=1.72;ReadPosRankSum=-0.883;SOR=0.463	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50:50:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1997,151,0:167976249	12	2	4	1
chr6	167976273	167976273	A	0	exonic	HGC6.3	.	.	.	.	664	522	164	53	119	389	0.205479	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	3205.38	29	chr6	167976273	.	A	*	3205.38	.	AC=9;AF=0.25;AN=36;BaseQRankSum=-0.21;DP=943;ExcessHet=0.0378;FS=5.934;InbreedingCoeff=0.3968;MLEAC=9;MLEAF=0.25;MQ=56.14;MQRankSum=-2.716;QD=6.51;ReadPosRankSum=0.409;SOR=0.525	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,50:50:99:1|1:167976249_AAGGAGGAGGCAGTGGGGGTCATTACCCCTGCAGTGTGTTGGG_A:1997,151,0:167976249	11	2	5	1
chr6	168040072	168040072	G	C	exonic	KIF25	.	nonsynonymous SNV	KIF25:NM_005355:exon6:c.G502C:p.G168R,KIF25:NM_030615:exon6:c.G502C:p.G168R	.	425	1095	1	0	1	2	0.000456413	.	.	.	2446196	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.090	0.00730511354048	.	.	.	.	.	.	.	.	.	.	.	.	.	rs533395739	3.424e-06	3.42e-06	2.725e-06	4.131e-06	0.0002	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0.0002	2.7e-06	1.657e-05	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	0.495	0.07870	T	0.523	0.10354	T	0.08	0.24543	B	0.005	0.21741	B	0.018881	0.01498	N	2.405690	1	0.08975	N	-0.345	0.03330	N	-0.84	0.74265	T	0.77	0.02068	N	0.143	0.15328	-1.0844	0.06517	T	0.033	0.14029	T	10	0.08561221	0.14470	T	0.007305	0.19361	T	0.090	0.26093	0.307	0.27806	0.298403945805	0.29456	0.21205342566463076	0.21121	0.126926261757	0.14302	0.248839259148	0.03646	T	0.039395	0.25175	T	-0.168115	0.25519	T	-0.479262	0.24524	T	0.205677703022957	0.20726	T	0.327667	0.06803	T	0.10593595	0.25049	0.057272214	0.10380	0.10593595	0.25049	0.057272214	0.10380	-3.154	0.11927	T	.	.	0.105	0.33981	B	.;.;.;.	.;.;.;.	-0.488442	0.01904	0.158	0.54173170237429769	0.05085	0.01109	0.04059	N	AEFDBHCI	0.041296	0.06258	N	-1.49071392662515	0.01915	0.08404655	-1.49362128094679	0.02396	0.1101316	0.350474922411159	0.19677	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.09	-3.35	0.04620	-0.410000	0.07214	-5.265000	0.01784	-0.196000	0.09079	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.4514:0.1562:0.2646:0.1278	1.64	0.02585	.	.	Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor domain;Kinesin motor domain|Kinesin motor domain|Kinesin motor 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	.	.	.	.	.	.	.	.	0.05263	1335.83	34	chr6	168040072	.	G	C	1335.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.07;DP=730;ExcessHet=0.119;FS=2.384;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.6;ReadPosRankSum=1.44;SOR=0.954	GT:AD:DP:GQ:PL	0/1:35,28:63:99:732,0,852	17	0	2	0
chr6	170561952	170561952	A	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	48	390	47	5	1032	1089	0.0681004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8158	949.0	153	chr6	170561952	.	A	*	949.0	.	AC=31;AF=0.816;AN=38;DP=3440;ExcessHet=2.0135;FS=1.339;InbreedingCoeff=-0.1874;MLEAC=31;MLEAF=0.816;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=3.29;SOR=0.564	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,57:57:99:1|1:170561949_GCAA_G:2270,177,0:170561949	0	12	7	0
chr6	170561964	170561964	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	68	560	433	93	368	987	0.355952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5278	9626.11	127	chr6	170561964	.	G	*	9626.11	.	AC=19;AF=0.528;AN=36;BaseQRankSum=-1.99;DP=3235;ExcessHet=0.2833;FS=3.053;InbreedingCoeff=0.0877;MLEAC=20;MLEAF=0.556;MQ=59.95;MQRankSum=0;QD=5.61;ReadPosRankSum=2.3;SOR=0.516	GT:AD:DP:GQ:PGT:PID:PL:PS	1|0:0,50:78:99:1|0:170561949_GCAA_G:4169,1040,755:170561949	5	6	7	1
chr6	170561967	170561967	G	0	exonic	TBP	.	.	.	Spinocerebellar ataxia 17, Autosomal dominant	46	879	60	4	533	601	0.0372399	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4737	2380.05	128	chr6	170561967	.	G	*	2380.05	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.939;DP=2816;ExcessHet=1.9883;FS=1.746;InbreedingCoeff=-0.0556;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=1.87;ReadPosRankSum=2.34;SOR=0.583	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:55,26:84:99:.:.:1523,0,1801:.	6	5	8	0
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	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4444	1206.95	21	chr7	290725	.	C	G	1206.95	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.395;DP=627;ExcessHet=25.4433;FS=271.165;InbreedingCoeff=-0.7777;MLEAC=17;MLEAF=0.472;MQ=60;MQRankSum=0;QD=2.5;ReadPosRankSum=1.14;SOR=10.646	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:11,10:21:40:.:.:40,0,164:.	2	0	16	1
chr7	997651	997651	G	A	exonic	C7orf50	.	stopgain	C7orf50:NM_001134395:exon5:c.C559T:p.R187X,C7orf50:NM_001134396:exon5:c.C559T:p.R187X,C7orf50:NM_001318252:exon5:c.C559T:p.R187X,C7orf50:NM_001350968:exon5:c.C559T:p.R187X,C7orf50:NM_001350969:exon5:c.C517T:p.R173X,C7orf50:NM_032350:exon5:c.C559T:p.R187X	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	.	7.7e-05	.	1.038e-05	0	0	0	0	1.899e-05	0	0	6.5e-06	1	154602	rs372720975	8.584e-05	8.551e-05	9.292e-05	7.869e-05	0.0001	7.341e-05	6.842e-05	8.602e-05	8.079e-05	0	0	0	2.537e-05	0	0	0.0001	0.0001	2.329e-05	8.538e-05	8.536e-05	6.421e-05	0.0001	0.0002	4.955e-05	3.961e-05	0.0001	8.875e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.048423	0.23252	N	0.367616	0.905416	0.36275	D	.	.	.	.	.	.	.	.	.	0.182	0.20129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.199398	0.73835	D	0.415088	0.92590	D	0.993962585926056	0.84996	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;Recessive;Recessive;.;.	High;High;High;.;.	9.233046	0.98651	40	0.99573553567881035	0.72561	0.78250	0.38578	D	AEFDGBHCI	0.093199	0.18861	N	0.62684767401012	0.74877	6.208183	0.440905315651336	0.64134	4.66182	0.999999132368644	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.779548	0.98927	0	0.714379	0.83352	0	.	.	5.35	5.35	0.76297	2.669000	0.46490	7.289000	0.58048	0.676000	0.76740	0.990000	0.36992	1.000000	0.68203	0.386000	0.26469	0.0:0.0:1.0:0.0	16.549	0.84306	934	0.15400	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	683.33	36	chr7	997651	.	G	A	683.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=697;ExcessHet=0;FS=2.43;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.95;ReadPosRankSum=-0.932;SOR=1.11	GT:AD:DP:GQ:PL	0/1:23,26:49:99:697,0,527	18	0	1	0
chr7	2543630	2543630	C	T	exonic	BRAT1	.	nonsynonymous SNV	BRAT1:NM_001350627:exon4:c.G238A:p.A80T,BRAT1:NM_001350626:exon5:c.G763A:p.A255T,BRAT1:NM_152743:exon5:c.G763A:p.A255T	Rigidity and multifocal seizure syndrome, lethal neonatal, Autosomal recessive	0	1520	1	1	0	3	0.000985869	.	.	.	561538	not_provided|Neonatal-onset_encephalopathy_with_rigidity_and_seizures|Inborn_genetic_diseases	MedGen:C3661900|MONDO:MONDO:0013784,MedGen:C3281029,OMIM:614498,Orphanet:435845|MeSH:D030342,MedGen:C0950123	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.331	0.178525869879	0.0002	.	7.585e-05	0	0	0.0001	0	0.0001	0	0	9.06e-05	14	154602	rs149503475	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0002	0.0002	3.174e-05	2.735e-05	0	5.224e-05	0	0	0.0002	0.0001	1.332e-05	0.0001	0.0001	0.0002	9.415e-05	0.0002	8.169e-05	6.725e-05	0.0001	0.0001	4.825e-05	0	6.541e-05	0	0.0002	0	0	0.0002	0	0	0.159	0.23813	T	0.421	0.14075	T	0.975	0.58077	D	0.234	0.38393	B	0.001362	0.39242	N	0.291462	0.998198	0.22299	N	2.1	0.58353	M	-2.73	0.90679	D	-1.19	0.30346	N	0.31	0.34981	-0.1601	0.78668	T	0.618	0.86526	D	10	0.17944443	0.33079	T	0.178526	0.85362	D	0.331	0.65325	.	.	0.801641172427	0.79978	0.13821516321443816	0.13745	0.0566205886456	0.06256	0.448053598404	0.31678	T	0.00557	0.05022	T	-0.154565	0.27601	T	-0.204752	0.54195	T	0.050225732685094	0.05539	T	0.727427	0.34191	T	0.039516944	0.05469	0.07503676	0.16476	0.039516944	0.05469	0.07503676	0.16476	-3.924	0.22662	T	0.3969909773553774	0.48938	0.122	0.25592	B	.	.	1.255168	0.16525	12.59	0.98396296422234775	0.41020	0.16500	0.19418	N	AEFDGBCI	0.056276	0.10389	N	-0.296243763135989	0.29293	1.623187	-0.422651378114572	0.24334	1.331952	0.997271251342092	0.35446	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.71	3.92	0.44525	0.439000	0.21293	2.549000	0.33255	0.599000	0.40250	0.006000	0.17386	0.990000	0.31317	0.019000	0.11356	0.0:0.8982:0.0:0.1018	12.191	0.53582	946	0.12043	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1305.33	33	chr7	2543630	.	C	T	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.84;DP=939;ExcessHet=0;FS=0.733;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=-0.102;SOR=0.802	GT:AD:DP:GQ:PL	0/1:49,54:103:99:1319,0,1012	18	0	1	0
chr7	12380643	12380643	G	C	exonic	VWDE	.	nonsynonymous SNV	VWDE:NM_001135924:exon5:c.C632G:p.S211C,VWDE:NM_001346972:exon5:c.C632G:p.S211C,VWDE:NM_001346973:exon5:c.C167G:p.S56C	.	439	1041	40	2	0	44	0.0206961	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.317	.	0.0002	0.00299521	0.0071	0.0004	0.0024	0	0.0012	0.0005	0	0.0191	0.0012484	193	154602	rs201430222	0.0014	0.0013	0.0008	0.0019	0.0163	0.0013	0.0013	0.0155	0.0152	6.33e-05	0.0004	0.0004	2.798e-05	0.0002	0.0102	0.0004	0.0017	0.0163	0.0009	0.0009	0.0007	0.0012	0.0147	0.0008	0.0008	0.0120	0.0110	4.812e-05	0	0.0007	0.0006	0	0.0003	0.0136	0.0007	0.0019	0.0147	0.019	0.50132	D	0.015	0.61642	D	0.761	0.43566	P	0.338	0.42306	B	.	.	.	.	0.965048	0.25955	N	1.495	0.37439	L	-1.67	0.82806	D	-2.2	0.49519	N	0.162	0.17002	-0.4008	0.72001	T	0.416	0.76279	T	9	0.008293569	0.00188	T	.	.	.	0.317	0.63904	.	.	0.343334270461	0.33943	0.20029899394606046	0.19946	.	.	0.376162022352	0.21712	T	0.039527	0.25219	T	-0.420008	0.01710	T	-0.361152	0.37918	T	0.024809887274748	0.01248	T	0.578142	0.20837	T	0.16607872	0.36921	0.15976596	0.37245	0.16607872	0.36920	0.15976596	0.37244	-11.404	0.81827	D	.	.	0.167	0.36712	B	.	.	3.624016	0.51305	23.1	0.98969845649481181	0.49501	0.95695	0.65763	D	AEFBI	0.631091	0.61219	D	0.196351805118652	0.51024	3.287046	0.249341905279831	0.52612	3.434912	0.999978700190465	0.50053	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.98	4.98	0.65679	2.332000	0.43561	5.528000	0.48839	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.775000	0.36711	0.0:0.0:0.843:0.157	13.417	0.60423	837	0.37933	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003589	0.000000	0.000000	0.013043	0.000000	0.000000	0.005618	0.012195	0.07895	4882.79	43	chr7	12380643	.	G	C	4882.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.55;DP=1015;ExcessHet=0.3672;FS=2.947;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=-0.103;SOR=0.872	GT:AD:DP:GQ:PL	0/1:63,55:118:99:1444,0,1636	16	0	3	0
chr7	21784440	21784440	A	G	exonic	DNAH11	.	nonsynonymous SNV	DNAH11:NM_001277115:exon58:c.A9497G:p.Q3166R	Ciliary dyskinesia, primary, 7, with or without situs inversus, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	1155658	Primary_ciliary_dyskinesia	Human_Phenotype_Ontology:HP:0012265,MONDO:MONDO:0016575,MedGen:C0008780,OMIM:PS244400,Orphanet:244	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.297	0.0506212878366	.	0.000998403	0.0007	0	0	0	0	0	0.0013	0.0052	0.0005045	78	154602	rs562875579	0.0002	0.0002	0.0002	0.0003	0.0039	0.0002	0.0002	0.0035	0.0034	0	0	0	0	0	0.0002	2.699e-06	0.0004	0.0039	0.0002	0.0002	6.423e-05	0.0003	0.0048	0.0001	9.232e-05	0.0033	0.0028	0	0	6.539e-05	0	0	0	0	0	0	0.0048	0.214	0.19361	T	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	D	.	.	.	-0.8	0.73845	T	-1.57	0.37955	N	0.31	0.37717	0.087	0.83932	D	0.574	0.84599	D	9	0.009508342	0.00214	T	0.050621	0.64320	D	0.297	0.61730	0.324	0.30549	0.727606065629	0.72519	0.5618559201112545	0.56112	.	.	0.461622297764	0.33533	T	0.249105	0.61900	T	-0.284787	0.10166	T	-0.181861	0.56351	T	0.152861912553343	0.17329	T	0.521748	0.17009	T	0.50749254	0.67533	0.53591233	0.73182	0.5536794	0.70161	0.56630623	0.74897	-3.432	0.15490	T	0.6100918150494773	0.67763	0.118	0.24260	B	.;.;.	.;.;.	3.038194	0.40726	21.2	0.99622092080066726	0.75473	0.98169	0.80199	D	AEFGBI	0.691215	0.65128	D	0.654088880841443	0.76635	6.522801	0.678525992507211	0.80752	7.369173	0.999951335561755	0.48110	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.530356	0.10902	0	.	.	6.17	6.17	0.99707	3.806000	0.55288	8.050000	0.76353	-0.040000	0.17491	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	1.0:0.0:0.0:0.0	15.805	0.78265	775	0.48401	Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk;Dynein heavy chain, coiled coil stalk	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1089.33	40	chr7	21784440	.	A	G	1089.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.1;DP=758;ExcessHet=0;FS=4.557;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.47;ReadPosRankSum=-0.273;SOR=1.116	GT:AD:DP:GQ:PL	0/1:63,52:115:99:1103,0,1391	18	0	1	0
chr7	23274204	23274204	G	T	exonic	GPNMB	.	stopgain	GPNMB:NM_001005340:exon11:c.G1699T:p.E567X,GPNMB:NM_002510:exon11:c.G1663T:p.E555X	.	429	1089	4	0	0	4	0.00183318	.	.	.	700006	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0036	0.00419329	0.0091	0.0007	0.0006	0	0.0664	0.0088	0.0154	0.0027	0.0080206	1240	154602	rs11537976	0.0065	0.0065	0.0065	0.0064	0.0043	0.0064	0.0063	0.0042	0.0041	0.0006	0.0016	0.0085	0	0.0697	0.0012	0.0043	0.0066	0.0029	0.0080	0.0081	0.0055	0.0107	0.0051	0.0077	0.0075	0.0046	0.0044	0.0008	0	0.0022	0.0092	0	0.0719	0.0034	0.0051	0.0052	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.998413	0.44886	D	.	.	.	.	.	.	.	.	.	0.519	0.55019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196812	0.73595	D	0.512542	0.94890	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant;.	.;High;.	6.715099	0.95633	35	0.97589917894241351	0.34786	0.12594	0.17363	N	AEFBI	0.131986	0.25112	N	0.133487670278204	0.48030	3.020667	-0.288374974748457	0.28480	1.588315	0.999582376456521	0.40607	0.615465	0.37627	0	0.587265	0.34161	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	0.235	0.235	0.14697	0.365000	0.20076	-1.161000	0.06152	0.373000	0.20310	0.006000	0.17386	0.000000	0.08366	0.453000	0.27962	0.3027:0.0:0.6973:0.0	4.262	0.10196	512	0.75040	.;.;.	.	.	.	.	.	Likely benign	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	565.33	31	chr7	23274204	.	G	T	565.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.286;DP=645;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=0.16;SOR=0.85	GT:AD:DP:GQ:PL	0/1:28,25:53:99:579,0,631	18	0	1	0
chr7	27094575	27094578	ACCC	-	exonic	HOXA1	.	frameshift deletion	HOXA1:NM_005522:exon2:c.870_873del:p.E290Dfs*41	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1845.33	33	chr7	27094574	.	GACCC	G	1845.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-1.915;DP=1478;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=2.01;ReadPosRankSum=1.51;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,37:164:99:0|1:27094574_GACCC_G:571,0,4742:27094574	14	0	5	0
chr7	27094578	27094578	-	GGGG	exonic	HOXA1	.	frameshift insertion	HOXA1:NM_005522:exon2:c.869_870insCCCC:p.E290Dfs*128	Athabaskan brainstem dysgenesis syndrome;Bosley-Salih-Alorainy syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1783.33	33	chr7	27094578	.	C	CGGGG	1783.33	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-2.156;DP=1454;ExcessHet=1.3;FS=134.511;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.96;ReadPosRankSum=2.06;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:127,36:163:99:0|1:27094574_GACCC_G:564,0,4744:27094574	14	0	5	0
chr7	36410543	36410543	C	T	exonic	ANLN	.	nonsynonymous SNV	ANLN:NM_001284301:exon6:c.C1126T:p.R376C,ANLN:NM_001284302:exon6:c.C1126T:p.R376C,ANLN:NM_018685:exon6:c.C1126T:p.R376C	Focal segmental glomerulosclerosis 8, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	1374769	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.172	0.0992694394746	.	0.000199681	7.491e-05	0	0	0	0	1.513e-05	0	0.0005	6.47e-05	10	154602	rs559978701	3.977e-05	3.967e-05	2.32e-05	5.651e-05	0.0005	3.12e-05	2.853e-05	0.0004	0.0003	3e-05	2.28e-05	0	2.523e-05	0	0	9.905e-06	3.32e-05	0.0005	3.285e-05	3.281e-05	0	6.715e-05	0.0006	1.261e-05	7.98e-06	0.0002	9e-05	0	0	6.547e-05	0	0	0	0	1.47e-05	0	0.0006	0.001	0.91255	D	0.014	0.63109	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.095114	1	0.81001	D	2.545	0.74286	M	2.21	0.19990	T	-4.0	0.75139	D	0.516	0.54671	-0.9388	0.42806	T	0.133	0.44642	T	10	0.14448911	0.27420	T	0.099269	0.77079	D	0.172	0.43662	0.266	0.21261	0.637469505071	0.63448	0.5334594273513621	0.53270	0.687227062568	0.60371	0.556408643723	0.46760	T	0.376331	0.73975	T	-0.292236	0.09413	T	-0.305835	0.44104	T	0.816710293292999	0.47529	D	0.979602	0.93000	D	0.4647072	0.64964	0.35285512	0.60856	0.48249957	0.66052	0.34610927	0.60283	-13.121	0.90792	D	0.3195570575660832	0.41767	0.431	0.65920	A	.;.	.;.	5.108625	0.85399	28.6	0.99911053915977965	0.98022	0.97002	0.72125	D	AEFBI	0.537524	0.55529	D	0.429595695221995	0.63057	4.532237	0.384719815681844	0.60621	4.25188	0.999982547349855	0.51787	0.719381	0.83141	0	0.724815	0.89359	0	0.724815	0.87919	0	0.733575	0.97253	0	.	.	5.63	3.85	0.43556	4.658000	0.61192	5.861000	0.50433	-0.230000	0.07744	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.8629:0.0:0.1371	12.301	0.54197	657	0.62240	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1246.33	33	chr7	36410543	.	C	T	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.473;DP=721;ExcessHet=0;FS=1.757;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.34;ReadPosRankSum=-0.183;SOR=0.507	GT:AD:DP:GQ:PL	0/1:51,50:101:99:1260,0,1312	18	0	1	0
chr7	43800512	43800512	G	A	exonic	BLVRA	.	nonsynonymous SNV	BLVRA:NM_000712:exon6:c.G400A:p.A134T,BLVRA:NM_001253823:exon7:c.G400A:p.A134T	Hyperbiliverdinemia, Autosomal recessive, Autosomal dominant	0	1499	22	1	0	24	0.00794176	.	.	.	2117910	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.052	0.00158489144956	0.0009	0.00119808	0.0014	0.0004	0	0.0005	0	0.0008	0	0.0065	0.0012225	189	154602	rs149777705	0.0009	0.0009	0.0007	0.0011	0.0070	0.0008	0.0008	0.0065	0.0063	0.0001	0.0002	7.653e-05	2.519e-05	0	0.0043	0.0005	0.0008	0.0070	0.0008	0.0008	0.0007	0.0008	0.0068	0.0006	0.0006	0.0050	0.0044	0.0004	0	0.0003	0	0	0	0.0102	0.0008	0.0009	0.0068	0.201	0.20306	T	0.106	0.37872	T	0.007	0.14184	B	0.002	0.06944	B	0.000017	0.62929	D	0.148180	0.988626	0.24389	N	0.895	0.22405	L	1.96	0.22270	T	-0.34	0.12661	N	0.174	0.18649	-1.0470	0.15246	T	0.030	0.12848	T	10	0.008343786	0.00189	T	0.001585	0.02523	T	0.052	0.14661	.	.	0.336892272479	0.33291	0.21129465543673692	0.21045	0.198753139644	0.22255	0.58534014225	0.50838	T	0.025684	0.19158	T	-0.532842	0.00370	T	-0.535278	0.18762	T	0.0120343098674384	0.00190	T	0.774123	0.40598	T	0.091147415	0.21350	0.07763785	0.17315	0.103402965	0.24441	0.101527795	0.24308	-4.616	0.32372	T	.	.	0.084	0.10208	B	.;.	.;.	3.536429	0.49643	22.8	0.99356288992233344	0.60820	0.60002	0.31072	D	AEFBI	0.145683	0.26894	N	-0.19555428789303	0.33318	1.888954	-0.0146671438037346	0.39051	2.309696	0.0205481302936694	0.13268	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.36	3.53	0.39533	3.428000	0.52560	5.140000	0.47705	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.267:0.0:0.733:0.0	6.838	0.23130	774	0.48577	Biliverdin reductase, catalytic;Biliverdin reductase, catalytic	.	.	.	.	.	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	0.004541	0.015152	0.004076	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1053.33	36	chr7	43800512	.	G	A	1053.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.074;DP=719;ExcessHet=0;FS=4.202;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=-1.35;SOR=1.154	GT:AD:DP:GQ:PL	0/1:36,45:81:99:1067,0,797	18	0	1	0
chr7	44967694	44967694	C	T	exonic	MYO1G	.	nonsynonymous SNV	MYO1G:NM_033054:exon14:c.G1693A:p.D565N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0345319884909	.	.	8.274e-06	0	0	0	0	1.509e-05	0	0	6.5e-06	1	154602	rs747346222	2.737e-06	2.736e-06	1.362e-06	4.127e-06	2.319e-05	6.4e-07	4.3e-07	3.85e-06	1.44e-06	0	0	0	0	0	0	1.799e-06	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3	0.14497	T	0.323	0.18959	T	0.037	0.20876	B	0.081	0.28987	B	0.000605	0.42945	D	0.000000	0.560078	0.31264	N	0.785	0.19527	N	-0.62	0.71895	T	-0.86	0.23372	N	0.388	0.42931	-0.6568	0.62417	T	0.214	0.57573	T	10	0.13840151	0.26322	T	0.034532	0.55736	D	0.045	0.12272	0.403	0.43408	0.62036161985	0.61728	0.274427949162739	0.27355	1.10983627166	0.78020	0.590180754662	0.51519	T	0.194843	0.55074	T	-0.219646	0.18042	T	-0.456429	0.26988	T	0.425056667081326	0.29877	T	0.79652	0.44001	T	0.12833177	0.30005	0.060595177	0.11566	0.12833177	0.30005	0.060595177	0.11566	-2.831	0.08472	T	.	.	0.105	0.19194	B	.;.	.;.	4.227958	0.63999	24.6	0.99756227976626988	0.84694	0.74250	0.36320	D	ALL	0.274893	0.38997	N	-0.0725746040385274	0.38599	2.263142	0.0638129830721016	0.42745	2.590812	0.999999999999985	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.440839	0.06518	1	0.636	0.56748	0	.	.	5.36	4.48	0.53973	2.028000	0.40709	3.993000	0.41005	-0.176000	0.10722	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.6841:0.1642:0.1517	6.227	0.19925	721	0.55360	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor domain|Class I myosin, motor 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	.	.	.	.	.	.	.	.	0.02632	1198.33	34	chr7	44967694	.	C	T	1198.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=705;ExcessHet=0;FS=0.814;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.1;ReadPosRankSum=0.243;SOR=0.736	GT:AD:DP:GQ:PL	0/1:39,46:85:99:1212,0,981	18	0	1	0
chr7	47829596	47829596	G	C	exonic	PKD1L1	.	nonsynonymous SNV	PKD1L1:NM_138295:exon44:c.C6564G:p.C2188W	Heterotaxy, visceral, 8, autosomal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	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	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.3947	4446.21	147	chr7	47829596	.	G	C	4446.21	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-0.867;DP=2277;ExcessHet=25.4433;FS=276.126;InbreedingCoeff=-0.7273;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=2.54;ReadPosRankSum=0.158;SOR=13.082	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:55,44:99:99:0|1:47829595_G_C:401,0,698:47829595	4	0	15	0
chr7	50368104	50368104	C	G	exonic	IKZF1	.	nonsynonymous SNV	IKZF1:NM_001291845:exon4:c.C259G:p.L87V	Immunodeficiency, common variable, 13, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.00431561606013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	-0.5	0.15782	N	0.11	0.09631	-0.9997	0.30002	T	0.055	0.23375	T	7	0.043260276	0.03157	T	0.004316	0.10467	T	0.011	0.01250	0.272	0.22210	0.117191471859	0.11215	.	.	.	.	.	.	.	0.054479	0.29735	T	-0.291109	0.09525	T	-0.655934	0.08543	T	0.052731511290539	0.05973	T	0.256674	0.04023	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.239	0.47294	B	.	.	-1.396602	0.00363	0.007	0.40883805656463257	0.02914	0.00305	0.01619	N	AEFGBIJ	0.028154	0.02430	N	-1.474115124829	0.02034	0.08940394	-1.65084572243601	0.01371	0.06194978	0.999999998577604	0.74766	0.51972	0.21558	0	0.522029	0.08744	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	4.23	-8.46	0.00822	-2.694000	0.00900	-2.250000	0.03997	-0.184000	0.09925	0.000000	0.06391	0.000000	0.08366	0.068000	0.16518	0.4857:0.2045:0.187:0.1228	2.202	0.03687	.	.	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2353	1577.5	244	chr7	50368104	.	C	G	1577.5	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-4.459;DP=2555;ExcessHet=4.0268;FS=190.894;InbreedingCoeff=-0.3109;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.13;ReadPosRankSum=2.98;SOR=12.201	GT:AD:DP:GQ:PL	0/1:119,63:187:99:379,0,2076	9	0	8	2
chr7	50504057	50504057	C	A	exonic	DDC	.	nonsynonymous SNV	DDC:NM_001242888:exon5:c.G483T:p.M161I,DDC:NM_001242889:exon5:c.G438T:p.M146I,DDC:NM_001242886:exon6:c.G603T:p.M201I,DDC:NM_001242887:exon6:c.G573T:p.M191I,DDC:NM_000790:exon7:c.G717T:p.M239I,DDC:NM_001082971:exon7:c.G717T:p.M239I,DDC:NM_001242890:exon7:c.G717T:p.M239I	Aromatic L-amino acid decarboxylase deficiency, Autosomal recessive	1	1520	1	0	0	1	0.000328839	.	.	.	711042	DDC-related_disorder|Deficiency_of_aromatic-L-amino-acid_decarboxylase|not_provided	.|MONDO:MONDO:0012084,MedGen:C1291564,OMIM:608643,Orphanet:35708|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.105	0.0111738252458	0.0018	0.000798722	0.0025	9.625e-05	0	0	0.0073	0.0037	0.0033	6.058e-05	0.0022186	343	154602	rs11575377	0.0017	0.0017	0.0016	0.0018	0.0018	0.0017	0.0016	0.0018	0.0017	0.0001	0.0002	0.0017	0	0.0060	0.0003	0.0018	0.0015	0	0.0022	0.0022	0.0023	0.0021	0.0034	0.0020	0.0019	0.0030	0.0029	9.625e-05	0	0.0004	0.0020	0	0.0077	0	0.0034	0.0014	0	0.009	0.57480	D	0.109	0.42976	T	0.0	0.02946	B	0.002	0.06944	B	0.001680	0.38326	N	0.252027	0.999744	0.21260	N	-1.185	0.00856	N	1.52	0.30669	T	1.13	0.03297	N	0.252	0.34552	-1.0163	0.24916	T	0.015	0.06042	T	10	0.009609818	0.00244	T	0.011174	0.28518	T	0.135	0.36572	0.107	0.01868	0.515659482774	0.51210	0.5331127277877139	0.53236	0.314831118833	0.33766	0.423758924007	0.28354	T	0.104164	0.41349	T	-0.507096	0.00521	T	-0.497599	0.22596	T	0.0776664128441218	0.09685	T	0.937106	0.76374	D	0.26929975	0.50002	0.18796098	0.42059	0.2508951	0.48094	0.17294744	0.39585	-5.439	0.46795	T	0.07789149179782047	0.03692	0.232	0.60215	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.568735	0.20088	14.58	0.9835693449590488	0.40608	0.56688	0.30182	D	AEFBI	0.372702	0.45825	N	0.0392534542171289	0.43650	2.653752	0.0770155434045908	0.43394	2.642142	0.967044531636928	0.28948	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.83	3.93	0.44666	0.482000	0.21985	1.617000	0.27666	-0.180000	0.10397	0.999000	0.42656	1.000000	0.68203	0.142000	0.20019	0.2567:0.6573:0.0:0.086	6.549	0.21622	673	0.60677	.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	825.33	45	chr7	50504057	.	C	A	825.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=710;ExcessHet=0;FS=6.165;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.31;ReadPosRankSum=1.39;SOR=1.402	GT:AD:DP:GQ:PL	0/1:41,32:73:99:839,0,971	18	0	1	0
chr7	66771977	66771977	C	T	exonic	RABGEF1	.	nonsynonymous SNV	RABGEF1:NM_001367744:exon2:c.C13T:p.R5W,RABGEF1:NM_001367743:exon3:c.C13T:p.R5W	.	8	1513	1	0	0	1	0.00033036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.442e-05	0	0	0	0	3.003e-05	0	0.0004	5.82e-05	9	154602	rs765828930	3.045e-05	3.42e-05	1.928e-05	4.173e-05	0.0003	2.308e-05	2.056e-05	0.0002	0.0001	3.066e-05	0	0	2.623e-05	0	0.0002	1.63e-05	1.675e-05	0.0003	6.573e-06	1.313e-05	0	1.346e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000597	0.000000	0.001370	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1246.33	33	chr7	66771977	.	C	T	1246.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.07;DP=736;ExcessHet=0;FS=6.385;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.46;ReadPosRankSum=-0.048;SOR=0.755	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1260,0,1207	18	0	1	0
chr7	73553638	73553638	A	C	exonic	BCL7B	.	nonsynonymous SNV	BCL7B:NM_001301061:exon2:c.T35G:p.V12G	.	532	983	5	2	0	9	0.00455696	.	.	.	2825746	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	0.0061901	.	.	.	.	.	.	.	.	0.0041878	109	26028	rs150783798	0.0173	0.0003	0.0182	0.0166	0.0234	0.0128	0.0112	0.0168	0.0146	0	.	.	.	0.0048	0.0234	0	0.0077	0.0156	0.0038	0.0038	0.0040	0.0037	0.0098	0.0036	0.0035	0.0076	0.0068	0.0010	0	0.0050	0.0110	0	0.0007	0.0238	0.0051	0.0085	0.0098	.	.	.	0.005	0.72224	D	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	0.241	0.27197	.	.	.	.	.	.	.	0.005997807	0.00135	T	.	.	.	.	.	.	.	0.259504319725	0.25562	0.14090083166857592	0.14013	.	.	.	.	.	0.394278	0.75346	T	-0.831954	0.00004	T	-0.965487	0.00217	T	.	.	.	0.572443	0.20452	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	0.32005	B	.	.	0.464521	0.08344	5.092	0.63466116940903872	0.07231	0.00546	0.02508	N	AEFBI	.	.	.	.	.	.	.	.	.	0.0869984702313369	0.16023	0.099367	0.02607	0	0.104858	0.03167	0	0.059349	0.00372	0	0.117559	0.03655	0	0.0519227	0.10831	0.429	0.429	0.15721	0.376000	0.20265	0.844000	0.22071	0.539000	0.25131	0.006000	0.17386	0.004000	0.18990	0.010000	0.09038	.	.	.	895	0.25842	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	.	.	.	.	.	.	.	.	0.02632	204.33	19	chr7	73553638	.	A	C	204.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.536;DP=338;ExcessHet=0;FS=0;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.6;ReadPosRankSum=-1.137;SOR=1.179	GT:AD:DP:GQ:PL	0/1:6,8:14:99:218,0,137	18	0	1	0
chr7	82951071	82951071	G	A	exonic	PCLO	.	nonsynonymous SNV	PCLO:NM_014510:exon6:c.C9517T:p.L3173F,PCLO:NM_033026:exon6:c.C9517T:p.L3173F	.	.	.	.	.	.	.	.	.	.	.	1483890	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.059	0.00429554454332	8.2e-05	0.000599042	9.179e-05	0	8.75e-05	0.0006	0	6.037e-05	0	6.103e-05	9.06e-05	14	154602	rs140332141	5.884e-05	5.883e-05	5.173e-05	6.602e-05	0.0012	4.877e-05	4.497e-05	0.0010	0.0009	0	0.0002	0	0.0012	0	0	1.259e-05	0.0001	0.0001	0.0002	0.0002	0.0003	0.0001	0.0014	0.0001	0.0001	0.0007	0.0006	2.405e-05	0	0.0011	0	0.0014	0	0	0	0.0014	0	0.012	0.55530	D	0.383	0.15842	T	0.047	0.21998	B	0.032	0.22131	B	.	.	.	.	1	0.08975	N	.	.	.	2.22	0.18248	T	-2.18	0.49187	N	0.219	0.24510	-0.9779	0.35481	T	0.025	0.10866	T	9	0.023579389	0.00621	T	0.004296	0.10404	T	0.059	0.16972	.	.	0.110392049598	0.10638	0.4052033385504438	0.40436	0.0382972999509	0.04077	0.374280750751	0.21443	T	.	.	.	-0.513346	0.00480	T	-0.632432	0.10231	T	0.0331903534374123	0.02503	T	0.642936	0.26018	T	0.11874479	0.27973	0.22552694	0.47500	0.11874479	0.27972	0.22552694	0.47499	-5.344	0.40376	T	.	.	0.068	0.02797	B	.;.	.;.	2.305737	0.29507	18.15	0.92366393700038507	0.21770	0.26336	0.22964	N	AEFDBI	.	.	.	-0.295476564374107	0.29323	1.625053	-0.203698962968483	0.31404	1.776882	0.00140846876063466	0.08512	0.581397	0.33459	0	0.573888	0.26702	0	0.565031	0.19037	0	0.620846	0.47308	0	.	.	5.57	3.63	0.40741	2.463000	0.44715	5.181000	0.47864	0.618000	0.50648	0.988000	0.36536	1.000000	0.68203	0.987000	0.62547	0.1827:0.1276:0.503:0.1867	1.984	0.03224	888	0.27761	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1829.33	33	chr7	82951071	.	G	A	1829.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.22;DP=798;ExcessHet=0;FS=3.789;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=1.49;SOR=0.718	GT:AD:DP:GQ:PL	0/1:85,69:154:99:1843,0,2204	18	0	1	0
chr7	92150539	92150539	C	G	exonic	LRRD1	.	nonsynonymous SNV	LRRD1:NM_001384932:exon3:c.G326C:p.R109T,LRRD1:NM_001384933:exon3:c.G326C:p.R109T,LRRD1:NM_001384934:exon3:c.G326C:p.R109T,LRRD1:NM_001161528:exon4:c.G2273C:p.R758T	.	430	1081	11	0	0	11	0.00506213	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.583	0.258904812283	0.0004	0.000199681	0.0010	0	0	0	0.0006	0.0012	0	0.0013	0.0003558	55	154602	rs138031057	0.0012	0.0012	0.0013	0.0011	0.0048	0.0012	0.0011	0.0034	0.0029	3.197e-05	0.0004	0.0002	2.818e-05	0.0006	0.0048	0.0013	0.0014	0.0015	0.0009	0.0009	0.0010	0.0008	0.0017	0.0008	0.0007	0.0014	0.0013	0.0002	0	0.0003	0.0003	0	0.0003	0	0.0017	0.0024	0.0004	0.006	0.91255	D	0.011	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	.	.	.	.	0.997476	0.43918	D	2.455	0.71248	M	1.41	0.93111	T	-3.41	0.67129	D	0.432	0.47115	1.004	0.97261	D	0.907	0.96906	D	9	0.059993923	0.07301	T	0.258905	0.89426	D	0.583	0.83249	.	.	0.592167511858	0.58893	0.3163444304276735	0.31547	.	.	0.525310754776	0.42374	T	0.007308	0.06724	T	0.0873978	0.62896	D	0.33375	0.89663	D	0.0980810827425068	0.12145	T	0.605339	0.35069	T	0.47638044	0.65680	0.44925976	0.67942	0.47638044	0.65681	0.44925976	0.67942	-3.62	0.18147	T	.	.	0.339	0.67234	B	.;.;.	.;.;.	4.038526	0.59774	24.1	0.98599194234732856	0.43480	0.94075	0.60037	D	AEFBI	0.539851	0.55666	D	0.830207605354918	0.87955	9.400344	0.78953061503898	0.89055	9.820915	0.999820471907713	0.43622	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.76	5.76	0.90726	3.759000	0.54939	4.855000	0.45413	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	17.741	0.88315	273	0.89298	.;.;.	.	.	.	.	.	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	0.002506	0.000000	0.000000	0.000000	0.000000	0.000000	0.005814	0.012821	0.02632	997.33	33	chr7	92150539	.	C	G	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.212;DP=677;ExcessHet=0;FS=3.531;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.792;SOR=0.36	GT:AD:DP:GQ:PL	0/1:26,41:67:99:1011,0,599	18	0	1	0
chr7	93101432	93101432	C	T	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G4666A:p.A1556T,SAMD9:NM_017654:exon3:c.G4666A:p.A1556T	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	1	1496	25	0	0	25	0.00828638	.	.	.	700284	Inborn_genetic_diseases|not_specified|not_provided	MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.048	.	0.0048	0.00359425	0.0059	0.0015	0.0049	0	0.0073	0.0083	0.0099	0.0017	0.0057632	891	154602	rs34896991	0.0063	0.0063	0.0064	0.0062	0.0071	0.0062	0.0062	0.0070	0.0070	0.0008	0.0065	0.0021	0.0003	0.0072	0.0043	0.0071	0.0054	0.0019	0.0045	0.0045	0.0044	0.0047	0.0068	0.0043	0.0041	0.0062	0.0060	0.0012	0	0.0052	0.0023	0.0002	0.0072	0.0034	0.0068	0.0052	0.0010	0.212	0.19500	T	0.079	0.42086	T	0.008	0.14655	B	0.003	0.08700	B	0.754046	0.09677	N	0.865024	1	0.08975	N	1.355	0.33814	L	1.86	0.24285	T	-0.71	0.20145	N	0.025	0.01004	-1.0039	0.28785	T	0.035	0.15247	T	10	0.0029645562	0.00048	T	.	.	.	0.048	0.13305	.	.	0.348983352498	0.34513	0.6272587216299133	0.62658	0.160453842273	0.18105	0.292616605759	0.09304	T	0.003878	0.03292	T	-0.657699	0.00065	T	-0.709554	0.05318	T	0.00963621829570929	0.00125	T	0.454355	0.12956	T	0.027358465	0.01916	0.046490066	0.06491	0.03489814	0.04004	0.046490066	0.06491	-3.564	0.17338	T	0.3150631741536978	0.41308	0.071	0.03925	B	.;.	.;.	0.561062	0.09297	6.078	0.88000363444403584	0.17641	0.07416	0.13435	N	AEFBI	0.050557	0.08847	N	-1.05932818597743	0.07406	0.3439248	-1.10292291870029	0.07644	0.3726435	0.027901927115823	0.13801	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.34	-2.05	0.06916	0.640000	0.24394	-0.433000	0.09209	-0.813000	0.03045	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7081:0.0:0.2919	10.236	0.42457	808	0.43318	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005539	0.000000	0.006793	0.000000	0.000000	0.008621	0.012195	0.003788	0.02632	662.33	33	chr7	93101432	.	C	T	662.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.238;DP=686;ExcessHet=0;FS=2.584;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.42;ReadPosRankSum=-1.564;SOR=1.148	GT:AD:DP:GQ:PL	0/1:34,24:58:99:676,0,911	18	0	1	0
chr7	93102965	93102965	C	G	exonic	SAMD9	.	nonsynonymous SNV	SAMD9:NM_001193307:exon2:c.G3133C:p.G1045R,SAMD9:NM_017654:exon3:c.G3133C:p.G1045R	MIRAGE syndrome, Autosomal dominant;Tumoral calcinosis, familial, normophosphatemic, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.038	0.00358717597943	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.121e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.32610	T	0.086	0.40909	T	0.013	0.16609	B	0.007	0.12992	B	0.038933	0.24228	N	0.350345	0.998976	0.21747	N	2.2	0.62015	M	1.96	0.22270	T	-0.4	0.15782	N	0.133	0.12913	-1.0400	0.17313	T	0.033	0.13986	T	10	0.07416803	0.11303	T	0.003587	0.08216	T	0.038	0.09825	0.132	0.03662	0.251639045875	0.24756	0.3058776317445259	0.30500	0.186022872039	0.20906	0.28491345048	0.08187	T	0.005275	0.11722	T	-0.261545	0.12721	T	-0.613468	0.11704	T	0.236644327640533	0.22264	T	0.470853	0.13943	T	0.04599401	0.07624	0.049176365	0.07460	0.04599401	0.07624	0.049176365	0.07460	-5.327	0.40209	T	0.14989570008231407	0.17564	0.173	0.38025	B	.;.;.	.;.;.	2.737985	0.35852	20.1	0.81866065481440609	0.13900	0.88541	0.48516	D	AEFBI	0.296760	0.40652	N	-1.00286225320604	0.08544	0.4010124	-0.91137622340653	0.11826	0.6048167	0.111460904489544	0.16659	0.706298	0.61202	0	0.709663	0.81188	0	0.573888	0.23631	0	0.655142	0.61905	0	.	.	4.79	-0.384	0.11853	2.801000	0.47603	1.030000	0.23473	-1.635000	0.00848	0.985000	0.35982	0.000000	0.08366	0.009000	0.08673	0.0:0.5765:0.1236:0.2999	6.198	0.19775	806	0.43582	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	2997.96	237	chr7	93102965	.	C	G	2997.96	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-5.417;DP=3257;ExcessHet=17.0548;FS=143.104;InbreedingCoeff=-0.6131;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.833;SOR=12.62	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:164,47:211:99:.:.:276,0,4152:.	5	0	14	0
chr7	93996297	93996297	C	G	exonic	BET1	.	nonsynonymous SNV	BET1:NM_001317739:exon3:c.G169C:p.V57L,BET1:NM_005868:exon3:c.G169C:p.V57L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.134	0.0280556482367	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1226283124	1.121e-05	1.505e-05	8.372e-06	1.407e-05	1.465e-05	6.64e-06	5.37e-06	8.67e-06	7.02e-06	0	0	0	0	0	0	1.465e-05	0	0	6.595e-06	6.574e-06	1.289e-05	0	1.474e-05	0	0	.	.	0	0	0	0	0	0	0	1.474e-05	0	0	0.068	0.91255	T	0.076	0.92824	T	0.254	0.31272	B	0.323	0.41825	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.12	0.58754	M	.	.	.	-2.32	0.54382	N	0.596	0.67391	-0.5390	0.67201	T	0.336	0.70273	T	9	0.39718962	0.55310	T	0.028056	0.50789	D	0.197	0.47942	0.642	0.77903	0.345175991111	0.34120	0.4947836147715056	0.49399	0.203680317947	0.22786	0.664033174515	0.61986	T	0.21914	0.66025	T	0.345049	0.86175	D	0.257863	0.85992	D	0.758107244968414	0.43743	D	0.952005	0.88094	D	0.4227829	0.62276	0.33796772	0.59580	0.4227829	0.62277	0.33796772	0.59579	-6.28	0.48563	T	.	.	0.866	0.84405	P	.;.;.	.;.;.	4.146416	0.62163	24.4	0.99711438997443591	0.81353	0.97968	0.78509	D	AEFBI	0.677347	0.64208	D	0.25259867354802	0.53766	3.544266	0.340834713044124	0.57958	3.963703	0.999996830958607	0.74766	0.732398	0.92422	0	0.633656	0.55848	0	0.658983	0.55881	0	0.727631	0.95156	0	.	.	4.74	4.74	0.59717	4.689000	0.61410	4.459000	0.43452	0.587000	0.30956	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.024	0.86315	635	0.64580	Target SNARE coiled-coil homology domain|Target SNARE coiled-coil homology domain|BET1, SNARE domain;.;Target SNARE coiled-coil homology domain|BET1, SNARE 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	.	.	.	.	.	.	.	.	0.1316	140.19	80	chr7	93996297	.	C	G	140.19	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.925;DP=1871;ExcessHet=1.3;FS=322.429;InbreedingCoeff=-0.1734;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=0.26;ReadPosRankSum=0.561;SOR=12.381	GT:AD:DP:GQ:PL	0/1:70,31:108:46:46,0,1285	14	0	5	0
chr7	97990042	97990042	A	C	splicing	OCM2	NM_006188:exon1:c.61+2T>G	.	.	.	434	1084	4	0	0	4	0.00184162	1.0000	0.94	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1390112627	6.19e-06	0.0002	4.647e-06	7.73e-06	1.213e-05	2.66e-06	1.92e-06	2.19e-06	1.44e-06	0	0	0	0	2.223e-05	0	6.09e-06	0	1.213e-05	5.624e-05	0.0005	7.667e-05	3.375e-05	0.0002	2.634e-05	1.799e-05	3.139e-05	1.297e-05	3.124e-05	0	0.0002	0	0	0.0004	0	1.658e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186975	0.72684	D	0.0308008	0.72330	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.670646	0.74647	26.2	0.98603581146955932	0.43546	0.95746	0.65978	D	AEFGBI	.	.	.	0.845182211011962	0.88832	9.729144	0.616035010124485	0.76103	6.429953	0.00823670763233826	0.11637	0.053691	0.00478	0	0.059962	0.00310	0	0.060301	0.00762	0	0.057018	0.00518	0	0.784209	0.46363	3.49	3.49	0.39065	6.048000	0.70674	11.017000	0.84915	0.611000	0.49015	1.000000	0.71638	1.000000	0.68203	0.811000	0.38219	1.0:0.0:0.0:0.0	10.139	0.41900	663	0.61610	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05556	299.66	49	chr7	97990042	.	A	C	299.66	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-3.512;DP=1913;ExcessHet=0.119;FS=185.691;InbreedingCoeff=-0.0954;MLEAC=2;MLEAF=0.056;MQ=59.84;MQRankSum=0.493;QD=1.1;ReadPosRankSum=3.92;SOR=8.086	GT:AD:DP:GQ:PL	0/1:113,33:146:99:233,0,2142	16	0	2	1
chr7	99425250	99425250	C	T	exonic	ATP5MF-PTCD1;PTCD1	.	nonsynonymous SNV	PTCD1:NM_015545:exon6:c.G1282A:p.A428T,ATP5MF-PTCD1:NM_001198879:exon7:c.G1429A:p.A477T	.	419	1069	34	0	0	34	0.0156538	.	.	.	2825912	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.019	.	0.0012	0.00219649	0.0022	0.0005	0.0008	0	0.0002	0.0017	0.0044	0.0083	0.0020504	317	154602	rs147045279	0.0017	0.0017	0.0014	0.0019	0.0141	0.0016	0.0016	0.0116	0.0107	0.0005	0.0011	0.0015	0	5.628e-05	0.0141	0.0012	0.0022	0.0087	0.0014	0.0014	0.0013	0.0015	0.0075	0.0013	0.0012	0.0055	0.0049	0.0004	0	0.0018	0.0017	0	9.416e-05	0.0170	0.0017	0.0033	0.0075	0.628	0.05262	T	0.581	0.08476	T	0.036	0.23119	B	0.005	0.19346	B	0.323285	0.14234	N	0.719311	1	0.08975	N	0.345	0.11182	N	-0.12	0.64630	T	0.44	0.03243	N	0.189	0.21056	-1.0264	0.21625	T	0.105	0.38464	T	10	0.0060635805	0.00136	T	.	.	.	0.019	0.03383	.	.	0.253205268125	0.24938	0.2198370897639818	0.24760	0.0920449276398	0.10393	0.221883535385	0.01422	T	0.010152	0.09188	T	-0.504016	0.00543	T	-0.490363	0.23352	T	0.000743209232149787	0.00007	T	0.238576	0.03390	T	0.021128131	0.00700	0.034246337	0.02459	0.021128131	0.00700	0.034246337	0.02459	-4.056	0.24639	T	.	.	0.066	0.02927	B	.;.	.;.	0.545576	0.09141	5.925	0.65804664471432339	0.07877	0.01854	0.05730	N	AEFBI	0.028975	0.02651	N	-1.14432020220704	0.05874	0.2689332	-1.10255730857523	0.07651	0.3730167	1.45210377330431E-4	0.05573	0.719381	0.83141	0	0.702456	0.74545	0	0.723133	0.82415	0	0.635551	0.53088	0	.	.	5.66	2.75	0.31439	0.236000	0.17745	1.932000	0.29777	-0.107000	0.15377	0.002000	0.15269	0.962000	0.29361	0.034000	0.13613	0.3204:0.1307:0.5489:0.0	6.653	0.22162	400	0.82730	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.006042	0.005051	0.006793	0.005848	0.000000	0.008621	0.006098	0.007576	0.05263	3055.83	37	chr7	99425250	.	C	T	3055.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.51;DP=824;ExcessHet=0.119;FS=1.621;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.64;ReadPosRankSum=0.911;SOR=0.771	GT:AD:DP:GQ:PL	0/1:58,50:108:99:1251,0,1474	17	0	2	0
chr7	100175805	100175805	G	C	exonic	GPC2	.	nonsynonymous SNV	GPC2:NM_152742:exon3:c.C415G:p.L139V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.0084618148058	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	5.746e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.215	0.19293	T	0.264	0.22761	T	0.002	0.09854	B	0.003	0.08700	B	0.011788	0.29400	N	0.319847	0.999984	0.18198	N	1.1	0.28011	L	0.82	0.48142	T	0.09	0.05917	N	0.115	0.10340	-1.0389	0.17648	T	0.045	0.19194	T	10	0.06973243	0.10047	T	0.008462	0.22382	T	0.015	0.02232	0.409	0.44395	0.260249123532	0.25628	0.12418845572528417	0.12344	0.308157786748	0.33120	0.309577137232	0.11843	T	0.086908	0.37827	T	-0.283254	0.10325	T	-0.644651	0.09334	T	0.086081848684672	0.10746	T	0.442656	0.12286	T	0.043123998	0.06666	0.05641909	0.10077	0.043123998	0.06665	0.05641909	0.10077	-4.159	0.26155	T	.	.	0.065	0.01960	B	.	.	1.692672	0.21567	15.25	0.93331368040686369	0.23058	0.23428	0.22073	N	AEFBI	0.121001	0.23544	N	-0.863199556233683	0.11727	0.5675084	-0.716315475991125	0.16555	0.876308	0.999171803000595	0.38651	0.52065	0.21626	1	0.588066	0.40923	0	0.719019	0.79029	0	0.604944	0.38103	0	.	.	5.06	2.18	0.26813	0.676000	0.24927	3.139000	0.36475	-0.186000	0.09761	0.000000	0.06391	1.000000	0.68203	0.968000	0.53726	0.0949:0.3504:0.5547:0.0	7.051	0.24254	285	0.88719	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	18116.3	121	chr7	100175805	.	G	C	18116.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.889;DP=2073;ExcessHet=38.2876;FS=367.033;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=9.32;ReadPosRankSum=0.937;SOR=13.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:58,22:80:99:0|1:100175805_G_C:583,0,2335:100175805	1	0	18	0
chr7	100182145	100182145	C	A	exonic	STAG3	.	nonsynonymous SNV	STAG3:NM_001282716:exon3:c.C172A:p.R58S,STAG3:NM_001282717:exon3:c.C172A:p.R58S,STAG3:NM_001282718:exon3:c.C172A:p.R58S,STAG3:NM_001375438:exon3:c.C172A:p.R58S,STAG3:NM_012447:exon3:c.C172A:p.R58S	Premature ovarian failure 8, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	2337196	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.102	0.0155703864952	.	.	3.299e-05	0	0	0	0	6e-05	0	0	3.23e-05	5	154602	rs200232685	5.474e-05	5.541e-05	6.808e-05	4.126e-05	6.708e-05	4.478e-05	4.148e-05	5.074e-05	4.653e-05	0	6.708e-05	3.827e-05	0	0	0	6.295e-05	1.657e-05	5.797e-05	2.634e-05	2.627e-05	1.287e-05	4.047e-05	5.884e-05	8.16e-06	5.15e-06	1.973e-05	1.125e-05	0	0	0	0	0	0	0	5.884e-05	0	0	0.003	0.68238	D	0.029	0.92824	D	0.001	0.07471	B	0.006	0.12133	B	0.091610	0.20317	N	0.370961	1	0.08975	N	2.27	0.64531	M	1.88	0.27822	T	-1.07	0.83292	N	0.27	0.46649	-0.9610	0.38993	T	0.075	0.30242	T	10	0.12378469	0.23502	T	0.01557	0.36375	T	0.102	0.29158	0.222	0.14518	0.499535901811	0.49588	0.2756263458948395	0.27475	0.52393785997	0.50099	0.201897025108	0.00514	T	0.060095	0.40061	T	-0.285392	0.10104	T	-0.471876	0.25314	T	0.0947954803705215	0.11774	T	0.762324	0.38756	T	0.121911734	0.28657	0.09539669	0.22623	0.121911734	0.28657	0.09539669	0.22622	-3.038	0.10596	T	.	.	0.218	0.63329	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.052868	0.14339	10.92	0.96174661909403381	0.28939	0.05646	0.11558	N	AEFDBI	0.122012	0.23696	N	-0.435859252129776	0.24223	1.306374	-0.488076874729883	0.22480	1.221267	0.991180587039367	0.32402	0.653281	0.48532	0	0.547309	0.14657	0	0.675528	0.61593	0	0.542086	0.14980	0	.	.	4.6	4.6	0.56512	0.158000	0.16239	-0.225000	0.10728	-0.276000	0.06580	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:1.0:0.0:0.0	13.067	0.58452	278	0.89047	.;.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1688.33	38	chr7	100182145	.	C	A	1688.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.994;DP=847;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.89;ReadPosRankSum=0.274;SOR=0.732	GT:AD:DP:GQ:PL	0/1:69,73:142:99:1702,0,1462	18	0	1	0
chr7	100562303	100562303	G	A	exonic	AGFG2	.	nonsynonymous SNV	AGFG2:NM_006076:exon7:c.G922A:p.A308T	.	398	1117	7	0	0	7	0.00312361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.050	.	0.0052	0.00259585	0.0063	0.0005	0.0025	0	0.0294	0.0073	0.0044	0.0024	0.0059378	918	154602	rs147498213	0.0072	0.0072	0.0074	0.0069	0.0074	0.0071	0.0070	0.0073	0.0072	0.0011	0.0031	0.0041	0	0.0261	0.0038	0.0074	0.0057	0.0026	0.0070	0.0070	0.0060	0.0079	0.0075	0.0066	0.0065	0.0070	0.0068	0.0016	0.0011	0.0054	0.0040	0	0.0342	0	0.0075	0.0062	0.0012	0.529	0.07048	T	0.384	0.15794	T	0.036	0.20732	B	0.005	0.11217	B	0.275701	0.15041	N	0.651840	1	0.81001	D	1.745	0.45235	L	1.82	0.25018	T	-0.66	0.19085	N	0.05	0.02179	-1.0525	0.13709	T	0.027	0.11618	T	10	0.002654612	0.00041	T	.	.	.	0.050	0.13987	.	.	0.0297737177859	0.01360	0.4199298073848164	0.41908	0.304500079718	0.32754	0.321576416492	0.13661	T	0.008227	0.07566	T	-0.573428	0.00211	T	-0.588505	0.13795	T	0.00125930116032515	0.00012	T	0.541246	0.18358	T	0.0203131	0.00586	0.03746761	0.03407	0.0203131	0.00586	0.03746761	0.03407	-4.475	0.30560	T	.	.	0.071	0.03736	B	.	.	0.874942	0.12478	9.011	0.87287483406138588	0.17120	0.44155	0.27256	N	AEFDBCI	0.057516	0.10720	N	-1.3036995822345	0.03633	0.162622	-1.21166962651975	0.05722	0.2734266	0.999674898766267	0.41644	0.67177	0.52595	0	0.702456	0.74545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	4.8	1.06	0.19341	0.386000	0.20429	3.350000	0.37777	-3.602000	0.00072	0.536000	0.27236	1.000000	0.68203	0.001000	0.02609	0.2714:0.0:0.7286:0.0	8.952	0.34953	.	.	.	.	.	.	.	chr7:100159926	Likely benign	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	0.004028	0.000000	0.001359	0.005848	0.000000	0.000000	0.009146	0.003788	0.02632	1353.33	33	chr7	100562303	.	G	A	1353.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.972;DP=739;ExcessHet=0;FS=6.26;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.14;ReadPosRankSum=0.481;SOR=0.326	GT:AD:DP:GQ:PL	0/1:46,57:103:99:1367,0,949	18	0	1	0
chr7	100613631	100613631	G	C	exonic	MOSPD3	.	nonsynonymous SNV	MOSPD3:NM_001040099:exon3:c.G406C:p.G136R,MOSPD3:NM_023948:exon3:c.G436C:p.G146R,MOSPD3:NM_001040097:exon4:c.G436C:p.G146R,MOSPD3:NM_001040098:exon4:c.G436C:p.G146R,MOSPD3:NM_001363415:exon4:c.G436C:p.G146R,MOSPD3:NM_001363416:exon4:c.G436C:p.G146R	.	434	1086	2	0	0	2	0.000919963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.086	0.00464972261195	0.0008	0.000798722	0.0013	0	0.0003	0	0.0002	0.0021	0.0011	0.0008	0.0012613	195	154602	rs137921044	0.0011	0.0011	0.0011	0.0012	0.0043	0.0011	0.0010	0.0030	0.0026	0.0002	0.0004	0.0003	0	0.0002	0.0043	0.0013	0.0012	0.0010	0.0008	0.0008	0.0007	0.0009	0.0015	0.0007	0.0006	0.0010	0.0009	0.0003	0	0.0015	0	0	9.422e-05	0.0068	0.0010	0.0043	0.0004	0.095	0.31235	T	0.204	0.27235	T	0.392	0.34646	B	0.265	0.39681	B	0.228109	0.15983	N	0.562918	0.995363	0.43707	D	0	0.06538	N	.	.	.	-1.96	0.45404	N	0.466	0.50237	-1.0458	0.15592	T	0.116	0.41097	T	9	0.009234905	0.00209	T	0.00465	0.11534	T	0.086	0.25016	0.128	0.03331	0.416202232284	0.41236	0.3452238182820563	0.34436	0.761597943512	0.64286	0.649458944798	0.59909	T	0.192928	0.54824	T	-0.335457	0.05709	T	-0.267867	0.48035	T	0.0182981109104174	0.00549	T	0.858514	0.54939	D	0.12973379	0.30292	0.14189322	0.33776	0.12973379	0.30292	0.14189322	0.33775	-3.185	0.14695	T	.	.	0.159	0.36908	B	.;.;.;.;.	.;.;.;.;.	3.095149	0.41689	21.4	0.9951831737054706	0.69100	0.81012	0.40509	D	AEFGBCI	0.731940	0.67885	D	0.0762909080252874	0.45358	2.793705	0.176137047585506	0.48542	3.068813	0.999999984665784	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.651492	0.60203	0	.	.	4.12	4.12	0.47504	2.644000	0.46279	9.207000	0.79216	0.658000	0.54486	1.000000	0.71638	1.000000	0.68203	0.927000	0.46353	0.0:0.0:1.0:0.0	14.691	0.68694	702	0.57624	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.005051	0.002717	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	708.33	36	chr7	100613631	.	G	C	708.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.875;DP=730;ExcessHet=0;FS=17.74;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.85;ReadPosRankSum=-1.887;SOR=2.477	GT:AD:DP:GQ:PL	0/1:49,31:80:99:722,0,1342	18	0	1	0
chr7	100773851	100773851	A	0	exonic	ZAN	.	.	.	.	428	140	242	44	668	998	0.540984	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	7629.63	110	chr7	100773851	.	A	*	7629.63	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.304;DP=2087;ExcessHet=1.1637;FS=0;InbreedingCoeff=-0.0192;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=3.84;ReadPosRankSum=0.752;SOR=0.671	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,105:105:99:1|1:100773849_CCAT_C:4717,316,0:100773849	3	9	7	0
chr7	100779666	100779666	C	T	exonic	ZAN	.	nonsynonymous SNV	ZAN:NM_003386:exon35:c.C6538T:p.L2180F,ZAN:NM_173059:exon35:c.C6538T:p.L2180F	.	414	1084	24	0	0	24	0.0109489	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.283	0.01989167839	0.0007	0.000998403	0.0031	0	0	0	0.0010	0.0036	0	0.0048	0.0013001	201	154602	rs368183208	0.0014	0.0014	0.0012	0.0015	0.0088	0.0013	0.0013	0.0068	0.0061	0.0002	0.0005	0.0003	0	0.0002	0.0088	0.0013	0.0017	0.0045	0.0009	0.0009	0.0007	0.0011	0.0025	0.0008	0.0007	0.0014	0.0011	0.0003	0	0.0016	0	0	9.413e-05	0.0136	0.0011	0.0038	0.0025	.	.	.	0.091	0.40426	T	0.907	0.50062	P	0.642	0.52168	P	0.650508	0.10517	N	0.773450	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.095	0.08646	-0.5645	0.66231	T	0.379	0.73640	T	9	0.049238354	0.04484	T	0.019892	0.42364	T	0.283	0.60100	.	.	0.0401082797425	0.02173	0.6052475545878986	0.60455	0.0746738777092	0.08380	0.309243559837	0.11792	T	0.126171	0.45237	T	-0.328308	0.06241	T	-0.243964	0.50411	T	0.102104824956605	0.12587	T	0.569643	0.20265	T	0.046199527	0.07691	0.06566402	0.13342	0.046199527	0.07691	0.06566402	0.13342	-7.077	0.57491	T	.	.	0.107	0.20235	B	.;.;.;.	.;.;.;.	1.834756	0.23309	15.97	0.99104606594449074	0.52572	0.28562	0.23588	N	AEFBI	0.068160	0.13433	N	-0.216513731733043	0.32457	1.830584	-0.335393843403519	0.26965	1.493027	8.95811513548799E-6	0.01202	0.06567	0.01388	0	0.059962	0.00310	0	0.044551	0.00207	1	0.075334	0.01956	0	.	.	4.17	2.29	0.27658	1.386000	0.34025	0.521000	0.19165	-0.175000	0.10903	0.892000	0.31242	0.087000	0.22477	0.020000	0.11549	0.2413:0.6457:0.0:0.113	4.804	0.12677	684	0.59539	Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich;Uncharacterised domain, cysteine-rich|Uncharacterised domain, cysteine-rich	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.005051	0.006793	0.014881	0.000000	0.000000	0.003067	0.007576	0.02632	1105.33	37	chr7	100779666	.	C	T	1105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.24;DP=811;ExcessHet=0;FS=2.766;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.28;ReadPosRankSum=-0.723;SOR=1.005	GT:AD:DP:GQ:PL	0/1:46,44:90:99:1119,0,1031	18	0	1	0
chr7	100787956	100787956	G	0	exonic	ZAN	.	.	.	.	0	48	9	0	169	178	0.0857143	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6842	1912.83	137	chr7	100787956	.	G	*	1912.83	.	AC=26;AF=0.684;AN=38;BaseQRankSum=0.734;DP=2414;ExcessHet=2.8258;FS=4.34;InbreedingCoeff=-0.1515;MLEAC=26;MLEAF=0.684;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=-1.014;SOR=0.992	GT:AD:DP:GQ:PL	1/1:0,110:110:99:4957,339,0	2	9	8	0
chr7	100952945	100952945	C	0	exonic	MUC3A	.	.	.	.	418	423	166	0	515	681	0.164032	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	7294.67	944	chr7	100952945	.	C	*	7294.67	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-0.282;DP=12658;ExcessHet=48.2876;FS=0;InbreedingCoeff=-1;MLEAC=14;MLEAF=0.368;MQ=57.98;MQRankSum=-8.296;QD=0.58;ReadPosRankSum=2.64;SOR=0.686	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:416,162:651:99:0|1:100952942_T_G:5550,0,16980:100952942	5	0	14	0
chr7	100953225	100953225	G	0	exonic	MUC3A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	3612.6	563	chr7	100953225	.	G	*	3612.6	.	AC=5;AF=0.132;AN=38;BaseQRankSum=4.03;DP=7885;ExcessHet=20.8569;FS=1.9;InbreedingCoeff=-0.6525;MLEAC=4;MLEAF=0.105;MQ=58.04;MQRankSum=-18.59;QD=0.58;ReadPosRankSum=-5.535;SOR=1.037	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:376,31:434:99:0|1:100953225_G_A:146,0,15676:100953225	14	0	5	0
chr7	101006477	101006477	G	T	exonic	MUC12	.	nonsynonymous SNV	MUC12:NM_001164462:exon3:c.G14963T:p.C4988F	.	423	1086	13	0	0	13	0.00594966	.	.	.	2826021	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.531	0.618071323826	.	0.00119808	0.0043	0	0	0	0	0.0007	0.0045	0.0098	0.0006209	96	154602	rs555137488	0.0008	0.0008	0.0006	0.0011	0.0094	0.0008	0.0008	0.0088	0.0086	3.166e-05	0.0004	0.0004	0	2.858e-05	0.0061	0.0003	0.0010	0.0094	0.0005	0.0005	0.0004	0.0006	0.0075	0.0004	0.0004	0.0055	0.0049	0.0001	0	0.0005	0.0017	0	9.418e-05	0	0.0003	0.0009	0.0075	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003841	0.34414	U	0.000000	1	0.08975	N	1.87	0.49600	L	-5.93	0.99452	D	-7.14	0.94758	D	0.616	0.75742	0.902	0.95695	D	0.930	0.97676	D	8	0.027742267	0.00915	T	0.618071	0.96685	D	0.531	0.80247	.	.	0.582828786496	0.57955	0.4040606043396441	0.40322	.	.	0.411843717098	0.26711	T	0.067262	0.33158	T	0.133226	0.67674	D	0.42627	0.92939	D	0.121136840750695	0.14540	T	0.269973	0.04523	T	0.81543064	0.84914	0.725981	0.83814	0.81543064	0.84915	0.725981	0.83815	-9.377	0.70091	D	.	.	0.935	0.85467	P	.;.	.;.	2.446749	0.31499	18.76	0.61464251856208296	0.06715	0.26942	0.23137	N	AEFBI	0.149320	0.27339	N	-0.340929966810357	0.27607	1.516022	-0.452273794028015	0.23484	1.280957	4.11484181190949E-4	0.06899	0.553676	0.25195	0	0.588015	0.36545	0	0.608075	0.38828	0	0.542086	0.14980	0	.	.	2.83	2.83	0.32150	3.302000	0.51557	5.265000	0.48134	0.597000	0.34315	0.487000	0.26855	1.000000	0.68203	0.039000	0.14166	0.0:0.0:1.0:0.0	9.762	0.39704	818	0.41518	.;.	.	.	.	.	.	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	0.003432	0.000000	0.000000	0.000000	0.000000	0.000000	0.011494	0.000000	0.05263	3723.83	33	chr7	101006477	.	G	T	3723.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.881;DP=922;ExcessHet=0.119;FS=0.855;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.71;ReadPosRankSum=0.196;SOR=0.759	GT:AD:DP:GQ:PL	0/1:77,91:168:99:2230,0,2110	17	0	2	0
chr7	101210137	101210137	C	T	exonic	PLOD3	.	nonsynonymous SNV	PLOD3:NM_001084:exon15:c.G1639A:p.E547K	Lysyl hydroxylase 3 deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.372	0.0343344740907	.	.	3.173e-05	0	0	0.0002	0	0	0	9.513e-05	1.94e-05	3	154602	rs557730054	8.245e-06	8.209e-06	1.093e-05	5.53e-06	0.0002	4.4e-06	3.47e-06	4.928e-05	3.179e-05	0	0	0	0.0001	0	0.0002	2.705e-06	1.663e-05	2.352e-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	0.64	0.05002	T	0.173	0.30143	T	0.184	0.29209	B	0.023	0.19966	B	0.000962	0.40836	D	0.157726	0.971873	0.38903	D	1.79	0.46772	L	-1.8	0.83893	D	-1.09	0.28290	N	0.339	0.38027	-0.3168	0.74511	T	0.407	0.75635	T	10	0.2069689	0.36976	T	0.034334	0.55607	D	0.372	0.69102	0.419	0.46036	0.884155090706	0.88301	0.6769475058907666	0.67633	0.155923579576	0.17597	0.666646182537	0.62359	T	0.269341	0.64153	T	-0.143067	0.29403	T	-0.173982	0.57079	T	0.17371000149946	0.18829	T	0.819518	0.47762	T	0.16991344	0.37535	0.103196494	0.24755	0.16991344	0.37535	0.103196494	0.24754	-6.775	0.52373	T	0.15105447194695118	0.17792	0.073	0.04847	B	.	.	3.152801	0.42685	21.6	0.99736854242939288	0.83192	0.94092	0.60088	D	AEFDBI	0.314451	0.41931	N	-0.0349648210324888	0.40275	2.389149	0.066438603771538	0.42874	2.600969	0.0326179359667938	0.14063	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.71	3.76	0.42368	1.712000	0.37560	2.552000	0.33269	0.524000	0.24156	0.845000	0.30364	0.990000	0.31317	0.709000	0.34421	0.0:0.7936:0.2063:0.0	9.989	0.41030	877	0.30165	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	687.33	36	chr7	101210137	.	C	T	687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.625;DP=694;ExcessHet=0;FS=2.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.97;ReadPosRankSum=0.718;SOR=0.643	GT:AD:DP:GQ:PL	0/1:23,30:53:99:701,0,448	18	0	1	0
chr7	102934282	102934282	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G369C:p.E123D,LRRC17:NM_005824:exon2:c.G369C:p.E123D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	635.49	33	chr7	102934282	.	G	C	635.49	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-5.875;DP=1880;ExcessHet=0.7564;FS=169.914;InbreedingCoeff=-0.1189;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=1.04;ReadPosRankSum=0.672;SOR=10.397	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,38:197:99:0|1:102934282_G_C:238,0,5511:102934282	15	0	4	0
chr7	102934283	102934283	G	C	exonic	LRRC17	.	nonsynonymous SNV	LRRC17:NM_001031692:exon2:c.G370C:p.A124P,LRRC17:NM_005824:exon2:c.G370C:p.A124P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2222	1131.3	125	chr7	102934283	.	G	C	1131.3	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-5.038;DP=2763;ExcessHet=4.0268;FS=178.434;InbreedingCoeff=-0.28;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=0.387;SOR=11.693	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:159,38:197:99:0|1:102934282_G_C:238,0,5511:102934282	10	0	8	1
chr7	110886666	110886666	T	C	exonic	IMMP2L	.	nonsynonymous SNV	IMMP2L:NM_032549:exon5:c.A335G:p.K112R,IMMP2L:NM_001244606:exon6:c.A335G:p.K112R,IMMP2L:NM_001350960:exon6:c.A335G:p.K112R,IMMP2L:NM_001350959:exon7:c.A335G:p.K112R,IMMP2L:NM_001350961:exon7:c.A419G:p.K140R	.	420	1095	6	1	0	8	0.00363967	.	.	.	3208172	IMMP2L-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.088	.	.	0.00139776	0.0017	9.617e-05	0.0004	0	0	9.017e-05	0.0033	0.0114	0.0014165	219	154602	rs200836792	0.0008	0.0008	0.0005	0.0010	0.0104	0.0007	0.0007	0.0098	0.0096	3.014e-05	0.0004	0	0	0	0.0010	9.616e-05	0.0011	0.0104	0.0004	0.0004	0.0003	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	9.625e-05	0	0.0002	0	0	0	0.0034	0.0002	0	0.0091	0.549	0.09514	T	0.749	0.23365	T	0.002	0.09854	B	0.012	0.16012	B	0.000013	0.62929	N	0.147879	0.976498	0.27063	N	0.415	0.12483	N	.	.	.	-0.22	0.10480	N	0.223	0.25006	-1.0695	0.09523	T	0.065	0.26983	T	9	0.009037107	0.00205	T	.	.	.	0.088	0.25558	.	.	0.3349148499	0.33108	0.33534223347946146	0.33447	0.11506021578	0.12980	0.315772652626	0.12780	T	0.087393	0.37932	T	-0.552624	0.00281	T	-0.557187	0.16642	T	0.0130221574993659	0.00227	T	0.788521	0.42806	T	0.05327822	0.10058	0.054215528	0.09283	0.05327822	0.10058	0.054215528	0.09283	-3.643	0.18481	T	.	.	0.083	0.09917	B	.;.;.;.	.;.;.;.	0.617529	0.09862	6.622	0.99194142721685719	0.55083	0.66508	0.33103	D	AEFI	0.160326	0.28625	N	-0.850501583370816	0.12038	0.5843677	-0.663273397227511	0.17882	0.952834	1.59830198516366E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.653264	0.51672	0	0.668105	0.65232	0	.	.	5.58	0.414	0.15624	0.668000	0.24808	0.446000	0.18474	-0.817000	0.03001	0.999000	0.42656	0.999000	0.35428	0.888000	0.42677	0.0:0.2617:0.0:0.7383	9.663	0.39132	639	0.64210	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.002014	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.007576	0.07895	7832.79	34	chr7	110886666	.	T	C	7832.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.03;DP=1192;ExcessHet=0.3672;FS=0.519;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.316;SOR=0.736	GT:AD:DP:GQ:PL	0/1:114,115:229:99:2656,0,2814	16	0	3	0
chr7	134947563	134947563	G	A	exonic	CALD1	.	nonsynonymous SNV	CALD1:NM_033140:exon5:c.G805A:p.V269M,CALD1:NM_033139:exon6:c.G883A:p.V295M,CALD1:NM_004342:exon7:c.G823A:p.V275M,CALD1:NM_033138:exon8:c.G1588A:p.V530M,CALD1:NM_033157:exon8:c.G901A:p.V301M	.	420	1096	6	0	0	6	0.00272975	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.165	.	0.0067	0.00359425	0.0124	0.0016	0.0063	0	0.0275	0.0228	0	0.0048	0.0058279	901	154602	rs35067327	0.0099	0.0098	0.0099	0.0098	0.0115	0.0097	0.0097	0.0113	0.0112	0.0014	0.0024	0.0055	0	0.0083	0.0030	0.0115	0.0074	0.0042	0.0067	0.0067	0.0072	0.0062	0.0117	0.0063	0.0062	0.0110	0.0108	0.0016	0.0088	0.0016	0.0075	0	0.0071	0	0.0117	0.0038	0.0029	0.042	0.54683	D	0.138	0.41074	T	0.514	0.61523	P	0.452	0.64260	P	0.018803	0.27398	N	0.169689	0.985209	0.24732	N	2.32	0.66415	M	0.65	0.52642	T	-0.51	0.23156	N	0.29	0.46368	-0.8706	0.50484	T	0.181	0.52889	T	10	0.008723199	0.00198	T	.	.	.	0.165	0.42395	.	.	0.524636165829	0.52109	0.012877679915604491	0.01245	0.146789417381	0.16567	0.558288216591	0.47026	T	0.116245	0.62507	T	-0.43735	0.01340	T	-0.387373	0.34861	T	0.051932320686832	0.05836	T	0.963754	0.87984	D	0.0527335	0.09877	0.07530616	0.16567	0.0527335	0.09876	0.07530616	0.16566	-4.949	0.38117	T	.	.	0.156	0.40392	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	3.798384	0.54714	23.5	0.95788504027778065	0.27823	0.76453	0.37497	D	AEFDBI	0.415837	0.48454	N	-0.118425637966304	0.36591	2.117086	-0.222554232845467	0.30729	1.73274	0.99991753074218	0.45857	0.706548	0.73137	0	0.59043	0.45803	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.94	4.06	0.46572	2.469000	0.44768	10.635000	0.83508	0.590000	0.31872	1.000000	0.71638	1.000000	0.68203	0.065000	0.16320	0.0854:0.153:0.7616:0.0	8.680	0.33367	846	0.36215	.;.;.;.;.;.;.;.	.	.	.	.	rs35067327	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005285	0.000000	0.005556	0.003546	0.000000	0.000000	0.009494	0.011538	0.05263	1149.83	33	chr7	134947563	.	G	A	1149.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.85;DP=710;ExcessHet=0.119;FS=4.907;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.06;ReadPosRankSum=0.907;SOR=1.203	GT:AD:DP:GQ:PL	0/1:25,22:47:99:502,0,631	17	0	2	0
chr7	142773313	142773313	G	A	exonic	PRSS2	.	nonsynonymous SNV	PRSS2:NM_002770:exon3:c.G248A:p.G83E,PRSS2:NM_001303414:exon4:c.G290A:p.G97E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs751548923	4.79e-05	0.0002	5.991e-05	3.576e-05	6.207e-05	3.861e-05	3.541e-05	4.988e-05	4.57e-05	2.987e-05	0	0	0	0	0	6.207e-05	0	0	7.222e-05	0.0001	0.0001	2.686e-05	0.0002	3.968e-05	3.125e-05	9.048e-05	7.012e-05	0	0	0	0	0	0	0	0.0002	0	0	.	.	.	0.058	0.66756	T	.	.	.	.	.	.	0.000000	0.84330	D	0.089188	0.999989	0.54805	D	.	.	.	.	.	.	.	.	.	0.614	0.68603	0.132	0.84747	D	0.550	0.83527	D	10	0.91851616	0.91209	D	0.15379	0.83500	D	.	.	0.715	0.85051	.	.	0.6039606376462681	0.60327	.	.	0.43368434906	0.29712	T	0.079335	0.85921	T	0.329841	0.85154	D	0.236018	0.84960	D	0.993505120277405	0.84328	D	0.748625	0.36937	T	0.47272354	0.65458	0.65787554	0.79962	0.47272354	0.65458	0.65787554	0.79963	-8.265	0.62861	D	.	.	0.386	0.60068	A	.;.;.;.	.;.;.;.	4.172297	0.62744	24.5	0.99326982048274159	0.59622	0.94022	0.59878	D	AEFBI	.	.	.	0.0799654814585736	0.45529	2.807892	0.0130212056036111	0.40318	2.404278	0.59344749383873	0.21666	0.549168	0.22868	0	0.627178	0.54094	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	3.28	3.28	0.36691	6.614000	0.74067	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.002000	0.04165	0.1181:0.0:0.8819:0.0	9.163	0.36194	782	0.47442	Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain;Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain|Serine proteases, trypsin domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1014.33	35	chr7	142773313	.	G	A	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.005;DP=4110;ExcessHet=0;FS=1.456;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.58;MQRankSum=-4.495;QD=2.51;ReadPosRankSum=-0.388;SOR=0.525	GT:AD:DP:GQ:PL	0/1:327,77:404:99:1028,0,12061	18	0	1	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.162	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	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.013587	0.005848	0.000000	0.000000	0.012195	0.003788	0.05263	5459.83	35	chr7	142940391	.	C	T	5459.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.61;DP=1068;ExcessHet=0.119;FS=0.532;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.58;ReadPosRankSum=2.42;SOR=0.634	GT:AD:DP:GQ:PL	0/1:106,110:216:99:2749,0,2797	17	0	2	0
chr7	143382366	143382368	GGA	-	exonic	ZYX	.	nonframeshift deletion	ZYX:NM_001010972:exon3:c.327_329del:p.E112del,ZYX:NM_001362783:exon3:c.327_329del:p.E112del,ZYX:NM_003461:exon3:c.327_329del:p.E112del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368962801	1.041e-05	1.026e-05	1.102e-05	9.781e-06	0.0002	6.25e-06	4.95e-06	7.913e-05	5.601e-05	0	0.0002	0	0	0	0	6.359e-06	1.686e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2390.79	37	chr7	143382365	.	TGGA	T	2390.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.171;DP=769;ExcessHet=0.119;FS=1.385;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=16.96;ReadPosRankSum=-0.88;SOR=0.848	GT:AD:DP:GQ:PL	0/1:42,30:72:99:1134,0,1652	17	0	2	0
chr7	144184229	144184229	T	A	exonic	CTAGE4;CTAGE8	.	nonsynonymous SNV	CTAGE8:NM_001278507:exon1:c.T726A:p.N242K,CTAGE4:NM_198495:exon1:c.T726A:p.N242K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.00135166170972	.	.	1.014e-05	0	0	0	0	1.8e-05	0	0	3.84e-05	1	26028	rs755715670	4.246e-06	4.176e-06	5.636e-06	2.843e-06	5.56e-06	1.53e-06	1e-06	2e-06	1.31e-06	0	0	0	0	0	0	5.56e-06	0	0	0	6.974e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.09	0.31987	T	0.039	0.51112	D	0.254	0.31272	B	0.139	0.33484	B	.	.	.	.	1	0.08975	N	2.5	0.72771	M	1.34	0.34841	T	-2.9	0.60827	D	0.21	0.23380	-0.9474	0.41414	T	0.103	0.37894	T	8	0.13958481	0.26538	T	0.001352	0.01936	T	0.066	0.19193	0.248	0.18447	0.369309618794	0.36543	0.07207813145129931	0.07144	.	.	0.618998289108	0.55588	T	0.102705	0.41069	T	-0.360377	0.04109	T	-0.685595	0.06647	T	0.144584093388123	0.16663	T	0.779322	0.41328	T	0.16605155	0.36916	0.14269619	0.33939	0.16605155	0.36915	0.14269619	0.33938	-6.341	0.49047	T	.	.	0.193	0.41310	B	.	.	1.358724	0.17673	13.30	0.51605724612386916	0.04593	0.00131	0.00809	N	AEI	0.031641	0.03423	N	-0.766572269902481	0.14187	0.7047054	-0.966634048326421	0.10540	0.531471	9.4109173768131E-6	0.01202	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.564101	0.26826	0	.	.	.	.	.	0.423000	0.21032	-1.183000	0.06091	0.220000	0.18069	0.998000	0.41325	0.000000	0.08366	0.145000	0.20128	0.0:0.0:0.4925:0.5075	2.884	0.05307	934	0.15400	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1298.33	35	chr7	144184229	.	T	A	1298.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.25;DP=931;ExcessHet=0;FS=6.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=31.61;MQRankSum=-0.422;QD=4.42;ReadPosRankSum=1.69;SOR=0.525	GT:AD:DP:GQ:PL	0/1:212,82:294:99:1312,0,4660	18	0	1	0
chr7	150467101	150467101	C	G	exonic	GIMAP8	.	nonsynonymous SNV	GIMAP8:NM_175571:exon2:c.C403G:p.R135G	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.0132189459023	.	.	0.0011	0.0002	0.0003	0	0.0051	0.0013	0.0044	0.0005	0.0011643	180	154602	rs143212982	0.0014	0.0014	0.0015	0.0014	0.0016	0.0014	0.0014	0.0015	0.0015	0.0002	0.0004	3.826e-05	0	0.0041	0.0016	0.0016	0.0012	0.0003	0.0012	0.0012	0.0009	0.0015	0.0014	0.0010	0.0010	0.0011	0.0011	0.0004	0	0.0013	0	0	0.0044	0	0.0014	0	0.0006	0.013	0.53900	D	0.113	0.36901	T	0.954	0.54400	P	0.781	0.57337	P	0.259278	0.15347	N	0.525245	1	0.08975	N	1.72	0.44442	L	0.08	0.61559	T	-3.43	0.67359	D	0.202	0.22357	-0.8864	0.49240	T	0.181	0.52889	T	10	0.010969251	0.00242	T	0.013219	0.32452	T	0.126	0.34673	.	.	0.560872651919	0.55748	0.3957581991430946	0.39490	0.642053577171	0.57782	0.211359262466	0.00870	T	0.03757	0.24522	T	-0.454664	0.01060	T	-0.429861	0.29949	T	0.0728264867829109	0.09042	T	0.681032	0.28992	T	0.1331624	0.30981	0.14464329	0.34333	0.1331624	0.30981	0.14464329	0.34333	-7.255	0.55875	T	.	.	0.135	0.29255	B	.	.	0.259902	0.06385	2.850	0.97687211379868821	0.35352	0.02781	0.07488	N	AEFDBI	0.185510	0.31283	N	-0.719677085443754	0.15469	0.7798497	-0.993915176695477	0.09920	0.496481	0.99999402349655	0.74766	0.730579	0.87903	0	0.724815	0.89359	0	0.657636	0.52715	0	0.648885	0.59868	0	.	.	4.47	-4.43	0.03319	-2.945000	0.00746	-7.458000	0.01152	-0.171000	0.11205	0.000000	0.06391	0.000000	0.08366	0.145000	0.20128	0.3892:0.2714:0.0:0.3394	3.572	0.07473	946	0.12043	AIG1-type guanine nucleotide-binding (G) domain|AIG1-type guanine nucleotide-binding (G) domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3985.83	41	chr7	150467101	.	C	G	3985.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.24;DP=942;ExcessHet=0.119;FS=5.138;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.86;ReadPosRankSum=-1.283;SOR=0.734	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1809,0,1764	17	0	2	0
chr7	151024399	151024399	C	A	exonic	ATG9B	.	nonsynonymous SNV	ATG9B:NM_001317056:exon1:c.G25T:p.G9W	.	422	1094	6	0	0	6	0.00273473	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	.	0.00159744	0.0026	0	0.0017	0	0	0.0021	0	0.0217	0.0006274	97	154602	rs545139907	0.0005	0.0006	0.0004	0.0006	0.0064	0.0005	0.0005	0.0058	0.0055	7.618e-05	0.0007	0.0039	0.0004	2.417e-05	0.0058	0.0002	0.0009	0.0064	0.0007	0.0007	0.0005	0.0009	0.0081	0.0006	0.0005	0.0061	0.0054	0.0002	0	0.0017	0.0026	0	0	0.0171	0.0002	0.0014	0.0081	.	.	.	0.024	0.56640	D	0.881	0.48446	P	0.275	0.40079	B	0.110496	0.19440	N	0.434947	.	.	.	.	.	.	.	.	.	.	.	.	0.404	0.44474	-0.9532	0.40416	T	0.074	0.29897	T	7	0.0054236054	0.00119	T	.	.	.	.	.	.	.	0.441324992753	0.43756	0.16623656053761898	0.16543	.	.	0.422532200813	0.28186	T	0.032365	0.22453	T	-0.337211	0.05584	T	-0.252731	0.49547	T	0.107801700220323	0.13194	T	0.49655	0.15423	T	0.044533964	0.07136	0.066472635	0.13623	0.044533964	0.07136	0.066472635	0.13623	-4.823	0.34858	T	.	.	0.174	0.38172	B	.;.	.;.	2.273833	0.29066	18.00	0.6570393647721422	0.07848	0.67269	0.33372	D	AEFDBCI	0.371147	0.45727	N	-0.327890253594571	0.28092	1.54667	-0.391151531960423	0.25259	1.388052	0.999997272871623	0.74766	0.07523	0.01759	0	0.109994	0.03358	0	0.056003	0.00319	0	0.079188	0.02158	0	.	.	4.36	1.52	0.22158	0.312000	0.19147	1.317000	0.25577	-0.972000	0.01937	0.988000	0.36536	1.000000	0.68203	0.002000	0.04165	0.0:0.6834:0.0:0.3166	6.588	0.21827	940	0.13648	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.009189	0.000000	0.009642	0.013158	0.000000	0.008772	0.013514	0.004000	0.05263	2756.83	37	chr7	151024399	.	C	A	2756.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.776;DP=1061;ExcessHet=0.119;FS=2.313;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=0.4;SOR=0.712	GT:AD:DP:GQ:PL	0/1:54,49:103:99:1085,0,1364	17	0	2	0
chr7	152229940	152229940	A	G	exonic	KMT2C	.	nonsynonymous SNV	KMT2C:NM_170606:exon18:c.T2959C:p.Y987H	.	526	320	669	7	0	683	0.516251	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.454123	0.322785	0.464481	0.464912	0.428571	0.473214	0.474638	0.463115	0.4737	21366.3	445	chr7	152229940	.	A	G	21366.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.758;DP=6155;ExcessHet=38.2876;FS=0;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=44.67;MQRankSum=0.851;QD=3.8;ReadPosRankSum=0.116;SOR=0.691	GT:AD:DP:GQ:PL	0/1:167,56:223:99:832,0,5598	1	0	18	0
chr8	1548827	1548827	C	G	exonic	DLGAP2	.	nonsynonymous SNV	DLGAP2:NM_001346810:exon5:c.C374G:p.A125G	.	421	1098	3	0	0	3	0.00136426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	0.0094776966078	.	.	0.0001	0	0	0	0.0016	0.0001	0	0	5.17e-05	8	154602	rs753583566	3.642e-05	4.446e-05	3.749e-05	3.532e-05	0.0005	2.828e-05	2.561e-05	0.0001	7.888e-05	0	4.658e-05	0	0	0.0006	0.0005	1.91e-05	3.38e-05	0	6.572e-05	6.567e-05	6.424e-05	6.726e-05	1.47e-05	3.517e-05	2.616e-05	.	.	0	0	0	0	0	0.0008	0	1.47e-05	0	0	.	.	.	0.317	0.19304	T	0.611	0.39680	P	0.07	0.27859	B	0.024236	0.26299	N	0.465951	1	0.08975	N	0.675	0.16386	N	.	.	.	.	.	.	0.314	0.35408	-1.0329	0.19522	T	0.079	0.31496	T	10	0.027062178	0.00859	T	0.009478	0.24832	T	0.077	0.22490	0.112	0.02175	0.165150595986	0.16160	0.1725875137534764	0.17178	0.117517440466	0.13235	0.514366865158	0.40834	T	0.009727	0.23699	T	-0.445118	0.01206	T	-0.696246	0.06033	T	0.0678141469227483	0.08341	T	0.787921	0.44184	T	0.036723398	0.04572	0.09386044	0.22191	0.036723398	0.04572	0.09386044	0.22191	-5.042	0.37293	T	.	.	0.083	0.10304	B	.;.;.	.;.;.	2.735396	0.35818	20.0	0.98343006976186587	0.40457	0.63168	0.32005	D	AEFDBHCI	0.326763	0.42793	N	-0.188486733411212	0.33612	1.908963	-0.178920615688711	0.32313	1.837128	0.999996279085486	0.74766	0.554377	0.28877	0	0.588066	0.40923	0	0.505578	0.09266	0	0.613276	0.41899	0	.	.	4.89	4.01	0.45821	3.792000	0.55181	1.054000	0.23662	0.597000	0.34315	0.772000	0.29380	0.000000	0.08366	0.132000	0.19645	0.0:0.9215:0.0:0.0785	13.054	0.58379	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	714.33	37	chr8	1548827	.	C	G	714.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.262;DP=789;ExcessHet=0;FS=6.365;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=-0.792;SOR=1.08	GT:AD:DP:GQ:PL	0/1:42,28:70:99:728,0,1142	18	0	1	0
chr8	2001252	2001252	-	GAGAGC	exonic	KBTBD11	.	nonframeshift insertion	KBTBD11:NM_014867:exon2:c.60_61insGAGAGC:p.E25_G26insSE	.	254	1263	5	0	0	5	0.0019755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000998403	0.0049	0	0	0	0	0	0	0.0078	0.0002305	6	26028	rs560567428	0.0004	0.0004	0.0003	0.0005	0.0048	0.0004	0.0003	0.0044	0.0042	7.073e-05	0.0003	0	0.0002	0	0.0011	0.0001	0.0005	0.0048	0.0002	0.0003	0.0002	0.0003	0.0039	0.0002	0.0002	0.0026	0.0021	0	0	0.0001	0	0.0002	0	0.0034	0.0002	0	0.0039	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	899.29	33	chr8	2001252	.	G	GGAGAGC	899.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.475;DP=674;ExcessHet=0;FS=1.051;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.99;ReadPosRankSum=0.612;SOR=0.859	GT:AD:DP:GQ:PL	0/1:26,24:50:99:913,0,999	18	0	1	0
chr8	7976907	7976907	G	A	exonic	USP17L3	.	nonsynonymous SNV	USP17L3:NM_001256871:exon1:c.C1079T:p.T360I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs906769079	0.0004	0.0035	0.0003	0.0006	0.0018	0.0004	0.0003	0.0010	0.0008	4.814e-05	0	0	0.0018	0	0	0.0004	0.0008	0.0009	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.07	0.43721	T	.	.	.	.	.	.	.	.	.	.	.	.	.	2.255	0.64187	M	.	.	.	.	.	.	0.087	0.06454	.	.	.	.	.	.	.	0.014506668	0.00305	T	.	.	.	.	.	.	.	0.0762999501168	0.06990	0.011766013158553934	0.01136	.	.	0.512685418129	0.40597	T	0.021512	0.16737	T	-0.0518595	0.44165	T	-0.312269	0.43416	T	.	.	.	0.150185	0.01264	T	0.106639884	0.25216	0.22582935	0.47541	0.106639884	0.25216	0.22582935	0.47540	-8.992	0.67646	D	.	.	0.147	0.32420	B	.	.	1.730117	0.22019	15.45	0.66203521282350297	0.07990	0.06499	0.12509	N	AEFI	.	.	.	.	.	.	.	.	.	1.11964626091324E-6	0.01202	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0823262	0.18828	0.432	0.432	0.15742	-0.381000	0.07475	0.678000	0.20656	-0.330000	0.05784	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	.	.	.	988	0.01987	Peptidase C19, ubiquitin carboxyl-terminal hydrolase|Ubiquitin specific protease domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	40.9	.	chr8	7976907	.	G	A	40.9	.	AC=2;AF=0.167;AN=12;DP=176;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.25;MQ=45;QD=20.45;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	5	1	0	13
chr8	10609944	10609944	A	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.T4154C:p.L1385P	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00154599027019	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.957e-07	6.841e-06	1.384e-06	0	9.147e-07	0	0	.	.	0	0	0	0	0	0	9.147e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.352	0.17372	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.31	0.06291	T	-0.84	0.22944	N	0.246	0.27792	-0.9521	0.40608	T	0.010	0.03627	T	9	0.09340763	0.16528	T	0.001546	0.02420	T	0.019	0.03383	0.19	0.10039	0.252681307341	0.24864	0.04820050725330025	0.04763	.	.	0.277951002121	0.07208	T	.	.	.	-0.338111	0.05520	T	-0.723449	0.04631	T	0.104427913888091	0.12837	T	0.312769	0.06128	T	0.18423171	0.39729	0.18186693	0.41077	0.18423171	0.39728	0.18186693	0.41076	-5.006	0.36905	T	.	.	0.116	0.23500	B	.	.	1.339715	0.17462	13.18	0.83328979539444226	0.14666	0.00623	0.02749	N	AEFDBI	0.039816	0.05836	N	-1.21499860110366	0.04781	0.2165456	-1.31279977474022	0.04264	0.2007433	1.76998291139271E-4	0.05786	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	1.72	-1.96	0.07113	-0.566000	0.06013	-0.531000	0.08635	0.410000	0.20643	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.4099:0.1824:0.4077:0.0	4.524	0.11378	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2857	10774.2	70	chr8	10609944	.	A	G	10774.2	.	AC=8;AF=0.286;AN=28;BaseQRankSum=-5.582;DP=4163;ExcessHet=4.0268;FS=203.216;InbreedingCoeff=-0.3818;MLEAC=10;MLEAF=0.357;MQ=60;MQRankSum=0;QD=5.3;ReadPosRankSum=1.08;SOR=12.856	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,95:281:99:0|1:10609943_C_T:2189,0,6390:10609943	6	0	8	5
chr8	10609948	10609948	C	G	exonic	RP1L1	.	nonsynonymous SNV	RP1L1:NM_178857:exon4:c.G4150C:p.G1384R	Occult macular dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3188301	Retinal_dystrophy	Human_Phenotype_Ontology:HP:0000556,Human_Phenotype_Ontology:HP:0007736,Human_Phenotype_Ontology:HP:0007910,Human_Phenotype_Ontology:HP:0007974,Human_Phenotype_Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.045	0.00162238193855	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.94e-06	1.642e-05	1.095e-05	6.912e-06	0.0003	4.99e-06	3.84e-06	0.0002	0.0002	0	0	0	0.0003	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.376	0.11334	T	0.121	0.35840	T	.	.	.	.	.	.	.	.	.	.	0.999997	0.08975	N	.	.	.	3.32	0.06214	T	-0.05	0.07736	N	0.117	0.10626	-0.9469	0.41498	T	0.014	0.05465	T	9	0.10402462	0.19156	T	0.001622	0.02625	T	0.045	0.12272	0.278	0.23164	0.316788114976	0.31282	0.06568765536653219	0.06507	.	.	0.222160607576	0.01438	T	.	.	.	-0.397244	0.02413	T	-0.80839	0.01701	T	0.0790720420029634	0.09867	T	0.534647	0.17878	T	0.060357437	0.12375	0.07936777	0.17862	0.060357437	0.12375	0.07936777	0.17861	-6.055	0.46737	T	.	.	0.147	0.32517	B	.	.	0.672697	0.10411	7.134	0.053606148112299815	0.00010	0.02277	0.06569	N	AEFDBI	0.028927	0.02637	N	-0.705380915931966	0.15869	0.8036573	-0.931140720808663	0.11361	0.5783139	0.0012533547619343	0.08381	0.580535	0.33130	0	0.573888	0.26702	0	0.578056	0.29568	0	0.604944	0.38103	0	.	.	0.493	0.493	0.16087	-0.335000	0.07917	0.238000	0.16272	0.452000	0.21348	0.000000	0.06391	0.002000	0.18203	0.010000	0.09038	0.0:1.0:0.0:0.0	6.300	0.20313	794	0.45591	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3125	19088.4	307	chr8	10609948	.	C	G	19088.4	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.359;DP=4756;ExcessHet=20.8569;FS=294.975;InbreedingCoeff=-0.7674;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=4.95;ReadPosRankSum=2.02;SOR=14.328	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:186,95:281:99:0|1:10609943_C_T:2189,0,6399:10609943	6	0	10	3
chr8	11761832	11761832	G	T	exonic	C8orf49	.	nonsynonymous SNV	C8orf49:NM_001031839:exon1:c.G419T:p.C140F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.000794454176548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1111	82.19	.	chr8	11761832	.	G	T	82.19	.	AC=2;AF=0.111;AN=18;DP=15;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.167;MQ=60;QD=27.8;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:11761825_C_T:91,6,0:11761825	8	1	0	10
chr8	13021792	13021792	-	G	exonic	TRMT9B	.	frameshift insertion	TRMT9B:NM_001099677:exon2:c.736dupG:p.A246Gfs*2,TRMT9B:NM_020844:exon5:c.1114dupG:p.A372Gfs*2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1411.29	99	chr8	13021792	.	T	TG	1411.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.53;DP=2004;ExcessHet=0;FS=2.374;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.57;ReadPosRankSum=-1.038;SOR=0.963	GT:AD:DP:GQ:PL	0/1:74,48:122:99:1425,0,2390	18	0	1	0
chr8	19313807	19313807	A	-	exonic	SH2D4A	.	frameshift deletion	SH2D4A:NM_001174160:exon1:c.30delA:p.A12Rfs*24	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00119808	.	.	.	.	.	.	.	.	0.0002305	6	26028	rs565027575	3.615e-05	3.489e-05	2.912e-05	4.337e-05	0.0013	2.767e-05	2.493e-05	0.0006	0.0004	0	6.031e-05	0	0	3.013e-05	0.0013	3.472e-05	3.526e-05	0	5.912e-05	5.907e-05	5.143e-05	6.716e-05	0.0001	3.077e-05	2.21e-05	2.848e-05	1.859e-05	0	0	0.0001	0	0	0	0.0068	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001259	0.006757	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	744.29	39	chr8	19313806	.	CA	C	744.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.818;DP=735;ExcessHet=0;FS=1.023;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=0.194;SOR=0.812	GT:AD:DP:GQ:PL	0/1:33,24:57:99:758,0,1303	18	0	1	0
chr8	21999193	21999193	G	A	exonic	XPO7	.	nonsynonymous SNV	XPO7:NM_001362802:exon22:c.G2465A:p.S822N,XPO7:NM_001100161:exon23:c.G2558A:p.S853N,XPO7:NM_015024:exon23:c.G2531A:p.S844N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366	0.0193655611723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.105e-06	4.104e-06	5.445e-06	2.751e-06	2.987e-05	1.48e-06	9.7e-07	3.85e-06	1.44e-06	2.987e-05	0	0	0	0	0	1.799e-06	1.656e-05	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06	0.37326	T	0.321	0.43913	T	0.116	0.54515	B	0.091	0.54472	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.385	0.34509	L	0.89	0.45636	T	-2.12	0.48184	N	0.758	0.75834	-0.9049	0.47458	T	0.195	0.54855	T	10	0.4181844	0.56684	T	0.019366	0.41714	T	0.366	0.68582	.	.	0.0675242888579	0.06100	0.7189786172465736	0.71840	0.898319418033	0.70545	0.868975818157	0.92421	D	0.08064	0.36411	T	-0.0883235	0.38354	T	-0.364647	0.37514	T	0.769714117050171	0.44422	D	0.918008	0.86020	D	0.27744275	0.50802	0.33122456	0.58984	0.27744275	0.50802	0.33122456	0.58983	-6.378	0.49338	T	.	.	0.474	0.65452	A	.;.;.	.;.;.	4.647295	0.74039	26.1	0.99733174582213135	0.82904	0.99450	0.96181	D	AEFDGBI	0.927666	0.91069	D	0.477599380253253	0.65783	4.866274	0.606459199714847	0.75407	6.305225	0.999999999999623	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.83	5.83	0.93059	10.003000	0.99689	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.782	0.96418	690	0.58899	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4381.81	33	chr8	21999193	.	G	A	4381.81	.	AC=2;AF=0.053;AN=38;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.08;SOR=0.707	GT:AD:DP:GQ:PL	1/1:0,141:141:99:4409,423,0	18	1	0	0
chr8	23316985	23316985	C	T	exonic	LOXL2	.	nonsynonymous SNV	LOXL2:NM_002318:exon9:c.G1600A:p.G534R	.	211	1309	2	0	0	2	0.000763359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	.	0.0012	0.014377	0.0134	0.0021	0.0942	0.0142	0.0353	0.0020	0.0170	0.0006	0.0120309	1860	154602	rs149587418	0.0046	0.0046	0.0050	0.0041	0.0795	0.0045	0.0045	0.0773	0.0764	0.0011	0.0795	0	0.0160	0.0333	0.0002	0.0003	0.0048	0.0011	0.0092	0.0092	0.0071	0.0114	0.0465	0.0088	0.0086	0.0436	0.0425	0.0024	0	0.0465	0	0.0164	0.0380	0	0.0011	0.0061	0.0017	0.003	0.68238	D	0.11	0.37310	T	0.939	0.52645	P	0.889	0.63100	P	0.000001	0.84330	D	0.093979	1	0.81001	D	0.88	0.21560	L	1.54	0.30133	T	-5.72	0.87531	D	0.245	0.27673	-1.0364	0.18419	T	0.038	0.16333	T	10	0.0035539567	0.00064	T	.	.	.	0.238	0.54217	0.451	0.51285	.	.	0.7230398605622168	0.72247	0.653833512896	0.58498	0.488958775997	0.37293	T	0.148974	0.48777	T	-0.341065	0.05315	T	-0.196748	0.54955	T	0.0431123634363572	0.04258	T	0.846915	0.52723	T	0.7075414	0.78472	0.6326163	0.78563	0.7075414	0.78473	0.6326163	0.78564	-10.181	0.74988	D	.	.	0.139	0.30450	B	.	.	4.254742	0.64612	24.7	0.99913626150655943	0.98238	0.95563	0.65220	D	AEFDBCI	0.773006	0.70715	D	0.508428002978768	0.67586	5.101513	0.434498221282481	0.63726	4.612409	0.999999999999999	0.74766	0.706298	0.61202	0	0.610034	0.51514	0	0.709663	0.75317	0	0.591603	0.36755	0	.	.	5.39	5.39	0.77615	5.038000	0.63972	0.408000	0.18078	0.587000	0.30956	0.983000	0.35670	0.000000	0.08366	0.734000	0.35233	0.0:1.0:0.0:0.0	18.097	0.89422	713	0.56348	SRCR domain|SRCR domain|SRCR-like domain	.	.	.	.	rs149587418	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1349.33	63	chr8	23316985	.	C	T	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=904;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=-1.501;SOR=0.591	GT:AD:DP:GQ:PL	0/1:53,49:102:99:1363,0,1411	18	0	1	0
chr8	26508737	26508737	C	G	exonic	PNMA2	.	nonsynonymous SNV	PNMA2:NM_007257:exon3:c.G19C:p.E7Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00351916886985	.	.	8.474e-06	0	0	0	0	1.518e-05	0	0	6.5e-06	1	154602	rs764346444	1.37e-06	1.368e-06	1.363e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297	0.14645	T	0.149	0.32568	T	0.536	0.37827	P	0.198	0.36766	B	.	.	.	.	0.950579	0.26500	N	0	0.06538	N	2.84	0.10674	T	-0.1	0.08495	N	0.305	0.34444	-1.0124	0.26165	T	0.018	0.07565	T	9	0.1505807	0.28478	T	0.003519	0.08000	T	0.025	0.05312	0.358	0.36060	0.549036597592	0.54559	0.4686592876139212	0.46784	0.325923819181	0.34745	0.524691104889	0.42287	T	0.008096	0.07453	T	-0.244618	0.14766	T	-0.589153	0.13739	T	0.0905008172038572	0.11278	T	0.278972	0.04839	T	0.05264644	0.09850	0.038133074	0.03616	0.05264644	0.09850	0.038133074	0.03616	-4.683	0.33197	T	.	.	0.109	0.20780	B	.	.	2.427229	0.31222	18.68	0.95606595640851399	0.27352	0.62390	0.31767	D	AEFBI	0.100506	0.20207	N	-0.499180050629534	0.22106	1.178147	-0.466905009514624	0.23072	1.256309	6.31246737125765E-4	0.07505	0.638212	0.43195	0	0.59043	0.45803	0	0.687403	0.62504	0	0.668105	0.65232	0	.	.	3.84	2.97	0.33479	1.579000	0.36145	2.586000	0.33442	-0.176000	0.10722	0.897000	0.31356	0.991000	0.31484	0.052000	0.15357	0.0:0.8823:0.0:0.1177	7.431	0.26298	717	0.55835	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1838.33	40	chr8	26508737	.	C	G	1838.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.419;DP=872;ExcessHet=0;FS=2.455;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.06;ReadPosRankSum=1.23;SOR=0.517	GT:AD:DP:GQ:PL	0/1:116,87:203:99:1852,0,2912	18	0	1	0
chr8	28527857	28527857	A	C	exonic	FZD3	.	nonsynonymous SNV	FZD3:NM_145866:exon4:c.A1097C:p.Y366S,FZD3:NM_017412:exon5:c.A1097C:p.Y366S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.733	0.112536711528	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.164	0.23360	T	0.229	0.25210	T	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.22	0.30592	L	-1.48	0.81150	T	-3.36	0.66549	D	0.892	0.89131	-0.0033	0.82188	T	0.531	0.82597	D	10	0.86584103	0.85828	D	0.112537	0.79072	D	0.733	0.90677	0.506	0.60078	0.910978530935	0.91008	0.82420749831174	0.82378	1.94513251559	0.93320	0.79725664854	0.81546	T	0.709163	0.91690	D	0.387863	0.89198	D	0.319362	0.89062	D	0.984737694263458	0.75947	D	0.861414	0.55526	D	0.50037515	0.67117	0.37308556	0.62503	0.50037515	0.67118	0.37308556	0.62503	-7.107	0.54811	T	.	.	0.467	0.63338	A	.;.	.;.	4.849540	0.79257	27.1	0.98881879482698976	0.47841	0.98876	0.88035	D	AEFGBI	0.912067	0.87221	D	0.628358452111575	0.74975	6.224987	0.647031843081357	0.78390	6.86662	0.999999906386	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.620846	0.47308	0	.	.	5.11	5.11	0.69188	9.325000	0.96006	11.284000	0.91844	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	13.703	0.62101	835	0.38313	Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain;Frizzled/Smoothened, transmembrane domain|GPCR, family 2-like|Frizzled/Smoothened, transmembrane domain	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1667	972.6	108	chr8	28527857	.	A	C	972.6	.	AC=5;AF=0.167;AN=30;BaseQRankSum=-4.292;DP=1867;ExcessHet=1.3;FS=283.872;InbreedingCoeff=-0.2258;MLEAC=6;MLEAF=0.2;MQ=60;MQRankSum=0;QD=1;ReadPosRankSum=2.46;SOR=11.075	GT:AD:DP:GQ:PL	0/1:139,48:187:99:149,0,2934	10	0	5	4
chr8	28780872	28780872	G	C	exonic	INTS9	.	nonsynonymous SNV	INTS9:NM_001145159:exon11:c.C1158G:p.H386Q,INTS9:NM_001172562:exon12:c.C1149G:p.H383Q,INTS9:NM_001363038:exon12:c.C1221G:p.H407Q,INTS9:NM_018250:exon12:c.C1221G:p.H407Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284	0.016436562205	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.053e-06	2.942e-05	2.723e-06	1.375e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.007	0.69154	D	0.943	0.53072	P	0.823	0.59197	P	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	1.935	0.51832	L	0.9	0.46412	T	-6.4	0.91184	D	0.958	0.97317	-0.8865	0.49231	T	0.159	0.49296	T	10	0.78347826	0.78049	D	0.016437	0.37697	T	0.284	0.60219	0.331	0.31681	0.611786747218	0.60866	0.7458400941079445	0.74530	1.09661947037	0.77599	0.802756369114	0.82384	T	0.389927	0.75023	T	0.189418	0.72910	D	0.0343095	0.72559	D	0.994060456752777	0.85148	D	0.789321	0.45144	T	0.9127507	0.92552	0.8257955	0.89911	0.9127507	0.92554	0.8257955	0.89912	-11.639	0.83227	D	.	.	0.945	0.89314	P	.;.;.	.;.;.	3.184076	0.43231	21.7	0.99337460911012421	0.60051	0.90823	0.52327	D	AEFBI	0.386581	0.46689	N	0.15838004896007	0.49210	3.123909	0.105560327046998	0.44831	2.757433	0.984078514391494	0.30659	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.97	0.193	0.14419	0.609000	0.23935	1.081000	0.23892	0.676000	0.76740	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.5112:0.0:0.4888:0.0	10.624	0.44686	533	0.73433	Beta-Casp domain|Beta-Casp domain;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.3056	808.56	107	chr8	28780872	.	G	C	808.56	.	AC=11;AF=0.306;AN=36;BaseQRankSum=-3.658;DP=1552;ExcessHet=8.9063;FS=232.795;InbreedingCoeff=-0.3979;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=0.81;ReadPosRankSum=-0.439;SOR=11.492	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:74,23:97:52:.:.:52,0,1564:.	7	0	11	1
chr8	37934471	37934471	T	-	exonic	GOT1L1	.	frameshift deletion	GOT1L1:NM_152413:exon9:c.1088delA:p.Y363Sfs*26	.	434	1084	0	2	2	6	0.00184162	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.00678914	0.0021	0.0002	8.639e-05	0.0268	0.0003	0.0001	0.0022	0.0007	0.0019534	302	154602	rs201462725	0.0009	0.0009	0.0009	0.0009	0.0284	0.0009	0.0008	0.0270	0.0264	8.969e-05	8.952e-05	0	0.0284	5.618e-05	0.0002	3.78e-05	0.0014	0.0007	0.0012	0.0012	0.0011	0.0014	0.0298	0.0011	0.0010	0.0260	0.0245	0.0002	0	0.0005	0	0.0298	0.0005	0	2.94e-05	0.0019	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1338.29	33	chr8	37934470	.	GT	G	1338.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.654;DP=722;ExcessHet=0;FS=1.744;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-0.104;SOR=0.929	GT:AD:DP:GQ:PL	0/1:50,41:91:99:1352,0,1740	18	0	1	0
chr8	39918109	39918109	C	A	exonic	IDO1	.	nonsynonymous SNV	IDO1:NM_002164:exon3:c.C205A:p.H69N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.0116057051404	.	.	8.281e-06	0	0	0	0	0	0	6.056e-05	6.5e-06	1	154602	rs763006663	4.789e-06	4.788e-06	1.361e-06	8.252e-06	6.957e-05	1.99e-06	1.28e-06	2.995e-05	2.038e-05	0	0	0	0	0	0	8.994e-07	0	6.957e-05	6.572e-06	6.567e-06	0	1.345e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.452	0.13131	T	0.614	0.19073	T	0.025	0.19245	B	0.033	0.22329	B	0.920817	0.08488	N	0.958528	1	0.08975	N	0.69	0.16971	N	1.04	0.40218	T	-1.47	0.47008	N	0.272	0.30800	-1.0091	0.27198	T	0.076	0.30460	T	9	0.13601133	0.25879	T	0.011606	0.29407	T	0.020	0.03691	0.448	0.50793	0.173771789658	0.16945	0.09552612691611206	0.09484	0.0482480031121	0.05275	0.27166184783	0.06359	T	0.022814	0.51171	T	-0.489342	0.00655	T	-0.738028	0.03975	T	0.0340651068316614	0.02648	T	0.555844	0.19458	T	0.26873446	0.49945	0.08870297	0.20700	0.26873446	0.49945	0.08870297	0.20699	-3.106	0.11365	T	.	.	0.065	0.03231	B	.;.;.;.	.;.;.;.	1.395071	0.18080	13.54	0.76137086444215341	0.11347	0.08456	0.14383	N	AEFDHCI	0.112841	0.22288	N	-0.963261578018857	0.09397	0.4445764	-0.936354518599568	0.11240	0.5714483	0.00790191170281683	0.11569	0.634777	0.41761	0	0.573888	0.26702	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	5.65	2.82	0.32061	0.268000	0.18336	2.105000	0.30626	-0.368000	0.05462	0.000000	0.06391	0.017000	0.20586	0.338000	0.25386	0.0975:0.4341:0.4684:0.0	7.491	0.26629	914	0.21048	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1558.33	41	chr8	39918109	.	C	A	1558.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.225;DP=785;ExcessHet=0;FS=0.709;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.79;ReadPosRankSum=0.772;SOR=0.842	GT:AD:DP:GQ:PL	0/1:52,61:113:99:1572,0,1432	18	0	1	0
chr8	60856055	60856055	G	A	exonic	CHD7	.	nonsynonymous SNV	CHD7:NM_017780:exon33:c.G7017A:p.M2339I	CHARGE syndrome, Autosomal dominant;Hypogonadotropic hypogonadism 5 with or without anosmia	0	1521	1	0	0	1	0.000328623	.	.	.	834970	Inborn_genetic_diseases|CHARGE_syndrome|Hypogonadotropic_hypogonadism_5_with_or_without_anosmia|not_provided	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008965,MedGen:C0265354,OMIM:214800,Orphanet:138|MONDO:MONDO:0012880,MedGen:C3552553,OMIM:612370,Orphanet:478|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.333	0.0747461457691	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1247369056	5.482e-06	6.156e-06	5.452e-06	5.512e-06	0.0002	2.36e-06	1.7e-06	1.94e-06	1.28e-06	0	0	0	0	0	0.0002	5.401e-06	0	1.168e-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	0.116	0.28395	T	0.418	0.14200	T	0.0	0.02946	B	0.0	0.01387	B	0.000178	0.48594	D	0.213026	0.997374	0.81001	D	-0.345	0.03330	N	-1.35	0.80035	T	-0.29	0.11728	N	0.657	0.66700	-0.6243	0.63810	T	0.319	0.68848	T	10	0.3399675	0.51073	T	0.074746	0.72116	D	0.333	0.65522	0.313	0.28774	0.62133168466	0.61826	0.11405143200442942	0.11333	0.174460457525	0.19643	0.511897265911	0.40488	T	0.070734	0.34033	T	-0.0420936	0.45639	T	-0.298241	0.44910	T	0.358110315614382	0.27335	T	0.833317	0.50212	T	0.095855005	0.22568	0.15444237	0.36247	0.095855005	0.22568	0.15444237	0.36246	-4.133	0.25775	T	0.060559434636289176	0.01671	0.304	0.53269	B	.	.	3.648711	0.51769	23.1	0.98171556834533114	0.38865	0.94866	0.62602	D	AEFDBI	0.491743	0.52867	N	-0.123947280951334	0.36352	2.100037	0.12146221785838	0.45648	2.824304	0.99992873925507	0.46280	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.84	5.84	0.93373	4.053000	0.57139	11.866000	0.98448	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	20.139	0.98055	810	0.42761	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2028.33	34	chr8	60856055	.	G	A	2028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.726;DP=792;ExcessHet=0;FS=0.553;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.27;ReadPosRankSum=1.33;SOR=0.746	GT:AD:DP:GQ:PL	0/1:97,83:180:99:2042,0,2647	18	0	1	0
chr8	64615784	64615784	T	C	exonic	CYP7B1	.	nonsynonymous SNV	CYP7B1:NM_001324112:exon3:c.A757G:p.K253E,CYP7B1:NM_004820:exon3:c.A757G:p.K253E	Bile acid synthesis defect, congenital, 3, Autosomal recessive;Spastic paraplegia 5A, autosomal recessive, Autosomal recessive	1	1519	2	0	0	2	0.000657895	.	.	.	899943	Spastic_paraplegia|not_provided|Hereditary_spastic_paraplegia_5A|Inborn_genetic_diseases	Human_Phenotype_Ontology:HP:0001258,Human_Phenotype_Ontology:HP:0007062,Human_Phenotype_Ontology:HP:0007124,Human_Phenotype_Ontology:HP:0007216,MedGen:C0037772|MedGen:C3661900|MONDO:MONDO:0010047,MedGen:C1849115,OMIM:270800,Orphanet:100986|MeSH:D030342,MedGen:C0950123	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.149	0.0476759423704	.	.	6.593e-05	0	0	0	0	0.0001	0	0	5.82e-05	9	154602	rs200328073	8.211e-05	8.209e-05	8.033e-05	8.39e-05	5.041e-05	7.003e-05	6.554e-05	1.663e-05	1.425e-05	0	0	0.0030	5.041e-05	0	0	2.429e-05	0.0002	0	9.199e-05	9.193e-05	5.139e-05	0.0001	2.94e-05	5.528e-05	4.365e-05	4.88e-06	1.83e-06	0	0	0	0.0035	0	0	0	2.94e-05	0	0	0.239	0.17761	T	0.901	0.03039	T	0.0	0.02946	B	0.009	0.14300	B	0.819901	0.09186	N	0.934500	1	0.08975	N	0.515	0.13537	N	-1.91	0.84701	D	-0.55	0.16799	N	0.161	0.16864	-0.8128	0.54380	T	0.386	0.74157	T	10	0.017489403	0.00374	T	0.047676	0.63029	D	0.149	0.39377	0.463	0.53242	0.831939011567	0.83034	0.4893566704260673	0.48855	0.109330788207	0.12331	0.279992610216	0.07491	T	0.15344	0.49429	T	-0.244017	0.14841	T	-0.419162	0.31172	T	0.0415310950387887	0.03969	T	0.244976	0.03588	T	0.083230615	0.19210	0.08240401	0.18804	0.083230615	0.19209	0.08240401	0.18803	-4.79	0.34475	T	0.3121808715376566	0.41009	0.127	0.27131	B	.	.	1.756880	0.22349	15.58	0.85361785411301894	0.15845	0.50206	0.28609	D	AEFI	0.166334	0.29291	N	-0.744160474871161	0.14792	0.739904	-0.675094733141806	0.17585	0.9356728	1.62836631306364E-4	0.05721	0.554377	0.28877	0	0.588066	0.40923	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	2.1	0.26226	1.681000	0.37234	2.224000	0.31475	0.665000	0.62972	0.817000	0.29947	0.994000	0.32194	0.642000	0.32476	0.0:0.0706:0.2909:0.6385	9.297	0.36983	770	0.49152	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	7877.33	37	chr8	64615784	.	T	C	7877.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.432;DP=1326;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=-1.08;SOR=0.679	GT:AD:DP:GQ:PL	0/1:314,324:638:99:7891,0,7744	18	0	1	0
chr8	66493691	66493691	G	C	exonic	VXN	.	nonsynonymous SNV	VXN:NM_152765:exon1:c.G43C:p.V15L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.00547327237093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.979e-06	0.0002	9.631e-06	8.323e-06	1.164e-05	5.01e-06	3.86e-06	5.37e-06	3.92e-06	0	0	0	0	0	0	1e-05	1.668e-05	1.164e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.116	0.92824	T	0.996	0.90584	D	0.99	0.82059	D	0.000007	0.62929	D	0.000000	0.99932	0.46670	D	.	.	.	.	.	.	-2.35	0.57762	N	0.725	0.82964	-0.6318	0.63494	T	0.303	0.67409	T	9	0.5419149	0.63768	D	0.005473	0.14075	T	0.219	0.51417	0.234	0.16305	0.658285377725	0.65543	0.48710170484580395	0.48630	1.31309391701	0.83265	.	.	.	0.114249	0.49642	T	0.245393	0.78169	D	0.114713	0.77885	D	0.835849516035111	0.48992	D	0.837516	0.52137	T	0.58112	0.71669	0.61174595	0.77411	0.58112	0.71670	0.61174595	0.77412	-3.202	0.12505	T	.	.	0.979	0.91928	P	.;.;.;.	.;.;.;.	4.230900	0.64072	24.7	0.99840759444709359	0.92143	0.98639	0.85009	D	AEFGBHI	0.812472	0.73519	D	0.712960435504671	0.80482	7.303924	0.757067553857114	0.86685	8.968818	0.999999999869192	0.74766	0.487112	0.14033	0	0.563428	0.19063	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	5.98	5.98	0.97147	6.429000	0.73312	11.673000	0.94126	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.639	0.91344	632	0.64850	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	544.08	93	chr8	66493691	.	G	C	544.08	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-2.074;DP=1191;ExcessHet=6.9875;FS=128.3;InbreedingCoeff=-0.3756;MLEAC=10;MLEAF=0.278;MQ=59.61;MQRankSum=-0.015;QD=0.89;ReadPosRankSum=1.58;SOR=10.814	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:51,17:68:13:.:.:13,0,865:.	8	0	10	1
chr8	67267197	67267197	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1706C:p.Y569S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.899	0.237962970762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.72	0.94773	H	-0.78	0.73631	T	-8.35	0.97055	D	0.942	0.94904	0.687	0.93008	D	0.706	0.89885	D	10	0.9347031	0.92803	D	0.237963	0.88567	D	0.899	0.97173	0.765	0.89293	0.928413877143	0.92768	0.9410339865550086	0.94084	2.66344963391	0.98472	0.923793792725	0.98598	D	0.579556	0.86210	D	0.426857	0.91374	D	0.375374	0.91268	D	0.999809205532074	0.99090	D	0.999009	0.99481	D	0.95048153	0.96314	0.9252946	0.96768	0.95048153	0.96314	0.9252946	0.96769	-14.428	0.94364	D	.	.	0.997	0.96728	P	.	.	4.199179	0.63353	24.6	0.9915802266271444	0.54015	0.99263	0.93634	D	AEFBIJ	0.859364	0.77703	D	0.987119455993339	0.95336	13.52262	0.906983321677204	0.95869	14.05404	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05556	237.59	77	chr8	67267197	.	T	G	237.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=-2.192;DP=1067;ExcessHet=0.119;FS=135.812;InbreedingCoeff=-0.0707;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=1.06;ReadPosRankSum=3.01;SOR=7.275	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:86,16:102:63:0|1:67267197_T_G:63,0,2939:67267197	16	0	2	1
chr8	67267206	67267206	T	G	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon12:c.A1697C:p.Y566S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.827	0.185111105236	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	3.615	0.93875	H	-0.14	0.65006	T	-8.21	0.96839	D	0.903	0.90363	0.359	0.88479	D	0.556	0.83808	D	10	0.9076985	0.90135	D	0.185111	0.85792	D	0.827	0.94503	0.744	0.87570	0.87037615458	0.86911	0.9092638382302259	0.90900	2.66344963391	0.98472	0.932812094688	0.99139	D	0.543141	0.84394	D	0.399337	0.89876	D	0.335844	0.89748	D	0.999809205532074	0.99090	D	0.994967	0.98297	D	0.9542225	0.96695	0.9234184	0.96638	0.9542225	0.96696	0.9234184	0.96638	-14.814	0.95401	D	.	.	0.994	0.95244	P	.	.	4.277610	0.65129	24.8	0.99153331616312945	0.53875	0.99263	0.93634	D	AEBI	0.859364	0.77703	D	0.963041333664288	0.94489	12.79763	0.891701606307143	0.95200	13.402	0.999999722328493	0.74766	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.64	5.64	0.86480	7.941000	0.87167	.	.	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.0:1.0	15.858	0.78774	515	0.74782	Guanine nucleotide exchange factor, N-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1667	665.25	64	chr8	67267206	.	T	G	665.25	.	AC=4;AF=0.167;AN=24;BaseQRankSum=-4.209;DP=1722;ExcessHet=0.7564;FS=168.069;InbreedingCoeff=-0.2463;MLEAC=5;MLEAF=0.208;MQ=60;MQRankSum=0;QD=1.36;ReadPosRankSum=1.52;SOR=9.994	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:72,26:98:99:0|1:67267197_T_G:294,0,1140:67267197	8	0	4	7
chr8	67288041	67288041	T	C	exonic	ARFGEF1	.	nonsynonymous SNV	ARFGEF1:NM_006421:exon7:c.A941G:p.Y314C	.	479	1038	3	2	0	7	0.00336054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	.	0.0007	0.0241613	0.0123	0.0007	0.0376	0.1120	0.0003	0.0003	0.0078	0.0031	0.0114035	1763	154602	rs76811394	0.0042	0.0043	0.0044	0.0040	0.1022	0.0041	0.0041	0.0996	0.0985	0.0005	0.0277	3.889e-05	0.1022	0.0011	0.0009	0.0002	0.0061	0.0032	0.0055	0.0056	0.0049	0.0063	0.1019	0.0052	0.0051	0.0947	0.0919	0.0010	0	0.0131	0	0.1019	0.0011	0	0.0004	0.0061	0.0052	0.178	0.22138	T	0.183	0.29153	T	0.0	0.02946	B	0.0	0.01387	B	0.246133	0.15607	N	0.639663	0.711467	0.33523	D	0.895	0.22405	L	2.13	0.19588	T	0.09	0.05917	N	0.105	0.08925	-1.0922	0.05175	T	0.002	0.00497	T	10	0.0021713376	0.00031	T	.	.	.	0.077	0.22490	.	.	.	.	0.1972633484220722	0.19643	0.445717174749	0.44459	0.608375430107	0.54086	T	0.094523	0.39434	T	-0.559103	0.00257	T	-0.489036	0.23493	T	0.00835954930862052	0.00101	T	0.737926	0.35508	T	0.06564336	0.14048	0.051582094	0.08329	0.06564336	0.14048	0.051582094	0.08328	-2.36	0.04894	T	.	.	0.058	0.00614	B	.	.	2.612709	0.33937	19.49	0.97194579099039913	0.32779	0.92158	0.55074	D	AEBI	0.431429	0.49372	N	-0.249985751337175	0.31103	1.740783	-0.0980935924300736	0.35470	2.052438	0.809555116605096	0.24331	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.39	4.2	0.48814	3.368000	0.52084	.	.	0.609000	0.47794	1.000000	0.71638	1.000000	0.68203	0.904000	0.43992	0.0:0.0707:0.0:0.9293	11.676	0.50692	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	0	0	0.002014	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1349.33	34	chr8	67288041	.	T	C	1349.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.23;DP=718;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.91;ReadPosRankSum=-0.689;SOR=0.704	GT:AD:DP:GQ:PL	0/1:44,53:97:99:1363,0,1038	18	0	1	0
chr8	76707587	76707587	C	A	exonic	ZFHX4	.	nonsynonymous SNV	ZFHX4:NM_024721:exon3:c.C2632A:p.Q878K	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.205	0.00998791565084	.	.	6.619e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs779768832	1.729e-05	1.915e-05	1.097e-05	2.372e-05	0.0003	1.187e-05	1.003e-05	0.0002	0.0002	0	0	0	0	0	0	0	0	0.0003	6.58e-06	6.568e-06	0	1.348e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.035	0.43708	D	0.082	0.41573	T	.	.	.	.	.	.	.	.	.	.	0.999669	0.81001	D	.	.	.	1.03	0.40469	T	-2.65	0.56787	D	0.881	0.87917	-0.8208	0.53883	T	0.214	0.57534	T	9	0.30438387	0.47963	T	0.009988	0.25990	T	0.205	0.49236	0.464	0.53404	0.239312915715	0.23560	0.4167347759079498	0.41589	0.241060446744	0.26636	0.723388135433	0.70540	T	.	.	.	-0.269678	0.11792	T	-0.327591	0.41736	T	0.262780559436322	0.23436	T	0.824917	0.49436	T	.	.	.	.	.	.	.	.	-3.947	0.23008	T	.	.	0.336	0.55624	B	.;.	.;.	4.212798	0.63657	24.6	0.96328059462937421	0.29440	0.99113	0.91417	D	AEFDBHI	0.939784	0.94084	D	0.703204229005219	0.79844	7.164039	0.716719877899332	0.83649	8.077277	0.999999999814978	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.527494	0.11647	0	0.620846	0.47308	0	.	.	5.18	5.18	0.71140	7.905000	0.86479	7.736000	0.67890	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	18.884	0.92339	832	0.38914	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	3235.83	34	chr8	76707587	.	C	A	3235.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.4;DP=763;ExcessHet=0.119;FS=6.129;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=19.15;ReadPosRankSum=0.749;SOR=0.372	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:45,37:82:99:0|1:76707586_T_A:1418,0,1771:76707586	17	0	2	0
chr8	90645732	90645732	-	GCTGCCGCCGCC	exonic	TMEM64	.	nonframeshift insertion	TMEM64:NM_001008495:exon1:c.173_174insGGCGGCGGCAGC:p.A61_S62insAAAA,TMEM64:NM_001146273:exon1:c.173_174insGGCGGCGGCAGC:p.A61_S62insAAAA	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1294690554	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.354e-05	1.319e-05	2.639e-05	0	6.713e-05	2.25e-06	8.4e-07	.	.	2.445e-05	0	6.713e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	452.25	6	chr8	90645732	.	T	TGCTGCCGCCGCC	452.25	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.921;DP=142;ExcessHet=0.1259;FS=0;InbreedingCoeff=-0.0811;MLEAC=2;MLEAF=0.056;MQ=60;MQRankSum=0;QD=21.54;ReadPosRankSum=0.301;SOR=0.509	GT:AD:DP:GQ:PL	0/1:5,3:8:99:111,0,201	16	0	2	1
chr8	98021213	98021213	G	A	exonic	MATN2	.	nonsynonymous SNV	MATN2:NM_001317748:exon12:c.G1705A:p.V569I,MATN2:NM_002380:exon13:c.G1828A:p.V610I,MATN2:NM_030583:exon13:c.G1828A:p.V610I	.	433	1047	41	1	0	43	0.0201217	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	.	0.0083	0.00479233	0.0098	0.0012	0.0027	0.0001	0.0071	0.0121	0.0078	0.0168	0.0093336	1443	154602	rs61729731	0.0094	0.0094	0.0089	0.0099	0.0187	0.0093	0.0092	0.0180	0.0176	0.0016	0.0022	0.0129	0.0002	0.0081	0.0161	0.0095	0.0084	0.0187	0.0075	0.0075	0.0075	0.0074	0.0162	0.0071	0.0070	0.0133	0.0122	0.0012	0.0318	0.0024	0.0153	0.0012	0.0069	0.0068	0.0117	0.0066	0.0162	0.093	0.31532	T	0.1	0.48855	T	0.001	0.07471	B	0.003	0.08700	B	0.304241	0.14544	N	0.631691	0.519229	0.31883	D	0.205	0.09354	N	1.57	0.97317	T	-0.13	0.08971	N	0.082	0.10056	0.039	0.83023	D	0.686	0.89169	D	10	0.008711696	0.00197	T	.	.	.	0.061	0.17616	.	.	0.839547833385	0.83801	0.48597135079498666	0.48517	0.156403761486	0.17651	0.253704488277	0.04168	T	0.070677	0.34018	T	-0.301915	0.08479	T	-0.19152	0.55448	T	0.0017796205268481	0.00018	T	0.80472	0.47619	T	0.043093473	0.06656	0.066421196	0.13602	0.043093473	0.06656	0.066421196	0.13602	-3.801	0.28720	T	.	.	0.068	0.02797	B	.;.;.;.;.	.;.;.;.;.	0.994950	0.13731	10.27	0.97130447718080226	0.32495	0.32416	0.24580	N	AEFDGBI	0.396125	0.47272	N	-0.714072352227259	0.15626	0.7891043	-0.620722908807034	0.18961	1.015249	0.999960451823212	0.48965	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.7	1.44	0.21647	-0.450000	0.06877	-0.053000	0.12521	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.964000	0.52637	0.3342:0.0:0.6658:0.0	8.639	0.33130	818	0.41518	.;EGF-like calcium-binding domain|EGF-like domain;.;.;EGF-like calcium-binding domain|EGF-like domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005035	0.000000	0.004076	0.005848	0.000000	0.017241	0.006098	0.011364	0.02632	1344.33	33	chr8	98021213	.	G	A	1344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.015;DP=747;ExcessHet=0;FS=2.312;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.082;SOR=0.929	GT:AD:DP:GQ:PL	0/1:67,58:125:99:1358,0,1600	18	0	1	0
chr8	102279179	102279179	A	G	exonic	UBR5	.	nonsynonymous SNV	UBR5:NM_001282873:exon43:c.T6031C:p.S2011P,UBR5:NM_015902:exon43:c.T6031C:p.S2011P	.	435	1083	4	0	0	4	0.00184332	.	.	.	3195321	UBR5-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.089	0.00567735812683	0.0033	0.00139776	0.0030	0.0005	0.0003	0	0.0015	0.0048	0.0011	0.0017	0.0032147	497	154602	rs35794419	0.0043	0.0043	0.0044	0.0043	0.0052	0.0043	0.0042	0.0051	0.0050	0.0007	0.0007	3.826e-05	0	0.0019	0.0010	0.0052	0.0037	0.0026	0.0032	0.0032	0.0034	0.0029	0.0057	0.0029	0.0028	0.0053	0.0051	0.0011	0	0.0008	0	0	0.0015	0.0034	0.0057	0.0019	0.0027	0.144	0.25255	T	0.261	0.23029	T	0.0	0.02946	B	0.0	0.01387	B	0.000208	0.47681	D	0.184300	0.872854	0.35597	D	0.345	0.11182	N	0.77	0.49642	T	-1.04	0.27259	N	0.179	0.19325	-1.0759	0.08164	T	0.038	0.16591	T	10	0.0045380294	0.00094	T	0.005677	0.14712	T	0.089	0.25827	.	.	0.0675242888579	0.06100	0.2828771811287362	0.28200	0.862312818367	0.69017	0.466619044542	0.34217	T	0.162631	0.50738	T	-0.558489	0.00259	T	-0.565612	0.15854	T	0.0372322052717209	0.03197	T	0.871813	0.57812	D	0.09069317	0.21230	0.2186153	0.46570	0.09069317	0.21230	0.2186153	0.46569	-4.344	0.28789	T	.	.	0.067	0.02548	B	.;.;.	.;.;.	2.895210	0.38354	20.7	0.99115043232547562	0.52828	0.76011	0.37249	D	AEFBI	0.108417	0.21569	N	-0.438600136204214	0.24129	1.300646	-0.223044676450541	0.30712	1.731601	0.859853993737702	0.25204	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.78	3.03	0.34070	0.790000	0.26562	3.716000	0.39571	0.756000	0.94297	0.892000	0.31242	1.000000	0.68203	0.999000	0.91618	0.572:0.1:0.0:0.328	7.753	0.28072	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	0	0	1	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1121.33	34	chr8	102279179	.	A	G	1121.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.267;DP=702;ExcessHet=0;FS=2.275;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.02;ReadPosRankSum=0.215;SOR=1.071	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1135,0,738	18	0	1	0
chr8	104447451	104447451	T	-	exonic	DPYS	.	frameshift deletion	DPYS:NM_001385:exon3:c.476delA:p.K159Rfs*12	Dihydropyrimidinuria, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3856661	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Pathogenic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.368e-06	1.368e-06	0	2.75e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.993e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1057.29	34	chr8	104447450	.	CT	C	1057.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.96;DP=707;ExcessHet=0;FS=0.852;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.22;ReadPosRankSum=-0.398;SOR=0.636	GT:AD:DP:GQ:PL	0/1:45,35:80:99:1071,0,1427	18	0	1	0
chr8	109481526	109481526	C	A	exonic	PKHD1L1	.	nonsynonymous SNV	PKHD1L1:NM_177531:exon56:c.C9421A:p.L3141I	.	435	1067	19	1	0	21	0.00974478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	.	0.0005	0.00119808	0.0020	0	0.0002	0	0.0003	0.0013	0.0125	0.0072	0.001022	158	154602	rs200961934	0.0006	0.0007	0.0005	0.0008	0.0063	0.0006	0.0006	0.0059	0.0057	3.027e-05	0.0003	0.0048	2.555e-05	5.71e-05	0.0023	0.0002	0.0012	0.0063	0.0005	0.0005	0.0004	0.0006	0.0073	0.0004	0.0004	0.0054	0.0047	4.819e-05	0	0.0002	0.0069	0	0	0	0.0002	0	0.0073	0.055	0.38407	T	0.015	0.61642	D	0.796	0.44790	P	0.673	0.53214	P	0.001034	0.40562	N	0.163065	0.96501	0.25956	N	2.305	0.65957	M	-2.45	0.88847	D	-1.09	0.30140	N	0.398	0.43899	-0.1867	0.78011	T	0.639	0.87376	D	10	0.010953903	0.00242	T	.	.	.	0.336	0.65816	.	.	0.37953744168	0.37561	0.357325073503585	0.35646	0.0425447266547	0.04588	0.351900696754	0.18201	T	0.09838	0.40215	T	-0.350655	0.04686	T	-0.273022	0.47512	T	0.0827592919721143	0.10337	T	0.844016	0.52334	T	0.092409335	0.21679	0.12415299	0.29929	0.092409335	0.21679	0.12415299	0.29928	-4.579	0.31907	T	.	.	0.111	0.31355	B	.;.	.;.	3.288631	0.45089	22.1	0.98521739355580595	0.42471	0.77795	0.38293	D	AEFI	0.298106	0.40751	N	0.170842743986272	0.49802	3.176685	0.199191076164343	0.49802	3.179231	0.0104622321700928	0.12029	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.77	3.84	0.43422	0.576000	0.23446	3.321000	0.37545	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8208:0.0:0.1792	10.079	0.41552	604	0.67577	G8 domain|G8 domain|G8 domain;G8 domain|G8 domain|G8 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	0.006061	0.000000	0.004087	0.008772	0.050000	0.017241	0.003086	0.007576	0.02632	942.33	43	chr8	109481526	.	C	A	942.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.326;DP=765;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=0.414;SOR=0.746	GT:AD:DP:GQ:PL	0/1:19,39:58:99:956,0,415	18	0	1	0
chr8	120490552	120490552	G	A	exonic	MTBP	.	nonsynonymous SNV	MTBP:NM_022045:exon13:c.G1429A:p.A477T	.	435	1085	2	0	0	2	0.00092081	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.140	0.00764654572281	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.902e-07	1.368e-06	1.373e-06	0	9.033e-07	0	0	.	.	0	0	0	0	0	0	9.033e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.048	0.48594	D	0.513	0.37366	P	0.147	0.34014	B	0.000407	0.44736	D	0.228496	0.774785	0.34194	D	2.71	0.79292	M	.	.	.	-2.32	0.51478	N	0.322	0.36254	-0.4582	0.70128	T	0.205	0.56362	T	9	0.4197968	0.56786	T	0.007647	0.20299	T	0.140	0.37593	0.398	0.42590	0.536051623013	0.53255	0.40687079048739905	0.40603	0.151432664417	0.17094	0.335589379072	0.15777	T	0.540921	0.84280	D	-3.37926e-05	0.51649	T	-0.237825	0.51011	T	0.960853636264801	0.65919	D	0.632737	0.24712	T	0.11797933	0.27806	0.16329956	0.37888	0.11797933	0.27805	0.16329956	0.37887	-3.41	0.15191	T	.	.	0.123	0.25817	B	.	.	4.250190	0.64514	24.7	0.99778167311720611	0.86519	0.95210	0.63845	D	AEFDBI	0.434430	0.49548	N	0.074078982244545	0.45254	2.785179	0.153435372050576	0.47324	2.964373	0.994836958884407	0.33823	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.655142	0.61905	0	.	.	5.87	5.0	0.66209	5.051000	0.64074	7.555000	0.60355	-0.185000	0.09859	1.000000	0.71638	1.000000	0.68203	0.823000	0.38780	0.0684:0.0:0.9316:0.0	14.980	0.70957	703	0.57489	MDM2-binding protein, central 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	.	.	.	.	.	.	.	.	0.02632	1024.33	33	chr8	120490552	.	G	A	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.567;DP=710;ExcessHet=0;FS=2.933;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.91;ReadPosRankSum=1.55;SOR=0.412	GT:AD:DP:GQ:PL	0/1:40,46:86:99:1038,0,1031	18	0	1	0
chr8	120811635	120811635	C	T	exonic	SNTB1	.	nonsynonymous SNV	SNTB1:NM_021021:exon1:c.G209A:p.R70K	.	411	1108	3	0	0	3	0.00135196	.	.	.	2369109	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.068224968246	.	0.000798722	0.0005	0.0002	0.0003	0	0.0007	0.0006	0	0.0010	0.0003687	57	154602	rs145732083	0.0006	0.0006	0.0005	0.0007	0.0011	0.0006	0.0006	0.0009	0.0009	0.0001	9.62e-05	0	0	0.0002	0.0007	0.0006	0.0006	0.0011	0.0004	0.0004	0.0005	0.0003	0.0008	0.0004	0.0003	0.0007	0.0006	7.218e-05	0	6.535e-05	0	0	0.0003	0	0.0008	0	0.0008	0.735	0.03753	T	0.928	0.02795	T	0.001	0.07471	B	0.001	0.04355	B	0.001196	0.39899	N	0.160194	0.834722	0.28712	N	0.895	0.22405	L	1.18	0.37746	T	-0.42	0.14193	N	0.277	0.31365	-1.0884	0.05804	T	0.046	0.19720	T	10	0.017380834	0.00371	T	0.068225	0.70390	D	0.053	0.14996	.	.	0.252829632966	0.24901	0.5088952206881259	0.50811	.	.	0.880455970764	0.94022	D	0.209514	0.56974	T	-0.477888	0.00761	T	-0.50967	0.21350	T	0.0124958123732138	0.00206	T	0.50295	0.15803	T	0.21631241	0.44086	0.13308613	0.31921	0.21631241	0.44086	0.13308613	0.31920	-3.528	0.16826	T	.	.	0.117	0.26325	B	.;.	.;.	2.288211	0.29267	18.07	0.96957819408484647	0.31767	0.69522	0.34221	D	AEFDBHCIJ	0.180434	0.30774	N	-0.430022482394311	0.24422	1.318578	-0.201508365737499	0.31482	1.782108	0.999999978329154	0.74766	0.56387	0.32371	0	0.552344	0.17405	0	0.391439	0.06340	0	0.554799	0.18163	0	.	.	5.06	5.06	0.67838	1.302000	0.33063	3.609000	0.39247	0.518000	0.23583	0.827000	0.30089	1.000000	0.68203	0.965000	0.52897	0.0:1.0:0.0:0.0	16.201	0.81895	430	0.80826	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1629.33	38	chr8	120811635	.	C	T	1629.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.39;DP=797;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.47;ReadPosRankSum=0.398;SOR=0.758	GT:AD:DP:GQ:PL	0/1:56,65:121:99:1643,0,1254	18	0	1	0
chr8	127738855	127738855	C	G	exonic	MYC	.	nonsynonymous SNV	MYC:NM_001354870:exon2:c.C635G:p.P212R,MYC:NM_002467:exon2:c.C638G:p.P213R	Burkitt lymphoma, Isolated cases	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.615	0.0762060227159	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221801220	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.576e-06	6.567e-06	1.286e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.052287	0.999998	0.58761	D	3.275	0.90144	M	1.01	0.41058	T	-6.79	0.92863	D	0.778	0.77507	-0.3274	0.74209	T	0.308	0.67831	T	10	0.9239751	0.91747	D	0.076206	0.72474	D	0.615	0.84986	0.809	0.92581	0.621560015809	0.61849	0.6528075985703793	0.65216	.	.	0.714992403984	0.69316	T	0.544987	0.84488	D	0.260968	0.79618	D	0.137086	0.79355	D	0.996220886707306	0.88912	D	0.935106	0.75644	D	0.5903562	0.72170	0.453574	0.68222	0.5903562	0.72171	0.453574	0.68222	-4.075	0.24920	T	0.3178454936435209	0.41592	0.642	0.70601	P	.;.;.;.;.	.;.;.;.;.	4.830575	0.78774	27.0	0.99767021410782575	0.85583	0.99198	0.92678	D	AEFDGBHCI	.	.	.	0.679497316968253	0.78290	6.841638	0.581149936540404	0.73589	5.995257	0.999999999997495	0.74766	0.72623	0.87236	0	0.672317	0.65289	0	0.594344	0.31042	0	0.56214	0.19341	0	.	.	4.88	4.88	0.63131	5.768000	0.68510	7.475000	0.59195	0.520000	0.23804	1.000000	0.71638	1.000000	0.68203	0.660000	0.32968	0.0:1.0:0.0:0.0	17.368	0.87258	962	0.08456	Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, N-terminal;Transcription regulator Myc, 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	.	.	.	.	.	.	.	.	0.02632	1000.33	36	chr8	127738855	.	C	G	1000.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.628;DP=790;ExcessHet=0;FS=11.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.35;ReadPosRankSum=-0.105;SOR=1.75	GT:AD:DP:GQ:PL	0/1:65,42:107:99:1014,0,1660	18	0	1	0
chr8	139618956	139618956	T	C	exonic	KCNK9	.	nonsynonymous SNV	KCNK9:NM_001282534:exon2:c.A427G:p.I143V	Birk-Barel mental retardation dysmorphism syndrome	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.036	0.00285896538679	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1321749969	8.209e-06	8.209e-06	4.084e-06	1.238e-05	0.0002	4.38e-06	3.46e-06	5.395e-05	4.042e-05	0	0	0	2.519e-05	0	0.0002	0	1.656e-05	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.001226	0.39743	N	0.249479	0.99618	0.43063	D	0.74	0.18910	N	1.95	0.22474	T	-0.04	0.07590	N	0.154	0.16725	-1.0014	0.29516	T	0.020	0.08266	T	10	0.095469385	0.17053	T	0.002859	0.06015	T	0.036	0.09122	0.398	0.42590	0.236278675362	0.23226	0.8510158740642203	0.85063	0.917897762411	0.71318	0.697021842003	0.66714	T	0.162616	0.50735	T	-0.435548	0.01374	T	-0.626742	0.10663	T	0.0165644796656419	0.00418	T	0.734227	0.35027	T	0.021495776	0.00756	0.027372578	0.00886	0.021495776	0.00755	0.027372578	0.00885	-3.122	0.11551	T	.	.	0.074	0.10931	B	.;.;.;.;.	.;.;.;.;.	1.580883	0.20228	14.65	0.39398626038232476	0.02716	0.92993	0.57055	D	AEFDGBI	0.427296	0.49130	N	-0.697769689232345	0.16084	0.8164225	-0.472218592968051	0.22923	1.247482	0.00435406639518044	0.10513	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.85	2.2	0.26966	3.810000	0.55318	0.956000	0.22957	-0.147000	0.12262	1.000000	0.71638	0.780000	0.26771	0.963000	0.52385	0.0:0.1449:0.2816:0.5735	5.394	0.15560	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	2528.33	39	chr8	139618956	.	T	C	2528.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.135;DP=947;ExcessHet=0;FS=3.052;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.76;ReadPosRankSum=-0.421;SOR=0.91	GT:AD:DP:GQ:PL	0/1:106,109:215:99:2542,0,2819	18	0	1	0
chr8	143538164	143538164	C	G	exonic	ZC3H3	.	nonsynonymous SNV	ZC3H3:NM_015117:exon2:c.G1203C:p.K401N	.	393	1085	41	3	0	47	0.0211998	.	.	.	1671780	not_provided|Decreased_total_neutrophil_count|Decreased_total_lymphocyte_count	MedGen:C3661900|Human_Phenotype_Ontology:HP:0001875,Human_Phenotype_Ontology:HP:0005515,Human_Phenotype_Ontology:HP:0005533,MONDO:MONDO:0001475,MedGen:C0853697|Human_Phenotype_Ontology:HP:0001888,MONDO:MONDO:0003783,MedGen:C0024312	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.070	.	0.0040	0.00239617	0.0044	0.0010	0.0035	0	0.0006	0.0063	0.0078	0.0028	0.0043984	680	154602	rs145312531	0.0050	0.0050	0.0050	0.0050	0.0161	0.0049	0.0049	0.0135	0.0125	0.0008	0.0032	0.0108	2.519e-05	0.0005	0.0161	0.0055	0.0049	0.0032	0.0042	0.0042	0.0045	0.0039	0.0061	0.0040	0.0039	0.0057	0.0055	0.0008	0.0912	0.0029	0.0110	0	0.0003	0.0102	0.0061	0.0080	0.0015	0.001	0.78490	D	0.215	0.26306	T	0.651	0.40707	P	0.198	0.36766	B	0.146865	0.18099	N	0.533225	1	0.08975	N	1.975	0.53506	M	3.81	0.03754	T	-1.55	0.37566	N	0.261	0.29544	-1.0261	0.21723	T	0.012	0.04510	T	10	0.0025629401	0.00039	T	.	.	.	0.070	0.20419	0.132	0.03662	0.043077524339	0.03247	0.19101010069573193	0.19019	.	.	0.350995391607	0.18068	T	0.029869	0.21306	T	-0.632085	0.00093	T	-0.676997	0.07168	T	0.0164832262250993	0.00413	T	0.735226	0.35154	T	0.13179666	0.30709	0.11634667	0.28087	0.13179666	0.30709	0.11634667	0.28087	-5.937	0.45749	T	.	.	0.379	0.58369	A	.	.	2.450788	0.31553	18.78	0.99737924929366029	0.83264	0.37660	0.25812	N	AEFGBCI	0.097974	0.19752	N	-0.183606738135059	0.33816	1.922929	-0.223506323144549	0.30694	1.730533	0.999950641709415	0.48110	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	4.76	2.58	0.30011	0.536000	0.22838	.	.	0.599000	0.40250	0.002000	0.15269	0.999000	0.35428	0.798000	0.37648	0.0:0.7414:0.0:0.2586	9.487	0.38102	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.012588	0.000000	0.019022	0.008772	0.000000	0.000000	0.015244	0.015152	0.1316	4663.35	42	chr8	143538164	.	C	G	4663.35	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.343;DP=874;ExcessHet=0.0506;FS=0.931;InbreedingCoeff=0.3091;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=16.25;ReadPosRankSum=-0.338;SOR=0.758	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,28:57:99:0|1:143538164_C_G:626,0,1111:143538164	15	1	3	0
chr8	143721618	143721618	G	A	exonic	MAPK15	.	nonsynonymous SNV	MAPK15:NM_139021:exon12:c.G1274A:p.G425E	.	421	1096	5	0	0	5	0.00227583	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	.	.	0.00579073	0.0029	0	0.0009	0.0359	0.0002	0.0002	0.0011	0.0009	0.002652	410	154602	rs35834318	0.0013	0.0013	0.0013	0.0013	0.0424	0.0013	0.0013	0.0407	0.0401	2.991e-05	0.0005	0	0.0424	9.387e-05	0	0.0001	0.0010	0.0006	0.0012	0.0012	0.0012	0.0012	0.0300	0.0011	0.0010	0.0262	0.0247	4.81e-05	0	0.0003	0	0.0300	0	0	0.0002	0.0005	0.0010	0.008	0.58626	D	0.199	0.27679	T	0.421	0.35387	B	0.08	0.28873	B	0.211321	0.16358	U	0.526148	1	0.08975	N	2.39	0.68882	M	-0.72	0.72994	T	-1.59	0.38345	N	0.258	0.29197	-1.0093	0.27136	T	0.061	0.25563	T	10	0.0038855672	0.00074	T	.	.	.	0.059	0.16972	.	.	0.763320079665	0.76116	0.3355714248060343	0.33470	0.117895126679	0.13276	0.464598178864	0.33940	T	0.047461	0.27729	T	-0.432221	0.01437	T	-0.368565	0.37056	T	0.0313423332943114	0.02201	T	.	.	.	0.07885048	0.17980	0.09070122	0.21285	0.07885048	0.17979	0.09070122	0.21284	-3.331	0.14139	T	.	.	0.090	0.12702	B	.	.	0.953288	0.13297	9.797	0.87106021395945676	0.16992	0.02893	0.07682	N	AEFBCI	0.041119	0.06210	N	-0.885150955377113	0.11195	0.5389489	-1.00606868652647	0.09651	0.4814028	0.999673207516022	0.41644	0.634777	0.41761	0	0.588066	0.40923	0	0.643519	0.47002	0	0.613276	0.41899	0	.	.	2.06	1.16	0.19936	-0.114000	0.10729	.	.	0.491000	0.22372	0.000000	0.06391	0.082000	0.22400	0.006000	0.07323	0.205:0.0:0.795:0.0	4.358	0.10623	889	0.27310	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02632	1819.33	94	chr8	143721618	.	G	A	1819.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.13;DP=1110;ExcessHet=0;FS=1.447;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.04;ReadPosRankSum=0.566;SOR=0.568	GT:AD:DP:GQ:PL	0/1:57,64:121:99:1833,0,1441	18	0	1	0
chr8	143924276	143924276	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G5611A:p.A1871T,PLEC:NM_201379:exon31:c.G5587A:p.A1863T,PLEC:NM_201380:exon31:c.G6064A:p.A2022T,PLEC:NM_201381:exon31:c.G5557A:p.A1853T,PLEC:NM_201382:exon31:c.G5653A:p.A1885T,PLEC:NM_201383:exon31:c.G5665A:p.A1889T,PLEC:NM_201384:exon31:c.G5653A:p.A1885T,PLEC:NM_000445:exon32:c.G5734A:p.A1912T	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	2	1514	6	0	0	6	0.00197759	.	.	.	266524	not_specified|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex,_Ogna_type|not_provided	MedGen:CN169374|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.280	.	8e-05	0.00878594	0.0044	0.0001	0.0081	0.0308	0.0085	0.0010	0.0041	0.0014	0.0035122	543	154602	rs201070741	0.0020	0.0020	0.0020	0.0020	0.0429	0.0019	0.0019	0.0412	0.0405	0.0002	0.0062	0.0004	0.0429	0.0064	0.0007	0.0003	0.0025	0.0018	0.0026	0.0026	0.0023	0.0029	0.0374	0.0024	0.0023	0.0331	0.0314	0.0002	0	0.0022	0.0006	0.0374	0.0093	0	0.0006	0.0009	0.0037	0.081	0.37118	T	0.111	0.40110	T	1.0	0.90584	D	0.997	0.86255	D	0.009276	0.30438	U	0.190729	0.948955	0.37631	D	1.265	0.31966	L	-2.87	0.91478	D	-1.14	0.29727	N	0.551	0.58713	0.350	0.88331	D	0.625	0.86821	D	10	0.0057498217	0.00128	T	.	.	.	0.280	0.59740	.	.	0.764658292166	0.76251	0.4453153047724098	0.44449	.	.	0.514962077141	0.40918	T	0.099441	0.40426	T	-0.262414	0.12619	T	-0.127404	0.61189	T	0.0134982564548392	0.00247	T	0.961704	0.85587	D	0.05939172	0.12065	0.1413768	0.33669	0.06742676	0.14600	0.12342586	0.29761	-6.068	0.47809	T	0.15679323834645156	0.18889	0.082	0.09433	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	2.518538	0.32539	19.07	0.98784902344472714	0.46190	0.37148	0.25696	N	AEFDBCI	0.224221	0.34847	N	0.0441907962732565	0.43876	2.672049	-0.0912094851581915	0.35752	2.072	0.999999967902569	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.04	4.04	0.46262	1.095000	0.30575	.	.	0.584000	0.30380	0.344000	0.25709	0.998000	0.33993	0.419000	0.27206	0.0:1.0:0.0:0.0	15.989	0.79977	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	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	0.002523	0.000000	0.001362	0.000000	0.000000	0.000000	0.006135	0.007576	0.02632	1699.33	54	chr8	143924276	.	C	T	1699.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.011;DP=1151;ExcessHet=0;FS=1.232;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=-0.363;SOR=0.818	GT:AD:DP:GQ:PL	0/1:93,73:166:99:1713,0,2225	18	0	1	0
chr8	143925343	143925343	C	T	exonic	PLEC	.	nonsynonymous SNV	PLEC:NM_201378:exon31:c.G4544A:p.R1515H,PLEC:NM_201379:exon31:c.G4520A:p.R1507H,PLEC:NM_201380:exon31:c.G4997A:p.R1666H,PLEC:NM_201381:exon31:c.G4490A:p.R1497H,PLEC:NM_201382:exon31:c.G4586A:p.R1529H,PLEC:NM_201383:exon31:c.G4598A:p.R1533H,PLEC:NM_201384:exon31:c.G4586A:p.R1529H,PLEC:NM_000445:exon32:c.G4667A:p.R1556H	Epidermolysis bullosa simplex with muscular dystrophy, Autosomal recessive;Epidermolysis bullosa simplex with pyloric atresia, Autosomal recessive;Epidermolysis bullosa simplex, Ogna type, Autosomal dominant;Muscular dystrophy, limb-girdle, type 2Q, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	370134	not_specified|Epidermolysis_bullosa_simplex,_Ogna_type|Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia|Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy|Epidermolysis_bullosa_simplex_with_nail_dystrophy|Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q	MedGen:CN169374|MONDO:MONDO:0007555,MedGen:C0432317,OMIM:131950,Orphanet:79401|MONDO:MONDO:0012807,MedGen:C2677349,OMIM:612138,Orphanet:158684|MONDO:MONDO:0009181,MedGen:C2931072,OMIM:226670,Orphanet:257|MONDO:MONDO:0014661,MedGen:C4225309,OMIM:616487|MONDO:MONDO:0013390,MedGen:C3150989,OMIM:613723,Orphanet:254361	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.159	0.653667156034	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1057520714	1.145e-05	1.231e-05	1.274e-05	1.012e-05	2.62e-05	6.78e-06	5.48e-06	7.47e-06	5.84e-06	0	2.62e-05	0	0	2.889e-05	0	1.287e-05	0	0	4.602e-05	4.595e-05	5.144e-05	4.034e-05	0.0002	2.11e-05	1.527e-05	1.973e-05	1.125e-05	0	0	6.538e-05	0	0.0002	0	0	5.886e-05	0	0.0002	0.024	0.50132	D	0.019	0.60337	D	0.999	0.77913	D	0.884	0.62758	P	0.017811	0.27632	U	0.225179	1	0.08975	N	1.9	0.50570	L	1.9	0.77336	T	-2.0	0.47683	N	0.538	0.60325	-0.3225	0.74352	T	0.505	0.81368	D	10	0.60756004	0.67261	D	0.653667	0.97075	D	0.159	0.41286	0.184	0.09259	0.698281041325	0.69567	0.35768449750307735	0.35682	.	.	0.683434486389	0.64763	T	0.287355	0.66015	T	0.0080933	0.52764	T	-0.226151	0.52142	T	0.192845448851585	0.20010	T	0.956971	0.83666	D	0.0619323	0.12881	0.056792367	0.10211	0.08544344	0.19819	0.100439504	0.24015	-6.842	0.53425	T	0.2503662939533261	0.33887	0.169	0.37083	B	.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.	4.018821	0.59339	24.1	0.96702081243007532	0.30777	0.13305	0.17780	N	AEFDBCI	0.080872	0.16358	N	0.0120097754845968	0.42400	2.554041	-0.132444239555937	0.34090	1.95715	0.999999967681023	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.570548	0.19454	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	2.180000	0.42167	.	.	0.589000	0.31548	0.849000	0.30428	0.999000	0.35428	0.006000	0.07323	0.0:1.0:0.0:0.0	16.787	0.85439	970	0.06235	.;.;.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	642.33	54	chr8	143925343	.	C	T	642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.459;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.35;ReadPosRankSum=0.66;SOR=0.588	GT:AD:DP:GQ:PL	0/1:27,25:52:99:656,0,691	18	0	1	0
chr9	117475	117475	G	C	exonic	FOXD4	.	nonsynonymous SNV	FOXD4:NM_207305:exon1:c.C645G:p.F215L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.286	0.16587999655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.574e-06	6.567e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0.0003	0	0	0	0	0	0	0.023	0.48186	D	0.812	0.03921	T	0.924	0.51285	P	0.827	0.59428	P	.	.	.	.	0.999896	0.19781	N	1.585	0.39878	L	-3.51	0.94693	D	-2.43	0.53258	N	0.038	0.01203	0.067	0.83568	D	0.772	0.92259	D	9	0.20349959	0.36508	T	0.16588	0.84463	D	0.286	0.60456	0.327	0.31034	0.716668160974	0.71417	0.16385004026512767	0.16305	.	.	0.789456069469	0.80359	T	0.002228	0.01623	T	-0.0542035	0.43806	T	-0.315636	0.43052	T	0.662082604887371	0.38987	D	0.39616	0.09972	T	0.15671062	0.35351	0.23206285	0.48356	0.15671062	0.35350	0.23206285	0.48355	-1.848	0.02656	T	.	.	0.628	0.70024	P	.	.	2.060003	0.26190	17.03	0.99597868395403555	0.74042	0.03640	0.08888	N	AEFBI	0.092972	0.18816	N	-0.423810767874598	0.24638	1.331687	-0.585282516879468	0.19877	1.068411	0.0634343615361828	0.15295	0.59774	0.34471	0	0.596491	0.49125	0	0.608004	0.38603	0	0.530356	0.10902	0	.	.	2.08	2.08	0.26079	0.031000	0.13598	0.559000	0.19493	0.489000	0.22316	0.007000	0.17678	0.164000	0.23286	0.381000	0.26357	0.0:0.0:1.0:0.0	9.342	0.37247	940	0.13648	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	1557.83	34	chr9	117475	.	G	C	1557.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.469;DP=831;ExcessHet=0.119;FS=0.643;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.37;MQRankSum=1.43;QD=11.21;ReadPosRankSum=1.33;SOR=0.594	GT:AD:DP:GQ:PL	0/1:27,38:65:99:925,0,692	17	0	2	0
chr9	121567	121567	T	A	exonic	CBWD1	.	nonsynonymous SNV	CBWD1:NM_001145356:exon14:c.A1031T:p.N344I,CBWD1:NM_018491:exon15:c.A1088T:p.N363I,CBWD1:NM_001145355:exon16:c.A980T:p.N327I	.	603	913	6	0	0	6	0.00327511	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.258	.	.	0.0159744	0.0098	0.0011	0.0550	0.0391	0.0079	0.0016	0.0067	0.0018	0.0009573	148	154602	rs141981893	0.0030	0.0031	0.0032	0.0027	0.0425	0.0029	0.0028	0.0409	0.0403	0.0004	0.0425	0.0009	0.0346	0.0061	0.0005	0.0003	0.0039	0.0019	0.0040	0.0042	0.0033	0.0048	0.0371	0.0038	0.0037	0.0328	0.0312	0.0008	0	0.0170	0.0017	0.0371	0.0067	0	0.0003	0.0033	0.0040	0.004	0.65419	D	0.076	0.51421	T	0.972	0.57405	D	0.885	0.62898	P	0.000000	0.84330	D	0.050232	1	0.81001	D	3.455	0.92281	M	2.11	0.19860	T	-5.01	0.82450	D	0.565	0.74280	-0.8565	0.51513	T	0.135	0.45029	T	10	0.009170234	0.00207	T	.	.	.	0.258	0.56959	.	.	0.526174771278	0.52262	0.062268376364465076	0.06166	.	.	0.564214527607	0.47861	T	0.094891	0.70642	T	-0.373797	0.03406	T	-0.283947	0.46399	T	0.043995979828565	0.04419	T	0.965703	0.92384	D	0.67332125	0.76611	0.47839704	0.69785	0.67332125	0.76612	0.47839704	0.69785	-8.873	0.69632	D	.	.	0.388	0.63071	A	.;.;.;.;.	.;.;.;.;.	4.527752	0.71055	25.6	0.99211622578463909	0.55594	0.96159	0.67803	D	AEFI	0.757345	0.69633	D	0.520339410941653	0.68294	5.19737	0.389247430327605	0.60902	4.283128	0.00361152661445483	0.10202	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	3.08	3.08	0.34576	4.571000	0.60593	7.810000	0.69404	0.583000	0.30283	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:0.0:1.0	9.583	0.38666	934	0.15400	Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;Cobalamin (vitamin B12) biosynthesis CobW-like, C-terminal;.;Cobalamin (vitamin B12) biosynthesis CobW-like, 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	0.001252	0.000000	0.001370	0.000000	0.000000	0.000000	0.004065	0.000000	0.07895	4850.79	34	chr9	121567	.	T	A	4850.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.702;DP=1072;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=53.83;MQRankSum=0.321;QD=9.42;ReadPosRankSum=-0.934;SOR=0.692	GT:AD:DP:GQ:PL	0/1:76,70:146:99:1555,0,1890	16	0	3	0
chr9	4118388	4118388	G	A	exonic	GLIS3	.	nonsynonymous SNV	GLIS3:NM_152629:exon3:c.C625T:p.P209S,GLIS3:NM_001042413:exon4:c.C1090T:p.P364S	Diabetes mellitus, neonatal, with congenital hypothyroidism, Autosomal recessive	0	1510	12	0	0	12	0.00395778	.	.	.	308470	not_provided|Neonatal_diabetes_mellitus_with_congenital_hypothyroidism|GLIS3-related_disorder|Monogenic_diabetes	MedGen:C3661900|MONDO:MONDO:0012436,MedGen:C1857775,OMIM:610199,Orphanet:79118|.|MONDO:MONDO:0015967,MedGen:C3888631,Orphanet:183625	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.068	0.0038800402016	.	0.00219649	0.0025	0.0010	0.0042	0	0.0004	0.0035	0.0040	0.0007	0.0014812	229	154602	rs143056249	0.0020	0.0020	0.0020	0.0020	0.0023	0.0019	0.0019	0.0023	0.0022	0.0002	0.0020	7.7e-05	0	8.808e-05	0.0023	0.0023	0.0022	0.0006	0.0017	0.0017	0.0017	0.0017	0.0039	0.0015	0.0015	0.0031	0.0028	0.0004	0	0.0039	0	0	0.0003	0.0068	0.0025	0.0024	0.0006	0.83	0.02928	T	0.718	0.06284	T	0.0	0.02946	B	0.0	0.04355	B	0.697453	0.10122	N	0.803093	0.999983	0.18198	N	-0.64	0.02118	N	3.04	0.08898	T	0.47	0.03090	N	0.074	0.04913	-0.9240	0.44999	T	0.004	0.01400	T	10	0.004603833	0.00096	T	0.00388	0.09117	T	0.068	0.19811	.	.	0.38225645794	0.37833	0.194961217048772	0.19414	0.0260877877061	0.02663	0.29513540864	0.09677	T	0.024397	0.18443	T	-0.679831	0.00048	T	-0.754234	0.03323	T	0.0047045980365711	0.00050	T	0.660434	0.26965	T	0.023002176	0.01004	0.0446427	0.05830	0.026016003	0.01606	0.041737553	0.04812	-4.121	0.25599	T	.	.	0.066	0.02118	B	.;.	.;.	0.958715	0.13353	9.855	0.22977797875136988	0.00950	0.27591	0.23320	N	AEFDBI	0.103515	0.20737	N	-1.02634273265923	0.08060	0.3765955	-0.852634052249633	0.13224	0.6848539	0.999982086031212	0.51787	0.525926	0.21836	0	0.573888	0.26702	0	0.596394	0.31383	0	0.584449	0.35598	0	.	.	5.63	2.16	0.26663	1.242000	0.32358	0.637000	0.20283	0.676000	0.76740	0.998000	0.41325	0.011000	0.20116	0.111000	0.18785	0.3448:0.557:0.0982:0.0	7.604	0.27260	882	0.29131	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001012	0.005208	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.05263	2361.81	39	chr9	4118388	.	G	A	2361.81	.	AC=2;AF=0.053;AN=38;DP=774;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=34.73;SOR=1.263	GT:AD:DP:GQ:PL	1/1:0,68:68:99:2389,204,0	18	1	0	0
chr9	14801663	14801663	A	T	exonic	FREM1	.	nonsynonymous SNV	FREM1:NM_001379081:exon20:c.T3683A:p.L1228H,FREM1:NM_144966:exon21:c.T3683A:p.L1228H	Bifid nose with or without anorectal and renal anomalies;Manitoba oculotrichoanal syndrome, Autosomal recessive;Trigonocephaly 2, Autosomal dominant	1	1517	4	0	0	4	0.00131666	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.125	0.0133595662315	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1400525559	6.185e-06	6.157e-06	5.475e-06	6.902e-06	0.0003	2.91e-06	2.11e-06	6.101e-05	2.525e-05	0	0	0	0	0	0.0003	4.522e-06	3.324e-05	0	6.57e-06	6.566e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.052	0.39097	T	0.051	0.47828	T	0.007	0.14184	B	0.021	0.19346	B	0.001242	0.39669	N	0.250325	0.981406	0.39773	D	2.075	0.57047	M	1.58	0.29085	T	-1.01	0.26639	N	0.301	0.38541	-1.0358	0.18606	T	0.090	0.34436	T	10	0.12660825	0.24070	T	0.01336	0.32703	T	0.125	0.34456	0.43	0.47843	0.134241683229	0.13084	0.4622721992036321	0.46145	.	.	0.451329767704	0.32126	T	0.059936	0.31251	T	-0.105515	0.35509	T	-0.389341	0.34627	T	0.544181168079376	0.34260	D	0.613939	0.23413	T	0.22260411	0.44863	0.24550927	0.50041	0.22260411	0.44863	0.24550927	0.50039	-4.176	0.26403	T	0.22057287760708366	0.29736	0.100	0.17146	B	.;.	.;.	1.440709	0.18602	13.83	0.94368066214564539	0.24731	0.82376	0.41613	D	AEFBI	0.209932	0.33588	N	-0.195753160428888	0.33311	1.888398	-0.106733011461343	0.35118	2.027958	0.338196669756765	0.19556	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.51	3.14	0.35196	2.264000	0.42959	2.459000	0.32846	0.691000	0.84096	0.996000	0.39380	0.999000	0.35428	0.954000	0.50415	0.6944:0.3056:0.0:0.0	11.515	0.49766	838	0.37812	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1059.33	34	chr9	14801663	.	A	T	1059.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.041;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.152;SOR=0.605	GT:AD:DP:GQ:PL	0/1:35,39:74:99:1073,0,925	18	0	1	0
chr9	21206602	21206602	C	T	exonic	IFNA10	.	nonsynonymous SNV	IFNA10:NM_002171:exon1:c.G496A:p.V166I	.	425	1078	19	0	0	19	0.00873563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.058	0.0067416697472	0.0047	0.00159744	0.0039	0.0008	0.0017	0	0.0050	0.0058	0.0066	0.0015	0.0036351	562	154602	rs111996205	0.0057	0.0057	0.0058	0.0056	0.0068	0.0056	0.0056	0.0067	0.0066	0.0008	0.0025	0.0025	2.519e-05	0.0039	0.0021	0.0068	0.0042	0.0014	0.0040	0.0040	0.0043	0.0036	0.0064	0.0037	0.0036	0.0059	0.0057	0.0014	0.0077	0.0022	0.0023	0	0.0038	0.0170	0.0064	0.0024	0.0017	0.428	0.09600	T	0.35	0.17478	T	0.01	0.15535	B	0.098	0.30479	B	0.211438	0.16356	N	0.603739	1	0.08975	N	0.94	0.23649	L	3.85	0.03650	T	-0.32	0.12283	N	0.05	0.02179	-0.9005	0.47942	T	0.005	0.01578	T	10	0.00878945	0.00199	T	0.006742	0.17812	T	0.058	0.16647	.	.	0.27479166964	0.27093	0.03224333483997631	0.03172	0.0781142600073	0.08789	0.403188467026	0.25513	T	0.00501	0.04439	T	-0.708063	0.00033	T	-0.784874	0.02309	T	0.00461180378071393	0.00049	T	0.857514	0.54691	D	0.05045114	0.09118	0.037917208	0.03546	0.05045114	0.09117	0.037917208	0.03546	-4.026	0.24192	T	.	.	0.106	0.19478	B	.	.	0.222896	0.06049	2.493	0.88614614976109141	0.18116	0.00202	0.01159	N	AEFI	0.016110	0.00343	N	-1.19330831079294	0.05100	0.2317409	-1.20526167517937	0.05825	0.2786405	7.05669080893917E-5	0.04366	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	3.75	-1.94	0.07158	-3.268000	0.00590	.	.	0.470000	0.21925	0.000000	0.06391	0.000000	0.08366	0.918000	0.45347	0.0:0.324:0.0:0.676	8.684	0.33389	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	0.003171	0.000000	0.004076	0.004098	0.000000	0.000000	0.003049	0.007576	0.02632	4386.33	33	chr9	21206602	.	C	T	4386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.98;DP=1405;ExcessHet=0;FS=1.199;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=58.08;MQRankSum=-4.777;QD=11.22;ReadPosRankSum=0.57;SOR=0.764	GT:AD:DP:GQ:PL	0/1:220,171:391:99:4400,0,5588	18	0	1	0
chr9	34311319	34311319	A	G	exonic	KIF24	.	nonsynonymous SNV	KIF24:NM_194313:exon2:c.T28C:p.C10R	.	432	1089	0	1	0	2	0.000917431	.	.	.	2332350	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.274	0.0136335349244	.	.	8.53e-05	0	0	0.0007	0	1.883e-05	0.0014	9.446e-05	5.17e-05	8	154602	rs771597033	4.953e-05	4.994e-05	4.421e-05	5.496e-05	0.0010	4.004e-05	3.676e-05	0.0008	0.0007	0	0	0	0.0010	0	0	1.549e-05	8.461e-05	0.0001	6.566e-05	6.562e-05	3.855e-05	9.398e-05	0.0015	3.514e-05	2.614e-05	0.0008	0.0006	0	0	0	0	0.0015	0	0	0	0	0.0004	0.057	0.37966	T	0.826	0.03761	T	0.984	0.60733	D	0.825	0.59331	P	0.036116	0.24562	N	0.205916	0.999992	0.58761	D	0.55	0.14455	N	0.95	0.43279	T	-5.49	0.89211	D	0.675	0.71321	-1.0582	0.12209	T	0.101	0.37316	T	10	0.41555658	0.56517	T	0.013634	0.33179	T	0.274	0.59007	0.52	0.62217	0.711402520684	0.70887	0.5054947116060323	0.50471	.	.	0.775542616844	0.78255	T	0.061829	0.31757	T	-0.268071	0.11972	T	-0.249391	0.49878	T	0.297580726971376	0.24904	T	0.70163	0.31127	T	0.881924	0.89826	0.8019369	0.88391	0.881924	0.89827	0.8019369	0.88392	-2.013	0.03567	T	.	.	0.291	0.54116	B	.;.	.;.	4.453594	0.69252	25.3	0.99618161641422531	0.75233	0.93929	0.59602	D	AEFDBI	0.784563	0.71521	D	0.225690528173881	0.52447	3.418783	0.323525886801011	0.56927	3.856748	0.999999996357292	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.39	5.39	0.77615	5.109000	0.64456	11.145000	0.87183	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	1.0:0.0:0.0:0.0	15.388	0.74437	227	0.91186	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	.	.	.	.	.	.	.	.	0.02632	693.33	45	chr9	34311319	.	A	G	693.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=769;ExcessHet=0;FS=4.794;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.24;ReadPosRankSum=-0.126;SOR=1.278	GT:AD:DP:GQ:PL	0/1:47,28:75:99:707,0,1185	18	0	1	0
chr9	35752127	35752127	G	A	exonic	RGP1	.	nonsynonymous SNV	RGP1:NM_001080496:exon8:c.G934A:p.G312S	.	435	1080	6	1	0	8	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.236	.	0.0002	0.01877	0.0086	0.0003	0.0004	0.0903	0.0093	0.0010	0.0156	0.0032	0.007322	1132	154602	rs117436169	0.0034	0.0034	0.0034	0.0034	0.0846	0.0033	0.0033	0.0822	0.0812	0.0002	0.0003	0	0.0846	0.0102	0.0005	0.0004	0.0053	0.0030	0.0041	0.0041	0.0031	0.0050	0.0768	0.0038	0.0037	0.0706	0.0682	0.0005	0	0.0009	0	0.0768	0.0088	0	0.0008	0.0043	0.0066	0.168	0.23007	T	0.528	0.10173	T	0.256	0.31372	B	0.262	0.39564	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.06	0.26948	L	.	.	.	0.28	0.04233	N	0.817	0.81261	-1.0783	0.07681	T	0.009	0.03359	T	9	0.008027047	0.00182	T	.	.	.	0.236	0.53931	.	.	0.223847106136	0.22009	0.5677121351429831	0.56699	0.235098826708	0.26036	0.756472826004	0.75405	T	0.006811	0.06237	T	-0.0607059	0.42797	T	0.203403	0.83313	D	0.0214643458364821	0.00850	T	0.891311	0.62583	D	0.20490862	0.42616	0.25338176	0.50985	0.20490862	0.42616	0.25338176	0.50984	-6.327	0.48936	T	.	.	0.103	0.18497	B	.	.	3.455889	0.48149	22.6	0.98518281409734576	0.42434	0.99418	0.95776	D	AEFDBI	0.931516	0.92045	D	0.0355887456048824	0.43481	2.640117	0.271499661492494	0.53881	3.555123	1.0	0.98316	0.722319	0.85440	0	0.724815	0.89359	0	0.724815	0.87919	0	0.735409	0.98432	0	.	.	5.95	5.95	0.96415	8.868000	0.91959	10.018000	0.83123	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:1.0:0.0	19.36	0.94422	98	0.95963	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	2312.33	36	chr9	35752127	.	G	A	2312.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=907;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=-1.828;SOR=0.665	GT:AD:DP:GQ:PL	0/1:96,99:195:99:2326,0,1964	18	0	1	0
chr9	36217426	36217426	T	C	exonic	GNE	.	nonsynonymous SNV	GNE:NM_001190384:exon10:c.A1778G:p.D593G,GNE:NM_001190383:exon11:c.A1886G:p.D629G,GNE:NM_001190388:exon11:c.A1931G:p.D644G,GNE:NM_001374797:exon11:c.A1955G:p.D652G,GNE:NM_001374798:exon11:c.A1931G:p.D644G,GNE:NM_001128227:exon12:c.A2201G:p.D734G,GNE:NM_005476:exon12:c.A2108G:p.D703G	Nonaka myopathy, Autosomal recessive;Sialuria, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.715	0.795000559655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.018	0.65728	D	0.682	0.47975	P	0.202	0.46460	B	0.000000	0.84330	D	0.089477	1	0.81001	D	1.59	0.40313	L	-4.94	0.99694	D	-1.05	0.37566	N	0.324	0.36674	1.074	0.98710	D	0.972	0.99132	D	10	0.79060614	0.78627	D	0.795001	0.98393	D	0.715	0.89877	0.672	0.81002	0.989804873231	0.98969	0.9140961493075387	0.91384	1.14632707793	0.79085	0.396394729614	0.24567	T	0.846887	0.96479	D	0.234855	0.77176	D	0.0995763	0.76879	D	0.847838606738069	0.49980	D	0.968903	0.88767	D	0.8738637	0.89170	0.56811047	0.74997	0.8738637	0.89171	0.56811047	0.74997	-7.935	0.61350	D	0.11223124384236334	0.09687	0.772	0.75997	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.384087	0.67603	25.1	0.99665961886020704	0.78266	0.98675	0.85440	D	AEFDGBIJ	0.927908	0.91129	D	0.453308551935474	0.64391	4.692547	0.534487875788925	0.70325	5.488713	0.999999999957322	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	7.626000	0.82344	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.0:1.0	13.856	0.63027	422	0.81333	.;.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	3151.33	33	chr9	36217426	.	T	C	3151.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.048;DP=873;ExcessHet=0;FS=0.966;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.56;ReadPosRankSum=0.105;SOR=0.614	GT:AD:DP:GQ:PL	0/1:123,128:251:99:3165,0,3066	18	0	1	0
chr9	37740804	37740804	C	T	exonic	FRMPD1	.	nonsynonymous SNV	FRMPD1:NM_001371223:exon15:c.C2276T:p.P759L,FRMPD1:NM_001371225:exon15:c.C2276T:p.P759L,FRMPD1:NM_014907:exon15:c.C2276T:p.P759L,FRMPD1:NM_001371224:exon16:c.C2276T:p.P759L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.0154358754295	.	0.000199681	2.483e-05	0	0	0	0	4.521e-05	0	0	2.59e-05	4	154602	rs546200227	9.577e-06	9.577e-06	8.167e-06	1.1e-05	2.236e-05	5.56e-06	4.35e-06	4.55e-06	3.32e-06	0	2.236e-05	0	0	1.872e-05	0	8.993e-06	3.311e-05	0	2.626e-05	2.625e-05	2.57e-05	2.685e-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	0.001	0.78490	D	0.004	0.74150	D	0.79	0.44599	P	0.36	0.43183	B	0.068893	0.21642	N	0.517317	0.946895	0.26617	N	2.38	0.68558	M	2.57	0.13552	T	-4.98	0.82141	D	0.16	0.17140	-1.0475	0.15102	T	0.069	0.28180	T	10	0.13054946	0.24845	T	0.015436	0.36172	T	0.077	0.22490	0.289	0.24921	0.409124616982	0.40530	0.4859161840309267	0.48511	0.165591226774	0.18678	0.3413875103	0.16645	T	0.167427	0.51406	T	-0.337391	0.05570	T	-0.614758	0.11603	T	0.824055075645447	0.48075	D	0.653935	0.26417	T	0.09453393	0.22229	0.17796858	0.40434	0.09453393	0.22228	0.17796858	0.40433	-4.795	0.34533	T	.	.	0.074	0.04932	B	.;.	.;.	2.194821	0.27984	17.65	0.9917480210234777	0.54498	0.14155	0.18252	N	AEFDGBI	0.165615	0.29213	N	-0.158283001528843	0.34884	1.996797	-0.248487340959466	0.29823	1.674064	0.999980030572841	0.51787	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	5.46	3.56	0.39892	3.517000	0.53201	0.809000	0.21733	0.599000	0.40250	0.097000	0.22731	0.000000	0.08366	0.616000	0.31793	0.0:0.8165:0.0:0.1835	9.340	0.37233	679	0.60090	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.001359	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	904.33	50	chr9	37740804	.	C	T	904.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.813;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.87;ReadPosRankSum=1.93;SOR=0.665	GT:AD:DP:GQ:PL	0/1:20,37:57:99:918,0,533	18	0	1	0
chr9	42188817	42188817	C	T	exonic	SPATA31A6	.	nonsynonymous SNV	SPATA31A6:NM_001145196:exon4:c.C3115T:p.P1039S	.	0	225	1	0	0	1	0.00221729	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.0456385205545	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887831016	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0002	0.0029	0.0027	0.0020	0.0001	0	0.0034	0	0.0007	8.193e-05	0.0003	7.165e-05	0.0006	0.0007	0.0007	0.0005	0.0020	0.0005	0.0005	0.0016	0.0014	0.0020	0	0.0002	0	0.0020	0	0	6.736e-05	0.0006	0.0003	0.028	0.46129	D	0.022	0.57587	D	.	.	.	.	.	.	0.727608	0.09882	N	0.817547	1	0.08975	N	.	.	.	3.76	0.03892	T	-1.24	0.31375	N	0.02	0.00308	-0.9852	0.33784	T	0.018	0.07612	T	10	0.07540965	0.11651	T	0.001683	0.02779	T	.	.	.	.	0.0954503805726	0.09146	0.12174031007356954	0.12101	.	.	0.281958669424	0.07768	T	0.00615	0.05589	T	-0.331355	0.06009	T	-0.713745	0.05104	T	0.293457955121994	0.24734	T	0.594241	0.21993	T	0.041383933	0.06083	0.046831865	0.06612	0.041383933	0.06083	0.046831865	0.06611	-2.49	0.05713	T	.	.	0.110	0.21125	B	.	.	0.663097	0.10314	7.046	0.98791614284431228	0.46301	0.00515	0.02406	N	AEFI	0.027532	0.02265	N	-0.631091542447212	0.18015	0.9319199	-0.868786497536138	0.12836	0.662633	1.09979115200389E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.69	-0.13	0.12839	-0.113000	0.10745	-20.000000	0.00162	0.210000	0.17975	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.0:0.5112:0.0:0.4888	4.784	0.12586	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1090.45	34	chr9	42188817	.	C	T	1090.45	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.983;DP=632;ExcessHet=0;FS=4.66;InbreedingCoeff=-0.0343;MLEAC=1;MLEAF=0.026;MQ=34.65;MQRankSum=1.61;QD=15.58;ReadPosRankSum=-1.408;SOR=0.272	GT:AD:DP:GQ:PL	0/1:29,41:70:99:1104,0,750	18	0	1	0
chr9	74747900	74747900	A	G	exonic	TRPM6	.	nonsynonymous SNV	TRPM6:NM_001177310:exon31:c.T5057C:p.I1686T,TRPM6:NM_001177311:exon31:c.T5057C:p.I1686T,TRPM6:NM_017662:exon31:c.T5072C:p.I1691T	Hypomagnesemia 1, intestinal, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0231058990097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.056e-06	2.736e-06	1.364e-06	2.756e-06	2.528e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	2.528e-05	0	0	1.801e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.139	0.25873	T	0.562	0.09083	T	0.002	0.09854	B	0.006	0.12133	B	.	.	.	.	1	0.81001	D	0.55	0.14455	N	0.77	0.49642	T	0.72	0.02099	N	0.042	0.01498	-1.1027	0.03779	T	0.045	0.19397	T	9	0.025411487	0.00736	T	0.023106	0.46051	T	0.034	0.08419	0.2	0.11384	0.043077524339	0.03247	0.18401752744216007	0.18320	0.312276279515	0.33530	0.235256046057	0.02379	T	0.105474	0.41598	T	-0.325454	0.06461	T	-0.705268	0.05542	T	0.0321650489754837	0.02332	T	0.142786	0.01162	T	0.035530113	0.04199	0.05522946	0.09647	0.035530113	0.04199	0.05522946	0.09646	-3.179	0.12226	T	.	.	0.050	0.00168	B	.;.;.	.;.;.	0.529861	0.08986	5.767	0.70621821584927424	0.09356	0.09335	0.15112	N	AEFI	0.134100	0.25399	N	-1.02233836326027	0.08141	0.3807035	-0.891123775876019	0.12304	0.6321162	0.0742376348595993	0.15659	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.48	-0.879	0.10076	-0.297000	0.08312	-0.261000	0.10426	-0.163000	0.11536	0.023000	0.19925	0.344000	0.24438	0.995000	0.73285	0.129:0.2841:0.0:0.5869	4.765	0.12500	844	0.36711	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	317.33	37	chr9	74747900	.	A	G	317.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.252;DP=663;ExcessHet=0;FS=1.15;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.05;ReadPosRankSum=0.962;SOR=0.507	GT:AD:DP:GQ:PL	0/1:27,18:45:99:331,0,648	18	0	1	0
chr9	76189177	76189177	T	C	exonic	PCSK5	.	nonsynonymous SNV	PCSK5:NM_001190482:exon19:c.T2464C:p.Y822H,PCSK5:NM_001372043:exon19:c.T2464C:p.Y822H,PCSK5:NM_006200:exon19:c.T2464C:p.Y822H	.	432	1058	29	3	0	35	0.0162715	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	.	0.0002	0.00139776	0.0026	0.0004	0.0004	0	0	0.0002	0.0066	0.0177	0.0021863	338	154602	rs138949162	0.0012	0.0012	0.0006	0.0018	0.0181	0.0012	0.0012	0.0174	0.0171	8.968e-05	0.0002	0	0	0	0.0042	0.0001	0.0013	0.0181	0.0006	0.0006	0.0002	0.0009	0.0122	0.0005	0.0004	0.0097	0.0088	0.0001	0	0.0007	0	0	0	0	0.0001	0	0.0122	0.042	0.91255	D	0.09	0.74150	T	1.0	0.90584	D	0.995	0.83170	D	0.000017	0.62929	N	0.158960	0.995768	0.42845	D	1.665	0.42610	L	0.64	0.52867	T	-3.55	0.68764	D	0.34	0.40963	-0.6813	0.61312	T	0.268	0.63929	T	10	0.008988649	0.00203	T	.	.	.	0.248	0.55615	.	.	0.429435026966	0.42563	0.722959823309916	0.72239	0.111227701114	0.12544	0.479971021414	0.36052	T	0.378387	0.74137	T	-0.399413	0.02336	T	-0.331569	0.41295	T	0.0572492513179974	0.06729	T	0.756924	0.43862	T	0.23949578	0.46840	0.24015962	0.49383	0.23949578	0.46840	0.24015962	0.49382	-5.331	0.47671	T	.	.	0.107	0.40032	B	.;.;.;.	.;.;.;.	2.912691	0.38644	20.8	0.99792041021072841	0.87750	0.93957	0.59684	D	AEFBI	0.370293	0.45672	N	0.436052703106801	0.63417	4.574932	0.353987682553457	0.58749	4.047325	0.376577922199579	0.19921	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.620846	0.47308	0	.	.	5.7	2.08	0.26079	3.631000	0.54022	0.801000	0.21659	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.201:0.0:0.799	9.496	0.38156	905	0.23532	.;.;.;Growth factor receptor domain 4	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.008056	0.000000	0.002717	0.014620	0.000000	0.008621	0.003049	0.022727	0.05263	1242.83	33	chr9	76189177	.	T	C	1242.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.938;DP=700;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11;ReadPosRankSum=1.24;SOR=0.757	GT:AD:DP:GQ:PL	0/1:29,27:56:99:628,0,662	17	0	2	0
chr9	82997016	82997016	A	G	exonic	RASEF	.	nonsynonymous SNV	RASEF:NM_152573:exon14:c.T1916C:p.I639T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.793	0.16202023477	.	.	1.65e-05	0	0	0	0	3.001e-05	0	0	1.29e-05	2	154602	rs751669186	5.65e-06	5.474e-06	5.647e-06	5.653e-06	2.535e-05	2.43e-06	1.76e-06	2.72e-06	1.75e-06	0	0	0	2.535e-05	0	0	6.539e-06	0	0	1.972e-05	1.97e-05	3.854e-05	0	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	0.004	0.65419	D	0.003	0.76473	D	0.954	0.54400	P	0.985	0.76457	D	0.001421	0.39109	N	0.246707	0.999981	0.54805	D	2.6	0.76081	M	-1.37	0.80214	T	-4.09	0.74821	D	0.858	0.85449	0.305	0.87632	D	0.639	0.87391	D	10	0.9774169	0.97572	D	0.16202	0.84168	D	0.793	0.93188	0.872	0.96425	0.829482567802	0.82786	0.6047715587816743	0.60408	0.754637081558	0.63948	0.414985507727	0.27146	T	0.596037	0.86984	D	0.130017	0.67363	D	-0.0355298	0.68000	D	0.979944825172424	0.73096	D	0.871013	0.57621	D	0.53468627	0.69097	0.34948176	0.60573	0.53468627	0.69098	0.34948176	0.60572	-12.006	0.84881	D	.	.	0.455	0.62445	A	.	.	4.670003	0.74633	26.2	0.99821558002964272	0.90414	0.98388	0.82268	D	AEFDBI	0.882881	0.81135	D	0.68003139376482	0.78322	6.848621	0.634422443207195	0.77455	6.682776	0.999957541078523	0.48110	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.564101	0.26826	0	.	.	5.65	4.48	0.53973	9.290000	0.95109	8.091000	0.76520	0.756000	0.94297	1.000000	0.71638	0.992000	0.31684	0.993000	0.69303	0.8663:0.0:0.0:0.1337	11.597	0.50233	913	0.21160	Small GTP-binding protein 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	.	.	.	.	.	.	.	.	0.02632	1863.33	35	chr9	82997016	.	A	G	1863.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.176;DP=782;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.65;ReadPosRankSum=0.621;SOR=0.71	GT:AD:DP:GQ:PL	0/1:82,78:160:99:1877,0,2005	18	0	1	0
chr9	86323072	86323072	G	C	exonic	TUT7	.	nonsynonymous SNV	TUT7:NM_001185074:exon9:c.C2309G:p.S770C,TUT7:NM_001185059:exon13:c.C2678G:p.S893C,TUT7:NM_024617:exon13:c.C2678G:p.S893C,TUT7:NM_001330718:exon14:c.C545G:p.S182C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.179	0.028740471742	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.005	0.72224	D	1.0	0.90584	D	0.994	0.82059	D	0.000154	0.49130	D	0.220851	0.904207	0.36246	D	2.215	0.62545	M	0.21	0.60610	T	-2.21	0.49684	N	0.448	0.68342	-0.3982	0.72084	T	0.303	0.67409	T	10	0.30388108	0.47916	T	0.02874	0.51367	D	0.179	0.44899	0.444	0.50139	0.239312915715	0.23560	0.2827960835067818	0.28192	0.707468071399	0.61491	0.380290567875	0.22297	T	0.050143	0.28509	T	0.111007	0.65456	D	-0.0783226	0.65026	T	0.948582470417023	0.62927	D	0.924208	0.72277	D	0.13598523	0.31541	0.15283899	0.35942	0.13598523	0.31541	0.15283899	0.35942	-5.926	0.45656	T	.	.	0.173	0.42067	B	.;.;.	.;.;.	4.710999	0.75686	26.4	0.99188849495856113	0.54906	0.91449	0.53556	D	AEFGBCI	0.550816	0.56314	D	0.590057878118778	0.72555	5.823982	0.608230509532505	0.75537	6.328024	0.999999772690786	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635259	0.50027	0	.	.	5.48	5.48	0.80675	3.713000	0.54610	9.946000	0.82693	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:0.0:1.0:0.0	19.556	0.95339	595	0.68488	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2174.33	47	chr9	86323072	.	G	C	2174.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.45;DP=863;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.42;ReadPosRankSum=1.21;SOR=0.657	GT:AD:DP:GQ:PL	0/1:83,79:162:99:2188,0,2163	18	0	1	0
chr9	88132145	88132145	C	T	exonic	SPATA31C2	.	nonsynonymous SNV	SPATA31C2:NM_001166137:exon4:c.G892A:p.V298I,SPATA31C2:NM_001350978:exon4:c.G892A:p.V298I	.	415	1106	1	0	0	1	0.000451875	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	0.0001	0.0011	0.0002	0	0	4.524e-05	0	0.0001	0.0002689	7	26028	rs642814	0.0001	0.0001	0.0001	8.963e-05	0.0014	9.356e-05	8.839e-05	0.0011	0.0010	0.0014	8.986e-05	3.838e-05	0	0	0.0002	8.292e-05	0.0002	1.16e-05	0.0006	0.0006	0.0005	0.0006	0.0017	0.0005	0.0004	0.0014	0.0013	0.0017	0	0.0002	0	0	0.0002	0	0.0001	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001161	0.000000	0.001370	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	4042.33	50	chr9	88132145	.	C	T	4042.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.34;DP=1225;ExcessHet=0;FS=2.551;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=53.59;MQRankSum=-18.23;QD=9.76;ReadPosRankSum=0.009;SOR=0.926	GT:AD:DP:GQ:PL	0/1:250,164:414:99:4056,0,6323	18	0	1	0
chr9	92080918	92080918	G	C	exonic	SPTLC1	.	nonsynonymous SNV	SPTLC1:NM_001281303:exon4:c.C306G:p.N102K,SPTLC1:NM_006415:exon4:c.C306G:p.N102K,SPTLC1:NM_178324:exon4:c.C306G:p.N102K	Neuropathy, hereditary sensory and autonomic, type IA, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.845	0.399896509883	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0011	0.0068	0.0012	0.0010	0.0013	0.0011	0.0010	0.0013	0.0012	0.0012	4.477e-05	0.0003	0.0002	1.873e-05	0.0009	0.0013	0.0009	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.91255	D	0.005	0.92824	D	1.0	0.90584	D	0.997	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.83	0.95627	H	-3.73	0.95458	D	-5.47	0.87143	D	0.946	0.96984	1.004	0.97255	D	0.941	0.98064	D	10	0.97626525	0.97408	D	0.399897	0.93374	D	0.845	0.95175	0.798	0.91802	0.945416172085	0.94484	0.9614716476571766	0.96133	1.13632118652	0.78799	0.737543225288	0.72611	T	0.97255	0.99710	D	0.219858	0.75763	D	0.0780339	0.75447	D	0.995089709758759	0.86803	D	0.978602	0.92442	D	0.9519136	0.96460	0.8880654	0.94130	0.9519136	0.96460	0.8880654	0.94130	-14.216	0.93737	D	0.860758186576928	0.92428	0.988	0.93037	P	.;.	.;.	4.020987	0.59386	24.1	0.9926344721683531	0.57289	0.83408	0.42527	D	AEFBI	0.256177	0.37516	N	0.211284656944223	0.51746	3.353416	0.0637648407406021	0.42742	2.59063	0.00398181740670549	0.10368	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.0	2.15	0.26590	1.717000	0.37612	4.300000	0.42938	-0.106000	0.15538	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.3508:0.0:0.6492:0.0	10.600	0.44552	892	0.26670	Aminotransferase, class I/classII;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	14305.3	565	chr9	92080918	.	G	C	14305.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.988;DP=7105;ExcessHet=38.2876;FS=417.684;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.21;ReadPosRankSum=1.11;SOR=15.946	GT:AD:DP:GQ:PL	0/1:225,157:395:99:1165,0,3704	1	0	18	0
chr9	106974250	106974250	T	C	exonic	ZNF462	.	nonsynonymous SNV	ZNF462:NM_001347997:exon9:c.T4214C:p.I1405T,ZNF462:NM_021224:exon9:c.T6809C:p.I2270T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.332	0.0225480179474	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.107	0.29554	T	0.0	0.92824	D	0.998	0.73220	D	0.987	0.77487	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.575	0.39704	L	3.38	0.05778	T	-0.68	0.36980	N	0.873	0.87049	-1.0740	0.08556	T	0.061	0.25455	T	10	0.3783521	0.54005	T	0.022548	0.45449	T	0.332	0.65424	0.419	0.46036	0.043077524339	0.03247	0.5838881706070325	0.58317	2.02329959298	0.94019	0.924512147903	0.98647	D	0.011805	0.11071	T	0.105501	0.64882	D	-0.0862318	0.64445	T	0.798904538154602	0.46279	D	0.963604	0.86445	D	0.1377539	0.31884	0.16932428	0.38958	0.1377539	0.31884	0.16932428	0.38957	-11.857	0.84147	D	.	.	0.989	0.94382	P	.;.;.	.;.;.	4.830708	0.78774	27.0	0.99799257148110543	0.88461	0.98380	0.82188	D	AEFBI	0.909931	0.86721	D	0.462121070414506	0.64895	4.754563	0.527672054984196	0.69859	5.42084	0.999999998491949	0.74766	0.67177	0.52595	0	0.546412	0.12157	0	0.702456	0.68683	0	0.635551	0.53088	0	.	.	5.66	5.66	0.87293	7.645000	0.82580	6.207000	0.54965	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.988000	0.63387	0.0:0.0:0.0:1.0	15.905	0.79209	677	0.60274	Zinc finger C2H2-type;Zinc finger C2H2-type;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	2677.08	37	chr9	106974250	.	T	C	2677.08	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.688;DP=2043;ExcessHet=2.0135;FS=235.068;InbreedingCoeff=-0.2261;MLEAC=6;MLEAF=0.176;MQ=60;MQRankSum=0;QD=2.93;ReadPosRankSum=1.51;SOR=11.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:128,67:195:99:.:.:324,0,2128:.	11	0	6	2
chr9	108855134	108855134	G	A	exonic	ACTL7B	.	nonsynonymous SNV	ACTL7B:NM_006686:exon1:c.C797T:p.P266L	.	295	1221	6	0	0	6	0.00245098	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.00752112602978	0.0008	0.000399361	0.0014	0.0003	0.0023	0	0	0.0019	0.0012	0.0001	0.0013001	201	154602	rs115068245	0.0014	0.0014	0.0014	0.0014	0.0028	0.0013	0.0013	0.0017	0.0014	0.0002	0.0012	0.0103	0	3.823e-05	0.0028	0.0014	0.0017	0.0002	0.0011	0.0011	0.0010	0.0012	0.0017	0.0009	0.0009	0.0014	0.0013	0.0002	0	0.0005	0.0081	0	9.416e-05	0.0034	0.0017	0.0014	0	1.0	0.00964	T	0.544	0.09621	T	0.005	0.12996	B	0.011	0.15521	B	0.001988	0.37503	N	0.000000	0.992447	0.23881	N	1.195	0.30194	L	3.24	0.06845	T	0.66	0.02297	N	0.136	0.13341	-1.0165	0.24852	T	0.018	0.07470	T	10	0.0058436394	0.00130	T	0.007521	0.19952	T	0.099	0.28413	.	.	0.462982567029	0.45924	0.8605460909224839	0.86018	1.24303543032	0.81606	0.410971820354	0.26592	T	0.353538	0.72081	T	-0.535157	0.00358	T	-0.571572	0.15306	T	0.0131929458371452	0.00234	T	0.707729	0.31835	T	0.04835459	0.08413	0.058558825	0.10839	0.04835459	0.08413	0.058558825	0.10839	-3.266	0.13302	T	.	.	0.120	0.24934	B	.	.	2.500909	0.32279	19.00	0.77532047738309784	0.11915	0.45036	0.27449	N	AEFDBI	0.044702	0.07225	N	-0.548765397085854	0.20522	1.08247	-0.496933823152631	0.22239	1.206904	0.99988958161483	0.44867	0.517182	0.21443	0	0.588066	0.40923	0	0.478664	0.07449	1	0.542086	0.14980	0	.	.	5.26	3.37	0.37692	4.440000	0.59717	7.383000	0.58465	0.672000	0.70159	0.975000	0.34726	1.000000	0.68203	0.005000	0.06747	0.1664:0.0:0.6688:0.1647	5.378	0.15475	915	0.20917	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.004087	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1612.33	35	chr9	108855134	.	G	A	1612.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.41;DP=894;ExcessHet=0;FS=0.628;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.209;SOR=0.629	GT:AD:DP:GQ:PL	0/1:80,60:140:99:1626,0,2066	18	0	1	0
chr9	109943006	109943006	G	T	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001037293:exon7:c.G721T:p.A241S,PALM2AKAP2:NM_053016:exon7:c.G817T:p.A273S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.192	0.0118219655845	.	.	.	.	.	.	.	.	.	.	.	.	.	rs987764582	5.473e-06	5.472e-06	4.084e-06	6.875e-06	1.159e-05	2.35e-06	1.7e-06	.	.	0	0	0	0	0	0	0	0.0001	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.522	0.18246	T	0.704	0.07766	T	0.989	0.62824	D	0.869	0.61749	P	.	.	.	.	1	0.81001	D	1.78	0.46185	L	2.35	0.16217	T	-0.35	0.13226	N	0.095	0.23125	-1.1391	0.01392	T	0.081	0.32002	T	9	0.25007588	0.42328	T	0.011822	0.29821	T	0.192	0.47115	.	.	0.604342690544	0.60117	0.13835584810251533	0.13759	0.338721449428	0.35836	.	.	.	0.049039	0.28191	T	-0.156628	0.27279	T	-0.462762	0.26298	T	0.433633277350203	0.30195	T	0.831417	0.49863	T	0.12647909	0.29622	0.13265502	0.31829	0.12647909	0.29622	0.13265502	0.31828	-5.306	0.40003	T	.	.	0.143	0.39949	B	.;.;.;.	.;.;.;.	3.515947	0.49260	22.7	0.99385093095610433	0.62068	0.98795	0.86952	D	AEFBI	0.763295	0.70044	D	0.580783268938007	0.71975	5.733572	0.638148336940381	0.77732	6.73613	0.99996382001245	0.48965	0.638212	0.43195	0	0.547309	0.14657	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.904000	0.62975	11.905000	0.99459	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	19.868	0.96822	820	0.40914	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2669.33	33	chr9	109943006	.	G	T	2669.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.607;DP=811;ExcessHet=0;FS=9.276;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.61;ReadPosRankSum=1.12;SOR=1.179	GT:AD:DP:GQ:PL	0/1:71,100:171:99:2683,0,1893	18	0	1	0
chr9	110137052	110137052	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_001136562:exon2:c.G815C:p.R272T,PALM2AKAP2:NM_001198656:exon2:c.G1082C:p.R361T,PALM2AKAP2:NM_007203:exon8:c.G1508C:p.R503T,PALM2AKAP2:NM_147150:exon8:c.G1508C:p.R503T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0618637391386	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.424e-06	0.0004	4.089e-06	2.753e-06	3.602e-06	1e-06	7.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	1.657e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.024	0.57104	D	0.949	0.65571	P	0.496	0.73820	P	0.002376	0.36688	N	0.265487	0.528475	0.31955	D	2.125	0.59049	M	0.88	0.46028	T	-1.48	0.56144	N	0.354	0.44857	-0.5485	0.66844	T	0.199	0.55442	T	10	0.25693607	0.43103	T	0.061864	0.68469	D	0.118	0.32913	0.194	0.10571	0.52468985305	0.52114	0.3132723605175298	0.31240	0.508839714498	0.49031	0.421055316925	0.27981	T	0.068456	0.33461	T	-0.00465218	0.51011	T	-0.244459	0.50362	T	0.82229095697403	0.47942	D	0.916508	0.71628	D	0.14253841	0.32799	0.105709225	0.25417	0.14253841	0.32798	0.105709225	0.25416	-6.736	0.54231	T	.	.	0.488	0.66996	A	.;.;.;.;.;.	.;.;.;.;.;.	3.479942	0.48587	22.6	0.93161729188529674	0.22814	0.93481	0.58334	D	AEFBCIJ	0.371545	0.45752	N	0.194427995474043	0.50931	3.278602	0.1677655242984	0.48093	3.029822	0.999992215884336	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.63	4.73	0.59485	3.590000	0.53726	5.886000	0.50702	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.013000	0.09966	0.1723:0.0:0.8277:0.0	8.596	0.32880	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	885.98	94	chr9	110137052	.	G	C	885.98	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-2.727;DP=1351;ExcessHet=1.3;FS=149.897;InbreedingCoeff=-0.3039;MLEAC=7;MLEAF=0.292;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.02;SOR=9.75	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,29:105:99:0|1:110137052_G_C:371,0,2455:110137052	7	0	5	7
chr9	110137054	110137054	G	C	exonic	PALM2AKAP2	.	nonsynonymous SNV	PALM2AKAP2:NM_001004065:exon2:c.G1084C:p.A362P,PALM2AKAP2:NM_001136562:exon2:c.G817C:p.A273P,PALM2AKAP2:NM_001198656:exon2:c.G1084C:p.A362P,PALM2AKAP2:NM_007203:exon8:c.G1510C:p.A504P,PALM2AKAP2:NM_147150:exon8:c.G1510C:p.A504P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.0240367102959	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.656e-05	0.0033	4.12e-05	3.187e-05	0.0002	2.851e-05	2.586e-05	3.493e-05	3.152e-05	3.008e-05	0	3.836e-05	0	0	0.0002	4.541e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.12	0.27904	T	0.206	0.31833	T	0.98	0.77913	D	0.731	0.84481	P	0.000361	0.45440	D	0.192211	0.801683	0.34520	D	1.6	0.40776	L	0.85	0.47130	T	-0.13	0.17417	N	0.259	0.43029	-0.7007	0.60404	T	0.211	0.57174	T	10	0.23016733	0.39961	T	0.024037	0.47022	T	0.106	0.30130	0.217	0.13788	0.713993983955	0.71148	0.23740471580261735	0.29225	0.516168458663	0.49506	0.390263020992	0.23706	T	0.030762	0.21729	T	-0.0678756	0.41665	T	-0.335275	0.40877	T	0.783624947071075	0.45278	D	0.90061	0.65471	D	0.24448925	0.47398	0.26249248	0.52042	0.24448925	0.47398	0.26249248	0.52041	-8.416	0.66933	D	.	.	0.663	0.75561	P	.;.;.;.;.;.	.;.;.;.;.;.	4.039548	0.59798	24.1	0.98775053701776594	0.46033	0.67690	0.33524	D	AEFBCIJ	0.269496	0.38576	N	0.281387811107843	0.55205	3.684758	0.278666808938951	0.54296	3.594986	0.999998236571977	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.80507	0.99327	0	0.711	0.71501	0	.	.	5.42	4.46	0.53567	3.170000	0.50516	7.765000	0.68366	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.3075:0.6925:0.0	11.752	0.51121	923	0.18507	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	735.86	94	chr9	110137054	.	G	C	735.86	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-3.926;DP=1423;ExcessHet=0.7564;FS=146.64;InbreedingCoeff=-0.1527;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=2.08;ReadPosRankSum=1.71;SOR=9.25	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,29:105:99:0|1:110137052_G_C:371,0,2455:110137052	14	0	3	2
chr9	110406407	110406407	C	A	exonic	SVEP1	.	nonsynonymous SNV	SVEP1:NM_153366:exon38:c.G9193T:p.G3065C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.337	0.0115628140936	.	.	8.286e-06	0	0	0	0	1.499e-05	0	0	6.5e-06	1	154602	rs768349767	4.789e-06	4.788e-06	5.445e-06	4.126e-06	5.396e-06	1.99e-06	1.28e-06	1.94e-06	1.28e-06	0	0	0	0	0	0	5.396e-06	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.83351	D	1.0	0.90584	D	0.993	0.81110	D	0.000011	0.62929	D	0.149633	0.99044	0.41161	D	4.19	0.97772	H	.	.	.	.	.	.	0.355	0.42345	-0.5254	0.67714	T	0.252	0.62189	T	10	0.4072864	0.55981	T	0.011563	0.29307	T	0.337	0.65913	0.56	0.67958	0.110392049598	0.10638	0.6594878585333578	0.65885	0.501333492851	0.48519	0.470808386803	0.34791	T	0.12768	0.45486	T	0.0412874	0.57214	T	-0.17847	0.56665	T	0.99547004699707	0.87491	D	0.774123	0.40598	T	0.36089796	0.57904	0.26503465	0.52331	0.36089796	0.57905	0.26503465	0.52330	-8.375	0.63599	D	.	.	0.399	0.59522	A	.;.	.;.	4.234574	0.64158	24.7	0.994390988576899	0.64670	0.99187	0.92514	D	AEFDBI	0.887423	0.81966	D	0.784825778690251	0.85147	8.49034	0.684896538234898	0.81232	7.478771	0.479094416416694	0.20770	0.553676	0.25195	0	0.563428	0.19063	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.71	5.71	0.89031	2.280000	0.43103	5.897000	0.50837	0.547000	0.25779	0.998000	0.41325	1.000000	0.68203	0.642000	0.32476	0.0:1.0:0.0:0.0	19.863	0.96791	969	0.06854	Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain;Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain|Sushi/SCR/CCP domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1893.33	74	chr9	110406407	.	C	A	1893.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.885;DP=1429;ExcessHet=0;FS=6.591;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.76;ReadPosRankSum=-0.739;SOR=1.15	GT:AD:DP:GQ:PL	0/1:101,75:176:99:1907,0,2793	18	0	1	0
chr9	112416942	112416948	GTGGTAG	-	exonic	HSDL2	.	nonframeshift deletion	HSDL2:NM_032303:exon5:c.497_499del:p.C166_A167delinsS	.	424	1093	5	0	0	5	0.00228206	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0	8.969e-05	0	0	7.78e-05	0	0.0010	0.0001358	21	154602	rs753784761	8.629e-05	0.0001	6.066e-05	0.0001	0.0016	7.332e-05	6.851e-05	0.0008	0.0006	0	0.0001	0	2.564e-05	1.876e-05	0.0016	3.441e-05	0.0001	0.0007	8.535e-05	8.53e-05	3.855e-05	0.0001	0.0008	4.953e-05	3.96e-05	0.0003	0.0002	4.811e-05	0	0	0	0	0	0	0.0001	0	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3630.75	42	chr9	112416941	.	TGTGGTAG	T	3630.75	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.484;DP=796;ExcessHet=0.3672;FS=2.458;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.37;ReadPosRankSum=0.947;SOR=0.523	GT:AD:DP:GQ:PL	0/1:44,34:78:99:1296,0,1745	16	0	3	0
chr9	114330017	114330017	G	A	exonic	ORM2	.	nonsynonymous SNV	ORM2:NM_000608:exon1:c.G113A:p.R38Q	.	435	1084	3	0	0	3	0.00138185	0	0.008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	.	.	0.00319489	0.0039	0.0149	0.0035	0.0104	0.0030	0.0028	0.0022	0.0023	0.0013831	36	26028	rs147969317	0.0017	0.0032	0.0017	0.0017	0.0100	0.0016	0.0016	0.0091	0.0088	0.0100	0.0016	0.0181	0.0049	0.0012	0.0034	0.0009	0.0031	0.0015	0.0034	0.0048	0.0036	0.0032	0.0077	0.0032	0.0031	0.0070	0.0067	0.0077	0	0.0010	0.0199	0.0054	0.0006	0.0073	0.0012	0.0031	0.0015	0.544	0.06713	T	0.331	0.18505	T	0.026	0.19406	B	0.001	0.04355	B	0.018297	0.01484	N	2.323500	1	0.08975	N	0.55	0.14455	N	2.45	0.15028	T	0.49	0.02993	N	0.05	0.02179	-1.0407	0.17101	T	0.032	0.13767	T	10	0.003000021	0.00049	T	.	.	.	0.012	0.01476	.	.	0.0954503805726	0.09146	0.24244381273343107	0.24158	1.7173250147	0.90521	.	.	.	0.00128	0.00766	T	-0.452833	0.01087	T	-0.88824	0.00589	T	0.000523507168379068	0.00004	T	0.556144	0.19298	T	0.063782714	0.13466	0.058953926	0.10981	0.063782714	0.13466	0.058953926	0.10980	-1.651	0.02104	T	.	.	0.072	0.04159	B	.	.	-0.644395	0.01455	0.089	0.70322285213462099	0.09258	0.00704	0.02988	N	AEFDGBI	0.347476	0.44193	N	-1.62254332619592	0.01156	0.05024092	-1.66498243087482	0.01300	0.05866159	0.999995258515621	0.74766	0.559995	0.30671	0	0.514364	0.08380	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	2.77	-2.56	0.05903	-1.109000	0.03420	-1.826000	0.04656	-1.915000	0.00511	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.3508:0.0:0.2901:0.359	2.588	0.04542	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007611	0.000000	0.013699	0.025424	0.000000	0.000000	0.000000	0.000000	0.02632	1338.33	39	chr9	114330017	.	G	A	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.422;DP=777;ExcessHet=0;FS=2.961;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.44;MQRankSum=-0.299;QD=8.98;ReadPosRankSum=0.012;SOR=0.971	GT:AD:DP:GQ:PL	0/1:87,62:149:99:1352,0,2121	18	0	1	0
chr9	114406374	114406374	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1164C:p.R388S,WHRN:NM_001083885:exon9:c.G1068C:p.R356S,WHRN:NM_001173425:exon9:c.G2217C:p.R739S,WHRN:NM_015404:exon9:c.G2217C:p.R739S	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3824	7995.7	272	chr9	114406374	.	C	G	7995.7	.	AC=13;AF=0.382;AN=34;BaseQRankSum=-3.035;DP=4089;ExcessHet=13.8672;FS=165.2;InbreedingCoeff=-0.5835;MLEAC=14;MLEAF=0.412;MQ=60;MQRankSum=0;QD=3.01;ReadPosRankSum=0.718;SOR=13.316	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,33:245:99:0|1:114406374_C_G:259,0,8129:114406374	4	0	13	2
chr9	114406375	114406375	C	G	exonic	WHRN	.	nonsynonymous SNV	WHRN:NM_001346890:exon5:c.G1163C:p.R388T,WHRN:NM_001083885:exon9:c.G1067C:p.R356T,WHRN:NM_001173425:exon9:c.G2216C:p.R739T,WHRN:NM_015404:exon9:c.G2216C:p.R739T	Deafness, autosomal recessive 31, Autosomal recessive;Usher syndrome, type 2D, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2778	6730.11	112	chr9	114406375	.	C	G	6730.11	.	AC=10;AF=0.278;AN=36;BaseQRankSum=-6.068;DP=3407;ExcessHet=6.9875;FS=164.626;InbreedingCoeff=-0.3828;MLEAC=10;MLEAF=0.278;MQ=60;MQRankSum=0;QD=3.3;ReadPosRankSum=0.637;SOR=12.623	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,33:245:99:0|1:114406374_C_G:259,0,8129:114406374	8	0	10	1
chr9	121074833	121074833	G	A	exonic	C5	.	nonsynonymous SNV	C5:NM_001317163:exon1:c.C4T:p.P2S	C5 deficiency	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs887105125	4.607e-05	2.226e-05	3.057e-05	5.78e-05	8.808e-05	2.771e-05	2.188e-05	5.302e-05	4.188e-05	0	0	0	0	0	0	8.808e-05	0	0	4.598e-05	4.596e-05	0	9.412e-05	0.0001	2.109e-05	1.526e-05	4.764e-05	3.338e-05	0	0	0	0	0	0	0	0.0001	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2443.33	33	chr9	121074833	.	G	A	2443.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.608;DP=817;ExcessHet=0;FS=1.207;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.96;ReadPosRankSum=-0.804;SOR=0.826	GT:AD:DP:GQ:PL	0/1:77,98:175:99:2457,0,1712	18	0	1	0
chr9	121302986	121302986	G	T	exonic	GSN	.	nonsynonymous SNV	GSN:NM_000177:exon3:c.G425T:p.R142L,GSN:NM_001127662:exon3:c.G272T:p.R91L,GSN:NM_001258029:exon3:c.G323T:p.R108L,GSN:NM_001258030:exon3:c.G296T:p.R99L,GSN:NM_001353055:exon4:c.G272T:p.R91L,GSN:NM_001353057:exon4:c.G272T:p.R91L,GSN:NM_001353062:exon4:c.G272T:p.R91L,GSN:NM_001353063:exon4:c.G305T:p.R102L,GSN:NM_001353067:exon4:c.G305T:p.R102L,GSN:NM_001353075:exon4:c.G305T:p.R102L,GSN:NM_001353077:exon4:c.G305T:p.R102L,GSN:NM_198252:exon4:c.G272T:p.R91L,GSN:NM_001127663:exon5:c.G380T:p.R127L,GSN:NM_001127664:exon5:c.G272T:p.R91L,GSN:NM_001127665:exon5:c.G272T:p.R91L,GSN:NM_001127666:exon5:c.G305T:p.R102L,GSN:NM_001127667:exon5:c.G305T:p.R102L,GSN:NM_001353056:exon5:c.G272T:p.R91L,GSN:NM_001353058:exon5:c.G272T:p.R91L,GSN:NM_001353059:exon5:c.G272T:p.R91L,GSN:NM_001353060:exon5:c.G272T:p.R91L,GSN:NM_001353061:exon5:c.G272T:p.R91L,GSN:NM_001353070:exon5:c.G305T:p.R102L,GSN:NM_001353076:exon5:c.G344T:p.R115L,GSN:NM_001353064:exon6:c.G305T:p.R102L,GSN:NM_001353065:exon6:c.G305T:p.R102L,GSN:NM_001353066:exon6:c.G305T:p.R102L,GSN:NM_001353068:exon6:c.G305T:p.R102L,GSN:NM_001353069:exon6:c.G305T:p.R102L,GSN:NM_001353071:exon6:c.G305T:p.R102L,GSN:NM_001353072:exon6:c.G305T:p.R102L,GSN:NM_001353074:exon6:c.G305T:p.R102L,GSN:NM_001353073:exon7:c.G305T:p.R102L,GSN:NM_001353053:exon12:c.G272T:p.R91L,GSN:NM_001353054:exon12:c.G272T:p.R91L	Amyloidosis, Finnish type, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	3142530	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.118	0.00975534117397	0.0002	.	4.145e-05	0	0	0	0	7.556e-05	0	0	3.23e-05	5	154602	rs138153246	2.258e-05	2.257e-05	1.634e-05	2.888e-05	0.0002	1.61e-05	1.417e-05	1.914e-05	1.661e-05	0	0	0	0	0	0.0002	2.698e-05	3.312e-05	0	4.6e-05	4.597e-05	0	9.416e-05	0.0001	2.109e-05	1.527e-05	4.764e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	0.231	0.18823	T	0.275	0.22761	T	0.072	0.23997	B	0.055	0.25995	B	0.000005	0.62929	D	0.104080	0.729828	0.36775	D	0.91	0.23283	L	0.67	0.52187	T	-1.65	0.59545	N	0.508	0.57263	-1.0242	0.22344	T	0.056	0.23639	T	10	0.21495125	0.38033	T	0.009755	0.25449	T	0.118	0.32913	.	.	0.647084603319	0.64416	0.6522120701850136	0.65157	0.545019556791	0.51540	0.466607928276	0.34216	T	0.029412	0.50167	T	-0.2147	0.18721	T	-0.341627	0.40159	T	0.13834595642424	0.16131	T	0.948305	0.80045	D	0.34102046	0.56360	0.23734736	0.49030	0.34102046	0.56360	0.23734736	0.49029	-6.583	0.55989	T	.	.	0.175	0.43962	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	4.110138	0.61357	24.3	0.99367681651522877	0.61283	0.89612	0.50188	D	AEFBCI	0.788585	0.71803	D	-0.208077951494937	0.32803	1.853986	-0.0406058209007126	0.37899	2.225388	0.999990194072184	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.79	2.61	0.30255	3.899000	0.56000	3.853000	0.40098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.977000	0.56843	0.5019:0.0:0.4981:0.0	5.283	0.14997	932	0.16191	.;Gelsolin-like domain;.;Gelsolin-like domain;Gelsolin-like domain;Gelsolin-like domain;.;Gelsolin-like 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	.	.	.	.	.	.	.	.	0.02632	2524.33	33	chr9	121302986	.	G	T	2524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.17;DP=800;ExcessHet=0;FS=2.14;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.72;ReadPosRankSum=1.66;SOR=0.519	GT:AD:DP:GQ:PL	0/1:56,95:151:99:2538,0,1249	18	0	1	0
chr9	122750215	122750215	G	A	exonic	OR1L6	.	nonsynonymous SNV	OR1L6:NM_001004453:exon2:c.G368A:p.R123Q	.	432	1081	8	1	0	10	0.00460405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.605	0.0293884667453	0.0003	.	0.0005	9.621e-05	0.0006	0	0	0.0007	0.0011	0.0004	0.0004722	73	154602	rs200034055	0.0005	0.0005	0.0004	0.0005	0.0033	0.0004	0.0004	0.0022	0.0018	0.0001	0.0004	0	7.557e-05	1.872e-05	0.0033	0.0005	0.0006	0.0008	0.0004	0.0004	0.0004	0.0003	0.0008	0.0003	0.0003	0.0004	0.0004	0.0001	0	0.0003	0	0.0002	0	0	0.0006	0.0009	0.0008	0.001	0.78490	D	0.001	0.83351	D	0.936	0.52359	P	0.401	0.44513	B	0.000100	0.51296	D	0.000000	0.996827	0.43441	D	3.685	0.94485	H	-1.06	0.76819	T	-3.81	0.71882	D	0.722	0.82761	0.097	0.84116	D	0.461	0.79078	T	10	0.7076005	0.72837	D	0.029388	0.51906	D	0.605	0.84452	.	.	0.861613838153	0.86027	0.4320018680132829	0.43117	0.753655960627	0.63907	0.233626097441	0.02247	T	0.184124	0.53668	T	-0.0269628	0.47858	T	0.10671	0.77354	D	0.195371025171588	0.20156	T	0.885611	0.61095	D	0.8005201	0.83938	0.6463544	0.79322	0.8005201	0.83940	0.6463544	0.79322	-8.687	0.65661	D	.	.	0.224	0.45859	B	.;.	.;.	4.182065	0.62963	24.5	0.99943250607066381	0.99848	0.99501	0.96794	D	AEFGBI	0.801412	0.72712	D	0.681461827554251	0.78419	6.867603	0.682061255970301	0.81019	7.429613	0.999999999727043	0.74766	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	4.62	4.62	0.56946	9.697000	0.97946	2.837000	0.35056	0.563000	0.28513	1.000000	0.71638	0.198000	0.23548	0.002000	0.04165	0.0:0.0:1.0:0.0	16.721	0.85270	927	0.17636	GPCR, rhodopsin-like, 7TM;GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	5505.33	174	chr9	122750215	.	G	A	5505.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.66;DP=3082;ExcessHet=0;FS=1.2;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.5;MQRankSum=-2.011;QD=14.26;ReadPosRankSum=-2.188;SOR=0.62	GT:AD:DP:GQ:PL	0/1:187,199:386:99:5519,0,4565	18	0	1	0
chr9	127890812	127890812	C	T	exonic	ST6GALNAC6	.	nonsynonymous SNV	ST6GALNAC6:NM_001287000:exon4:c.G427A:p.E143K,ST6GALNAC6:NM_001287001:exon4:c.G427A:p.E143K,ST6GALNAC6:NM_001287002:exon4:c.G427A:p.E143K,ST6GALNAC6:NM_001286999:exon5:c.G529A:p.E177K,ST6GALNAC6:NM_013443:exon5:c.G529A:p.E177K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00887410427006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	6.84e-07	0	1.376e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.223	0.46910	T	0.236	0.32355	T	0.387	0.34533	B	0.388	0.44086	B	0.000231	0.47286	D	0.245968	1	0.81001	D	1.42	0.35681	L	1.82	0.25018	T	-1.59	0.39119	N	0.563	0.70439	-0.9865	0.33469	T	0.082	0.32178	T	10	0.23160103	0.40137	T	0.008874	0.23390	T	0.132	0.35948	0.499	0.58991	0.37262878642	0.36876	0.693180553437494	0.69258	1.04342931365	0.75877	0.720459878445	0.70114	T	0.059046	0.31008	T	-0.0129965	0.49845	T	-0.256445	0.49178	T	0.899720788002014	0.55207	D	0.974353	0.90870	D	0.17266275	0.37970	0.1839912	0.41424	0.17266275	0.37969	0.1839912	0.41423	-8.04	0.63639	D	.	.	0.231	0.52728	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.289794	0.45108	22.1	0.99846230029536509	0.92576	0.89597	0.50163	D	AEFGBI	0.336909	0.43488	N	0.0674434909399498	0.44948	2.759751	0.162777959102058	0.47823	3.006811	0.999999990375533	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.61	5.61	0.85347	3.617000	0.53923	5.977000	0.52101	0.594000	0.32500	0.992000	0.37556	1.000000	0.68203	0.972000	0.54974	0.0:1.0:0.0:0.0	18.196	0.89756	312	0.87382	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1999.33	33	chr9	127890812	.	C	T	1999.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.83;DP=824;ExcessHet=0;FS=0.539;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.75;ReadPosRankSum=0.363;SOR=0.66	GT:AD:DP:GQ:PL	0/1:99,87:186:99:2013,0,2281	18	0	1	0
chr9	128190801	128190801	-	TGCTGGAGCTGCTGCTGCTGT	exonic	CIZ1	.	nonframeshift insertion	CIZ1:NM_001131015:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ,CIZ1:NM_001131016:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ,CIZ1:NM_001131017:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ,CIZ1:NM_001131018:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ,CIZ1:NM_001257975:exon2:c.146_147insACAGCAGCAGCAGCTCCAGCA:p.Q49_L50insQQQQLQQ,CIZ1:NM_012127:exon2:c.56_57insACAGCAGCAGCAGCTCCAGCA:p.Q19_L20insQQQQLQQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	.	5.758e-06	6.842e-06	5.684e-06	5.834e-06	1.265e-05	2.48e-06	1.79e-06	2e-06	1.32e-06	0	0	0	0	0	0	5.573e-06	1.733e-05	1.265e-05	1.315e-05	1.313e-05	0	2.689e-05	0.0002	2.18e-06	8.2e-07	.	.	2.409e-05	0	0	0	0	0	0	0	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	316.29	35	chr9	128190801	.	C	CTGCTGGAGCTGCTGCTGCTGT	316.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.62;DP=684;ExcessHet=0;FS=3.741;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.18;ReadPosRankSum=0;SOR=1.349	GT:AD:DP:GQ:PL	0/1:15,9:24:99:330,0,578	18	0	1	0
chr9	128634837	128634837	C	T	exonic	DYNC2I2	.	nonsynonymous SNV	DYNC2I2:NM_052844:exon7:c.G1066A:p.G356S	.	415	1082	24	1	0	26	0.0118721	.	.	.	458911	Short-rib_thoracic_dysplasia_11_with_or_without_polydactyly|DYNC2I2-related_disorder|not_provided	MONDO:MONDO:0014287,MedGen:C3810200,OMIM:615633,Orphanet:474,Orphanet:93271|.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.183	0.111733181486	0.0028	0.00339457	0.0044	0.0005	0.0064	0	0.0006	0.0046	0.0050	0.0077	0.0036998	572	154602	rs17849504	0.0029	0.0030	0.0026	0.0033	0.0083	0.0029	0.0028	0.0078	0.0076	0.0004	0.0043	0.0083	5.039e-05	0.0015	0.0080	0.0025	0.0039	0.0083	0.0027	0.0027	0.0027	0.0026	0.0079	0.0024	0.0024	0.0059	0.0052	0.0005	0	0.0020	0.0101	0.0004	0.0019	0.0102	0.0037	0.0024	0.0079	0.164	0.23360	T	0.187	0.28764	T	0.402	0.34891	B	0.119	0.32162	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	1.65	0.27650	T	-2.12	0.48184	N	0.635	0.64818	-1.0853	0.06353	T	0.061	0.25635	T	10	0.014472216	0.00304	T	0.111733	0.78962	D	0.183	0.45592	.	.	0.350524144436	0.34660	0.663641422864043	0.66301	0.353134030552	0.37127	0.622149705887	0.56032	T	0.057986	0.30717	T	-0.169954	0.25242	T	-0.012058	0.69550	D	0.0169857053249468	0.00448	T	0.785321	0.42297	T	0.29473332	0.52428	0.22070257	0.46855	0.29473332	0.52428	0.22070257	0.46854	-6.276	0.48532	T	.	.	0.150	0.33203	B	.	.	3.101871	0.41810	21.4	0.99747808364856505	0.84002	0.95916	0.66708	D	AEFDGBCI	0.831345	0.74990	D	0.0751261407202568	0.45305	2.789209	0.149914993195619	0.47136	2.948535	1.0	0.98316	0.722319	0.85440	0	0.702456	0.74545	0	0.698795	0.65105	0	0.735409	0.98432	0	.	.	5.24	5.24	0.72863	5.642000	0.67561	7.528000	0.59870	0.524000	0.24156	1.000000	0.71638	1.000000	0.68203	0.137000	0.19835	0.0:1.0:0.0:0.0	17.824	0.88570	389	0.83303	.	.	.	.	.	.	Likely benign	0	0	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	0.010070	0.000000	0.009537	0.002924	0.000000	0.000000	0.009146	0.026515	0.05263	3113.83	33	chr9	128634837	.	C	T	3113.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.857;DP=893;ExcessHet=0.119;FS=0.905;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.08;ReadPosRankSum=-0.52;SOR=0.632	GT:AD:DP:GQ:PL	0/1:79,52:131:99:1232,0,2055	17	0	2	0
chr9	128714590	128714590	G	A	exonic	PKN3	.	nonsynonymous SNV	PKN3:NM_001317926:exon12:c.G1510A:p.G504S,PKN3:NM_013355:exon12:c.G1510A:p.G504S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00717200934169	7.7e-05	.	8.292e-06	0	0	0	0	1.51e-05	0	0	6.5e-06	1	154602	rs147486451	1.626e-05	2.413e-05	8.718e-06	2.354e-05	2.015e-05	1.04e-05	8.38e-06	1.227e-05	1.003e-05	0	0	0	0	0	0	2.015e-05	3.957e-05	0	6.576e-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	0.53	0.07025	T	0.532	0.10034	T	0.02	0.18235	B	0.024	0.20255	B	.	.	.	.	1	0.08975	N	1.59	0.40313	L	1.61	0.28391	T	0.11	0.05706	N	0.243	0.27435	-0.9873	0.33273	T	0.037	0.15856	T	9	0.05372131	0.05609	T	0.007172	0.19006	T	0.021	0.04004	.	.	0.193865811164	0.18958	0.2653753530927664	0.26450	0.336977223862	0.35698	0.23176792264	0.02101	T	0.110347	0.42496	T	-0.336551	0.05630	T	-0.657563	0.08432	T	0.0169832097093445	0.00448	T	0.640736	0.25328	T	0.01795853	0.00319	0.03346386	0.02245	0.01795853	0.00319	0.03346386	0.02245	-3.275	0.13417	T	.	.	0.083	0.09336	B	.	.	0.751744	0.11215	7.847	0.72897294782074573	0.10135	0.52116	0.29055	D	AEFDGBI	0.085758	0.17387	N	-0.825941004341009	0.12649	0.6179337	-0.772302293976513	0.15175	0.7967977	0.853933691830853	0.25096	0.706548	0.73137	0	0.694456	0.67091	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.91	0.612	0.16768	0.044000	0.13876	1.147000	0.24451	0.676000	0.76740	0.000000	0.06391	0.001000	0.17328	0.328000	0.25156	0.1772:0.3417:0.4811:0.0	5.368	0.15425	0	0.99858	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	1115.33	36	chr9	128714590	.	G	A	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.87;DP=712;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.12;ReadPosRankSum=0.471;SOR=0.642	GT:AD:DP:GQ:PL	0/1:41,44:85:99:1129,0,1026	18	0	1	0
chr9	128721783	128721783	C	T	exonic	ZDHHC12	.	nonsynonymous SNV	ZDHHC12:NM_001318015:exon4:c.G515A:p.R172H,ZDHHC12:NM_001318016:exon4:c.G350A:p.R117H,ZDHHC12:NM_001318020:exon4:c.G350A:p.R117H,ZDHHC12:NM_001318023:exon4:c.G347A:p.R116H,ZDHHC12:NM_032799:exon4:c.G350A:p.R117H	.	430	1090	2	0	0	2	0.00091659	.	.	.	2239316	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.053	0.00423443741375	0.0004	.	0.0004	9.756e-05	0.0003	0	0	0.0007	0.0011	0	0.0004075	63	154602	rs146354591	0.0003	0.0003	0.0003	0.0003	0.0019	0.0003	0.0002	0.0011	0.0008	8.961e-05	0.0003	0.0038	5.038e-05	0	0.0019	0.0002	0.0004	0	0.0003	0.0003	0.0003	0.0002	0.0007	0.0002	0.0002	0.0004	0.0003	4.811e-05	0	0.0007	0.0029	0	0	0.0068	0.0002	0.0014	0	0.125	0.36509	T	0.141	0.41913	T	0.109	0.26142	B	0.015	0.17295	B	0.044823	0.23598	N	0.453294	0.790549	0.29231	N	1.52	0.38360	L	1.92	0.23082	T	-1.04	0.34198	N	0.246	0.33796	-1.0684	0.09768	T	0.040	0.17319	T	10	0.014626592	0.00307	T	0.004234	0.10216	T	0.053	0.14996	.	.	0.0762999501168	0.06990	0.42142061826271077	0.42058	0.22138815959	0.24677	0.475829809904	0.35483	T	0.005444	0.17609	T	-0.412673	0.01908	T	-0.50661	0.21663	T	0.0419776805748135	0.04050	T	0.931907	0.74605	D	0.09354279	0.21973	0.05158233	0.08329	0.09354279	0.21973	0.05158233	0.08328	-5.389	0.40813	T	.	.	0.087	0.17657	B	.;.;.;.	.;.;.;.	3.103176	0.41828	21.4	0.99937510461061574	0.99661	0.45492	0.27550	N	AEFDBCI	0.272692	0.38827	N	-0.153428428469622	0.35087	2.01107	-0.0275884260023746	0.38475	2.267224	0.99999996385771	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.636168	0.56350	0	.	.	4.78	3.74	0.42108	0.800000	0.26703	2.478000	0.32927	0.599000	0.40250	0.507000	0.27010	0.990000	0.31317	0.995000	0.73285	0.0:0.7029:0.0:0.2971	4.263	0.10201	0	0.99858	Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain;Palmitoyltransferase, DHHC domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001511	0.000000	0.001362	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	680.33	37	chr9	128721783	.	C	T	680.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.302;DP=737;ExcessHet=0;FS=2.555;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.79;ReadPosRankSum=0.088;SOR=0.946	GT:AD:DP:GQ:PL	0/1:22,24:46:99:694,0,618	18	0	1	0
chr9	129040499	129040499	G	T	exonic	MIGA2	.	nonsynonymous SNV	MIGA2:NM_032809:exon2:c.G97T:p.V33L	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000399361	.	.	.	.	.	.	.	.	0.0003493	54	154602	rs193049423	0.0029	0.0028	0.0030	0.0027	0.0039	0.0028	0.0028	0.0032	0.0032	0.0005	0.0015	0.0024	0	0.0008	0.0039	0.0033	0.0031	0.0009	0.0018	0.0018	0.0019	0.0018	0.0030	0.0017	0.0016	0.0026	0.0025	0.0005	0	0.0018	0.0020	0	0.0015	0	0.0030	0.0009	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	34	chr9	129040499	.	G	T	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=786;ExcessHet=0;FS=0.588;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.81;ReadPosRankSum=1.03;SOR=0.786	GT:AD:DP:GQ:PL	0/1:86,76:162:99:1927,0,1989	18	0	1	0
chr9	130354885	130354885	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon32:c.G4987A:p.E1663K	.	432	1075	15	0	0	15	0.00692841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0107	0	0.0154	0	0	0.0204	0.0064	0.0064	0.0022445	347	154602	rs147929126	0.0066	0.0052	0.0064	0.0067	0.0091	0.0064	0.0064	0.0069	0.0061	0.0006	0.0067	0.0468	0	0.0041	0.0091	0.0061	0.0081	0.0064	0.0056	0.0056	0.0057	0.0056	0.0105	0.0053	0.0052	0.0092	0.0087	0.0017	0	0.0105	0.0406	0	0.0031	0.0204	0.0060	0.0047	0.0052	.	.	.	0.33	0.18560	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.19995	.	.	.	.	.	.	.	0.0061682463	0.00139	T	.	.	.	.	.	.	.	0.126345400529	0.12197	0.5057489386732594	0.50496	.	.	.	.	.	0.011027	0.09890	T	-0.481281	0.00727	T	-0.459958	0.26603	T	.	.	.	0.614539	0.23442	T	0.093031876	0.21839	0.25402975	0.51061	0.093031876	0.21839	0.25402975	0.51060	-4.351	0.28886	T	.	.	0.075	0.05579	B	.	.	2.883339	0.38162	20.7	0.99755237795846929	0.84615	0.93249	0.57715	D	AEFDBI	0.496276	0.53129	N	.	.	.	.	.	.	0.0834187431312703	0.15927	0.646311	0.45356	0	0.547309	0.14657	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.26	3.36	0.37579	4.408000	0.59518	4.373000	0.43156	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.897000	0.43391	0.1035:0.0:0.8965:0.0	9.926	0.40661	576	0.70006	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3119.83	37	chr9	130354885	.	G	A	3119.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.213;DP=838;ExcessHet=0.119;FS=0.47;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13;ReadPosRankSum=0.853;SOR=0.655	GT:AD:DP:GQ:PL	0/1:53,53:106:99:1211,0,1253	17	0	2	0
chr9	130410587	130410587	G	A	exonic	HMCN2	.	nonsynonymous SNV	HMCN2:NM_001291815:exon85:c.G12896A:p.R4299Q	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.145	.	.	.	0.0001	0	0	0	0	0	0	0.0003	1.29e-05	2	154602	rs775077922	6.651e-05	6.43e-05	5.645e-05	7.685e-05	0.0009	5.535e-05	5.134e-05	0.0003	0.0002	6.33e-05	2.801e-05	0	0	0	0.0009	4.727e-05	0.0001	0.0004	3.283e-05	3.281e-05	2.57e-05	4.029e-05	0.0006	1.26e-05	7.97e-06	0.0002	9.003e-05	0	0	0	0	0	0	0	2.94e-05	0	0.0006	.	.	.	0.977	0.02440	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.04547	-0.9246	0.44915	T	0.212	0.57281	T	8	0.026502669	0.00815	T	.	.	.	.	.	.	.	0.0401082797425	0.02173	0.11343897901770826	0.11271	.	.	.	.	.	0.001258	0.00742	T	-0.527488	0.00397	T	-0.692347	0.06254	T	0.0209464031812465	0.00795	T	0.193581	0.02086	T	0.06620595	0.14223	0.16463055	0.38127	0.06620595	0.14223	0.16463055	0.38126	-3.496	0.16375	T	.	.	0.051	0.00179	B	.	.	0.266916	0.06449	2.922	0.96613108531452263	0.30452	0.00558	0.02546	N	AEFDGBI	0.037980	0.05306	N	-1.38477358456089	0.02780	0.123252	-1.36167188370077	0.03670	0.1716817	0.999695485391934	0.41870	0.706298	0.61202	0	0.547309	0.14657	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.63	-4.2	0.03562	-0.672000	0.05345	-2.846000	0.03302	-0.527000	0.04968	0.000000	0.06391	0.000000	0.08366	0.961000	0.51904	0.2764:0.0:0.7236:0.0	15.942	0.79551	371	0.84287	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	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1372.33	33	chr9	130410587	.	G	A	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.97;DP=756;ExcessHet=0;FS=0.72;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=0.009;SOR=0.835	GT:AD:DP:GQ:PL	0/1:59,50:109:99:1386,0,1494	18	0	1	0
chr9	131478506	131478506	G	C	exonic	PRRC2B	.	nonsynonymous SNV	PRRC2B:NM_001384823:exon17:c.G2563C:p.G855R,PRRC2B:NM_001384818:exon18:c.G4645C:p.G1549R,PRRC2B:NM_001384821:exon18:c.G4645C:p.G1549R,PRRC2B:NM_001384822:exon18:c.G4645C:p.G1549R,PRRC2B:NM_013318:exon18:c.G4645C:p.G1549R	.	432	1089	1	0	0	1	0.000458926	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	.	0.0002	0.00419329	0.0010	0.0005	0	0.0118	0.0002	0.0002	0.0011	0.0002	0.0010931	169	154602	rs201654931	0.0006	0.0006	0.0006	0.0006	0.0161	0.0006	0.0006	0.0151	0.0147	0.0002	0	0.0010	0.0161	3.746e-05	0.0003	6.387e-05	0.0013	0.0007	0.0007	0.0007	0.0007	0.0007	0.0132	0.0006	0.0005	0.0107	0.0097	0.0004	0	0	0.0017	0.0132	0	0	0.0002	0	0.0010	0.066	0.36113	T	0.579	0.09829	T	0.997	0.70673	D	0.909	0.64565	D	0.026772	0.25864	U	0.180712	1	0.81001	D	2.14	0.59869	M	4.27	0.02513	T	-1.8	0.45949	N	0.319	0.51761	-0.8513	0.51878	T	0.144	0.46678	T	10	0.0068279207	0.00155	T	.	.	.	0.154	0.40340	0.121	0.02793	0.158540857583	0.15491	0.3947180178259431	0.39386	0.597579573787	0.54949	0.501875638962	0.39089	T	0.029098	0.20925	T	-0.467424	0.00882	T	-0.436237	0.29229	T	0.0271859247219928	0.01570	T	0.917108	0.70302	D	0.10066169	0.23771	0.11908732	0.28744	0.10066169	0.23771	0.11908732	0.28744	-3.784	0.27980	T	.	.	0.237	0.47094	B	.;.	.;.	4.336591	0.66495	25.0	0.9991175947735853	0.98095	0.93866	0.59418	D	ALL	0.543410	0.55875	D	0.18636832772727	0.50545	3.243454	0.222443109555185	0.51096	3.295067	0.999999998137408	0.74766	0.77792	0.99625	0	0.697927	0.68747	0	0.854111	0.99894	0	0.741806	0.99463	0	.	.	5.42	5.42	0.78666	4.533000	0.60328	9.864000	0.82078	0.676000	0.76740	0.998000	0.41325	1.000000	0.68203	0.760000	0.36145	0.0:0.0:1.0:0.0	16.374	0.83213	479	0.77495	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	684.33	34	chr9	131478506	.	G	C	684.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.676;DP=719;ExcessHet=0;FS=4.249;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.05;ReadPosRankSum=0.009;SOR=0.358	GT:AD:DP:GQ:PL	0/1:48,37:85:99:698,0,1163	18	0	1	0
chr9	134421677	134421677	C	T	exonic	RXRA	.	nonsynonymous SNV	RXRA:NM_001291921:exon5:c.C491T:p.P164L,RXRA:NM_001291920:exon6:c.C701T:p.P234L,RXRA:NM_002957:exon6:c.C782T:p.P261L	.	427	1094	1	0	0	1	0.00045683	0.0139	0.11	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.290	.	.	0.00299521	0.0009	0	8.708e-05	0.0001	0	4.688e-05	0.0038	0.0095	0.0009767	151	154602	rs2234960	0.0005	0.0005	0.0003	0.0007	0.0074	0.0004	0.0004	0.0069	0.0067	3.065e-05	0	0	2.559e-05	0	0.0004	5.834e-05	0.0003	0.0074	0.0003	0.0003	0.0002	0.0003	0.0072	0.0002	0.0002	0.0054	0.0047	0	0	0	0	0.0002	0	0	4.412e-05	0.0005	0.0072	0.05	0.39575	D	0.116	0.36497	T	0.141	0.27581	B	0.014	0.16862	B	0.000356	0.45440	D	0.229986	1	0.81001	D	1.825	0.47900	L	0.71	0.51228	T	-3.61	0.69477	D	0.416	0.45615	-1.0159	0.25045	T	0.105	0.38562	T	10	0.009608179	0.00216	T	.	.	.	0.290	0.60924	0.104	0.01698	0.889384210098	0.88829	0.7269824113318207	0.72642	1.22001278957	0.81056	0.794239640236	0.81087	T	0.411849	0.76618	T	-0.227628	0.16963	T	-0.0944801	0.63821	T	0.171345764056065	0.18671	T	0.945105	0.79107	D	0.31944543	0.54593	0.20539339	0.44706	0.3289293	0.55383	0.23977481	0.49334	-10.457	0.76600	D	0.12133314221763428	0.11504	0.125	0.26263	B	.	.	4.191399	0.63170	24.5	0.96168104791119069	0.28920	0.94997	0.63064	D	AEFDGBHCI	0.937287	0.93485	D	-0.211744992828363	0.32652	1.84371	-0.0944927031133889	0.35618	2.062782	0.999999999997299	0.74766	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.711	0.71501	0	.	.	4.51	4.51	0.54589	7.548000	0.81103	7.424000	0.58739	0.548000	0.25860	1.000000	0.71638	1.000000	0.68203	0.139000	0.19909	0.0:1.0:0.0:0.0	17.258	0.86948	784	0.47045	Nuclear hormone receptor, ligand-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	2368.33	37	chr9	134421677	.	C	T	2368.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.24;DP=879;ExcessHet=0;FS=1.013;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.21;ReadPosRankSum=-0.873;SOR=0.79	GT:AD:DP:GQ:PL	0/1:125,107:232:99:2382,0,2839	18	0	1	0
chr9	135786258	135786258	G	T	exonic	KCNT1	.	nonsynonymous SNV	KCNT1:NM_001272003:exon28:c.G3104T:p.G1035V,KCNT1:NM_020822:exon29:c.G3239T:p.G1080V	Epilepsy, nocturnal frontal lobe, 5, Autosomal dominant;Epileptic encephalopathy, early infantile, 14, Autosomal dominant	10	1509	3	0	0	3	0.000993049	.	.	.	370704	Developmental_and_epileptic_encephalopathy,_14|Autosomal_dominant_nocturnal_frontal_lobe_epilepsy_5|Inborn_genetic_diseases|not_provided|not_specified|KCNT1-related_disorder	MONDO:MONDO:0013989,MedGen:C3554195,OMIM:614959,Orphanet:293181|MONDO:MONDO:0014002,MedGen:C3554306,OMIM:615005,Orphanet:98784|MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MedGen:CN169374|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.045	0.206949269012	0.0016	0.000199681	0.0022	0.0005	0.0001	0	0.0002	0.0034	0.0015	0.0016	0.0017464	270	154602	rs200250181	0.0026	0.0026	0.0027	0.0025	0.0031	0.0025	0.0025	0.0030	0.0029	0.0004	0.0003	0.0033	0	0.0005	0.0012	0.0031	0.0019	0.0016	0.0015	0.0015	0.0018	0.0013	0.0025	0.0014	0.0013	0.0022	0.0021	0.0005	0	0.0007	0.0040	0	0.0008	0	0.0025	0.0009	0.0004	0.01	0.56456	D	0.327	0.21343	T	.	.	.	.	.	.	0.182232	0.17071	U	0.622383	0.999507	0.22137	N	1.245	0.31408	L	1.82	0.25018	T	-2.47	0.53898	N	0.199	0.35620	-1.0188	0.24106	T	0.023	0.09741	T	10	0.0059975684	0.00135	T	0.206949	0.87067	D	0.045	0.12272	.	.	0.345632371893	0.34166	0.4864247483336566	0.48562	0.111451014864	0.12582	0.438605725765	0.30387	T	0.058305	0.30805	T	-0.431135	0.01459	T	-0.394493	0.34026	T	0.0311117385439214	0.02164	T	0.906109	0.66926	D	0.11251886	0.26582	0.15248744	0.35874	0.21999258	0.44544	0.12053789	0.29088	-5.665	0.44092	T	0.10455608797968416	0.08193	0.081	0.15654	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	1.984852	0.25217	16.68	0.60217766006453999	0.06410	0.72078	0.35294	D	AEFDBHI	0.397806	0.47373	N	-0.923426679543321	0.10295	0.4913135	-0.885766601434569	0.12430	0.6393792	0.492484821845352	0.20875	0.001892	0.00033	3	0.547309	0.14657	0	0.505578	0.09266	0	0.562822	0.20929	0	.	.	4.85	0.834	0.18015	1.551000	0.35841	3.314000	0.37488	0.672000	0.70159	0.911000	0.31706	1.000000	0.68203	0.005000	0.06747	0.2422:0.1506:0.4665:0.1407	1.633	0.02571	536	0.73233	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	882.33	33	chr9	135786258	.	G	T	882.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.773;DP=716;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.37;ReadPosRankSum=-1.097;SOR=0.763	GT:AD:DP:GQ:PL	0/1:28,38:66:99:896,0,639	18	0	1	0
chr9	137051225	137051225	C	T	exonic	ENTPD2	.	nonsynonymous SNV	ENTPD2:NM_001246:exon4:c.G532A:p.E178K,ENTPD2:NM_203468:exon4:c.G532A:p.E178K	.	432	1084	6	0	0	6	0.00275989	.	.	.	2823667	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.219	0.045190224002	0.0062	0.00119808	0.0055	0.0016	0.0023	0	0.0023	0.0088	0.0022	0.0013	0.0054268	839	154602	rs76730730	0.0075	0.0075	0.0077	0.0074	0.0093	0.0074	0.0074	0.0091	0.0090	0.0012	0.0026	0.0003	0	0.0025	0.0003	0.0093	0.0054	0.0010	0.0046	0.0046	0.0052	0.0040	0.0081	0.0043	0.0042	0.0075	0.0073	0.0016	0.0022	0.0041	0	0	0.0015	0	0.0081	0.0019	0.0008	0.091	0.37536	T	0.173	0.30143	T	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999969	0.52935	D	2.195	0.61839	M	2.83	0.10771	T	-2.72	0.57920	D	0.634	0.64733	-1.1563	0.00850	T	0.054	0.22959	T	10	0.012442589	0.00267	T	0.04519	0.61857	D	0.219	0.51417	.	.	0.718346079901	0.71586	0.8736257368295273	0.87328	0.369265190435	0.38454	0.71075373888	0.68702	T	0.112339	0.42853	T	-0.372401	0.03474	T	-0.297317	0.45008	T	0.0218495455353041	0.00892	T	0.940673	0.77758	D	0.8140864	0.84824	0.6734924	0.80834	0.8140864	0.84825	0.6734924	0.80835	-9.524	0.71008	D	.	.	0.394	0.66450	A	.;.	.;.	5.359213	0.89882	31	0.99901336912038574	0.97275	0.96422	0.69061	D	AEFDGBHCI	0.744647	0.68757	D	0.628725256775922	0.74999	6.22901	0.592900224758422	0.74429	6.135661	0.99999923184933	0.74766	0.676563	0.55306	0	0.844039	0.99811	0	0.673471	0.61138	0	0.562822	0.20929	0	.	.	4.51	4.51	0.54589	4.841000	0.62523	7.528000	0.59870	0.589000	0.31548	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:1.0:0.0:0.0	16.360	0.83096	.	.	.;.	.	.	.	.	.	Likely benign	0	0	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	0.001511	0.000000	0.001359	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1160.33	35	chr9	137051225	.	C	T	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.641;DP=789;ExcessHet=0;FS=1.484;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.92;ReadPosRankSum=0.694;SOR=0.63	GT:AD:DP:GQ:PL	0/1:68,49:117:99:1174,0,1802	18	0	1	0
chr9	138023729	138023729	A	0	exonic	CACNA1B	.	.	.	.	350	755	29	2	386	419	0.0213869	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	572.82	69	chr9	138023729	.	A	*	572.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.352;DP=868;ExcessHet=2.0135;FS=4.594;InbreedingCoeff=-0.1875;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=1.47;ReadPosRankSum=-1.176;SOR=0.925	GT:AD:DP:GQ:PL	0/1:42,39:81:99:1473,0,1619	14	0	5	0
chr10	825249	825249	T	C	exonic	LARP4B	.	nonsynonymous SNV	LARP4B:NM_001351277:exon13:c.A1300G:p.S434G,LARP4B:NM_015155:exon13:c.A1300G:p.S434G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00390173934956	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.259	0.16628	T	0.094	0.39645	T	0.034	0.20480	B	0.012	0.16012	B	0.000000	0.84330	D	0.124272	0.999909	0.50806	D	1.83	0.48079	L	1.42	0.33189	T	-1.32	0.32991	N	0.378	0.42149	-1.0760	0.08144	T	0.048	0.20553	T	10	0.09752631	0.17572	T	0.003902	0.09180	T	0.023	0.04649	0.235	0.16457	0.189391138174	0.18552	0.5409899109821052	0.54023	0.296725836107	0.32059	0.615102767944	0.55037	T	0.072244	0.34406	T	-0.147588	0.28690	T	-0.449777	0.27720	T	0.606496572494507	0.36659	D	0.835216	0.50504	T	0.1529754	0.34699	0.12790082	0.30779	0.1529754	0.34699	0.12790082	0.30779	-5.445	0.41350	T	.	.	0.098	0.19679	B	.;.	.;.	3.996231	0.58848	24.0	0.98635954636874601	0.43987	0.96367	0.68792	D	AEFDBI	0.396291	0.47282	N	-0.0822847856859552	0.38168	2.231465	0.131294021325016	0.46157	2.866445	0.999198281609489	0.38711	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.57	5.57	0.84021	5.068000	0.64193	7.942000	0.75525	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0743:0.0:0.9257	10.134	0.41870	884	0.28482	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	3198.86	113	chr10	825249	.	T	C	3198.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.463;DP=2358;ExcessHet=31.086;FS=172.694;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.83;SOR=12.863	GT:AD:DP:GQ:PL	0/1:111,25:136:43:43,0,2233	2	0	17	0
chr10	11755609	11755609	G	A	splicing	ECHDC3	NM_024693:exon4:c.591+1G>A	.	.	.	412	1103	7	0	0	7	0.00316313	1.0000	0.89	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000798722	0.0006	0	0	0	0	0.0002	0	0.0030	0.0004592	71	154602	rs200347426	0.0003	0.0003	0.0002	0.0004	0.0030	0.0002	0.0002	0.0027	0.0026	0	0	0.0002	0	0	0.0014	7.564e-05	0.0005	0.0030	0.0002	0.0002	0.0001	0.0002	0.0021	0.0001	9.232e-05	0.0011	0.0009	4.811e-05	0	6.535e-05	0	0	0	0.0034	0.0001	0.0005	0.0021	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.150078	0.28300	T	0.00765586	0.70832	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.	.;.	5.531004	0.91870	32	0.97653805563648588	0.35155	0.93494	0.58370	D	AEFDBHCI	.	.	.	0.889784818367901	0.91249	10.790	0.720016191639193	0.83901	8.144262	0.999956599794708	0.48110	0.162113	0.03585	0	0.18701	0.04157	0	0.175069	0.04249	0	0.24566	0.04862	0	0.850128	0.51682	5.31	4.39	0.52211	9.724000	0.98010	9.909000	0.82412	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.858000	0.40661	0.0:0.1438:0.8562:0.0	14.952	0.70730	934	0.15400	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	704.33	74	chr10	11755609	.	G	A	704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.127;DP=1193;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.39;ReadPosRankSum=0.829;SOR=0.776	GT:AD:DP:GQ:PL	0/1:44,31:75:99:718,0,1116	18	0	1	0
chr10	14908583	14908583	-	T	exonic	DCLRE1C	.	frameshift insertion	DCLRE1C:NM_001289076:exon12:c.1558dupA:p.S520Kfs*6,DCLRE1C:NM_001289078:exon12:c.1558dupA:p.S520Kfs*6,DCLRE1C:NM_022487:exon13:c.1558dupA:p.S520Kfs*6,DCLRE1C:NM_001033855:exon14:c.1903dupA:p.S635Kfs*6,DCLRE1C:NM_001033857:exon15:c.1543dupA:p.S515Kfs*6,DCLRE1C:NM_001289077:exon15:c.1543dupA:p.S515Kfs*6,DCLRE1C:NM_001033858:exon16:c.1543dupA:p.S515Kfs*6,DCLRE1C:NM_001289079:exon16:c.1543dupA:p.S515Kfs*6	Omenn syndrome, Autosomal recessive;Severe combined immunodeficiency, Athabascan type, Autosomal recessive	0	1515	7	0	0	7	0.00230491	.	.	.	460187	Severe_combined_immunodeficiency_due_to_DCLRE1C_deficiency|Histiocytic_medullary_reticulosis|not_specified|not_provided	MONDO:MONDO:0011225,MedGen:C1865370,OMIM:602450,Orphanet:275|MONDO:MONDO:0011338,MedGen:C2700553,OMIM:603554,Orphanet:39041|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	.	.	0.0002	.	0.0004	9.634e-05	8.639e-05	0	0	0.0004	0.0011	0.0010	0.000304	47	154602	rs772947736	0.0002	0.0002	0.0002	0.0003	0.0029	0.0002	0.0002	0.0019	0.0015	2.987e-05	0.0002	0.0017	0	0	0.0029	0.0001	0.0008	0.0011	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0004	0.0003	2.407e-05	0	0.0003	0.0017	0	0	0.0034	0.0003	0.0009	0.0010	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001007	0.000000	0.000000	0.000000	0.000000	0.008621	0.003049	0.000000	0.02632	4605.29	43	chr10	14908583	.	C	CT	4605.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.47;DP=1145;ExcessHet=0;FS=2.126;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.84;ReadPosRankSum=-0.806;SOR=0.593	GT:AD:DP:GQ:PL	0/1:202,187:389:99:4619,0,5090	18	0	1	0
chr10	15833683	15833683	G	A	exonic	MINDY3	.	nonsynonymous SNV	MINDY3:NM_001318330:exon7:c.C158T:p.T53M,MINDY3:NM_024948:exon8:c.C677T:p.T226M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.455	0.09453396335	.	0.000399361	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs201352822	2.675e-05	2.736e-05	3.278e-05	2.067e-05	0.0005	2.003e-05	1.759e-05	0.0004	0.0003	5.995e-05	8.954e-05	0	0.0005	0	0	4.51e-06	3.32e-05	5.814e-05	5.259e-05	5.251e-05	3.858e-05	6.724e-05	0.0004	2.558e-05	1.831e-05	6.823e-05	2.855e-05	2.408e-05	0	0.0002	0	0.0004	0	0	1.471e-05	0	0.0002	0.001	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	N	0.043653	1	0.81001	D	.	.	.	1.19	0.37578	T	-4.97	0.83830	D	0.928	0.93252	-0.5057	0.68443	T	0.250	0.61969	T	10	0.6747147	0.70922	D	0.094534	0.76270	D	0.455	0.75415	.	.	0.257342827899	0.25358	0.7892098188687574	0.78872	0.600846760602	0.55152	0.835624277592	0.87426	D	0.366114	0.73142	T	-0.049864	0.44470	T	-0.0837008	0.64632	T	0.920954167842865	0.58037	D	0.914409	0.69449	D	0.62232244	0.73888	0.565358	0.74843	0.62232244	0.73889	0.565358	0.74844	-9.034	0.67916	D	.	.	0.320	0.54485	B	.;.;.	.;.;.	5.131401	0.85875	28.7	0.99898009000469157	0.97048	0.98891	0.88239	D	AEFBI	0.883070	0.81170	D	0.822606919197889	0.87498	9.238848	0.772879241718233	0.87852	9.367927	0.989382768283902	0.31809	0.706298	0.61202	0	0.708844	0.79440	0	0.653264	0.51672	0	0.613276	0.41899	0	.	.	5.74	4.84	0.62125	9.211000	0.94222	3.958000	0.40726	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0694:0.0:0.9306:0.0	14.754	0.69169	832	0.38914	Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205;Domain of unknown function DUF4205|Domain of unknown function DUF4205	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	653.33	34	chr10	15833683	.	G	A	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.205;DP=664;ExcessHet=0;FS=2.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.52;ReadPosRankSum=1.07;SOR=0.324	GT:AD:DP:GQ:PL	0/1:19,26:45:99:667,0,527	18	0	1	0
chr10	18140803	18140803	A	G	exonic	CACNB2	.	nonsynonymous SNV	CACNB2:NM_201593:exon1:c.A67G:p.M23V,CACNB2:NM_201596:exon1:c.A67G:p.M23V,CACNB2:NM_201597:exon1:c.A67G:p.M23V	Brugada syndrome 4	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.755736658304	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.377e-06	1.368e-06	0	2.772e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	9.018e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.65419	D	0.277	0.24193	T	0.004	0.12183	B	0.001	0.10090	B	.	.	.	.	0.997208	0.22752	N	0.805	0.20218	L	-1.65	0.83157	D	-0.98	0.25986	N	0.432	0.61002	-0.5433	0.67039	T	0.336	0.70248	T	9	0.2950001	0.47070	T	0.755737	0.98057	D	0.252	0.56159	0.333	0.32005	0.784929984649	0.78294	0.39942202417516115	0.39857	0.20667042463	0.23098	0.865435421467	0.91909	D	0.115636	0.43438	T	0.0187113	0.54208	T	-0.210899	0.53610	T	0.141916709966555	0.16439	T	0.681532	0.29028	T	0.25417212	0.48444	0.32400706	0.58328	0.25417212	0.48444	0.32400706	0.58327	-2.343	0.05358	T	.	.	0.103	0.27613	B	.;.;.	.;.;.	3.694875	0.52664	23.3	0.94334188462853041	0.24670	0.59728	0.30996	D	AEFDBHCIJ	0.156129	0.28144	N	-0.490436610506751	0.22394	1.195432	-0.436166744353558	0.23945	1.308473	0.999985635666456	0.51787	0.59774	0.34471	0	0.563428	0.19063	0	0.666236	0.60216	0	0.63947	0.58350	0	.	.	2.97	2.97	0.33479	1.658000	0.36992	6.834000	0.56699	0.557000	0.28285	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	1.0:0.0:0.0:0.0	7.372	0.25982	934	0.15400	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1232.33	33	chr10	18140803	.	A	G	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.41;DP=775;ExcessHet=0;FS=4.228;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.34;ReadPosRankSum=1.1;SOR=1.101	GT:AD:DP:GQ:PL	0/1:76,56:132:99:1246,0,1628	18	0	1	0
chr10	25412396	25412396	A	G	exonic	GPR158	.	nonsynonymous SNV	GPR158:NM_020752:exon4:c.A1258G:p.I420V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.171	0.00580834291211	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1399001129	2.053e-06	1.026e-05	2.724e-06	1.376e-06	2.236e-05	5.5e-07	1.5e-07	3e-07	1.1e-07	0	2.236e-05	0	0	0	0	1.8e-06	0	0	6.57e-06	6.567e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.92	0.02309	T	1.0	0.01155	T	0.008	0.14655	B	0.009	0.14300	B	0.000003	0.62929	D	0.000000	0.999426	0.47006	D	0.6	0.15550	N	0.18	0.60361	T	0.44	0.03243	N	0.27	0.30574	-0.9792	0.35186	T	0.087	0.33662	T	10	0.1521804	0.28750	T	0.005808	0.15101	T	0.171	0.43483	0.448	0.50793	0.161926535498	0.15789	0.3829631867473734	0.38211	0.0840598745579	0.09481	0.538012385368	0.44165	T	0.017669	0.14377	T	-0.0274371	0.47788	T	-0.277188	0.47092	T	0.737176895141602	0.42586	D	0.822218	0.48193	T	0.105158724	0.24861	0.12171046	0.29365	0.105158724	0.24861	0.12171046	0.29364	-5.917	0.45579	T	.	.	0.067	0.04932	B	.;.	.;.	2.077376	0.26423	17.11	0.68464587669978927	0.08666	0.88581	0.48576	D	AEFI	0.384824	0.46580	N	-0.305378770948769	0.28943	1.600737	-0.0121809945739852	0.39164	2.317966	0.184655415091531	0.17919	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	6.16	6.16	0.99302	4.720000	0.61636	9.251000	0.79490	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	1.0:0.0:0.0:0.0	16.806	0.85530	832	0.38914	.;GPCR family 3, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	493.79	37	chr10	25412396	.	A	G	493.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.433;DP=1099;ExcessHet=0.3672;FS=177.802;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=1.3;ReadPosRankSum=0.806;SOR=9.507	GT:AD:DP:GQ:PL	0/1:108,31:139:99:297,0,2320	16	0	3	0
chr10	27040008	27040008	C	G	exonic	ANKRD26	.	nonsynonymous SNV	ANKRD26:NM_001256053:exon21:c.G2329C:p.E777Q,ANKRD26:NM_014915:exon21:c.G2332C:p.E778Q	Thrombocytopenia 2, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	429057	not_provided|Thrombocytopenia_2|not_specified	MedGen:C3661900|MONDO:MONDO:0008555,MedGen:C1861185,OMIM:188000,Orphanet:268322|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.143	0.00804337735528	0.0031	0.000998403	0.0024	0.0009	0.0002	0	0.0032	0.0038	0.0011	0.0004	0.0024709	382	154602	rs139949439	0.0033	0.0033	0.0033	0.0033	0.0039	0.0032	0.0032	0.0038	0.0037	0.0003	0.0003	0.0034	0	0.0039	0.0012	0.0039	0.0025	0.0004	0.0024	0.0024	0.0025	0.0023	0.0040	0.0022	0.0021	0.0036	0.0034	0.0007	0	0.0003	0.0043	0	0.0038	0.0034	0.0040	0.0014	0.0004	0.011	0.57480	D	0.016	0.60972	D	.	.	.	.	.	.	0.001626	0.38439	N	0.107097	0.742407	0.33837	D	.	.	.	2.05	0.20664	T	-2.33	0.51646	N	0.22	0.24634	-0.8159	0.54189	T	0.093	0.35363	T	10	0.009538174	0.00215	T	0.008043	0.21316	T	0.143	0.38195	.	.	0.191931220699	0.18833	0.021920457238004763	0.02144	0.321927182123	0.34392	0.471723377705	0.34917	T	.	.	.	-0.529621	0.00386	T	-0.532725	0.19015	T	0.0117877763103769	0.00182	T	0.757524	0.40183	T	0.23643762	0.46494	0.12840404	0.30892	0.2508831	0.48093	0.20584676	0.44771	-8.362	0.63512	D	.	.	0.184	0.44961	B	.;.	.;.	4.127530	0.61742	24.4	0.99633567398057377	0.76203	0.87344	0.46855	D	AEFBI	0.215577	0.34092	N	0.350702770356115	0.58776	4.052094	0.226348051063712	0.51313	3.315016	7.51589156617231E-4	0.07758	0.651	0.46895	0	0.708844	0.79440	0	0.653264	0.51672	0	0.683762	0.67416	0	.	.	5.18	3.32	0.37134	3.955000	0.56422	0.778000	0.21455	0.541000	0.25215	1.000000	0.71638	0.003000	0.18671	0.998000	0.85391	0.0:0.8287:0.0:0.1713	9.765	0.39722	690	0.58899	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	754.33	34	chr10	27040008	.	C	G	754.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.388;DP=693;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=0.542;SOR=0.678	GT:AD:DP:GQ:PL	0/1:40,35:75:99:768,0,890	18	0	1	0
chr10	27204498	27204498	T	C	exonic	ACBD5	.	nonsynonymous SNV	ACBD5:NM_001301254:exon9:c.A976G:p.I326V,ACBD5:NM_001301252:exon10:c.A1180G:p.I394V,ACBD5:NM_001352587:exon10:c.A1297G:p.I433V,ACBD5:NM_001271512:exon11:c.A1501G:p.I501V,ACBD5:NM_001301251:exon11:c.A1180G:p.I394V,ACBD5:NM_001301253:exon11:c.A1180G:p.I394V,ACBD5:NM_001352582:exon11:c.A1198G:p.I400V,ACBD5:NM_001352583:exon11:c.A1180G:p.I394V,ACBD5:NM_001352584:exon11:c.A1180G:p.I394V,ACBD5:NM_001352586:exon11:c.A1330G:p.I444V,ACBD5:NM_001352588:exon11:c.A1303G:p.I435V,ACBD5:NM_001042473:exon12:c.A1402G:p.I468V,ACBD5:NM_001352570:exon12:c.A1507G:p.I503V,ACBD5:NM_001352571:exon12:c.A1534G:p.I512V,ACBD5:NM_001352572:exon12:c.A1528G:p.I510V,ACBD5:NM_001352577:exon12:c.A1402G:p.I468V,ACBD5:NM_001352578:exon12:c.A1402G:p.I468V,ACBD5:NM_001352579:exon12:c.A1402G:p.I468V,ACBD5:NM_001352580:exon12:c.A1348G:p.I450V,ACBD5:NM_001352581:exon12:c.A1336G:p.I446V,ACBD5:NM_001352585:exon12:c.A1213G:p.I405V,ACBD5:NM_145698:exon12:c.A1507G:p.I503V,ACBD5:NM_001352568:exon13:c.A1561G:p.I521V,ACBD5:NM_001352569:exon13:c.A1540G:p.I514V,ACBD5:NM_001352573:exon13:c.A1486G:p.I496V,ACBD5:NM_001352574:exon13:c.A1435G:p.I479V,ACBD5:NM_001352575:exon13:c.A1435G:p.I479V,ACBD5:NM_001352576:exon13:c.A1435G:p.I479V	.	.	.	.	.	.	.	.	.	.	.	1077011	ACBD5-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.011	0.00312484831803	.	.	0.0004	0	0.0045	0	0	0	0	0	0.0003363	52	154602	rs772621096	9.03e-05	9.029e-05	9.393e-05	8.663e-05	0.0029	7.756e-05	7.3e-05	0.0025	0.0023	0	0.0029	0	0	0	0	1.799e-06	3.312e-05	0	7.884e-05	7.88e-05	0.0001	4.034e-05	0.0008	4.496e-05	3.512e-05	0.0005	0.0004	0	0	0.0008	0	0	0	0	0	0	0	0.254	0.17701	T	0.395	0.15255	T	0.783	0.44368	P	0.205	0.37080	B	0.000305	0.45977	N	0.241877	0.570854	0.36749	D	2.06	0.56677	M	2.36	0.34253	T	-0.39	0.14193	N	0.284	0.32148	-1.0522	0.13790	T	0.061	0.25383	T	10	0.009190261	0.00208	T	0.003125	0.06786	T	0.011	0.01250	.	.	0.442775082573	0.43898	0.09757736381252521	0.09688	0.107368357967	0.12116	0.484681159258	0.36702	T	0.014771	0.12515	T	-0.531338	0.00377	T	-0.538112	0.18482	T	0.0452595222798661	0.04650	T	0.850515	0.54589	D	0.03167814	0.03051	0.048455138	0.07201	0.042955823	0.06609	0.042826634	0.05189	-4.152	0.32559	T	0.0921755191099624	0.05928	0.066	0.04198	B	.;.;.;.;.	.;.;.;.;.	1.301724	0.17036	12.92	0.82080041629631928	0.14008	0.36703	0.25594	N	AEFBI	0.108111	0.21518	N	-0.431662278019326	0.24366	1.315145	-0.372333690979298	0.25825	1.422623	0.00693316079243253	0.11345	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.71	2.04	0.25787	0.006000	0.13051	0.452000	0.18532	0.665000	0.62972	0.504000	0.26986	0.999000	0.35428	0.949000	0.49496	0.0:0.3326:0.0:0.6674	9.973	0.40939	784	0.47045	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	68.83	34	chr10	27204498	.	T	C	68.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-3.008;DP=834;ExcessHet=0.119;FS=170.167;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=1.22;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:56,16:72:51:0|1:27204498_T_C:51,0,1670:27204498	17	0	2	0
chr10	27399160	27399160	A	G	exonic	PTCHD3	.	nonsynonymous SNV	PTCHD3:NM_001034842:exon4:c.T1438C:p.S480P	.	426	1091	5	0	0	5	0.00228624	.	.	.	2435505	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.509	0.0950300981948	0.0002	.	0.0003	9.677e-05	0.0009	0	0	0.0003	0	6.064e-05	0.0002975	46	154602	rs199572862	0.0002	0.0002	0.0002	0.0002	0.0026	0.0002	0.0002	0.0016	0.0013	0.0004	0.0006	0	0	0	0.0026	0.0002	0.0002	9.276e-05	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0002	0	0.0001	0	0	0	0	0.0002	0.0010	0	0.052	0.39097	T	0.046	0.49120	D	0.995	0.67487	D	0.926	0.66095	D	0.009896	0.30155	N	0.327917	0.660899	0.30450	N	2.3	0.65703	M	-2.06	0.85875	D	-2.78	0.58896	D	0.383	0.49602	0.301	0.87581	D	0.658	0.88129	D	10	0.28731513	0.46314	T	0.09503	0.76356	D	0.509	0.78910	.	.	0.32980341726	0.32591	.	.	0.456698694381	0.45327	0.351528823376	0.18147	T	0.486186	0.81278	T	-0.218302	0.18224	T	-0.180267	0.56499	T	0.158306524157524	0.17745	T	.	.	.	0.87295717	0.89098	0.80797505	0.88772	0.87295717	0.89099	0.80797505	0.88773	-7.786	0.59602	D	.	.	0.463	0.62854	A	.;.	.;.	2.713334	0.35474	19.91	0.98755915642568248	0.45739	0.73810	0.36103	D	AEFI	0.309251	0.41560	N	-0.0656492539124449	0.38906	2.285984	-0.290765345741203	0.28401	1.583345	2.23117212727007E-4	0.06048	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	3.84	-0.52	0.11340	2.136000	0.41744	1.650000	0.27840	0.587000	0.30956	1.000000	0.71638	0.921000	0.28324	0.419000	0.27206	0.2746:0.7254:0.0:0.0	12.796	0.56942	449	0.79428	Sterol-sensing domain;Sterol-sensing 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	0.004036	0.010101	0.005450	0.002924	0.000000	0.000000	0.003067	0.000000	0.02632	1235.33	88	chr10	27399160	.	A	G	1235.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.299;DP=1703;ExcessHet=0;FS=0.728;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.93;ReadPosRankSum=0.46;SOR=0.565	GT:AD:DP:GQ:PL	0/1:59,54:113:99:1249,0,1398	18	0	1	0
chr10	29490860	29490860	C	T	exonic	SVIL	.	nonsynonymous SNV	SVIL:NM_003174:exon20:c.G2901A:p.M967I,SVIL:NM_001323600:exon21:c.G2997A:p.M999I,SVIL:NM_021738:exon22:c.G4179A:p.M1393I,SVIL:NM_001323599:exon23:c.G3249A:p.M1083I	.	436	991	95	0	0	95	0.045739	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.196	.	.	.	0.0030	0.0008	0.0003	0.0003	0.0025	0.0015	0.0045	0.0140	3.84e-05	1	26028	rs757300194	2.794e-05	0.0018	1.94e-05	3.66e-05	0.0001	2.106e-05	1.854e-05	6.565e-05	4.989e-05	3.027e-05	4.616e-05	0.0001	5.135e-05	0	0	1.92e-05	1.694e-05	0.0001	2.02e-05	0.0009	2.624e-05	1.383e-05	3.009e-05	5.37e-06	2.49e-06	4.99e-06	1.87e-06	0	0	0	0	0	9.783e-05	0	3.009e-05	0	0	0.251	0.26300	T	0.338	0.19188	T	0.001	0.21238	B	0.002	0.16862	B	0.000000	0.84330	D	0.080390	0.999644	0.48019	D	1.275	0.32135	L	2.83	0.10771	T	-2.01	0.47683	N	0.833	0.82862	-0.3829	0.72561	T	0.441	0.77934	T	10	0.01062569	0.00236	T	.	.	.	0.196	0.47777	0.315	0.29096	0.102598925029	0.09809	0.5538617382080628	0.55312	0.32964423376	0.35070	0.654423296452	0.60614	T	0.043114	0.26399	T	-0.123078	0.32621	T	-0.41457	0.31698	T	0.0747122019529343	0.09297	T	0.89841	0.64469	D	0.29034367	0.52024	0.28399682	0.54395	0.29034367	0.52024	0.28399682	0.54394	-10.193	0.75058	D	0.16825139534427275	0.21027	0.460	0.69288	A	.;.;.	.;.;.	3.963416	0.58142	23.9	0.74794420715289511	0.10829	0.96717	0.70563	D	AEFDGBI	0.421191	0.48771	N	-0.482251454692371	0.22663	1.211673	-0.409489271843162	0.24719	1.355184	0.986166000563011	0.31015	0.706298	0.61202	0	0.601575	0.49859	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	3.88	2.98	0.33575	5.584000	0.67185	6.001000	0.52488	0.449000	0.21268	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:0.9105:0.0:0.0895	11.369	0.48927	975	0.05339	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.029412	0.060811	0.016484	0.039474	0.000000	0.052632	0.025926	0.025000	0.05556	75.59	34	chr10	29490860	.	C	T	75.59	.	AC=2;AF=0.056;AN=36;BaseQRankSum=0.766;DP=1348;ExcessHet=0.119;FS=30.261;InbreedingCoeff=-0.0708;MLEAC=2;MLEAF=0.056;MQ=58.45;MQRankSum=-11.02;QD=0.31;ReadPosRankSum=-3.715;SOR=2.54	GT:AD:DP:GQ:PL	0/1:110,13:123:42:42,0,3041	16	0	2	1
chr10	32664064	32664064	T	A	exonic	CCDC7	.	nonsynonymous SNV	CCDC7:NM_001321115:exon22:c.T2025A:p.D675E	.	1295	225	2	0	0	2	0.00442478	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00379393	.	.	.	.	.	.	.	.	0.0012225	189	154602	rs78766756	0.0103	0.0041	0.0103	0.0103	0.0115	0.0100	0.0098	0.0111	0.0109	0.0020	0.0089	0.0093	4.421e-05	0.0189	0.0063	0.0115	0.0084	0	0.0087	0.0087	0.0079	0.0095	0.0112	0.0083	0.0082	0.0106	0.0103	0.0018	0.0439	0.0075	0.0043	0	0.0278	0.0068	0.0112	0.0095	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004268348	0.00085	T	.	.	.	.	.	.	.	.	.	0.001276299474059406	0.00117	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.273273	0.04638	T	0.03778545	0.04910	0.05448561	0.09379	0.03778545	0.04909	0.05448561	0.09379	-0.899	0.00894	T	.	.	0.167	0.36752	B	.	.	-1.480309	0.00307	0.005	0.73325049313239288	0.10287	0.00075	0.00520	N	AEFI	.	.	.	.	.	.	.	.	.	2.07638469947806E-4	0.05948	0.061011	0.01085	0	0.063388	0.01293	0	0.063197	0.01477	0	0.057018	0.00518	0	0.0448725	0.03863	2.23	-4.47	0.03278	-3.556000	0.00482	-20.000000	0.00162	-0.290000	0.06302	0.000000	0.06391	0.000000	0.08366	0.085000	0.17524	0.3572:0.1355:0.0:0.5073	4.474	0.11145	706	0.57215	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	437.33	35	chr10	32664064	.	T	A	437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.01;DP=651;ExcessHet=0;FS=1.098;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.11;ReadPosRankSum=-0.042;SOR=0.892	GT:AD:DP:GQ:PL	0/1:28,20:48:99:451,0,647	18	0	1	0
chr10	49167001	49167001	A	G	exonic	TMEM273	.	nonsynonymous SNV	TMEM273:NM_001010863:exon3:c.T106C:p.Y36H,TMEM273:NM_001288740:exon3:c.T106C:p.Y36H,TMEM273:NM_001288741:exon3:c.T106C:p.Y36H,TMEM273:NM_001288742:exon3:c.T106C:p.Y36H,TMEM273:NM_001288743:exon3:c.T106C:p.Y36H,TMEM273:NM_001353330:exon3:c.T106C:p.Y36H,TMEM273:NM_001353331:exon3:c.T106C:p.Y36H	.	417	1097	8	0	0	8	0.00363306	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.304	0.0214624748489	8e-05	0.00139776	0.0011	0	0	0	0	0.0003	0.0011	0.0066	0.0009767	151	154602	rs199583022	0.0005	0.0005	0.0003	0.0008	0.0062	0.0005	0.0005	0.0058	0.0056	0	6.708e-05	0.0014	0	3.747e-05	0.0014	0.0001	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0079	0.0003	0.0003	0.0059	0.0052	0	0	0	0.0012	0	0	0.0034	0.0002	0	0.0079	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.998	0.88582	D	0.009473	0.30346	N	0.000000	0.671823	0.30357	N	.	.	.	0.11	0.61677	T	-5.0	0.82341	D	0.667	0.80669	-0.4716	0.69669	T	0.290	0.66192	T	10	0.010825038	0.00239	T	0.021462	0.44231	T	0.304	0.62510	.	.	0.564170363345	0.56080	0.227659367843968	0.22680	0.156486346246	0.17663	.	.	.	0.23071	0.59686	T	-0.223307	0.17545	T	-0.0907903	0.64103	T	0.130144280873542	0.15395	T	0.814119	0.47570	T	0.5399818	0.69395	0.6165812	0.77678	0.5399818	0.69396	0.6165812	0.77679	-9.844	0.73256	D	.	.	0.911	0.86137	P	.;.;.;.;.	.;.;.;.;.	3.594779	0.50741	23.0	0.99728549662743327	0.82619	0.89237	0.49581	D	AEFDBCIJ	0.595868	0.59025	D	0.237377923509716	0.53018	3.472727	0.143964371255361	0.46823	2.922082	0.99999999999488	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.615948	0.41167	0	0.586402	0.36253	0	.	.	4.4	4.4	0.52402	3.818000	0.55378	10.702000	0.83594	0.677000	0.82338	0.991000	0.37257	1.000000	0.68203	0.066000	0.16387	1.0:0.0:0.0:0.0	9.948	0.40791	.	.	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002016	0.000000	0.000000	0.005848	0.000000	0.000000	0.000000	0.003788	0.02632	823.33	46	chr10	49167001	.	A	G	823.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.948;DP=747;ExcessHet=0;FS=1.111;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.83;ReadPosRankSum=-0.252;SOR=0.515	GT:AD:DP:GQ:PL	0/1:21,31:52:99:837,0,497	18	0	1	0
chr10	50104143	50104143	G	C	exonic	WASHC2A	.	nonsynonymous SNV	WASHC2A:NM_001005751:exon18:c.G1737C:p.E579D,WASHC2A:NM_001291398:exon18:c.G1737C:p.E579D,WASHC2A:NM_001330102:exon18:c.G1737C:p.E579D	.	.	.	.	.	.	.	.	1.0000	1.0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0028	0.0005	0.0005	0.0006	0.0004	0.0004	0.0005	0.0005	0.0002	2.474e-05	0.0002	7.586e-05	0	0.0005	0.0006	0.0003	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.37966	T	0.221	0.40110	T	0.99	0.68779	D	0.547	0.64423	P	0.000196	0.48115	D	0.177367	0.999984	0.54805	D	.	.	.	.	.	.	-1.59	0.38345	N	0.186	0.31027	-0.6951	0.60670	T	0.262	0.63350	T	9	0.10016841	0.18224	T	0.007039	0.18649	T	0.051	0.14325	0.155	0.05858	0.043077524339	0.03247	0.022149042639061214	0.02166	.	.	0.526520252228	0.42544	T	0.037049	0.24331	T	-0.02398	0.48284	T	-0.272222	0.47596	T	0.870236992835999	0.52015	D	0.754025	0.40374	T	0.065394446	0.13970	0.08041676	0.18189	0.065394446	0.13970	0.08041676	0.18189	-6.64	0.51357	T	.	.	0.173	0.37914	B	.;.;.;.;.	.;.;.;.;.	5.655948	0.92841	33	0.99770114452793413	0.85834	0.83358	0.42481	D	AEFI	0.285651	0.39823	N	0.0769491637248871	0.45389	2.796276	0.0072360960145605	0.40050	2.384071	7.07449565220211E-5	0.04366	0.706548	0.73137	0	0.670034	0.63936	0	0.659464	0.59346	0	0.714379	0.83352	0	.	.	3.2	3.2	0.35826	3.444000	0.52678	8.361000	0.77030	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.939000	0.47918	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.2333	1477.75	133	chr10	50104143	.	G	C	1477.75	.	AC=7;AF=0.233;AN=30;BaseQRankSum=-1.885;DP=1275;ExcessHet=5.3738;FS=165.811;InbreedingCoeff=-0.429;MLEAC=8;MLEAF=0.267;MQ=56.17;MQRankSum=0.546;QD=2.07;ReadPosRankSum=1.01;SOR=10.867	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:62,22:84:99:0|1:50104141_G_C:216,0,1997:50104141	8	0	7	4
chr10	50104144	50104144	G	C	splicing	WASHC2A	NM_001291398:exon18:c.1737+1G>C;NM_001330102:exon18:c.1737+1G>C;NM_001005751:exon18:c.1737+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0025	0.0002	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	9.413e-05	0	0.0001	2.532e-05	1.95e-05	0.0003	0.0003	5.495e-05	6.154e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.00234647	0.51330	T	-0.241147	0.50686	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;.;.	.;.;.;.;.	5.902203	0.94003	33	0.97352760042827002	0.33529	0.93131	0.57407	D	AEFI	.	.	.	0.701995888035694	0.79764	7.146901	0.445472292793738	0.64426	4.697596	7.07449565220211E-5	0.04366	0.164513	0.03853	0	0.195528	0.04277	0	0.078618	0.02440	0	0.221052	0.04502	0	0.694248	0.42717	3.2	3.2	0.35826	5.024000	0.63865	11.562000	0.93235	0.461000	0.21595	1.000000	0.71638	1.000000	0.68203	0.951000	0.49849	0.0:0.0:1.0:0.0	10.264	0.42622	749	0.51929	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1765	1433.55	133	chr10	50104144	.	G	C	1433.55	.	AC=6;AF=0.176;AN=34;BaseQRankSum=-3.127;DP=1257;ExcessHet=5.3738;FS=151.293;InbreedingCoeff=-0.3711;MLEAC=6;MLEAF=0.176;MQ=55.97;MQRankSum=0.546;QD=2.01;ReadPosRankSum=0.853;SOR=10.566	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:61,22:83:99:0|1:50104141_G_C:218,0,1990:50104141	11	0	6	2
chr10	72213285	72213285	C	T	exonic	ASCC1	.	nonsynonymous SNV	ASCC1:NM_001198798:exon2:c.G14A:p.R5H,ASCC1:NM_001198799:exon2:c.G14A:p.R5H,ASCC1:NM_001198800:exon2:c.G14A:p.R5H,ASCC1:NM_001369085:exon2:c.G80A:p.R27H,ASCC1:NM_001369086:exon2:c.G80A:p.R27H,ASCC1:NM_001369087:exon2:c.G14A:p.R5H,ASCC1:NM_001369088:exon2:c.G14A:p.R5H,ASCC1:NM_001369089:exon2:c.G14A:p.R5H,ASCC1:NM_001369090:exon2:c.G14A:p.R5H,ASCC1:NM_001369091:exon2:c.G14A:p.R5H,ASCC1:NM_001369092:exon2:c.G14A:p.R5H,ASCC1:NM_001369093:exon2:c.G14A:p.R5H,ASCC1:NM_001369094:exon2:c.G14A:p.R5H,ASCC1:NM_001369095:exon2:c.G14A:p.R5H,ASCC1:NM_001369096:exon2:c.G14A:p.R5H,ASCC1:NM_001369097:exon2:c.G14A:p.R5H,ASCC1:NM_001369098:exon2:c.G14A:p.R5H,ASCC1:NM_001369099:exon2:c.G80A:p.R27H,ASCC1:NM_001369100:exon2:c.G14A:p.R5H,ASCC1:NM_001369103:exon2:c.G14A:p.R5H,ASCC1:NM_001369104:exon2:c.G14A:p.R5H,ASCC1:NM_001369108:exon2:c.G14A:p.R5H,ASCC1:NM_001369109:exon2:c.G14A:p.R5H,ASCC1:NM_001369110:exon2:c.G14A:p.R5H,ASCC1:NM_001369111:exon2:c.G14A:p.R5H,ASCC1:NM_001369112:exon2:c.G14A:p.R5H	Barrett esophagus/esophageal adenocarcinoma	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.0719611719894	.	.	3.298e-05	0	0	0	0	6e-05	0	0	2.59e-05	4	154602	rs751027189	8.217e-06	9.577e-06	6.814e-06	9.634e-06	0.0002	4.38e-06	3.46e-06	3.1e-06	2.24e-06	0	0	0	2.522e-05	0	0.0002	7.202e-06	3.314e-05	0	6.573e-06	6.567e-06	1.285e-05	0	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.016	0.91255	D	0.043	0.72224	D	1.0	0.90584	D	0.98	0.74843	D	0.000000	0.84330	D	0.000000	0.999713	0.48481	D	2.435	0.70606	M	1.36	0.74371	T	-2.81	0.81350	D	0.709	0.71232	0.170	0.85404	D	0.568	0.84331	D	10	0.49412188	0.61165	T	0.071961	0.71408	D	0.183	0.45592	0.365	0.37199	0.91155186707	0.91066	0.584342477033977	0.58363	0.774521678833	0.64954	0.561922550201	0.47538	T	0.042121	0.45088	T	0.0633551	0.60034	T	0.022357	0.71782	D	0.975217819213867	0.70837	D	0.969903	0.89155	D	0.3248336	0.55044	0.20501535	0.44652	0.3248336	0.55044	0.20501535	0.44651	-9.04	0.67955	D	.	.	0.222	0.66208	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	5.608593	0.92513	32	0.99944703129828949	0.99886	0.89801	0.50504	D	AEFBI	0.760592	0.69856	D	0.72554509600811	0.81309	7.491615	0.702054133888203	0.82533	7.791024	0.99999999843401	0.74766	0.706298	0.61202	0	0.662677	0.63036	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.36	5.36	0.76624	4.559000	0.60505	7.544000	0.60141	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	17.213	0.86818	808	0.43318	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1160.33	35	chr10	72213285	.	C	T	1160.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.823;DP=800;ExcessHet=0;FS=3.942;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.146;SOR=0.402	GT:AD:DP:GQ:PL	0/1:44,49:93:99:1174,0,1060	18	0	1	0
chr10	73746863	73746863	C	T	exonic	SEC24C	.	nonsynonymous SNV	SEC24C:NM_198597:exon2:c.C31T:p.P11S,SEC24C:NM_004922:exon3:c.C31T:p.P11S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0219502256734	7.7e-05	.	6.604e-05	0.0002	0	0	0	0	0.0011	0.0003	5.17e-05	8	154602	rs146510673	1.507e-05	1.505e-05	1.09e-05	1.928e-05	0.0002	9.87e-06	8.43e-06	0.0001	0.0001	0	0	0	2.527e-05	0	0	9.001e-07	3.315e-05	0.0002	1.971e-05	1.97e-05	1.284e-05	2.689e-05	7.234e-05	5.24e-06	2.45e-06	1.918e-05	1.032e-05	7.234e-05	0	0	0	0	0	0	0	0	0	0.203	0.20154	T	0.183	0.29153	T	0.155	0.28155	B	0.127	0.32738	B	0.012270	0.29231	N	0.411905	0.998973	0.81001	D	0.865	0.21413	L	-1.05	0.76690	T	-2.35	0.51968	N	0.203	0.22486	-0.5974	0.64923	T	0.317	0.68682	T	10	0.12895438	0.24534	T	0.02195	0.44785	T	0.156	0.40720	.	.	0.460791969852	0.45704	0.4355990136964781	0.43476	0.0117517464384	0.01108	0.388287931681	0.23428	T	0.198194	0.55510	T	-0.242198	0.15070	T	-0.289485	0.45826	T	0.0537927190608437	0.06154	T	0.742826	0.36203	T	0.15906781	0.35752	0.13984601	0.33353	0.15906781	0.35751	0.13984601	0.33352	-5.03	0.37164	T	.	.	0.069	0.03266	B	.;.	.;.	2.645206	0.34426	19.62	0.98877453700131457	0.47754	0.78169	0.38526	D	AEFDBI	0.204298	0.33075	N	0.0113165832537705	0.42370	2.551553	0.195910777634446	0.49622	3.16322	0.99999282809211	0.74766	0.722319	0.85440	0	0.685571	0.66316	0	0.709663	0.75317	0	0.735409	0.98432	0	.	.	5.85	4.9	0.63643	1.920000	0.39655	4.958000	0.46324	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.0:0.8663:0.1337:0.0	17.629	0.88004	615	0.66512	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1268.33	33	chr10	73746863	.	C	T	1268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.678;DP=733;ExcessHet=0;FS=0.706;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.84;ReadPosRankSum=-0.033;SOR=0.78	GT:AD:DP:GQ:PL	0/1:66,51:117:99:1282,0,1632	18	0	1	0
chr10	73911598	73911598	G	T	exonic	PLAU	.	nonsynonymous SNV	PLAU:NM_002658:exon2:c.G43T:p.V15L	Quebec platelet disorder, Autosomal dominant	1	1409	105	7	0	119	0.0405175	.	.	.	316280	not_provided|Quebec_platelet_disorder	MedGen:C3661900|MONDO:MONDO:0011136,MedGen:C1866423,OMIM:601709,Orphanet:220436	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.102	.	0.0078	0.00738818	0.0115	0.0017	0.0058	0	0.0069	0.0120	0.0154	0.0279	0.010375	1604	154602	rs2227580	0.0087	0.0087	0.0077	0.0097	0.0501	0.0086	0.0085	0.0454	0.0435	0.0019	0.0067	0.0185	0	0.0068	0.0501	0.0073	0.0104	0.0281	0.0076	0.0077	0.0079	0.0074	0.0236	0.0073	0.0071	0.0201	0.0188	0.0019	0	0.0061	0.0181	0	0.0047	0.0578	0.0107	0.0123	0.0236	0.322	0.13479	T	0.0	0.92824	D	.	.	.	.	.	.	0.004663	0.33505	N	0.182175	1	0.23414	N	.	.	.	-2.24	0.87194	D	-0.07	0.08033	N	0.051	0.02272	-0.8534	0.51732	T	0.232	0.59867	T	10	0.0038291514	0.00072	T	.	.	.	0.102	0.29158	0.117	0.02508	.	.	0.5124656367934278	0.51168	0.27678225461	0.30148	0.449435532093	0.31867	T	.	.	.	-0.447549	0.01167	T	-0.396052	0.33845	T	0.00947673903922724	0.00122	T	0.487251	0.14908	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.129	0.27583	B	.;.	.;.	1.692782	0.21567	15.25	0.89963582726528479	0.19259	0.15746	0.19061	N	ALL	0.088594	0.17960	N	-0.679747109664984	0.16599	0.8471829	-0.602636444368169	0.19425	1.042126	0.999999986212794	0.74766	0.789315	0.99827	0	0.552344	0.17405	0	0.768056	0.98339	0	0.56214	0.19341	0	.	.	5.98	2.75	0.31439	0.995000	0.29307	1.024000	0.23428	0.662000	0.56354	0.504000	0.26986	0.441000	0.24904	0.058000	0.15825	0.0:0.2474:0.6074:0.1452	10.072	0.41510	394	0.83065	.;.	MSS51|DUSP8P5|KAT6B	Minor_Salivary_Gland|Testis|Thyroid	.	.	.	Likely benign	0	0	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	0.038771	0.035354	0.040761	0.058480	0.000000	0.025862	0.033537	0.026515	0.05263	3107.83	42	chr10	73911598	.	G	T	3107.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=6.02;DP=877;ExcessHet=0.119;FS=5.871;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=0.716;SOR=1.034	GT:AD:DP:GQ:PL	0/1:70,54:124:99:1368,0,1599	17	0	2	0
chr10	89738611	89738611	C	G	exonic	KIF20B	.	nonsynonymous SNV	KIF20B:NM_001382506:exon19:c.C3557G:p.T1186R,KIF20B:NM_001284259:exon20:c.C3770G:p.T1257R,KIF20B:NM_016195:exon20:c.C3650G:p.T1217R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.0531493065097	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.121	0.35840	T	0.846	0.46778	P	0.387	0.44046	B	0.990300	0.08035	N	0.995188	1	0.08975	N	1.845	0.48678	L	-0.35	0.68616	T	-1.93	0.44852	N	0.182	0.19728	-0.8159	0.54189	T	0.228	0.59321	T	10	0.11608195	0.21888	T	0.053149	0.65352	D	0.186	0.46104	0.098	0.01383	0.517377062552	0.51381	0.36108062739621166	0.36022	0.100780147641	0.11386	0.281747639179	0.07738	T	0.021136	0.16515	T	-0.0953548	0.37191	T	-0.374747	0.36335	T	0.38256973028183	0.28281	T	0.728327	0.34315	T	0.0702547	0.15460	0.10299301	0.24700	0.0702547	0.15459	0.10299301	0.24699	-4.857	0.35814	T	.	.	0.096	0.24666	B	.;.	.;.	1.258617	0.16560	12.62	0.96742424189953036	0.30928	0.09727	0.15418	N	AEFGBI	0.084699	0.17166	N	-0.43496504982171	0.24253	1.308233	-0.528119772854305	0.21391	1.156957	0.999913737919209	0.45857	0.732398	0.92422	0	0.658105	0.61773	0	0.743671	0.96076	0	0.683762	0.67416	0	.	.	5.82	-0.998	0.09690	-0.677000	0.05315	-0.290000	0.10200	0.549000	0.26987	0.004000	0.16614	0.059000	0.21998	0.971000	0.54645	0.0:0.36:0.0:0.64	10.728	0.45279	481	0.77356	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	287.33	22	chr10	89738611	.	C	G	287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.436;DP=647;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.68;ReadPosRankSum=0.178;SOR=0.919	GT:AD:DP:GQ:PL	0/1:12,9:21:99:301,0,373	18	0	1	0
chr10	94357291	94357291	T	C	exonic	NOC3L	.	nonsynonymous SNV	NOC3L:NM_022451:exon4:c.A391G:p.I131V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.061	0.00522081485096	.	.	1.669e-05	0	0	0	0	3.036e-05	0	0	1.29e-05	2	154602	rs748758791	4.821e-06	5.472e-06	5.48e-06	4.155e-06	7.147e-05	2.01e-06	1.29e-06	3.063e-05	2.083e-05	0	0	0	0	0	0	0	1.668e-05	7.147e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	2.94e-05	5.24e-06	2.45e-06	4.88e-06	1.83e-06	2.413e-05	0	0	0	0	0	0	2.94e-05	0	0	1.0	0.00964	T	0.46	0.12597	T	0.013	0.16609	B	0.007	0.12992	B	0.000053	0.53742	D	0.173732	0.888493	0.35900	D	1.655	0.42436	L	2.8	0.11082	T	0.07	0.06138	N	0.321	0.36148	-1.0209	0.23421	T	0.019	0.08079	T	10	0.068308085	0.09642	T	0.005221	0.13310	T	0.061	0.17616	0.305	0.27485	0.220303561663	0.21668	0.053760521104757555	0.05318	0.0644950670279	0.07196	0.546593546867	0.45376	T	0.011966	0.10596	T	-0.377998	0.03207	T	-0.675459	0.07263	T	0.171227559447289	0.18663	T	0.781422	0.41649	T	0.027766254	0.02015	0.047985304	0.07030	0.027766254	0.02015	0.047985304	0.07030	-2.645	0.06853	T	.	.	0.073	0.04764	B	.	.	1.638973	0.20919	14.97	0.93047234379616517	0.22653	0.90175	0.51147	D	AEDGBI	0.279521	0.39355	N	-0.274208709181526	0.30147	1.678316	-0.0659265928633461	0.36808	2.14691	0.998769910276213	0.37623	0.732398	0.92422	0	0.688494	0.66719	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.05	5.05	0.67566	3.611000	0.53881	6.166000	0.54416	-0.110000	0.15115	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	15.092	0.71871	411	0.82069	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	832.33	35	chr10	94357291	.	T	C	832.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.916;DP=711;ExcessHet=0;FS=2.258;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.13;ReadPosRankSum=0.589;SOR=0.446	GT:AD:DP:GQ:PL	0/1:23,32:55:99:846,0,538	18	0	1	0
chr10	101006630	101006630	G	C	exonic	LZTS2	.	nonsynonymous SNV	LZTS2:NM_001318101:exon3:c.G812C:p.R271P,LZTS2:NM_001318099:exon5:c.G1472C:p.R491P,LZTS2:NM_001318100:exon5:c.G1472C:p.R491P,LZTS2:NM_032429:exon5:c.G1472C:p.R491P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.219	0.0241636689935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.46129	D	0.089	0.40426	T	0.637	0.40341	P	0.661	0.52837	P	0.002872	0.35804	N	0.279986	0.995959	0.42940	D	2.28	0.64929	M	0.86	0.46777	T	-3.15	0.64132	D	0.522	0.55540	-0.8016	0.55050	T	0.181	0.52752	T	10	0.49352574	0.61132	T	0.024164	0.47155	T	0.219	0.51417	0.515	0.61459	0.541252434104	0.53778	0.6785592402222832	0.67794	0.630294044216	0.57025	0.768734931946	0.77236	T	0.253592	0.62413	T	0.0336755	0.56213	T	-0.189404	0.55647	T	0.971785962581635	0.69448	D	0.747925	0.36851	T	0.7248602	0.79433	0.5520138	0.74095	0.7248602	0.79435	0.5520138	0.74095	-9.023	0.67845	D	.	.	0.451	0.63324	A	.;.	.;.	4.836379	0.78912	27.0	0.9919358222753053	0.55053	0.68527	0.33836	D	AEFBCIJ	0.656017	0.62815	D	0.167136313076938	0.49627	3.16092	0.164001474008249	0.47887	3.012413	0.999998381761563	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.697927	0.64325	0	0.711	0.71501	0	.	.	5.67	4.76	0.60189	1.799000	0.38459	7.570000	0.60688	0.590000	0.31872	0.625000	0.27956	1.000000	0.68203	0.812000	0.38265	0.1531:0.1641:0.6828:0.0	6.124	0.19387	554	0.71839	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	489.33	33	chr10	101006630	.	G	C	489.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.293;DP=674;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.12;ReadPosRankSum=0.295;SOR=0.693	GT:AD:DP:GQ:PL	0/1:24,20:44:99:503,0,617	18	0	1	0
chr10	102139902	102139902	A	G	exonic	PPRC1	.	nonsynonymous SNV	PPRC1:NM_001288727:exon5:c.A1394G:p.K465R,PPRC1:NM_001288728:exon5:c.A1034G:p.K345R,PPRC1:NM_015062:exon5:c.A1394G:p.K465R	.	415	1104	3	0	0	3	0.00135685	.	.	.	2809565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.057	.	0.0052	0.00279553	0.0063	0.0005	0.0023	0	0.0113	0.0095	0.0088	0.0012	0.0058149	899	154602	rs61756436	0.0053	0.0053	0.0052	0.0054	0.0052	0.0052	0.0052	0.0051	0.0050	0.0005	0.0029	0.0296	0	0.0106	0.0038	0.0052	0.0060	0.0014	0.0058	0.0058	0.0058	0.0059	0.0080	0.0055	0.0054	0.0075	0.0072	0.0005	0.0033	0.0052	0.0366	0	0.0095	0	0.0080	0.0028	0.0012	0.004	0.65419	D	0.51	0.11299	T	0.483	0.36807	P	0.122	0.32387	B	0.112743	0.19344	N	0.555807	0.524757	0.31926	D	1.935	0.51832	L	1.55	0.29866	T	-0.73	0.20791	N	0.266	0.32481	-0.9777	0.35526	T	0.046	0.19599	T	10	0.0038530827	0.00073	T	.	.	.	0.057	0.16321	.	.	0.228066490088	0.22430	0.14898548926819152	0.14820	0.418664140437	0.42450	0.354502290487	0.18583	T	0.025761	0.44249	T	-0.535209	0.00358	T	-0.530536	0.19234	T	0.0282199987662836	0.01721	T	0.765223	0.64303	T	0.047443926	0.08111	0.06065851	0.11588	0.047443926	0.08110	0.06065851	0.11587	-3.832	0.21283	T	.	.	0.102	0.18080	B	.;.	.;.	3.006349	0.40184	21.1	0.99839227255156981	0.91972	0.89366	0.49787	D	AEFBCI	0.144915	0.26799	N	0.107298536175235	0.46803	2.915139	0.257380969972674	0.53071	3.477898	0.998252898129082	0.36648	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	6.03	6.03	0.97798	1.617000	0.36554	4.758000	0.44698	-0.050000	0.17177	0.986000	0.36153	1.000000	0.68203	0.587000	0.31065	1.0:0.0:0.0:0.0	13.944	0.63580	666	0.61362	.;.	.	.	.	.	rs61756436	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.003525	0.000000	0.006793	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1283.33	35	chr10	102139902	.	A	G	1283.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.211;DP=708;ExcessHet=0;FS=3.066;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.11;ReadPosRankSum=0.112;SOR=0.427	GT:AD:DP:GQ:PL	0/1:33,42:75:99:1297,0,958	18	0	1	0
chr10	102451044	102451067	GGCGGCGGCCAGACGCCCTGTTTG	-	exonic	C10orf95	.	nonframeshift deletion	C10orf95:NM_001363580:exon2:c.27_50del:p.K10_P17del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.265e-05	0	0	0	0	2.178e-05	0	0	3.84e-05	1	26028	rs769127436	2.155e-05	2.805e-05	2.252e-05	2.053e-05	0.0002	1.499e-05	1.274e-05	1.324e-05	1.076e-05	3.904e-05	0	0	0	3.048e-05	0.0002	2.027e-05	4.113e-05	2.474e-05	2.628e-05	2.627e-05	5.138e-05	0	5.881e-05	8.14e-06	5.14e-06	1.972e-05	1.125e-05	0	0	0	0	0	0	0	5.881e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1032.29	31	chr10	102451043	.	CGGCGGCGGCCAGACGCCCTGTTTG	C	1032.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.738;DP=714;ExcessHet=0;FS=1.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=24.01;ReadPosRankSum=-0.435;SOR=0.998	GT:AD:DP:GQ:PL	0/1:17,26:43:99:1046,0,625	18	0	1	0
chr10	103458592	103458592	C	T	exonic	CALHM1	.	nonsynonymous SNV	CALHM1:NM_001001412:exon1:c.G160A:p.A54T	.	.	.	.	.	.	.	.	.	.	.	3424423	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00754379677224	0.0002	0.000399361	0.0002	9.748e-05	0.0002	0.0002	0	0.0003	0	0	0.0001552	24	154602	rs140666030	9.442e-05	9.44e-05	0.0001	8.802e-05	0.0002	8.136e-05	7.652e-05	6.784e-05	6.283e-05	2.987e-05	0.0001	0.0008	5.038e-05	0	0.0002	8.183e-05	0.0002	4.637e-05	0.0002	0.0002	0.0001	0.0002	0.0004	0.0001	9.231e-05	0.0001	9.898e-05	0	0	0.0002	0.0012	0.0002	0	0	0.0002	0	0.0004	0.009	0.57480	D	0.05	0.48080	T	0.489	0.36925	P	0.033	0.22329	B	0.025103	0.26146	N	0.452396	1	0.08975	N	0.69	0.16971	N	2.3	0.16953	T	-0.2	0.10136	N	0.102	0.08506	-1.0096	0.27043	T	0.014	0.05753	T	10	0.015043795	0.00316	T	0.007544	0.20006	T	0.028	0.06331	.	.	0.0401082797425	0.02173	0.5772696737336218	0.57655	0.162474102853	0.18328	0.354660302401	0.18606	T	0.019118	0.15291	T	-0.445364	0.01203	T	-0.613082	0.11735	T	0.0203414536268486	0.00734	T	0.680832	0.28956	T	0.046775248	0.07884	0.07383741	0.16088	0.046775248	0.07884	0.07383741	0.16088	-3.774	0.20417	T	0.125773117771601	0.12574	0.101	0.17402	B	.	.	1.755477	0.22329	15.58	0.97003330117518338	0.31953	0.16047	0.19206	N	AEFDBCI	0.083459	0.16908	N	-0.812883290798814	0.12981	0.6363617	-0.816156378132755	0.14104	0.7352377	0.999503334169801	0.40062	0.615755	0.39536	0	0.588066	0.40923	0	0.618376	0.41669	0	0.562822	0.20929	0	.	.	5.56	2.71	0.31092	1.500000	0.35290	0.386000	0.17834	-0.266000	0.06809	0.458000	0.26628	0.000000	0.08366	0.009000	0.08673	0.0:0.4786:0.2913:0.2301	5.534	0.16292	268	0.89479	.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1016.33	34	chr10	103458592	.	C	T	1016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=1715;ExcessHet=0;FS=13.412;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.55;ReadPosRankSum=0.947;SOR=1.17	GT:AD:DP:GQ:PL	0/1:43,38:81:99:1030,0,1011	18	0	1	0
chr10	103627176	103627176	C	T	exonic	SH3PXD2A	.	nonsynonymous SNV	SH3PXD2A:NM_001365079:exon3:c.G274A:p.E92K,SH3PXD2A:NM_014631:exon9:c.G631A:p.E211K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.0378397767145	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1179938628	2.055e-06	2.052e-06	2.727e-06	1.377e-06	0.0002	5.5e-07	1.5e-07	.	.	0	0	0	0	0	0.0002	9.007e-07	0	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.23095	T	0.008	0.67890	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.705	0.18577	N	0.93	0.44065	T	-3.05	0.62976	D	0.814	0.80964	-0.8866	0.49223	T	0.187	0.53722	T	10	0.79042137	0.78611	D	0.03784	0.57860	D	0.342	0.66392	0.53	0.63707	0.57334081109	0.57001	0.6557515014627731	0.65511	1.14165798427	0.78952	0.801444590092	0.82183	T	0.044918	0.26964	T	-0.00795836	0.50551	T	-0.152354	0.59034	T	0.968521773815155	0.68273	D	0.932307	0.95630	D	0.5001987	0.67106	0.40109682	0.64628	0.5001987	0.67107	0.40109682	0.64628	-6.631	0.56117	T	.	.	0.641	0.70552	P	.;.	.;.	5.123554	0.85707	28.7	0.9994017620265192	0.99767	0.91845	0.54387	D	AEFBHCI	0.788340	0.71786	D	0.295981180293545	0.55944	3.758595	0.412248235433343	0.62325	4.446285	0.999999999999969	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.699875	0.68795	0	.	.	5.33	5.33	0.75683	6.124000	0.71349	7.638000	0.63056	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	17.793	0.88471	89	0.96298	SH3 domain|SH3 domain|SH3 domain|SH3PXD2A, SH3 domain 1;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	952.33	33	chr10	103627176	.	C	T	952.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.25;DP=731;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.07;ReadPosRankSum=0.178;SOR=0.558	GT:AD:DP:GQ:PL	0/1:46,40:86:99:966,0,1087	18	0	1	0
chr10	104057122	104057122	C	T	exonic	COL17A1	.	nonsynonymous SNV	COL17A1:NM_000494:exon17:c.G1318A:p.G440S	Epidermolysis bullosa, junctional, localisata variant, Autosomal recessive;Epidermolysis bullosa, junctional, non-Herlitz type, Autosomal recessive;Epithelial recurrent erosion dystrophy, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	865375	Junctional_epidermolysis_bullosa,_non-Herlitz_type	MONDO:MONDO:0009180,MedGen:C0268374,OMIM:226650,Orphanet:251393,Orphanet:79402,Orphanet:79405,Orphanet:89840	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.089	0.0145993442105	0.0002	0.000599042	0.0001	0	0	0.0007	0	0.0001	0	0	0.00011	17	154602	rs139463731	0.0001	0.0001	0.0001	0.0001	0.0004	9.235e-05	8.698e-05	0.0002	0.0002	3.435e-05	0	0.0001	0.0004	0	0.0002	0.0001	0.0002	0	0.0001	0.0001	0.0002	6.959e-05	0.0015	7.851e-05	6.507e-05	0.0008	0.0006	5.519e-05	0	0	0	0.0015	0	0	0.0001	0	0	0.004	0.65419	D	0.033	0.53072	D	0.002	0.16867	B	0.002	0.06944	B	0.938978	0.07582	N	1.039460	1	0.08975	N	0.55	0.14455	N	0.89	0.45636	T	-1.28	0.39503	N	0.228	0.27077	-0.9598	0.39218	T	0.115	0.40853	T	10	0.008690417	0.00197	T	0.014599	0.34823	T	0.089	0.25827	.	.	0.180583059064	0.17676	0.3921376840144152	0.39128	0.0659250797848	0.07352	0.33133020997	0.15136	T	0.31357	0.68531	T	-0.45717	0.01024	T	-0.57446	0.15043	T	0.0462331531334163	0.04826	T	0.381062	0.12628	T	0.046903074	0.07928	0.071208246	0.15221	0.046903074	0.07928	0.071208246	0.15221	-5.81	0.44661	T	.	.	0.093	0.14201	B	.;.;.;.	.;.;.;.	0.250037	0.06296	2.752	0.72383559144225651	0.09954	0.04414	0.10004	N	AEFBCI	0.039817	0.05836	N	-1.52682657942556	0.01675	0.07328486	-1.53931677527008	0.02050	0.0937324	0.995665256709419	0.34254	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	2.45	0.28953	-0.208000	0.09375	0.085000	0.14440	-1.617000	0.00873	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.8659:0.0:0.1341	12.339	0.54411	48	0.97687	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	512.33	65	chr10	104057122	.	C	T	512.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=905;ExcessHet=0;FS=4.035;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=0.989;SOR=1.297	GT:AD:DP:GQ:PL	0/1:29,22:51:99:526,0,654	18	0	1	0
chr10	110799866	110799866	G	A	exonic	RBM20	.	nonsynonymous SNV	RBM20:NM_001134363:exon7:c.G1748A:p.G583D	Cardiomyopathy, dilated, 1DD, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	198203	Cardiomyopathy|Cardiovascular_phenotype|Dilated_cardiomyopathy_1DD|not_provided	Human_Phenotype_Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544,Orphanet:167848|MedGen:CN230736|MONDO:MONDO:0013168,MedGen:C2750995,OMIM:613172,Orphanet:154|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.403	0.0180794661642	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs767827357	2.715e-05	2.599e-05	2.678e-05	2.752e-05	0.0002	2.018e-05	1.767e-05	3.809e-05	2.257e-05	3.165e-05	0.0001	0	0	0	0.0002	2.688e-05	5.16e-05	0	1.971e-05	1.97e-05	3.853e-05	0	4.409e-05	5.24e-06	2.45e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.409e-05	0	0	0.444	0.09155	T	1.0	0.01155	T	.	.	.	.	.	.	0.041758	0.23916	N	0.426761	0.994764	0.42407	D	.	.	.	-1.5	0.81318	D	-2.77	0.58733	D	0.277	0.31365	-0.5822	0.65530	T	0.327	0.69487	T	10	0.18673912	0.34152	T	0.018079	0.40021	T	0.403	0.71636	.	.	0.578489777024	0.57519	0.6028542314243824	0.60216	.	.	0.595799028873	0.52311	T	.	.	.	-0.152634	0.27900	T	-0.220356	0.52704	T	0.26274561882019	0.23434	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.34558	B	.	.	3.019489	0.40410	21.2	0.99023122047209533	0.50634	0.85210	0.44323	D	AEFBI	0.290836	0.40212	N	0.0816006958583592	0.45606	2.814261	0.236832013952499	0.51903	3.369004	0.999998766040178	0.74766	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.19	4.27	0.50009	4.898000	0.62925	9.890000	0.82266	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.2803:0.0:0.7197:0.0	5.512	0.16174	916	0.20744	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1642.33	43	chr10	110799866	.	G	A	1642.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.602;DP=828;ExcessHet=0;FS=3.212;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-1.89;SOR=0.518	GT:AD:DP:GQ:PL	0/1:57,69:126:99:1656,0,1354	18	0	1	0
chr10	114289393	114289393	-	GGAGGCTTG	exonic	VWA2	.	nonframeshift insertion	VWA2:NM_001272046:exon12:c.2026_2027insGGAGGCTTG:p.L678_A679insGRL,VWA2:NM_001320804:exon12:c.2026_2027insGGAGGCTTG:p.L678_A679insGRL	.	431	1085	6	0	0	6	0.00275735	.	.	.	3199472	not_provided|VWA2-related_disorder	MedGen:C3661900|.	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	0.0068	0.00259585	0.0058	0.0011	0.0089	0	0.0006	0.0080	0.0066	0.0025	0.0018442	48	26028	rs553439419	0.0080	0.0080	0.0082	0.0077	0.0093	0.0078	0.0078	0.0090	0.0090	0.0010	0.0093	0.0043	0	0.0009	0.0073	0.0092	0.0089	0.0031	0.0062	0.0062	0.0062	0.0062	0.0111	0.0058	0.0057	0.0097	0.0092	0.0016	0.0066	0.0111	0.0046	0	0.0004	0	0.0095	0.0114	0.0015	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1711.29	33	chr10	114289393	.	C	CGGAGGCTTG	1711.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.13;DP=746;ExcessHet=0;FS=1.554;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.42;ReadPosRankSum=1.49;SOR=0.897	GT:AD:DP:GQ:PL	0/1:65,46:111:99:1725,0,2538	18	0	1	0
chr10	119796747	119796747	G	A	exonic	INPP5F	.	nonsynonymous SNV	INPP5F:NM_014937:exon7:c.G702A:p.M234I	.	425	1086	10	1	0	12	0.00549451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	.	0.0076	0.00319489	0.0062	0.0019	0.0041	0.0001	0.0042	0.0095	0.0077	0.0009	0.0062871	972	154602	rs34239637	0.0082	0.0083	0.0084	0.0080	0.0098	0.0081	0.0081	0.0096	0.0095	0.0014	0.0049	0.0043	0	0.0036	0.0043	0.0098	0.0079	0.0012	0.0064	0.0064	0.0069	0.0058	0.0103	0.0060	0.0059	0.0097	0.0094	0.0019	0.0055	0.0086	0.0046	0	0.0017	0.0136	0.0103	0.0062	0.0008	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.001898	0.37740	N	0.316403	0.502122	0.31750	D	-1.86	0.00260	N	0.61	0.53516	T	2.06	0.00379	N	0.247	0.27910	-0.9588	0.39405	T	0.011	0.04321	T	10	0.005298704	0.00116	T	.	.	.	0.074	0.21613	0.435	0.48664	0.0986583533028	0.09354	0.24951003347931272	0.24865	0.140751882377	0.15877	0.473517119884	0.35165	T	0.140908	0.47570	T	-0.638141	0.00085	T	-0.679034	0.07043	T	0.000663455303258933	0.00006	T	0.808019	0.56350	T	0.043542735	0.06805	0.0601865	0.11420	0.043542735	0.06805	0.0601865	0.11419	0.555	0.00202	T	.	.	0.099	0.16494	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.054691	0.04672	1.321	0.65318453901849693	0.07739	0.68304	0.33751	D	AEFDBI	0.076075	0.15296	N	-1.15945336700963	0.05626	0.2569728	-0.888584798854169	0.12364	0.635556	6.53460180504768E-4	0.07551	0.706298	0.61202	0	0.653731	0.59785	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.8	-0.228	0.12452	0.015000	0.13250	-1.643000	0.05000	-0.140000	0.12423	0.929000	0.32243	0.000000	0.08366	0.995000	0.73285	0.0:0.6238:0.1517:0.2245	7.779	0.28216	454	0.79125	SAC domain|SAC domain;.;SAC domain|SAC domain;.;.;.;.	.	.	.	.	rs34239637	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.005035	0.005051	0.008152	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1163.33	40	chr10	119796747	.	G	A	1163.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.218;DP=733;ExcessHet=0;FS=3.481;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.48;ReadPosRankSum=0.545;SOR=1.03	GT:AD:DP:GQ:PL	0/1:61,50:111:99:1177,0,1492	18	0	1	0
chr10	119898750	119898750	C	G	exonic	SEC23IP	.	nonsynonymous SNV	SEC23IP:NM_007190:exon2:c.C487G:p.L163V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.336	0.120769286184	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.03e-05	0.0002	1.093e-05	9.654e-06	1.174e-05	6.18e-06	4.9e-06	6.55e-06	5.05e-06	0	0	0	0	0	0	1.174e-05	3.32e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.556	0.06461	T	0.821	0.12246	T	0.104	0.25941	B	0.062	0.26930	B	0.000005	0.62929	D	0.107180	1	0.81001	D	1.78	0.46185	L	-4.25	0.97054	D	0.01	0.06868	N	0.207	0.22998	0.479	0.90252	D	0.815	0.93762	D	10	0.15099514	0.28548	T	0.120769	0.80138	D	0.336	0.65816	0.186	0.09517	0.849074084723	0.84762	0.11778504863915601	0.11705	0.144110295782	0.16271	0.353825509548	0.18484	T	0.091547	0.38818	T	0.043976	0.57564	T	-0.174608	0.57021	T	0.556831955909729	0.34735	D	0.738826	0.35731	T	0.14919165	0.34025	0.09147891	0.21510	0.14919165	0.34024	0.09147891	0.21510	-3.167	0.12082	T	.	.	0.071	0.05274	B	.;.	.;.	1.155811	0.15440	11.85	0.95415677836796886	0.26887	0.98451	0.82913	D	AEFGBI	0.532298	0.55222	D	-0.292483383673774	0.29436	1.632456	-0.16913862766753	0.32679	1.861587	0.999999898467037	0.74766	0.722319	0.85440	0	0.698795	0.70079	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.55	4.65	0.57626	2.670000	0.46499	2.509000	0.33065	0.599000	0.40250	1.000000	0.71638	0.997000	0.33255	0.518000	0.29429	0.0:0.9277:0.0:0.0723	14.037	0.64172	631	0.64944	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	179.35	180	chr10	119898750	.	C	G	179.35	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-5.428;DP=2753;ExcessHet=0.3672;FS=259.479;InbreedingCoeff=-0.3586;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=0.328;SOR=10.048	GT:AD:DP:GQ:PL	0/1:125,41:166:42:42,0,2586	2	0	3	14
chr10	122983003	122983003	G	C	exonic	PSTK	.	nonsynonymous SNV	PSTK:NM_001363531:exon2:c.G487C:p.V163L,PSTK:NM_153336:exon2:c.G487C:p.V163L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1062.87	83	chr10	122983003	.	G	C	1062.87	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-1.7;DP=2257;ExcessHet=11.1788;FS=178.411;InbreedingCoeff=-0.4627;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=0.593;SOR=13.029	GT:AD:DP:GQ:PL	0/1:76,24:106:12:12,0,1457	6	0	12	1
chr10	124989543	124989543	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon9:c.A1517G:p.N506S,CTBP2:NM_022802:exon9:c.A2933G:p.N978S,CTBP2:NM_001321013:exon10:c.A1313G:p.N438S,CTBP2:NM_001083914:exon11:c.A1313G:p.N438S,CTBP2:NM_001290214:exon11:c.A1313G:p.N438S,CTBP2:NM_001290215:exon11:c.A1313G:p.N438S,CTBP2:NM_001321012:exon11:c.A1313G:p.N438S,CTBP2:NM_001321014:exon11:c.A1313G:p.N438S,CTBP2:NM_001329:exon11:c.A1313G:p.N438S	.	430	785	300	7	0	314	0.166667	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.0412206901109	.	.	.	.	.	.	.	.	.	.	0.0011526	30	26028	rs75839774	4.107e-06	4.104e-06	5.449e-06	2.752e-06	4.497e-06	1.48e-06	9.7e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.497e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.61437	D	0.553	0.32461	T	0.017	0.35330	B	0.044	0.44683	B	0.040786	0.24019	N	0.433304	0.546531	0.31369	N	1.1	0.28011	L	-1.58	0.82806	D	-0.98	0.25986	N	0.097	0.39153	-0.2662	0.75916	T	0.330	0.69766	T	10	0.12751639	0.24250	T	0.041221	0.59806	D	0.362	0.68230	0.075	0.00517	0.760080849401	0.75790	0.26369227103169535	0.26282	1.68067603589	0.89969	0.448414385319	0.31727	T	0.157679	0.50038	T	0.0363132	0.56560	T	-0.185615	0.55999	T	0.436808287713247	0.30312	T	0.90311	0.67973	D	0.08655811	0.20123	0.08484771	0.19547	0.08655811	0.20122	0.08484771	0.19547	-2.304	0.04577	T	.	.	0.070	0.03588	B	.;.;.;.;.;.	.;.;.;.;.;.	2.477890	0.31950	18.89	0.9913628706847909	0.53410	0.86806	0.46168	D	AEFDGBCI	0.540087	0.55679	D	-0.275999058280499	0.30077	1.67381	-0.0903501737703044	0.35788	2.074695	0.999999280419097	0.74766	0.722319	0.85440	0	0.00446	0.00028	3	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.12	3.98	0.45383	2.629000	0.46152	0.448000	0.18493	0.665000	0.62972	1.000000	0.71638	0.999000	0.35428	1.000000	0.97212	0.0:0.0728:0.0:0.9272	11.061	0.47165	940	0.13648	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	20592.3	168	chr10	124989543	.	T	C	20592.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-3.212;DP=2545;ExcessHet=38.2876;FS=17.974;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=49.65;MQRankSum=-8.998;QD=8.51;ReadPosRankSum=0.06;SOR=0.178	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:95,33:128:99:0|1:124989533_G_A:1043,0,3824:124989533	1	0	18	0
chr10	124989565	124989565	G	-	exonic	CTBP2	.	frameshift deletion	CTBP2:NM_001363508:exon9:c.1495delC:p.Q499Sfs*36,CTBP2:NM_022802:exon9:c.2911delC:p.Q971Sfs*36,CTBP2:NM_001321013:exon10:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001083914:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290214:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001290215:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321012:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001321014:exon11:c.1291delC:p.Q431Sfs*36,CTBP2:NM_001329:exon11:c.1291delC:p.Q431Sfs*36	.	440	850	230	2	0	234	0.120993	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001537	4	26028	rs146097043	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	8765.83	174	chr10	124989564	.	TG	T	8765.83	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.94;DP=2670;ExcessHet=31.086;FS=16.933;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=51.59;MQRankSum=-8.373;QD=3.69;ReadPosRankSum=-1.813;SOR=0.178	GT:AD:DP:GQ:PL	0/1:107,23:130:99:383,0,3633	2	0	17	0
chr10	124994489	124994489	T	G	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.A964C:p.N322H,CTBP2:NM_022802:exon5:c.A2380C:p.N794H,CTBP2:NM_001321013:exon6:c.A760C:p.N254H,CTBP2:NM_001083914:exon7:c.A760C:p.N254H,CTBP2:NM_001290214:exon7:c.A760C:p.N254H,CTBP2:NM_001290215:exon7:c.A760C:p.N254H,CTBP2:NM_001321012:exon7:c.A760C:p.N254H,CTBP2:NM_001321014:exon7:c.A760C:p.N254H,CTBP2:NM_001329:exon7:c.A760C:p.N254H	.	425	876	218	3	0	224	0.11336	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.855	0.287995004976	.	.	.	.	.	.	.	.	.	.	.	.	.	rs913075834	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.044	0.53900	D	0.014	0.69154	D	1.0	0.90584	D	0.995	0.84481	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.03	0.86425	M	-1.64	0.82533	D	-4.7	0.80510	D	0.955	0.96416	0.598	0.91868	D	0.722	0.90485	D	10	0.93609107	0.92939	D	0.287995	0.90464	D	0.855	0.95544	0.749	0.87988	0.908261012674	0.90733	0.9221523146368497	0.92192	2.0305426451	0.94091	0.826209723949	0.85982	D	0.743281	0.92907	D	0.230793	0.76796	D	0.0937411	0.76494	D	0.996190285808554	0.88852	D	0.970303	0.89317	D	0.91641486	0.92901	0.8315015	0.90282	0.91641486	0.92902	0.8315015	0.90283	-11.706	0.83405	D	.	.	0.818	0.83534	P	.;.;.;.;.;.	.;.;.;.;.;.	4.739043	0.76411	26.5	0.99694374199735813	0.80180	0.94484	0.61314	D	AEFDGBCI	0.936668	0.93334	D	0.798915340390827	0.86037	8.759083	0.761626191030682	0.87022	9.081087	0.999999999999979	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.36	5.36	0.76624	7.674000	0.83146	7.884000	0.72673	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	15.357	0.74148	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	5963.25	35	chr10	124994489	.	T	G	5963.25	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.41;DP=2809;ExcessHet=25.4433;FS=26.988;InbreedingCoeff=-0.7286;MLEAC=16;MLEAF=0.421;MQ=58.25;MQRankSum=-7.677;QD=2.44;ReadPosRankSum=-3.639;SOR=3.339	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:151,16:167:99:0|1:124994489_T_G:217,0,6223:124994489	3	0	16	0
chr10	124994501	124994501	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C952T:p.H318Y,CTBP2:NM_022802:exon5:c.C2368T:p.H790Y,CTBP2:NM_001321013:exon6:c.C748T:p.H250Y,CTBP2:NM_001083914:exon7:c.C748T:p.H250Y,CTBP2:NM_001290214:exon7:c.C748T:p.H250Y,CTBP2:NM_001290215:exon7:c.C748T:p.H250Y,CTBP2:NM_001321012:exon7:c.C748T:p.H250Y,CTBP2:NM_001321014:exon7:c.C748T:p.H250Y,CTBP2:NM_001329:exon7:c.C748T:p.H250Y	.	426	821	272	3	0	278	0.144792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.771	0.0948171006631	.	.	.	.	.	.	.	.	.	.	.	.	.	rs978705792	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.42487	T	0.297	0.31125	T	0.868	0.47740	P	0.617	0.54186	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.11	0.08516	N	-1.36	0.80125	T	-5.44	0.85541	D	0.915	0.92084	-0.1289	0.79427	T	0.435	0.77536	T	10	0.7908057	0.78643	D	0.094817	0.76319	D	0.771	0.92294	0.486	0.56939	0.919217431084	0.91840	0.9252807218489828	0.92505	1.25117579951	0.81802	0.887714266777	0.94973	D	0.545829	0.84532	D	0.352326	0.86659	D	0.268315	0.86483	D	0.94890558719635	0.62996	D	0.972303	0.89961	D	0.826035	0.85629	0.7361207	0.84404	0.826035	0.85631	0.7361207	0.84405	-9.649	0.71784	D	.	.	0.781	0.76420	P	.;.;.;.;.;.	.;.;.;.;.;.	4.665783	0.74522	26.2	0.99760421591352766	0.85011	0.95027	0.63172	D	AEFDGBCI	0.931287	0.91988	D	0.465501566800638	0.65087	4.778689	0.565123419115292	0.72454	5.812716	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.771000	0.84203	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	8869.86	35	chr10	124994501	.	G	A	8869.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.103;DP=3037;ExcessHet=31.086;FS=31.76;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.66;MQRankSum=-6.926;QD=3.22;ReadPosRankSum=-2.916;SOR=3.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:153,21:174:99:0|1:124994489_T_G:421,0,6321:124994489	2	0	17	0
chr10	124994505	124994505	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T948A:p.H316Q,CTBP2:NM_022802:exon5:c.T2364A:p.H788Q,CTBP2:NM_001321013:exon6:c.T744A:p.H248Q,CTBP2:NM_001083914:exon7:c.T744A:p.H248Q,CTBP2:NM_001290214:exon7:c.T744A:p.H248Q,CTBP2:NM_001290215:exon7:c.T744A:p.H248Q,CTBP2:NM_001321012:exon7:c.T744A:p.H248Q,CTBP2:NM_001321014:exon7:c.T744A:p.H248Q,CTBP2:NM_001329:exon7:c.T744A:p.H248Q	.	423	816	278	5	0	288	0.15	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.476	0.0731369313184	.	.	.	.	.	.	.	.	.	.	.	.	.	rs937366751	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05	0.46513	D	0.259	0.44702	T	0.682	0.41464	P	0.219	0.43945	B	0.000000	0.84330	D	0.000000	0.999904	0.50806	D	-0.715	0.01801	N	-1.26	0.79176	T	-6.79	0.93135	D	0.687	0.70000	-0.8006	0.55109	T	0.184	0.53255	T	10	0.5356107	0.63429	D	0.073137	0.71713	D	0.476	0.76816	0.447	0.50629	0.947376611969	0.94682	0.8013614072212495	0.80090	0.902566627065	0.70693	0.888023793697	0.95012	D	0.559992	0.85254	D	0.155552	0.69787	D	-0.0143363	0.69401	D	0.887895047664642	0.53844	D	0.743426	0.36288	T	0.90044665	0.91423	0.7164848	0.83265	0.90044665	0.91424	0.7164848	0.83266	-12.552	0.89160	D	.	.	0.886	0.85521	P	.;.;.;.;.;.	.;.;.;.;.;.	3.763339	0.54010	23.4	0.97895156658106663	0.36704	0.72838	0.35639	D	AEFDGBCI	0.464485	0.51296	N	-0.261912955812249	0.30631	1.70973	-0.146100228405978	0.33558	1.920874	0.999999244525417	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	1.37	0.21200	1.883000	0.39293	2.678000	0.33996	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.989000	0.64315	0.5559:0.0:0.4441:0.0	8.31	0.31226	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4474	9100.86	35	chr10	124994505	.	A	T	9100.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.29;DP=3109;ExcessHet=31.086;FS=32.046;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=57.53;MQRankSum=-6.856;QD=3.31;ReadPosRankSum=-2.157;SOR=3.807	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:154,21:175:99:0|1:124994489_T_G:418,0,6315:124994489	2	0	17	0
chr10	124994530	124994530	G	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.C923T:p.S308F,CTBP2:NM_022802:exon5:c.C2339T:p.S780F,CTBP2:NM_001321013:exon6:c.C719T:p.S240F,CTBP2:NM_001083914:exon7:c.C719T:p.S240F,CTBP2:NM_001290214:exon7:c.C719T:p.S240F,CTBP2:NM_001290215:exon7:c.C719T:p.S240F,CTBP2:NM_001321012:exon7:c.C719T:p.S240F,CTBP2:NM_001321014:exon7:c.C719T:p.S240F,CTBP2:NM_001329:exon7:c.C719T:p.S240F	.	421	688	403	10	0	423	0.235131	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.938	0.47632593724	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs374871777	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.033	0.59928	D	0.001	0.83351	D	1.0	0.90584	D	0.993	0.83170	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.465	0.71551	M	-1.61	0.82254	D	-5.08	0.82896	D	0.976	0.98657	0.694	0.93099	D	0.759	0.91795	D	10	0.9291788	0.92260	D	0.476326	0.94766	D	0.938	0.98636	0.718	0.85319	0.963037453765	0.96263	0.9856555258906051	0.98558	2.08621322631	0.94675	0.860175311565	0.91136	D	0.733508	0.92560	D	0.422049	0.91127	D	0.368468	0.91016	D	0.994980752468109	0.86633	D	0.836416	0.50788	T	0.98504084	0.99469	0.92532665	0.96770	0.98504084	0.99469	0.92532665	0.96771	-14.995	0.96879	D	.	.	0.993	0.95154	P	.;.;.;.;.;.	.;.;.;.;.;.	5.187974	0.87005	29.1	0.99852028210273314	0.93102	0.95134	0.63563	D	AEFDGBCI	0.931287	0.91988	D	0.925236055449727	0.92941	11.72177	0.873600535312142	0.94317	12.66702	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	9.602000	0.97623	11.823000	0.97298	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:1.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	13165.0	224	chr10	124994530	.	G	A	13165.0	.	AC=18;AF=0.474;AN=38;BaseQRankSum=-0.518;DP=3717;ExcessHet=38.2876;FS=52.691;InbreedingCoeff=-0.9045;MLEAC=18;MLEAF=0.474;MQ=56.99;MQRankSum=-6.295;QD=4.31;ReadPosRankSum=1.03;SOR=4.688	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,27:190:99:0|1:124994523_G_A:596,0,6635:124994523	1	0	18	0
chr10	124994542	124994542	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G911A:p.S304N,CTBP2:NM_022802:exon5:c.G2327A:p.S776N,CTBP2:NM_001321013:exon6:c.G707A:p.S236N,CTBP2:NM_001083914:exon7:c.G707A:p.S236N,CTBP2:NM_001290214:exon7:c.G707A:p.S236N,CTBP2:NM_001290215:exon7:c.G707A:p.S236N,CTBP2:NM_001321012:exon7:c.G707A:p.S236N,CTBP2:NM_001321014:exon7:c.G707A:p.S236N,CTBP2:NM_001329:exon7:c.G707A:p.S236N	.	418	797	293	14	0	321	0.167624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.881	0.520636706354	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs78155918	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.004	0.79402	D	0.994	0.66517	D	0.972	0.72692	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.19	0.88972	M	-1.86	0.84341	D	-2.9	0.61580	D	0.951	0.95956	0.923	0.96008	D	0.835	0.94461	D	10	0.96767014	0.96284	D	0.520637	0.95441	D	0.881	0.96502	0.859	0.95718	0.8508886717	0.84945	0.9945051231415541	0.99447	1.72531923595	0.90642	0.895219087601	0.95893	D	0.849948	0.96576	D	0.195726	0.73494	D	0.04337	0.73148	D	0.993175552752073	0.83871	D	0.98969	0.96662	D	0.9860643	0.99535	0.9414922	0.97865	0.9860643	0.99535	0.9414922	0.97866	-14.163	0.96648	D	.	.	0.990	0.93538	P	.;.;.;.;.;.	.;.;.;.;.;.	4.768549	0.77163	26.6	0.99793032458852304	0.87839	0.92617	0.56134	D	AEFDGBCI	0.921115	0.89410	D	0.951529578297244	0.94047	12.46209	0.869409228877299	0.94098	12.50256	1.0	0.98316	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.21	5.21	0.72005	7.568000	0.81546	7.667000	0.64568	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:1.0:0.0:0.0	18.767	0.91839	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	6669.77	218	chr10	124994542	.	C	T	6669.77	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-2.167;DP=3803;ExcessHet=31.086;FS=61.277;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=56.82;MQRankSum=-6.243;QD=2.29;ReadPosRankSum=2.29;SOR=5.37	GT:AD:DP:GQ:PL	0/1:153,29:182:99:317,0,4344	1	0	17	1
chr10	124994563	124994563	A	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.T890A:p.L297Q,CTBP2:NM_022802:exon5:c.T2306A:p.L769Q,CTBP2:NM_001321013:exon6:c.T686A:p.L229Q,CTBP2:NM_001083914:exon7:c.T686A:p.L229Q,CTBP2:NM_001290214:exon7:c.T686A:p.L229Q,CTBP2:NM_001290215:exon7:c.T686A:p.L229Q,CTBP2:NM_001321012:exon7:c.T686A:p.L229Q,CTBP2:NM_001321014:exon7:c.T686A:p.L229Q,CTBP2:NM_001329:exon7:c.T686A:p.L229Q	.	408	769	327	18	0	363	0.190952	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.960	0.547155886187	.	.	.	.	.	.	.	.	.	.	7.68e-05	2	26028	rs150320719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.017	0.83351	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999999	0.81001	D	2.835	0.82492	M	-1.85	0.84267	D	-5.78	0.88699	D	0.932	0.93841	0.754	0.93845	D	0.782	0.92582	D	10	0.9727028	0.96922	D	0.547156	0.95809	D	0.960	0.99376	0.857	0.95604	0.951774941741	0.95126	0.9701566259621512	0.97004	2.04308220201	0.94282	0.848910570145	0.89450	D	0.853663	0.96692	D	0.45783	0.92829	D	0.419864	0.92740	D	0.999412894248962	0.97310	D	0.830117	0.49576	T	0.9576254	0.97040	0.9405844	0.97806	0.9576254	0.97041	0.9405844	0.97806	-13.719	0.92108	D	.	.	0.992	0.94272	P	.;.;.;.;.;.	.;.;.;.;.;.	5.061375	0.84364	28.3	0.99631799569558666	0.76081	0.94544	0.61510	D	AEFDGBCI	0.948042	0.95924	D	0.879361810884359	0.90712	10.53043	0.831570877214738	0.91895	11.12529	0.999999999999983	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	5.42	0.78666	8.947000	0.92735	11.208000	0.89295	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.466	0.75135	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	6662.69	214	chr10	124994563	.	A	T	6662.69	.	AC=18;AF=0.5;AN=36;BaseQRankSum=-2.888;DP=3853;ExcessHet=38.2876;FS=70.258;InbreedingCoeff=-0.9487;MLEAC=19;MLEAF=0.528;MQ=56.72;MQRankSum=-6.4;QD=2.12;ReadPosRankSum=3.59;SOR=5.482	GT:AD:DP:GQ:PL	0/1:163,34:197:99:288,0,4767	0	0	18	1
chr10	124994577	124994577	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon5:c.G876T:p.Q292H,CTBP2:NM_022802:exon5:c.G2292T:p.Q764H,CTBP2:NM_001321013:exon6:c.G672T:p.Q224H,CTBP2:NM_001083914:exon7:c.G672T:p.Q224H,CTBP2:NM_001290214:exon7:c.G672T:p.Q224H,CTBP2:NM_001290215:exon7:c.G672T:p.Q224H,CTBP2:NM_001321012:exon7:c.G672T:p.Q224H,CTBP2:NM_001321014:exon7:c.G672T:p.Q224H,CTBP2:NM_001329:exon7:c.G672T:p.Q224H	.	408	580	516	18	0	552	0.32243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.696	0.0892909269972	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs80025996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.63226	D	0.087	0.69154	T	0.964	0.68779	D	0.898	0.69447	P	0.000000	0.84330	D	0.000000	0.999957	0.58761	D	0.49	0.13296	N	-1.71	0.83815	D	-3.39	0.66896	D	0.743	0.76111	0.130	0.84714	D	0.526	0.82375	D	10	0.69303375	0.71973	D	0.089291	0.75298	D	0.696	0.89007	0.404	0.43573	0.949204094444	0.94866	0.8408413105034186	0.84044	1.71814521226	0.90529	0.835075438023	0.87341	D	0.524087	0.83410	D	0.323687	0.84732	D	0.227177	0.84532	D	0.984627544879913	0.75871	D	0.969203	0.88895	D	0.8669297	0.88620	0.72212815	0.83591	0.8669297	0.88622	0.72212815	0.83592	-9.982	0.77738	D	.	.	0.579	0.68002	P	.;.;.;.;.;.	.;.;.;.;.;.	4.008335	0.59116	24.1	0.99735057696966967	0.83047	0.87870	0.47561	D	AEFDGBCI	0.735142	0.68105	D	0.394708730247093	0.61135	4.310599	0.421330055103997	0.62895	4.513037	0.999999999997443	0.74766	0.722319	0.85440	0	0.550933	0.16991	0	0.67197	0.60751	0	0.735409	0.98432	0	.	.	5.42	4.51	0.54589	3.891000	0.55940	4.055000	0.41540	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.9224:0.0:0.0776	13.270	0.59589	942	0.12992	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain|D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.5	18811.3	222	chr10	124994577	.	C	A	18811.3	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-4.155;DP=3962;ExcessHet=48.2876;FS=72.251;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=56.8;MQRankSum=-6.921;QD=5.38;ReadPosRankSum=2.92;SOR=5.081	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:174,39:213:99:0|1:124994577_C_A:1053,0,7068:124994577	0	0	19	0
chr10	125003006	125003006	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A516G:p.I172M,CTBP2:NM_022802:exon3:c.A1932G:p.I644M,CTBP2:NM_001321013:exon4:c.A312G:p.I104M,CTBP2:NM_001083914:exon5:c.A312G:p.I104M,CTBP2:NM_001290214:exon5:c.A312G:p.I104M,CTBP2:NM_001290215:exon5:c.A312G:p.I104M,CTBP2:NM_001321012:exon5:c.A312G:p.I104M,CTBP2:NM_001321014:exon5:c.A312G:p.I104M,CTBP2:NM_001329:exon5:c.A312G:p.I104M	.	446	735	288	11	42	352	0.174157	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299	0.0321536739593	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112239066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.55530	D	0.08	0.63918	T	0.181	0.33195	B	0.448	0.54942	P	0.000000	0.84330	D	0.041576	0.999844	0.50061	D	0.75	0.19020	N	0.49	0.55775	T	-2.64	0.58569	D	0.836	0.83269	-0.7500	0.57935	T	0.204	0.56197	T	10	0.6425146	0.69138	D	0.032154	0.54058	D	0.299	0.61955	0.608	0.74063	0.888756313204	0.88766	0.8899222963871994	0.88962	1.97030917324	0.93550	0.763966917992	0.76522	T	0.498739	0.82005	T	0.153991	0.69642	D	-0.0165792	0.69254	D	0.892641007900238	0.54376	D	0.971703	0.89738	D	0.900253	0.91405	0.73775256	0.84500	0.900253	0.91406	0.73775256	0.84501	-11.638	0.83043	D	.	.	0.704	0.73111	P	.;.;.;.;.;.	.;.;.;.;.;.	3.009532	0.40238	21.1	0.98800960143032701	0.46445	0.70557	0.34640	D	AEFDGBCI	0.375410	0.45995	N	-0.354523303243395	0.27107	1.484558	-0.382971277888603	0.25504	1.402991	0.999987104814068	0.51787	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	-0.385	0.11849	0.087000	0.14801	-2.864000	0.03283	0.661000	0.55757	0.984000	0.35821	0.000000	0.08366	0.987000	0.62547	0.1048:0.0:0.556:0.3392	9.404	0.37616	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.25	446.39	235	chr10	125003006	.	T	C	446.39	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.486;DP=2698;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.097;QD=0.84;ReadPosRankSum=0.636;SOR=1.136	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:69,9:78:99:.:.:157,0,2860:.	5	0	5	9
chr10	125003008	125003008	T	C	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A514G:p.I172V,CTBP2:NM_022802:exon3:c.A1930G:p.I644V,CTBP2:NM_001321013:exon4:c.A310G:p.I104V,CTBP2:NM_001083914:exon5:c.A310G:p.I104V,CTBP2:NM_001290214:exon5:c.A310G:p.I104V,CTBP2:NM_001290215:exon5:c.A310G:p.I104V,CTBP2:NM_001321012:exon5:c.A310G:p.I104V,CTBP2:NM_001321014:exon5:c.A310G:p.I104V,CTBP2:NM_001329:exon5:c.A310G:p.I104V	.	445	756	296	11	14	332	0.17377	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.268	0.00473531755394	.	.	.	.	.	.	.	.	.	.	0.0001153	3	26028	rs112508291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07	0.49117	T	0.225	0.53426	T	0.077	0.31731	B	0.17	0.40265	B	0.000000	0.84330	D	0.041576	0.999999	0.58761	D	0.695	0.17993	N	0.75	0.50192	T	-0.79	0.24026	N	0.556	0.58202	-0.9237	0.45041	T	0.114	0.40582	T	10	0.38906825	0.54757	T	0.004735	0.11784	T	0.268	0.58254	0.543	0.65589	0.617811438573	0.61472	0.8191908894802049	0.81876	0.844564219319	0.68219	0.727838099003	0.71190	T	0.212424	0.57347	T	0.0218691	0.54635	T	-0.206363	0.54044	T	0.846796572208405	0.49891	D	0.80082	0.44648	T	0.6371357	0.74678	0.6131621	0.77490	0.6371357	0.74680	0.6131621	0.77491	-10.157	0.74846	D	.	.	0.354	0.56812	A	.;.;.;.;.;.	.;.;.;.;.;.	4.218404	0.63791	24.6	0.9760612770993129	0.34876	0.96140	0.67716	D	AEFDGBCI	0.953944	0.97066	D	-0.0415507725916174	0.39979	2.366619	0.072950189852906	0.43195	2.62624	0.999999999999936	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.94	0.64645	6.271000	0.72566	7.738000	0.67953	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.993000	0.69303	0.0:0.0:0.0:1.0	14.902	0.70330	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	419.35	233	chr10	125003008	.	T	C	419.35	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-1.65;DP=2690;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3337;MLEAC=7;MLEAF=0.35;MQ=57.21;MQRankSum=-5.097;QD=0.78;ReadPosRankSum=0.883;SOR=1.133	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,9:78:99:0|1:125003008_T_C:157,0,2860:125003008	5	0	5	9
chr10	125003010	125003010	C	T	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G512A:p.R171Q,CTBP2:NM_022802:exon3:c.G1928A:p.R643Q,CTBP2:NM_001321013:exon4:c.G308A:p.R103Q,CTBP2:NM_001083914:exon5:c.G308A:p.R103Q,CTBP2:NM_001290214:exon5:c.G308A:p.R103Q,CTBP2:NM_001290215:exon5:c.G308A:p.R103Q,CTBP2:NM_001321012:exon5:c.G308A:p.R103Q,CTBP2:NM_001321014:exon5:c.G308A:p.R103Q,CTBP2:NM_001329:exon5:c.G308A:p.R103Q	.	444	756	297	11	14	333	0.174222	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.504	0.05280934696	.	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs760489730	3.421e-06	3.42e-06	4.084e-06	2.751e-06	2.698e-06	1e-06	7.3e-07	7.2e-07	2e-07	0	0	0	0	0	0	2.698e-06	3.312e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.49117	D	0.097	0.47828	T	0.981	0.70673	D	0.87	0.69585	P	0.000002	0.62929	D	0.103452	0.999999	0.58761	D	1.885	0.50048	L	0.74	0.50459	T	-3.3	0.70553	D	0.879	0.89020	-0.3679	0.73025	T	0.302	0.67288	T	10	0.8397628	0.83130	D	0.052809	0.65217	D	0.504	0.78600	0.649	0.78648	0.920337149778	0.91953	0.9496583447662756	0.94948	2.13197071687	0.95171	0.73884499073	0.72801	T	0.615991	0.87897	D	0.255676	0.79129	D	0.129484	0.78858	D	0.985857844352722	0.76728	D	0.876112	0.58827	D	0.93815976	0.95059	0.8432051	0.91051	0.93815976	0.95060	0.8432051	0.91051	-13.433	0.93329	D	.	.	0.974	0.90036	P	.;.;.;.;.;.	.;.;.;.;.;.	5.858587	0.93846	33	0.99909411540893078	0.97949	0.95340	0.64339	D	AEFDGBCI	0.924502	0.90264	D	0.389332597998194	0.60844	4.277879	0.288795626305503	0.54883	3.652246	0.999999999992808	0.74766	0.722319	0.85440	0	0.588066	0.40923	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.04	0.46262	6.159000	0.71664	3.924000	0.40490	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.9243:0.0:0.0757	13.592	0.61434	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	440.56	235	chr10	125003010	.	C	T	440.56	.	AC=5;AF=0.25;AN=20;BaseQRankSum=-0.965;DP=2699;ExcessHet=1.3;FS=2.263;InbreedingCoeff=-0.3359;MLEAC=7;MLEAF=0.35;MQ=57.24;MQRankSum=-5.032;QD=0.83;ReadPosRankSum=0.743;SOR=1.156	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,9:78:99:0|1:125003008_T_C:157,0,2860:125003008	5	0	5	9
chr10	125003036	125003036	C	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.G486T:p.K162N,CTBP2:NM_022802:exon3:c.G1902T:p.K634N,CTBP2:NM_001321013:exon4:c.G282T:p.K94N,CTBP2:NM_001083914:exon5:c.G282T:p.K94N,CTBP2:NM_001290214:exon5:c.G282T:p.K94N,CTBP2:NM_001290215:exon5:c.G282T:p.K94N,CTBP2:NM_001321012:exon5:c.G282T:p.K94N,CTBP2:NM_001321014:exon5:c.G282T:p.K94N,CTBP2:NM_001329:exon5:c.G282T:p.K94N	.	419	630	463	10	0	483	0.277108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.295	0.0466189854146	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs201760950	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0.04	0.43708	D	0.12	0.58089	T	0.986	0.61523	D	0.89	0.63157	P	0.000000	0.84330	N	0.042861	0.999994	0.58761	D	1.115	0.28702	L	0.72	0.50976	T	-4.42	0.80425	D	0.797	0.79696	-0.8284	0.53403	T	0.177	0.52272	T	10	0.7330282	0.74429	D	0.046619	0.62540	D	0.295	0.61502	0.506	0.60078	0.669401567584	0.66661	0.9683590239784833	0.96823	1.29775370337	0.82942	0.700282335281	0.67184	T	0.552971	0.84897	D	-0.0504497	0.44379	T	-0.310244	0.43632	T	0.989160597324371	0.79417	D	0.748325	0.36895	T	0.7315896	0.79813	0.47296822	0.69449	0.7315896	0.79814	0.47296822	0.69450	-15.293	0.98237	D	.	.	0.987	0.92764	P	.;.;.;.;.;.	.;.;.;.;.;.	4.828208	0.78704	27.0	0.99659729855249335	0.77883	0.88851	0.48981	D	AEFDGBCI	0.619890	0.60515	D	0.116058801363205	0.47212	2.950075	0.0734135689233688	0.43216	2.628043	0.999999959797154	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	4.03	0.46115	2.713000	0.46862	1.753000	0.28490	-0.180000	0.10397	1.000000	0.71638	1.000000	0.68203	0.924000	0.46004	0.1568:0.6905:0.0:0.1528	6.007	0.18780	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2727	522.42	224	chr10	125003036	.	C	A	522.42	.	AC=6;AF=0.273;AN=22;BaseQRankSum=-2.179;DP=2686;ExcessHet=2.0135;FS=10.865;InbreedingCoeff=-0.3614;MLEAC=8;MLEAF=0.364;MQ=56.82;MQRankSum=-4.942;QD=0.84;ReadPosRankSum=0.899;SOR=1.951	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,11:88:99:0|1:125003036_C_A:109,0,3126:125003036	5	0	6	8
chr10	125003062	125003062	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A460T:p.T154S,CTBP2:NM_022802:exon3:c.A1876T:p.T626S,CTBP2:NM_001321013:exon4:c.A256T:p.T86S,CTBP2:NM_001083914:exon5:c.A256T:p.T86S,CTBP2:NM_001290214:exon5:c.A256T:p.T86S,CTBP2:NM_001290215:exon5:c.A256T:p.T86S,CTBP2:NM_001321012:exon5:c.A256T:p.T86S,CTBP2:NM_001321014:exon5:c.A256T:p.T86S,CTBP2:NM_001329:exon5:c.A256T:p.T86S	.	411	643	453	15	0	483	0.273036	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.491	0.0483128458714	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs3198936	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.189	0.41637	T	0.522	0.36901	T	0.007	0.21357	B	0.008	0.27757	B	0.000000	0.84330	N	0.044612	0.996569	0.47043	D	1.065	0.27018	L	-1.93	0.84842	D	-3.0	0.65283	D	0.671	0.67908	-0.3304	0.74122	T	0.453	0.78662	T	10	0.56667346	0.65089	D	0.048313	0.63318	D	0.491	0.77783	0.57	0.69299	0.899189000732	0.89818	0.8017034108621458	0.80124	0.863764543004	0.69092	0.755492687225	0.75259	T	0.411071	0.76563	T	0.128098	0.67174	D	-0.0537727	0.66764	D	0.93286007642746	0.59920	D	0.675032	0.28342	T	0.4517838	0.64154	0.32242507	0.58182	0.4517838	0.64154	0.32242507	0.58182	-10.785	0.78466	D	.	.	0.259	0.49334	B	.;.;.;.;.;.	.;.;.;.;.;.	5.379924	0.90166	31	0.92993315479242666	0.22579	0.88414	0.48331	D	AEFDGBCI	0.628457	0.61053	D	-0.327467056762658	0.28109	1.547675	-0.174877914286987	0.32463	1.847172	0.999999921045429	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	4.998000	0.63670	6.076000	0.53302	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1099.74	206	chr10	125003062	.	T	A	1099.74	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.677;DP=2663;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.4087;MLEAC=10;MLEAF=0.455;MQ=56.84;MQRankSum=-5.566;QD=1.47;ReadPosRankSum=1.17;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:83,11:94:99:0|1:125003062_T_A:131,0,3452:125003062	4	0	7	8
chr10	125003065	125003065	T	A	exonic	CTBP2	.	nonsynonymous SNV	CTBP2:NM_001363508:exon3:c.A457T:p.I153F,CTBP2:NM_022802:exon3:c.A1873T:p.I625F,CTBP2:NM_001321013:exon4:c.A253T:p.I85F,CTBP2:NM_001083914:exon5:c.A253T:p.I85F,CTBP2:NM_001290214:exon5:c.A253T:p.I85F,CTBP2:NM_001290215:exon5:c.A253T:p.I85F,CTBP2:NM_001321012:exon5:c.A253T:p.I85F,CTBP2:NM_001321014:exon5:c.A253T:p.I85F,CTBP2:NM_001329:exon5:c.A253T:p.I85F	.	409	645	453	15	0	483	0.27242	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.503	0.0700064426899	.	.	.	.	.	.	.	.	.	.	0.0001921	5	26028	rs75794788	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.25	0.48855	T	0.964	0.55854	D	0.865	0.63213	P	0.000000	0.84330	N	0.045107	1	0.81001	D	1.03	0.25572	L	0.6	0.53731	T	-3.56	0.72471	D	0.881	0.88909	-0.6507	0.62684	T	0.246	0.61530	T	10	0.75938225	0.76228	D	0.070006	0.70884	D	0.503	0.78538	0.497	0.58678	0.79712420435	0.79523	0.952589839956618	0.95242	2.43300071254	0.97277	0.815389215946	0.84320	D	0.550178	0.84755	D	0.238164	0.77489	D	0.10433	0.77195	D	0.969830691814423	0.68732	D	0.789321	0.42944	T	0.9161864	0.92879	0.80227107	0.88412	0.9161864	0.92880	0.80227107	0.88413	-16.606	0.99306	D	.	.	0.965	0.88639	P	.;.;.;.;.;.	.;.;.;.;.;.	5.439656	0.90921	32	0.9869222858790262	0.44780	0.95041	0.63223	D	AEFDGBCI	0.932153	0.92207	D	0.318344020359099	0.57088	3.875162	0.3071809800043	0.55960	3.758966	0.999999998494387	0.74766	0.722319	0.85440	0	0.633656	0.55848	0	0.698795	0.65105	0	0.711	0.71501	0	.	.	4.94	3.79	0.42757	7.961000	0.87447	6.071000	0.53257	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.1374:0.0:0.0:0.8626	11.226	0.48116	925	0.17918	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;.;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain;D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3182	1090.65	204	chr10	125003065	.	T	A	1090.65	.	AC=7;AF=0.318;AN=22;BaseQRankSum=-1.972;DP=2662;ExcessHet=2.9153;FS=12.857;InbreedingCoeff=-0.408;MLEAC=10;MLEAF=0.455;MQ=56.85;MQRankSum=-5.599;QD=1.45;ReadPosRankSum=1.2;SOR=2.05	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:84,11:95:99:0|1:125003062_T_A:128,0,3474:125003062	4	0	7	8
chr10	127444196	127444196	C	T	exonic	DOCK1	.	nonsynonymous SNV	DOCK1:NM_001377560:exon42:c.C4475T:p.S1492L,DOCK1:NM_001377554:exon48:c.C5114T:p.S1705L,DOCK1:NM_001377556:exon48:c.C5072T:p.S1691L,DOCK1:NM_001377558:exon48:c.C5060T:p.S1687L,DOCK1:NM_001377546:exon49:c.C5210T:p.S1737L,DOCK1:NM_001377547:exon49:c.C5204T:p.S1735L,DOCK1:NM_001377548:exon49:c.C5183T:p.S1728L,DOCK1:NM_001377550:exon49:c.C5168T:p.S1723L,DOCK1:NM_001377553:exon49:c.C5147T:p.S1716L,DOCK1:NM_001290223:exon50:c.C5330T:p.S1777L,DOCK1:NM_001380:exon50:c.C5267T:p.S1756L,DOCK1:NM_001377543:exon51:c.C5429T:p.S1810L,DOCK1:NM_001377544:exon51:c.C5303T:p.S1768L	.	426	1091	5	0	0	5	0.00228624	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.220	.	0.0056	0.00479233	0.0100	0.0021	0.0065	0	0.0130	0.0143	0.0035	0.0034	0.0065588	1014	154602	rs41314432	0.0074	0.0074	0.0076	0.0072	0.0081	0.0073	0.0072	0.0080	0.0079	0.0011	0.0046	0.0102	2.544e-05	0.0116	0.0042	0.0081	0.0061	0.0030	0.0056	0.0056	0.0056	0.0056	0.0075	0.0053	0.0052	0.0070	0.0068	0.0016	0	0.0056	0.0144	0	0.0103	0	0.0075	0.0071	0.0029	0.12	0.27904	T	0.016	0.60972	D	0.994	0.66517	D	0.921	0.65636	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.855	0.82945	M	3.83	0.03702	T	-1.47	0.35991	N	0.686	0.69213	-1.0701	0.09391	T	0.017	0.06855	T	10	0.007295072	0.00166	T	.	.	.	0.220	0.51569	.	.	0.808986398115	0.80719	0.42786952484670565	0.42703	0.521547162058	0.49923	0.644025623798	0.59136	T	0.299598	0.67212	T	-0.263683	0.12472	T	-0.145	0.59683	T	0.0380534300237087	0.03341	T	0.937406	0.76468	D	0.15551768	0.35145	0.1430018	0.34001	0.18044944	0.39166	0.1430018	0.34000	-6.055	0.46737	T	.	.	0.147	0.42302	B	.;.	.;.	3.994214	0.58813	24.0	0.99908814149739777	0.97875	0.98377	0.82158	D	AEFDBI	0.856697	0.77397	D	0.546863735955575	0.69891	5.421912	0.499922273781699	0.67986	5.158095	0.999999999460723	0.74766	0.706548	0.73137	0	0.573888	0.26702	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.72	4.72	0.59248	6.927000	0.75657	7.538000	0.60033	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.480000	0.28565	0.0:1.0:0.0:0.0	17.896	0.88806	556	0.71678	.;.	.	.	.	.	.	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	0.007553	0.010101	0.008152	0.002924	0.000000	0.000000	0.009146	0.007576	0.02632	2126.33	34	chr10	127444196	.	C	T	2126.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=858;ExcessHet=0;FS=4.177;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=-0.42;SOR=0.904	GT:AD:DP:GQ:PL	0/1:96,90:186:99:2140,0,2144	18	0	1	0
chr11	1095985	1095985	T	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1370553972	2.74e-05	7.095e-05	1.851e-05	3.655e-05	6.294e-05	1.989e-05	1.761e-05	1.796e-05	1.525e-05	0	6.294e-05	0	0	3.276e-05	0	2.581e-05	5.713e-05	4.282e-05	0.0005	0.0013	0.0006	0.0004	0.0008	0.0004	0.0003	0.0002	0.0002	0.0005	0	0.0005	0.0014	0.0008	0.0015	0	0.0004	0.0015	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	700.33	225	chr11	1095985	.	T	C	700.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.06;DP=3224;ExcessHet=0;FS=52.922;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.7;MQRankSum=-11.64;QD=2.85;ReadPosRankSum=-5.722;SOR=3.67	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:212,34:246:99:0|1:1095948_C_G:714,0,8801:1095948	18	0	1	0
chr11	1095988	1095988	A	C	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1364549576	6.333e-05	0.0008	4.617e-05	8.105e-05	0.0004	5.192e-05	4.749e-05	0.0002	0.0002	0.0003	0.0004	4.386e-05	0.0001	0.0001	0	4.45e-05	3.811e-05	7.277e-05	0.0012	0.0041	0.0011	0.0014	0.0037	0.0010	0.0009	0.0020	0.0016	0.0021	0	0.0037	0.0008	0.0032	0.0023	0	0.0005	0.0018	0.0009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	907.33	225	chr11	1095988	.	A	C	907.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.68;DP=3230;ExcessHet=0;FS=47.876;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.65;MQRankSum=-12.28;QD=3.6;ReadPosRankSum=-6.27;SOR=3.195	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:213,39:252:99:0|1:1095948_C_G:921,0,8828:1095948	18	0	1	0
chr11	1096003	1096003	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1219021202	2.945e-05	4.76e-05	2.827e-05	3.064e-05	7.393e-05	2.017e-05	1.728e-05	1.617e-05	1.334e-05	5.237e-05	3.24e-05	5.34e-05	7.393e-05	7.469e-05	0	2.588e-05	5.156e-05	0	4.623e-05	8.097e-05	2.929e-05	6.505e-05	6.58e-05	1.227e-05	6.4e-06	1.009e-05	3.77e-06	6.58e-05	0	0	0	0	0	0	6.093e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	1947.58	249	chr11	1096003	.	C	A	1947.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=8.42;DP=3789;ExcessHet=0;FS=37.651;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=56.77;MQRankSum=-12.34;QD=6.93;ReadPosRankSum=-5.558;SOR=2.38	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:217,64:281:99:0|1:1095948_C_G:1959,0,8921:1095948	13	0	1	5
chr11	1096004	1096004	C	T	exonic	MUC2	.	unknown	UNKNOWN	.	519	1002	0	1	0	2	0.000997009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1488834233	3.054e-05	3.576e-05	2.394e-05	3.712e-05	8.565e-05	2.033e-05	1.698e-05	2.897e-05	1.745e-05	6.59e-05	0	6.122e-05	3.947e-05	8.028e-05	0	2.319e-05	3.047e-05	8.565e-05	1.917e-05	1.374e-05	0	4.04e-05	8.807e-05	0	0	.	.	8.807e-05	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	2055.58	249	chr11	1096004	.	C	T	2055.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=5.17;DP=3791;ExcessHet=0;FS=36.721;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=56.8;MQRankSum=-12;QD=7.26;ReadPosRankSum=-5.378;SOR=2.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,68:283:99:0|1:1095948_C_G:2067,0,8816:1095948	13	0	1	5
chr11	1096006	1096006	A	G	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1314453956	0.0002	0.0006	0.0002	0.0001	0.0004	0.0001	0.0001	0.0002	0.0002	0.0002	0.0004	0.0002	0.0002	9.74e-05	0	0.0001	0.0004	2.843e-05	0.0005	0.0021	0.0003	0.0007	0.0027	0.0003	0.0002	0.0012	0.0008	0.0007	0	0.0027	0	0	0	0	0.0003	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	2320.58	249	chr11	1096006	.	A	G	2320.58	.	AC=1;AF=0.036;AN=28;BaseQRankSum=2.46;DP=3847;ExcessHet=0;FS=19.42;InbreedingCoeff=-0.1014;MLEAC=1;MLEAF=0.036;MQ=56.52;MQRankSum=-12.07;QD=7.92;ReadPosRankSum=-6.051;SOR=1.6	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:215,78:293:99:0|1:1095948_C_G:2332,0,8786:1095948	13	0	1	5
chr11	1096155	1096155	C	0	exonic	MUC2	.	.	.	.	456	828	3	1	234	239	0.00301023	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2647	1368.84	440	chr11	1096155	.	C	*	1368.84	.	AC=9;AF=0.265;AN=34;BaseQRankSum=2.27;DP=8782;ExcessHet=6.9875;FS=1.819;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.294;MQ=55.63;MQRankSum=-1.462;QD=0.48;ReadPosRankSum=-6.177;SOR=0.831	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:292,93:385:99:.:.:3017,0,11625:.	8	0	9	2
chr11	1096168	1096168	G	0	exonic	MUC2	.	.	.	.	1	110	14	0	101	115	0.0598291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2632	2015.37	440	chr11	1096168	.	G	*	2015.37	.	AC=10;AF=0.263;AN=38;BaseQRankSum=1.61;DP=9016;ExcessHet=8.9063;FS=1.149;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.263;MQ=55.65;MQRankSum=2.2;QD=0.58;ReadPosRankSum=-1.711;SOR=0.808	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:292,93:385:99:.:.:3017,0,11625:.	9	0	10	0
chr11	1096170	1096212	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	0	exonic	MUC2	.	.	.	.	1	116	21	0	88	109	0.083004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	685.62	440	chr11	1096170	.	TGACCCCAACCCCAACACCCACCGGCACACAGACCCCAACCAC	*	685.62	.	AC=9;AF=0.25;AN=36;BaseQRankSum=2.47;DP=8861;ExcessHet=6.9875;FS=1.838;InbreedingCoeff=-0.3818;MLEAC=9;MLEAF=0.25;MQ=57.05;MQRankSum=-2.059;QD=0.2;ReadPosRankSum=1.49;SOR=0.838	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:292,93:385:99:.:.:3017,0,11625:.	9	0	9	1
chr11	1096211	1096211	A	0	exonic	MUC2	.	.	.	.	606	732	15	0	169	184	0.010142	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.375	3229.97	460	chr11	1096211	.	A	*	3229.97	.	AC=6;AF=0.375;AN=16;BaseQRankSum=-0.565;DP=7074;ExcessHet=4.3158;FS=1.16;InbreedingCoeff=-0.551;MLEAC=9;MLEAF=0.563;MQ=57.59;MQRankSum=-3.357;QD=1.21;ReadPosRankSum=0.115;SOR=0.796	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:270,93:366:99:0|1:1096210_C_*:2926,0,11047:1096210	2	0	6	11
chr11	1096594	1096594	C	A	exonic	MUC2	.	unknown	UNKNOWN	.	524	971	22	3	2	30	0.0142132	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1449616483	0.0049	0.0047	0.0045	0.0054	0.0217	0.0048	0.0048	0.0208	0.0205	0.0007	0.0029	0.0078	0.0001	0.0020	0.0214	0.0039	0.0059	0.0217	0.0029	0.0034	0.0027	0.0032	0.0187	0.0027	0.0026	0.0150	0.0136	0.0007	0	0.0039	0.0058	0	0.0029	0.0248	0.0029	0.0074	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	1777.71	135	chr11	1096594	.	C	A	1777.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=0.553;DP=2574;ExcessHet=0;FS=3.502;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=57.45;MQRankSum=-0.896;QD=9.99;ReadPosRankSum=-0.186;SOR=0.465	GT:AD:DP:GQ:PL	0/1:97,81:178:99:1791,0,2166	17	0	1	1
chr11	1098767	1098771	CACGG	-	exonic	MUC2	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0007	0.0002	0.0002	0.0018	0.0002	0.0002	0.0014	0.0013	0.0007	0.0004	0.0007	0.0018	9.672e-05	0.0004	0.0001	0.0004	4.215e-05	0.0001	0.0009	0.0002	5.622e-05	0.0004	6.479e-05	5.017e-05	7.601e-05	5.563e-05	7.967e-05	0	8.734e-05	0	0.0004	0	0	0.0002	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.06667	236.17	272	chr11	1098766	.	CCACGG	C	236.17	.	AC=2;AF=0.067;AN=30;BaseQRankSum=-0.099;DP=3773;ExcessHet=0.1259;FS=2.931;InbreedingCoeff=0.0337;MLEAC=2;MLEAF=0.067;MQ=40.25;MQRankSum=-1.745;QD=0.75;ReadPosRankSum=1.08;SOR=0.467	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:126,8:134:94:1|0:1098716_A_G:94,0,5110:1098716	13	0	2	4
chr11	1099370	1099370	G	0	exonic	MUC2	.	.	.	.	923	13	249	324	13	910	0.971831	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2368	76561.1	246	chr11	1099370	.	G	*	76561.1	.	AC=9;AF=0.237;AN=38;BaseQRankSum=1.87;DP=5970;ExcessHet=0;FS=0;InbreedingCoeff=nan;MLEAC=9;MLEAF=0.237;MQ=52.86;MQRankSum=-0.915;QD=21.15;ReadPosRankSum=0.851;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,53:150:99:.:.:7396,3023,3519:.	10	0	9	0
chr11	1185292	1185292	G	A	exonic	MUC5AC	.	nonsynonymous SNV	MUC5AC:NM_001304359:exon31:c.G7147A:p.A2383T	.	457	1063	2	0	0	2	0.00093985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1343880081	5.782e-06	4.772e-06	8.515e-06	3.522e-06	0.0003	1.54e-06	4.3e-07	.	.	0	0	0	0	0	0.0003	0	7.07e-05	0	0	1.332e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	0.385	0.15746	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.07811	.	.	.	.	.	.	.	0.05926624	0.07098	T	.	.	.	.	.	.	.	.	.	0.08424292622584172	0.08358	.	.	.	.	.	0.027712	0.20236	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.486	0.50178	T	.	.	0.070	0.03588	B	.	.	-0.532775	0.01765	0.134	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.165000	0.00635	-7.785000	0.01086	-0.847000	0.02749	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	25128.9	624	chr11	1185292	.	G	A	25128.9	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-2.661;DP=16019;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.2063;MLEAC=3;MLEAF=0.15;MQ=59.94;MQRankSum=1.35;QD=12.77;ReadPosRankSum=1.21;SOR=0.71	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:491,531:1022:99:0|1:1185292_G_A:13384,0,18635:1185292	8	0	2	9
chr11	1247307	1247307	C	T	exonic	MUC5B	.	nonsynonymous SNV	MUC5B:NM_002458:exon31:c.C10427T:p.S3476L	.	436	1084	2	0	0	2	0.000921659	.	.	.	3377654	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.016	0.000670523935588	0.0009	0.000998403	0.0021	0.0013	0.0010	0	0.0002	0.0034	0.0011	6.058e-05	0.0006531	17	26028	rs200237369	0.0011	0.0046	0.0011	0.0010	0.0013	0.0010	0.0010	0.0012	0.0012	0.0007	0.0004	0.0003	5.038e-05	0.0002	0.0005	0.0013	0.0007	6.964e-05	0.0014	0.0027	0.0015	0.0013	0.0020	0.0013	0.0012	0.0017	0.0016	0.0015	0.0033	0.0007	0	0	0.0003	0	0.0020	0.0005	0.0002	0.002	0.72154	D	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	0.345	0.11182	N	2.06	0.20523	T	-0.5	0.15782	N	0.054	0.02559	-1.0133	0.25880	T	0.034	0.14639	T	9	0.008140892	0.00185	T	6.71E-4	0.00383	T	0.016	0.02506	.	.	0.043077524339	0.03247	0.3778921272455703	0.37704	.	.	0.291973948479	0.09209	T	0.019382	0.15452	T	-0.608035	0.00130	T	-0.691729	0.06289	T	0.0188476063997962	0.00595	T	0.453055	0.12870	T	0.04009491	0.05660	0.055800963	0.09854	0.04009491	0.05660	0.055800963	0.09853	-9.23	0.69165	D	.	.	0.126	0.26794	B	.	.	0.558156	0.09265	6.049	0.60519443585822308	0.06483	0.00826	0.03330	N	AEFI	0.040760	0.06108	N	-1.51925413910876	0.01723	0.07542334	-1.69741881414829	0.01149	0.051674	7.3503208821387E-4	0.07723	0.553676	0.25195	0	0.588015	0.36545	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.16	-2.33	0.06340	-0.639000	0.05543	-6.979000	0.01259	-1.530000	0.00994	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.3952:0.3367:0.268	3.873	0.08548	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	0.001656	0.000000	0.001362	0.004167	0.000000	0.008772	0.000000	0.000000	0.05263	3810.83	90	chr11	1247307	.	C	T	3810.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=4.19;DP=2232;ExcessHet=0.119;FS=2.224;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=56.89;MQRankSum=7.09;QD=10.36;ReadPosRankSum=1.45;SOR=0.76	GT:AD:DP:GQ:PL	0/1:137,64:201:99:1501,0,5063	17	0	2	0
chr11	4653052	4653052	A	G	exonic	OR51E1	.	nonsynonymous SNV	OR51E1:NM_152430:exon2:c.A526G:p.I176V	.	433	995	91	3	0	97	0.0464782	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	.	0.0028	0.0115815	0.0098	0.0006	0.0034	0	0.0002	0.0041	0.0100	0.0547	0.0085704	1325	154602	rs61746313	0.0051	0.0051	0.0035	0.0068	0.0518	0.0050	0.0050	0.0505	0.0500	0.0005	0.0027	0.0085	0.0002	5.617e-05	0.0307	0.0019	0.0070	0.0518	0.0039	0.0039	0.0032	0.0046	0.0496	0.0036	0.0035	0.0445	0.0425	0.0005	0.0011	0.0058	0.0086	0.0004	0.0003	0.0136	0.0028	0.0057	0.0496	1.0	0.00964	T	1.0	0.01155	T	.	.	.	.	.	.	0.140478	0.18308	N	0.501168	1	0.08975	N	.	.	.	1.29	0.35775	T	0.38	0.03579	N	0.023	0.00407	-0.9871	0.33323	T	0.033	0.14029	T	10	0.001768142	0.00023	T	.	.	.	0.095	0.27398	.	.	0.0297737177859	0.01360	0.12332486038305565	0.12258	0.105741972977	0.11956	0.271344333887	0.06317	T	.	.	.	-0.722216	0.00027	T	-0.770713	0.02744	T	0.00988813361863609	0.00131	T	0.357364	0.08134	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.02894	B	.	.	0.262711	0.06410	2.879	0.16601044500135223	0.00451	0.05363	0.11223	N	AEFBI	0.114271	0.22514	N	-1.06097716116596	0.07374	0.3423423	-0.968385012516924	0.10500	0.5292187	0.00349446597818093	0.10145	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.98	3.87	0.43823	-0.128000	0.10508	.	.	0.756000	0.94297	0.000000	0.06391	0.000000	0.08366	0.739000	0.35404	0.7307:0.0:0.2692:0.0	5.953	0.18491	814	0.42100	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.019134	0.000000	0.009511	0.014620	0.000000	0.008621	0.033537	0.045455	0.1316	10144.4	168	chr11	4653052	.	A	G	10144.4	.	AC=5;AF=0.132;AN=38;BaseQRankSum=1.83;DP=2413;ExcessHet=1.3;FS=0.524;InbreedingCoeff=-0.1515;MLEAC=5;MLEAF=0.132;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=0.444;SOR=0.745	GT:AD:DP:GQ:PL	0/1:115,92:207:99:2341,0,2911	14	0	5	0
chr11	5351792	5351792	C	G	exonic	OR51B6	.	nonsynonymous SNV	OR51B6:NM_001004750:exon1:c.C285G:p.C95W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.0559336047313	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0024	0.0093	0.0026	0.0022	0.0029	0.0023	0.0023	0.0028	0.0028	0.0027	6.717e-05	0.0009	0.0002	1.873e-05	0.0012	0.0029	0.0019	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000016	0.62929	D	0.000000	1	0.81001	D	4.81	0.99662	H	6.65	0.00510	T	-10.89	0.99244	D	0.807	0.80278	-1.1620	0.00709	T	0.013	0.05033	T	10	0.9621227	0.95635	D	0.055934	0.66418	D	0.313	0.63482	0.748	0.87905	0.527045900269	0.52351	0.471107557204946	0.47029	0.0116871865332	0.01096	0.339552879333	0.16371	T	0.119847	0.44167	T	0.113068	0.65668	D	-0.0753619	0.65240	T	0.99993371963501	0.99782	D	0.909809	0.68064	D	0.97552437	0.98751	0.92103964	0.96471	0.97552437	0.98751	0.92103964	0.96472	-8.765	0.66172	D	.	.	0.343	0.56118	A	.	.	2.116618	0.26937	17.29	0.98967027029080845	0.49442	0.39672	0.26265	N	AEFBI	0.767818	0.70356	D	0.108662788856825	0.46867	2.920579	-0.159160573312792	0.33057	1.887009	0.0102554648337644	0.11993	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.01	2.16	0.26663	-0.170000	0.09886	.	.	-1.712000	0.00741	0.001000	0.13787	0.000000	0.08366	0.014000	0.10232	0.0:0.6705:0.0:0.3295	8.371	0.31576	861	0.33516	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3214	1427.75	152	chr11	5351792	.	C	G	1427.75	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-4.584;DP=3027;ExcessHet=5.3738;FS=255.187;InbreedingCoeff=-0.44;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=-0.039;SOR=11.794	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:134,26:177:99:.:.:192,0,4893:.	5	0	9	5
chr11	5440733	5440733	G	A	exonic	OR51I1	.	nonsynonymous SNV	OR51I1:NM_001005288:exon1:c.C782T:p.S261F	.	429	1086	7	0	0	7	0.00321248	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	.	0.0056	0.00519169	0.0016	0.0163	0.0005	0	0	5.997e-05	0.0033	0.0004	0.0014877	230	154602	rs61737027	0.0005	0.0005	0.0006	0.0005	0.0182	0.0005	0.0005	0.0170	0.0166	0.0182	0.0006	0	0	0	0.0002	2.069e-05	0.0010	0.0004	0.0049	0.0049	0.0049	0.0050	0.0175	0.0046	0.0045	0.0164	0.0160	0.0175	0	0.0008	0	0	0	0.0034	1.47e-05	0.0033	0.0010	0.0	0.91255	D	0.141	0.33442	T	0.999	0.77913	D	0.998	0.88582	D	0.001112	0.40219	N	0.113088	0.66032	0.30455	N	1.555	0.39373	L	8.72	0.00098	T	-5.39	0.85027	D	0.225	0.25253	-0.7136	0.59776	T	0.001	0.00222	T	10	0.004553467	0.00094	T	.	.	.	0.147	0.38986	.	.	0.346085882481	0.34212	0.24759915096614962	0.24673	0.0110850897619	0.01030	0.293880045414	0.09492	T	0.009705	0.08820	T	-0.560484	0.00252	T	-0.562937	0.16103	T	0.0553529289853593	0.06416	T	0.865313	0.56401	D	0.6611537	0.75960	0.6930597	0.81933	0.6611537	0.75962	0.6930597	0.81934	-8.643	0.65372	D	.	.	0.515	0.65243	A	.	.	4.159961	0.62465	24.5	0.99797212163985238	0.88194	0.18773	0.20396	N	AEFGBHCI	0.074164	0.14857	N	0.399713973490191	0.61406	4.341359	0.34801675693454	0.58389	4.009034	0.936566312919239	0.27260	0.525926	0.21836	0	0.615948	0.52940	0	0.573888	0.23631	0	0.584449	0.35598	0	.	.	5.47	5.47	0.80345	1.564000	0.35983	.	.	0.650000	0.52971	0.008000	0.17931	0.834000	0.27239	0.205000	0.22041	0.081:0.0:0.919:0.0	12.485	0.55207	680	0.59965	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	0.001007	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	2386.33	37	chr11	5440733	.	G	A	2386.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.62;DP=837;ExcessHet=0;FS=1.939;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.55;ReadPosRankSum=1.21;SOR=0.593	GT:AD:DP:GQ:PL	0/1:73,91:164:99:2400,0,1814	18	0	1	0
chr11	6200107	6200107	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C884G:p.P295R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.400	0.0539634185351	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0021	0.0008	0.0006	0.0008	0.0006	0.0006	0.0008	0.0008	0.0007	2.238e-05	0.0002	0.0002	1.93e-05	0.0005	0.0008	0.0004	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.977	0.58535	D	0.689	0.53736	P	0.034271	0.24791	N	0.198413	0.569916	0.32285	D	5.07	0.99906	H	-0.08	0.63911	T	-8.12	0.96707	D	0.8	0.79599	0.418	0.89363	D	0.499	0.81057	T	10	0.9466181	0.93989	D	0.053963	0.65674	D	0.400	0.71401	0.737	0.86978	0.756562400578	0.75435	0.47455396514490583	0.47374	0.062343724922	0.06938	0.315678536892	0.12767	T	0.146888	0.48470	T	0.167539	0.70898	D	0.00288233	0.70523	D	0.995080590248108	0.86803	D	0.934707	0.75503	D	0.9610508	0.97386	0.9567188	0.98791	0.9610508	0.97386	0.9567188	0.98791	-12.124	0.85450	D	.	.	0.505	0.64808	A	.	.	2.707812	0.35383	19.88	0.97301537367121227	0.33280	0.95966	0.66930	D	AEFBI	0.511260	0.53997	D	0.208503100090119	0.51610	3.340933	0.082639564659092	0.43676	2.664457	0.99944430790802	0.39736	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	3.23	0.36150	4.053000	0.57139	3.151000	0.36525	-0.172000	0.11096	0.999000	0.42656	0.986000	0.30841	0.667000	0.33166	0.0:0.8582:0.0:0.1418	13.827	0.62847	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2105	690.21	161	chr11	6200107	.	C	G	690.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-6.451;DP=2311;ExcessHet=4.0268;FS=110.401;InbreedingCoeff=-0.2667;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=0.53;ReadPosRankSum=1.63;SOR=10.352	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,23:189:73:0|1:6200107_C_G:73,0,6499:6200107	11	0	8	0
chr11	6200109	6200109	C	G	exonic	OR52W1	.	nonsynonymous SNV	OR52W1:NM_001005178:exon1:c.C886G:p.L296V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.088	0.0114858743224	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.313	0.13879	T	0.419	0.14158	T	0.911	0.50336	P	0.158	0.34617	B	0.003626	0.34687	N	0.000000	0.905535	0.36277	D	0.41	0.12415	N	1.07	0.39586	T	0.43	0.03297	N	0.052	0.02366	-0.9765	0.35794	T	0.081	0.32090	T	10	0.1060805	0.19639	T	0.011486	0.29167	T	0.088	0.25558	0.397	0.42426	0.207176502487	0.20327	0.04900367529630378	0.04843	0.0233216950399	0.02366	0.204009205103	0.00582	T	5.16E-4	0.00194	T	-0.253739	0.13642	T	-0.602255	0.12622	T	0.502938449382782	0.32737	D	0.70483	0.31518	T	0.12892555	0.30127	0.11809379	0.28508	0.12892555	0.30127	0.11809379	0.28508	-3.839	0.21388	T	.	.	0.096	0.15385	B	.	.	2.102681	0.26757	17.23	0.99468787433388461	0.66207	0.36052	0.25444	N	AEFBI	0.406343	0.47887	N	-0.0291148856449301	0.40540	2.409298	-0.00557001676917808	0.39462	2.340232	0.999715313907442	0.42101	0.428477	0.06694	0	0.547309	0.14657	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.11	5.11	0.69188	-0.358000	0.07692	0.729000	0.21072	0.599000	0.40250	0.000000	0.06391	0.185000	0.23452	0.633000	0.32236	0.1663:0.8337:0.0:0.0	13.517	0.61000	665	0.61472	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2368	1154.82	35	chr11	6200109	.	C	G	1154.82	.	AC=9;AF=0.237;AN=38;BaseQRankSum=-6.448;DP=2227;ExcessHet=5.3738;FS=120.687;InbreedingCoeff=-0.3103;MLEAC=9;MLEAF=0.237;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.45;SOR=10.85	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:166,23:189:73:0|1:6200107_C_G:73,0,6499:6200107	10	0	9	0
chr11	6544228	6544228	G	A	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon19:c.G3736A:p.A1246T	.	423	1093	6	0	0	6	0.00273723	.	.	.	724593	DNHD1-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.035	0.0114797969781	0.0028	0.00219649	0.0051	0.0010	0	0	0	0.0024	0	0.0096	0.001229	190	154602	rs186978440	0.0040	0.0039	0.0040	0.0041	0.0101	0.0040	0.0039	0.0095	0.0093	0.0006	0.0004	0.0029	2.798e-05	0.0006	0.0012	0.0042	0.0023	0.0101	0.0024	0.0024	0.0024	0.0023	0.0068	0.0022	0.0021	0.0050	0.0044	0.0009	0	0.0009	0.0026	0.0002	0.0005	0	0.0038	0.0009	0.0068	1.0	0.00964	T	0.065	0.44702	T	0.0	0.02946	B	0.006	0.12133	B	.	.	.	.	0.993171	0.23759	N	-1.01	0.01154	N	0.15	0.60734	T	1.22	0.01051	N	0.079	0.05414	-1.0125	0.26133	T	0.091	0.34901	T	9	0.005279094	0.00115	T	0.01148	0.29147	T	0.035	0.08770	.	.	0.210429274316	0.20668	0.037799768222473155	0.03725	0.114439556271	0.12903	0.273092210293	0.06548	T	0.033322	0.22864	T	-0.613467	0.00121	T	-0.644584	0.09339	T	0.00320498266328223	0.00034	T	0.475952	0.14261	T	0.026946446	0.01819	0.06689118	0.13764	0.026946446	0.01819	0.06689118	0.13764	-3.495	0.16361	T	.	.	0.065	0.01960	B	.;.	.;.	0.712969	0.10821	7.500	0.92915229743231609	0.22475	0.11544	0.16704	N	AEFBI	0.025361	0.01725	N	-0.908481829039587	0.10642	0.5095624	-0.775321889933573	0.15101	0.7925385	6.22264173754198E-5	0.04366	0.615465	0.37627	0	0.653731	0.59785	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	5.09	0.28	0.14934	-0.003000	0.12836	0.819000	0.21831	-0.116000	0.14526	0.989000	0.36753	0.979000	0.30280	0.975000	0.56047	0.5813:0.0:0.4187:0.0	7.126	0.24649	467	0.78285	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	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	813.33	33	chr11	6544228	.	G	A	813.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.034;DP=730;ExcessHet=0;FS=0.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.17;ReadPosRankSum=-0.815;SOR=0.82	GT:AD:DP:GQ:PL	0/1:45,35:80:99:827,0,1117	18	0	1	0
chr11	6547636	6547636	C	T	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon21:c.C6697T:p.R2233C	.	434	1071	15	2	0	19	0.00879223	.	.	.	1670601	not_provided|DNHD1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.105	.	0.0064	0.00419329	0.0130	0.0079	0.0029	0	0	0.0066	0.0130	0.0336	0.0023997	371	154602	rs117939157	0.0065	0.0062	0.0061	0.0068	0.0204	0.0063	0.0063	0.0195	0.0192	0.0081	0.0013	0.0067	0.0001	0.0007	0.0036	0.0061	0.0048	0.0204	0.0058	0.0058	0.0057	0.0058	0.0154	0.0054	0.0053	0.0126	0.0115	0.0088	0	0.0017	0.0060	0.0002	0.0007	0.0068	0.0055	0.0024	0.0154	0.164	0.23360	T	0.004	0.74150	D	0.99	0.63424	D	0.53	0.48544	P	0.866569	0.07149	N	1.062860	0.968442	0.25801	N	2.35	0.67516	M	1.63	0.28002	T	-1.64	0.39314	N	0.213	0.23758	-1.0531	0.13547	T	0.053	0.22501	T	10	0.004265189	0.00085	T	.	.	.	0.105	0.29889	.	.	0.398283496042	0.39440	0.16205055164973825	0.16126	0.420025717159	0.42536	0.223574578762	0.01527	T	0.011186	0.10013	T	-0.501908	0.00558	T	-0.478137	0.24643	T	0.0237728193375252	0.01117	T	0.655434	0.26547	T	0.06109274	0.12611	0.042963356	0.05238	0.06109274	0.12611	0.042963356	0.05237	-4.18	0.26461	T	.	.	0.086	0.10642	B	.;.	.;.	2.216652	0.28284	17.75	0.99718684397666835	0.81914	0.47592	0.28017	N	AEFBI	0.114976	0.22625	N	-0.382220235524935	0.26102	1.422027	-0.482424820534155	0.22637	1.23058	0.00615243879697362	0.11143	0.67177	0.52595	0	0.702456	0.74545	0	0.658983	0.55881	0	0.567892	0.33627	0	.	.	6.17	2.92	0.32998	0.765000	0.26211	0.370000	0.17667	-0.218000	0.08083	0.505000	0.26994	0.023000	0.20922	0.001000	0.02609	0.1518:0.6028:0.1464:0.099	4.302	0.10372	473	0.77910	.;.	.	.	.	.	rs117939157	Likely benign	0	0	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	0.003529	0.005319	0.006667	0.000000	0.000000	0.000000	0.000000	0.011905	0.02632	610.33	36	chr11	6547636	.	C	T	610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.405;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.56;ReadPosRankSum=0.296;SOR=0.547	GT:AD:DP:GQ:PL	0/1:21,24:45:99:624,0,518	18	0	1	0
chr11	6564079	6564079	G	C	exonic	DNHD1	.	nonsynonymous SNV	DNHD1:NM_144666:exon31:c.G10239C:p.K3413N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2	563.21	93	chr11	6564079	.	G	C	563.21	.	AC=6;AF=0.2;AN=30;BaseQRankSum=-2.147;DP=1498;ExcessHet=2.0135;FS=208.676;InbreedingCoeff=-0.265;MLEAC=7;MLEAF=0.233;MQ=60;MQRankSum=0;QD=1.23;ReadPosRankSum=1.38;SOR=11.704	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:58,28:96:99:.:.:115,0,988:.	9	0	6	4
chr11	6892050	6892050	T	C	exonic	OR2D2	.	nonsynonymous SNV	OR2D2:NM_003700:exon1:c.A451G:p.S151G	.	434	1057	31	0	0	31	0.0144522	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.093	0.003817604036	0.0042	0.00179712	0.0040	0.0011	0.0033	0.0001	0.0020	0.0048	0.0055	0.0059	0.0038357	593	154602	rs74917712	0.0047	0.0047	0.0046	0.0048	0.0134	0.0046	0.0046	0.0110	0.0101	0.0008	0.0039	0.0093	2.519e-05	0.0019	0.0134	0.0049	0.0049	0.0062	0.0039	0.0039	0.0038	0.0040	0.0061	0.0036	0.0035	0.0051	0.0048	0.0010	0	0.0061	0.0104	0.0004	0.0018	0.0034	0.0053	0.0061	0.0050	0.132	0.26519	T	0.271	0.22291	T	0.784	0.44396	P	0.527	0.48453	P	0.000019	0.62929	D	0.000000	0.996695	0.22933	N	1	0.25136	L	1.24	0.36691	T	-3.59	0.69236	D	0.09	0.06854	-1.0621	0.11239	T	0.056	0.23677	T	10	0.009351373	0.00211	T	0.003818	0.08930	T	0.093	0.26882	.	.	0.667396578862	0.66459	0.22614904341023914	0.22529	0.0160720979478	0.01538	0.267553925514	0.05824	T	0.007197	0.06615	T	-0.551367	0.00286	T	-0.562996	0.16097	T	0.0497815433916849	0.05462	T	0.60064	0.22426	T	0.36737594	0.58390	0.2915325	0.55178	0.36737594	0.58390	0.2915325	0.55177	-4.217	0.26997	T	.	.	0.072	0.04316	B	.	.	2.830404	0.37313	20.5	0.99226097246895772	0.56057	0.10633	0.16084	N	AEFGBI	0.062217	0.11946	N	-0.0295373959221345	0.40522	2.407833	0.00228593108559329	0.39823	2.367003	0.0155712046616577	0.12730	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.12	5.12	0.69459	0.196000	0.16979	0.182000	0.15643	0.646000	0.52725	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.1719:0.0:0.0:0.8281	8.541	0.32551	502	0.75873	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	0.009063	0.000000	0.008152	0.008772	0.000000	0.025862	0.012195	0.007576	0.07895	8085.79	41	chr11	6892050	.	T	C	8085.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.734;DP=2158;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.305;SOR=0.674	GT:AD:DP:GQ:PL	0/1:106,106:212:99:2614,0,2832	16	0	3	0
chr11	7630993	7630993	A	G	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon7:c.A604G:p.T202A,PPFIBP2:NM_001256568:exon8:c.A697G:p.T233A,PPFIBP2:NM_001351857:exon9:c.A802G:p.T268A,PPFIBP2:NM_001351858:exon9:c.A802G:p.T268A,PPFIBP2:NM_001351859:exon9:c.A802G:p.T268A,PPFIBP2:NM_001351860:exon9:c.A826G:p.T276A,PPFIBP2:NM_001351861:exon9:c.A802G:p.T268A,PPFIBP2:NM_001351853:exon11:c.A1033G:p.T345A,PPFIBP2:NM_001351854:exon11:c.A1033G:p.T345A,PPFIBP2:NM_001351855:exon11:c.A1033G:p.T345A,PPFIBP2:NM_001351856:exon11:c.A1039G:p.T347A,PPFIBP2:NM_003621:exon11:c.A1033G:p.T345A,PPFIBP2:NM_001351862:exon12:c.A1033G:p.T345A	.	431	1090	1	0	0	1	0.000458505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	.	7.7e-05	0.00259585	0.0009	0	8.654e-05	0.0001	0	0	0.0011	0.0063	0.0007956	123	154602	rs147867678	0.0004	0.0004	0.0003	0.0006	0.0066	0.0004	0.0004	0.0061	0.0059	0	4.472e-05	0	0	0	0.0003	5.397e-06	0.0006	0.0066	0.0002	0.0002	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	0	0	0	0	0.0002	0	0	0	0.0005	0.0070	0.503	0.11550	T	0.86	0.03409	T	0.0	0.02946	B	0.0	0.01387	B	0.327261	0.04109	N	1.404700	1	0.08975	N	0.145	0.08828	N	-0.32	0.68181	T	-0.67	0.19297	N	0.098	0.08227	-0.9936	0.31670	T	0.051	0.21728	T	10	0.0060495734	0.00136	T	.	.	.	0.073	0.21317	.	.	0.538561335957	0.53506	0.1451735567604721	0.14440	0.0279714721971	0.02869	0.322181761265	0.13752	T	0.006638	0.06067	T	-0.538301	0.00343	T	-0.541864	0.18113	T	0.00323089880443248	0.00034	T	0.628437	0.24942	T	0.017939249	0.00317	0.020961206	0.00165	0.017939249	0.00317	0.020961206	0.00165	-2.641	0.07120	T	.	.	0.057	0.00553	B	.;.;.;.	.;.;.;.	-0.275780	0.02725	0.360	0.26378565490949096	0.01261	0.00547	0.02511	N	AEFBI	0.043224	0.06807	N	-1.15012711567626	0.05777	0.2642804	-1.28515461451502	0.04630	0.2188683	0.802211486884024	0.24206	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	-5.22	0.02592	-0.935000	0.04059	-0.488000	0.08877	-0.687000	0.04166	0.000000	0.06391	0.000000	0.08366	0.237000	0.22922	0.4975:0.0975:0.3062:0.0988	4.28	0.10274	839	0.37672	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001008	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1058.33	36	chr11	7630993	.	A	G	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.124;DP=683;ExcessHet=0;FS=1.998;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.34;ReadPosRankSum=0.626;SOR=0.599	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,29:69:99:0|1:7630993_A_G:1072,0,1530:7630993	18	0	1	0
chr11	7631009	7631009	A	C	exonic	PPFIBP2	.	nonsynonymous SNV	PPFIBP2:NM_001256569:exon7:c.A620C:p.E207A,PPFIBP2:NM_001256568:exon8:c.A713C:p.E238A,PPFIBP2:NM_001351857:exon9:c.A818C:p.E273A,PPFIBP2:NM_001351858:exon9:c.A818C:p.E273A,PPFIBP2:NM_001351859:exon9:c.A818C:p.E273A,PPFIBP2:NM_001351860:exon9:c.A842C:p.E281A,PPFIBP2:NM_001351861:exon9:c.A818C:p.E273A,PPFIBP2:NM_001351853:exon11:c.A1049C:p.E350A,PPFIBP2:NM_001351854:exon11:c.A1049C:p.E350A,PPFIBP2:NM_001351855:exon11:c.A1049C:p.E350A,PPFIBP2:NM_001351856:exon11:c.A1055C:p.E352A,PPFIBP2:NM_003621:exon11:c.A1049C:p.E350A,PPFIBP2:NM_001351862:exon12:c.A1049C:p.E350A	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.256	.	7.7e-05	0.00299521	0.0009	9.632e-05	8.658e-05	0.0001	0	0	0.0011	0.0063	0.0008215	127	154602	rs141555648	0.0004	0.0004	0.0003	0.0006	0.0065	0.0004	0.0004	0.0061	0.0059	2.988e-05	4.472e-05	0	0	0	0.0003	1.8e-06	0.0006	0.0065	0.0003	0.0003	0.0001	0.0004	0.0070	0.0002	0.0002	0.0052	0.0045	7.214e-05	0	0	0	0.0002	0	0	0	0.0005	0.0070	0.19	0.33418	T	0.534	0.14912	T	0.172	0.28767	B	0.034	0.22546	B	0.037385	0.24408	N	0.428519	0.686163	0.34701	D	1.935	0.51832	L	-0.41	0.69413	T	-0.97	0.25770	N	0.238	0.30800	-0.9008	0.47910	T	0.116	0.41120	T	10	0.0065229535	0.00148	T	.	.	.	0.256	0.56694	.	.	0.767332750182	0.76520	0.1872317281989996	0.18641	0.0535589195105	0.05910	0.362885415554	0.19805	T	0.006931	0.06354	T	-0.318942	0.06985	T	-0.226909	0.52069	T	0.0206220379021904	0.00762	T	0.813219	0.48193	T	0.05501827	0.10634	0.041320316	0.04671	0.05501827	0.10634	0.041320316	0.04670	-3.905	0.22377	T	.	.	0.086	0.16538	B	.;.;.;.	.;.;.;.	3.442841	0.47899	22.5	0.98058304436914734	0.37929	0.72268	0.35379	D	AEFBI	0.166364	0.29294	N	0.078326342974546	0.45453	2.801566	0.168502882648835	0.48130	3.033205	0.868863035036288	0.25374	0.706548	0.73137	0	0.724815	0.89359	0	0.653264	0.51672	0	0.567892	0.33627	0	.	.	6.17	5.05	0.67566	1.937000	0.39821	7.945000	0.75661	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.951000	0.49849	0.8826:0.0:0.1174:0.0	7.775	0.28199	839	0.37672	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001514	0.000000	0.000000	0.000000	0.000000	0.000000	0.003067	0.003788	0.02632	1014.33	36	chr11	7631009	.	A	C	1014.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.492;DP=676;ExcessHet=0;FS=0.979;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.36;ReadPosRankSum=0.85;SOR=0.626	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:35,27:62:99:0|1:7630993_A_G:1028,0,1382:7630993	18	0	1	0
chr11	10778867	10778867	G	A	exonic	CTR9	.	nonsynonymous SNV	CTR9:NM_001346279:exon24:c.G3212A:p.R1071K,CTR9:NM_014633:exon25:c.G3284A:p.R1095K	.	432	1083	7	0	0	7	0.00322135	.	.	.	935277	Predisposition_to_Wilms_tumor,_CTR9-related|not_provided	.|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.156	0.0144982354941	0.0002	0.000199681	0.0002	0	0.0002	0	0	0.0004	0	0	0.000207	32	154602	rs141434094	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0	0.0002	3.826e-05	0	1.872e-05	0	0.0002	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0007	0.0002	0.0001	0.0004	0.0003	0	0	0.0007	0	0	0	0	0.0004	0	0	0.334	0.12961	T	0.884	0.03187	T	0.841	0.46518	P	0.745	0.55870	P	0.000000	0.84330	D	0.044916	1	0.81001	D	1.525	0.38595	L	0.95	0.43279	T	-0.12	0.08809	N	0.33	0.37093	-1.0464	0.15418	T	0.113	0.40261	T	10	0.093266755	0.16492	T	0.014498	0.34657	T	0.156	0.40720	.	.	0.456461865991	0.45270	0.27371880974305096	0.27284	0.135726669683	0.15305	0.589054882526	0.51360	T	0.047186	0.27649	T	-0.349423	0.04763	T	-0.381117	0.35591	T	0.160974930325239	0.17943	T	0.690631	0.30012	T	0.20660912	0.42840	0.19757381	0.43546	0.20660912	0.42840	0.19757381	0.43545	-4.105	0.25364	T	.	.	0.071	0.03773	B	.	.	3.274452	0.44839	22.0	0.99264206114572895	0.57322	0.93889	0.59485	D	AEFDBHCIJ	0.681721	0.64498	D	0.29834465419715	0.56064	3.770742	0.399323738613922	0.61523	4.353607	1.0	0.98316	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.5	5.5	0.81386	4.921000	0.63096	9.913000	0.82443	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.717000	0.34675	0.0:0.0:1.0:0.0	19.391	0.94572	658	0.62094	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	2227.33	34	chr11	10778867	.	G	A	2227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.298;DP=772;ExcessHet=0;FS=0.604;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.65;ReadPosRankSum=1.39;SOR=0.633	GT:AD:DP:GQ:PL	0/1:62,90:152:99:2241,0,1382	18	0	1	0
chr11	17527313	17527313	G	A	exonic	USH1C	.	nonsynonymous SNV	USH1C:NM_001297764:exon5:c.C406T:p.R136W,USH1C:NM_005709:exon5:c.C406T:p.R136W,USH1C:NM_153676:exon5:c.C406T:p.R136W	Deafness, autosomal recessive 18A, Autosomal recessive;Usher syndrome, type 1C, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	326732	not_specified|Inborn_genetic_diseases|Usher_syndrome_type_1C|not_provided	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010171,MedGen:C1848604,OMIM:276904,Orphanet:231169,Orphanet:886|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.527	0.253939305336	7.7e-05	0.000199681	7.432e-05	9.653e-05	0	0.0001	0	0.0001	0	0	6.47e-05	10	154602	rs368903400	3.492e-05	3.557e-05	4.36e-05	2.615e-05	0.0005	2.699e-05	2.44e-05	0.0001	7.56e-05	8.961e-05	8.944e-05	0	0.0001	0	0.0005	2.158e-05	0.0001	4.637e-05	7.246e-05	7.22e-05	5.152e-05	9.439e-05	0.0003	3.981e-05	3.135e-05	8.893e-05	5.397e-05	2.415e-05	0	0.0003	0	0.0002	0	0	5.89e-05	0.0005	0	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	2.25	0.17761	T	-7.12	0.94729	D	0.932	0.95021	-0.8348	0.52989	T	0.137	0.45394	T	10	0.80008686	0.79423	D	0.253939	0.89231	D	0.527	0.80007	.	.	0.780577928845	0.77855	0.6958418196185627	0.69525	0.395326890561	0.40677	0.797374606133	0.81563	T	0.261734	0.63324	T	0.0745486	0.61396	D	0.105976	0.77305	D	0.697272658348083	0.40589	D	0.979502	0.96302	D	0.8228303	0.85411	0.8433234	0.91059	0.87615687	0.89355	0.8281613	0.90066	-10.871	0.80376	D	.	.	0.710	0.77631	P	.;.;.;.;.	.;.;.;.;.	5.969471	0.94217	34	0.99909138878715587	0.97875	0.96252	0.68237	D	AEFDBI	0.948221	0.95961	D	0.838487428185637	0.88443	9.58029	0.768163898963396	0.87509	9.246023	0.999727808109063	0.42220	0.646311	0.45356	0	0.563428	0.19063	0	0.645312	0.48771	0	0.564101	0.26826	0	.	.	5.13	4.16	0.48138	7.669000	0.82880	8.521000	0.77423	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:0.8411:0.1588	13.319	0.59862	740	0.53092	PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain;.;PDZ domain|PDZ domain|PDZ domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1103.33	33	chr11	17527313	.	G	A	1103.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.512;DP=731;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.4;ReadPosRankSum=0.194;SOR=0.639	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1117,0,807	18	0	1	0
chr11	30905098	30905098	G	A	exonic	DCDC1	.	nonsynonymous SNV	DCDC1:NM_020869:exon12:c.C1492T:p.R498W,DCDC1:NM_001367979:exon31:c.C4171T:p.R1391W	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.176	0.0287800271216	7.7e-05	.	6.079e-05	0.0003	0	0	0	1.581e-05	0.0011	0.0001	5.17e-05	8	154602	rs144668195	2.121e-05	2.121e-05	2.451e-05	1.788e-05	5.977e-05	1.52e-05	1.325e-05	1.583e-05	1.151e-05	5.977e-05	0	0	0	0	0	2.069e-05	3.314e-05	4.638e-05	5.253e-05	5.249e-05	5.14e-05	5.372e-05	9.625e-05	2.556e-05	1.829e-05	3.243e-05	1.91e-05	9.625e-05	0	0	0	0	0	0.0034	4.411e-05	0	0	.	.	.	0.001	0.83351	D	.	.	.	.	.	.	0.003156	0.35359	N	0.130642	0.995246	0.23338	N	.	.	.	1.21	0.37230	T	.	.	.	0.272	0.44283	-0.9404	0.42552	T	0.124	0.42715	T	9	0.12122041	0.22975	T	0.02878	0.51400	D	0.176	0.44373	.	.	0.391775403332	0.38787	0.22115270554143396	0.22030	.	.	0.204922646284	0.00614	T	.	.	.	-0.218055	0.18260	T	-0.271562	0.47661	T	0.206846207493344	0.20787	T	0.761924	0.38711	T	.	.	.	.	.	.	.	.	-5.918	0.45588	T	.	.	0.112	0.34470	B	.;.	.;.	2.173981	0.27707	17.55	0.99866593253317149	0.94457	0.24041	0.22269	N	AEFI	0.377375	0.46117	N	-0.222234482283471	0.32222	1.814919	-0.163276533106889	0.32901	1.876455	3.2443970149907E-5	0.03775	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.31	4.39	0.52211	0.497000	0.22222	1.982000	0.30038	0.676000	0.76740	0.268000	0.25027	0.909000	0.28100	0.036000	0.13842	0.088:0.0:0.7475:0.1645	7.369	0.25963	452	0.79239	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1913.33	35	chr11	30905098	.	G	A	1913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.08;DP=778;ExcessHet=0;FS=2.842;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.03;ReadPosRankSum=-0.772;SOR=0.943	GT:AD:DP:GQ:PL	0/1:79,80:159:99:1927,0,1787	18	0	1	0
chr11	31783430	31783430	G	C	exonic	ELP4	.	nonsynonymous SNV	ELP4:NM_019040:exon10:c.G1181C:p.S394T,ELP4:NM_001288725:exon11:c.G1323C:p.E441D	.	422	1070	30	0	0	30	0.0138249	.	.	.	693004	not_provided|ELP4-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.117	.	0.0057	0.00259585	0.0057	0.0011	0.0040	0.0005	0.0035	0.0060	0.0089	0.0121	0.0054656	845	154602	rs3026404	0.0064	0.0064	0.0062	0.0067	0.0137	0.0063	0.0063	0.0121	0.0119	0.0011	0.0038	0.0066	0.0006	0.0045	0.0137	0.0064	0.0061	0.0128	0.0048	0.0048	0.0045	0.0052	0.0112	0.0045	0.0044	0.0088	0.0080	0.0014	0.0252	0.0046	0.0055	0.0008	0.0055	0.0136	0.0065	0.0028	0.0112	.	.	.	.	.	.	0.939	0.52645	P	0.67	0.53116	P	.	.	.	.	0.940106	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	-0.9774	0.35593	T	0.112	0.40099	T	9	0.009358019	0.00211	T	.	.	.	0.117	0.32689	.	.	0.49118058892	0.48749	.	.	0.30824296967	0.33134	0.519372045994	0.41538	T	0.020801	0.16311	T	-0.266691	0.12128	T	-0.145471	0.59643	T	0.0189696561866066	0.00606	T	0.854215	0.54045	D	0.17102155	0.37712	0.2017196	0.44165	0.16778867	0.37196	0.2017196	0.44164	-3.624	0.18204	T	.	.	0.207	0.48188	B	.;.	.;.	3.742534	0.53604	23.4	0.99738626252320284	0.83337	0.99504	0.96829	D	AEFDIJ	0.897133	0.83896	D	0.521952656692334	0.68389	5.21055	0.554219415158907	0.71691	5.693676	0.998614749081728	0.37309	0.706298	0.61202	0	0.659464	0.62310	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.73	4.83	0.61880	7.465000	0.79922	8.656000	0.77953	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0686:0.0:0.9314:0.0	14.926	0.70528	374	0.84073	.;.	.	.	.	.	.	Likely benign	0	0	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	0.009567	0.005051	0.004076	0.014620	0.000000	0.017241	0.012195	0.018939	0.02632	1325.33	33	chr11	31783430	.	G	C	1325.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.911;DP=710;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.16;ReadPosRankSum=-0.019;SOR=0.798	GT:AD:DP:GQ:PL	0/1:35,47:82:99:1339,0,813	18	0	1	0
chr11	57796896	57796896	G	A	exonic	CTNND1	.	nonsynonymous SNV	CTNND1:NM_001085469:exon3:c.G557A:p.R186H,CTNND1:NM_001085463:exon4:c.G557A:p.R186H,CTNND1:NM_001085464:exon4:c.G557A:p.R186H,CTNND1:NM_001085465:exon4:c.G557A:p.R186H,CTNND1:NM_001085466:exon4:c.G557A:p.R186H,CTNND1:NM_001085467:exon4:c.G557A:p.R186H,CTNND1:NM_001085468:exon4:c.G557A:p.R186H,CTNND1:NM_001206890:exon4:c.G557A:p.R186H,CTNND1:NM_001085462:exon5:c.G860A:p.R287H,CTNND1:NM_001206883:exon5:c.G698A:p.R233H,CTNND1:NM_001206884:exon5:c.G698A:p.R233H,CTNND1:NM_001206886:exon5:c.G698A:p.R233H,CTNND1:NM_001206887:exon5:c.G698A:p.R233H,CTNND1:NM_001206888:exon5:c.G698A:p.R233H,CTNND1:NM_001085458:exon6:c.G860A:p.R287H,CTNND1:NM_001085459:exon6:c.G860A:p.R287H,CTNND1:NM_001085460:exon6:c.G860A:p.R287H,CTNND1:NM_001085461:exon6:c.G860A:p.R287H,CTNND1:NM_001206885:exon6:c.G860A:p.R287H,CTNND1:NM_001206889:exon6:c.G698A:p.R233H,CTNND1:NM_001206891:exon6:c.G698A:p.R233H,CTNND1:NM_001331:exon6:c.G860A:p.R287H	.	421	1072	28	1	0	30	0.0137994	.	.	.	3207144	CTNND1-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.526	.	0.0002	0.00239617	0.0016	0.0001	0.0007	0.0001	0	0.0005	0.0024	0.0109	0.0013583	210	154602	rs200914456	0.0009	0.0010	0.0006	0.0013	0.0105	0.0009	0.0009	0.0099	0.0097	6.005e-05	0.0005	0.0042	0	0	0.0056	0.0002	0.0014	0.0105	0.0006	0.0006	0.0004	0.0007	0.0120	0.0005	0.0004	0.0095	0.0086	9.621e-05	0	6.537e-05	0.0023	0.0002	0	0	0.0002	0.0005	0.0120	0.001	0.91255	D	0.127	0.92824	T	0.997	0.90584	D	0.884	0.88582	P	0.000000	0.84330	D	0.049271	0.999999	0.81001	D	2.305	0.65957	M	-1.36	0.83327	T	-2.12	0.71882	N	0.652	0.77601	0.450	0.89840	D	0.705	0.89849	D	10	0.008713067	0.00197	T	.	.	.	0.526	0.79947	.	.	0.893469137683	0.89241	0.7538686209710876	0.75333	1.21594706112	0.80967	0.727611362934	0.71158	T	0.036562	0.73026	T	0.0189001	0.54234	T	0.262334	0.86201	D	0.0432667433749685	0.04286	T	0.963804	0.88413	D	0.3429911	0.56517	0.32258293	0.58197	0.3187861	0.54537	0.37006184	0.62263	-3.71	0.26795	T	.	.	0.500	0.64763	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	5.411063	0.90574	31	0.99957276297572628	0.99981	0.99859	0.99866	D	AEFDBI	0.953844	0.97048	D	0.895609814481584	0.91543	10.93695	0.903831306916432	0.95736	13.91645	0.999999999999999	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.92	5.92	0.95557	9.099000	0.93565	8.635000	0.77869	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:1.0:0.0	19.928	0.97108	378	0.83833	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.005035	0.000000	0.002717	0.005848	0.000000	0.000000	0.009146	0.007576	0.07895	4635.79	37	chr11	57796896	.	G	A	4635.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.504;DP=989;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.88;ReadPosRankSum=0.731;SOR=0.7	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1459,0,1431	16	0	3	0
chr11	59093952	59093952	G	T	exonic	GLYATL1B	.	nonsynonymous SNV	GLYATL1B:NM_001355566:exon4:c.G332T:p.G111V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs563991825	2.257e-05	2.314e-05	1.656e-05	2.758e-05	0.0003	1.203e-05	9.5e-06	1.581e-05	8.38e-06	0	0	0	0	0	0.0003	1.933e-05	6.909e-05	5.96e-05	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	.	.	.	0.538	0.09829	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.174	0.18649	.	.	.	.	.	.	.	0.09707844	0.17459	T	.	.	.	.	.	.	.	.	.	0.04695298924126916	0.04638	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.662434	0.27137	T	0.041321546	0.06064	0.10214707	0.24475	0.041321546	0.06063	0.10214707	0.24475	-1.105	0.01123	T	.	.	0.188	0.40489	B	.	.	0.729875	0.10990	7.652	0.43266887562818179	0.03246	0.00633	0.02779	N	AEFGI	.	.	.	.	.	.	.	.	.	0.905092077586192	0.26195	0.163922	0.03765	0	0.156668	0.03792	0	0.10224	0.03073	0	0.075334	0.01956	0	0.0506562	0.09881	1.96	-1.32	0.08721	-0.532000	0.06252	-0.527000	0.08657	-0.287000	0.06331	0.000000	0.06391	0.000000	0.08366	0.052000	0.15357	0.3613:0.0:0.3737:0.265	1.951	0.03163	628	0.65206	Glycine N-acyltransferase, 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	.	.	.	.	.	.	.	.	0.02632	1115.33	41	chr11	59093952	.	G	T	1115.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.617;DP=765;ExcessHet=0;FS=2.523;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.95;MQRankSum=-2.043;QD=10.72;ReadPosRankSum=-1.279;SOR=0.96	GT:AD:DP:GQ:PL	0/1:54,50:104:99:1129,0,1290	18	0	1	0
chr11	59172708	59172708	C	T	exonic	DTX4	.	nonsynonymous SNV	DTX4:NM_015177:exon1:c.C113T:p.P38L	.	.	.	.	.	.	.	.	.	.	.	3431033	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.071	0.134311941727	.	.	0.0001	0	0	0	0	0.0001	0	0.0003	5.82e-05	9	154602	rs765272910	3.86e-05	3.899e-05	3.426e-05	4.298e-05	0.0007	3.048e-05	2.74e-05	0.0002	0.0002	0	0	0	0	0	0.0007	1.984e-05	6.687e-05	0.0003	4.614e-05	4.598e-05	2.576e-05	6.749e-05	0.0004	2.115e-05	1.531e-05	7.299e-05	3.032e-05	0	0	0	0	0	0	0	7.367e-05	0	0.0004	0.289	0.15047	T	0.621	0.07419	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	0.999982	0.81001	D	2.045	0.56016	M	1.03	0.40469	T	-1.94	0.45042	N	0.136	0.13341	-1.0978	0.04367	T	0.056	0.23413	T	9	0.059616238	0.07195	T	0.134312	0.81673	D	0.071	0.20720	0.525	0.62967	0.382940591053	0.37911	0.7394737173334882	0.73892	0.575609084171	0.53551	0.921503186226	0.98436	D	0.05249	0.29175	T	-0.476988	0.00770	T	-0.602927	0.12566	T	0.0509946439815075	0.05673	T	0.752425	0.37456	T	0.09265665	0.21743	0.17561732	0.40039	0.09265665	0.21743	0.17561732	0.40039	-5.328	0.40219	T	.	.	0.232	0.46447	B	.	.	3.977069	0.58442	24.0	0.98651950597633342	0.44206	0.19893	0.20836	N	ALL	0.116386	0.22845	N	-0.745359071149468	0.14759	0.7379818	-0.666992742836865	0.17789	0.9474105	0.999999999969643	0.74766	0.455138	0.09556	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56751	0.32155	0	.	.	4.13	3.21	0.35933	1.681000	0.37234	6.993000	0.57168	0.522000	0.23927	0.118000	0.23139	1.000000	0.68203	0.996000	0.76049	0.0:0.8944:0.0:0.1056	9.345	0.37262	618	0.66225	WWE domain|WWE domain|WWE domain, subgroup	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001040	0.000000	0.001359	0.003521	0.000000	0.000000	0.000000	0.000000	0.02632	1127.33	48	chr11	59172708	.	C	T	1127.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.228;DP=732;ExcessHet=0;FS=0.82;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.96;ReadPosRankSum=0.914;SOR=0.577	GT:AD:DP:GQ:PL	0/1:35,52:87:99:1141,0,762	18	0	1	0
chr11	61339326	61339326	G	A	exonic	TKFC	.	nonsynonymous SNV	TKFC:NM_001351977:exon5:c.G377A:p.R126Q,TKFC:NM_001351978:exon5:c.G377A:p.R126Q,TKFC:NM_001351979:exon5:c.G377A:p.R126Q,TKFC:NM_015533:exon5:c.G377A:p.R126Q,TKFC:NM_001351976:exon6:c.G377A:p.R126Q,TKFC:NM_001351980:exon6:c.G167A:p.R56Q	.	433	1087	2	0	0	2	0.000919118	.	.	.	3346050	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.058	0.0117516700259	.	.	8.356e-06	0	0	0	0	1.528e-05	0	0	6.5e-06	1	154602	rs750037556	3.147e-05	3.147e-05	2.451e-05	3.851e-05	0.0005	2.413e-05	2.158e-05	0.0001	7.541e-05	0	4.472e-05	0	0	0	0.0005	3.417e-05	1.656e-05	2.319e-05	2.628e-05	2.626e-05	5.138e-05	0	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	0.171	0.25664	T	0.06	0.47581	T	0.031	0.20130	B	0.109	0.31370	B	0.001042	0.40475	N	0.250144	0.595796	0.30982	N	.	.	.	1.48	0.31731	T	-2.34	0.59226	N	0.178	0.19190	-1.0501	0.14369	T	0.062	0.25851	T	10	0.17458877	0.32346	T	0.011752	0.29684	T	0.058	0.16647	.	.	0.159798565429	0.15598	0.49981964076163404	0.49902	0.265355236871	0.29086	0.217150896788	0.01152	T	0.143327	0.47939	T	-0.402938	0.02215	T	-0.636273	0.09943	T	0.136922477290511	0.16007	T	0.720728	0.66592	T	0.07955872	0.18183	0.1133717	0.27361	0.07955872	0.18183	0.1133717	0.27361	-6.492	0.50224	T	.	.	0.079	0.08802	B	.;.;.	.;.;.	1.513318	0.19439	14.26	0.9942177579028415	0.63790	0.90001	0.50845	D	AEFDBI	0.441703	0.49973	N	-0.518623092572485	0.21477	1.140118	-0.442504162170972	0.23762	1.297549	0.998852967327419	0.37823	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.635551	0.53088	0	.	.	5.25	-0.792	0.10374	1.924000	0.39695	-0.093000	0.12034	-0.739000	0.03678	1.000000	0.71638	0.001000	0.17328	0.582000	0.30943	0.3734:0.0:0.5147:0.1119	6.221	0.19895	728	0.54609	DhaK domain|DhaK domain;DhaK domain|DhaK domain;DhaK domain|DhaK domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1759.33	50	chr11	61339326	.	G	A	1759.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.08;DP=988;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.53;ReadPosRankSum=-0.452;SOR=0.693	GT:AD:DP:GQ:PL	0/1:65,65:130:99:1773,0,1489	18	0	1	0
chr11	61740527	61740527	G	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.G1918C:p.V640L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	5859.65	112	chr11	61740527	.	G	C	5859.65	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.763;DP=1817;ExcessHet=17.0548;FS=279.402;InbreedingCoeff=-0.5834;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=4.33;ReadPosRankSum=0.839;SOR=12.095	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,28:103:99:0|1:61740527_G_C:485,0,2418:61740527	6	0	13	0
chr11	61740531	61740531	T	C	exonic	DAGLA	.	nonsynonymous SNV	DAGLA:NM_006133:exon18:c.T1922C:p.I641T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.403	0.0197228382319	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	2.054e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.34095	T	0.015	0.61642	D	0.948	0.53620	P	0.588	0.50402	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.7	0.43825	L	1.82	0.25018	T	-2.3	0.51157	N	0.794	0.79022	-1.0707	0.09260	T	0.080	0.31675	T	10	0.8145296	0.80704	D	0.019723	0.42154	T	0.403	0.71636	0.74	0.87232	0.236619781664	0.23270	0.7000053541781993	0.69941	0.918852446908	0.71372	0.869591116905	0.92510	D	0.336126	0.70567	T	0.210662	0.74892	D	0.0648253	0.74565	D	0.952781975269318	0.63873	D	0.952105	0.81652	D	0.31849626	0.54512	0.2169086	0.46336	0.31849626	0.54512	0.2169086	0.46335	-9.563	0.71251	D	.	.	0.611	0.69337	P	.	.	4.584081	0.72443	25.8	0.99816410860115734	0.89973	0.98810	0.87149	D	AEFBI	0.685886	0.64774	D	0.421747977381816	0.62620	4.480836	0.433105891452527	0.63640	4.601745	0.999999987493739	0.74766	0.67177	0.52595	0	0.55458	0.17659	0	0.702456	0.68683	0	0.683762	0.67416	0	.	.	4.41	4.41	0.52588	6.166000	0.71739	6.033000	0.52942	0.651000	0.53179	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	13.945	0.63586	745	0.52414	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	7196.89	114	chr11	61740531	.	T	C	7196.89	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-1.001;DP=1904;ExcessHet=31.086;FS=256.929;InbreedingCoeff=-0.8097;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=4.37;ReadPosRankSum=0.515;SOR=12.508	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:74,29:103:99:0|1:61740527_G_C:495,0,2383:61740527	2	0	17	0
chr11	62518174	62518174	T	C	exonic	AHNAK	.	nonsynonymous SNV	AHNAK:NM_001346445:exon5:c.A16243G:p.T5415A,AHNAK:NM_001346446:exon5:c.A16243G:p.T5415A,AHNAK:NM_001620:exon5:c.A16243G:p.T5415A	.	429	1090	3	0	0	3	0.00137426	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.00613340138201	0.0004	0.000599042	0.0003	0	0.0006	0	0	0.0004	0	0	0.0003234	50	154602	rs11231126	0.0005	0.0005	0.0004	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	0.0001	0.0007	0.0007	0	0	0.0014	0.0005	0.0004	4.637e-05	0.0005	0.0005	0.0005	0.0005	0.0008	0.0004	0.0004	0.0007	0.0006	9.658e-05	0	0.0007	0	0	0	0.0034	0.0008	0.0005	0	1.0	0.00964	T	0.72	0.05345	T	0.004	0.12183	B	0.019	0.18783	B	0.808425	0.06812	N	1.142370	1	0.08975	N	0.03	0.08032	N	5.6	0.00825	T	-1.21	0.30762	N	0.064	0.03613	-0.9167	0.45997	T	0.001	0.00318	T	10	0.0036427677	0.00067	T	0.006133	0.16052	T	0.043	0.11576	.	.	0.0482279557977	0.04254	0.10253187904966532	0.10183	0.0252877464739	0.02574	0.202656537294	0.00538	T	0.060196	0.31322	T	-0.609884	0.00127	T	-0.724246	0.04594	T	0.0145291981044209	0.00297	T	0.412859	0.10744	T	0.033250626	0.03505	0.031455915	0.01737	0.033250626	0.03505	0.031455915	0.01736	-1.929	0.02924	T	.	.	0.070	0.03661	B	.	.	-0.267617	0.02762	0.372	0.10202735489824774	0.00123	0.01069	0.03960	N	AEFBI	.	.	.	-2.10865655884178	0.00123	0.005244964	-2.13797415557105	0.00154	0.006768702	0.999999971553687	0.74766	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.711	0.71501	0	.	.	4.69	-8.1	0.00957	-0.483000	0.06616	.	.	-0.188000	0.09543	0.000000	0.06391	0.000000	0.08366	0.063000	0.16184	0.096:0.4112:0.0891:0.4037	5.234	0.14755	217	0.91564	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002014	0.000000	0.001359	0.008772	0.000000	0.000000	0.000000	0.000000	0.02632	1751.33	34	chr11	62518174	.	T	C	1751.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.49;DP=1168;ExcessHet=0;FS=1.943;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.3;ReadPosRankSum=-0.198;SOR=0.602	GT:AD:DP:GQ:PL	0/1:103,67:170:99:1765,0,2735	18	0	1	0
chr11	64000281	64000281	T	C	exonic	MACROD1	.	nonsynonymous SNV	MACROD1:NM_014067:exon5:c.A610G:p.S204G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.102	0.0337110212741	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.325434	0.14201	U	0.600535	0.99722	0.81001	N	-2.225	0.00116	N	2.05	0.20664	T	4.38	0.00040	N	0.118	0.10769	-0.9583	0.39497	T	0.006	0.02131	T	10	0.019934714	0.00452	T	0.033711	0.55171	D	0.102	0.29158	0.35	0.34760	0.0401082797425	0.02173	0.2711121457136292	0.27024	0.234622177888	0.26005	0.545179247856	0.45177	T	0.029991	0.21364	T	-0.304989	0.08197	T	-0.675872	0.07237	T	0.0703713595867157	0.08703	T	0.957704	0.84069	D	0.19299333	0.40990	0.088470854	0.20630	0.19299333	0.40990	0.088470854	0.20629	1.542	0.00079	T	.	.	0.074	0.04889	B	.	.	2.141140	0.27267	17.40	0.81274957222145294	0.13605	0.17710	0.19954	N	AEFDBHCIJ	0.141030	0.26309	N	-1.1513629843685	0.05757	0.2633108	-0.887482447845984	0.12390	0.6370458	0.999999970070332	0.74766	0.789315	0.99827	0	0.779548	0.99637	0	0.768056	0.98339	0	0.554799	0.18163	0	.	.	3.85	2.67	0.30756	0.851000	0.27403	4.789000	0.44887	0.580000	0.29708	0.098000	0.22752	1.000000	0.68203	0.954000	0.50415	0.0:0.1137:0.218:0.6683	3.977	0.08971	371	0.84287	Macro domain|Macro domain|Macro 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	.	.	.	.	.	.	.	.	0.02632	310.33	34	chr11	64000281	.	T	C	310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.995;DP=686;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=5.54;ReadPosRankSum=0.07;SOR=0.597	GT:AD:DP:GQ:PL	0/1:38,18:56:99:324,0,1034	18	0	1	0
chr11	64355623	64355623	G	A	exonic	CCDC88B	.	nonsynonymous SNV	CCDC88B:NM_032251:exon26:c.G4370A:p.R1457Q	.	428	1068	25	1	0	27	0.0124827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.00789826133485	0.0010	0.000199681	0.0014	0.0003	0.0021	0	0.0002	0.0018	0.0061	0.0011	0.0013001	201	154602	rs61738780	0.0010	0.0010	0.0010	0.0011	0.0341	0.0010	0.0010	0.0302	0.0287	0.0006	0.0015	0.0108	2.524e-05	0.0001	0.0341	0.0006	0.0026	0.0007	0.0013	0.0013	0.0014	0.0012	0.0018	0.0011	0.0011	0.0013	0.0011	0.0002	0.0209	0.0018	0.0115	0	0.0002	0.0102	0.0012	0.0047	0.0008	0.192	0.33254	T	0.244	0.24123	T	0.089	0.25085	B	0.004	0.10090	B	.	.	.	.	0.999995	0.08975	N	1.3	0.32576	L	1.92	0.23082	T	-0.13	0.50502	N	0.169	0.18649	-1.0297	0.20551	T	0.036	0.15640	T	9	0.0052429438	0.00114	T	0.007898	0.20955	T	0.014	0.01968	.	.	0.15556083564	0.15200	0.05851753216562489	0.05792	0.307009449586	0.33004	0.234686657786	0.02333	T	0.001166	0.00668	T	-0.341553	0.05280	T	-0.288021	0.45978	T	0.00879350879709393	0.00108	T	0.750425	0.37198	T	0.018738678	0.00396	0.031751476	0.01808	0.018738678	0.00396	0.031751476	0.01808	-3.202	0.12628	T	.	.	0.092	0.13503	B	.;.	.;.	2.422020	0.31145	18.65	0.99385033340285744	0.62068	0.17497	0.19862	N	AEFDGBHCI	0.069256	0.13700	N	-0.502872519806394	0.21986	1.170848	-0.426668772490506	0.24218	1.324966	0.999999980921071	0.74766	0.730579	0.87903	0	0.635938	0.57008	0	0.749866	0.98131	0	0.721622	0.92947	0	.	.	3.95	1.87	0.24559	0.534000	0.22807	3.797000	0.39853	-0.695000	0.04090	0.395000	0.26129	1.000000	0.68203	0.606000	0.31539	0.3025:0.0:0.6975:0.0	4.694	0.12179	457	0.78953	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.029204	0.015152	0.047554	0.052632	0.000000	0.068966	0.003049	0.000000	0.02632	1202.33	33	chr11	64355623	.	G	A	1202.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.878;DP=750;ExcessHet=0;FS=0.686;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.94;ReadPosRankSum=0.896;SOR=0.592	GT:AD:DP:GQ:PL	0/1:69,52:121:99:1216,0,1722	18	0	1	0
chr11	65551467	65551467	C	T	exonic	LTBP3	.	nonsynonymous SNV	LTBP3:NM_001130144:exon10:c.G1556A:p.S519N,LTBP3:NM_001164266:exon10:c.G1205A:p.S402N,LTBP3:NM_021070:exon10:c.G1556A:p.S519N	Dental anomalies and short stature, Autosomal recessive	0	1500	22	0	0	22	0.00727995	.	.	.	1525194	Inborn_genetic_diseases|Brachyolmia-amelogenesis_imperfecta_syndrome	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0011018,MedGen:C1832594,OMIM:601216,Orphanet:2899	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.152	0.0861708774913	.	0.00179712	0.0007	0	8.684e-05	0	0	3.03e-05	0	0.0052	0.0006404	99	154602	rs570380350	0.0004	0.0004	0.0002	0.0005	0.0055	0.0004	0.0004	0.0051	0.0049	0	0	0	5.038e-05	0	0.0016	4.946e-05	0.0005	0.0055	0.0002	0.0002	0.0002	0.0003	0.0062	0.0002	0.0002	0.0045	0.0039	2.407e-05	0	6.539e-05	0	0	0	0	5.881e-05	0	0.0062	0.187	0.24564	T	0.208	0.26969	T	0.145	0.27759	B	0.099	0.30579	B	0.400142	0.04529	N	1.416120	1	0.08975	N	1.355	0.33814	L	-1.4	0.81150	T	-0.57	0.19720	N	0.122	0.14905	-0.8711	0.50446	T	0.311	0.68175	T	10	0.0053569376	0.00118	T	0.086171	0.74682	D	0.152	0.39956	0.277	0.23004	0.661277560528	0.65843	0.41550788690554474	0.41466	.	.	0.349294781685	0.17819	T	0.096512	0.39840	T	-0.481784	0.00722	T	-0.463183	0.26253	T	0.0238298148789706	0.01124	T	0.773923	0.40554	T	0.031429987	0.02981	0.048002582	0.07038	0.032936346	0.03415	0.052800663	0.08771	-5.692	0.43623	T	.	.	0.088	0.20972	B	.;.;.	.;.;.	1.444103	0.18638	13.85	0.97814607929400699	0.36155	0.06490	0.12500	N	AEFDGBHCI	0.073288	0.14654	N	-0.869197293666338	0.11580	0.5596304	-0.876713039163787	0.12647	0.6517537	0.99999999232414	0.74766	0.706548	0.73137	0	0.633656	0.55848	0	0.584781	0.30282	0	0.714379	0.83352	0	.	.	4.56	-0.409	0.11761	0.062000	0.14264	1.951000	0.29885	0.599000	0.40250	0.000000	0.06391	0.001000	0.17328	0.984000	0.60418	0.476:0.3896:0.1344:0.0	6.125	0.19393	290	0.88477	.;.;.	.	.	.	.	.	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	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	582.33	40	chr11	65551467	.	C	T	582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.581;DP=695;ExcessHet=0;FS=1.065;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=-1.328;SOR=0.963	GT:AD:DP:GQ:PL	0/1:30,23:53:99:596,0,800	18	0	1	0
chr11	66863811	66863811	C	T	exonic	PC	.	nonsynonymous SNV	PC:NM_022172:exon10:c.G1331A:p.S444N,PC:NM_000920:exon11:c.G1331A:p.S444N,PC:NM_001040716:exon12:c.G1331A:p.S444N	Pyruvate carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.340	0.0403761480499	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.526	0.07746	T	0.513	0.10821	T	0.001	0.07471	B	0.006	0.12133	B	0.000002	0.62929	D	0.096468	0.999867	0.50061	D	0.27	0.09956	N	-1.49	0.81235	T	0.25	0.04456	N	0.597	0.61596	-0.7183	0.59546	T	0.281	0.65280	T	10	0.371042	0.53477	T	0.040376	0.59342	D	0.340	0.66202	0.353	0.35246	0.417919123248	0.41407	.	.	0.828852337507	0.67540	0.812464594841	0.83870	D	0.306455	0.67866	T	-0.0390994	0.46083	T	-0.29394	0.45361	T	0.607176721096039	0.36687	D	0.939506	0.77539	D	0.16597606	0.36904	0.18945736	0.42293	0.16597606	0.36904	0.18945736	0.42293	-5.616	0.42938	T	0.0686599878140657	0.02511	0.139	0.30370	B	.;.;.;.;.	.;.;.;.;.	2.999539	0.40076	21.1	0.94205998637530508	0.24445	0.96446	0.69180	D	AEFDGBI	0.747219	0.68934	D	-0.12521594567028	0.36297	2.09615	0.0861861627878325	0.43852	2.678501	0.999999992442072	0.74766	0.718356	0.82227	0	0.588066	0.40923	0	0.570548	0.19454	0	0.655142	0.61905	0	.	.	5.54	5.54	0.82907	5.305000	0.65541	7.502000	0.59501	0.596000	0.33519	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.0:0.8337:0.1663:0.0	12.661	0.56177	297	0.88113	Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	1546.45	121	chr11	66863811	.	C	T	1546.45	.	AC=8;AF=0.235;AN=34;BaseQRankSum=-3.71;DP=1734;ExcessHet=4.0268;FS=173.681;InbreedingCoeff=-0.3104;MLEAC=9;MLEAF=0.265;MQ=60;MQRankSum=0;QD=1.43;ReadPosRankSum=1.63;SOR=11.827	GT:AD:DP:GQ:PL	0/1:95,41:136:81:81,0,1614	9	0	8	2
chr11	70325524	70325524	C	T	exonic	PPFIA1	.	nonsynonymous SNV	PPFIA1:NM_001378006:exon5:c.C556T:p.L186F,PPFIA1:NM_003626:exon5:c.C556T:p.L186F,PPFIA1:NM_177423:exon5:c.C556T:p.L186F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.209	0.0205606230066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.386e-06	2.053e-06	0	2.781e-06	1.826e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.826e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.064	0.44905	T	0.559	0.52977	P	0.701	0.60313	P	0.006406	0.32054	U	0.193970	0.99496	0.42488	D	2.265	0.64440	M	0.98	0.42122	T	-3.35	0.66436	D	0.739	0.73916	-0.7296	0.58984	T	0.200	0.55555	T	10	0.48158023	0.60463	T	0.020561	0.43179	T	0.209	0.49871	0.259	0.20159	0.424008860402	0.42018	0.3626377871181502	0.36177	0.76799639243	0.64618	0.812693417072	0.83906	D	0.413768	0.76753	T	-0.014331	0.49658	T	-0.258362	0.48987	T	0.979316532611847	0.72768	D	0.988601	0.96130	D	0.25011766	0.48012	0.34691197	0.60353	0.25011766	0.48012	0.34691197	0.60353	-13.736	0.92167	D	.	.	0.829	0.78989	P	.;.	.;.	4.159751	0.62465	24.5	0.99873922477131083	0.95160	0.89456	0.49932	D	AEFBI	0.153597	0.27848	N	0.259333758224046	0.54102	3.576677	0.203659963657009	0.50049	3.20118	0.999990652356261	0.74766	0.732398	0.92422	0	0.546412	0.12157	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.12	4.19	0.48645	1.191000	0.31747	4.531000	0.43726	0.530000	0.24713	0.606000	0.27796	1.000000	0.68203	0.990000	0.65344	0.154:0.7697:0.0:0.0763	8.525	0.32462	653	0.62661	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1383.33	35	chr11	70325524	.	C	T	1383.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.406;DP=728;ExcessHet=0;FS=3.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.447;SOR=0.444	GT:AD:DP:GQ:PL	0/1:50,59:109:99:1397,0,1106	18	0	1	0
chr11	72016041	72016041	C	G	exonic	NUMA1	.	nonsynonymous SNV	NUMA1:NM_006185:exon15:c.G1462C:p.A488P,NUMA1:NM_001286561:exon16:c.G1462C:p.A488P	Leukemia, acute promyelocytic, somatic	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.108	0.0167123708693	.	0.000199681	8.257e-06	0	0	0.0001	0	0	0	0	1.29e-05	2	154602	rs556436417	1.368e-06	1.368e-06	2.723e-06	0	4.472e-05	2.3e-07	9e-08	7.41e-06	2.77e-06	0	4.472e-05	0	0	0	0	0	0	0	1.313e-05	1.312e-05	2.57e-05	0	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.534e-05	0	0.0002	0	0	0	0	0	0.086	0.37966	T	0.163	0.31125	T	0.118	0.41009	B	0.136	0.36295	B	0.119599	0.19068	N	0.526155	1	0.81001	D	2.39	0.68882	M	2.6	0.49068	T	-1.94	0.53096	N	0.245	0.28965	-1.0245	0.22246	T	0.089	0.34160	T	10	0.08919382	0.15428	T	0.016712	0.38094	T	0.108	0.30607	0.054	0.00134	0.34936206512	0.34543	0.2939430198110377	0.29307	0.716424582878	0.61991	0.309654355049	0.11855	T	0.161761	0.57482	T	-0.216782	0.18435	T	-0.38004	0.35718	T	0.705626130104065	0.40987	D	0.881212	0.60904	D	0.27398434	0.50465	0.28336617	0.54330	0.27398434	0.50465	0.28336617	0.54329	-10.038	0.74139	D	.	.	0.481	0.64803	A	.;.;.;.;.;.	.;.;.;.;.;.	2.022338	0.25697	16.86	0.99509471557078399	0.68558	0.83935	0.43025	D	AEFGBHCI	0.399580	0.47481	N	-0.199100401297024	0.33173	1.878978	-0.166865635178497	0.32765	1.867305	0.987861424001036	0.31359	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.37	0.087	0.13761	0.150000	0.16082	.	.	0.599000	0.40250	0.984000	0.35821	0.907000	0.28067	0.967000	0.53440	0.2335:0.5657:0.0:0.2008	5.867	0.18028	538	0.73119	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2175.33	38	chr11	72016041	.	C	G	2175.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.203;DP=824;ExcessHet=0;FS=2.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.41;ReadPosRankSum=1.77;SOR=0.814	GT:AD:DP:GQ:PL	0/1:65,86:151:99:2189,0,1540	18	0	1	0
chr11	74497344	74497344	C	T	exonic	LOC100287896	.	nonsynonymous SNV	LOC100287896:NM_001319240:exon2:c.C439T:p.R147C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.823e-05	0.0005	0	0	0	0	0	0	6.5e-06	1	154602	rs780783153	6.874e-05	3.499e-05	0.0001	4.026e-05	0.0002	4.512e-05	3.843e-05	4.755e-05	3.807e-05	0.0002	3.666e-05	0	0.0002	0	0	8.179e-05	0.0001	1.674e-05	9.211e-05	9.197e-05	0.0001	6.733e-05	0.0002	5.534e-05	4.37e-05	9.578e-05	6.972e-05	0.0002	0	6.55e-05	0	0	0	0	7.356e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	474.33	34	chr11	74497344	.	C	T	474.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.71;DP=656;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.78;ReadPosRankSum=0.64;SOR=0.715	GT:AD:DP:GQ:PL	0/1:25,19:44:99:488,0,599	18	0	1	0
chr11	74835878	74835878	G	T	exonic	RNF169	.	nonsynonymous SNV	RNF169:NM_001098638:exon6:c.G1275T:p.E425D	.	435	1078	9	0	0	9	0.00415704	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.320	.	.	0.00219649	0.0013	0	0.0002	0	0	7.496e-05	0.0011	0.0090	0.0011319	175	154602	rs369569812	0.0007	0.0007	0.0004	0.0009	0.0086	0.0006	0.0006	0.0081	0.0079	0	6.708e-05	0	2.519e-05	0	0.0023	0.0001	0.0008	0.0086	0.0004	0.0004	0.0002	0.0005	0.0091	0.0003	0.0003	0.0070	0.0062	4.813e-05	0	0.0001	0	0	0	0	0.0001	0	0.0091	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.991	0.79672	D	0.000000	0.84330	D	0.000000	0.999978	0.53665	D	0.895	0.22405	L	0.43	0.56772	T	-1.14	0.29323	N	0.708	0.71143	-0.3870	0.72436	T	0.320	0.68960	T	10	0.009866834	0.00221	T	.	.	.	0.320	0.64215	0.448	0.50793	0.686092073669	0.68341	0.2554635684115935	0.25460	0.747522422216	0.63598	0.729810297489	0.71478	T	0.116785	0.43639	T	-0.318459	0.07025	T	-0.223682	0.52382	T	0.122595287670529	0.14681	T	0.90061	0.65471	D	0.4006415	0.60777	0.3159087	0.57575	0.4006415	0.60777	0.3159087	0.57574	-7.437	0.57165	T	.	.	0.841	0.79302	P	.	.	4.288453	0.65387	24.8	0.9985157809661398	0.93102	0.97739	0.76783	D	AEFGBI	0.555027	0.56563	D	0.52610219863704	0.68639	5.244875	0.491239616784563	0.67407	5.080047	0.997995646202725	0.36288	0.706548	0.73137	0	0.653731	0.59785	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.99	4.12	0.47504	4.184000	0.58121	3.508000	0.38821	-0.678000	0.04252	1.000000	0.71638	1.000000	0.68203	0.985000	0.61073	0.1523:0.0:0.8477:0.0	11.187	0.47887	639	0.64210	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.05263	3066.83	45	chr11	74835878	.	G	T	3066.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.43;DP=856;ExcessHet=0.119;FS=6.978;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.187;SOR=0.389	GT:AD:DP:GQ:PL	0/1:59,58:117:99:1806,0,1543	17	0	2	0
chr11	74848462	74848462	C	A	exonic	XRRA1	.	nonsynonymous SNV	XRRA1:NM_001378171:exon6:c.G397T:p.V133L,XRRA1:NM_001378167:exon8:c.G226T:p.V76L,XRRA1:NM_001378168:exon8:c.G532T:p.V178L,XRRA1:NM_001378172:exon10:c.G322T:p.V108L,XRRA1:NM_001378173:exon10:c.G322T:p.V108L,XRRA1:NM_001378176:exon10:c.G226T:p.V76L,XRRA1:NM_001378162:exon11:c.G397T:p.V133L,XRRA1:NM_001378163:exon11:c.G322T:p.V108L,XRRA1:NM_001378164:exon11:c.G322T:p.V108L,XRRA1:NM_001378166:exon11:c.G226T:p.V76L,XRRA1:NM_001378169:exon11:c.G181T:p.V61L,XRRA1:NM_001378170:exon11:c.G397T:p.V133L,XRRA1:NM_001378175:exon11:c.G226T:p.V76L,XRRA1:NM_001270380:exon12:c.G1096T:p.V366L,XRRA1:NM_001270381:exon12:c.G532T:p.V178L,XRRA1:NM_001378159:exon12:c.G1045T:p.V349L,XRRA1:NM_001378160:exon12:c.G1045T:p.V349L,XRRA1:NM_001378165:exon12:c.G226T:p.V76L,XRRA1:NM_001378174:exon12:c.G226T:p.V76L,XRRA1:NM_001378161:exon13:c.G487T:p.V163L,XRRA1:NM_001378158:exon14:c.G1336T:p.V446L,XRRA1:NM_001378157:exon15:c.G1381T:p.V461L,XRRA1:NM_182969:exon15:c.G1357T:p.V453L	.	.	.	.	.	.	.	.	0.9840	0.79	.	4102619	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	.	.	.	1.156e-05	0	0	0	0	0	0	9.526e-05	6.5e-06	1	154602	rs746507275	1.516e-05	1.642e-05	1.369e-05	1.666e-05	0.0007	9.93e-06	8.48e-06	0.0002	0.0001	0	2.288e-05	0	0	0	0.0007	1.086e-05	1.668e-05	4.697e-05	2.628e-05	2.625e-05	2.571e-05	2.687e-05	4.412e-05	8.14e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0.0034	4.412e-05	0	0	0.0	0.91255	D	0.0	0.92824	D	0.996	0.68779	D	0.817	0.74454	P	0.000001	0.62929	D	0.000000	0.980045	0.39625	D	2.11	0.58565	M	0.17	0.60485	T	-1.88	0.44094	N	0.623	0.66272	-0.6420	0.63060	T	0.339	0.70526	T	10	0.621803	0.68019	D	0.06576	0.69676	D	0.155	0.40530	0.197	0.10975	0.638697055951	0.63572	0.3358150894898281	0.33494	0.0792000987712	0.08910	0.466926574707	0.34259	T	0.056151	0.30207	T	-0.047546	0.44821	T	-0.306073	0.44079	T	0.86255419254303	0.51285	D	0.779122	0.41328	T	0.39052942	0.60070	0.45884475	0.68560	0.39052942	0.60070	0.45884475	0.68560	-2.997	0.11296	T	.	.	0.557	0.69362	A	.;.;.	.;.;.	4.925329	0.81151	27.5	0.99355666822980326	0.60779	0.85696	0.44857	D	AEFDBCI	0.394118	0.47150	N	0.232929923570568	0.52800	3.452061	0.138610846177606	0.46543	2.898483	0.999333777195799	0.39185	0.460665	0.09802	0	0.577304	0.33150	0	0.536957	0.11973	0	0.491896	0.07777	0	.	.	4.75	3.84	0.43422	2.208000	0.42436	5.746000	0.49600	-0.257000	0.07002	1.000000	0.71638	1.000000	0.68203	0.152000	0.20376	0.0:0.8992:0.0:0.1008	8.998	0.35225	652	0.62785	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1156.33	34	chr11	74848462	.	C	A	1156.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.375;DP=745;ExcessHet=0;FS=1.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.68;ReadPosRankSum=0.411;SOR=0.519	GT:AD:DP:GQ:PL	0/1:53,46:99:99:1170,0,1486	18	0	1	0
chr11	77702384	77702384	T	C	exonic	RSF1	.	nonsynonymous SNV	RSF1:NM_016578:exon6:c.A845G:p.D282G	.	441	1056	21	4	0	29	0.0135451	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	.	0.0012	0.00299521	0.0020	9.968e-05	0.0010	0	0.0002	0.0014	0.0022	0.0079	0.0017788	275	154602	rs149599829	0.0013	0.0013	0.0010	0.0016	0.0254	0.0013	0.0012	0.0220	0.0207	0.0007	0.0005	0.0023	7.565e-05	0.0003	0.0254	0.0008	0.0023	0.0078	0.0012	0.0012	0.0011	0.0013	0.0093	0.0010	0.0010	0.0072	0.0064	0.0002	0	0.0012	0.0023	0	0.0004	0.0340	0.0011	0.0038	0.0093	0.074	0.34621	T	0.145	0.33000	T	0.001	0.07471	B	0.001	0.04355	B	0.046415	0.23442	N	0.370958	0.956621	0.46578	D	1.445	0.36358	L	-2.04	0.86415	D	-2.62	0.63090	D	0.156	0.17140	-0.4306	0.71047	T	0.423	0.76783	T	10	0.0058239996	0.00130	T	.	.	.	0.126	0.34673	.	.	0.388737156453	0.38486	0.06564192176107955	0.06503	0.0250102987337	0.02547	0.317823112011	0.13091	T	0.021387	0.33439	T	-0.34498	0.05051	T	-0.26333	0.48490	T	0.0134633381867005	0.00245	T	0.765923	0.39354	T	0.12443495	0.29197	0.14633854	0.34674	0.12443495	0.29197	0.14633854	0.34673	-4.973	0.36633	T	.	.	0.087	0.18497	B	.;.;.;.	.;.;.;.	2.676665	0.34910	19.76	0.98318563966930406	0.40212	0.91193	0.53043	D	AEFBI	0.412134	0.48233	N	-0.267957841629931	0.30392	1.694271	-0.0931855098408182	0.35671	2.066501	0.0647651325479164	0.15339	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.81	3.43	0.38372	1.231000	0.32226	4.158000	0.42192	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0687:0.1293:0.802	8.596	0.32876	533	0.73433	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.018630	0.010101	0.016304	0.046784	0.000000	0.025862	0.003049	0.022727	0.02632	1395.33	49	chr11	77702384	.	T	C	1395.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.523;DP=845;ExcessHet=0;FS=1.403;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.99;ReadPosRankSum=0.048;SOR=0.574	GT:AD:DP:GQ:PL	0/1:67,60:127:99:1409,0,1793	18	0	1	0
chr11	86392745	86392745	A	T	exonic	CCDC81	.	nonsynonymous SNV	CCDC81:NM_001156474:exon4:c.A503T:p.D168V	.	429	1092	1	0	0	1	0.000457666	.	.	.	3296066	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.340	0.0521492676499	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319474820	1.93e-05	1.847e-05	1.833e-05	2.028e-05	0.0004	1.321e-05	1.133e-05	6.165e-05	2.548e-05	0	0	0	0	0	0.0004	2.317e-05	0	0	2.628e-05	2.627e-05	5.139e-05	0	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	0.083	0.41405	T	0.713	0.42139	P	0.36	0.43183	B	.	.	.	.	0.999925	0.81001	D	2.34	0.67151	M	0.72	0.50976	T	-5.63	0.86836	D	0.678	0.68516	-1.0303	0.20357	T	0.121	0.42058	T	8	0.5847764	0.66048	D	0.052149	0.64951	D	0.340	0.66202	.	.	0.479056812784	0.47537	0.8159484030185777	0.81550	0.475427852183	0.46717	0.449824810028	0.31920	T	0.117639	0.43787	T	-0.0388504	0.46119	T	-0.0782473	0.65032	T	0.482591927051544	0.31992	T	0.823718	0.48487	T	0.45384982	0.64285	0.6373813	0.78825	0.45384982	0.64285	0.6373813	0.78826	-11.44	0.82016	D	.	.	0.393	0.59171	A	.	.	3.775543	0.54258	23.5	0.76350062237108207	0.11433	0.92427	0.55687	D	AEFI	0.672898	0.63914	D	-0.0786640535769493	0.38330	2.24324	-0.043738936825297	0.37763	2.215446	0.663387597057153	0.22295	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	5.69	4.56	0.55644	6.458000	0.73425	8.035000	0.76290	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.9243:0.0:0.0757:0.0	10.749	0.45395	839	0.37672	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1439.33	37	chr11	86392745	.	A	T	1439.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.118;DP=733;ExcessHet=0;FS=1.669;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.84;ReadPosRankSum=1.35;SOR=0.499	GT:AD:DP:GQ:PL	0/1:46,58:104:99:1453,0,1146	18	0	1	0
chr11	89444196	89444196	T	C	exonic	NOX4	.	nonsynonymous SNV	NOX4:NM_001291929:exon4:c.A311G:p.N104S,NOX4:NM_001143836:exon5:c.A386G:p.N129S,NOX4:NM_001291926:exon5:c.A164G:p.N55S,NOX4:NM_001291927:exon5:c.A449G:p.N150S,NOX4:NM_001300995:exon5:c.A314G:p.N105S,NOX4:NM_016931:exon5:c.A386G:p.N129S,NOX4:NM_001143837:exon8:c.A314G:p.N105S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.367	0.21702248187	.	.	5.79e-05	0	0	0.0005	0	3.008e-05	0.0011	0	4.53e-05	7	154602	rs753230366	3.011e-05	3.01e-05	1.77e-05	4.264e-05	0.0002	2.282e-05	2.033e-05	0.0001	8.778e-05	0	0	0.0008	0.0002	1.872e-05	0	7.196e-06	8.281e-05	0	1.972e-05	1.969e-05	1.286e-05	2.689e-05	0.0004	5.24e-06	2.45e-06	6.862e-05	2.87e-05	0	0	6.551e-05	0	0.0004	0	0	0	0	0	0.118	0.28148	T	0.488	0.37310	T	0.073	0.31319	B	0.074	0.38432	B	0.001470	0.38917	N	0.276160	0.989858	0.81001	D	2.37	0.68279	M	-2.72	0.90622	D	-1.96	0.47008	N	0.341	0.38232	0.056	0.83358	D	0.655	0.87996	D	9	0.36495686	0.53027	T	0.217022	0.87588	D	0.367	0.68670	0.815	0.92992	0.880952075582	0.87978	0.3759652565613953	0.37510	0.0440837947747	0.04745	0.436702549458	0.30127	T	0.272867	0.64528	T	-0.30522	0.08175	T	-0.37588	0.36204	T	0.0564761804603757	0.06601	T	0.853715	0.53946	D	0.034224413	0.03801	0.05589514	0.09889	0.034224413	0.03800	0.05589514	0.09889	-10.09	0.74775	D	.	.	0.094	0.30529	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	1.812079	0.23026	15.86	0.98835363619644745	0.47018	0.79950	0.39722	D	AEFDBI	0.429109	0.49236	N	-0.144105177002451	0.35487	2.038904	-0.0290017578959833	0.38411	2.262617	0.999984943330519	0.51787	0.732398	0.92422	0	0.573888	0.26702	0	0.618467	0.43123	0	0.727631	0.95156	0	.	.	5.16	4.04	0.46262	1.479000	0.35061	2.862000	0.35209	-0.123000	0.13640	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0813:0.0:0.9187	10.083	0.41574	906	0.23090	.;.;.;Ferric reductase transmembrane component-like domain;Ferric reductase transmembrane component-like domain;.;.;Ferric reductase transmembrane component-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	.	.	.	.	.	.	.	.	0.02632	1305.33	33	chr11	89444196	.	T	C	1305.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.665;DP=766;ExcessHet=0;FS=2.185;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.6;ReadPosRankSum=-0.11;SOR=0.857	GT:AD:DP:GQ:PL	0/1:79,57:136:99:1319,0,1921	18	0	1	0
chr11	93699651	93699651	G	A	exonic	CEP295	.	nonsynonymous SNV	CEP295:NM_033395:exon15:c.G4739A:p.R1580H	.	.	.	.	.	.	.	.	.	.	.	713254	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.005	0.0161673775141	0.0004	.	0.0016	0	0	0	0.0055	0.0028	0	0.0001	0.0003105	48	154602	rs202195781	0.0016	0.0016	0.0015	0.0017	0.0018	0.0016	0.0015	0.0017	0.0017	0.0003	0.0006	0.0002	0	0.0043	0.0004	0.0018	0.0013	0.0003	0.0013	0.0013	0.0014	0.0012	0.0023	0.0012	0.0011	0.0020	0.0019	2.406e-05	0	0.0002	0	0	0.0031	0	0.0023	0.0019	0	0.021	0.49117	D	0.281	0.21612	T	0.489	0.36925	P	0.007	0.12992	B	0.931861	0.07541	N	1.040950	1	0.08975	N	.	.	.	2.13	0.19588	T	0.13	0.05503	N	0.068	0.04072	-1.0166	0.24819	T	0.019	0.08173	T	10	0.0057857037	0.00129	T	0.016167	0.37293	T	0.005	0.00259	.	.	0.0138822411134	0.00435	0.053132961293230134	0.05255	0.103024876547	0.11653	0.220037311316	0.01312	T	0.00526	0.04708	T	-0.594678	0.00157	T	-0.626998	0.10643	T	0.0197853442473981	0.00680	T	0.321368	0.06521	T	0.034950886	0.04022	0.031583913	0.01768	0.034950886	0.04022	0.031583913	0.01768	-2.734	0.07593	T	.	.	0.088	0.11845	B	.	.	1.122897	0.15086	11.58	0.81130710269825457	0.13534	0.03395	0.08508	N	AEFBI	0.040712	0.06093	N	-1.12670761669533	0.06172	0.2834006	-1.17828875029594	0.06273	0.3014731	0.0392426421148575	0.14385	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	4.63	-0.647	0.10892	0.024000	0.13447	-1.246000	0.05919	-0.231000	0.07715	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.4156:0.3095:0.2749	4.584	0.11668	834	0.38640	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2310.33	33	chr11	93699651	.	G	A	2310.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.79;DP=818;ExcessHet=0;FS=1.162;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.84;ReadPosRankSum=-1.489;SOR=0.578	GT:AD:DP:GQ:PL	0/1:93,87:180:99:2324,0,2383	18	0	1	0
chr11	106010659	106010659	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G259C:p.A87P,MSANTD4:NM_001318748:exon2:c.G259C:p.A87P,MSANTD4:NM_001318749:exon2:c.G259C:p.A87P,MSANTD4:NM_001318750:exon2:c.G259C:p.A87P,MSANTD4:NM_032424:exon2:c.G259C:p.A87P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2083	3117.7	222	chr11	106010659	.	C	G	3117.7	.	AC=5;AF=0.208;AN=24;BaseQRankSum=-4.746;DP=2726;ExcessHet=6.9875;FS=256.706;InbreedingCoeff=-0.5491;MLEAC=6;MLEAF=0.25;MQ=60;MQRankSum=0;QD=2.03;ReadPosRankSum=1.72;SOR=11.739	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,34:141:99:0|1:106010659_C_G:113,0,3357:106010659	7	0	5	7
chr11	106010660	106010660	C	G	exonic	MSANTD4	.	nonsynonymous SNV	MSANTD4:NM_001318747:exon2:c.G258C:p.K86N,MSANTD4:NM_001318748:exon2:c.G258C:p.K86N,MSANTD4:NM_001318749:exon2:c.G258C:p.K86N,MSANTD4:NM_001318750:exon2:c.G258C:p.K86N,MSANTD4:NM_032424:exon2:c.G258C:p.K86N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00140864098182	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.794e-06	5.338e-05	6.814e-06	2.753e-06	1.16e-05	1.99e-06	1.28e-06	1.32e-06	9.6e-07	0	0	0	0	0	0	4.502e-06	1.657e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.628	0.09572	T	0.455	0.12776	T	0.001	0.07471	B	0.002	0.06944	B	0.000777	0.41888	D	0.252245	0.672182	0.30354	N	1.1	0.28011	L	.	.	.	-0.42	0.25986	N	0.046	0.01825	-1.0800	0.07349	T	0.039	0.16935	T	9	0.07250753	0.10832	T	0.001409	0.02088	T	0.035	0.08770	0.333	0.32005	0.180583059064	0.17676	0.42697714804244885	0.42614	0.368530488454	0.38403	0.557739257812	0.46948	T	0.028728	0.20742	T	-0.209044	0.19513	T	-0.538054	0.18489	T	0.29334169626236	0.24729	T	0.788921	0.43637	T	0.06988713	0.15349	0.040901218	0.04526	0.06988713	0.15349	0.040901218	0.04526	-4.897	0.35701	T	.	.	0.261	0.51359	B	.;.;.	.;.;.	2.485158	0.32052	18.93	0.96605095872499003	0.30423	0.93307	0.57867	D	AEFGBI	0.282833	0.39607	N	-0.459278369652404	0.23427	1.257956	-0.24408778769958	0.29975	1.683831	0.956715357216671	0.28262	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.88	3.03	0.34070	0.769000	0.26267	2.724000	0.34335	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.986000	0.61781	0.2344:0.4203:0.1184:0.227	1.144	0.01662	725	0.54935	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	3929.56	223	chr11	106010660	.	C	G	3929.56	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-2.836;DP=2688;ExcessHet=6.9875;FS=275.458;InbreedingCoeff=-0.5813;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=2.53;ReadPosRankSum=1.63;SOR=11.87	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:107,34:141:99:0|1:106010659_C_G:113,0,3357:106010659	1	0	10	8
chr11	106054142	106054142	A	C	exonic	KBTBD3	.	nonsynonymous SNV	KBTBD3:NM_001330359:exon3:c.T310G:p.L104V,KBTBD3:NM_152433:exon3:c.T547G:p.L183V,KBTBD3:NM_198439:exon4:c.T547G:p.L183V	.	441	1075	6	0	0	6	0.00278293	.	.	.	3272178	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.112	0.0397538975148	0.0002	0.000199681	0.0003	0	0.0008	0	0	0.0002	0	0.0006	0.0002199	34	154602	rs138578492	0.0002	0.0002	0.0001	0.0002	0.0017	0.0001	0.0001	0.0009	0.0007	0.0001	0.0005	7.659e-05	0	0	0.0017	0.0001	0.0002	0.0007	0.0001	0.0001	0.0001	0.0002	0.0006	8.658e-05	7.251e-05	0.0002	8.989e-05	0.0002	0	0	0	0	0	0	0.0001	0	0.0006	0.164	0.23360	T	0.191	0.31427	T	.	.	.	.	.	.	0.011081	0.29665	N	0.351372	1	0.08975	N	.	.	.	-0.35	0.68616	T	0.45	0.03191	N	0.371	0.52829	-0.8424	0.52486	T	0.186	0.53526	T	10	0.048363566	0.04276	T	0.039754	0.58991	D	0.112	0.31546	.	.	0.581788271231	0.57850	0.19960741259531312	0.19877	0.18827095744	0.21156	0.558083176613	0.46996	T	.	.	.	-0.321387	0.06785	T	-0.341942	0.40125	T	0.0172024555853503	0.00463	T	0.824917	0.48720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	0.02065	B	.;.;.	.;.;.	0.862815	0.12354	8.891	0.80704294782379948	0.13329	0.65886	0.32889	D	AEI	0.122978	0.23837	N	-0.728637916359737	0.15220	0.7651369	-0.674978886877872	0.17588	0.9358457	3.44076391546184E-6	0.01202	0.553676	0.25195	0	0.573888	0.26702	0	0.547309	0.15389	0	0.620846	0.47308	0	.	.	5.86	-2.29	0.06419	0.609000	0.23935	0.867000	0.22280	-0.562000	0.04833	0.994000	0.38300	0.976000	0.30059	0.975000	0.56047	0.5717:0.0:0.4283:0.0	14.067	0.64357	748	0.52143	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	862.33	40	chr11	106054142	.	A	C	862.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=765;ExcessHet=0;FS=2.985;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.48;ReadPosRankSum=1.32;SOR=1.138	GT:AD:DP:GQ:PL	0/1:59,32:91:99:876,0,1688	18	0	1	0
chr11	114530269	114530269	G	C	exonic	NXPE1	.	nonsynonymous SNV	NXPE1:NM_152315:exon3:c.C313G:p.P105A,NXPE1:NM_001367953:exon5:c.C739G:p.P247A	.	431	1028	61	2	0	65	0.0306459	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.300	.	0.0036	0.00559105	0.0069	0.0011	0.0036	0.0002	0.0003	0.0060	0.0165	0.0222	0.0063065	975	154602	rs45609739	0.0056	0.0056	0.0050	0.0063	0.0227	0.0055	0.0055	0.0207	0.0204	0.0010	0.0036	0.0022	5.038e-05	0.0006	0.0227	0.0050	0.0068	0.0215	0.0042	0.0042	0.0039	0.0045	0.0189	0.0039	0.0038	0.0157	0.0146	0.0010	0.0340	0.0051	0.0020	0	0.0005	0.0204	0.0053	0.0085	0.0189	0.011	0.57480	D	0.037	0.56640	D	1.0	0.90584	D	0.998	0.88582	D	0.000032	0.55875	D	0.000000	1	0.08975	N	3.145	0.88303	M	1.81	0.64818	T	-5.65	0.93697	D	0.587	0.63035	-0.3800	0.72651	T	0.419	0.76503	T	10	0.005137056	0.00112	T	.	.	.	0.300	0.62068	.	.	0.389439708392	0.38560	0.4717352409557836	0.47092	0.16594407476	0.18725	0.33301743865	0.15389	T	0.236518	0.60401	T	-0.316631	0.07178	T	-0.210675	0.53631	T	0.0314134618907065	0.02212	T	0.90111	0.65631	D	0.39157385	0.60144	0.577302	0.75507	0.39157385	0.60144	0.577302	0.75508	-9.493	0.70815	D	.	.	0.423	0.61041	A	.;.;.;.	.;.;.;.	4.447330	0.69097	25.3	0.99347243344324987	0.60412	0.86495	0.45787	D	AEFBI	0.408249	0.48000	N	0.630376840640656	0.75105	6.247449	0.475806938901561	0.66391	4.945904	0.0134415062130334	0.12466	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.29	4.29	0.50359	3.630000	0.54014	3.198000	0.36737	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	15.055	0.71574	889	0.27310	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.026183	0.005051	0.025815	0.008772	0.100000	0.017241	0.039634	0.053030	0.07895	4554.79	38	chr11	114530269	.	G	C	4554.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.51;DP=950;ExcessHet=0.3672;FS=2.216;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.02;ReadPosRankSum=0.975;SOR=0.828	GT:AD:DP:GQ:PL	0/1:61,52:113:99:1392,0,1472	16	0	3	0
chr11	117428539	117428539	G	A	exonic	DSCAML1	.	nonsynonymous SNV	DSCAML1:NM_020693:exon33:c.C5951T:p.A1984V	.	467	1051	4	0	0	4	0.00189934	.	.	.	1870606	DSCAML1-related_disorder|not_provided|not_specified	.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.158	0.466210098701	.	.	0.0006	0	0	0	0	0.0006	0	0.0008	0.0001358	21	154602	rs760492346	0.0002	0.0002	0.0001	0.0002	0.0025	0.0001	0.0001	0.0014	0.0010	3.258e-05	0.0002	0	0	4.263e-05	0.0025	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	8.076e-05	0.0004	9.16e-05	7.713e-05	0.0001	7.908e-05	2.412e-05	0	0.0001	0	0	0	0.0068	0.0002	0.0009	0.0004	0.177	0.22746	T	0.181	0.31026	T	.	.	.	.	.	.	.	.	.	.	0.975909	0.39229	D	.	.	.	-0.01	0.63403	T	-1.05	0.29525	N	0.246	0.32148	-0.9537	0.40327	T	0.124	0.42673	T	9	0.09348783	0.16549	T	0.46621	0.94600	D	0.158	0.41098	.	.	0.619695279946	0.61661	0.27005283642960815	0.26918	0.00832187510535	0.00754	0.86537539959	0.91901	D	.	.	.	-0.0113619	0.50076	T	-0.254097	0.49413	T	0.0852401710544109	0.10644	T	0.814619	0.46840	T	.	.	.	.	.	.	.	.	-5.406	0.40977	T	.	.	0.147	0.32469	B	.;.	.;.	3.530975	0.49542	22.8	0.99579486933977424	0.72921	0.98155	0.80075	D	AEFBI	0.758398	0.69705	D	-0.202927074104933	0.33014	1.868289	-0.0723673569025499	0.36538	2.127603	0.889404668155575	0.25812	0.403107	0.06075	0	0.547309	0.14657	0	0.578056	0.29568	0	0.613276	0.41899	0	.	.	4.8	3.85	0.43556	6.360000	0.73005	9.516000	0.80927	0.484000	0.22197	0.981000	0.35396	1.000000	0.68203	0.970000	0.54328	0.0:0.1501:0.8499:0.0	14.321	0.66044	848	0.35897	.;.	.	.	.	.	.	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	0.002309	0.000000	0.001524	0.006452	0.000000	0.000000	0.000000	0.000000	0.07895	706.98	18	chr11	117428539	.	G	A	706.98	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.545;DP=266;ExcessHet=0;FS=1.342;InbreedingCoeff=0.5996;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.24;ReadPosRankSum=-0.372;SOR=0.465	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,13:13:39:1|1:117428522_G_A:448,39,0:117428522	17	1	1	0
chr11	124694413	124694413	T	-	exonic	SPA17	.	frameshift deletion	SPA17:NM_017425:exon5:c.423delT:p.L142Ffs*23	.	424	1096	2	0	0	2	0.000911577	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.845e-07	6.84e-07	0	1.376e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	3732.77	44	chr11	124694412	.	GT	G	3732.77	.	AC=2;AF=0.053;AN=38;DP=743;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=36.47;SOR=0.804	GT:AD:DP:GQ:PL	1/1:0,93:93:99:3760,280,0	18	1	0	0
chr11	126001826	126001826	G	C	exonic	CDON	.	nonsynonymous SNV	CDON:NM_001243597:exon11:c.C2051G:p.T684S,CDON:NM_001378964:exon11:c.C2051G:p.T684S,CDON:NM_016952:exon11:c.C2051G:p.T684S	Holoprosencephaly 11, Autosomal dominant, Isolated cases	0	1515	7	0	0	7	0.00230491	.	.	.	326403	not_provided|Holoprosencephaly_11|CDON-related_disorder	MedGen:C3661900|MONDO:MONDO:0013642,MedGen:C3280215,OMIM:614226,Orphanet:2162|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.136	.	0.0068	0.00179712	0.0068	0.0017	0.0023	0	0.0192	0.0089	0.0077	0.0031	0.0066235	1024	154602	rs145983470	0.0078	0.0079	0.0079	0.0078	0.0083	0.0077	0.0077	0.0081	0.0081	0.0010	0.0022	0.0121	0	0.0207	0.0026	0.0083	0.0070	0.0030	0.0060	0.0061	0.0057	0.0064	0.0081	0.0057	0.0056	0.0076	0.0073	0.0012	0.0033	0.0037	0.0130	0.0002	0.0177	0	0.0081	0.0057	0.0029	0.043	0.41364	D	0.307	0.19908	T	0.44	0.38723	B	0.118	0.38393	B	0.009752	0.30218	N	0.231330	0.989675	0.42042	D	1.745	0.45235	L	-0.36	0.68892	T	-0.85	0.28290	N	0.142	0.21839	-0.7994	0.55179	T	0.172	0.51357	T	10	0.008403778	0.00191	T	.	.	.	0.136	0.36778	0.193	0.10437	0.790592333802	0.78865	0.1986246840339425	0.19779	0.0929520975602	0.10498	0.40309292078	0.25499	T	0.278137	0.65078	T	-0.410333	0.01977	T	-0.351804	0.38998	T	0.0136248327535857	0.00252	T	0.562644	0.19782	T	0.11263977	0.26609	0.116664514	0.28163	0.11088617	0.26206	0.11224066	0.27079	-2.398	0.05207	T	0.17843210639092488	0.22868	0.111	0.29860	B	.;.;.	.;.;.	1.994872	0.25342	16.73	0.98568010399147765	0.43063	0.97944	0.78319	D	AEFBI	0.568045	0.57339	D	0.10610886230278	0.46746	2.910418	0.252453809694907	0.52788	3.451401	0.999994851408151	0.74766	0.651	0.46895	0	0.588066	0.40923	0	0.65145	0.50148	0	0.664235	0.64389	0	.	.	5.78	5.78	0.91418	5.219000	0.65094	4.547000	0.43788	0.676000	0.76740	1.000000	0.71638	0.981000	0.30433	0.528000	0.29660	0.0:0.0:1.0:0.0	20.367	0.98884	876	0.30350	.;.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.05263	2538.81	48	chr11	126001826	.	G	C	2538.81	.	AC=2;AF=0.053;AN=38;DP=766;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=30.96;SOR=1.151	GT:AD:DP:GQ:PL	1/1:0,82:82:99:2566,246,0	18	1	0	0
chr11	130915438	130915438	T	-	exonic	SNX19	.	frameshift deletion	SNX19:NM_001347918:exon1:c.502delA:p.S168Afs*49,SNX19:NM_001347919:exon1:c.502delA:p.S168Afs*49,SNX19:NM_001347920:exon1:c.502delA:p.S168Afs*49,SNX19:NM_001347921:exon1:c.502delA:p.S168Afs*49,SNX19:NM_014758:exon1:c.502delA:p.S168Afs*49	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2018.29	38	chr11	130915437	.	CT	C	2018.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.776;DP=977;ExcessHet=0;FS=2.359;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.4;ReadPosRankSum=0.199;SOR=0.506	GT:AD:DP:GQ:PL	0/1:57,59:116:99:2032,0,1946	18	0	1	0
chr11	134368709	134368709	G	A	exonic	GLB1L2	.	nonsynonymous SNV	GLB1L2:NM_001370461:exon10:c.G955A:p.G319R,GLB1L2:NM_138342:exon10:c.G955A:p.G319R,GLB1L2:NM_001370460:exon11:c.G1117A:p.G373R	.	425	1096	1	0	0	1	0.000455996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.868	.	0.0009	0.00599042	0.0053	0.0009	0.0534	0.0003	0	0.0001	0.0044	0.0001	0.0049094	759	154602	rs138130138	0.0016	0.0016	0.0019	0.0014	0.0484	0.0016	0.0016	0.0467	0.0460	0.0004	0.0484	3.826e-05	0.0006	0	0.0010	7.464e-05	0.0017	0.0002	0.0048	0.0048	0.0039	0.0057	0.0431	0.0045	0.0044	0.0404	0.0393	0.0010	0	0.0431	0	0.0006	0	0	0.0002	0.0038	0.0006	0.0	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	0.999	0.92359	D	0.000001	0.84330	D	0.055211	1	0.81001	D	4.52	0.99038	H	-7.03	0.99831	D	-7.85	0.96058	D	0.993	0.99863	0.186	0.85665	D	0.302	0.67316	T	10	0.024201661	0.00658	T	.	.	.	0.956	0.99253	0.963	0.99627	0.566010919861	0.56265	0.991033348956113	0.99098	0.73479778726	0.62922	0.673351407051	0.63315	T	0.877078	0.97393	D	0.231269	0.76841	D	0.59667	0.96961	D	0.197528954302392	0.20279	T	0.977602	0.92086	D	0.90058076	0.91434	0.8587813	0.92096	0.90058076	0.91436	0.8587813	0.92096	-10.268	0.75501	D	.	.	0.953	0.87237	P	.;.	.;.	6.525936	0.95351	34	0.99933767164601028	0.99488	0.98815	0.87215	D	AEFGBI	0.895117	0.83480	D	0.688989780491311	0.78910	6.967893	0.640589383254785	0.77913	6.771531	0.999999998746674	0.74766	0.634777	0.41761	0	0.588015	0.36545	0	0.643519	0.47002	0	0.567892	0.33627	0	.	.	5.19	5.19	0.71428	9.604000	0.97770	9.857000	0.82030	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.0:1.0:0.0	17.481	0.87567	976	0.04745	Glycoside hydrolase 35, catalytic domain;Glycoside hydrolase 35, catalytic 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	0.002518	0.005051	0.001359	0.005848	0.000000	0.008621	0.003049	0.000000	0.05263	3466.83	38	chr11	134368709	.	G	A	3466.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.79;DP=950;ExcessHet=0.119;FS=0.437;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.97;SOR=0.729	GT:AD:DP:GQ:PL	0/1:62,79:141:99:1945,0,1412	17	0	2	0
chr12	4591261	4591261	G	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.G81C:p.K27N,DYRK4:NM_001371301:exon5:c.G426C:p.K142N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3684	3193.35	94	chr12	4591261	.	G	C	3193.35	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.805;DP=1547;ExcessHet=17.0548;FS=274.024;InbreedingCoeff=-0.5842;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=2.94;ReadPosRankSum=1.24;SOR=12.301	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:37,32:69:99:.:.:311,0,427:.	5	0	14	0
chr12	4591262	4591262	T	C	exonic	DYRK4	.	nonsynonymous SNV	DYRK4:NM_003845:exon3:c.T82C:p.S28P,DYRK4:NM_001371301:exon5:c.T427C:p.S143P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.00440886597753	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.577e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.374	0.11406	T	0.313	0.19539	T	0.0	0.02946	B	0.0	0.01387	B	0.235795	0.03549	N	1.561320	1	0.08975	N	-0.805	0.01590	N	-0.1	0.64264	T	-0.27	0.11366	N	0.079	0.05414	-1.0842	0.06553	T	0.068	0.27743	T	10	0.039215803	0.02395	T	0.004409	0.10781	T	0.089	0.25827	0.325	0.30711	0.42526943336	0.42144	0.11389244541155054	0.11317	0.101335283325	0.11470	0.327304363251	0.14527	T	7.42E-4	0.00347	T	-0.283232	0.10329	T	-0.644619	0.09335	T	0.190787822008133	0.19891	T	0.451055	0.13062	T	0.044260852	0.07044	0.05666178	0.10162	0.044260852	0.07043	0.05666178	0.10161	-3.8	0.20805	T	.	.	0.055	0.00397	B	.;.;.	.;.;.	0.139343	0.05334	1.822	0.72541810839383536	0.10010	0.00255	0.01401	N	AEFDBI	0.036495	0.04872	N	-1.57976836352683	0.01369	0.0596469	-1.57847201873377	0.01787	0.08134935	5.90958891872362E-4	0.07390	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	4.34	-3.92	0.03880	-0.110000	0.10794	-0.393000	0.09462	-0.181000	0.10308	0.001000	0.13787	0.000000	0.08366	0.483000	0.28633	0.3313:0.3776:0.1218:0.1694	0.780	0.00973	834	0.38640	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.08333	163.93	42	chr12	4591262	.	T	C	163.93	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-3.113;DP=1141;ExcessHet=0.3672;FS=123.102;InbreedingCoeff=-0.1016;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=0.73;ReadPosRankSum=0.694;SOR=9.608	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:50,21:71:37:.:.:37,0,1196:.	15	0	3	1
chr12	6451375	6451375	C	G	exonic	CD27	.	nonsynonymous SNV	CD27:NM_001242:exon6:c.C766G:p.P256A	Lymphoproliferative syndrome 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	926719	Lymphoproliferative_syndrome_2	MONDO:MONDO:0014054,MedGen:C3554540,OMIM:615122,Orphanet:238505	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.219	0.0590352389059	.	.	8.336e-06	0	0	0	0	1.519e-05	0	0	6.5e-06	1	154602	rs751930967	6.16e-06	6.156e-06	9.534e-06	2.752e-06	7.195e-06	2.9e-06	2.1e-06	3.1e-06	2.24e-06	0	0	0	0	0	0	7.195e-06	1.658e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	0.47745	D	0.082	0.41573	T	0.793	0.44725	P	0.283	0.40424	B	0.042964	0.01913	N	2.274430	0.990219	0.24200	N	1.75	0.45442	L	-3.7	0.95352	D	-1.74	0.41239	N	0.182	0.19728	0.073	0.83682	D	0.815	0.93780	D	10	0.20669204	0.36939	T	0.059035	0.67525	D	0.219	0.51417	0.17	0.07536	0.987335001779	0.98719	0.1530480821452121	0.15226	0.527081435524	0.50316	0.284620076418	0.08146	T	0.443625	0.78734	T	0.0870362	0.62853	D	-0.112755	0.62391	T	0.452060878276825	0.30873	T	0.60264	0.22576	T	0.09087089	0.21277	0.1641595	0.38042	0.09087089	0.21277	0.1641595	0.38041	-2.208	0.04079	T	.	.	0.077	0.06571	B	.	.	2.809198	0.36980	20.4	0.99045116835821234	0.51118	0.35164	0.25238	N	ALL	0.142048	0.26439	N	-0.1371983375187	0.35781	2.059624	-0.217570552914268	0.30906	1.744255	0.999999999994348	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.239995	0.05000	1	0.249971	0.05119	0	.	.	4.07	3.18	0.35615	1.252000	0.32476	1.264000	0.25249	0.524000	0.24156	0.473000	0.26745	0.421000	0.24807	0.268000	0.23719	0.0:0.8831:0.0:0.1169	7.568	0.27057	861	0.33516	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	913.33	37	chr12	6451375	.	C	G	913.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.508;DP=853;ExcessHet=0;FS=0.969;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.27;ReadPosRankSum=0.156;SOR=0.518	GT:AD:DP:GQ:PL	0/1:28,36:64:99:927,0,660	18	0	1	0
chr12	6778256	6778256	-	G	exonic	LAG3	.	frameshift insertion	LAG3:NM_002286:exon8:c.1445dupG:p.F483Ifs*48	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1955.29	35	chr12	6778256	.	C	CG	1955.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.134;DP=765;ExcessHet=0;FS=2.225;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.28;ReadPosRankSum=-0.482;SOR=0.9	GT:AD:DP:GQ:PL	0/1:65,63:128:99:1969,0,2023	18	0	1	0
chr12	6850587	6850587	A	G	exonic	CDCA3	.	nonsynonymous SNV	CDCA3:NM_001297602:exon3:c.T130C:p.S44P,CDCA3:NM_001297603:exon3:c.T130C:p.S44P,CDCA3:NM_001297604:exon3:c.T130C:p.S44P,CDCA3:NM_031299:exon3:c.T130C:p.S44P	.	416	1046	57	3	0	63	0.0292343	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.154	.	0.0011	0.00239617	0.0042	0.0004	0.0040	0.0001	0	0.0011	0.0066	0.0231	0.003564	551	154602	rs150858074	0.0018	0.0019	0.0012	0.0025	0.0224	0.0018	0.0018	0.0216	0.0212	8.961e-05	0.0018	0.0013	2.519e-05	3.744e-05	0.0097	0.0004	0.0022	0.0224	0.0012	0.0012	0.0009	0.0015	0.0208	0.0010	0.0010	0.0175	0.0163	7.249e-05	0	0.0004	0.0020	0	9.468e-05	0.0034	0.0008	0.0009	0.0208	0.003	0.68238	D	0.005	0.72224	D	0.335	0.33330	B	0.114	0.31755	B	0.004789	0.33389	N	0.293987	0.986275	0.45182	D	2.455	0.71248	M	.	.	.	-1.81	0.57762	N	0.459	0.54496	-0.7274	0.59094	T	0.186	0.53586	T	9	0.006612748	0.00150	T	.	.	.	0.154	0.40340	.	.	0.431952752558	0.42816	0.45802854476548793	0.45720	0.78041944085	0.65269	0.532909572124	0.43444	T	0.193662	0.54920	T	-0.18533	0.22947	T	-0.021404	0.68936	D	0.0810008470602898	0.10115	T	0.793221	0.43505	T	0.46215984	0.64805	0.5441816	0.73653	0.46215984	0.64806	0.5441816	0.73653	-3.572	0.17453	T	.	.	0.448	0.62097	A	.;.;.;.;.	.;.;.;.;.	4.573058	0.72174	25.8	0.99826152259785705	0.90852	0.90070	0.50964	D	AEFDGBCI	0.816385	0.73813	D	0.245040344701089	0.53393	3.508432	0.361695448431946	0.59215	4.097542	0.999999923949678	0.74766	0.542737	0.22433	0	0.685571	0.66316	0	0.685571	0.62057	0	0.638787	0.57140	0	.	.	5.7	5.7	0.88690	4.046000	0.57088	9.183000	0.79090	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.9142:0.0:0.0858:0.0	8.525	0.32460	564	0.70960	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.008560	0.000000	0.008152	0.002924	0.000000	0.017241	0.009146	0.022727	0.05263	1940.83	34	chr12	6850587	.	A	G	1940.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.189;DP=760;ExcessHet=0.119;FS=4.078;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.44;ReadPosRankSum=0.319;SOR=1.057	GT:AD:DP:GQ:PL	0/1:54,31:85:99:820,0,1475	17	0	2	0
chr12	10433940	10433940	G	A	exonic	KLRC2	.	nonsynonymous SNV	KLRC2:NM_002260:exon4:c.C334T:p.R112C	.	496	1025	1	0	0	1	0.000487567	.	.	.	2778510	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.011	0.00115915523723	0.0002	0.000199681	4.384e-05	0.0001	0	0.0001	0	4.738e-05	0	0	0.0001153	3	26028	rs373440622	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0002	0.0002	3.252e-05	4.635e-05	0	0	0	0	0.0002	8.676e-05	1.199e-05	0.0001	0.0001	0.0001	0.0001	0.0003	8.736e-05	7.196e-05	0.0002	0.0001	0	0	0	0	0.0002	0	0	0.0003	0	0	0.216	0.19782	T	0.222	0.72224	T	.	.	.	.	.	.	0.087030	0.02415	N	1.882220	1	0.08975	N	.	.	.	3.53	0.17271	T	0.74	0.02038	N	0.205	0.23758	-1.0215	0.23227	T	0.017	0.06902	T	9	0.040109694	0.02824	T	0.001159	0.01459	T	0.011	0.01250	.	.	0.124217242631	0.12060	0.22205922519808463	0.22120	0.42459538528	0.42886	.	.	.	.	.	.	-0.60291	0.00140	T	-0.839387	0.01108	T	0.0157935500101135	0.00368	T	0.466753	0.13720	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.099	0.32517	B	.;.;.;.	.;.;.;.	0.381771	0.07536	4.186	0.38001407287067851	0.02537	0.00085	0.00571	N	AEFBI	0.017922	0.00505	N	-1.52105792783596	0.01711	0.07490815	-1.57660220412722	0.01799	0.08190094	1.04486277970265E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	2.98	-3.11	0.04975	-1.167000	0.03236	-20.000000	0.00162	-0.280000	0.06433	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.5319:0.2044:0.2637:0.0	3.415	0.06945	872	0.31118	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1176	459.05	33	chr12	10433940	.	G	A	459.05	.	AC=4;AF=0.118;AN=34;BaseQRankSum=-3.195;DP=1912;ExcessHet=0.7564;FS=143.191;InbreedingCoeff=-0.1382;MLEAC=3;MLEAF=0.088;MQ=54.1;MQRankSum=-0.3;QD=0.54;ReadPosRankSum=0.701;SOR=10.787	GT:AD:DP:GQ:PL	0/1:110,32:142:2:2,0,1948	13	0	4	2
chr12	10930916	10930916	C	T	exonic	PRH2	.	nonsynonymous SNV	PRH2:NM_001110213:exon3:c.C355T:p.R119C	.	435	924	162	0	1	163	0.080597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00135719490272	.	.	0.0029	0.0048	0.0017	0.0035	0.0008	0.0036	0	0.0007	0.0001921	5	26028	rs200488155	0.0017	0.0087	0.0012	0.0022	0.0033	0.0017	0.0016	0.0030	0.0029	0.0009	0.0027	0.0003	0.0013	0.0084	0.0014	0.0014	0.0014	0.0033	0.0020	0.0066	0.0021	0.0020	0.0021	0.0018	0.0018	0.0018	0.0017	0.0019	0	0.0018	0.0003	0.0021	0.0034	0	0.0021	0.0031	0.0009	0.003	0.68238	D	0.053	0.47336	T	.	.	.	.	.	.	0.105583	0.02589	U	18.770200	1	0.08975	N	.	.	.	3.6	0.04494	T	-2.67	0.57110	D	0.136	0.16447	-0.9623	0.38742	T	0.014	0.05705	T	10	0.006133795	0.00138	T	0.001357	0.01961	T	0.040	0.10527	.	.	0.043077524339	0.03247	0.42757858420159933	0.42674	2.02830112022	0.94057	0.486923903227	0.37012	T	.	.	.	-0.311255	0.07638	T	-0.684873	0.06690	T	0.0238748472601751	0.01129	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.51798	B	.;.	.;.	1.809367	0.22993	15.84	0.69557796090960189	0.09011	0.00174	0.01026	N	AEFGI	0.041418	0.06294	N	-1.24081326439534	0.04422	0.1995362	-1.38216006772386	0.03442	0.1605599	0.243600485591568	0.18599	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.620846	0.47308	0	.	.	0.865	-0.205	0.12548	0.171000	0.16497	-5.685000	0.01631	0.411000	0.20652	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.0:0.5953:0.4047:0.0	4.703	0.12216	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	0.009740	0.026316	0.001362	0.016667	0.000000	0.008621	0.009434	0.007812	0.2105	2125.21	110	chr12	10930916	.	C	T	2125.21	.	AC=8;AF=0.211;AN=38;BaseQRankSum=2.6;DP=1538;ExcessHet=4.0268;FS=15.864;InbreedingCoeff=-0.2666;MLEAC=8;MLEAF=0.211;MQ=41.25;MQRankSum=0.943;QD=2.77;ReadPosRankSum=-0.264;SOR=2.412	GT:AD:DP:GQ:PL	0/1:73,10:83:99:108,0,2183	11	0	8	0
chr12	11091537	11091538	CA	-	exonic	TAS2R43	.	frameshift deletion	TAS2R43:NM_176884:exon1:c.692_693del:p.V231Dfs*37	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	.	1.21e-05	4.363e-05	1.214e-05	1.206e-05	8.1e-06	7.16e-06	5.8e-06	3.48e-06	2.52e-06	0	0	0.0003	0	0	0	8.1e-06	1.789e-05	0	7.363e-06	7.922e-05	0	1.515e-05	7.483e-05	0	0	.	.	0	0	7.483e-05	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	945.29	228	chr12	11091536	.	TCA	T	945.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.118;DP=4271;ExcessHet=0;FS=1.58;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=56.85;MQRankSum=-12.03;QD=5.91;ReadPosRankSum=1.47;SOR=0.765	GT:AD:DP:GQ:PL	0/1:128,32:160:99:959,0,5252	18	0	1	0
chr12	11353474	11353474	-	GGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	exonic	PRB1	.	nonframeshift insertion	PRB1:NM_001367912:exon7:c.1434_1435insAAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGTAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCAACAAGGAGGCAACAGACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAAGTCCC:p.E479delinsKVPDLLQESHKDHPHKEVTSPKVPHLLQESHKDHPNKEATDLKVPHLQESHKDHPHKETSPE	.	531	945	7	0	39	46	0.00369004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0036	0.0055	0.0042	0.0054	0.0017	0.0025	0	0.0074	.	.	.	.	0.0047	0.0049	0.0045	0.0050	0.0662	0.0046	0.0046	0.0612	0.0593	0.0040	0.0065	0.0131	0.0662	0.0167	0.0024	0.0033	0.0074	0.0029	0	8.638e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.25	15923.7	37	chr12	11353474	.	C	CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTCTGTTGCCTCCTTGTTGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTACCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTT	15923.7	.	AC=6;AF=0.25;AN=24;BaseQRankSum=1.66;DP=4060;ExcessHet=0;FS=2.46;InbreedingCoeff=0.6232;MLEAC=7;MLEAF=0.292;MQ=54.21;MQRankSum=-1.359;QD=17.21;ReadPosRankSum=0.621;SOR=0.641	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,24:24:48:.:.:5004,48,0:.	8	2	2	7
chr12	12149125	12149125	G	A	exonic	LRP6	.	nonsynonymous SNV	LRP6:NM_002336:exon14:c.C3023T:p.P1008L	Tooth agenesis, selective, 7, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.370	0.0604175544044	.	.	6.589e-05	0	8.637e-05	0	0	0.0001	0	0	5.17e-05	8	154602	rs763102419	3.078e-05	3.078e-05	3.131e-05	3.025e-05	3.777e-05	2.347e-05	2.095e-05	2.828e-05	2.507e-05	0	2.236e-05	0	0	0	0	3.777e-05	3.312e-05	0	3.291e-05	3.285e-05	2.573e-05	4.043e-05	7.255e-05	1.262e-05	7.99e-06	1.924e-05	1.033e-05	7.255e-05	0	6.563e-05	0	0	0	0	1.471e-05	0	0	0.086	0.32610	T	0.305	0.20037	T	0.175	0.28858	B	0.03	0.21741	B	0.000559	0.43413	U	0.098576	0.999618	0.47849	D	0.115	0.08564	N	-2.81	0.91134	D	-1.77	0.41809	N	0.229	0.25745	-0.3401	0.73841	T	0.448	0.78324	T	10	0.18688467	0.34174	T	0.060418	0.67993	D	0.370	0.68930	0.538	0.64874	0.535826458596	0.53234	0.4639593161778009	0.46314	0.534637665634	0.50860	0.593390226364	0.51973	T	0.444779	0.78805	T	-0.0713853	0.41103	T	-0.135766	0.60483	T	0.0832841446421765	0.10402	T	.	.	.	0.037954926	0.04964	0.072655015	0.15698	0.037954926	0.04964	0.072655015	0.15698	-3.579	0.17553	T	.	.	0.096	0.23952	B	.;.	.;.	3.273827	0.44829	22.0	0.97160680536740718	0.32629	0.96514	0.69520	D	AEFDBI	0.304781	0.41238	N	-0.259400883574338	0.30730	1.716219	-0.0344629152912917	0.38169	2.245008	0.701091624491579	0.22701	0.706548	0.73137	0	0.708844	0.79440	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.91	5.91	0.95240	2.458000	0.44671	5.880000	0.50633	0.676000	0.76740	0.996000	0.39380	1.000000	0.68203	0.909000	0.44452	0.0:0.0:1.0:0.0	20.301	0.98613	955	0.09969	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1191.33	42	chr12	12149125	.	G	A	1191.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.63;DP=797;ExcessHet=0;FS=3.145;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.205;SOR=1.091	GT:AD:DP:GQ:PL	0/1:33,44:77:99:1205,0,790	18	0	1	0
chr12	21638366	21638366	T	C	exonic	LDHB	.	nonsynonymous SNV	LDHB:NM_001174097:exon6:c.A700G:p.M234V,LDHB:NM_002300:exon6:c.A700G:p.M234V	.	153	1368	1	0	0	1	0.000365364	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.015635208065	.	.	8.246e-06	0	0	0	0	0	0	6.061e-05	6.5e-06	1	154602	rs754069527	4.184e-06	6.842e-06	1.391e-06	6.991e-06	0.0002	1.51e-06	9.9e-07	9.31e-06	4.58e-06	0	0	0	0	0	0.0002	9.2e-07	1.682e-05	3.504e-05	6.589e-06	6.57e-06	1.288e-05	0	1.475e-05	0	0	.	.	0	0	0	0	0	0	0	1.475e-05	0	0	0.011	0.55530	D	0.067	0.44302	T	0.0	0.02946	B	0.002	0.06944	B	0.011454	0.29527	N	0.429354	0.990081	0.41084	D	1.275	0.32135	L	-0.2	0.66113	T	-1.62	0.38924	N	0.337	0.37820	-0.9102	0.46830	T	0.169	0.50939	T	10	0.30118746	0.47662	T	0.015635	0.36485	T	0.071	0.20720	0.472	0.54699	0.779214687457	0.77717	0.5991420976034186	0.59845	0.294151297255	0.31833	0.47282359004	0.35068	T	0.446393	0.78906	T	-0.153892	0.27706	T	-0.358201	0.38261	T	0.116274476051331	0.14061	T	0.549745	0.18930	T	0.41087112	0.61477	0.37464172	0.62625	0.41087112	0.61478	0.37464172	0.62625	-6.646	0.51403	T	.	.	0.156	0.34602	B	.;.	.;.	2.094711	0.26650	17.19	0.95419369161727374	0.26896	0.77826	0.38312	D	AEFBHCI	0.486444	0.52561	N	-0.312749958077849	0.28662	1.582858	-0.220905947502345	0.30787	1.736526	0.999430192498079	0.39683	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.11	0.856	0.18156	0.337000	0.19582	1.547000	0.27267	0.639000	0.52094	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	0.201:0.0:0.2691:0.53	5.809	0.17720	735	0.53711	Lactate/malate dehydrogenase, C-terminal;Lactate/malate dehydrogenase, 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	.	.	.	.	.	.	.	.	0.02632	1245.33	44	chr12	21638366	.	T	C	1245.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.224;DP=1105;ExcessHet=0;FS=9.347;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.09;ReadPosRankSum=0.178;SOR=1.057	GT:AD:DP:GQ:PL	0/1:50,53:103:99:1259,0,1161	18	0	1	0
chr12	32755145	32755145	C	T	exonic	YARS2	.	nonsynonymous SNV	YARS2:NM_001040436:exon1:c.G730A:p.G244R	Myopathy, lactic acidosis, and sideroblastic anemia 2, Autosomal recessive	.	.	.	.	.	.	.	.	.	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	0.967	0.359161516086	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1345057239	1.368e-06	1.368e-06	0	2.75e-06	1.159e-05	2.3e-07	9e-08	.	.	0	0	0	0	0	0	0	1.656e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	4.65	0.99371	H	-3.72	0.95422	D	-7.36	0.94647	D	0.99	0.99725	1.088	0.99146	D	0.953	0.98456	D	10	0.99277556	0.99812	D	0.359162	0.92467	D	0.967	0.99571	0.983	0.99835	0.87456900688	0.87334	0.9596182592128978	0.95947	1.49302492565	0.86914	0.739516615868	0.72902	T	0.698693	0.91304	D	0.493166	0.94088	D	0.567477	0.96189	D	0.999752819538116	0.98831	D	0.971103	0.89589	D	0.97762394	0.98923	0.9908132	0.99984	0.97762394	0.98923	0.9908132	0.99984	-12.995	0.89343	D	0.8919925867649886	0.94634	0.926	0.84680	P	.	.	5.497151	0.91543	32	0.99912758973917637	0.98167	0.60995	0.31356	D	ALL	0.888545	0.82176	D	0.84934341144086	0.89071	9.82318	0.704580888815871	0.82727	7.839096	1.0	0.98316	0.441713	0.08003	0	0.504199	0.08210	0	0.52208	0.10781	0	0.273489	0.05413	2	.	.	5.86	4.97	0.65419	7.635000	0.82446	7.612000	0.61951	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.979000	0.57723	0.0:0.9279:0.0:0.0721	13.462	0.60683	764	0.49969	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2864.33	33	chr12	32755145	.	C	T	2864.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.69;DP=823;ExcessHet=0;FS=0.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.4;ReadPosRankSum=1.38;SOR=0.756	GT:AD:DP:GQ:PL	0/1:75,111:188:99:2878,0,1634	18	0	1	0
chr12	39764776	39764776	G	C	exonic	SLC2A13	.	nonsynonymous SNV	SLC2A13:NM_052885:exon8:c.C1528G:p.L510V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4444	3192.41	61	chr12	39764776	.	G	C	3192.41	.	AC=16;AF=0.444;AN=36;BaseQRankSum=-0.323;DP=1223;ExcessHet=28.6262;FS=348.508;InbreedingCoeff=-0.7653;MLEAC=16;MLEAF=0.444;MQ=60;MQRankSum=0;QD=3.27;ReadPosRankSum=0.863;SOR=12.249	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:35,30:65:99:.:.:160,0,506:.	2	0	16	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2895	55498.9	1319	chr12	40487424	.	T	TCAGGTGTAGTGACAGGGACAACTGGCCC	55498.9	.	AC=11;AF=0.289;AN=38;BaseQRankSum=1.81;DP=21295;ExcessHet=25.4433;FS=1.658;InbreedingCoeff=-0.7273;MLEAC=11;MLEAF=0.289;MQ=56.74;MQRankSum=-28.9;QD=5.62;ReadPosRankSum=-0.745;SOR=1.877	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:906,6:912:99:.:.:2192,0,37655:.	8	0	11	0
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	47426.9	1213	chr12	40487443	.	A	ACCTGGAGTGTCAGCTGGGGTGACAGGGACAATTGGATCACCAGCTGGAGTGACAGGG	47426.9	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-3.612;DP=20984;ExcessHet=20.8569;FS=1.658;InbreedingCoeff=-0.6522;MLEAC=8;MLEAF=0.211;MQ=56.57;MQRankSum=-27.39;QD=4.75;ReadPosRankSum=-2.14;SOR=1.414	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:866,5:871:99:.:.:1372,0,35708:.	11	0	8	0
chr12	40525410	40525410	C	-	exonic	MUC19	.	unknown	UNKNOWN	.	436	1072	13	1	0	15	0.00694766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	.	.	.	.	.	.	.	.	0.0003074	8	26028	rs563397340	0.0049	0.0036	0.0048	0.0049	0.0058	0.0048	0.0047	0.0051	0.0049	0.0009	0.0007	0.0032	0.0002	0.0032	0.0025	0.0051	0.0038	0.0058	0.0033	0.0033	0.0035	0.0030	0.0060	0.0030	0.0029	0.0047	0.0046	0.0008	0	0.0022	0.0032	0	0.0026	0.0034	0.0052	0.0033	0.0060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1568.29	34	chr12	40525409	.	AC	A	1568.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.532;DP=863;ExcessHet=0;FS=0.67;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.85;ReadPosRankSum=0.658;SOR=0.776	GT:AD:DP:GQ:PL	0/1:66,56:122:99:1582,0,1851	18	0	1	0
chr12	42119164	42119164	-	TCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	exonic	GXYLT1	.	stopgain	GXYLT1:NM_001099650:exon2:c.228_229insGAGAGGCGCTGGCAGCGCGGGCCCTGTGGCGCATTCCGGCGGGTGGGACAGGTGTAGA:p.L77Efs*19,GXYLT1:NM_173601:exon3:c.321_322insGAGAGGCGCTGGCAGCGCGGGCCCTGTGGCGCATTCCGGCGGGTGGGACAGGTGTAGA:p.L108Efs*19	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0003	8.664e-05	0.0002	0	0.0002	0	0.0006	.	.	.	.	0.0031	0.0089	0.0017	0.0045	0.0063	0.0030	0.0030	0.0058	0.0057	0.0019	0.0024	0.0017	0.0037	0.0019	0.0011	0.0030	0.0031	0.0063	4.643e-05	0.0019	2.593e-05	6.791e-05	7.298e-05	2.127e-05	1.538e-05	1.935e-05	1.036e-05	7.298e-05	0	0	0	0	9.527e-05	0	4.454e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	274.78	102	chr12	42119164	.	G	GTCTACACCTGTCCCACCCGCCGGAATGCGCCACAGGGCCCGCGCTGCCAGCGCCTCTC	274.78	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.178;DP=1443;ExcessHet=0;FS=27.087;InbreedingCoeff=-0.0271;MLEAC=1;MLEAF=0.026;MQ=57.3;MQRankSum=-7.049;QD=3.87;ReadPosRankSum=-2.046;SOR=3.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:60,11:71:99:.:.:273,0,2489:.	18	0	1	0
chr12	51706661	51706661	G	C	exonic	SCN8A	.	nonsynonymous SNV	SCN8A:NM_001177984:exon11:c.G1581C:p.K527N,SCN8A:NM_001330260:exon11:c.G1581C:p.K527N,SCN8A:NM_001369788:exon11:c.G1581C:p.K527N,SCN8A:NM_014191:exon11:c.G1581C:p.K527N	Epileptic encephalopathy, early infantile, 13, Autosomal dominant;Seizures, benign familial infantile, 5, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.252	0.0719142025239	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.392e-06	3.968e-05	1.38e-06	1.404e-06	3.092e-05	2.3e-07	9e-08	.	.	3.092e-05	0	0	0	0	0	9.097e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.72154	D	0.223	0.33109	T	0.431	0.35606	B	0.315	0.41566	B	0.000179	0.48594	D	0.184301	0.816986	0.28930	N	2.195	0.61839	M	-2.82	0.91192	D	-2.89	0.62747	D	0.442	0.53445	0.033	0.82901	D	0.626	0.86854	D	10	0.24059924	0.41222	T	0.071914	0.71394	D	0.252	0.56159	0.33	0.31519	0.902646408154	0.90167	0.5674523308067984	0.56673	1.41807407564	0.85568	0.605724453926	0.53712	T	0.703665	0.91489	D	-0.0247068	0.48179	T	-0.273266	0.47488	T	0.927446901798248	0.59031	D	0.789921	0.45664	T	0.2993846	0.52850	0.29699904	0.55732	0.2993846	0.52850	0.29699904	0.55732	-3.007	0.12177	T	.	.	0.476	0.68156	A	.;.;.;.;.;.;.	.;.;.;.;.;.;.	2.650273	0.34508	19.65	0.9983572789978995	0.91714	0.18883	0.20441	N	AEFBI	0.095722	0.19336	N	-0.290515847983622	0.29512	1.637351	-0.293922467393298	0.28298	1.576831	0.186781275037378	0.17948	0.706548	0.73137	0	0.59043	0.45803	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	4.41	2.46	0.29032	0.104000	0.15148	1.189000	0.24752	0.676000	0.76740	0.600000	0.27747	1.000000	0.68203	0.996000	0.76049	0.4379:0.0:0.5621:0.0	7.062	0.24310	579	0.69780	Voltage-gated Na+ ion channel, cytoplasmic domain;Voltage-gated Na+ ion channel, cytoplasmic domain;.;.;.;.;Voltage-gated Na+ ion channel, cytoplasmic domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2941	1136.65	43	chr12	51706661	.	G	C	1136.65	.	AC=10;AF=0.294;AN=34;BaseQRankSum=-2.366;DP=1341;ExcessHet=6.9875;FS=163.767;InbreedingCoeff=-0.4405;MLEAC=11;MLEAF=0.324;MQ=60;MQRankSum=0;QD=1.7;ReadPosRankSum=1.93;SOR=11.652	GT:AD:DP:GQ:PL	0/1:39,19:63:57:57,0,760	7	0	10	2
chr12	52822053	52822053	A	G	exonic	KRT79	.	nonsynonymous SNV	KRT79:NM_175834:exon9:c.T1427C:p.V476A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.180	0.00843040620311	.	.	8.384e-06	0	0	0	0	0	0	6.096e-05	6.5e-06	1	154602	rs746481989	1.368e-06	1.368e-06	0	2.75e-06	2.319e-05	2.3e-07	9e-08	3.85e-06	1.44e-06	0	0	0	0	0	0	0	0	2.319e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.577	0.08594	T	0.329	0.33227	B	0.057	0.26280	B	0.161575	0.17647	N	0.471995	0.999604	0.20887	N	2.075	0.57047	M	-2.18	0.86722	D	0.27	0.04306	N	0.271	0.30687	-0.7683	0.56951	T	0.349	0.71336	T	10	0.093174756	0.16467	T	0.00843	0.22307	T	0.180	0.45073	0.371	0.38176	0.53832913131	0.53483	0.29575159730917294	0.29488	0.12432472506	0.13995	0.597884535789	0.52606	T	0.00337	0.02778	T	-0.106977	0.35268	T	-0.209914	0.53704	T	0.093794971704483	0.11660	T	0.244276	0.03572	T	0.025943642	0.01591	0.033484194	0.02250	0.025943642	0.01591	0.033484194	0.02250	-4.855	0.35225	T	.	.	0.124	0.25946	B	.	.	1.298087	0.16994	12.89	0.96275056011513815	0.29263	0.08778	0.14656	N	AEFDBI	0.046560	0.07744	N	-0.584311827616364	0.19420	1.016285	-0.544594426307544	0.20948	1.131034	0.940977930453779	0.27456	0.497415	0.19182	0	0.59043	0.45803	0	0.547309	0.15389	0	0.542086	0.14980	0	.	.	4.21	3.06	0.34374	1.972000	0.40163	.	.	0.756000	0.94297	0.004000	0.16614	0.212000	0.23650	0.723000	0.34869	0.8642:0.0:0.1358:0.0	5.534	0.16289	572	0.70300	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	653.33	35	chr12	52822053	.	A	G	653.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.532;DP=707;ExcessHet=0;FS=3.008;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.51;ReadPosRankSum=-0.419;SOR=0.807	GT:AD:DP:GQ:PL	0/1:58,29:87:99:667,0,1563	18	0	1	0
chr12	53061154	53061154	G	A	exonic	TNS2	.	nonsynonymous SNV	TNS2:NM_015319:exon20:c.G3278A:p.G1093E,TNS2:NM_170754:exon20:c.G3248A:p.G1083E,TNS2:NM_198316:exon20:c.G2876A:p.G959E	.	416	1100	6	0	0	6	0.00271985	.	.	.	796799	TNS2-related_disorder|not_specified|not_provided	.|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.470	0.0795756466526	0.0005	0.000399361	0.0007	0.0001	8.673e-05	0	0	0.0011	0.0012	0.0006	0.0006533	101	154602	rs139881378	0.0005	0.0005	0.0005	0.0005	0.0014	0.0005	0.0004	0.0007	0.0005	8.987e-05	0.0003	0.0085	0	1.893e-05	0.0014	0.0003	0.0013	0.0005	0.0005	0.0005	0.0005	0.0005	0.0014	0.0004	0.0004	0.0007	0.0005	2.405e-05	0	0.0005	0.0092	0	0	0	0.0004	0.0005	0.0014	0.023	0.50132	D	0.076	0.49120	T	0.188	0.73220	B	0.135	0.63802	B	0.046646	0.23419	N	0.442226	0.790419	0.29232	N	.	.	.	-3.44	0.94469	D	-2.67	0.58407	D	0.663	0.67218	0.272	0.87102	D	0.833	0.94419	D	10	0.009141624	0.00207	T	0.079576	0.73267	D	0.470	0.76421	.	.	0.403609169532	0.39974	0.3024018777301248	0.30153	0.924845224075	0.71602	0.609047055244	0.54180	T	0.63581	0.88770	D	-0.0701058	0.41310	T	0.0279639	0.72146	D	0.0306202726066503	0.02086	T	0.910909	0.70392	D	0.2625106	0.49313	0.28004578	0.53977	0.2625106	0.49313	0.28004578	0.53976	-3.955	0.23248	T	.	.	0.131	0.41557	B	.;.;.;.;.;.	.;.;.;.;.;.	3.834872	0.55457	23.6	0.99597041628842786	0.73983	0.55988	0.30003	D	AEFDGBCI	0.428039	0.49173	N	0.0848129862562433	0.45754	2.826759	0.098532864531189	0.44475	2.728573	0.999999979874007	0.74766	0.722319	0.85440	0	0.514364	0.08380	0	0.696353	0.63694	0	0.735409	0.98432	0	.	.	4.46	4.46	0.53567	3.850000	0.55627	11.442000	0.92771	0.676000	0.76740	0.983000	0.35670	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	12.816	0.57045	759	0.50631	.;.;.;.;.;.	.	.	.	.	.	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	0.003525	0.000000	0.004076	0.000000	0.000000	0.008621	0.006098	0.003788	0.02632	1738.33	40	chr12	53061154	.	G	A	1738.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.3;DP=789;ExcessHet=0;FS=1.444;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.58;ReadPosRankSum=-1.624;SOR=0.544	GT:AD:DP:GQ:PL	0/1:66,62:128:99:1752,0,1715	18	0	1	0
chr12	55321464	55321464	A	C	exonic	OR6C1	.	nonsynonymous SNV	OR6C1:NM_001005182:exon1:c.A865C:p.S289R	.	428	1048	45	1	0	47	0.0219319	.	.	.	2807066	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.219	.	0.0052	0.00139776	0.0054	0.0010	0.0061	0.0001	0.0006	0.0076	0.0110	0.0036	0.0052005	804	154602	rs141094641	0.0051	0.0051	0.0049	0.0052	0.0314	0.0050	0.0049	0.0277	0.0262	0.0014	0.0059	0.0349	2.52e-05	0.0004	0.0314	0.0047	0.0074	0.0040	0.0046	0.0046	0.0048	0.0043	0.0059	0.0043	0.0042	0.0052	0.0050	0.0009	0	0.0059	0.0358	0	0.0005	0.0442	0.0056	0.0076	0.0052	0.0	0.91255	D	0.0	0.92824	D	0.575	0.38708	P	0.382	0.43908	B	0.000052	0.53742	D	0.080364	1	0.08975	N	2.81	0.81869	M	1.09	0.39223	T	-2.14	0.48523	N	0.595	0.61426	-0.7955	0.55409	T	0.144	0.46660	T	10	0.006237328	0.00141	T	.	.	.	0.219	0.51417	0.733	0.86633	0.670434146419	0.66765	0.4117765149494357	0.41093	0.0552029983548	0.06109	0.194632589817	0.00318	T	0.030314	0.21516	T	-0.379325	0.03146	T	-0.315454	0.43071	T	0.0654558882466003	0.07998	T	0.942106	0.78341	D	0.86085105	0.88151	0.85457575	0.91812	0.86085105	0.88153	0.85457575	0.91813	-9.011	0.67769	D	.	.	0.791	0.76883	P	.;.	.;.	2.732240	0.35768	19.98	0.9952301045189802	0.69346	0.26884	0.23121	N	AEFBI	0.104890	0.20974	N	0.076724186239751	0.45379	2.795396	0.0321144469860912	0.41215	2.472428	1.07706437557489E-4	0.05123	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.34	5.34	0.75982	1.185000	0.31675	.	.	0.728000	0.85494	0.038000	0.20882	0.002000	0.18203	0.946000	0.48989	1.0:0.0:0.0:0.0	15.134	0.72222	862	0.33134	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.030211	0.040404	0.032609	0.040936	0.000000	0.034483	0.009146	0.011364	0.02632	2482.33	43	chr12	55321464	.	A	C	2482.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.031;DP=932;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.27;ReadPosRankSum=-1.543;SOR=0.663	GT:AD:DP:GQ:PL	0/1:80,107:187:99:2496,0,2007	18	0	1	0
chr12	55452341	55452341	T	C	exonic	OR6C2	.	nonsynonymous SNV	OR6C2:NM_054105:exon1:c.T128C:p.I43T	.	434	1061	25	2	0	29	0.0134821	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.282	0.0016528426431	0.0015	0.000998403	0.0024	9.615e-05	0.0017	0.0001	0.0005	0.0033	0.0011	0.0024	0.0022121	342	154602	rs145941340	0.0019	0.0019	0.0018	0.0020	0.0125	0.0018	0.0018	0.0102	0.0093	0.0005	0.0021	0.0105	2.52e-05	0.0002	0.0125	0.0017	0.0027	0.0026	0.0018	0.0018	0.0019	0.0017	0.0030	0.0016	0.0015	0.0023	0.0021	0.0002	0	0.0030	0.0112	0	0.0003	0.0272	0.0022	0.0005	0.0029	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.989	0.78396	D	0.000016	0.62929	D	0.000000	0.790344	0.34378	D	2.655	0.77738	M	6.76	0.00492	T	-4.51	0.78222	D	0.344	0.38541	-1.0369	0.18264	T	0.008	0.02679	T	10	0.0125878155	0.00270	T	0.001653	0.02702	T	0.282	0.59981	.	.	0.420073118136	0.41620	0.19720575795594664	0.19637	0.00552308939964	0.00483	0.307860404253	0.11583	T	0.041707	0.25945	T	-0.264687	0.12355	T	-0.157597	0.58567	T	0.0822868449318139	0.10277	T	0.868313	0.57032	D	0.6321535	0.74413	0.54170585	0.73513	0.6321535	0.74414	0.54170585	0.73513	-10.371	0.76103	D	.	.	0.712	0.73446	P	.;.;.	.;.;.	3.067158	0.41210	21.3	0.99425988388501674	0.64032	0.99092	0.91107	D	AEFI	0.676045	0.64122	D	0.625462624378572	0.74788	6.192773	0.47252562369448	0.66174	4.918085	0.0541079763769736	0.14960	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.42	5.42	0.78666	5.926000	0.69791	.	.	0.645000	0.52629	0.993000	0.37899	0.951000	0.29025	0.001000	0.02609	0.0:0.0:0.0:1.0	14.421	0.66755	783	0.47268	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	0.012085	0.020202	0.012228	0.014620	0.000000	0.008621	0.006098	0.003788	0.02632	1164.33	33	chr12	55452341	.	T	C	1164.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.483;DP=759;ExcessHet=0;FS=1.425;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.56;ReadPosRankSum=-0.544;SOR=0.879	GT:AD:DP:GQ:PL	0/1:84,52:136:99:1178,0,2222	18	0	1	0
chr12	56716773	56716773	G	C	exonic	NACA	.	nonsynonymous SNV	NACA:NM_001365896:exon3:c.C4757G:p.T1586S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.00305659900259	.	.	9.816e-06	0	0	0	0	1.699e-05	0	0	6.5e-06	1	154602	rs767225318	1.64e-06	2.736e-06	1.602e-06	1.679e-06	2.057e-06	2.7e-07	1e-07	3.4e-07	1.3e-07	0	0	0	0	0	0	2.057e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.991	0.02359	T	0.068	0.23728	B	0.014	0.16862	B	.	.	.	.	1	0.08975	N	.	.	.	0.86	0.46777	T	0.5	0.02945	N	0.101	0.08366	-1.0337	0.19268	T	0.064	0.26420	T	7	0.065919876	0.08966	T	0.003057	0.06606	T	0.039	0.10176	0.258	0.20002	0.143124449307	0.13826	.	.	.	.	.	.	.	0.054013	0.29605	T	-0.338711	0.05478	T	-0.678114	0.07099	T	0.0160011250896684	0.00381	T	0.29797	0.05545	T	0.088434465	0.20628	0.04913326	0.07443	0.088434465	0.20628	0.04913326	0.07442	-6.613	0.51153	T	.	.	0.185	0.40065	B	.	.	0.222103	0.06044	2.485	0.22551627331878571	0.00912	0.30145	0.24006	N	AEFDBHCI	0.103815	0.20788	N	-0.895325869115206	0.10953	0.5260411	-0.976878655503586	0.10306	0.5182001	0.999970967611248	0.50053	0.729952	0.87565	0	0.585951	0.33947	0	0.536957	0.11973	0	0.636168	0.56350	0	.	.	3.89	0.899	0.18403	0.283000	0.18605	0.707000	0.20898	0.520000	0.23804	0.000000	0.06391	0.034000	0.21380	0.175000	0.21139	0.2912:0.0:0.546:0.1628	4.156	0.09728	45	0.97767	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.1944	296.73	32	chr12	56716773	.	G	C	296.73	.	AC=7;AF=0.194;AN=36;BaseQRankSum=-3.781;DP=1467;ExcessHet=2.9153;FS=130.34;InbreedingCoeff=-0.2316;MLEAC=7;MLEAF=0.194;MQ=60;MQRankSum=0;QD=0.45;ReadPosRankSum=0.525;SOR=10.021	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:66,16:82:30:.:.:30,0,1515:.	11	0	7	1
chr12	68315054	68315054	C	T	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G553A:p.D185N,MDM1:NM_001205028:exon9:c.G1288A:p.D430N,MDM1:NM_001354970:exon9:c.G1273A:p.D425N,MDM1:NM_001368282:exon9:c.G583A:p.D195N,MDM1:NM_017440:exon9:c.G1393A:p.D465N,MDM1:NM_001354969:exon10:c.G1423A:p.D475N,MDM1:NM_001354972:exon10:c.G583A:p.D195N,MDM1:NM_001354973:exon10:c.G583A:p.D195N,MDM1:NM_001354971:exon11:c.G583A:p.D195N	.	.	.	.	.	.	.	.	.	.	.	2725896	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.014	0.00151025538646	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1228408527	7.525e-06	7.524e-06	9.528e-06	5.5e-06	2.987e-05	4.04e-06	2.95e-06	4.55e-06	3.32e-06	2.987e-05	0	0	0	0	0	8.993e-06	0	0	6.569e-06	6.563e-06	0	1.344e-05	0.0002	0	0	.	.	0	0	0	0	0.0002	0	0	0	0	0	0.405	0.10311	T	0.329	0.18617	T	0.221	0.30336	B	0.01	0.14941	B	0.646279	0.10554	N	0.844596	1	0.08975	N	0	0.06538	N	2.0	0.21473	T	-0.2	0.10136	N	0.104	0.14622	-0.9869	0.33371	T	0.025	0.10643	T	9	0.05858156	0.06910	T	0.00151	0.02343	T	0.014	0.01968	0.238	0.16912	0.0297737177859	0.01360	0.02961286069196749	0.02910	0.0481602307982	0.05259	0.279046833515	0.07360	T	0.017805	0.14461	T	-0.388783	0.02739	T	-0.780751	0.02431	T	0.0366765771395218	0.03098	T	0.530047	0.17581	T	0.031803608	0.03088	0.024364999	0.00454	0.031803608	0.03087	0.024364999	0.00454	-4.132	0.25877	T	.	.	0.069	0.04316	B	.;.	.;.	0.566699	0.09351	6.133	0.85240960411871092	0.15771	0.03530	0.08719	N	AEFBI	0.036206	0.04786	N	-1.14442591252093	0.05872	0.2688437	-1.27193761571658	0.04814	0.2279789	0.0380616760858381	0.14329	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	0.753	-0.529	0.11307	0.060000	0.14220	0.066000	0.14196	0.333000	0.19617	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7511:0.0:0.2489	5.376	0.15468	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	194.33	42	chr12	68315054	.	C	T	194.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.527;DP=1137;ExcessHet=0;FS=93.271;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.83;ReadPosRankSum=1.06;SOR=6.665	GT:AD:DP:GQ:PL	0/1:207,26:234:99:208,0,8298	18	0	1	0
chr12	68315057	68315057	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G550C:p.D184H,MDM1:NM_001205028:exon9:c.G1285C:p.D429H,MDM1:NM_001354970:exon9:c.G1270C:p.D424H,MDM1:NM_001368282:exon9:c.G580C:p.D194H,MDM1:NM_017440:exon9:c.G1390C:p.D464H,MDM1:NM_001354969:exon10:c.G1420C:p.D474H,MDM1:NM_001354972:exon10:c.G580C:p.D194H,MDM1:NM_001354973:exon10:c.G580C:p.D194H,MDM1:NM_001354971:exon11:c.G580C:p.D194H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00196230859428	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.856e-05	0.0003	1.916e-05	1.795e-05	3e-05	1.271e-05	1.089e-05	1.303e-05	1.112e-05	3e-05	0	3.832e-05	0	0	0	1.99e-05	3.326e-05	1.161e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.47745	D	0.101	0.39040	T	0.138	0.27452	B	0.027	0.21085	B	0.325098	0.04097	N	1.517130	1	0.08975	N	0	0.06538	N	1.97	0.22067	T	-1.32	0.33197	N	0.201	0.27910	-1.0150	0.25336	T	0.023	0.09741	T	9	0.071266085	0.10482	T	0.001962	0.03509	T	0.012	0.01476	0.126	0.03173	0.0138822411134	0.00435	0.061463803675946296	0.06086	0.108187199226	0.12199	0.297671884298	0.10055	T	0.036766	0.24227	T	-0.286019	0.10038	T	-0.648623	0.09051	T	0.0697529114174026	0.08617	T	0.270573	0.05606	T	0.052654143	0.09850	0.075408004	0.16598	0.052654143	0.09850	0.075408004	0.16598	-6.062	0.46795	T	.	.	0.091	0.13032	B	.;.	.;.	0.959842	0.13364	9.868	0.29956238085758846	0.01615	0.03517	0.08699	N	AEFBI	0.049707	0.08616	N	-1.74950743609334	0.00681	0.02937809	-1.83612441707929	0.00650	0.02891701	0.978128700104782	0.29889	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.74	-6.78	0.01559	-0.498000	0.06502	-0.543000	0.08571	-1.956000	0.00480	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.0:0.2332:0.1057:0.6611	9.908	0.40559	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	188.33	42	chr12	68315057	.	C	G	188.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.378;DP=1113;ExcessHet=0;FS=91.13;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.8;ReadPosRankSum=1.57;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,27:236:99:0|1:68315057_C_G:202,0,8373:68315057	18	0	1	0
chr12	68315058	68315058	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G549C:p.E183D,MDM1:NM_001205028:exon9:c.G1284C:p.E428D,MDM1:NM_001354970:exon9:c.G1269C:p.E423D,MDM1:NM_001368282:exon9:c.G579C:p.E193D,MDM1:NM_017440:exon9:c.G1389C:p.E463D,MDM1:NM_001354969:exon10:c.G1419C:p.E473D,MDM1:NM_001354972:exon10:c.G579C:p.E193D,MDM1:NM_001354973:exon10:c.G579C:p.E193D,MDM1:NM_001354971:exon11:c.G579C:p.E193D	.	.	.	.	.	.	.	.	.	.	.	3289098	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.015	0.0162907195268	.	.	2.471e-05	0	8.637e-05	0.0001	0	1.498e-05	0	0	1.94e-05	3	154602	rs761653386	4.791e-06	4.105e-05	6.81e-06	2.751e-06	2.988e-05	1.99e-06	1.28e-06	3e-07	1.1e-07	2.988e-05	2.236e-05	0	2.519e-05	0	0	1.8e-06	1.656e-05	1.16e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.097	0.30943	T	0.063	0.45110	T	0.787	0.44504	P	0.298	0.40966	B	0.362119	0.13654	N	0.695306	1	0.08975	N	0.695	0.17993	N	1.85	0.24472	T	-1.5	0.36586	N	0.15	0.24260	-1.0381	0.17893	T	0.030	0.12935	T	9	0.07497659	0.11530	T	0.016291	0.37474	T	0.015	0.02232	0.215	0.13498	0.0138822411134	0.00435	0.032169095193184616	0.03164	0.306213775915	0.32924	0.23284393549	0.02185	T	0.044178	0.26736	T	-0.391333	0.02638	T	-0.630771	0.10356	T	0.191752582788467	0.19947	T	0.378562	0.09103	T	0.14788155	0.33787	0.102234356	0.24496	0.14788155	0.33786	0.102234356	0.24495	-3.799	0.21433	T	.	.	0.082	0.10111	B	.;.	.;.	-0.285002	0.02684	0.347	0.962885943470556	0.29305	0.03546	0.08744	N	AEFBI	0.059913	0.11349	N	-0.982395159602214	0.08979	0.4231447	-1.1659861758829	0.06486	0.3123426	0.286705760964225	0.19044	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.74	-4.28	0.03475	-1.253000	0.02987	-1.467000	0.05373	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.0:0.322:0.1587:0.5193	6.444	0.21066	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	229.33	42	chr12	68315058	.	C	G	229.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.597;DP=937;ExcessHet=0;FS=93.801;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.98;ReadPosRankSum=1.38;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:208,26:235:99:0|1:68315057_C_G:243,0,8340:68315057	18	0	1	0
chr12	68315060	68315060	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G547C:p.E183Q,MDM1:NM_001205028:exon9:c.G1282C:p.E428Q,MDM1:NM_001354970:exon9:c.G1267C:p.E423Q,MDM1:NM_001368282:exon9:c.G577C:p.E193Q,MDM1:NM_017440:exon9:c.G1387C:p.E463Q,MDM1:NM_001354969:exon10:c.G1417C:p.E473Q,MDM1:NM_001354972:exon10:c.G577C:p.E193Q,MDM1:NM_001354973:exon10:c.G577C:p.E193Q,MDM1:NM_001354971:exon11:c.G577C:p.E193Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.0207637212828	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.842e-07	1.3e-05	0	1.375e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.11	0.29158	T	0.161	0.31326	T	0.928	0.51611	P	0.408	0.44733	B	0.362119	0.13654	N	0.695306	1	0.08975	N	1.245	0.31408	L	1.84	0.24656	T	-0.95	0.25332	N	0.112	0.19861	-1.0585	0.12134	T	0.044	0.18783	T	9	0.07721999	0.12161	T	0.020764	0.43417	T	0.022	0.04323	0.227	0.15257	0.0138822411134	0.00435	0.0658389026380427	0.06522	0.318609977021	0.34082	0.230100348592	0.01975	T	0.024413	0.18453	T	-0.230759	0.16550	T	-0.569246	0.15520	T	0.169440805912018	0.18542	T	0.458254	0.13193	T	0.11869084	0.27959	0.050728	0.08021	0.11869084	0.27959	0.050728	0.08020	-5.997	0.46254	T	.	.	0.101	0.20117	B	.;.	.;.	1.564316	0.20031	14.56	0.95058437844600807	0.26083	0.11680	0.16792	N	AEFBI	0.062126	0.11922	N	-0.607554815234127	0.18717	0.9739345	-0.769743800062424	0.15238	0.8004049	0.0391899243322302	0.14382	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	0.356	0.15310	0.769000	0.26267	0.374000	0.17708	0.599000	0.40250	0.003000	0.16062	0.000000	0.08366	0.102000	0.18378	0.1533:0.6017:0.1499:0.095	4.542	0.11460	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	223.33	42	chr12	68315060	.	C	G	223.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.241;DP=939;ExcessHet=0;FS=92.784;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.94;ReadPosRankSum=1.98;SOR=6.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:210,28:238:99:0|1:68315057_C_G:237,0,8434:68315057	18	0	1	0
chr12	68315061	68315061	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G546C:p.E182D,MDM1:NM_001205028:exon9:c.G1281C:p.E427D,MDM1:NM_001354970:exon9:c.G1266C:p.E422D,MDM1:NM_001368282:exon9:c.G576C:p.E192D,MDM1:NM_017440:exon9:c.G1386C:p.E462D,MDM1:NM_001354969:exon10:c.G1416C:p.E472D,MDM1:NM_001354972:exon10:c.G576C:p.E192D,MDM1:NM_001354973:exon10:c.G576C:p.E192D,MDM1:NM_001354971:exon11:c.G576C:p.E192D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	0.0031827643436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.181	0.21884	T	0.359	0.17014	T	0.005	0.12996	B	0.011	0.15521	B	0.203767	0.16534	N	0.601628	1	0.08975	N	2.095	0.58118	M	1.92	0.23082	T	-1.65	0.39503	N	0.073	0.11054	-1.0002	0.29860	T	0.033	0.14117	T	9	0.052917123	0.05401	T	0.003183	0.06966	T	0.011	0.01250	0.161	0.06507	0.0138822411134	0.00435	0.037265768819089454	0.03673	0.0562031697788	0.06208	0.215513035655	0.01067	T	0.082096	0.36749	T	-0.300284	0.08633	T	-0.669114	0.07665	T	0.0426887050271034	0.04181	T	0.374863	0.09932	T	0.0684382	0.14910	0.07738928	0.17236	0.0684382	0.14910	0.07738928	0.17236	-4.467	0.31188	T	.	.	0.093	0.14201	B	.;.	.;.	0.414059	0.07849	4.546	0.87582068365062615	0.17331	0.04595	0.10248	N	AEFBI	0.041789	0.06400	N	-1.07124952976041	0.07177	0.332625	-1.12447118557157	0.07235	0.3511444	0.037332668385275	0.14292	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	-0.395	0.11811	-0.395000	0.07347	-4.699000	0.02027	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.111000	0.18785	0.0:0.668:0.0:0.332	9.274	0.36846	926	0.17793	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	217.33	42	chr12	68315061	.	C	G	217.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.985;DP=941;ExcessHet=0;FS=94.723;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.91;ReadPosRankSum=1.82;SOR=6.665	GT:AD:DP:GQ:PL	0/1:212,26:239:99:231,0,8492	18	0	1	0
chr12	68315063	68315063	C	G	exonic	MDM1	.	nonsynonymous SNV	MDM1:NM_001354974:exon8:c.G544C:p.E182Q,MDM1:NM_001205028:exon9:c.G1279C:p.E427Q,MDM1:NM_001354970:exon9:c.G1264C:p.E422Q,MDM1:NM_001368282:exon9:c.G574C:p.E192Q,MDM1:NM_017440:exon9:c.G1384C:p.E462Q,MDM1:NM_001354969:exon10:c.G1414C:p.E472Q,MDM1:NM_001354972:exon10:c.G574C:p.E192Q,MDM1:NM_001354973:exon10:c.G574C:p.E192Q,MDM1:NM_001354971:exon11:c.G574C:p.E192Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.00342059953463	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs750682129	6.84e-07	1.368e-06	0	1.375e-06	8.993e-07	0	0	.	.	0	0	0	0	0	0	8.993e-07	0	0	6.574e-06	6.568e-06	1.285e-05	0	2.415e-05	0	0	.	.	2.415e-05	0	0	0	0	0	0	0	0	0	0.18	0.21968	T	0.306	0.19972	T	0.963	0.55692	D	0.626	0.51600	P	0.203767	0.16534	N	0.601628	1	0.08975	N	2.095	0.58118	M	1.85	0.24472	T	-1.84	0.43149	N	0.183	0.25499	-1.0764	0.08063	T	0.078	0.31193	T	9	0.09465468	0.16848	T	0.003421	0.07694	T	0.029	0.06676	0.16	0.06396	0.0297737177859	0.01360	0.08663214562108784	0.08597	0.0609736430081	0.06783	0.215153425932	0.01049	T	0.177327	0.52758	T	-0.388779	0.02739	T	-0.614703	0.11606	T	0.210991099476814	0.21005	T	0.451055	0.13966	T	0.07431545	0.16670	0.054519583	0.09394	0.07431545	0.16669	0.054519583	0.09393	-5.716	0.43836	T	.	.	0.099	0.16756	B	.;.	.;.	1.411540	0.18270	13.64	0.97601516828540724	0.34853	0.08619	0.14523	N	AEFBI	0.062606	0.12045	N	-0.364199966981064	0.26753	1.462543	-0.553687562118745	0.20708	1.116928	0.121320329683277	0.16888	0.706298	0.61202	0	0.653731	0.59785	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	3.56	2.66	0.30672	0.164000	0.16359	1.308000	0.25520	0.599000	0.40250	0.001000	0.13787	0.172000	0.23351	0.112000	0.18829	0.0:0.786:0.0:0.214	7.710	0.27839	926	0.17793	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	230.33	42	chr12	68315063	.	C	G	230.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-7.465;DP=945;ExcessHet=0;FS=97.38;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.96;ReadPosRankSum=2.15;SOR=6.735	GT:AD:DP:GQ:PL	0/1:211,28:239:99:244,0,8449	18	0	1	0
chr12	81268054	81268054	C	T	exonic	PPFIA2	.	nonsynonymous SNV	PPFIA2:NM_001220479:exon17:c.G1952A:p.R651H,PPFIA2:NM_001220480:exon18:c.G902A:p.R301H,PPFIA2:NM_001220477:exon25:c.G3041A:p.R1014H,PPFIA2:NM_001220478:exon25:c.G3029A:p.R1010H,PPFIA2:NM_001282536:exon26:c.G2885A:p.R962H,PPFIA2:NM_001220475:exon27:c.G3281A:p.R1094H,PPFIA2:NM_001220473:exon28:c.G3344A:p.R1115H,PPFIA2:NM_001220474:exon28:c.G3299A:p.R1100H,PPFIA2:NM_001220476:exon28:c.G3326A:p.R1109H,PPFIA2:NM_003625:exon29:c.G3344A:p.R1115H	.	441	1045	36	0	0	36	0.0169332	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.536	.	0.0070	0.00399361	0.0115	0.0022	0.0058	0	0.0012	0.0140	0.0080	0.0199	0.0064423	996	154602	rs61756413	0.0086	0.0086	0.0083	0.0088	0.0137	0.0084	0.0084	0.0130	0.0128	0.0014	0.0034	0.0102	0.0001	0.0014	0.0113	0.0092	0.0083	0.0137	0.0053	0.0054	0.0055	0.0052	0.0143	0.0050	0.0049	0.0116	0.0106	0.0014	0	0.0024	0.0118	0.0002	0.0008	0.0105	0.0086	0.0053	0.0143	0.218	0.20988	T	0.291	0.20944	T	1.0	0.90584	D	0.992	0.80445	D	0.000000	0.84330	D	0.000000	1	0.81001	D	0.835	0.21042	L	-1.92	0.84773	D	-0.11	0.23372	N	0.56	0.66700	0.114	0.84433	D	0.615	0.86389	D	10	0.013827771	0.00292	T	.	.	.	0.536	0.80545	.	.	0.930576009411	0.92986	0.39334430205409027	0.39249	1.42373316533	0.85663	0.761375904083	0.76134	T	0.058123	0.30755	T	-0.111376	0.34542	T	0.0789164	0.75505	D	0.0156376510572331	0.00358	T	0.929607	0.74365	D	0.35029003	0.57090	0.29099292	0.55124	0.35029003	0.57090	0.29099292	0.55123	-7.346	0.61404	T	.	.	0.087	0.28027	B	.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.	5.561971	0.92146	32	0.99394218987553684	0.62474	0.97156	0.73019	D	AEFHI	0.897733	0.84025	D	0.68250432754919	0.78488	6.881378	0.715415096013723	0.83549	8.050912	0.999999999999919	0.74766	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.542086	0.14980	0	.	.	5.91	5.91	0.95240	6.163000	0.71702	7.669000	0.64672	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:1.0:0.0:0.0	20.305	0.98622	766	0.49742	.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;Sterile alpha motif domain|Sterile alpha motif domain|Sterile alpha motif domain|Liprin-alpha, SAM domain repeat 3;.;.;.;.	.	.	.	.	.	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	0.010574	0.010101	0.008152	0.005848	0.000000	0.017241	0.006098	0.034091	0.05263	2330.83	33	chr12	81268054	.	C	T	2330.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.4;DP=816;ExcessHet=0.119;FS=3.791;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.59;ReadPosRankSum=-0.084;SOR=0.518	GT:AD:DP:GQ:PL	0/1:68,53:121:99:1256,0,1478	17	0	2	0
chr12	85124458	85124458	G	C	exonic	LRRIQ1	.	nonsynonymous SNV	LRRIQ1:NM_001079910:exon17:c.G3946C:p.E1316Q	.	433	1088	1	0	0	1	0.000459348	.	.	.	2690720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.078	0.0190558660063	.	.	8.406e-05	0	0	0	0	0.0002	0	0	6.47e-05	10	154602	rs760879565	6.705e-05	6.704e-05	6.127e-05	7.29e-05	0.0012	5.63e-05	5.173e-05	0.0006	0.0004	0.0001	4.472e-05	3.826e-05	0	0	0.0012	6.385e-05	0.0002	0	6.568e-05	6.562e-05	5.141e-05	8.059e-05	7.352e-05	3.515e-05	2.615e-05	2.847e-05	1.859e-05	2.407e-05	0	0	0	0	0	0.0102	7.352e-05	0.0005	0	0.337	0.12837	T	0.339	0.18071	T	0.493	0.37004	P	0.155	0.34417	B	0.103391	0.19749	N	0.467452	1	0.08975	N	1.75	0.45442	L	0.44	0.56609	T	-1.06	0.27669	N	0.294	0.33250	-1.0286	0.20908	T	0.069	0.28180	T	10	0.13269368	0.25254	T	0.019056	0.41318	T	0.078	0.22779	.	.	0.536100336011	0.53261	0.26128802743784973	0.26041	0.0515022165253	0.05672	0.307593286037	0.11544	T	0.010779	0.09696	T	-0.370668	0.03560	T	-0.544514	0.17857	T	0.04774559289217	0.05097	T	0.636336	0.25008	T	0.05740735	0.11421	0.037575323	0.03441	0.05740735	0.11420	0.037575323	0.03440	-4.601	0.32184	T	.	.	0.184	0.39865	B	.	.	1.682381	0.21443	15.20	0.99179109821026523	0.54614	0.06953	0.12979	N	AEFI	0.043780	0.06962	N	-0.588210448005903	0.19302	1.009119	-0.644139849907204	0.18365	0.9807297	3.3390441503799E-6	0.01202	0.553676	0.25195	0	0.624306	0.53593	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.33	2.5	0.29355	0.901000	0.28075	1.547000	0.27267	0.618000	0.50648	0.404000	0.26202	0.897000	0.27914	0.004000	0.06068	0.2343:0.2048:0.4266:0.1343	1.499	0.02324	874	0.30607	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1153.33	33	chr12	85124458	.	G	C	1153.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.88;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.18;ReadPosRankSum=0.839;SOR=0.801	GT:AD:DP:GQ:PL	0/1:35,41:76:99:1167,0,917	18	0	1	0
chr12	98516081	98516081	G	A	exonic	TMPO	.	nonsynonymous SNV	TMPO:NM_001032283:exon1:c.G214A:p.E72K,TMPO:NM_001032284:exon1:c.G214A:p.E72K,TMPO:NM_001307975:exon1:c.G214A:p.E72K,TMPO:NM_003276:exon1:c.G214A:p.E72K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.147	0.938901082115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.381e-06	2.736e-06	1.373e-06	1.389e-06	1.804e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.804e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.04	0.53172	D	0.168	0.39799	T	0.984	0.77913	D	0.546	0.59984	P	0.000200	0.48115	D	0.182670	0.997646	0.44063	D	2.34	0.67151	M	0.27	0.72994	T	-1.78	0.45222	N	0.375	0.48227	-0.0969	0.80169	T	0.447	0.78252	T	10	0.544495	0.63906	D	0.938901	0.99565	D	0.147	0.38986	0.284	0.24121	0.724144010556	0.72170	0.18358928958345458	0.18277	0.409170170421	0.41733	0.94465482235	0.99612	D	0.037693	0.63310	T	0.0671522	0.60501	T	-0.141317	0.60004	T	0.986519932746887	0.77213	D	0.949105	0.80662	D	0.31393725	0.54124	0.37855816	0.62931	0.31393725	0.54124	0.37855816	0.62930	-5.913	0.51030	T	.	.	0.758	0.83831	P	.;.;.;.;.	.;.;.;.;.	4.857407	0.79449	27.1	0.99761611570148778	0.85091	0.82215	0.41477	D	AEFDBHCIJ	0.645428	0.62133	D	0.353841799328165	0.58943	4.069792	0.32431216480423	0.56972	3.861531	0.999999998410771	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.51	4.51	0.54589	3.410000	0.52417	11.026000	0.85008	0.588000	0.31329	1.000000	0.71638	1.000000	0.68203	0.052000	0.15357	0.0:0.0:1.0:0.0	17.207	0.86802	821	0.40814	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	671.33	34	chr12	98516081	.	G	A	671.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.423;DP=694;ExcessHet=0;FS=2.659;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.99;ReadPosRankSum=2.15;SOR=0.34	GT:AD:DP:GQ:PL	0/1:22,26:48:99:685,0,578	18	0	1	0
chr12	103725080	103725080	G	A	exonic	STAB2	.	nonsynonymous SNV	STAB2:NM_017564:exon45:c.G4789A:p.G1597S	.	8	1512	2	0	0	2	0.000660939	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.646	0.148122671898	0.0002	.	0.0001	9.612e-05	8.64e-05	0	0	0.0002	0	0	0.0001423	22	154602	rs144900279	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0020	0.0017	8.966e-05	0.0001	0	0	0	0.0031	0.0002	0.0003	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	8.166e-05	6.722e-05	7.91e-05	5.995e-05	7.221e-05	0	0.0001	0	0	9.445e-05	0.0068	0.0001	0.0005	0	0.029	0.45756	D	0.015	0.61642	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	0.999671	0.48205	D	3.44	0.92123	M	-2.89	0.91589	D	-3.81	0.71882	D	0.462	0.49874	0.832	0.94808	D	0.871	0.95704	D	10	0.64899546	0.69493	D	0.148123	0.83007	D	0.646	0.86586	.	.	0.867491070438	0.86620	0.8524035949781223	0.85202	0.442035396071	0.44180	0.530718505383	0.43136	T	0.540968	0.84282	D	0.0425163	0.57374	T	0.115444	0.77932	D	0.672265887260437	0.39439	D	0.881012	0.60027	D	0.42914793	0.62697	0.3759177	0.62725	0.42914793	0.62697	0.3759177	0.62725	-8.875	0.66888	D	.	.	0.198	0.41992	B	.	.	3.426504	0.47601	22.5	0.99878246437637841	0.95491	0.98580	0.84326	D	AEFBI	0.866726	0.78625	D	0.672674359218314	0.77842	6.753289	0.605841799262617	0.75364	6.297357	0.999909344462238	0.45458	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.38	5.38	0.77279	6.645000	0.74198	4.533000	0.43733	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.399000	0.26759	0.0:0.0:1.0:0.0	17.894	0.88797	902	0.24074	FAS1 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	0.002535	0.005155	0.001359	0.008824	0.000000	0.000000	0.000000	0.000000	0.02632	844.33	33	chr12	103725080	.	G	A	844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.03;DP=719;ExcessHet=0;FS=0.827;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.05;ReadPosRankSum=-0.425;SOR=0.833	GT:AD:DP:GQ:PL	0/1:48,36:84:99:858,0,1167	18	0	1	0
chr12	103980072	103980072	-	ATTGGCATAAACCCG	exonic	TDG	.	nonframeshift insertion	TDG:NM_003211:exon3:c.408_409insATTGGCATAAACCCG:p.P141_G142insIGINP	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1301665755	1.369e-06	0.0001	2.724e-06	0	2.989e-05	2.3e-07	9e-08	.	.	2.989e-05	0	0	0	0	0	8.996e-07	0	0	0	4.597e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	47.29	41	chr12	103980072	.	T	TATTGGCATAAACCCG	47.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.83;DP=878;ExcessHet=0;FS=18.73;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.17;MQRankSum=-10.19;QD=0.33;ReadPosRankSum=-4.938;SOR=3.29	GT:AD:DP:GQ:PL	0/1:131,12:143:61:61,0,5419	18	0	1	0
chr12	103984920	103984920	-	AGGATGCAAAGAAGATGGCTGTTAA	exonic	TDG	.	frameshift insertion	TDG:NM_001363612:exon7:c.535_536insAGGATGCAAAGAAGATGGCTGTTAA:p.E188Gfs*8,TDG:NM_003211:exon8:c.964_965insAGGATGCAAAGAAGATGGCTGTTAA:p.E331Gfs*8	.	438	888	106	0	90	196	0.0563231	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0003	9.285e-05	0.0002	0.0004	0.0001	0.0001	0.0003	0.0002	0.0004	0.0003	7.88e-05	0.0004	0.0002	0.0002	0.0001	0.0002	0.0001	6.627e-06	7.246e-05	0	1.357e-05	1.481e-05	0	0	.	.	0	0	0	0	0	0	0	1.481e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	2004.32	46	chr12	103984920	.	G	GAGGATGCAAAGAAGATGGCTGTTAA	2004.32	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.31;DP=2233;ExcessHet=5.3738;FS=11.033;InbreedingCoeff=-0.3104;MLEAC=3;MLEAF=0.079;MQ=58.71;MQRankSum=-9.421;QD=1.62;ReadPosRankSum=-4.38;SOR=1.893	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:136,22:158:99:.:.:488,0,5590:.	16	0	3	0
chr12	105122179	105122179	C	G	exonic	WASHC4	.	nonsynonymous SNV	WASHC4:NM_001293640:exon10:c.C727G:p.P243A,WASHC4:NM_015275:exon10:c.C727G:p.P243A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0157672803897	.	.	4.149e-05	0	8.661e-05	0	0	3.002e-05	0	0.0001	3.23e-05	5	154602	rs776626849	1.782e-05	1.779e-05	1.774e-05	1.791e-05	0.0002	1.24e-05	1.054e-05	9.796e-05	7.842e-05	0	0	0	0	0	0.0002	7.209e-06	4.976e-05	0.0002	6.582e-06	6.57e-06	0	1.347e-05	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.526	0.07116	T	0.817	0.03863	T	0.192	0.29441	B	0.043	0.24256	B	0.000001	0.84330	D	0.098714	1	0.81001	D	.	.	.	1.66	0.27486	T	-2.11	0.48020	N	0.593	0.65501	-1.0915	0.05286	T	0.069	0.28147	T	10	0.2600579	0.43450	T	0.015767	0.36685	T	0.143	0.38195	0.353	0.35246	0.568285537894	0.56494	0.3702114291709014	0.36935	0.215138462999	0.24049	0.706216156483	0.68044	T	0.005723	0.22156	T	-0.12291	0.32649	T	-0.177659	0.56738	T	0.19294111430645	0.20016	T	0.932007	0.74652	D	0.10110468	0.23879	0.19841634	0.43673	0.10110468	0.23879	0.19841634	0.43672	-3.152	0.11903	T	0.17145677444465504	0.21613	0.176	0.41828	B	.;.	.;.	2.989097	0.39896	21.1	0.94030710126409189	0.24144	0.98868	0.87925	D	AEFBI	0.846468	0.76334	D	0.146843581499717	0.48663	3.075797	0.338166129143861	0.57799	3.946986	0.999999999998941	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.72	5.72	0.89380	7.603000	0.82048	7.666000	0.64515	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	19.940	0.97160	856	0.34373	WASH complex subunit 7, N-terminal;WASH complex subunit 7, 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	.	.	.	.	.	.	.	.	0.05263	1225.83	34	chr12	105122179	.	C	G	1225.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.963;DP=678;ExcessHet=0.119;FS=1.796;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.93;ReadPosRankSum=-0.931;SOR=0.928	GT:AD:DP:GQ:PL	0/1:21,21:42:99:456,0,443	17	0	2	0
chr12	108807666	108807666	G	A	exonic	SSH1	.	nonsynonymous SNV	SSH1:NM_001161331:exon7:c.C731T:p.T244M,SSH1:NM_001161330:exon8:c.C698T:p.T233M,SSH1:NM_018984:exon8:c.C698T:p.T233M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00973362549824	.	.	3.305e-05	0	0	0	0	3.006e-05	0	0.0001	3.23e-05	5	154602	rs774153220	1.232e-05	1.231e-05	9.531e-06	1.514e-05	8.962e-05	7.7e-06	6.35e-06	2.995e-05	2.038e-05	8.962e-05	0	0	2.521e-05	0	0	6.298e-06	1.657e-05	6.957e-05	6.594e-06	6.57e-06	0	1.351e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	0.031	0.45039	D	0.1	0.38742	T	0.986	0.73220	D	0.749	0.68658	P	0.000087	0.51296	D	0.203828	0.61892	0.81001	D	2.08	0.57402	M	1.27	0.36146	T	-2.56	0.55983	D	0.392	0.45615	-0.9251	0.44844	T	0.181	0.52843	T	10	0.30910945	0.48401	T	0.009734	0.25404	T	0.114	0.32008	0.269	0.21735	0.339940258815	0.33601	0.5282154174277344	0.52745	0.284214640594	0.30848	0.587517797947	0.51144	T	0.091626	0.38835	T	-0.273435	0.11377	T	-0.393879	0.34097	T	0.512461245059967	0.33088	D	0.915508	0.69822	D	0.10963873	0.25921	0.11936199	0.28810	0.10963873	0.25920	0.11936199	0.28810	-6.812	0.61336	T	.	.	0.074	0.05579	B	.;.;.	.;.;.	4.688242	0.75090	26.3	0.97555303612245292	0.34593	0.89671	0.50286	D	AEFDGBCI	0.514144	0.54164	D	0.487561409814262	0.66361	4.940388	0.473428577047099	0.66234	4.925694	0.999999992284099	0.74766	0.67177	0.52595	0	0.577304	0.33150	0	0.65145	0.50148	0	0.711	0.71501	0	.	.	5.35	5.35	0.76297	5.344000	0.65751	11.757000	0.95541	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.411000	0.27028	0.0:0.0:1.0:0.0	18.051	0.89272	872	0.31118	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	796.33	33	chr12	108807666	.	G	A	796.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.07;DP=725;ExcessHet=0;FS=0.838;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.47;ReadPosRankSum=-0.063;SOR=0.556	GT:AD:DP:GQ:PL	0/1:61,33:94:99:810,0,1437	18	0	1	0
chr12	109139509	109139509	G	A	exonic	ACACB	.	nonsynonymous SNV	ACACB:NM_001093:exon2:c.G104A:p.S35N	.	.	.	.	.	.	.	.	.	.	.	2375484	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.028	0.00689612359186	.	.	8.237e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs750878973	1.437e-05	1.437e-05	1.633e-05	1.238e-05	0.0002	9.23e-06	7.84e-06	1.174e-05	9.55e-06	0	0	0	0	0	0.0002	1.799e-05	0	0	6.573e-06	6.567e-06	0	1.346e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.125	0.27310	T	0.0	0.92824	D	0.0	0.02946	B	0.001	0.04355	B	0.455966	0.12449	N	0.739768	1	0.08975	N	1.955	0.52871	M	0.76	0.49919	T	-0.62	0.61284	N	0.077	0.05162	-0.9986	0.30311	T	0.107	0.38906	T	10	0.09435046	0.16769	T	0.006896	0.18233	T	0.028	0.06331	.	.	0.271763555656	0.26798	0.04155179673027719	0.04100	0.221885408441	0.24726	0.328330993652	0.14681	T	0.341097	0.71004	T	-0.296348	0.09008	T	-0.66346	0.08035	T	0.0634503471908699	0.07700	T	0.39666	0.09990	T	0.040642202	0.05840	0.06564378	0.13335	0.040642202	0.05840	0.06564378	0.13335	-5.483	0.41709	T	.	.	0.060	0.13783	B	.;.;.	.;.;.	0.176598	0.05646	2.098	0.93662804358390217	0.23554	0.04264	0.09797	N	AEFBI	0.061167	0.11675	N	-0.779256794451868	0.13852	0.6854274	-0.80250566741432	0.14436	0.7542069	3.01942643106712E-4	0.06454	0.516011	0.20929	0	0.610034	0.51514	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.63	2.84	0.32241	0.052000	0.14046	1.037000	0.23526	0.676000	0.76740	0.000000	0.06391	0.252000	0.23925	0.011000	0.09372	0.2604:0.0:0.7396:0.0	7.702	0.27795	638	0.64280	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1406.33	35	chr12	109139509	.	G	A	1406.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.404;DP=750;ExcessHet=0;FS=3.29;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.62;ReadPosRankSum=0.68;SOR=0.652	GT:AD:DP:GQ:PL	0/1:64,57:121:99:1420,0,1587	18	0	1	0
chr12	110346405	110346405	A	G	exonic	ATP2A2	.	nonsynonymous SNV	ATP2A2:NM_170665:exon20:c.A3064G:p.I1022V	Acrokeratosis verruciformis, Autosomal dominant;Darier disease, Autosomal dominant	0	1503	19	0	0	19	0.00628099	.	.	.	1196093	ATP2A2-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.057	0.0522981064482	0.0006	0.00119808	0.0010	0	0.0009	0	0	0.0007	0.0033	0.0034	0.0008085	125	154602	rs140234740	0.0005	0.0005	0.0005	0.0006	0.0029	0.0005	0.0005	0.0024	0.0023	0	0.0007	0	0	1.872e-05	0.0029	0.0004	0.0008	0.0027	0.0005	0.0005	0.0004	0.0005	0.0037	0.0004	0.0003	0.0024	0.0020	4.81e-05	0	0.0003	0	0	9.413e-05	0	0.0006	0.0009	0.0037	0.619	0.05325	T	1.0	0.01155	T	0.001	0.07471	B	0.001	0.04355	B	0.003923	0.34318	N	0.351393	1	0.81001	D	0.695	0.17993	N	-3.38	0.94161	D	-0.08	0.08187	N	0.073	0.04668	-0.4858	0.69158	T	0.560	0.83956	D	9	0.0050418377	0.00109	T	0.052298	0.65013	D	0.257	0.56827	.	.	0.666493358032	0.66368	0.4309511518547669	0.43012	0.389368794045	0.40179	0.318109154701	0.13134	T	0.256222	0.62711	T	-0.35386	0.04490	T	-0.283493	0.46446	T	0.0298743736483675	0.01970	T	0.792121	0.43364	T	0.07554232	0.17026	0.041280497	0.04657	0.09638595	0.22701	0.035535995	0.02823	-3.132	0.11668	T	.	.	0.060	0.00964	B	.	.	1.718582	0.21882	15.39	0.89262801978036976	0.18648	0.86448	0.45730	D	AEFBCI	0.390889	0.46954	N	-0.371737250377401	0.26480	1.445551	-0.154932614662954	0.33219	1.897941	0.999910516201505	0.45857	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	3.75	0.42236	2.599000	0.45895	3.210000	0.36796	0.756000	0.94297	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.8458:0.0:0.1542:0.0	9.163	0.36198	235	0.90838	.	.	.	.	.	.	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	0.002518	0.000000	0.000000	0.000000	0.000000	0.008621	0.012195	0.000000	0.02632	1227.33	44	chr12	110346405	.	A	G	1227.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.126;DP=733;ExcessHet=0;FS=2.103;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.54;ReadPosRankSum=-0.197;SOR=1.047	GT:AD:DP:GQ:PL	0/1:35,44:79:99:1241,0,928	18	0	1	0
chr12	118073777	118073777	G	C	exonic	VSIG10	.	nonsynonymous SNV	VSIG10:NM_019086:exon5:c.C1141G:p.L381V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.00361070208814	.	.	8.283e-06	0	0	0	0	0	0	6.058e-05	6.5e-06	1	154602	rs756872016	1.368e-06	1.368e-06	1.361e-06	1.375e-06	2.519e-05	2.3e-07	9e-08	.	.	0	0	0	2.519e-05	0	0	0	0	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.13306	T	0.498	0.11263	T	0.002	0.09854	B	0.007	0.12992	B	0.213635	0.16305	N	0.454568	0.998641	0.22015	N	1.055	0.26876	L	0.62	0.53302	T	-0.31	0.12099	N	0.072	0.04547	-1.0467	0.15332	T	0.081	0.31884	T	10	0.07446632	0.11387	T	0.003611	0.08278	T	0.046	0.12618	0.315	0.29096	0.0666544352282	0.05500	0.32334680865778326	0.32247	0.204509772023	0.22873	0.274507880211	0.06738	T	6.21E-4	0.00264	T	-0.296428	0.09001	T	-0.56672	0.15750	T	0.0259780104226031	0.01403	T	0.553945	0.19167	T	0.032027975	0.03150	0.03419619	0.02445	0.032027975	0.03150	0.03419619	0.02445	-6.94	0.53595	T	.	.	0.073	0.04640	B	.	.	1.859259	0.23619	16.09	0.26505483902103422	0.01273	0.11221	0.16489	N	AEFDBI	0.047870	0.08110	N	-0.477263950414019	0.22828	1.221632	-0.337112784109734	0.26910	1.489671	0.00455251154871086	0.10614	0.706548	0.73137	0	0.593476	0.48661	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.65	3.77	0.42499	0.400000	0.20657	5.124000	0.47608	0.675000	0.71128	0.007000	0.17678	1.000000	0.68203	0.987000	0.62547	0.0:0.4896:0.3182:0.1922	9.506	0.38213	962	0.08456	Immunoglobulin-like domain|Immunoglobulin V-set domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	781.33	36	chr12	118073777	.	G	C	781.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.521;DP=701;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.905;SOR=0.606	GT:AD:DP:GQ:PL	0/1:36,34:70:99:795,0,932	18	0	1	0
chr12	123916480	123916480	C	A	exonic	DNAH10	.	nonsynonymous SNV	DNAH10:NM_207437:exon62:c.C10392A:p.D3464E,DNAH10:NM_001372106:exon63:c.C10746A:p.D3582E	.	428	1031	62	1	0	64	0.0301035	.	.	.	3512179	DNAH10-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.237	.	0.0067	0.0109824	0.0116	0.0015	0.0033	0.0002	0.0015	0.0083	0.0157	0.0471	0.0105367	1629	154602	rs61745785	0.0097	0.0097	0.0083	0.0112	0.0478	0.0096	0.0095	0.0465	0.0460	0.0015	0.0038	0.0057	0.0001	0.0011	0.0297	0.0080	0.0098	0.0478	0.0062	0.0062	0.0057	0.0067	0.0459	0.0059	0.0058	0.0410	0.0390	0.0013	0.0066	0.0037	0.0058	0.0004	0.0016	0.0205	0.0081	0.0080	0.0459	.	.	.	.	.	.	0.998	0.73220	D	0.951	0.68939	D	0.000000	0.84330	D	0.000000	0.999047	0.45943	D	2.575	0.75298	M	.	.	.	.	.	.	.	.	-0.9593	0.39311	T	0.090	0.34518	T	10	0.008819342	0.00200	T	.	.	.	0.237	0.54074	0.399	0.42753	.	.	0.5668023242090957	0.56608	0.491414588271	0.47834	0.651649415493	0.60219	T	0.027816	0.20287	T	-0.415797	0.01820	T	-0.335732	0.40826	T	0.0198974521952076	0.00690	T	0.944506	0.78979	D	0.43194187	0.62879	0.34993237	0.60610	0.43194187	0.62880	0.34993237	0.60610	-9.784	0.72607	D	.	.	0.283	0.51592	B	.;.	.;.	4.087550	0.60855	24.3	0.99672905042637427	0.78717	0.91670	0.54014	D	AEFBI	0.654762	0.62733	D	0.611963586448856	0.73930	6.047201	0.514895579047583	0.68990	5.297094	0.0179896438730856	0.13010	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.530356	0.10902	0	.	.	4.74	3.72	0.41857	2.989000	0.49082	4.760000	0.44710	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.735000	0.35267	0.0:0.5625:0.0:0.4375	3.143	0.06073	730	0.54327	Dynein heavy chain, ATP-binding dynein motor region D5;Dynein heavy chain, ATP-binding dynein motor region D5	.	.	.	.	.	Likely benign	0	0	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	0.017120	0.005051	0.013587	0.005848	0.050000	0.008621	0.021341	0.034091	0.05263	2708.83	36	chr12	123916480	.	C	A	2708.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.592;DP=823;ExcessHet=0.119;FS=2.359;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.72;ReadPosRankSum=0.838;SOR=0.889	GT:AD:DP:GQ:PL	0/1:44,65:109:99:1573,0,928	17	0	2	0
chr12	128914983	128914983	C	T	exonic	GLT1D1	.	nonsynonymous SNV	GLT1D1:NM_001366887:exon5:c.C337T:p.R113C,GLT1D1:NM_001366886:exon6:c.C463T:p.R155C,GLT1D1:NM_001366889:exon7:c.C511T:p.R171C	.	434	1081	6	1	0	8	0.00368664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0588680807464	.	0.00159744	0.0038	0.0018	0	0	0	0.0036	0	0.0043	0.0008861	137	154602	rs79317403	0.0036	0.0034	0.0035	0.0036	0.0040	0.0035	0.0035	0.0039	0.0039	0.0004	0.0011	0.0010	5.599e-05	0.0018	0.0019	0.0040	0.0032	0.0037	0.0024	0.0024	0.0023	0.0025	0.0037	0.0022	0.0021	0.0034	0.0032	0.0005	0	0.0020	0.0017	0.0002	0.0031	0	0.0037	0.0028	0.0029	0.055	0.40832	T	0.131	0.36630	T	0.042	0.21471	B	0.004	0.10090	B	.	.	.	.	1	0.08975	N	1.95	0.52479	M	-1.29	0.79475	T	-1.88	0.45949	N	0.151	0.18239	-0.7969	0.55327	T	0.280	0.65159	T	8	0.0048719943	0.00104	T	0.058868	0.67466	D	0.123	0.34020	.	.	0.132336055621	0.12781	.	.	.	.	.	.	.	0.023808	0.18107	T	-0.452971	0.01085	T	-0.419712	0.31107	T	0.00372698561778221	0.00039	T	0.743426	0.36288	T	0.068533234	0.14937	0.048810787	0.07329	0.068533234	0.14937	0.048810787	0.07328	-5.176	0.38697	T	.	.	0.071	0.09094	B	.;.	.;.	1.168331	0.15580	11.95	0.91454915598856867	0.20725	0.14231	0.18293	N	AEFDGBHCI	0.072715	0.14521	N	-1.00069423350754	0.08589	0.4033189	-1.05438465293318	0.08616	0.4244913	0.999688917972607	0.41756	0.487112	0.14033	0	0.68618	0.66647	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.05	0.621	0.16817	0.016000	0.13272	-1.896000	0.04535	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2226:0.4663:0.0:0.311	3.357	0.06754	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	.	.	.	.	.	.	.	.	0.02632	1346.33	37	chr12	128914983	.	C	T	1346.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.608;DP=768;ExcessHet=0;FS=0.638;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.2;ReadPosRankSum=0.781;SOR=0.758	GT:AD:DP:GQ:PL	0/1:67,65:132:99:1360,0,1446	18	0	1	0
chr13	19751378	19751378	T	C	exonic	PSPC1	.	nonsynonymous SNV	PSPC1:NM_001354908:exon4:c.A860G:p.K287R,PSPC1:NM_001354909:exon4:c.A860G:p.K287R,PSPC1:NM_001363660:exon4:c.A860G:p.K287R,PSPC1:NM_001042414:exon5:c.A860G:p.K287R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	0.00944355419823	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.857e-06	6.841e-06	4.143e-06	5.578e-06	1.216e-05	2.02e-06	1.3e-06	1.95e-06	1.28e-06	0	0	0	0	0	0	5.431e-06	0	1.216e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.062	0.36912	T	0.218	0.26066	T	0.106	0.26037	B	0.049	0.25116	B	0.000000	0.84330	D	0.000000	0.999997	0.58761	D	2.035	0.55589	M	2.08	0.20255	T	-2.03	0.46673	N	0.175	0.31478	-1.1105	0.03027	T	0.054	0.22808	T	10	0.13762301	0.26179	T	0.009444	0.24739	T	0.105	0.29889	0.33	0.31519	0.223474106383	0.21959	0.44563922704505576	0.44481	0.855388780065	0.68728	0.786740779877	0.79946	T	0.091746	0.38860	T	-0.185379	0.22939	T	-0.50406	0.21926	T	0.640917122364044	0.38076	D	0.927007	0.73102	D	0.48643845	0.66290	0.39524958	0.64197	0.48643845	0.66290	0.39524958	0.64197	-7.799	0.59692	D	.	.	0.109	0.20819	B	.;.	.;.	4.145155	0.62139	24.4	0.99827420761190333	0.90939	0.92748	0.56449	D	AEFGBI	0.462400	0.51176	N	0.00668313770960222	0.42159	2.534945	0.146047658156862	0.46932	2.931338	0.915974049894729	0.26499	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.83	4.83	0.61880	4.209000	0.58291	7.808000	0.69345	0.652000	0.53365	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	14.705	0.68796	934	0.15400	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2863.83	114	chr13	19751378	.	T	C	2863.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.935;DP=812;ExcessHet=0.119;FS=1.677;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.93;MQRankSum=0.555;QD=13.57;ReadPosRankSum=1.51;SOR=0.74	GT:AD:DP:GQ:PL	0/1:50,49:99:99:1212,0,1268	17	0	2	0
chr13	24793169	24793169	A	G	exonic	RNF17	.	nonsynonymous SNV	RNF17:NM_001184993:exon10:c.A1063G:p.S355G,RNF17:NM_031277:exon10:c.A1063G:p.S355G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.00475573486087	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.289	0.15047	T	0.096	0.42614	T	0.0	0.02946	B	0.0	0.01387	B	0.587738	0.11080	N	0.820704	1	0.08975	N	0.55	0.14455	N	3.49	0.05071	T	-1.04	0.27259	N	0.06	0.03175	-1.0067	0.27943	T	0.021	0.08639	T	10	0.058121502	0.06784	T	0.004756	0.11847	T	0.028	0.06331	0.305	0.27485	0.043077524339	0.03247	0.109214135812641	0.10850	0.198902131425	0.22280	0.261753022671	0.05101	T	0.060749	0.31471	T	-0.348751	0.04806	T	-0.738733	0.03944	T	0.0759305506944656	0.09459	T	0.386661	0.09517	T	0.05385375	0.10251	0.03612034	0.02995	0.05385375	0.10250	0.03612034	0.02994	-5.013	0.36981	T	.	.	0.063	0.02257	B	.;.	.;.	0.378708	0.07505	4.152	0.96536557451111993	0.30172	0.05796	0.11732	N	AEFBI	0.057450	0.10701	N	-0.89981070051671	0.10846	0.5203884	-0.858590047835262	0.13081	0.6766429	4.1915574008284E-5	0.03989	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.27	2.91	0.32903	0.759000	0.26127	0.756000	0.21276	0.756000	0.94297	0.003000	0.16062	0.000000	0.08366	0.030000	0.13115	0.7612:0.0:0.2388:0.0	5.206	0.14614	927	0.17636	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1881.33	39	chr13	24793169	.	A	G	1881.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.443;DP=855;ExcessHet=0;FS=1.964;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.47;ReadPosRankSum=0.064;SOR=0.89	GT:AD:DP:GQ:PL	0/1:80,84:164:99:1895,0,1992	18	0	1	0
chr13	25097003	25097003	A	T	exonic	PABPC3	.	stopgain	PABPC3:NM_030979:exon1:c.A805T:p.K269X	.	424	1083	15	0	0	15	0.00687758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1277822604	0.0002	0.0050	0.0002	0.0002	0.0041	0.0002	0.0001	0.0035	0.0033	0	0.0016	7.768e-05	0.0041	0	0	4.503e-06	3.344e-05	0.0004	0.0041	0.0091	0.0035	0.0048	0.0657	0.0039	0.0038	0.0596	0.0572	0.0004	0	0.0089	0.0070	0.0657	0.0011	0.0034	0.0010	0.0058	0.0126	.	.	.	.	.	.	.	.	.	.	.	.	0.000139	0.49741	U	0.000000	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.085	0.06190	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493707	0.94111	D	0.471	0.94033	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	6.140945	0.94653	34	0.9935812595185205	0.60904	0.74223	0.36307	D	AEFDGBCI	0.049555	0.08574	N	0.46821757552781	0.65244	4.798183	0.20675132937927	0.50222	3.216508	0.268396305870421	0.18866	0.706298	0.61202	0	0.693144	0.66847	0	0.709663	0.75317	0	0.530356	0.10902	0	.	.	0.875	0.875	0.18266	6.513000	0.73652	9.425000	0.80773	0.393000	0.20503	1.000000	0.71638	1.000000	0.68203	0.770000	0.36519	1.0:0.0:0.0:0.0	5.899	0.18200	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	.	.	.	.	.	.	.	.	0.1579	3058.4	221	chr13	25097003	.	A	T	3058.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.405;DP=3659;ExcessHet=2.0135;FS=2.941;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=59.24;MQRankSum=-3.073;QD=2.12;ReadPosRankSum=-1.584;SOR=1.063	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:182,28:210:99:0|1:25097003_A_T:611,0,7558:25097003	13	0	6	0
chr13	25097017	25097020	GACG	-	exonic	PABPC3	.	frameshift deletion	PABPC3:NM_030979:exon1:c.819_822del:p.T274Nfs*9	.	426	825	261	1	9	272	0.13748	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0028	0.0002	0.0002	0.0040	0.0002	0.0002	0.0035	0.0033	0	0.0021	7.771e-05	0.0040	0	0.0002	4.518e-06	8.357e-05	0.0005	0.0038	0.0053	0.0031	0.0045	0.0558	0.0035	0.0034	0.0505	0.0484	0.0002	0	0.0081	0.0058	0.0558	0.0010	0	0.0010	0.0052	0.0111	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	19368.9	262	chr13	25097016	.	AGACG	A	19368.9	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.12;DP=4461;ExcessHet=25.4433;FS=7.09;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.31;MQRankSum=-9.731;QD=4.48;ReadPosRankSum=-0.48;SOR=1.344	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:200,28:228:99:0|1:25097003_A_T:574,0,8314:25097003	15	0	4	0
chr13	25097030	25097030	C	0	exonic	PABPC3	.	.	.	.	432	843	240	1	6	248	0.125519	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1053	15963.1	259	chr13	25097030	.	C	*	15963.1	.	AC=4;AF=0.105;AN=38;BaseQRankSum=1.76;DP=4427;ExcessHet=25.4433;FS=7.047;InbreedingCoeff=-0.7273;MLEAC=4;MLEAF=0.105;MQ=59.21;MQRankSum=-10.43;QD=3.73;ReadPosRankSum=-0.576;SOR=1.327	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:209,30:239:99:0|1:25097003_A_T:629,0,8655:25097003	15	0	4	0
chr13	28322931	28322931	T	C	exonic	FLT1	.	nonsynonymous SNV	FLT1:NM_002019:exon21:c.A2812G:p.M938V	.	430	1077	14	1	0	16	0.00737327	.	.	.	702653	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.071	.	0.0028	0.00359425	0.0032	0.0009	0.0010	0	0.0002	0.0032	0.0033	0.0093	0.0030465	471	154602	rs35549791	0.0026	0.0026	0.0023	0.0029	0.0087	0.0026	0.0025	0.0082	0.0080	0.0005	0.0016	0.0005	0	0.0002	0.0069	0.0025	0.0027	0.0087	0.0024	0.0024	0.0024	0.0024	0.0094	0.0022	0.0021	0.0072	0.0064	0.0007	0.0011	0.0043	0.0009	0.0002	0	0.0034	0.0030	0.0038	0.0094	0.554	0.06502	T	0.508	0.10893	T	0.0	0.02946	B	0.002	0.06944	B	0.948503	0.07640	N	1.021770	1	0.08975	N	0.615	0.15706	N	-0.8	0.73845	T	0.07	0.06138	N	0.111	0.09772	-0.9777	0.35526	T	0.140	0.45866	T	10	0.0031074882	0.00052	T	.	.	.	0.071	0.20720	.	.	0.228066490088	0.22430	0.3764998894323643	0.37563	0.286092782875	0.31015	0.251135587692	0.03888	T	0.331921	0.70194	T	-0.581191	0.00189	T	-0.601644	0.12674	T	0.00402470849751331	0.00043	T	0.278972	0.07508	T	0.01784996	0.00309	0.035179887	0.02721	0.01784996	0.00309	0.035179887	0.02721	-3.524	0.16769	T	.	.	0.053	0.00248	B	.;.	.;.	-1.978851	0.00106	0.002	0.32694068452336811	0.01908	0.01224	0.04337	N	AEFGBCI	0.063911	0.12380	N	-1.76704238412251	0.00631	0.02720725	-1.82360273110645	0.00686	0.03055535	0.99999999998648	0.74766	0.730579	0.87903	0	0.315538	0.05683	2	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.75	-9.27	0.00560	-2.987000	0.00723	-6.572000	0.01362	-1.475000	0.01066	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.089:0.5638:0.2136:0.1337	8.255	0.30908	922	0.19044	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	.	.	.	.	.	Likely benign	0	0	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	0.004028	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.011364	0.02632	242.33	23	chr13	28322931	.	T	C	242.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.778;DP=594;ExcessHet=0;FS=1.402;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.13;ReadPosRankSum=-0.487;SOR=0.412	GT:AD:DP:GQ:PL	0/1:22,12:34:99:256,0,607	18	0	1	0
chr13	38859428	38859428	G	C	exonic	FREM2	.	nonsynonymous SNV	FREM2:NM_207361:exon14:c.G7357C:p.V2453L	Fraser syndrome, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0142809241756	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.426e-06	0.0001	5.454e-06	1.377e-06	4.505e-06	1e-06	7.3e-07	1.32e-06	9.6e-07	0	0	0	0	0	0	4.505e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.58626	D	0.016	0.60972	D	.	.	.	.	.	.	0.000203	0.47681	N	0.139815	0.999998	0.58761	D	.	.	.	1.88	0.23884	T	-1.95	0.45222	N	0.416	0.45615	-0.9811	0.34748	T	0.091	0.34847	T	10	0.29562914	0.47131	T	0.014281	0.34290	T	0.156	0.40720	0.299	0.26522	0.426670027402	0.42282	0.510707213402808	0.50992	0.115962092506	0.13078	0.591294765472	0.51677	T	.	.	.	-0.139472	0.29976	T	-0.438119	0.29019	T	0.881288886070251	0.53134	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.362	0.57361	A	.	.	2.487454	0.32091	18.94	0.98227814918200052	0.39360	0.97595	0.75784	D	AEFBI	0.688535	0.64950	D	0.180157683667661	0.50246	3.21658	0.185006421886382	0.49024	3.110789	0.791277744604143	0.24019	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.564101	0.26826	0	.	.	5.86	4.14	0.47821	5.015000	0.63798	5.657000	0.49204	-0.816000	0.03012	1.000000	0.71638	1.000000	0.68203	0.976000	0.56436	0.063:0.1148:0.7031:0.1191	8.428	0.31901	934	0.15400	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3333	1334.06	229	chr13	38859428	.	G	C	1334.06	.	AC=12;AF=0.333;AN=36;BaseQRankSum=-3.406;DP=2557;ExcessHet=11.1788;FS=276.801;InbreedingCoeff=-0.4865;MLEAC=12;MLEAF=0.333;MQ=60;MQRankSum=0;QD=0.79;ReadPosRankSum=1.46;SOR=13.172	GT:AD:DP:GQ:PL	0/1:110,57:171:99:195,0,2185	6	0	12	1
chr13	42303097	42303097	G	C	exonic	AKAP11	.	nonsynonymous SNV	AKAP11:NM_016248:exon8:c.G4351C:p.V1451L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00348779331928	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0.0058	0.0001	0.0001	0.0004	0.0001	0.0001	0.0001	0.0001	0.0001	2.239e-05	0.0002	0.0001	0	0.0004	0.0002	0.0001	5.842e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.732	0.03787	T	0.652	0.06690	T	0.0	0.02946	B	0.0	0.01387	B	0.384222	0.04439	N	1.329080	1	0.08975	N	-0.695	0.01866	N	1.03	0.40469	T	0.12	0.05604	N	0.01	0.00095	-1.0487	0.14761	T	0.025	0.10553	T	10	0.03053692	0.01181	T	0.003488	0.07908	T	0.040	0.10527	0.282	0.23801	0.174091166621	0.17034	0.08873411500846382	0.08806	0.0437477432083	0.04714	0.247362196445	0.03495	T	0.00156	0.01004	T	-0.357409	0.04279	T	-0.75117	0.03440	T	0.0190869918422606	0.00616	T	0.254375	0.03921	T	0.018132178	0.00335	0.025108913	0.00546	0.018132178	0.00334	0.025108913	0.00545	-2.626	0.06703	T	.	.	0.106	0.19839	B	.	.	-0.851205	0.01010	0.042	0.27875280092314592	0.01405	0.12762	0.17464	N	AEFBCI	0.031390	0.03350	N	-1.67084211627419	0.00950	0.04116467	-1.65714055191059	0.01339	0.06045885	0.999931029354219	0.46732	0.706548	0.73137	0	0.702456	0.74545	0	0.65145	0.50148	0	0.714379	0.83352	0	.	.	5.98	-6.75	0.01575	0.231000	0.17651	-0.238000	0.10617	-0.111000	0.15049	0.000000	0.06391	0.000000	0.08366	0.011000	0.09372	0.2747:0.1624:0.2842:0.2787	0.459	0.00478	675	0.60470	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.4167	5180.53	132	chr13	42303097	.	G	C	5180.53	.	AC=15;AF=0.417;AN=36;BaseQRankSum=-4.864;DP=2672;ExcessHet=20.8569;FS=361.789;InbreedingCoeff=-0.6834;MLEAC=15;MLEAF=0.417;MQ=60;MQRankSum=0;QD=2.47;ReadPosRankSum=0.708;SOR=13.056	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:90,56:146:99:.:.:396,0,2056:.	3	0	15	1
chr13	42917545	42917545	T	G	exonic	EPSTI1	.	nonsynonymous SNV	EPSTI1:NM_001331228:exon7:c.A356C:p.Q119P,EPSTI1:NM_033255:exon8:c.A737C:p.Q246P,EPSTI1:NM_001002264:exon9:c.A770C:p.Q257P,EPSTI1:NM_001330543:exon9:c.A770C:p.Q257P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.00893263065901	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1184115838	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.031	0.54934	D	0.965	0.56013	D	0.663	0.52893	P	0.642864	0.10583	N	0.831722	0.999943	0.19238	N	2.14	0.59869	M	1.95	0.22474	T	-2.87	0.61129	D	0.614	0.63459	-1.0445	0.15971	T	0.072	0.29291	T	10	0.3082819	0.48325	T	0.008933	0.23535	T	0.116	0.32463	0.22	0.14224	0.290962096972	0.28708	0.295559408752203	0.29468	0.520747388176	0.49866	0.260202109814	0.04914	T	0.046555	0.27458	T	-0.0881745	0.38378	T	-0.364433	0.37539	T	0.612977738312738	0.36920	D	0.720728	0.34152	T	0.31904098	0.54559	0.3672125	0.62035	0.31904098	0.54559	0.3672125	0.62035	-8.616	0.66531	D	.	.	0.426	0.60988	A	.;.;.	.;.;.	1.876585	0.23837	16.17	0.98231536146831466	0.39396	0.18400	0.20245	N	AEFI	0.384958	0.46588	N	-0.469811308401626	0.23074	1.236536	-0.666949864066207	0.17789	0.9474701	0.0979708819114805	0.16293	0.732398	0.92422	0	0.743671	0.97443	0	0.618467	0.43123	0	0.836244	0.99985	0	.	.	4.23	0.463	0.15912	0.155000	0.16180	-0.977000	0.06726	-0.123000	0.13640	0.009000	0.18154	0.001000	0.17328	0.264000	0.23619	0.0:0.4004:0.0:0.5996	7.115	0.24588	497	0.76227	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	37	chr13	42917545	.	T	G	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.029;DP=768;ExcessHet=0;FS=1.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.3;ReadPosRankSum=-0.743;SOR=0.5	GT:AD:DP:GQ:PL	0/1:38,51:89:99:1286,0,880	18	0	1	0
chr13	44965897	44965897	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G774C:p.K258N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1786	161.85	13	chr13	44965897	.	C	G	161.85	.	AC=5;AF=0.179;AN=28;BaseQRankSum=-1.093;DP=380;ExcessHet=1.3;FS=147.874;InbreedingCoeff=-0.2464;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.21;ReadPosRankSum=1.4;SOR=6.665	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:29,7:36:17:0|1:44965897_C_G:17,0,833:44965897	9	0	5	5
chr13	44965903	44965903	C	G	exonic	NUFIP1	.	nonsynonymous SNV	NUFIP1:NM_012345:exon6:c.G768C:p.K256N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.493	0.079468754605	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.256e-06	0.0002	6.919e-06	5.588e-06	2.57e-05	2.94e-06	2.13e-06	2.65e-06	1.71e-06	0	0	0	2.57e-05	0	0	6.375e-06	1.681e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.61437	D	0.008	0.67890	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.048141	0.998998	0.45836	D	3.485	0.92608	M	-0.0	0.62608	T	-4.03	0.74348	D	0.621	0.63628	-0.1080	0.79915	T	0.451	0.78515	T	10	0.7805929	0.77821	D	0.079469	0.73241	D	0.493	0.77910	0.534	0.64293	0.937841110162	0.93719	0.8097941414879597	0.80934	0.341759167531	0.36122	0.73443365097	0.72155	T	0.476975	0.80740	T	0.0379889	0.56782	T	-0.183208	0.56225	T	0.998566806316376	0.94507	D	0.845915	0.52533	T	0.5997311	0.72677	0.4414634	0.67429	0.5997311	0.72678	0.4414634	0.67430	-7.628	0.58506	D	.	.	0.979	0.91004	P	.	.	4.075358	0.60581	24.2	0.99859704594771792	0.93820	0.75947	0.37213	D	AEFGBI	0.127683	0.24514	N	0.589014654832026	0.72490	5.813697	0.489100109564107	0.67266	5.061066	0.995600798420479	0.34219	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	4.89	4.01	0.45821	1.083000	0.30427	1.768000	0.28610	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.8802:0.0:0.1198	7.968	0.29270	832	0.38914	Nuclear fragile X mental retardation-interacting protein 1, conserved 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	.	.	.	.	.	.	.	.	0.1154	145.49	13	chr13	44965903	.	C	G	145.49	.	AC=3;AF=0.115;AN=26;BaseQRankSum=-0.974;DP=309;ExcessHet=0.3672;FS=90.35;InbreedingCoeff=-0.2387;MLEAC=4;MLEAF=0.154;MQ=60;MQRankSum=0;QD=1.65;ReadPosRankSum=0.793;SOR=5.781	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:28,7:35:20:0|1:44965897_C_G:20,0,793:44965897	10	0	3	6
chr13	46082502	46082502	T	C	exonic	CPB2	.	nonsynonymous SNV	CPB2:NM_001278541:exon4:c.A323G:p.N108S,CPB2:NM_001872:exon4:c.A323G:p.N108S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.160	0.0127547941444	.	0.000199681	8.238e-06	0	0	0	0	0	0.0011	0	1.29e-05	2	154602	rs201278346	1.368e-06	1.368e-06	1.362e-06	1.375e-06	0.0002	2.3e-07	9e-08	.	.	0	0	0	0	0	0.0002	8.994e-07	0	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	0.0002	0	0	1.47e-05	0	0	0.832	0.07473	T	0.589	0.08870	T	0.966	0.56202	D	0.14	0.33554	B	0.000000	0.84330	D	0.087436	0.987354	0.40577	D	2.16	0.60381	M	1.6	0.28604	T	-1.68	0.45222	N	0.476	0.51940	-1.0578	0.12311	T	0.089	0.34188	T	10	0.20324573	0.36473	T	0.012755	0.31594	T	0.160	0.41473	.	.	0.402899589544	0.39908	0.5435022571964878	0.54276	0.551534003631	0.51990	0.390689313412	0.23767	T	0.23524	0.60245	T	-0.244088	0.14831	T	-0.588392	0.13805	T	0.336030331429386	0.26466	T	0.770023	0.39993	T	0.48015812	0.65910	0.29679233	0.55713	0.48015812	0.65910	0.29679233	0.55712	-4.005	0.23878	T	.	.	0.082	0.08657	B	.;.;.	.;.;.	2.276663	0.29103	18.02	0.91363603991018638	0.20628	0.90407	0.51558	D	AEFDGBI	0.788159	0.71773	D	0.0442522169413464	0.43878	2.67228	0.0173002234650802	0.40519	2.419419	0.995086604411265	0.33945	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.530356	0.10902	0	.	.	5.65	5.65	0.86881	6.395000	0.73157	6.069000	0.53240	0.661000	0.55757	1.000000	0.71638	1.000000	0.68203	0.026000	0.12556	0.0:0.0:0.0:1.0	13.825	0.62836	599	0.68140	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	3264.77	35	chr13	46082502	.	T	C	3264.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.708;DP=768;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.79;ReadPosRankSum=-0.891;SOR=0.706	GT:AD:DP:GQ:PL	0/1:48,43:91:99:1074,0,1170	17	1	1	0
chr13	51942395	51942395	C	T	exonic	ATP7B	.	nonsynonymous SNV	ATP7B:NM_001005918:exon11:c.G2782A:p.A928T,ATP7B:NM_001330579:exon13:c.G3151A:p.A1051T,ATP7B:NM_001330578:exon14:c.G3169A:p.A1057T,ATP7B:NM_000053:exon15:c.G3403A:p.A1135T,ATP7B:NM_001243182:exon16:c.G3070A:p.A1024T	Wilson disease, Autosomal recessive	0	1519	3	0	0	3	0.000986518	.	.	YES	527795	not_specified|not_provided|Wilson_disease	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010200,MedGen:C0019202,OMIM:277900,Orphanet:905	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.167	.	0.0003	0.00199681	0.0052	0	0	0	0.0534	0.0038	0.0178	6.056e-05	0.0040491	626	154602	rs187200982	0.0025	0.0025	0.0025	0.0025	0.0005	0.0024	0.0024	0.0005	0.0004	2.987e-05	0	3.826e-05	0.0002	0.0548	0.0002	0.0005	0.0029	0.0003	0.0047	0.0047	0.0027	0.0067	0.0014	0.0044	0.0043	0.0012	0.0011	2.407e-05	0	6.54e-05	0	0.0002	0.0573	0	0.0014	0.0024	0.0002	0.603	0.05790	T	0.602	0.07894	T	0.0	0.20130	B	0.001	0.25278	B	0.082095	0.02365	N	1.843910	1	0.08975	N	0.135	0.08676	N	-3.89	0.97242	D	0.19	0.10833	N	0.115	0.10911	0.156	0.85159	D	0.605	0.85979	D	10	0.0021025836	0.00030	T	.	.	.	0.167	0.42761	.	.	0.654553869521	0.65167	0.47490297824234395	0.47409	0.0575941359263	0.06381	0.227259367704	0.01772	T	0.518598	0.83122	D	-0.413832	0.01875	T	-0.365851	0.37374	T	0.0128227865966227	0.00218	T	0.446455	0.16784	T	0.025658986	0.01529	0.04060221	0.04426	0.021958072	0.00827	0.031772524	0.01813	-3.753	0.20104	T	0.07758475157762715	0.03649	0.066	0.02257	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	-1.458612	0.00321	0.005	0.52879314227800156	0.04832	0.00604	0.02691	N	AEFDBI	0.040556	0.06048	N	-1.65924043187841	0.00997	0.04320475	-1.72038946912443	0.01050	0.04712847	0.998683987135627	0.37455	0.615465	0.37627	0	0.563428	0.19063	0	0.49644	0.08281	0	0.655142	0.61905	0	.	.	5.15	-6.84	0.01527	-2.972000	0.00732	-20.000000	0.00162	-0.855000	0.02678	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.097:0.1281:0.1048:0.6702	6.930	0.23617	459	0.78817	.;.;.;.;.;.;.	.	.	.	.	rs187200982	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2842.83	34	chr13	51942395	.	C	T	2842.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.575;DP=849;ExcessHet=0.119;FS=3.584;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=2.15;SOR=0.507	GT:AD:DP:GQ:PL	0/1:69,54:123:99:1244,0,1846	17	0	2	0
chr13	52152646	52152646	T	C	exonic	NEK3	.	nonsynonymous SNV	NEK3:NM_001146099:exon5:c.A356G:p.H119R,NEK3:NM_002498:exon5:c.A356G:p.H119R,NEK3:NM_152720:exon5:c.A356G:p.H119R	.	436	1085	1	0	0	1	0.000460617	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.882	0.061701922285	.	0.000998403	0.0005	0	8.691e-05	0.0061	0	3.017e-05	0	0	0.0003881	60	154602	rs141399003	0.0001	0.0001	0.0001	0.0001	0.0037	0.0001	0.0001	0.0032	0.0030	0	2.255e-05	0	0.0037	0	0	3.241e-05	0.0001	0	0.0002	0.0002	0.0002	0.0002	0.0050	0.0001	0.0001	0.0035	0.0030	0	0	6.539e-05	0	0.0050	0	0	0	0	0	.	.	.	0.005	0.72224	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	0.999999	0.58761	D	3.135	0.88152	M	.	.	.	.	.	.	0.98	0.99100	0.545	0.91170	D	0.699	0.89627	D	9	0.109850705	0.20508	T	0.061702	0.68417	D	.	.	.	.	0.429091045357	0.42525	0.9404636316206417	0.94027	.	.	0.671794116497	0.63094	T	0.190065	0.54449	T	-0.0409546	0.45805	T	0.171563	0.81503	D	0.237147584444888	0.22288	T	0.911709	0.72041	D	0.4568961	0.64478	0.44854242	0.67895	0.4568961	0.64479	0.44854242	0.67896	-12.378	0.86643	D	.	.	0.878	0.86484	P	.;.;.;.	.;.;.;.	4.557084	0.71774	25.7	0.99789044923107628	0.87484	0.98829	0.87402	D	AEFBI	0.864959	0.78390	D	0.743340063600151	0.82468	7.770603	0.755013363101041	0.86531	8.919167	0.999999395334807	0.74766	0.615465	0.37627	0	0.588015	0.36545	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.92	5.92	0.95557	7.362000	0.78764	7.663000	0.64347	0.644000	0.52426	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:0.0:0.0:1.0	16.370	0.83187	718	0.55760	Protein kinase domain|Protein kinase domain|Protein kinase domain;.;Protein kinase domain|Protein kinase domain|Protein kinase domain;Protein kinase domain|Protein kinase domain|Protein kinase domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	996.33	36	chr13	52152646	.	T	C	996.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.712;DP=761;ExcessHet=0;FS=6.045;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.9;ReadPosRankSum=-0.568;SOR=1.169	GT:AD:DP:GQ:PL	0/1:66,46:112:99:1010,0,1545	18	0	1	0
chr13	69882456	69882456	G	A	exonic	KLHL1	.	nonsynonymous SNV	KLHL1:NM_001286725:exon4:c.C871T:p.L291F,KLHL1:NM_020866:exon5:c.C1054T:p.L352F	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.426	0.0648284192983	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.021	0.63109	D	0.998	0.73220	D	0.992	0.80445	D	0.000036	0.55875	D	0.000000	0.986518	0.40444	D	2.89	0.83701	M	-0.39	0.69158	T	-2.91	0.60982	D	0.547	0.58629	0.346	0.88281	D	0.580	0.84898	D	10	0.5550405	0.64469	D	0.064828	0.69397	D	0.426	0.73372	0.457	0.52265	0.77630264569	0.77424	0.20463235290269857	0.20380	0.210258746393	0.23511	0.712280154228	0.68924	T	0.595999	0.86982	D	0.0531689	0.58749	T	-0.161403	0.58226	T	0.988282024860382	0.78636	D	0.964204	0.86724	D	0.46265322	0.64836	0.37256262	0.62462	0.46265322	0.64837	0.37256262	0.62462	-10.752	0.78280	D	.	.	0.481	0.63722	A	.;.	.;.	5.474448	0.91308	32	0.99901283922638506	0.97275	0.94895	0.62702	D	AEFI	0.697597	0.65555	D	0.812871305168358	0.86905	9.037639	0.740323524884371	0.85433	8.578981	0.985978107960792	0.30982	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	5.08	5.08	0.68373	3.554000	0.53466	11.664000	0.94021	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	18.834	0.92121	907	0.22727	BTB/Kelch-associated|BTB/Kelch-associated;BTB/Kelch-associated|BTB/Kelch-associated	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3421	830.1	154	chr13	69882456	.	G	A	830.1	.	AC=13;AF=0.342;AN=38;BaseQRankSum=-2.494;DP=2397;ExcessHet=13.8672;FS=177.744;InbreedingCoeff=-0.5332;MLEAC=13;MLEAF=0.342;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=0.578;SOR=13.216	GT:AD:DP:GQ:PL	0/1:60,28:95:27:27,0,1032	6	0	13	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3438	1600.25	68	chr13	102738219	.	C	G	1600.25	.	AC=11;AF=0.344;AN=32;BaseQRankSum=-5.612;DP=3603;ExcessHet=8.9063;FS=275.066;InbreedingCoeff=-0.4786;MLEAC=12;MLEAF=0.375;MQ=60;MQRankSum=0;QD=0.74;ReadPosRankSum=2.08;SOR=13.102	GT:AD:DP:GQ:PL	0/1:175,61:247:99:255,0,4250	5	0	11	3
chr13	107866338	107866338	-	CTG	exonic	FAM155A	.	nonframeshift insertion	FAM155A:NM_001080396:exon1:c.258_259insCAG:p.Q86_R87insQ	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0076	.	0.0091	0.0050	0.0086	0.0013	0.0041	0.0124	0.0060	0.0061	0.0029199	76	26028	rs775886294	0.0085	0.0085	0.0086	0.0085	0.0271	0.0084	0.0083	0.0236	0.0222	0.0040	0.0083	0.0179	0.0012	0.0040	0.0271	0.0090	0.0108	0.0051	0.0081	0.0080	0.0085	0.0076	0.0123	0.0077	0.0075	0.0109	0.0103	0.0038	0.0518	0.0123	0.0165	0.0022	0.0039	0.0139	0.0098	0.0110	0.0057	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	2305.5	41	chr13	107866338	.	T	TCTG	2305.5	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.384;DP=859;ExcessHet=0.3672;FS=11.018;InbreedingCoeff=-0.088;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=0.033;SOR=0.295	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:24,32:56:99:.:.:1230,0,892:.	17	0	2	0
chr13	110176691	110176691	C	T	exonic	COL4A1	.	nonsynonymous SNV	COL4A1:NM_001845:exon35:c.G2903A:p.R968Q	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, Autosomal dominant;Brain small vessel disease with or without ocular anomalies, Autosomal dominant;Porencephaly 1, Autosomal dominant	0	1516	5	1	0	7	0.00230339	.	.	YES	194108	Autosomal_dominant_familial_hematuria-retinal_arteriolar_tortuosity-contractures_syndrome|not_provided|Brain_small_vessel_disease_1_with_or_without_ocular_anomalies	MONDO:MONDO:0012726,MedGen:C2673195,OMIM:611773,Orphanet:73229|MedGen:C3661900|MONDO:MONDO:0008289,MedGen:C4551998,OMIM:175780,Orphanet:2940,Orphanet:36383,Orphanet:99810	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.244	0.0738064646741	7.7e-05	.	0.0001	9.632e-05	0.0002	0	0	0.0001	0	0.0002	0.0001229	19	154602	rs146288748	8.961e-05	8.961e-05	8.712e-05	9.213e-05	0.0005	7.689e-05	7.233e-05	0.0001	7.816e-05	2.987e-05	0.0002	0	2.519e-05	0	0.0005	8.993e-05	6.623e-05	0.0002	8.54e-05	8.536e-05	7.707e-05	9.412e-05	0.0003	4.956e-05	3.962e-05	8.876e-05	5.385e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.298	0.14595	T	0.655	0.06621	T	0.449	0.36046	B	0.364	0.43306	B	0.019126	0.27326	N	0.324291	0.999999	0.08975	N	0.86	0.21358	L	-3.23	0.93414	D	-0.62	0.18248	N	0.133	0.12913	-0.3453	0.73690	T	0.580	0.84880	D	10	0.16859084	0.31420	T	0.073806	0.71881	D	0.244	0.55061	.	.	0.620479444693	0.61740	0.6471600835659421	0.64651	0.506950961396	0.48887	0.288857698441	0.08756	T	0.393646	0.75300	T	-0.218638	0.18180	T	-0.255642	0.49258	T	0.040763618011765	0.03829	T	0.867913	0.56927	D	0.030958865	0.02851	0.049348976	0.07522	0.030958865	0.02851	0.049348976	0.07521	-3.626	0.18233	T	0.106254873563726	0.08520	0.071	0.03811	B	.	.	2.099930	0.26715	17.21	0.99299258518667199	0.58577	0.10989	0.16331	N	AEFBI	0.113444	0.22384	N	-0.361905948180846	0.26837	1.467763	-0.277309895507322	0.28846	1.611607	0.959937017326273	0.28457	0.744818	0.98587	0	0.59043	0.45803	0	0.732433	0.93434	0	0.711	0.71501	0	.	.	6.06	4.34	0.51267	-0.349000	0.07779	1.748000	0.28453	0.599000	0.40250	0.000000	0.06391	0.933000	0.28592	0.655000	0.32830	0.13:0.6092:0.1257:0.1351	4.237	0.10082	994	0.00715	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1625.33	36	chr13	110176691	.	C	T	1625.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.435;DP=812;ExcessHet=0;FS=0.639;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=-1.394;SOR=0.768	GT:AD:DP:GQ:PL	0/1:69,65:134:99:1639,0,1807	18	0	1	0
chr13	110456968	110456968	C	-	exonic	COL4A2-AS2	.	frameshift deletion	COL4A2-AS2:NM_001267044:exon5:c.757delG:p.D253Tfs*105	.	337	1183	1	1	0	3	0.00126636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs753573551	9.671e-06	0.0004	0	1.7e-05	6.003e-06	2.57e-06	7.1e-07	.	.	0	0	0	0	0.0001	0	6.003e-06	0	0	0.0009	0.0026	0.0010	0.0008	0.0020	0.0007	0.0007	0.0010	0.0008	0.0003	0	0.0016	0.0011	0.0015	0.0008	0	0.0010	0	0.0020	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	212.29	22	chr13	110456967	.	TC	T	212.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.92;DP=657;ExcessHet=0;FS=15.237;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=49.17;MQRankSum=0.935;QD=6.24;ReadPosRankSum=-4.06;SOR=1.872	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:22,12:34:99:0|1:110456942_C_G:226,0,866:110456942	18	0	1	0
chr13	110457152	110457193	TGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	-	exonic	COL4A2-AS2	.	nonframeshift deletion	COL4A2-AS2:NM_001267044:exon5:c.532_573del:p.G178_A191del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1312441160	0.0011	0.0098	0.0013	0.0009	0.0039	0.0010	0.0010	0.0032	0.0029	0.0018	0.0012	0.0014	0.0039	0.0004	0.0019	0.0009	0.0017	0.0005	3.351e-05	0.0012	6.529e-05	0	0.0001	5.56e-06	2.08e-06	.	.	0	0	0.0001	0	0	0	0	3.458e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	372.26	8	chr13	110457151	.	GTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTGATGCCC	G	372.26	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.78;DP=627;ExcessHet=0;FS=7.299;InbreedingCoeff=-0.0654;MLEAC=1;MLEAF=0.029;MQ=50.95;MQRankSum=-0.812;QD=24.82;ReadPosRankSum=0.403;SOR=1.981	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,12:15:30:.:.:385,0,30:.	16	0	1	2
chr13	110457193	110457193	C	0	exonic	COL4A2-AS2	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07692	68.54	10	chr13	110457193	.	C	*	68.54	.	AC=2;AF=0.077;AN=26;DP=661;ExcessHet=0.0101;FS=6.166;InbreedingCoeff=0.1246;MLEAC=2;MLEAF=0.077;MQ=47.41;QD=4.57;SOR=1.901	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,12:15:30:.:.:385,0,30:.	11	0	2	6
chr13	110642422	110642422	C	T	exonic	CARS2	.	nonsynonymous SNV	CARS2:NM_024537:exon14:c.G1516A:p.E506K,CARS2:NM_001352252:exon15:c.G730A:p.E244K	Combined oxidative phosphorylation deficiency 27, Autosomal recessive	389	1131	2	0	0	2	0.000883392	.	.	.	641560	Inborn_genetic_diseases|not_provided|Combined_oxidative_phosphorylation_defect_type_27	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0014728,MedGen:C5567608,OMIM:616672,Orphanet:477774	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.009	0.0067301076816	0.0002	0.000199681	0.0002	0.0004	0	0.0012	0	4.208e-05	0	0.0003	9.06e-05	14	154602	rs368624802	8.149e-05	8.414e-05	8.233e-05	8.065e-05	0.0007	6.933e-05	6.482e-05	0.0003	0.0002	0.0004	4.611e-05	0	0.0002	0	0.0007	3.979e-05	0.0004	0.0003	0.0001	0.0001	0.0002	0.0001	0.0006	9.139e-05	7.696e-05	0.0002	0.0001	0.0003	0	6.533e-05	0	0.0006	0	0.0034	4.41e-05	0	0.0002	0.333	0.13003	T	0.437	0.13441	T	0.135	0.27304	B	0.013	0.16460	B	0.014333	0.28565	N	0.403765	1	0.08975	N	2.045	0.56016	M	1.59	0.28836	T	-1.37	0.33998	N	0.243	0.27435	-1.0445	0.15971	T	0.050	0.21182	T	10	0.020424873	0.00470	T	0.00673	0.17784	T	0.009	0.00846	.	.	0.36893422563	0.36505	0.18897369520343577	0.18815	0.197323763495	0.22113	0.428788840771	0.29043	T	0.116054	0.43510	T	-0.492367	0.00631	T	-0.632648	0.10214	T	0.0151615425625169	0.00331	T	0.730127	0.34567	T	0.054062314	0.10320	0.06079956	0.11636	0.054062314	0.10319	0.06079956	0.11636	-5.233	0.39275	T	.	.	0.081	0.08368	B	.	.	1.192736	0.15842	12.14	0.95212753448433707	0.26421	0.13597	0.17946	N	AEFDBHCI	0.066372	0.12995	N	-0.805912415354061	0.13159	0.646309	-0.840002700998457	0.13528	0.7022639	0.999981623884906	0.51787	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.12	2.36	0.28258	0.600000	0.23803	0.285000	0.16810	0.524000	0.24156	0.001000	0.13787	0.000000	0.08366	0.008000	0.08271	0.0:0.5973:0.2553:0.1474	7.208	0.25095	988	0.01987	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2109.33	33	chr13	110642422	.	C	T	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.06;DP=810;ExcessHet=0;FS=3.928;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.45;ReadPosRankSum=1.51;SOR=0.452	GT:AD:DP:GQ:PL	0/1:60,86:146:99:2123,0,1299	18	0	1	0
chr13	112547535	112547535	T	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	1352.82	264	chr13	112547535	.	T	*	1352.82	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-0.645;DP=2091;ExcessHet=0.1504;FS=0.529;InbreedingCoeff=0.2083;MLEAC=5;MLEAF=0.132;MQ=59.9;MQRankSum=1.43;QD=1.19;ReadPosRankSum=-1.701;SOR=0.748	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,83:170:99:0|1:112547535_T_*:3049,0,4118:112547535	15	1	3	0
chr13	112547538	112547553	ATGGGAAAGTCGCGCG	0	exonic	TUBGCP3	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1316	18480.0	264	chr13	112547538	.	ATGGGAAAGTCGCGCG	*	18480.0	.	AC=5;AF=0.132;AN=38;BaseQRankSum=0.234;DP=2512;ExcessHet=0.3394;FS=2.695;InbreedingCoeff=0.1815;MLEAC=5;MLEAF=0.132;MQ=59.98;MQRankSum=0;QD=10.15;ReadPosRankSum=0.881;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:2,83:133:99:.:.:4553,1488,4207:.	15	1	3	0
chr13	112547538	112547538	-	TGGGAAAGTCGCGCG	exonic	TUBGCP3	.	nonframeshift insertion	TUBGCP3:NM_001286279:exon10:c.1249_1250insCGCGCGACTTTCCCA:p.P416_M417insTRDFP	.	453	433	214	38	384	674	0.250865	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0002	0.0011	0.0010	0	0.0002	0	0.0007	0.0002587	40	154602	rs1207556062	0.0012	0.0014	0.0012	0.0013	0.0077	0.0012	0.0011	0.0069	0.0066	0.0002	0.0030	6.233e-05	0.0077	0.0018	0.0010	0.0009	0.0015	0.0013	0.0024	0.0024	0.0023	0.0024	0.0090	0.0021	0.0021	0.0077	0.0072	0.0006	0	0.0090	0.0003	0.0049	0.0019	0	0.0019	0.0041	0.0014	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	18480.0	264	chr13	112547538	.	A	ATGGGAAAGTCGCGCG	18480.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.234;DP=2512;ExcessHet=0.3394;FS=2.695;InbreedingCoeff=0.1815;MLEAC=1;MLEAF=0.026;MQ=59.98;MQRankSum=0;QD=10.15;ReadPosRankSum=0.881;SOR=0.94	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:2,48:133:99:.:.:4553,3163,3047:.	18	0	1	0
chr13	113510409	113510409	C	T	exonic	TMCO3	.	nonsynonymous SNV	TMCO3:NM_001349742:exon6:c.C1018T:p.R340W,TMCO3:NM_001349745:exon6:c.C1018T:p.R340W,TMCO3:NM_001349741:exon7:c.C1210T:p.R404W,TMCO3:NM_001349744:exon7:c.C1210T:p.R404W,TMCO3:NM_017905:exon7:c.C1210T:p.R404W	.	.	.	.	.	.	.	.	.	.	.	2357503	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.237	0.0409468977604	.	.	8.304e-05	0	0	0.0005	0	7.528e-05	0	6.299e-05	7.76e-05	12	154602	rs752452729	9.245e-05	9.235e-05	8.994e-05	9.5e-05	0.0001	7.967e-05	7.439e-05	9.207e-05	8.615e-05	2.991e-05	6.717e-05	0	0.0001	0	0	0.0001	4.976e-05	3.484e-05	3.944e-05	3.941e-05	2.57e-05	5.383e-05	8.819e-05	1.716e-05	1.13e-05	3.761e-05	2.575e-05	0	0	0	0	0	0	0	8.819e-05	0	0	0.004	0.78490	D	0.001	0.83351	D	1.0	0.90584	D	0.983	0.75793	D	0.000002	0.62929	D	0.059161	0.997639	0.44054	D	2.135	0.59519	M	1.15	0.38236	T	-1.83	0.47683	N	0.757	0.81758	-0.9857	0.33663	T	0.148	0.47326	T	10	0.21024647	0.37413	T	0.040947	0.59658	D	0.237	0.54074	0.577	0.70217	0.162503812791	0.15892	0.7042283382936141	0.70364	0.890069565383	0.70193	0.584398269653	0.50705	T	0.020178	0.15936	T	-0.261083	0.12773	T	-0.31248	0.43392	T	0.282185077179066	0.24263	T	0.966603	0.88252	D	0.1412473	0.32555	0.07052965	0.14995	0.1412473	0.32555	0.07052965	0.14995	-10.844	0.82802	D	.	.	0.146	0.45421	B	.;.;.;.	.;.;.;.	4.669736	0.74619	26.2	0.9956574375050945	0.72075	0.90754	0.52198	D	AEFDBI	0.534598	0.55357	D	-0.0698350893667075	0.38721	2.272212	-0.221649524557981	0.30762	1.734828	0.984648065706452	0.30751	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.99	2.12	0.26372	5.450000	0.66369	3.188000	0.36689	-0.231000	0.07715	1.000000	0.71638	0.997000	0.33255	0.004000	0.06068	0.2771:0.6458:0.0:0.0772	8.075	0.29871	940	0.13648	Cation/H+ exchanger;.;.;Cation/H+ exchanger	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1088.33	33	chr13	113510409	.	C	T	1088.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.75;DP=731;ExcessHet=0;FS=5.491;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-0.063;SOR=1.524	GT:AD:DP:GQ:PL	0/1:29,38:67:99:1102,0,657	18	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	.	.	.	.	.	.	.	.	0.054	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	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.0625	145.45	35	chr14	20747837	.	G	A	145.45	.	AC=2;AF=0.063;AN=32;BaseQRankSum=-3.714;DP=1476;ExcessHet=0.119;FS=206.073;InbreedingCoeff=-0.1079;MLEAC=2;MLEAF=0.063;MQ=60;MQRankSum=0;QD=0.87;ReadPosRankSum=-0.281;SOR=9.657	GT:AD:DP:GQ:PL	0/1:50,21:71:62:62,0,1064	14	0	2	3
chr14	21087322	21087322	G	A	exonic	ARHGEF40	.	nonsynonymous SNV	ARHGEF40:NM_001278529:exon21:c.G2104A:p.A702T,ARHGEF40:NM_018071:exon21:c.G4246A:p.A1416T	.	423	1095	4	0	0	4	0.00182315	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.0189261813073	0.0044	0.00139776	0.0042	0.0007	0.0014	0	0.0067	0.0056	0.0090	0.0032	0.0041138	636	154602	rs55901089	0.0062	0.0062	0.0062	0.0063	0.0071	0.0061	0.0061	0.0070	0.0070	0.0010	0.0016	0.0023	2.523e-05	0.0073	0.0011	0.0071	0.0063	0.0029	0.0038	0.0038	0.0041	0.0035	0.0062	0.0036	0.0035	0.0057	0.0055	0.0011	0	0.0020	0.0029	0.0002	0.0063	0	0.0062	0.0019	0.0012	0.151	0.24564	T	0.045	0.49390	D	0.999	0.77913	D	0.96	0.70309	D	0.000248	0.46924	D	0.000000	0.607942	0.81001	D	1.445	0.36358	L	4.29	0.02462	T	-0.86	0.23372	N	0.488	0.52208	-0.7337	0.58776	T	0.012	0.04463	T	10	0.0101214945	0.00226	T	0.018926	0.41149	T	0.132	0.35948	.	.	0.503374072614	0.49975	0.37895161555303936	0.37810	0.840954648635	0.68066	0.708660542965	0.68400	T	0.009216	0.08406	T	-0.482514	0.00715	T	-0.463401	0.26230	T	0.0202180144932467	0.00722	T	0.817418	0.47426	T	0.12174102	0.28621	0.1018196	0.24385	0.12174102	0.28621	0.1018196	0.24384	-5.781	0.44408	T	.	.	0.397	0.59427	A	.	.	5.133952	0.85931	28.7	0.99868614860540739	0.94637	0.85461	0.44596	D	AEFDBHCIJ	0.596229	0.59048	D	0.416373474756849	0.62321	4.446252	0.456048396387857	0.65108	4.782028	0.999999998924645	0.74766	0.645754	0.44609	0	0.59043	0.45803	0	0.696144	0.63334	0	0.622129	0.49086	0	.	.	5.05	5.05	0.67566	4.395000	0.59439	10.003000	0.83052	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	13.898	0.63288	958	0.09170	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001512	0.000000	0.002717	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	623.33	34	chr14	21087322	.	G	A	623.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.72;DP=675;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.4;ReadPosRankSum=0.249;SOR=0.582	GT:AD:DP:GQ:PL	0/1:18,20:38:99:637,0,425	18	0	1	0
chr14	22929213	22929213	T	G	exonic	PRMT5	.	nonsynonymous SNV	PRMT5:NM_001039619:exon1:c.A13C:p.N5H,PRMT5:NM_001282953:exon1:c.A13C:p.N5H,PRMT5:NM_001282956:exon1:c.A13C:p.N5H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.149	0.0062656355789	.	.	2.473e-05	0	0	0	0	2.998e-05	0	6.075e-05	1.94e-05	3	154602	rs750970626	2.121e-05	2.121e-05	1.906e-05	2.338e-05	0.0001	1.52e-05	1.324e-05	6.247e-05	4.758e-05	0	2.236e-05	0	0	0	0	1.709e-05	1.656e-05	0.0001	1.975e-05	1.971e-05	2.573e-05	1.349e-05	2.418e-05	5.25e-06	2.46e-06	.	.	2.418e-05	0	0	0	0	0	0	1.472e-05	0.0005	0	0.024	0.91255	D	0.186	0.45530	T	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-0.38	0.14588	N	0.399	0.44761	-1.0581	0.12235	T	0.073	0.29451	T	8	0.1365026	0.25970	T	0.006266	0.16435	T	0.149	0.39377	0.091	0.01065	0.35158688536	0.34763	.	.	.	.	.	.	.	.	.	.	-0.376256	0.03289	T	-0.541573	0.18143	T	0.10432717949152	0.12825	T	0.578742	0.20864	T	.	.	.	.	.	.	.	.	-3.834	0.25394	T	.	.	0.086	0.10787	B	.;.;.	.;.;.	1.944794	0.24705	16.49	0.80925919542576374	0.13435	0.39789	0.26291	N	AEFDGBHCI	0.256161	0.37514	N	-0.515147306304915	0.21590	1.146895	-0.379516602588657	0.25608	1.409328	0.999999999999937	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.372554	0.06265	0	.	.	4.84	1.24	0.20416	0.167000	0.16419	1.198000	0.24816	0.665000	0.62972	0.923000	0.32050	0.975000	0.29991	0.995000	0.73285	0.1868:0.1997:0.0:0.6135	2.826	0.05149	785	0.46916	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	2274.33	34	chr14	22929213	.	T	G	2274.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.26;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.47;ReadPosRankSum=-1.74;SOR=0.649	GT:AD:DP:GQ:PL	0/1:63,84:147:99:2288,0,1467	18	0	1	0
chr14	24300437	24300437	G	C	exonic	NOP9	.	nonsynonymous SNV	NOP9:NM_001286367:exon2:c.G277C:p.V93L,NOP9:NM_174913:exon2:c.G277C:p.V93L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.00576105487957	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0.0050	0.0003	0.0003	0.0004	0.0003	0.0003	0.0004	0.0003	0.0002	2.243e-05	0.0001	0	0	0.0002	0.0004	0.0003	7.042e-05	1.319e-05	5.919e-05	1.29e-05	1.35e-05	0.0002	2.19e-06	8.2e-07	.	.	0	0	0	0	0	0	0	1.474e-05	0	0.0002	0.197	0.23183	T	0.214	0.26386	T	0.008	0.14655	B	0.009	0.14300	B	0.000069	0.52346	D	0.072968	0.996321	0.43140	D	2.585	0.75554	M	2.67	0.12473	T	-0.93	0.24898	N	0.223	0.25006	-1.0617	0.11336	T	0.026	0.11220	T	10	0.2473082	0.42010	T	0.005761	0.14952	T	0.054	0.15330	0.682	0.81982	0.280181792013	0.27631	0.43155452972977676	0.43072	0.241845707043	0.26701	0.518697142601	0.41442	T	0.026513	0.19606	T	-0.1628	0.26331	T	-0.471627	0.25341	T	0.867119252681732	0.51714	D	.	.	.	0.2700367	0.50075	0.25238276	0.50866	0.2700367	0.50075	0.25238276	0.50865	-4.398	0.29530	T	.	.	0.406	0.62127	A	.;.	.;.	3.392337	0.46977	22.4	0.98957409412611974	0.49266	0.70411	0.34579	D	AEFDGBHCI	0.404589	0.47781	N	-0.158710929101413	0.34866	1.995547	0.0346132377272474	0.41334	2.481569	0.99999908900984	0.74766	0.766844	0.99359	0	0.672317	0.65289	0	0.851219	0.99655	0	0.638787	0.57140	0	.	.	5.05	4.09	0.47038	3.594000	0.53755	8.281000	0.76903	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:0.0:0.8459:0.1541	14.766	0.69261	867	0.32089	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1923	681.04	170	chr14	24300437	.	G	C	681.04	.	AC=5;AF=0.192;AN=26;BaseQRankSum=-4.585;DP=2057;ExcessHet=1.3;FS=376.992;InbreedingCoeff=-0.281;MLEAC=7;MLEAF=0.269;MQ=60;MQRankSum=0;QD=1.11;ReadPosRankSum=1.41;SOR=11.394	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:104,38:142:99:.:.:136,0,2657:.	8	0	5	6
chr14	24306373	24306373	C	T	splicing	CIDEB	NM_014430:exon5:c.336+1G>A;NM_001318807:exon6:c.336+1G>A	.	.	.	423	1083	15	1	0	17	0.00778745	1.0000	0.932	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.00119808	0.0007	0	0.0010	0	0	0.0007	0.0011	0.0016	0.000705	109	154602	rs146737422	0.0005	0.0005	0.0004	0.0005	0.0088	0.0004	0.0004	0.0069	0.0062	0.0001	0.0011	3.826e-05	0	5.616e-05	0.0088	0.0003	0.0007	0.0016	0.0006	0.0006	0.0006	0.0006	0.0027	0.0005	0.0005	0.0016	0.0013	0.0001	0	0.0016	0	0	9.413e-05	0.0034	0.0006	0.0028	0.0027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0242678	0.48243	T	0.167737	0.81274	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	5.239424	0.87955	29.4	0.99074824237317693	0.51810	0.95398	0.64564	D	AEFDGBCI	.	.	.	0.895515431003367	0.91537	10.93455	0.69412066821763	0.81933	7.644	0.99999999999964	0.74766	0.295142	0.05270	0	0.278934	0.05175	0	0.343423	0.05949	0	0.322829	0.05601	0	0.971825	0.74108	5.03	5.03	0.67015	5.327000	0.65659	7.426000	0.58753	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.033000	0.13494	0.0:1.0:0.0:0.0	17.286	0.87029	867	0.32089	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1501.33	35	chr14	24306373	.	C	T	1501.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.964;DP=750;ExcessHet=0;FS=1.636;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.44;ReadPosRankSum=-0.267;SOR=0.537	GT:AD:DP:GQ:PL	0/1:48,56:104:99:1515,0,1219	18	0	1	0
chr14	34801177	34801177	T	C	exonic	BAZ1A	.	nonsynonymous SNV	BAZ1A:NM_013448:exon8:c.A878G:p.N293S,BAZ1A:NM_182648:exon8:c.A878G:p.N293S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.047	0.0108301134929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.484	0.09155	T	0.868	0.03589	T	0.0	0.02946	B	0.001	0.04355	B	0.469896	0.04919	N	1.279500	0.954269	0.26375	N	0.315	0.10303	N	0.49	0.55775	T	-0.99	0.26200	N	0.029	0.00666	-1.0371	0.18202	T	0.075	0.30210	T	10	0.03860995	0.02292	T	0.01083	0.27810	T	0.047	0.12962	0.197	0.10975	0.248133497653	0.24425	0.14549512418622482	0.14472	0.21363709283	0.23881	0.308223843575	0.11638	T	0.017936	0.14543	T	-0.347857	0.04863	T	-0.737449	0.03998	T	0.0429265267772065	0.04223	T	0.667233	0.27634	T	0.017248742	0.00257	0.021575375	0.00204	0.017248742	0.00257	0.021575375	0.00204	-2.753	0.07759	T	.	.	0.059	0.00847	B	.;.;.	.;.;.	-0.056329	0.03909	0.861	0.92407764220679312	0.21821	0.06221	0.12208	N	AEDBI	0.034249	0.04210	N	-0.991106270078904	0.08792	0.4136405	-0.911145590001133	0.11831	0.6051257	0.00652843808996885	0.11241	0.706548	0.73137	0	0.724815	0.89359	0	0.608884	0.39905	0	0.714379	0.83352	0	.	.	5.13	0.00961	0.13401	-0.910000	0.04163	-1.145000	0.06197	0.609000	0.47794	0.004000	0.16614	0.002000	0.18203	0.726000	0.34967	0.0:0.2632:0.2918:0.445	4.781	0.12574	951	0.11083	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	626.33	33	chr14	34801177	.	T	C	626.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.726;DP=670;ExcessHet=0;FS=4.032;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=-1.727;SOR=1.372	GT:AD:DP:GQ:PL	0/1:29,25:54:99:640,0,716	18	0	1	0
chr14	50723510	50723510	T	G	exonic	NIN	.	nonsynonymous SNV	NIN:NM_020921:exon31:c.A6355C:p.N2119H	.	.	.	.	.	.	.	.	.	.	.	3845349	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.069	0.0127990220681	.	0.000199681	8.293e-06	0	0	0	0	1.5e-05	0	0	1.29e-05	2	154602	rs572352459	2.053e-05	2.052e-05	2.315e-05	1.788e-05	0.0004	1.456e-05	1.264e-05	0.0003	0.0002	0.0004	0	0	0	0	0	1.439e-05	0	0	3.948e-05	3.94e-05	3.862e-05	4.038e-05	0.0001	1.717e-05	1.131e-05	4.739e-05	3.053e-05	0.0001	0	0	0	0	0	0	1.472e-05	0	0	0.024	0.47745	D	0.047	0.48855	D	0.996	0.68779	D	0.939	0.67449	D	0.005287	0.32928	N	0.315765	1	0.81001	D	.	.	.	1.56	0.29602	T	-1.45	0.35597	N	0.343	0.38438	-1.0387	0.17709	T	0.098	0.36677	T	10	0.22942027	0.39869	T	0.012799	0.31686	T	0.069	0.20116	0.256	0.19689	0.548865971634	0.54542	.	.	.	.	0.574543476105	0.49319	T	.	.	.	-0.329709	0.06134	T	-0.529852	0.19300	T	0.71762228012085	0.41579	D	0.868613	0.57103	D	.	.	.	.	.	.	.	.	-5.069	0.37579	T	.	.	0.158	0.34927	B	.;.	.;.	4.332891	0.66407	25.0	0.99540396411539511	0.70461	0.96544	0.69671	D	AEFBI	0.679668	0.64362	D	0.548298295939868	0.69978	5.434593	0.593745154370098	0.74491	6.14592	0.999999386163376	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.62	5.62	0.85714	5.513000	0.66754	6.053000	0.53107	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.984000	0.60418	0.0:0.077:0.0:0.923	9.753	0.39657	443	0.79878	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	990.33	33	chr14	50723510	.	T	G	990.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=711;ExcessHet=0;FS=1.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.25;ReadPosRankSum=-1.231;SOR=0.455	GT:AD:DP:GQ:PL	0/1:49,39:88:99:1004,0,1192	18	0	1	0
chr14	58213644	58213644	T	C	exonic	ACTR10	.	nonsynonymous SNV	ACTR10:NM_018477:exon6:c.T464C:p.I155T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.324	0.0362747916202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0026	0.0003	0.0002	0.0003	0.0002	0.0002	0.0003	0.0003	0.0002	0	8.123e-05	7.948e-05	1.955e-05	0	0.0003	0.0002	7.24e-05	6.639e-06	2.641e-05	0	1.359e-05	1.482e-05	0	0	.	.	0	0	0	0	0	0	0	1.482e-05	0	0	0.35	0.12305	T	0.45	0.12957	T	0.0	0.02946	B	0.001	0.04355	B	0.000051	0.53742	D	0.197305	0.974077	0.39075	D	0.06	0.08197	N	-3.44	0.94428	D	-1.31	0.32791	N	0.456	0.49328	0.114	0.84424	D	0.666	0.88403	D	10	0.36079857	0.52715	T	0.036275	0.56887	D	0.324	0.64624	0.434	0.48500	0.993195394259	0.99311	0.5930593215126997	0.59235	0.374889918543	0.38946	0.782578408718	0.79317	T	0.399172	0.75708	T	0.0213512	0.54564	T	-0.207107	0.53971	T	0.59854531288147	0.36343	D	0.833317	0.50212	T	0.060931925	0.12560	0.09373129	0.22154	0.060931925	0.12560	0.09373129	0.22154	-5.421	0.41121	T	.	.	0.486	0.63951	A	.	.	3.186553	0.43278	21.7	0.8580340382623457	0.16122	0.91508	0.53678	D	AEFBI	0.213280	0.33888	N	-0.111420387238393	0.36894	2.138883	0.0755270437198708	0.43321	2.636326	0.9557581108309	0.28208	0.732398	0.92422	0	0.743671	0.97443	0	0.709663	0.75317	0	0.727631	0.95156	0	.	.	5.8	5.8	0.92081	4.582000	0.60668	7.707000	0.66598	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.500000	0.29017	0.0:0.0786:0.0:0.9214	9.930	0.40688	881	0.29269	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4211	2170.86	43	chr14	58213644	.	T	C	2170.86	.	AC=16;AF=0.421;AN=38;BaseQRankSum=-2.448;DP=1186;ExcessHet=25.4433;FS=260.724;InbreedingCoeff=-0.7123;MLEAC=16;MLEAF=0.421;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.37;SOR=11.67	GT:AD:DP:GQ:PL	0/1:47,17:64:4:4,0,892	3	0	16	0
chr14	60118678	60118678	C	T	exonic	PCNX4	.	nonsynonymous SNV	PCNX4:NM_022495:exon6:c.C1226T:p.A409V,PCNX4:NM_001330177:exon7:c.C1928T:p.A643V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00881927067505	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.04e-06	8.893e-06	1.112e-05	2.853e-06	9.202e-06	3.56e-06	2.6e-06	4.65e-06	3.39e-06	0	0	0	0	0	0	9.202e-06	0	0	6.566e-06	6.562e-06	1.285e-05	0	.	0	0	.	.	0	0	0	0	0	0	0.0034	0	0	0	0.029	0.46129	D	0.196	0.43159	T	0.089	0.29046	B	0.017	0.21741	B	0.000000	0.84330	D	0.000000	0.999984	0.81001	D	1.93	0.51437	L	1.82	0.25182	T	-2.27	0.51811	N	0.214	0.25745	-1.0926	0.05112	T	0.072	0.29098	T	10	0.1736612	0.32205	T	0.008819	0.23269	T	0.075	0.21907	0.234	0.16305	0.180583059064	0.17676	0.6838740608051214	0.68326	0.0129856072913	0.01249	0.433189749718	0.29645	T	0.019989	0.24493	T	-0.0964561	0.37010	T	-0.376329	0.36151	T	0.776760935783386	0.44849	D	0.869013	0.57479	D	0.2856421	0.51585	0.22314222	0.47183	0.2856421	0.51584	0.22314222	0.47182	-5.461	0.41502	T	.	.	0.117	0.26232	B	.;.;.	.;.;.	3.369484	0.46553	22.3	0.99739434161826201	0.83409	0.98257	0.80997	D	AEFGBI	0.513372	0.54120	D	0.0874368603353201	0.45876	2.837015	0.23228248409557	0.51646	3.345476	0.999997430377815	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	5.23	0.72570	4.481000	0.59983	4.883000	0.45686	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.8531:0.0:0.1469	12.417	0.54835	603	0.67726	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1372.33	40	chr14	60118678	.	C	T	1372.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.395;DP=758;ExcessHet=0;FS=0.769;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=0.375;SOR=0.593	GT:AD:DP:GQ:PL	0/1:46,53:99:99:1386,0,1271	18	0	1	0
chr14	63599584	63599584	C	T	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.G359A:p.S120N,WDR89:NM_080666:exon3:c.G359A:p.S120N,WDR89:NM_001008726:exon4:c.G359A:p.S120N,WDR89:NM_001382423:exon4:c.G359A:p.S120N,WDR89:NM_001382424:exon4:c.G359A:p.S120N,WDR89:NM_001382425:exon4:c.G359A:p.S120N,WDR89:NM_001382426:exon4:c.G359A:p.S120N,WDR89:NM_001382427:exon4:c.G359A:p.S120N,WDR89:NM_001382428:exon5:c.G359A:p.S120N,WDR89:NM_001382429:exon5:c.G359A:p.S120N	.	436	1072	14	0	0	14	0.00648749	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.381	0.0594224361531	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1049802936	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0077	0.0001	0.0002	0.0006	0.0001	0.0001	0.0002	0.0002	0.0003	0	0.0001	0.0003	0	9.703e-05	0	0.0001	0	0.0006	0.007	0.59928	D	0.039	0.51112	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999886	0.50402	D	2.965	0.85198	M	-0.43	0.69657	T	-2.55	0.56144	D	0.808	0.89353	0.030	0.82846	D	0.516	0.81864	D	10	0.729669	0.74211	D	0.059422	0.67659	D	0.381	0.69863	0.656	0.79379	0.877729270176	0.87653	0.7186202673877694	0.71805	0.524831200014	0.50162	0.595262765884	0.52236	T	0.207992	0.56779	T	0.0332654	0.56159	T	-0.189993	0.55590	T	0.930429217723231	0.59512	D	0.827217	0.49530	T	0.48401013	0.66143	0.44344863	0.67561	0.48401013	0.66143	0.44344863	0.67561	-7.728	0.59202	D	.	.	0.629	0.73000	P	.;.;.;.	.;.;.;.	4.225425	0.63950	24.6	0.99573687300498392	0.72561	0.98290	0.81308	D	AEFGBI	0.614141	0.60157	D	0.825638100531887	0.87680	9.302957	0.800925121913269	0.89858	10.15104	0.999999957718002	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	5.225000	0.65124	6.012000	0.52660	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:1.0:0.0:0.0	20.038	0.97569	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	358.89	33	chr14	63599584	.	C	T	358.89	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.633;DP=1443;ExcessHet=0.3672;FS=10.016;InbreedingCoeff=-0.088;MLEAC=3;MLEAF=0.079;MQ=59.15;MQRankSum=-10.98;QD=0.62;ReadPosRankSum=-2.535;SOR=2.103	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,14:182:82:0|1:63599584_C_T:82,0,6939:63599584	16	0	3	0
chr14	63599585	63599585	T	G	exonic	WDR89	.	nonsynonymous SNV	WDR89:NM_001258272:exon3:c.A358C:p.S120R,WDR89:NM_080666:exon3:c.A358C:p.S120R,WDR89:NM_001008726:exon4:c.A358C:p.S120R,WDR89:NM_001382423:exon4:c.A358C:p.S120R,WDR89:NM_001382424:exon4:c.A358C:p.S120R,WDR89:NM_001382425:exon4:c.A358C:p.S120R,WDR89:NM_001382426:exon4:c.A358C:p.S120R,WDR89:NM_001382427:exon4:c.A358C:p.S120R,WDR89:NM_001382428:exon5:c.A358C:p.S120R,WDR89:NM_001382429:exon5:c.A358C:p.S120R	.	436	1070	16	0	0	16	0.00742115	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.636	0.079113870758	.	.	.	.	.	.	.	.	.	.	.	.	.	rs889833191	0	2.736e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	0.0079	0.0002	0.0003	0.0009	0.0002	0.0001	0.0003	0.0002	0.0004	0	0.0001	0.0003	0	9.696e-05	0	0.0001	0	0.0009	0.003	0.68238	D	0.04	0.50809	D	1.0	0.90584	D	0.982	0.75477	D	0.000001	0.84330	D	0.091231	0.999942	0.51968	D	2.965	0.85198	M	-0.44	0.69777	T	-3.76	0.71276	D	0.929	0.96758	0.036	0.82979	D	0.492	0.80698	T	10	0.849964	0.84171	D	0.079114	0.73159	D	0.636	0.86078	0.731	0.86460	0.915439794578	0.91458	0.8468957044921087	0.84650	0.578397025268	0.53743	0.607123553753	0.53909	T	0.217029	0.57935	T	0.339169	0.85780	D	0.249416	0.85593	D	0.985822659318314	0.76706	D	0.857114	0.55085	D	0.7603168	0.81472	0.71975005	0.83454	0.7603168	0.81473	0.71975005	0.83455	-12.65	0.87870	D	.	.	0.973	0.91683	P	.;.;.;.	.;.;.;.	4.634787	0.73723	26.0	0.99807925437057288	0.89174	0.97372	0.74333	D	AEFGBI	0.609297	0.59855	D	0.730345460544241	0.81622	7.565515	0.701598012198421	0.82500	7.782416	0.99988785508351	0.44867	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.62	5.62	0.85714	4.180000	0.58093	7.924000	0.74674	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:0.0:1.0	16.132	0.81260	854	0.34840	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	449.76	33	chr14	63599585	.	T	G	449.76	.	AC=4;AF=0.105;AN=38;BaseQRankSum=0.539;DP=1456;ExcessHet=0.7564;FS=10.068;InbreedingCoeff=-0.1171;MLEAC=4;MLEAF=0.105;MQ=59.14;MQRankSum=-10.98;QD=0.6;ReadPosRankSum=-2.477;SOR=2.065	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:168,15:183:99:0|1:63599584_C_T:124,0,6936:63599584	15	0	4	0
chr14	63599753	63599753	G	A	exonic	WDR89	.	stopgain	WDR89:NM_001258272:exon3:c.C190T:p.R64X,WDR89:NM_080666:exon3:c.C190T:p.R64X,WDR89:NM_001008726:exon4:c.C190T:p.R64X,WDR89:NM_001382423:exon4:c.C190T:p.R64X,WDR89:NM_001382424:exon4:c.C190T:p.R64X,WDR89:NM_001382425:exon4:c.C190T:p.R64X,WDR89:NM_001382426:exon4:c.C190T:p.R64X,WDR89:NM_001382427:exon4:c.C190T:p.R64X,WDR89:NM_001382428:exon5:c.C190T:p.R64X,WDR89:NM_001382429:exon5:c.C190T:p.R64X	.	430	1077	15	0	0	15	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.655e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs200681506	8.895e-06	3.831e-05	1.225e-05	5.502e-06	2.319e-05	4.96e-06	3.83e-06	3.85e-06	1.44e-06	0	0	0	0	0	0	5.396e-06	8.281e-05	2.319e-05	0.0002	0.0074	0.0002	0.0003	0.0004	0.0002	0.0001	0.0002	0.0001	0.0003	0	0.0004	0	0	0.0003	0	0.0001	0.0015	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	0.000463	0.44119	D	0.194702	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.144	0.27435	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.481121	0.93742	D	0.634849	0.97827	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.;Recessive;.	High;.;High;.	7.339368	0.96413	36	0.99756467363359924	0.84694	0.94639	0.61825	D	AEFGBI	0.098617	0.19868	N	0.909272293390907	0.92206	11.29225	0.757728745137247	0.86734	8.984897	0.999972014400061	0.50053	0.706548	0.73137	0	0.653731	0.59785	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	5.63	4.69	0.58546	2.909000	0.48456	5.651000	0.49183	-0.680000	0.04236	1.000000	0.71638	0.992000	0.31684	0.036000	0.13842	0.0:0.0:0.8692:0.1308	16.526	0.84179	854	0.34840	WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain;WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.07895	387.89	47	chr14	63599753	.	G	A	387.89	.	AC=3;AF=0.079;AN=38;BaseQRankSum=2.09;DP=1457;ExcessHet=0.3672;FS=9.948;InbreedingCoeff=-0.088;MLEAC=3;MLEAF=0.079;MQ=58.89;MQRankSum=-10.84;QD=0.64;ReadPosRankSum=-1.223;SOR=2.016	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:189,15:204:61:0|1:63599753_G_A:61,0,7613:63599753	16	0	3	0
chr14	64158707	64158707	T	C	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.T15875C:p.M5292T,SYNE2:NM_182914:exon86:c.T15875C:p.M5292T	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.00538161103081	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1245310548	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.57e-06	6.566e-06	0	1.345e-05	2.412e-05	0	0	.	.	2.412e-05	0	0	0	0	0	0	0	0	0	0.099	0.45039	T	0.026	0.60972	D	0.013	0.16609	B	0.009	0.14300	B	0.041119	0.23984	N	0.401918	0.999988	0.54805	D	1.655	0.42436	L	1.39	0.33842	T	-2.65	0.59710	D	0.474	0.55280	-1.0841	0.06572	T	0.073	0.29675	T	10	0.19718808	0.35641	T	0.005382	0.13801	T	0.143	0.38195	0.536	0.64585	0.319402600006	0.31557	0.3253330187294607	0.32446	0.0539322971594	0.05956	0.529864430428	0.43015	T	0.035396	0.50140	T	-0.123387	0.32572	T	-0.415013	0.31648	T	0.172842237501572	0.18771	T	0.611639	0.23235	T	0.08136348	0.18690	0.15216553	0.35812	0.08136348	0.18690	0.15216553	0.35811	-3.679	0.21014	T	.	.	0.191	0.41000	B	.;.;.;.;.	.;.;.;.;.	1.354212	0.17625	13.27	0.893201424526746	0.18696	0.58238	0.30589	D	AEFGBI	0.052091	0.09265	N	-0.429603788888434	0.24437	1.31946	-0.336983711819935	0.26915	1.489921	0.0805734006329366	0.15850	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	3.35	0.37468	0.797000	0.26660	0.426000	0.18273	0.661000	0.55757	1.000000	0.71638	0.995000	0.32472	1.000000	0.97212	0.0:0.0746:0.1466:0.7788	7.200	0.25051	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4412	2933.03	148	chr14	64158707	.	T	C	2933.03	.	AC=15;AF=0.441;AN=34;BaseQRankSum=-3.339;DP=2339;ExcessHet=20.8569;FS=186.487;InbreedingCoeff=-0.7246;MLEAC=16;MLEAF=0.471;MQ=60;MQRankSum=0;QD=1.57;ReadPosRankSum=0.532;SOR=11.003	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,38:131:99:.:.:652,0,2669:.	2	0	15	2
chr14	64158708	64158708	G	A	exonic	SYNE2	.	nonsynonymous SNV	SYNE2:NM_015180:exon86:c.G15876A:p.M5292I,SYNE2:NM_182914:exon86:c.G15876A:p.M5292I	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	2288662	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.077	0.00845025875398	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	0	1.375e-06	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.45039	D	0.033	0.53072	D	0.325	0.33132	B	0.108	0.31289	B	0.041119	0.23984	N	0.401918	1	0.81001	D	2.35	0.67516	M	1.39	0.33842	T	-1.61	0.43524	N	0.431	0.49965	-1.0717	0.09043	T	0.088	0.33968	T	10	0.25304455	0.42666	T	0.00845	0.22357	T	0.077	0.22490	0.515	0.61459	0.404034981753	0.40020	0.2659272823830213	0.26505	0.0746054716563	0.08373	0.455664932728	0.32718	T	0.114551	0.49765	T	-0.102013	0.36092	T	-0.384311	0.35217	T	0.684482932090759	0.39994	D	0.879912	0.59649	D	0.19624485	0.41445	0.17938405	0.40669	0.19624485	0.41444	0.17938405	0.40668	-3.183	0.12274	T	.	.	0.388	0.58884	A	.;.;.;.;.	.;.;.;.;.	2.504241	0.32334	19.01	0.96935941736678333	0.31676	0.86357	0.45621	D	AEFGBI	0.264582	0.38189	N	-0.124265557851592	0.36337	2.099065	-0.0236316895668092	0.38649	2.280163	0.900501724960891	0.26077	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.645948	0.59608	0	.	.	5.77	4.86	0.62624	4.416000	0.59567	4.462000	0.43463	0.672000	0.70159	1.000000	0.71638	1.000000	0.68203	1.000000	0.97212	0.0:0.0:0.8511:0.1489	14.318	0.66020	540	0.73006	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08333	1526.87	42	chr14	64158708	.	G	A	1526.87	.	AC=3;AF=0.083;AN=36;BaseQRankSum=-4.476;DP=1445;ExcessHet=2.9153;FS=183.125;InbreedingCoeff=-0.2443;MLEAC=3;MLEAF=0.083;MQ=60;MQRankSum=0;QD=1.92;ReadPosRankSum=0.927;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:93,30:126:99:.:.:616,0,2681:.	15	0	3	1
chr14	64793547	64793547	G	A	exonic	SPTB	.	nonsynonymous SNV	SPTB:NM_001024858:exon13:c.C2116T:p.R706C,SPTB:NM_001355436:exon14:c.C2116T:p.R706C,SPTB:NM_001355437:exon14:c.C2116T:p.R706C	Anemia, neonatal hemolytic, fatal and near-fatal (3);Elliptocytosis-3 (3);Spherocytosis, type 2, Autosomal dominant	0	1521	1	0	0	1	0.000328623	.	.	.	336572	not_provided|Inborn_genetic_diseases|Elliptocytosis|Spherocytosis,_Dominant	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|Human_Phenotype_Ontology:HP:0004445,Human_Phenotype_Ontology:HP:0004837,MedGen:C0427480|MedGen:CN239455	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.196	0.0251433106747	0.0002	0.000399361	4.956e-05	0.0002	0.0002	0	0	3.006e-05	0	0	5.17e-05	8	154602	rs184962510	7.046e-05	7.046e-05	7.215e-05	6.875e-05	0.0004	5.913e-05	5.522e-05	0.0003	0.0002	0.0004	0.0003	0	2.519e-05	0	0.0003	5.306e-05	0.0001	5.797e-05	0.0001	0.0001	0.0002	0.0001	0.0004	9.146e-05	7.702e-05	0.0002	0.0001	0.0003	0	0.0004	0	0	0	0.0034	2.94e-05	0	0	0.003	0.68238	D	0.01	0.65728	D	0.921	0.51088	P	0.717	0.54739	P	0.111829	0.19383	N	0.550007	1	0.08975	N	1.625	0.41611	L	0.69	0.51714	T	-3.48	0.67941	D	0.374	0.41557	-0.9327	0.43740	T	0.137	0.45356	T	10	0.061317533	0.07668	T	0.025143	0.48119	D	0.196	0.47777	.	.	0.449242652821	0.44546	0.21736137450127166	0.21652	0.716288316527	0.61984	0.26318320632	0.05275	T	0.491056	0.81559	T	-0.297867	0.08862	T	-0.349486	0.39265	T	0.118402235913381	0.14273	T	0.865513	0.56452	D	0.19669063	0.41507	0.1626917	0.37779	0.19669063	0.41507	0.1626917	0.37778	-4.945	0.36775	T	0.3678586665343047	0.46368	0.099	0.19760	B	.;.;.;.;.	.;.;.;.;.	4.384594	0.67615	25.1	0.99900586090006838	0.97275	0.20108	0.20918	N	AEFGBI	0.535585	0.55415	D	0.107569261923633	0.46816	2.916225	0.0195697727500743	0.40625	2.427421	0.99794366224162	0.36224	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	4.69	4.69	0.58546	2.825000	0.47797	8.713000	0.78141	0.676000	0.76740	0.065000	0.21925	1.000000	0.68203	0.324000	0.25064	0.0:0.167:0.833:0.0	12.649	0.56113	467	0.78285	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2186.33	43	chr14	64793547	.	G	A	2186.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.8;DP=933;ExcessHet=0;FS=0.494;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.26;ReadPosRankSum=0.668;SOR=0.758	GT:AD:DP:GQ:PL	0/1:148,88:236:99:2200,0,3757	18	0	1	0
chr14	70738300	70738300	G	A	exonic	MAP3K9	.	nonsynonymous SNV	MAP3K9:NM_001284232:exon7:c.C1015T:p.R339W,MAP3K9:NM_001284230:exon8:c.C1789T:p.R597W,MAP3K9:NM_001284231:exon8:c.C1144T:p.R382W,MAP3K9:NM_033141:exon8:c.C1789T:p.R597W	.	404	1117	1	0	0	1	0.000447427	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.0413931744124	0.0002	0.000399361	0.0005	0	0.0002	0	0	0.0004	0	0.0018	0.0003816	59	154602	rs142599599	0.0004	0.0004	0.0003	0.0004	0.0031	0.0003	0.0003	0.0020	0.0017	2.987e-05	0.0001	0	7.564e-05	0	0.0031	0.0003	0.0005	0.0020	0.0002	0.0002	0.0002	0.0001	0.0010	0.0001	9.698e-05	0.0004	0.0003	7.221e-05	0	0.0003	0	0	0	0	0.0002	0	0.0010	0.055	0.51248	T	0.014	0.62352	D	1.0	0.90584	D	0.996	0.84481	D	0.000000	0.84330	D	0.000000	0.999995	0.81001	D	1.965	0.53209	M	2.56	0.13673	T	-4.66	0.81030	D	0.739	0.90025	-1.1943	0.00197	T	0.089	0.34160	T	10	0.16843945	0.31395	T	0.041393	0.59904	D	0.261	0.57352	.	.	0.683016084099	0.68031	0.3876492769807547	0.38679	1.01292625865	0.74835	0.838591396809	0.87880	D	0.111438	0.81659	T	-0.154337	0.27635	T	-0.0134849	0.69457	D	0.170555304305258	0.18617	T	0.990201	0.96964	D	0.31134605	0.53902	0.33000213	0.58874	0.31134605	0.53902	0.33000213	0.58873	-8.024	0.62660	D	.	.	0.286	0.51840	B	.;.;.;.;.;.	.;.;.;.;.;.	5.300305	0.88984	29.8	0.99924663780018896	0.98980	0.99209	0.92840	D	AEFDBI	0.782750	0.71394	D	0.58049421409815	0.71958	5.730784	0.582470740974034	0.73683	6.010882	0.999999933218783	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.564101	0.26826	0	.	.	5.97	5.97	0.96935	5.266000	0.65339	9.930000	0.82573	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.310000	0.24737	0.0:0.0:1.0:0.0	20.428	0.99077	819	0.41190	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.001359	0.005848	0.000000	0.017241	0.000000	0.000000	0.02632	1844.33	34	chr14	70738300	.	G	A	1844.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.14;DP=842;ExcessHet=0;FS=2.694;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=0.038;SOR=0.507	GT:AD:DP:GQ:PL	0/1:85,84:169:99:1858,0,1794	18	0	1	0
chr14	73922107	73922107	G	A	exonic	ZNF410	.	nonsynonymous SNV	ZNF410:NM_001242927:exon9:c.G952A:p.V318I,ZNF410:NM_001242928:exon10:c.G583A:p.V195I,ZNF410:NM_021188:exon10:c.G1171A:p.V391I,ZNF410:NM_001242924:exon11:c.G1222A:p.V408I	.	437	1073	12	0	0	12	0.0055607	.	.	.	2372504	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.067	0.00624117687877	7.7e-05	0.000399361	0.0002	0	0	0	0	0.0001	0	0.0011	0.0001876	29	154602	rs372664039	0.0002	0.0002	0.0002	0.0002	0.0035	0.0002	0.0002	0.0023	0.0019	0	0.0001	0	0	0	0.0035	0.0001	0.0004	0.0014	0.0002	0.0002	0.0002	0.0001	0.0008	0.0001	0.0001	0.0003	0.0002	2.406e-05	0	0.0005	0	0	0	0	0.0002	0.0009	0.0008	0.118	0.91255	T	0.306	0.92824	T	0.643	0.40492	P	0.785	0.57495	P	0.001442	0.38980	N	0.000000	0.546559	0.81001	D	1.01	0.25309	L	3.02	0.09356	T	-0.4	0.25118	N	0.538	0.56576	-1.0215	0.23227	T	0.040	0.17063	T	10	0.03307873	0.01474	T	0.006241	0.16376	T	0.136	0.36778	.	.	0.15499578495	0.15088	0.142841941602386	0.14207	0.800589739096	0.66227	0.560118496418	0.47284	T	0.026612	0.19659	T	-0.407052	0.02080	T	-0.40303	0.33033	T	0.088879943355341	0.11084	T	0.89921	0.67274	D	0.055328384	0.10739	0.0646716	0.12995	0.055328384	0.10738	0.0646716	0.12995	-4.042	0.26185	T	.	.	0.096	0.16451	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	3.136392	0.42404	21.5	0.952429301120164	0.26489	0.89806	0.50512	D	AEFBI	0.495532	0.53086	N	0.436454677190312	0.63439	4.577605	0.514922159546573	0.68994	5.297341	0.999996727823021	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.3	5.3	0.74745	4.579000	0.60647	10.022000	0.83139	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.901	0.85982	359	0.84979	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1064.33	36	chr14	73922107	.	G	A	1064.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.532;DP=699;ExcessHet=0;FS=4.117;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.67;ReadPosRankSum=0.646;SOR=0.464	GT:AD:DP:GQ:PL	0/1:39,45:84:99:1078,0,1069	18	0	1	0
chr14	74300166	74300166	C	G	exonic	ABCD4	.	nonsynonymous SNV	ABCD4:NM_001353591:exon2:c.G141C:p.L47F,ABCD4:NM_001353592:exon2:c.G141C:p.L47F,ABCD4:NM_005050:exon2:c.G141C:p.L47F,ABCD4:NM_020325:exon2:c.G141C:p.L47F	Methylmalonic aciduria and homocystinuria, cblJ type, Autosomal recessive	1	1496	25	0	0	25	0.00828638	.	.	.	360112	not_specified|Inborn_genetic_diseases|Methylmalonic_acidemia_with_homocystinuria,_type_cblJ	MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013925,MedGen:C3553915,OMIM:614857,Orphanet:369955	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.635	0.14285732486	0.0005	0.000998403	0.0006	9.641e-05	0.0002	0	0.0002	0.0008	0.0011	0.0012	0.0006209	96	154602	rs147446660	0.0005	0.0005	0.0004	0.0006	0.0086	0.0004	0.0004	0.0067	0.0060	0.0001	0.0002	0.0011	0	5.63e-05	0.0086	0.0003	0.0009	0.0021	0.0005	0.0005	0.0006	0.0004	0.0036	0.0004	0.0004	0.0023	0.0019	2.434e-05	0	0.0005	0.0009	0	0	0	0.0006	0.0024	0.0036	0.006	0.63226	D	0.008	0.67890	D	0.998	0.73220	D	0.981	0.75168	D	0.001193	0.39899	N	0.158012	0.997388	0.81001	D	1.73	0.44655	L	-3.64	0.95145	D	-3.0	0.67359	D	0.494	0.53445	0.570	0.91502	D	0.823	0.94044	D	10	0.035323203	0.01776	T	0.142857	0.82522	D	0.635	0.86027	0.66	0.79791	0.995713155787	0.99566	0.5605388446041493	0.55980	0.9082949663	0.70941	0.489047825336	0.37306	T	0.425643	0.93589	T	-0.103828	0.35792	T	0.0708179	0.74965	D	0.0762226017790259	0.09497	T	0.928807	0.73996	D	0.13454422	0.31257	0.12691249	0.30558	0.13454422	0.31257	0.12691249	0.30558	-4.619	0.32410	T	.	.	0.224	0.54116	B	.;.	.;.	3.304116	0.45370	22.1	0.99840903234902278	0.92143	0.11387	0.16600	N	AEFDBI	0.146883	0.27044	N	0.156077679935425	0.49100	3.114218	0.0409763992360276	0.41638	2.504903	0.992237264324619	0.32767	0.744818	0.98587	0	0.732433	0.95613	0	0.643519	0.47002	0	0.635259	0.50027	0	.	.	5.29	1.93	0.24985	-0.017000	0.12529	0.268000	0.16624	0.596000	0.33519	0.003000	0.16062	0.983000	0.30585	0.981000	0.58702	0.2631:0.4709:0.1867:0.0792	4.103	0.09493	445	0.79730	ABC transporter type 1, transmembrane domain|ABC transporter type 1, transmembrane domain;ABC transporter type 1, transmembrane domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006566	0.000000	0.002717	0.008772	0.000000	0.008621	0.012422	0.011364	0.02632	643.33	36	chr14	74300166	.	C	G	643.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.71;DP=730;ExcessHet=0;FS=0.997;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.09;ReadPosRankSum=0.56;SOR=0.551	GT:AD:DP:GQ:PL	0/1:28,30:58:99:657,0,653	18	0	1	0
chr14	74858480	74858480	T	G	exonic	PROX2	.	nonsynonymous SNV	PROX2:NM_001243007:exon4:c.A1340C:p.K447T,PROX2:NM_001384314:exon5:c.A1340C:p.K447T	.	8	1503	11	0	0	11	0.00364601	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.655	0.0326759135246	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1458233090	9.083e-06	8.893e-06	6.92e-06	1.129e-05	2.452e-05	5.07e-06	3.91e-06	4.62e-06	3.37e-06	0	0	0	0	0	0	9.13e-06	1.685e-05	2.452e-05	1.971e-05	1.97e-05	1.284e-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	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000004	0.62929	D	0.103999	1	0.81001	D	.	.	.	0.38	0.57575	T	-5.5	0.85844	D	0.903	0.90363	-0.1392	0.79185	T	0.385	0.74047	T	10	0.8325588	0.82417	D	0.032676	0.54438	D	0.655	0.87035	0.357	0.35897	0.727978508315	0.72556	0.8226170539995037	0.82218	.	.	0.767907381058	0.77112	T	0.383096	0.74503	T	0.21867	0.75650	D	0.191283	0.82642	D	0.97449141740799	0.70532	D	0.994508	0.98160	D	.	.	.	.	.	.	.	.	.	.	.	.	.	0.862	0.80432	P	.	.	4.671667	0.74675	26.2	0.99775609016454281	0.86260	0.98626	0.84855	D	AEFI	0.912740	0.87377	D	0.826236022616293	0.87716	9.31559	0.774778682448774	0.87990	9.417491	0.999999999999278	0.74766	0.615465	0.37627	0	0.633656	0.55848	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.3	5.3	0.74745	8.017000	0.88732	7.940000	0.75441	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.0:1.0	15.263	0.73340	721	0.55360	Homeo-prospero domain|Homeo-prospero 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	.	.	.	.	.	.	.	.	0.02632	1091.33	33	chr14	74858480	.	T	G	1091.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.676;DP=741;ExcessHet=0;FS=0.663;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.73;ReadPosRankSum=0.816;SOR=0.62	GT:AD:DP:GQ:PL	0/1:70,55:125:99:1105,0,1628	18	0	1	0
chr14	80914338	80914338	G	A	exonic	CEP128	.	nonsynonymous SNV	CEP128:NM_152446:exon4:c.C218T:p.A73V	.	425	1091	6	0	0	6	0.00274223	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.167	.	0.0002	0.0147764	0.0064	0.0003	8.639e-05	0.0861	0	4.496e-05	0.0011	0.0013	0.0059167	154	26028	rs116769859	0.0024	0.0024	0.0024	0.0024	0.0753	0.0023	0.0023	0.0730	0.0721	0.0001	8.948e-05	0	0.0753	0	0.0003	4.68e-05	0.0049	0.0015	0.0028	0.0028	0.0025	0.0031	0.0724	0.0026	0.0025	0.0663	0.0639	0.0003	0	0.0010	0	0.0724	0	0	7.357e-05	0.0028	0.0023	0.253	0.21385	T	0.839	0.35840	T	0.987	0.67487	D	0.511	0.51677	P	0.001448	0.38980	N	0.164905	0.642855	0.32892	D	2.095	0.58118	M	1.49	0.45636	T	-1.37	0.74051	N	0.518	0.54845	-1.1257	0.01999	T	0.005	0.01833	T	10	0.0017378628	0.00022	T	.	.	.	0.167	0.42761	.	.	0.481246930725	0.47757	0.30553347982225343	0.30466	0.270010930718	0.29521	0.387776076794	0.23356	T	0.018784	0.19745	T	-0.386678	0.02826	T	-0.263982	0.48426	T	0.0160130281826876	0.00382	T	0.844016	0.53499	T	0.1275285	0.29840	0.12514852	0.30158	0.1275285	0.29839	0.12514852	0.30157	-6.63	0.54861	T	.	.	0.136	0.35643	B	.;.;.;.;.;.	.;.;.;.;.;.	6.567606	0.95415	35	0.99835602125602085	0.91714	0.94943	0.62871	D	AEFBI	0.622607	0.60687	D	0.202500772861817	0.51319	3.314201	0.321120566769074	0.56782	3.842172	0.99088673739326	0.32301	0.660377	0.49826	0	0.588015	0.36545	0	0.658983	0.55881	0	0.592323	0.36904	0	.	.	5.15	5.15	0.70287	5.989000	0.70262	11.718000	0.94767	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.954000	0.50415	0.0:0.0:1.0:0.0	15.903	0.79182	840	0.37365	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.009146	0.003788	0.02632	1311.33	41	chr14	80914338	.	G	A	1311.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.549;DP=773;ExcessHet=0;FS=3.889;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.8;ReadPosRankSum=1.86;SOR=0.453	GT:AD:DP:GQ:PL	0/1:87,62:149:99:1325,0,1937	18	0	1	0
chr14	87934749	87934749	C	T	exonic	GALC	.	nonsynonymous SNV	GALC:NM_001201401:exon16:c.G1972A:p.V658M,GALC:NM_000153:exon17:c.G2041A:p.V681M,GALC:NM_001201402:exon17:c.G1963A:p.V655M	Krabbe disease, Autosomal recessive	1	1518	3	0	0	3	0.000987167	.	.	YES	204567	Inborn_genetic_diseases|not_provided|Galactosylceramide_beta-galactosidase_deficiency|not_specified	MeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,Orphanet:487|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.714	0.305239335284	.	0.000199681	0.0002	0	0.0002	0.0008	0	3.003e-05	0	0.0006	0.0001358	21	154602	rs200607029	7.529e-05	7.524e-05	7.083e-05	7.98e-05	0.0007	6.385e-05	5.942e-05	0.0006	0.0005	0	0	7.667e-05	0.0004	0	0	1.979e-05	0.0002	0.0007	7.229e-05	7.219e-05	5.144e-05	9.408e-05	0.0008	3.972e-05	3.128e-05	0.0003	0.0002	0	0	0	0	0.0004	0	0	5.884e-05	0.0005	0.0008	0.002	0.72154	D	0.004	0.76473	D	0.998	0.73220	D	0.976	0.73562	D	0.000654	0.42656	D	0.218759	0.931983	0.81001	D	2.945	0.84822	M	-3.56	0.94869	D	-1.88	0.43906	N	0.79	0.78641	1.005	0.97279	D	0.898	0.96615	D	10	0.63925993	0.68961	D	0.305239	0.91012	D	0.714	0.89831	0.636	0.77251	0.955291583424	0.95482	0.879927747788902	0.87960	0.58156249449	0.53951	0.380543738604	0.22333	T	0.843247	0.96363	D	0.174935	0.71576	D	0.417908	0.92677	D	0.189370686986006	0.19807	T	0.908709	0.67605	D	0.1294474	0.30233	0.17459469	0.39867	0.123469144	0.28990	0.19273944	0.42803	-6.612	0.53358	T	0.4220926189515186	0.51071	0.251	0.54933	B	.;.;.	.;.;.	4.145771	0.62150	24.4	0.9987529649400313	0.95244	0.65539	0.32771	D	AEFI	0.089598	0.18161	N	0.647091159752438	0.76180	6.439229	0.572622235894489	0.72983	5.896808	0.755474310927353	0.23426	0.706298	0.61202	0	0.633656	0.55848	0	0.659464	0.59346	0	0.613276	0.41899	0	.	.	5.6	4.69	0.58546	1.532000	0.35634	2.058000	0.30379	0.599000	0.40250	0.825000	0.30060	0.965000	0.29475	0.451000	0.27917	0.0:0.8488:0.0:0.1512	10.701	0.45123	904	0.23766	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1028.33	34	chr14	87934749	.	C	T	1028.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.49;DP=716;ExcessHet=0;FS=3.762;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.98;ReadPosRankSum=-0.05;SOR=1.083	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1042,0,1441	18	0	1	0
chr14	91278128	91278128	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon29:c.C4852T:p.R1618W	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	1	1511	10	0	0	10	0.00329815	.	.	.	725854	not_provided|Inborn_genetic_diseases|CCDC88C-related_disorder	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.061	0.0134613910287	.	0.000199681	0.0011	0.0002	0.0002	0	0	0.0002	0	0.0069	0.0008085	125	154602	rs573820836	0.0007	0.0007	0.0005	0.0009	0.0071	0.0007	0.0007	0.0066	0.0064	2.988e-05	6.717e-05	0	0.0001	3.762e-05	0.0030	0.0003	0.0007	0.0071	0.0004	0.0004	0.0003	0.0005	0.0066	0.0003	0.0003	0.0048	0.0042	9.62e-05	0	0	0	0	0	0	0.0003	0.0005	0.0066	0.003	0.68238	D	0.041	0.53788	D	0.009	0.15093	B	0.001	0.04355	B	0.021162	0.26887	U	0.178377	0.992863	0.23812	N	2.36	0.67893	M	0.7	0.51474	T	-2.96	0.61722	D	0.365	0.40665	-0.9759	0.35926	T	0.099	0.36856	T	10	0.003807038	0.00071	T	0.013461	0.32880	T	0.061	0.17616	0.327	0.31034	0.549290840505	0.54585	0.3476530149903494	0.34679	0.135941461379	0.15331	0.41852670908	0.27634	T	0.146126	0.48583	T	-0.49284	0.00627	T	-0.477678	0.24694	T	0.0261608245400736	0.01428	T	0.793221	0.43505	T	0.048088975	0.08327	0.046315424	0.06427	0.045137677	0.07335	0.050512742	0.07942	-6.16	0.47598	T	.	.	0.091	0.17657	B	.;.	.;.	1.193358	0.15847	12.15	0.96581142752854221	0.30333	0.81608	0.40978	D	AEFDBI	0.262278	0.38005	N	-0.576846034268236	0.19649	1.030053	-0.498669417426254	0.22191	1.204078	0.999999968003431	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	4.94	4.05	0.46415	0.392000	0.20527	0.775000	0.21430	-0.968000	0.01952	0.435000	0.26448	0.000000	0.08366	0.008000	0.08271	0.0781:0.0:0.6365:0.2854	7.383	0.26039	917	0.20147	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002523	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.007576	0.02632	1843.33	33	chr14	91278128	.	G	A	1843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.626;DP=783;ExcessHet=0;FS=2.224;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.86;ReadPosRankSum=-1.003;SOR=0.955	GT:AD:DP:GQ:PL	0/1:58,75:133:99:1857,0,1286	18	0	1	0
chr14	91325981	91325981	G	A	exonic	CCDC88C	.	nonsynonymous SNV	CCDC88C:NM_001080414:exon11:c.C1126T:p.R376W	Hydrocephalus, nonsyndromic, autosomal recessive, Autosomal recessive	0	1516	6	0	0	6	0.00197498	.	.	.	429607	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.367	0.121908679267	.	.	0.0001	0	0	0	0	0.0003	0	0	5.17e-05	8	154602	rs754564295	4.798e-05	5.199e-05	4.965e-05	4.627e-05	0.0003	3.856e-05	3.533e-05	6.117e-05	3.783e-05	3.024e-05	0	0	2.577e-05	1.925e-05	0.0003	5.274e-05	8.393e-05	1.207e-05	3.288e-05	3.284e-05	2.571e-05	4.039e-05	7.349e-05	1.262e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.349e-05	0	0	0.0	0.91255	D	0.001	0.83351	D	0.978	0.58756	D	0.88	0.62516	P	0.000627	0.42799	U	0.000000	1	0.81001	D	2.405	0.69568	M	0.33	0.58323	T	-6.67	0.92346	D	0.75	0.74918	-0.0723	0.80727	T	0.389	0.74357	T	10	0.8677491	0.86026	D	0.121909	0.80277	D	0.367	0.68670	0.663	0.80098	0.761946902992	0.75977	0.5549353555968913	0.55420	0.613478281511	0.55912	0.729620575905	0.71451	T	0.146395	0.48398	T	0.0435939	0.57515	T	0.019814	0.71619	D	0.949446082115173	0.63115	D	0.955104	0.82903	D	0.3829317	0.59528	0.39816186	0.64412	0.3829317	0.59528	0.39816186	0.64412	-11.598	0.82838	D	.	.	0.739	0.74599	P	.	.	4.999442	0.82944	27.9	0.99898690207399499	0.97124	0.93411	0.58145	D	AEFDBHCIJ	0.751892	0.69256	D	0.621944292851058	0.74564	6.154215	0.507410391796775	0.68489	5.226947	0.999999999942949	0.74766	0.732398	0.92422	0	0.702456	0.74545	0	0.743671	0.96076	0	0.662433	0.64102	0	.	.	5.22	3.18	0.35615	6.275000	0.72616	6.473000	0.55719	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.011000	0.09372	0.0:0.0:0.7479:0.2521	13.939	0.63554	775	0.48401	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	5268.83	36	chr14	91325981	.	G	A	5268.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.12;DP=1071;ExcessHet=0.119;FS=2.45;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.52;SOR=0.506	GT:AD:DP:GQ:PL	0/1:110,102:212:99:2699,0,2603	17	0	2	0
chr14	92071010	92071010	-	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	exonic	ATXN3	.	frameshift insertion	ATXN3:NM_001164782:exon2:c.67_68insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G23Afs*74,ATXN3:NM_001164774:exon3:c.232_233insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G78Afs*74,ATXN3:NM_001164777:exon3:c.112_113insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G38Afs*74,ATXN3:NM_001164776:exon4:c.277_278insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G93Afs*74,ATXN3:NM_001164778:exon6:c.430_431insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G144Afs*74,ATXN3:NM_001164779:exon6:c.552_553insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G185Qfs*42,ATXN3:NM_001164780:exon7:c.378_379insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G127Qfs*42,ATXN3:NM_001127697:exon8:c.762_763insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G255Qfs*42,ATXN3:NM_001164781:exon8:c.705_706insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G236Qfs*42,ATXN3:NM_001127696:exon9:c.870_871insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G291Qfs*42,ATXN3:NM_030660:exon9:c.750_751insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G251Qfs*42,ATXN3:NM_004993:exon10:c.915_916insCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA:p.G306Qfs*42	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	37577.2	48	chr14	92071010	.	C	CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	37577.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.1;DP=1581;ExcessHet=0.7564;FS=1.2;InbreedingCoeff=-0.1176;MLEAC=2;MLEAF=0.053;MQ=59.44;MQRankSum=0.302;QD=28.75;ReadPosRankSum=-0.366;SOR=0.927	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,10:18:99:.:.:2524,479,312:.	17	0	2	0
chr14	94497802	94497802	C	T	exonic	SERPINA12	.	nonsynonymous SNV	SERPINA12:NM_001304461:exon2:c.G596A:p.G199D,SERPINA12:NM_001382267:exon2:c.G596A:p.G199D,SERPINA12:NM_173850:exon3:c.G596A:p.G199D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0188046605053	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1455963195	6.871e-07	2.052e-06	0	1.382e-06	2.524e-05	0	0	.	.	0	0	0	2.524e-05	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.463	0.08660	T	0.657	0.06576	T	0.011	0.15914	B	0.017	0.18140	B	0.251813	0.15493	N	0.613802	1	0.08975	N	0.66	0.16226	N	-2.05	0.85799	D	-1.46	0.35792	N	0.148	0.15046	-0.8956	0.48427	T	0.266	0.63727	T	10	0.040331542	0.02593	T	0.018805	0.40992	T	0.133	0.36157	0.432	0.48171	0.216624796971	0.21254	0.6112549893490689	0.61057	0.100516046514	0.11355	0.37503361702	0.21551	T	0.03395	0.23124	T	-0.223248	0.17552	T	-0.389328	0.34630	T	0.0576949219063508	0.06800	T	0.584142	0.21248	T	0.26295173	0.49358	0.10561278	0.25391	0.26295173	0.49358	0.10561278	0.25390	-1.722	0.02287	T	.	.	0.224	0.49509	B	.;.	.;.	2.009921	0.25536	16.80	0.080949235166052638	0.00057	0.07238	0.13262	N	AEFCI	0.065923	0.12884	N	-0.924847551878464	0.10263	0.4896058	-0.843139383567271	0.13453	0.6979405	0.0132140536699464	0.12433	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.49	2.69	0.30923	-0.172000	0.09858	0.548000	0.19395	0.599000	0.40250	0.000000	0.06391	0.008000	0.19753	0.813000	0.38311	0.1769:0.4335:0.0:0.3895	3.621	0.07640	793	0.45818	Serpin domain|Serpin domain;Serpin domain|Serpin domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4722	10250.8	91	chr14	94497802	.	C	T	10250.8	.	AC=17;AF=0.472;AN=36;BaseQRankSum=-1.403;DP=2518;ExcessHet=31.086;FS=244.116;InbreedingCoeff=-0.8537;MLEAC=18;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.62;ReadPosRankSum=0.296;SOR=13.49	GT:AD:DP:GQ:PL	0/1:78,41:119:99:322,0,1496	1	0	17	1
chr14	96328709	96328709	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1939G:p.L647V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.190	0.0210505278955	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.126	0.35205	T	0.997	0.70673	D	0.991	0.79672	D	0.000024	0.55875	U	0.000000	0.99996	0.52935	D	1.84	0.48285	L	2.88	0.10291	T	-1.24	0.31375	N	0.642	0.65416	-1.1675	0.00589	T	0.084	0.32814	T	10	0.61223567	0.67508	D	0.021051	0.43757	T	0.190	0.46781	0.198	0.11110	0.586816528483	0.58355	0.3201478662071291	0.31927	0.652725768522	0.58449	0.597697973251	0.52579	T	0.005137	0.04581	T	-0.0899762	0.38080	T	-0.367021	0.37237	T	0.884093582630157	0.53431	D	0.913309	0.69109	D	0.17750946	0.38721	0.15349935	0.36067	0.17750946	0.38720	0.15349935	0.36066	-4.522	0.31175	T	.	.	0.095	0.14888	B	.	.	5.100309	0.85214	28.5	0.99806771792025484	0.89085	0.98731	0.86131	D	AEFBI	0.733095	0.67964	D	0.75656352154125	0.83333	7.989826	0.766028455875063	0.87348	9.19159	0.999996270545633	0.74766	0.651	0.46895	0	0.601575	0.49859	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	7.339000	0.78520	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:1.0:0.0	20.147	0.98079	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1429	295.95	35	chr14	96328709	.	G	C	295.95	.	AC=4;AF=0.143;AN=28;BaseQRankSum=-1.009;DP=859;ExcessHet=0.7564;FS=144.371;InbreedingCoeff=-0.2105;MLEAC=5;MLEAF=0.179;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.291;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:26,11:37:55:0|1:96328709_G_C:55,0,751:96328709	10	0	4	5
chr14	96328715	96328715	G	C	exonic	ATG2B	.	nonsynonymous SNV	ATG2B:NM_018036:exon13:c.C1933G:p.L645V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.0109553308418	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.86e-07	1.71e-05	1.365e-06	0	9.013e-07	0	0	.	.	0	0	0	0	0	0	9.013e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.126	0.27194	T	0.157	0.31730	T	0.802	0.45105	P	0.184	0.35999	B	0.000461	0.44317	U	0.093440	0.99902	0.45899	D	1.355	0.33814	L	2.78	0.11298	T	-0.8	0.22078	N	0.43	0.46928	-1.0376	0.18048	T	0.027	0.11529	T	10	0.27002215	0.44531	T	0.010955	0.28062	T	0.089	0.25827	0.241	0.17371	0.481321013822	0.47762	0.285937600743724	0.28506	0.652725768522	0.58449	0.546917438507	0.45422	T	0.001307	0.00783	T	-0.0890419	0.38234	T	-0.365679	0.37394	T	0.912488400936127	0.56841	D	0.844016	0.52137	T	0.1511111	0.34369	0.108453274	0.26125	0.1511111	0.34368	0.108453274	0.26125	-4.536	0.31356	T	.	.	0.093	0.14108	B	.	.	3.546023	0.49826	22.8	0.99518916642557653	0.69100	0.97778	0.77065	D	AEFBI	0.585571	0.58394	D	0.354162227763407	0.58958	4.071638	0.464947464439595	0.65682	4.854823	0.999992539104278	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.683762	0.67416	0	.	.	5.84	5.84	0.93373	5.885000	0.69480	11.847000	0.97966	0.614000	0.49286	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:0.857:0.143	14.927	0.70531	966	0.07191	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.08824	201.76	34	chr14	96328715	.	G	C	201.76	.	AC=3;AF=0.088;AN=34;BaseQRankSum=-2.308;DP=809;ExcessHet=0.3672;FS=161.501;InbreedingCoeff=-0.1149;MLEAC=3;MLEAF=0.088;MQ=60;MQRankSum=0;QD=1.52;ReadPosRankSum=0.208;SOR=8.155	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:25,11:36:58:0|1:96328709_G_C:58,0,729:96328709	14	0	3	2
chr14	99257616	99257616	G	T	exonic	BCL11B	.	nonsynonymous SNV	BCL11B:NM_001282237:exon2:c.C279A:p.D93E,BCL11B:NM_001282238:exon2:c.C279A:p.D93E,BCL11B:NM_022898:exon2:c.C282A:p.D94E,BCL11B:NM_138576:exon2:c.C282A:p.D94E	.	.	.	.	.	.	.	.	.	.	.	1897976	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.050	0.0039326788737	.	0.000798722	0.0006	0	8.642e-05	0	0	0	0	0.0041	0.0004657	72	154602	rs570461424	0.0003	0.0003	0.0001	0.0004	0.0044	0.0002	0.0002	0.0040	0.0039	0	0	0	0	0	0	8.994e-07	0.0001	0.0044	0.0001	0.0001	7.71e-05	0.0002	0.0041	8.662e-05	7.254e-05	0.0027	0.0023	0	0	0	0	0	0	0	0	0	0.0041	0.127	0.28520	T	0.543	0.11041	T	0.429	0.35556	B	0.05	0.25434	B	0.013315	0.28882	N	0.201473	0.968714	0.81001	D	1.355	0.33814	L	2.51	0.14284	T	-2.18	0.50175	N	0.251	0.39861	-1.0296	0.20583	T	0.023	0.09604	T	10	0.0068876147	0.00156	T	0.003933	0.09274	T	0.050	0.13987	0.269	0.21735	0.595711969413	0.59250	0.17752907044718652	0.17671	0.464731469048	0.45933	0.589256823063	0.51388	T	0.328872	0.69924	T	-0.482191	0.00718	T	-0.465144	0.26041	T	0.0548658057249467	0.06334	T	0.773323	0.40460	T	0.09210878	0.21599	0.12500615	0.30124	0.09210878	0.21599	0.12500615	0.30123	-8.719	0.65870	D	.	.	0.104	0.31482	B	.;.	.;.	1.937470	0.24609	16.46	0.99686050461114495	0.79574	0.85910	0.45099	D	AEFDBI	0.261685	0.37958	N	-0.0985237318334828	0.37457	2.179474	0.0342071318585576	0.41316	2.480085	0.999940312670506	0.47345	0.516011	0.20929	0	0.610034	0.51514	0	0.527494	0.11647	0	0.542086	0.14980	0	.	.	5.89	3.6	0.40374	2.485000	0.44909	2.326000	0.32165	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.990000	0.65344	0.4671:0.0:0.5329:0.0	4.796	0.12641	978	0.04198	.;.	.	.	.	.	.	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	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1860.33	34	chr14	99257616	.	G	T	1860.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.028;DP=760;ExcessHet=0;FS=3.203;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.53;ReadPosRankSum=-0.543;SOR=0.716	GT:AD:DP:GQ:PL	0/1:59,69:128:99:1874,0,1583	18	0	1	0
chr14	103975449	103975449	G	C	exonic	TDRD9	.	nonsynonymous SNV	TDRD9:NM_153046:exon7:c.G907C:p.V303L	.	434	1084	4	0	0	4	0.00184162	.	.	.	3214000	TDRD9-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.016	.	0.0008	0.00119808	0.0016	9.752e-05	0.0003	0	0.0120	0.0014	0.0022	0.0006	0.0014489	224	154602	rs147103471	0.0017	0.0017	0.0018	0.0017	0.0015	0.0017	0.0017	0.0015	0.0014	0.0004	0.0004	3.827e-05	0	0.0121	0.0014	0.0015	0.0017	0.0007	0.0021	0.0021	0.0015	0.0028	0.0014	0.0019	0.0018	0.0012	0.0011	0.0003	0	0.0007	0	0	0.0180	0	0.0014	0.0019	0.0012	0.024	0.47745	D	0.155	0.31936	T	0.073	0.24078	B	0.028	0.21332	B	0.066165	0.21829	N	0.376575	0.967095	0.38572	D	1.935	0.51832	L	3.89	0.03544	T	-1.53	0.37178	N	0.216	0.24135	-0.8317	0.53191	T	0.014	0.05753	T	10	0.0051170588	0.00111	T	.	.	.	0.023	0.04649	.	.	0.170165803431	0.16609	0.42724342476483135	0.42641	0.208088668149	0.23278	0.440129667521	0.30595	T	0.040974	0.25705	T	-0.544513	0.00315	T	-0.579559	0.14584	T	0.0193841248249143	0.00643	T	0.808619	0.45852	T	0.08166041	0.18774	0.09528713	0.22592	0.07936636	0.18127	0.096928425	0.23049	-5.887	0.45324	T	.	.	0.156	0.34602	B	.;.	.;.	1.875979	0.23830	16.17	0.98940409021674436	0.48921	0.58818	0.30745	D	AEFDI	0.318443	0.42214	N	-0.440942208071658	0.24048	1.295763	-0.413525267455948	0.24600	1.347979	0.0966612576169368	0.16259	0.487112	0.14033	0	0.59043	0.45803	0	0.573888	0.23631	0	0.542086	0.14980	0	.	.	5.16	3.33	0.37245	0.809000	0.26827	4.417000	0.43302	-0.106000	0.15538	0.342000	0.25692	1.000000	0.68203	0.341000	0.25455	0.2171:0.0:0.7829:0.0	10.292	0.42780	465	0.78421	Helicase superfamily 1/2, ATP-binding domain|Helicase superfamily 1/2, ATP-binding domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.001008	0.000000	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	2411.83	33	chr14	103975449	.	G	C	2411.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.189;DP=799;ExcessHet=0.119;FS=1.072;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.43;ReadPosRankSum=0.841;SOR=0.601	GT:AD:DP:GQ:PL	0/1:58,47:105:99:1160,0,1442	17	0	2	0
chr15	20535305	20535305	G	A	exonic	GOLGA6L6	.	stopgain	GOLGA6L6:NM_001145004:exon8:c.C1129T:p.Q377X	.	544	975	3	0	0	3	0.0015361	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00399361	0.0141	0.0132	0	0	.	0.0190	0	0	0.0002264	35	154602	rs28665153	0.0116	0.0086	0.0119	0.0114	0.0276	0.0114	0.0113	0.0260	0.0253	0.0028	0.0276	0.0098	6.092e-05	0.0105	0.0063	0.0126	0.0125	0.0076	0.0051	0.0052	0.0051	0.0052	0.0125	0.0048	0.0046	0.0106	0.0099	0.0014	0	0.0125	0.0042	0	0.0074	0	0.0059	0.0038	0.0018	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.026	0.00527	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.297858	0.82796	D	0.190076	0.82574	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.266607	0.64883	24.8	0.97797846699532709	0.36046	0.16310	0.19329	N	AEFI	0.023047	0.01233	N	-0.0666653307467699	0.38862	2.282634	-0.489650941295436	0.22437	1.21871	6.47089315873219E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	.	.	.	-0.058000	0.11707	-3.322000	0.02877	0.201000	0.17923	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	.	.	.	1000	0.00083	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	219.71	33	chr15	20535305	.	G	A	219.71	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-1.243;DP=613;ExcessHet=0;FS=0;InbreedingCoeff=-0.0411;MLEAC=1;MLEAF=0.028;MQ=33.09;MQRankSum=-0.278;QD=7.32;ReadPosRankSum=1.11;SOR=0.627	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,9:30:99:0|1:20535305_G_A:233,0,783:20535305	17	0	1	1
chr15	22081297	22081297	T	C	exonic	OR4M2	.	nonsynonymous SNV	OR4M2:NM_001004719:exon1:c.T673C:p.F225L	.	540	106	147	729	0	1605	0.883324	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.105	.	.	.	0.9050	0.7710	0.9468	0.9535	0.9317	0.9220	0.9117	0.8549	0.780262	120630	154602	rs491208	0	5.101e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	0.000844	0.41440	N	0.000000	1	0.08975	P	-2.445	0.00066	N	.	.	.	.	.	.	0.024	0.00445	-0.9717	0.36841	T	0.000	0.00011	T	9	7.2730036e-05	0.00009	T	.	.	.	.	.	0.54	0.65161	.	.	0.19599440268041618	0.19516	.	.	.	.	.	0.00272	0.02115	T	-0.672873	0.00053	T	-0.702807	0.05673	T	0.00771905005910873	0.00090	T	0.142386	0.01156	T	0.07985808	0.18268	0.08259106	0.18862	0.07985808	0.18267	0.08259106	0.18861	0.242	0.00274	T	.	.	0.245	0.47901	B	.	.	1.048175	0.14294	10.87	0.73235698812529659	0.10255	0.01725	0.05460	N	AEFGBCI	.	.	.	-1.86751014071891	0.00400	0.01720119	-1.75517952119794	0.00914	0.04088312	0.944484955208236	0.27617	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.613276	0.41899	0	.	.	2.5	0.487	0.16050	-0.893000	0.04234	-0.516000	0.08717	-0.757000	0.03535	0.000000	0.06391	0.000000	0.08366	0.008000	0.08271	0.0:0.4472:0.0:0.5528	6.210	0.19834	.	.	GPCR, rhodopsin-like, 7TM	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.865792	0.833333	0.845109	0.862573	0.900000	0.887931	0.920732	0.867424	0.9062	36371.9	254	chr15	22081297	.	T	C	36371.9	.	AC=29;AF=0.906;AN=32;BaseQRankSum=7.18;DP=2254;ExcessHet=0.0128;FS=82.112;InbreedingCoeff=0.2;MLEAC=32;MLEAF=1;MQ=39;MQRankSum=-9.429;QD=21.37;ReadPosRankSum=-0.973;SOR=4.312	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1243,114,0	0	13	3	3
chr15	22613406	22613406	A	G	exonic	GOLGA8J	.	nonsynonymous SNV	GOLGA8J:NM_001282472:exon7:c.T455C:p.M152T	.	488	1031	3	0	0	3	0.00145278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.000305791545959	.	.	.	.	.	.	.	.	.	.	.	.	.	rs776013478	0.0004	0.0003	0.0003	0.0004	0.0014	0.0003	0.0003	0.0011	0.0011	0.0001	5.918e-05	0	2.995e-05	0.0004	0.0007	0.0003	0.0005	0.0014	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0.0001	0.0001	0.0001	0.0001	0	0	0	0.0002	0.0004	0	0.0002	0.0005	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	520.33	39	chr15	22613406	.	A	G	520.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-4.303;DP=765;ExcessHet=0;FS=6.515;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.67;MQRankSum=0.121;QD=7.13;ReadPosRankSum=0.797;SOR=1.005	GT:AD:DP:GQ:PL	0/1:48,25:73:99:534,0,1257	18	0	1	0
chr15	22768275	22768275	C	0	exonic	GOLGA6L7	.	.	.	.	1270	216	4	27	5	63	0.118367	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3846	688.52	2	chr15	22768275	.	C	*	688.52	.	AC=10;AF=0.385;AN=26;DP=84;ExcessHet=0.002;FS=0;InbreedingCoeff=0.5212;MLEAC=12;MLEAF=0.462;MQ=56.28;QD=15.65;SOR=0.527	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:10:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:124,10,0:22768260	7	4	2	6
chr15	22768302	22768302	T	0	exonic	GOLGA6L7	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3571	75.48	2	chr15	22768302	.	T	*	75.48	.	AC=10;AF=0.357;AN=28;DP=68;ExcessHet=0.0004;FS=0;InbreedingCoeff=0.4151;MLEAC=13;MLEAF=0.464;MQ=52.45;MQRankSum=-0.842;QD=3.77;ReadPosRankSum=-0.524;SOR=0.551	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,3:3:10:1|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:124,10,0:22768260	8	4	2	5
chr15	22768324	22768365	CATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	-	exonic	GOLGA6L7	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0040	0.0055	0.0042	0.0037	0.0050	0.0036	0.0035	0.0044	0.0042	0.0027	0.0068	0.0035	0.0046	0.0007	0.0052	0	0.0050	0.0027	0.0022	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03571	59.72	2	chr15	22768323	.	CCATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCCCA	C	59.72	.	AC=1;AF=0.036;AN=28;BaseQRankSum=0.431;DP=49;ExcessHet=0;FS=4.771;InbreedingCoeff=-0.0054;MLEAC=2;MLEAF=0.071;MQ=56.71;MQRankSum=0.674;QD=14.93;ReadPosRankSum=-0.967;SOR=2.209	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:2,2:4:54:0|1:22768260_GCATCTGCTCCTCCTCCTCCCCCATCTGCTCCTCCTGATTCCT_G:69,0,54:22768260	13	0	1	5
chr15	22918704	22918704	T	G	exonic	CYFIP1	.	nonsynonymous SNV	CYFIP1:NM_001324125:exon11:c.A1148C:p.N383T,CYFIP1:NM_001324124:exon13:c.A1424C:p.N475T,CYFIP1:NM_001324126:exon13:c.A1412C:p.N471T,CYFIP1:NM_001324119:exon14:c.A1616C:p.N539T,CYFIP1:NM_001324120:exon14:c.A1514C:p.N505T,CYFIP1:NM_001324123:exon14:c.A1514C:p.N505T,CYFIP1:NM_014608:exon14:c.A1514C:p.N505T,CYFIP1:NM_001287810:exon15:c.A1514C:p.N505T	.	418	1103	1	0	0	1	0.000453104	.	.	.	3420032	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.177	0.00581308170436	.	.	0.0001	0	0.0013	0	0	0	0	0	9.7e-05	15	154602	rs202236334	5.794e-05	5.891e-05	5.685e-05	5.905e-05	0.0016	4.772e-05	4.389e-05	0.0008	0.0006	6.138e-05	7.372e-05	0	0	0	0.0016	5.469e-05	8.457e-05	4.897e-05	3.287e-05	3.284e-05	3.856e-05	2.692e-05	6.547e-05	1.261e-05	7.98e-06	1.972e-05	1.125e-05	0	0	6.547e-05	0	0	0	0	5.882e-05	0	0	.	.	.	0.865	0.03361	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.849	0.84505	.	.	.	.	.	.	.	0.7585194	0.76166	D	.	.	.	.	.	.	.	.	.	0.9451156385437264	0.94493	.	.	.	.	.	0.122969	0.44700	T	.	.	.	.	.	.	.	.	.	0.905509	0.66687	D	.	.	.	.	.	.	.	.	-2.857	0.08720	T	.	.	0.186	0.40164	B	.;.	.;.	3.948324	0.57820	23.9	.	.	.	.	.	.	0.935007	0.92922	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.852000	0.85247	7.928000	0.74873	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	.	.	.	929	0.16858	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	609.33	41	chr15	22918704	.	T	G	609.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=689;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.69;ReadPosRankSum=-0.248;SOR=0.646	GT:AD:DP:GQ:PL	0/1:22,26:48:99:623,0,492	18	0	1	0
chr15	23005548	23005548	C	A	exonic	TUBGCP5	.	nonsynonymous SNV	TUBGCP5:NM_001102610:exon19:c.G2596T:p.V866F,TUBGCP5:NM_001354372:exon19:c.G2599T:p.V867F,TUBGCP5:NM_001354373:exon19:c.G2596T:p.V866F,TUBGCP5:NM_001354374:exon19:c.G2554T:p.V852F,TUBGCP5:NM_001354375:exon19:c.G2596T:p.V866F,TUBGCP5:NM_001354376:exon19:c.G2596T:p.V866F,TUBGCP5:NM_001354377:exon19:c.G2599T:p.V867F,TUBGCP5:NM_001354378:exon19:c.G2599T:p.V867F,TUBGCP5:NM_052903:exon19:c.G2596T:p.V866F	.	422	1099	1	0	0	1	0.000454752	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.008	0.00393600373392	.	.	.	.	.	.	.	.	.	.	6.5e-06	1	154602	rs199994530	8.551e-05	8.551e-05	7.487e-05	9.625e-05	0.0009	7.312e-05	6.815e-05	0.0003	0.0002	0.0002	4.472e-05	0.0002	0	0	0.0009	7.914e-05	6.623e-05	0.0002	6.573e-05	6.567e-05	6.425e-05	6.727e-05	0.0001	3.518e-05	2.617e-05	5.843e-05	4.24e-05	4.828e-05	0	0	0	0	0	0	0.0001	0	0	.	.	.	0.041	0.50809	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.21580	.	.	.	.	.	.	.	0.08687106	0.14808	T	.	.	.	.	.	.	.	.	.	0.6988809629853047	0.69829	.	.	.	.	.	0.02034	0.16033	T	.	.	.	.	.	.	.	.	.	0.784022	0.42156	T	.	.	.	.	.	.	.	.	-4.405	0.29625	T	.	.	0.074	0.04889	B	.;.	.;.	-0.437033	0.02079	0.192	.	.	.	.	.	.	0.062001	0.11892	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.393000	0.07366	-0.490000	0.08866	-0.217000	0.08171	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	.	.	.	768	0.49510	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1665.33	33	chr15	23005548	.	C	A	1665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.903;DP=814;ExcessHet=0;FS=2.583;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.72;ReadPosRankSum=-0.005;SOR=0.512	GT:AD:DP:GQ:PL	0/1:117,74:191:99:1679,0,3080	18	0	1	0
chr15	23440492	23440492	C	0	exonic	GOLGA6L2	.	.	.	.	628	57	798	30	9	867	0.882716	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5	44113.5	193	chr15	23440492	.	C	*	44113.5	.	AC=19;AF=0.5;AN=38;BaseQRankSum=1.78;DP=2930;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=19;MLEAF=0.5;MQ=58;MQRankSum=-0.314;QD=15.57;ReadPosRankSum=-0.294;SOR=0.315	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,76:173:99:.:.:6138,3180,3852:.	0	0	19	0
chr15	23440520	23440540	TCTCCTCCTGCTCCCGCATCA	-	exonic	GOLGA6L2	.	nonframeshift deletion	GOLGA6L2:NM_001304388:exon8:c.1935_1955del:p.D645_G651del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1392523635	9.782e-06	8.127e-06	9.937e-06	9.632e-06	2.7e-06	4.95e-06	3.61e-06	4.5e-07	1.7e-07	0	0	0	0	0.0002	0	2.7e-06	0	0	6.621e-06	6.59e-06	0	1.354e-05	1.472e-05	0	0	.	.	0	0	0	0	0	0	0	1.472e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	837.29	142	chr15	23440519	.	TTCTCCTCCTGCTCCCGCATCA	T	837.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.98;DP=2382;ExcessHet=0;FS=1.572;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=57.77;MQRankSum=-2.144;QD=4.76;ReadPosRankSum=0.391;SOR=0.924	GT:AD:DP:GQ:PL	0/1:144,32:176:99:851,0,5918	18	0	1	0
chr15	24676688	24676688	A	G	exonic	NPAP1	.	nonsynonymous SNV	NPAP1:NM_018958:exon1:c.A821G:p.Q274R	.	423	1097	2	0	0	2	0.000910747	.	.	.	2756720	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.000911080049513	0.0002	.	0.0001	0.0001	0.0002	0	0	0.0002	0	6.064e-05	9.7e-05	15	154602	rs200204213	8.483e-05	8.482e-05	7.896e-05	9.076e-05	0.0003	7.209e-05	6.797e-05	0.0001	0.0001	0	0.0002	0	0	0	0.0003	9.083e-05	8.279e-05	5.797e-05	3.285e-05	3.283e-05	6.422e-05	0	7.348e-05	1.261e-05	7.98e-06	2.846e-05	1.858e-05	0	0	0	0	0	0	0	7.348e-05	0	0	0.018	0.50676	D	0.53	0.10103	T	0.925	0.51395	P	0.519	0.48163	P	0.498827	0.05079	N	1.392350	1	0.08975	N	0.895	0.22405	L	2.75	0.11622	T	-1.58	0.38151	N	0.081	0.05670	-1.0093	0.27136	T	0.024	0.10194	T	10	0.07051703	0.10270	T	9.11E-4	0.00866	T	0.041	0.10877	.	.	0.0846915920261	0.08053	0.07547296686719404	0.07483	0.283751403844	0.30810	0.36280927062	0.19794	T	0.007673	0.07062	T	-0.555995	0.00268	T	-0.738865	0.03939	T	0.0531040839850903	0.06037	T	0.204979	0.02394	T	0.07633118	0.17257	0.051912937	0.08450	0.07633118	0.17257	0.051912937	0.08450	-3.28	0.13480	T	.	.	0.112	0.22098	B	.	.	1.056184	0.14379	10.95	0.96633096423318499	0.30524	0.02160	0.06344	N	AEFDHCI	0.038304	0.05399	N	-0.737260214172483	0.14981	0.7510254	-0.954218908157963	0.10825	0.547749	0.415525640980921	0.20248	0.487112	0.14033	0	0.573888	0.26702	0	0.440796	0.06475	0	0.564101	0.26826	0	.	.	2.07	-0.331	0.12050	-0.195000	0.09546	-0.249000	0.10523	0.381000	0.20407	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.6073:0.0:0.3927:0.0	4.202	0.09929	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.003021	0.000000	0.006793	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1602.33	34	chr15	24676688	.	A	G	1602.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.479;DP=1535;ExcessHet=0;FS=0.63;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.7;ReadPosRankSum=-1.445;SOR=0.614	GT:AD:DP:GQ:PL	0/1:70,67:137:99:1616,0,1700	18	0	1	0
chr15	33066576	33066576	A	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.T1309C:p.S437P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.118	0.0439174776103	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.269e-06	0.0003	8.328e-06	4.195e-06	3.048e-05	2.95e-06	2.14e-06	3.16e-06	2.28e-06	3.048e-05	0	0	0	0	0	7.335e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.149	0.63918	T	0.999	0.90584	D	0.961	0.73157	D	0.013889	0.28700	N	0.367334	.	.	.	.	.	.	0.86	0.52416	T	-1.05	0.30140	N	0.667	0.67564	-0.3122	0.74643	T	0.279	0.65058	T	8	0.56316704	0.64902	D	0.043917	0.61227	D	0.118	0.32913	0.237	0.16760	0.692833615445	0.69019	.	.	0.0243119155432	0.02469	.	.	.	.	.	.	0.065645	0.60314	T	-0.143482	0.59815	T	0.97686767578125	0.71575	D	.	.	.	.	.	.	.	.	.	.	.	-11.775	0.83737	D	.	.	0.768	0.82694	P	.;.	.;.	1.889637	0.24000	16.23	0.99337903151617613	0.60051	0.70445	0.34593	D	AEFBCI	0.339556	0.43666	N	0.607978743589503	0.73679	6.005621	0.621611519535191	0.76513	6.504682	0.999997974355125	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	2.674000	0.46532	7.052000	0.57375	0.756000	0.94297	0.994000	0.38300	1.000000	0.68203	0.859000	0.40722	0.8664:0.0:0.0:0.1336	11.519	0.49792	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4091	5435.43	110	chr15	33066576	.	A	G	5435.43	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-0.723;DP=1826;ExcessHet=5.3738;FS=195.705;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=5.75;ReadPosRankSum=0.903;SOR=10.986	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,39:127:99:0|1:33066576_A_G:978,0,3239:33066576	2	0	9	8
chr15	33066577	33066577	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1308C:p.E436D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4545	5964.23	102	chr15	33066577	.	C	G	5964.23	.	AC=10;AF=0.455;AN=22;BaseQRankSum=-1.706;DP=1809;ExcessHet=6.9875;FS=214.034;InbreedingCoeff=-0.5833;MLEAC=13;MLEAF=0.591;MQ=60;MQRankSum=0;QD=5.63;ReadPosRankSum=0.759;SOR=11.083	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,39:127:99:0|1:33066576_A_G:978,0,3239:33066576	1	0	10	8
chr15	33066579	33066579	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1306C:p.E436Q	.	.	.	.	.	.	.	.	.	.	.	3676472	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.220	0.0465556673304	.	.	2.721e-05	0	0	0	0	4.859e-05	0	0	1.94e-05	3	154602	rs955154800	2.466e-05	2.805e-05	3.135e-05	1.79e-05	3.15e-05	1.806e-05	1.603e-05	2.287e-05	2.024e-05	0	0	0	0	1.874e-05	0	3.15e-05	0	0	1.316e-05	1.314e-05	1.286e-05	1.347e-05	2.94e-05	2.19e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.003	0.68238	D	0.286	0.60972	T	1.0	0.90584	D	0.989	0.81110	D	0.000805	0.41658	D	0.269242	.	.	.	.	.	.	0.2	0.61923	T	-1.07	0.39314	N	0.607	0.62442	-0.3966	0.72134	T	0.409	0.75810	T	8	0.5905696	0.66356	D	0.046556	0.62513	D	0.220	0.51569	0.204	0.11936	0.824378962961	0.82271	.	.	0.0221738766814	0.02225	.	.	.	.	.	.	-0.0740485	0.40679	T	-0.236485	0.51141	T	0.808419227600098	0.46935	D	.	.	.	.	.	.	.	.	.	.	.	-8.327	0.63277	D	.	.	0.419	0.64113	A	.;.	.;.	2.541376	0.32879	19.17	0.99614688724551159	0.75052	0.94574	0.61609	D	AEFBCI	0.820935	0.74161	D	0.762264303690397	0.83701	8.086839	0.787779339582059	0.88930	9.771612	0.99999999999998	0.74766	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	5.96	0.96695	6.672000	0.74315	7.690000	0.65738	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.947000	0.49155	0.0:1.0:0.0:0.0	20.422	0.99051	718	0.55760	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2667	3466.35	104	chr15	33066579	.	C	G	3466.35	.	AC=8;AF=0.267;AN=30;BaseQRankSum=-4.77;DP=1876;ExcessHet=5.3738;FS=177.509;InbreedingCoeff=-0.4075;MLEAC=9;MLEAF=0.3;MQ=60;MQRankSum=0;QD=3.69;ReadPosRankSum=0.676;SOR=10.462	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,22:120:99:0|1:33066576_A_G:216,0,3573:33066576	7	0	8	4
chr15	33066580	33066580	C	G	exonic	FMN1	.	nonsynonymous SNV	FMN1:NM_001103184:exon1:c.G1305C:p.K435N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	0.097882166908	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.37e-06	3.42e-06	0	2.755e-06	2.52e-05	2.3e-07	9e-08	.	.	0	0	0	2.52e-05	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.154	0.70582	T	1.0	0.90584	D	0.999	0.97372	D	0.000001	0.62929	D	0.096983	.	.	.	.	.	.	-0.38	0.72458	T	-2.13	0.59389	N	0.608	0.62526	0.078	0.83767	D	0.453	0.78650	T	8	0.56676614	0.65094	D	0.097882	0.76848	D	0.261	0.57352	0.305	0.27485	0.831138789675	0.82953	.	.	0.0235372491196	0.02386	.	.	.	.	.	.	-0.0593099	0.43016	T	-0.322971	0.42248	T	0.990393579006195	0.80614	D	.	.	.	.	.	.	.	.	.	.	.	-10.821	0.78667	D	.	.	0.891	0.85423	P	.;.	.;.	1.014109	0.13930	10.49	0.99542673395090209	0.70586	0.65955	0.32912	D	AEFBCI	0.401493	0.47596	N	0.357394877581215	0.59132	4.09007	0.32151679407882	0.56807	3.84457	0.999972656303353	0.50053	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.542086	0.14980	0	.	.	5.96	4.1	0.47196	-0.266000	0.08660	-0.170000	0.11235	0.599000	0.40250	0.526000	0.27158	0.290000	0.24159	0.957000	0.51019	0.0:0.7827:0.0:0.2173	10.418	0.43521	718	0.55760	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.4091	3779.55	104	chr15	33066580	.	C	G	3779.55	.	AC=9;AF=0.409;AN=22;BaseQRankSum=-3.599;DP=1781;ExcessHet=5.3738;FS=184.997;InbreedingCoeff=-0.52;MLEAC=12;MLEAF=0.545;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=0.608;SOR=10.494	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:98,22:120:99:0|1:33066576_A_G:216,0,3573:33066576	2	0	9	8
chr15	40621714	40621714	A	G	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.A1450G:p.M484V,KNL1:NM_170589:exon11:c.A1528G:p.M510V	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.106	0.00709341859946	.	.	3.33e-05	0	0	0	0	6.026e-05	0	0	3.23e-05	5	154602	rs752739201	3.698e-05	3.694e-05	3.544e-05	3.854e-05	0.0005	2.897e-05	2.595e-05	0.0001	7.555e-05	0	2.24e-05	0	0	1.873e-05	0.0005	4.142e-05	4.971e-05	0	5.255e-05	5.253e-05	7.707e-05	2.689e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	2.412e-05	0	0	0	0	0	0	0.0001	0	0	0.007	0.59928	D	0.14	0.34009	T	0.759	0.43487	P	0.187	0.36167	B	0.000028	0.55875	D	0.075697	1	0.81001	D	.	.	.	2.04	0.20808	T	-2.57	0.55501	D	0.505	0.53708	-0.9542	0.40238	T	0.059	0.24871	T	10	0.26937047	0.44462	T	0.007093	0.18786	T	0.106	0.30130	.	.	0.548779645056	0.54534	0.4220247397735816	0.42119	0.0379999867787	0.04038	0.36309209466	0.19836	T	0.495673	0.81829	T	-0.204729	0.20126	T	-0.37549	0.36250	T	0.181403973969656	0.19323	T	0.533147	0.17760	T	0.2349856	0.46327	0.25351772	0.51000	0.2349856	0.46327	0.25351772	0.50999	-6.419	0.51000	T	0.6600017479360973	0.73334	0.177	0.43626	B	.;.;.	.;.;.	2.226792	0.28424	17.79	0.98252969420110958	0.39594	0.97500	0.75152	D	AEFBI	0.204798	0.33121	N	0.346448941271405	0.58553	4.028167	0.408031725712069	0.62064	4.415764	0.895777591097297	0.25962	0.732398	0.92422	0	0.653731	0.59785	0	0.65145	0.50148	0	0.727631	0.95156	0	.	.	5.94	5.94	0.96165	3.777000	0.55071	9.213000	0.79249	-0.040000	0.17491	0.998000	0.41325	1.000000	0.68203	0.658000	0.32913	0.9321:0.0:0.0679:0.0	12.191	0.53582	463	0.78548	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001515	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1224.33	84	chr15	40621714	.	A	G	1224.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.11;DP=1710;ExcessHet=0;FS=0.798;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.76;ReadPosRankSum=-0.095;SOR=0.646	GT:AD:DP:GQ:PL	0/1:40,49:89:99:1238,0,1162	18	0	1	0
chr15	40624282	40624282	G	T	exonic	KNL1	.	nonsynonymous SNV	KNL1:NM_144508:exon10:c.G4018T:p.A1340S,KNL1:NM_170589:exon11:c.G4096T:p.A1366S	Microcephaly 4, primary, autosomal recessive, Autosomal recessive	0	1513	9	0	0	9	0.0029654	.	.	.	2476583	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.021	0.00176735739501	.	.	4.97e-05	0	0	0	0	7.494e-05	0	6.058e-05	5.17e-05	8	154602	rs764310658	4.994e-05	4.994e-05	4.901e-05	5.088e-05	0.0012	4.059e-05	3.734e-05	0.0006	0.0004	0	2.236e-05	0	0	1.874e-05	0.0012	4.587e-05	0.0001	6.956e-05	4.6e-05	4.597e-05	6.425e-05	2.69e-05	8.821e-05	2.109e-05	1.527e-05	3.762e-05	2.575e-05	2.413e-05	0	0	0	0	0	0	8.821e-05	0	0	0.229	0.18371	T	0.585	0.08505	T	0.007	0.17989	B	0.007	0.15521	B	0.604327	0.05664	N	1.224870	1	0.08975	N	.	.	.	2.32	0.16640	T	-0.27	0.11366	N	0.033	0.01999	-0.9853	0.33760	T	0.013	0.05273	T	10	0.04627055	0.03798	T	0.001767	0.03012	T	0.021	0.04004	.	.	0.0846915920261	0.08053	0.11093382128331554	0.11022	0.0374116781797	0.03967	0.241384193301	0.02916	T	0.02716	0.19952	T	-0.431075	0.01460	T	-0.665304	0.07912	T	0.0449456677981639	0.04592	T	0.531147	0.17633	T	0.034449313	0.03867	0.03742495	0.03392	0.034449313	0.03867	0.03742495	0.03391	-2.393	0.05090	T	0.5790308000829154	0.64591	0.111	0.24867	B	.;.;.	.;.;.	0.286389	0.06629	3.126	0.92668384724892827	0.22150	0.03574	0.08788	N	AEFBCI	0.031975	0.03525	N	-1.36099095644008	0.03012	0.1339094	-1.36566190873941	0.03624	0.1694563	0.925590276777297	0.26821	0.732398	0.92422	0	0.743671	0.97443	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	5.27	-3.23	0.04794	-1.031000	0.03689	0.320000	0.17174	0.610000	0.48991	0.000000	0.06391	0.011000	0.20116	0.108000	0.18652	0.345:0.2096:0.2459:0.1995	0.498	0.00537	472	0.77968	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.004076	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1426.33	40	chr15	40624282	.	G	T	1426.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.133;DP=929;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.64;ReadPosRankSum=0.203;SOR=0.683	GT:AD:DP:GQ:PL	0/1:81,53:134:99:1440,0,2307	18	0	1	0
chr15	41096253	41096253	G	C	exonic	INO80	.	nonsynonymous SNV	INO80:NM_017553:exon2:c.C58G:p.L20V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.499	0.230949694038	.	.	8.341e-06	0	0	0	0	1.513e-05	0	0	6.5e-06	1	154602	rs766496543	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.067	0.35918	T	0.07	0.43721	T	0.993	0.65571	D	0.967	0.71530	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.755	0.45626	L	-3.11	0.92721	D	-0.97	0.25770	N	0.658	0.68255	0.770	0.94036	D	0.844	0.94774	D	10	0.575322	0.65547	D	0.23095	0.88253	D	0.499	0.78288	0.236	0.16608	0.661633646292	0.65880	0.5260119555163638	0.52525	0.310035681446	0.33317	0.780231118202	0.78962	T	0.05765	0.30625	T	0.170503	0.71171	D	0.00713946	0.70798	D	0.634292668284165	0.37796	D	0.927907	0.73422	D	0.27592942	0.50656	0.27308488	0.53225	0.27592942	0.50655	0.27308488	0.53224	-4.238	0.27298	T	.	.	0.140	0.33846	B	.;.;.	.;.;.	4.624555	0.73463	26.0	0.99802759949871023	0.88728	0.98127	0.79829	D	AEFDBCI	0.868620	0.78881	D	0.846005111031047	0.88879	9.747598	0.867441971670391	0.93991	12.42632	0.999999999923393	0.74766	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	5.9	5.9	0.94952	9.602000	0.97623	11.835000	0.97647	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.272	0.98481	295	0.88218	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1111	303.08	34	chr15	41096253	.	G	C	303.08	.	AC=4;AF=0.111;AN=36;BaseQRankSum=-2.902;DP=1127;ExcessHet=0.7564;FS=158.935;InbreedingCoeff=-0.1318;MLEAC=4;MLEAF=0.111;MQ=60;MQRankSum=0;QD=0.93;ReadPosRankSum=0.442;SOR=9.437	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:62,17:79:50:.:.:50,0,1891:.	14	0	4	1
chr15	41892953	41892953	G	A	exonic	SPTBN5	.	nonsynonymous SNV	SPTBN5:NM_016642:exon3:c.C325T:p.R109C	.	425	1051	42	4	0	50	0.0232342	.	.	.	703181	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.518	.	0.0047	0.00519169	0.0067	0.0008	0.0023	0.0001	0.0109	0.0055	0.0115	0.0190	0.0059896	926	154602	rs62002144	0.0059	0.0059	0.0054	0.0065	0.0194	0.0058	0.0058	0.0187	0.0184	0.0009	0.0018	0.0069	0.0001	0.0098	0.0123	0.0052	0.0054	0.0194	0.0045	0.0045	0.0042	0.0049	0.0168	0.0042	0.0041	0.0138	0.0127	0.0008	0	0.0010	0.0084	0.0002	0.0130	0.0068	0.0056	0.0033	0.0168	0.012	0.54683	D	0.0	0.92824	D	1.0	0.90584	D	0.976	0.73562	D	0.022126	0.26695	N	0.254865	0.780432	0.29339	N	2.725	0.79712	M	-3.64	0.95145	D	-6.07	0.89871	D	0.402	0.44283	0.588	0.91738	D	0.852	0.95059	D	10	0.01108104	0.00244	T	.	.	.	0.518	0.79461	.	.	0.909062185264	0.90815	0.3414786615204494	0.34060	.	.	0.387197256088	0.23273	T	0.715572	0.91920	D	-0.151643	0.28054	T	0.0236792	0.71869	D	0.0439313884945464	0.04408	T	0.805019	0.45286	T	0.15299022	0.34701	0.18223727	0.41137	0.15299022	0.34701	0.18223727	0.41137	-7.991	0.61009	D	.	.	0.105	0.19438	B	.	.	4.133912	0.61886	24.4	0.99926306310736157	0.99103	0.63426	0.32086	D	AEFDGBCI	0.172957	0.30001	N	0.465640810230071	0.65096	4.779666	0.353059705884213	0.58690	4.041311	0.999998565111531	0.74766	0.580535	0.33130	0	0.626922	0.53725	0	0.578056	0.29568	0	0.664235	0.64389	0	.	.	5.15	4.23	0.49319	1.457000	0.34822	5.313000	0.48269	0.676000	0.76740	0.802000	0.29747	1.000000	0.68203	0.271000	0.23793	0.0854:0.0:0.6319:0.2827	7.083	0.24420	151	0.94052	Calponin homology domain|Calponin homology domain|Calponin homology domain|Calponin homology domain	.	.	.	.	.	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	0.014632	0.005051	0.009511	0.014620	0.000000	0.000000	0.030675	0.030303	0.05263	2028.83	34	chr15	41892953	.	G	A	2028.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.56;DP=756;ExcessHet=0.119;FS=1.992;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.76;ReadPosRankSum=1.1;SOR=0.904	GT:AD:DP:GQ:PL	0/1:45,29:74:99:780,0,1028	17	0	2	0
chr15	42685477	42685477	-	ACCCCATT	exonic	STARD9	.	frameshift insertion	STARD9:NM_020759:exon23:c.3899_3900insACCCCATT:p.E1304Pfs*10	.	432	1070	14	0	6	20	0.00649954	.	.	.	703197	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0011	0.0045	0	7.12e-05	11	154602	rs775583719	0.0012	0.0011	0.0011	0.0014	0.0035	0.0012	0.0011	0.0029	0.0028	0.0016	0.0007	0.0012	2.811e-05	0.0004	0.0035	0.0011	0.0019	0.0033	0.0028	0.0029	0.0030	0.0026	0.0046	0.0026	0.0025	0.0035	0.0034	0.0023	0.0022	0.0018	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	6593.29	376	chr15	42685477	.	A	AACCCCATT	6593.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.197;DP=4486;ExcessHet=0;FS=1.104;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.96;MQRankSum=-1.517;QD=14.59;ReadPosRankSum=-0.875;SOR=0.809	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,210:452:99:0|1:42685477_A_AACCCCATT:6607,0,8382:42685477	18	0	1	0
chr15	42685478	42685478	-	TGAGCTCCAA	exonic	STARD9	.	stopgain	STARD9:NM_020759:exon23:c.3900_3901insTGAGCTCCAA:p.P1301*	.	450	458	440	156	18	770	0.450839	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0	0	0	0	0.0012	0.0047	0	3.84e-05	1	26028	rs760755023	0.0012	0.0011	0.0010	0.0013	0.0035	0.0011	0.0011	0.0029	0.0028	0.0004	0.0006	0.0012	2.803e-05	0.0004	0.0035	0.0011	0.0018	0.0032	0.0023	0.0024	0.0026	0.0021	0.0046	0.0021	0.0020	0.0035	0.0034	0.0005	0.0022	0.0016	0.0009	0	0.0002	0.0034	0.0039	0.0057	0.0046	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	120332.0	549	chr15	42685478	.	G	GTGAGCTCCAA	120332.0	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.76;DP=6577;ExcessHet=0.463;FS=0;InbreedingCoeff=0.1556;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=19.57;ReadPosRankSum=-1.031;SOR=0.721	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:242,210:452:99:0|1:42685477_A_AACCCCATT:6607,0,8383:42685477	18	0	1	0
chr15	47765934	47765934	C	T	exonic	SEMA6D	.	nonsynonymous SNV	SEMA6D:NM_001358351:exon14:c.C1493T:p.A498V,SEMA6D:NM_001358352:exon14:c.C1493T:p.A498V,SEMA6D:NM_020858:exon14:c.C1493T:p.A498V,SEMA6D:NM_153616:exon14:c.C1493T:p.A498V,SEMA6D:NM_153617:exon14:c.C1493T:p.A498V,SEMA6D:NM_153618:exon14:c.C1493T:p.A498V,SEMA6D:NM_153619:exon14:c.C1493T:p.A498V,SEMA6D:NM_001198999:exon17:c.C1493T:p.A498V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0134984214484	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.37536	T	0.038	0.52727	D	0.907	0.50062	P	0.767	0.56720	P	0.000096	0.51296	N	0.201794	0.999326	0.47795	D	1.69	0.43327	L	1.99	0.21666	T	-2.65	0.57275	D	0.334	0.37509	-1.0867	0.06102	T	0.093	0.35255	T	10	0.25697744	0.43108	T	0.013498	0.32951	T	0.068	0.19811	0.419	0.46036	0.043077524339	0.03247	0.4742032582102288	0.47339	0.0773626685617	0.08700	0.301886856556	0.10682	T	0.333408	0.70326	T	-0.157166	0.27196	T	-0.463534	0.26216	T	0.949325680732727	0.63089	D	0.89931	0.64723	D	0.18057315	0.39185	0.17059931	0.39180	0.18057315	0.39185	0.17059931	0.39180	-9.83	0.73576	D	.	.	0.131	0.28778	B	.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.	2.725450	0.35659	19.96	0.99788615274999259	0.87484	0.92733	0.56413	D	AEFGBI	0.531966	0.55202	D	0.13009091673262	0.47870	3.006805	0.128850659411191	0.46030	2.855893	0.999999326366536	0.74766	0.651	0.46895	0	0.573888	0.26702	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	5.68	4.77	0.60425	3.407000	0.52394	4.044000	0.41450	0.599000	0.40250	0.997000	0.40164	0.999000	0.35428	0.969000	0.54022	0.0:0.9293:0.0:0.0707	14.381	0.66476	755	0.51144	.;Sema domain;.;.;Sema domain;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2742.83	34	chr15	47765934	.	C	T	2742.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.704;DP=884;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.06;ReadPosRankSum=1.22;SOR=0.693	GT:AD:DP:GQ:PL	0/1:60,43:103:99:1102,0,1631	17	0	2	0
chr15	48141130	48141130	C	A	exonic	SLC24A5	.	nonsynonymous SNV	SLC24A5:NM_205850:exon8:c.C1096A:p.P366T	Albinism, oculocutaneous, type VI, Autosomal recessive	421	1100	1	0	0	1	0.000454339	.	.	.	1892307	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.566	0.0639862753667	0.0002	.	0.0002	0	0	0	0	0.0002	0	0.0012	0.0002329	36	154602	rs147788058	0.0003	0.0003	0.0003	0.0003	0.0014	0.0003	0.0003	0.0012	0.0011	0	2.237e-05	0	0	0	0.0003	0.0003	0.0002	0.0014	0.0002	0.0002	8.998e-05	0.0002	0.0015	0.0001	9.239e-05	0.0007	0.0005	0	0	0	0	0	0	0	0.0002	0	0.0015	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.3	0.90472	M	-0.05	0.63403	T	-7.82	0.95977	D	0.928	0.94904	0.199	0.85898	D	0.560	0.83994	D	10	0.62241805	0.68053	D	0.063986	0.69136	D	0.566	0.82289	.	.	0.914126891962	0.91326	0.9182716371250894	0.91803	0.42405282143	0.42844	0.631505846977	0.57359	T	0.765378	0.93678	D	0.0761733	0.61590	D	0.296108	0.88019	D	0.712616562843323	0.41329	D	0.843016	0.51993	T	0.86288536	0.88305	0.8965776	0.94733	0.86288536	0.88307	0.8965776	0.94734	-10.015	0.75969	D	0.5500690276727405	0.61877	0.433	0.63085	A	.;.	.;.	5.059321	0.84316	28.3	0.99689782885345124	0.79842	0.99670	0.98521	D	AEFI	0.932224	0.92226	D	0.998093092822973	0.95685	13.86129	0.946399583785166	0.97295	15.89282	0.999999999649299	0.74766	0.706298	0.61202	0	0.670034	0.63936	0	0.709663	0.75317	0	0.655142	0.61905	0	.	.	5.78	5.78	0.91418	7.415000	0.79344	7.598000	0.61467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:1.0:0.0:0.0	20.367	0.98884	837	0.37933	Sodium/calcium exchanger membrane region;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003817	0.05263	954.83	35	chr15	48141130	.	C	A	954.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.646;DP=709;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.02;ReadPosRankSum=1.87;SOR=0.756	GT:AD:DP:GQ:PL	0/1:32,19:51:99:481,0,825	17	0	2	0
chr15	51480616	51480616	G	C	exonic	DMXL2	.	nonsynonymous SNV	DMXL2:NM_001378460:exon21:c.C4471G:p.L1491V,DMXL2:NM_001174117:exon22:c.C4582G:p.L1528V,DMXL2:NM_001378464:exon23:c.C6250G:p.L2084V,DMXL2:NM_001174116:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378457:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378458:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378459:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378461:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378462:exon24:c.C6490G:p.L2164V,DMXL2:NM_001378463:exon24:c.C6490G:p.L2164V,DMXL2:NM_015263:exon24:c.C6490G:p.L2164V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.704	0.117777155765	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.094e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.998	0.73220	D	0.984	0.76113	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.405	0.69568	M	-2.06	0.85875	D	-2.88	0.60507	D	0.74	0.79406	0.483	0.90301	D	0.707	0.89914	D	10	0.7455675	0.75263	D	0.117777	0.79764	D	0.704	0.89376	0.462	0.53079	0.79628066686	0.79438	0.5831259576205228	0.58241	0.790969623184	0.65777	0.804797291756	0.82694	D	0.413358	0.76724	T	0.355009	0.86863	D	0.27217	0.86691	D	0.983855545520782	0.75369	D	0.938406	0.78595	D	0.71831286	0.79067	0.66708344	0.80475	0.71831286	0.79069	0.66708344	0.80476	-6.497	0.50739	T	.	.	0.783	0.76515	P	.;.;.	.;.;.	4.493995	0.70227	25.5	0.99814742571298831	0.89797	0.98484	0.83265	D	AEFBI	0.820937	0.74161	D	0.826416697591381	0.87726	9.319382	0.824365288908583	0.91435	10.88461	0.9999938428267	0.74766	0.651	0.46895	0	0.708844	0.79440	0	0.658983	0.55881	0	0.655142	0.61905	0	.	.	5.77	5.77	0.91077	6.935000	0.75699	11.904000	0.99435	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0725:0.0:0.9275:0.0	13.230	0.59363	505	0.75648	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4062	1514.26	131	chr15	51480616	.	G	C	1514.26	.	AC=13;AF=0.406;AN=32;BaseQRankSum=-4.773;DP=2473;ExcessHet=13.8672;FS=456.581;InbreedingCoeff=-0.5797;MLEAC=14;MLEAF=0.438;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.244;SOR=13.277	GT:AD:DP:GQ:PL	0/1:79,48:127:99:374,0,1627	3	0	13	3
chr15	65624503	65624503	G	C	exonic	SLC24A1	.	nonsynonymous SNV	SLC24A1:NM_001301031:exon1:c.G423C:p.K141N,SLC24A1:NM_001301032:exon1:c.G423C:p.K141N,SLC24A1:NM_004727:exon2:c.G423C:p.K141N,SLC24A1:NM_001301033:exon4:c.G423C:p.K141N	Night blindness, congenital stationary (complete), 1D, autosomal recessive, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.0437088708563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0098	0.0002	0.0001	0.0002	0.0001	0.0001	0.0002	0.0002	0.0002	0	7.768e-05	0	0	0	0.0002	8.519e-05	4.757e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.961	0.70482	D	0.036487	0.24515	N	0.289027	1	0.08975	N	1.83	0.48079	L	-0.39	0.72125	T	-1.89	0.44094	N	0.193	0.26957	-0.6646	0.62072	T	0.376	0.73370	T	10	0.14750645	0.27949	T	0.043709	0.61120	D	0.071	0.20720	0.248	0.18447	0.814655732074	0.81291	0.06411332316461787	0.06350	0.277029944497	0.30173	0.317594438791	0.13056	T	0.022452	0.58404	T	-0.167159	0.25664	T	-0.477889	0.24671	T	0.523743510246277	0.33503	D	0.830817	0.50934	T	0.14003113	0.32323	0.15122224	0.35631	0.14003113	0.32323	0.15122224	0.35630	-5.061	0.37611	T	.	.	0.386	0.58803	A	.;.;.;.;.;.	.;.;.;.;.;.	1.694742	0.21594	15.27	0.99300094975893183	0.58577	0.11248	0.16507	N	AEFBI	0.045447	0.07435	N	-0.329018778326971	0.28049	1.543991	-0.502545089104272	0.22083	1.197762	0.0106939354388256	0.12067	0.615465	0.37627	0	0.633656	0.55848	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	4.78	2.88	0.32617	1.145000	0.31189	2.573000	0.33375	-0.106000	0.15538	0.012000	0.18695	0.972000	0.29809	0.129000	0.19529	0.2157:0.0:0.7843:0.0	6.818	0.23027	605	0.67457	.;.;.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	362.33	43	chr15	65624503	.	G	C	362.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-5.957;DP=1086;ExcessHet=0;FS=137.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=2.09;ReadPosRankSum=1.77;SOR=5.836	GT:AD:DP:GQ:PL	0/1:138,35:175:99:376,0,4527	18	0	1	0
chr15	74072258	74072258	G	A	exonic	GOLGA6A	.	nonsynonymous SNV	GOLGA6A:NM_001038640:exon14:c.C1553T:p.T518M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00168270126752	.	.	0.0017	0.0035	0.0092	0.0051	0	0.0001	0.0023	0.0010	3.84e-05	1	26028	rs752731361	0.0004	0.0018	0.0004	0.0003	0.0071	0.0004	0.0003	0.0064	0.0062	0.0011	0.0048	0	0.0071	0	0.0002	1.349e-05	0.0004	0.0002	0.0012	0.0046	0.0011	0.0013	0.0079	0.0011	0.0010	0.0067	0.0063	0.0011	0	0.0079	0	0.0020	0	0	4.447e-05	0.0039	0.0006	0.296	0.14694	T	1.0	0.01155	T	0.021	0.18474	B	0.006	0.12133	B	.	.	.	.	1	0.08975	N	-2.455	0.00064	N	1.97	0.22067	T	1.57	0.00677	N	0.11	0.09631	-0.9724	0.36691	T	0.009	0.03011	T	9	0.006852895	0.00156	T	0.001683	0.02779	T	0.027	0.05988	0.237	0.16760	0.0138822411134	0.00435	0.11663055396492457	0.11591	1.78550268228	0.91441	0.489605456591	0.37384	T	0.001307	0.00783	T	-0.685273	0.00045	T	-0.763908	0.02974	T	0.0176164157190372	0.00494	T	0.20168	0.02313	T	0.011767109	0.00022	0.02677526	0.00785	0.011767109	0.00022	0.02677526	0.00785	-5.114	0.38054	T	.	.	0.062	0.01252	B	.	.	-0.236041	0.02913	0.421	0.42590425614762761	0.03150	0.00655	0.02844	N	AEFI	0.040268	0.05965	N	-1.89900826124446	0.00345	0.01481682	-1.89515600191197	0.00501	0.02217462	7.61041393411946E-4	0.07758	0.553676	0.25195	0	0.588015	0.36545	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	1.55	-3.08	0.05022	0.934000	0.28510	-0.586000	0.08350	-0.970000	0.01946	0.004000	0.16614	0.000000	0.08366	0.000000	0.00833	0.197:0.1651:0.3986:0.2393	1.000	0.01384	824	0.40336	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02632	219.33	59	chr15	74072258	.	G	A	219.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.378;DP=1064;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.29;MQRankSum=-2.461;QD=2.74;ReadPosRankSum=1.05;SOR=0.655	GT:AD:DP:GQ:PL	0/1:62,18:80:99:233,0,1561	18	0	1	0
chr15	75268848	75268848	C	T	exonic	GOLGA6C	.	nonsynonymous SNV	GOLGA6C:NM_001164404:exon14:c.C1553T:p.T518M	.	478	1041	3	0	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00205986021916	.	.	0.0015	0.0099	0	0	0	0.0012	0	0	0.000461	12	26028	rs763563111	0.0028	0.0033	0.0031	0.0026	0.0438	0.0027	0.0027	0.0417	0.0409	0.0031	0.0438	0	0.0135	0	0.0006	0.0002	0.0035	0.0015	0.0046	0.0089	0.0043	0.0050	0.0328	0.0043	0.0041	0.0295	0.0282	0.0044	0	0.0328	0	0.0070	0	0	9.875e-05	0.0106	0.0017	0.239	0.17761	T	1.0	0.01155	T	0.01	0.15535	B	0.002	0.06944	B	.	.	.	.	1	0.08975	N	-3.155	0.00009	N	1.97	0.22067	T	1.57	0.00677	N	0.061	0.03283	-0.9617	0.38858	T	0.011	0.03949	T	8	0.0045684576	0.00095	T	0.00206	0.03775	T	0.021	0.04004	0.274	0.22528	0.0138822411134	0.00435	0.17643580179217894	0.17562	1.71623382196	0.90501	0.560921132565	0.47399	T	0.002424	0.01816	T	-0.305667	0.08136	T	-0.676846	0.07177	T	0.00812584191375751	0.00097	T	0.19498	0.02126	T	0.018852912	0.00409	0.044147443	0.05655	0.018852912	0.00409	0.044147443	0.05655	-5.102	0.37929	T	.	.	0.063	0.01534	B	.	.	-0.316323	0.02547	0.307	0.84185768624106028	0.15146	0.01822	0.05664	N	AEFI	0.035930	0.04705	N	-1.53391093877469	0.01631	0.07131119	-1.54397286924548	0.02018	0.09220659	0.00241385320332672	0.09408	0.553676	0.25195	0	0.588015	0.36545	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	.	.	.	1.626000	0.36650	-0.023000	0.12899	-0.657000	0.04367	0.032000	0.20554	0.000000	0.08366	0.000000	0.00833	0.0:0.999:0.0:0.001	5.818	0.17765	509	0.75304	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02941	32.13	44	chr15	75268848	.	C	T	32.13	.	AC=1;AF=0.029;AN=34;BaseQRankSum=0.842;DP=436;ExcessHet=0;FS=0;InbreedingCoeff=-0.0304;MLEAC=1;MLEAF=0.029;MQ=38.13;MQRankSum=-1.645;QD=6.43;ReadPosRankSum=-1.036;SOR=1.609	GT:AD:DP:GQ:PL	0/1:3,2:5:45:45,0,75	16	0	1	2
chr15	75689635	75689635	C	T	exonic	CSPG4	.	nonsynonymous SNV	CSPG4:NM_001897:exon3:c.G1430A:p.R477H	.	422	1077	23	0	0	23	0.010565	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.068	0.0120667652604	.	.	0.0066	0.0030	0.0036	0.0006	0.0030	0.0091	0.0045	0.0054	3.84e-05	1	26028	rs200493777	7.295e-05	0.0015	7.395e-05	7.193e-05	0.0008	6.151e-05	5.734e-05	0.0005	0.0005	0.0008	0.0001	0	0.0002	0.0001	0.0005	4.339e-05	6.65e-05	6.975e-05	0.0004	0.0022	0.0003	0.0004	0.0010	0.0003	0.0003	0.0008	0.0007	0.0010	0	0.0001	0.0003	0	0.0003	0	8.969e-05	0.0005	0.0004	0.544	0.06713	T	0.024	0.56640	D	0.513	0.37366	P	0.079	0.28749	B	0.000447	0.44317	D	0.096704	0.953023	0.26418	N	2.595	0.75868	M	2.14	0.19450	T	-1.73	0.41046	N	0.24	0.27077	-1.0460	0.15534	T	0.043	0.18326	T	10	0.00795725	0.00181	T	0.012067	0.30309	T	0.068	0.19811	.	.	0.366659145958	0.36277	0.5800590243062339	0.57934	0.423483163706	0.42806	0.293441236019	0.09426	T	0.182449	0.53447	T	-0.172229	0.24898	T	-0.485171	0.23899	T	0.0405854374412424	0.03796	T	0.773423	0.40508	T	0.036069673	0.04365	0.037466243	0.03404	0.036069673	0.04365	0.037466243	0.03404	-4.29	0.28037	T	.	.	0.075	0.05711	B	.	.	1.613444	0.20617	14.83	0.98479293593176109	0.41954	0.24936	0.22547	N	AEFBI	0.188776	0.31604	N	-0.352546072684954	0.27179	1.489096	-0.401571392193893	0.24950	1.369288	0.99754577931452	0.35740	0.554377	0.28877	0	0.588066	0.40923	0	0.576033	0.28219	0	0.530356	0.10902	0	.	.	5.12	4.19	0.48645	0.882000	0.27824	1.349000	0.25794	0.524000	0.24156	0.003000	0.16062	0.750000	0.26544	0.003000	0.05239	0.0:0.8315:0.0:0.1685	9.359	0.37349	162	0.93704	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.016110	0.026667	0.005464	0.004310	0.055556	0.034483	0.025547	0.016393	0.05263	107.21	34	chr15	75689635	.	C	T	107.21	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.36;DP=1018;ExcessHet=0.119;FS=13.909;InbreedingCoeff=-0.0654;MLEAC=2;MLEAF=0.053;MQ=58.55;MQRankSum=-8.042;QD=0.51;ReadPosRankSum=0.519;SOR=2.278	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:97,9:106:81:0|1:75689631_A_G:81,0,3995:75689631	17	0	2	0
chr15	81300063	81300063	G	A	exonic	IL16	.	nonsynonymous SNV	IL16:NM_004513:exon2:c.G634A:p.E212K,IL16:NM_001172128:exon14:c.G2737A:p.E913K,IL16:NM_001352686:exon14:c.G2890A:p.E964K,IL16:NM_172217:exon14:c.G2737A:p.E913K,IL16:NM_001352684:exon15:c.G907A:p.E303K,IL16:NM_001352685:exon15:c.G2227A:p.E743K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.0064358435196	.	.	9.199e-06	0.0001	0	0	0	0	0	0	6.5e-06	1	154602	rs776312860	6.365e-06	6.84e-06	5.594e-06	7.153e-06	9.426e-05	3e-06	2.17e-06	2.497e-05	1.292e-05	9.426e-05	2.642e-05	0	0	0	0	3.669e-06	1.719e-05	0	1.972e-05	1.97e-05	1.285e-05	2.691e-05	7.243e-05	5.24e-06	2.45e-06	1.92e-05	1.032e-05	7.243e-05	0	0	0	0	0	0	0	0	0	0.107	0.31532	T	0.672	0.06265	T	0.036	0.21998	B	0.006	0.12133	B	0.223104	0.16092	N	0.524360	1	0.08975	N	0.785	0.19527	N	2.67	0.12575	T	-1.54	0.40274	N	0.114	0.10198	-1.0192	0.23975	T	0.025	0.10553	T	10	0.07611278	0.11850	T	0.006436	0.16927	T	0.027	0.05988	0.215	0.13498	0.115124310173	0.11017	0.21934208993019821	0.21850	0.125504674622	0.14151	0.391204237938	0.23839	T	0.183089	0.53531	T	-0.375545	0.03323	T	-0.592577	0.13443	T	0.0396013639958718	0.03619	T	0.705629	0.31596	T	0.072976254	0.16274	0.06451139	0.12940	0.072976254	0.16274	0.06451139	0.12940	-4.076	0.26679	T	.	.	0.076	0.10931	B	.;.;.	.;.;.	1.355620	0.17637	13.28	0.98396977539323716	0.41020	0.29975	0.23962	N	AEFDGBHCI	.	.	.	-0.805465385257051	0.13170	0.6469491	-0.810531796448373	0.14240	0.743067	0.999999992965173	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	4.33	3.41	0.38145	0.931000	0.28471	0.602000	0.19937	0.676000	0.76740	0.002000	0.15269	0.000000	0.08366	0.003000	0.05239	0.0827:0.0:0.9173:0.0	12.363	0.54540	812	0.42537	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1610.33	33	chr15	81300063	.	G	A	1610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.3;DP=883;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.75;ReadPosRankSum=1.36;SOR=0.689	GT:AD:DP:GQ:PL	0/1:74,63:137:99:1624,0,1814	18	0	1	0
chr15	84858139	84858139	C	T	exonic	ALPK3	.	nonsynonymous SNV	ALPK3:NM_020778:exon6:c.C3401T:p.A1134V	.	409	1094	19	0	0	19	0.00860897	.	.	.	505269	not_provided|ALPK3-related_disorder|not_specified|Cardiovascular_phenotype	MedGen:C3661900|.|MedGen:CN169374|MedGen:CN230736	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.015	0.0991630455031	0.0005	0.000399361	0.0012	0.0003	0.0018	0	0	0.0015	0.0014	0.0017	0.0001153	3	26028	rs139666355	0.0009	0.0009	0.0008	0.0009	0.0093	0.0008	0.0008	0.0073	0.0066	0.0005	0.0018	0.0039	0	0	0.0093	0.0007	0.0015	0.0014	0.0007	0.0007	0.0007	0.0006	0.0025	0.0006	0.0005	0.0014	0.0011	9.627e-05	0	0.0015	0.0029	0	0	0.0102	0.0007	0.0009	0.0025	0.009	0.57480	D	0.103	0.38305	T	0.022	0.18677	B	0.01	0.14941	B	0.405146	0.13071	N	0.720818	1	0.08975	N	1.545	0.39105	L	0.16	0.60610	T	-1.04	0.27259	N	0.053	0.02462	-1.0025	0.29197	T	0.131	0.44188	T	10	0.005576074	0.00123	T	0.099163	0.77063	D	0.015	0.02232	.	.	0.516217604878	0.51264	0.11891924480858854	0.11818	0.111437477428	0.12582	0.435870021582	0.30012	T	0.013169	0.11438	T	-0.458627	0.01003	T	-0.461641	0.26420	T	0.00349060985136757	0.00037	T	0.510949	0.16331	T	0.11256473	0.26591	0.078325756	0.17532	0.11256473	0.26591	0.078325756	0.17532	-4.546	0.31486	T	.	.	0.120	0.24633	B	.	.	0.605318	0.09738	6.506	0.97486891558126965	0.34219	0.12586	0.17359	N	AEFDGBI	0.100213	0.20156	N	-0.853872196482602	0.11955	0.579899	-0.919521836522363	0.11634	0.5938894	0.99702651272272	0.35208	0.638212	0.43195	0	0.59043	0.45803	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	4.69	0.158	0.14233	-0.391000	0.07383	-0.067000	0.12346	0.585000	0.30472	0.000000	0.06391	0.000000	0.08366	0.376000	0.26245	0.1741:0.3815:0.3402:0.1042	2.739	0.04926	641	0.64016	.	.	.	.	.	.	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	0.007568	0.000000	0.014946	0.008772	0.000000	0.008621	0.003049	0.000000	0.05263	1564.83	34	chr15	84858139	.	C	T	1564.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.57;DP=756;ExcessHet=0.119;FS=0.773;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-0.667;SOR=0.711	GT:AD:DP:GQ:PL	0/1:18,36:54:99:919,0,448	17	0	2	0
chr15	88858152	88858152	G	A	exonic	ACAN	.	nonsynonymous SNV	ACAN:NM_001135:exon12:c.G5567A:p.S1856N,ACAN:NM_001369268:exon12:c.G5567A:p.S1856N,ACAN:NM_013227:exon12:c.G5567A:p.S1856N	Osteochondritis dissecans, short stature, and early-onset osteoarthritis, Autosomal dominant;Spondyloepimetaphyseal dysplasia, aggrecan type;Spondyloepiphyseal dysplasia, Kimberley type, Autosomal dominant	0	1519	3	0	0	3	0.000986518	.	.	.	376734	not_provided|Inborn_genetic_diseases|not_specified|Meniere_disease	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374|MONDO:MONDO:0007972,MedGen:C0025281,OMIM:156000	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.013211905361	0.0011	.	0.0014	0	0.0007	0	0.0026	0.0019	0	0.0007	0.0012936	200	154602	rs200762388	0.0014	0.0014	0.0013	0.0014	0.0014	0.0013	0.0013	0.0014	0.0014	0.0001	0.0006	0.0021	0	0.0026	0.0003	0.0014	0.0016	0.0008	0.0010	0.0010	0.0010	0.0010	0.0014	0.0008	0.0008	0.0012	0.0011	0.0002	0	0.0008	0.0017	0	0.0018	0	0.0014	0.0009	0.0004	0.003	0.78490	D	0.024	0.56640	D	.	.	.	.	.	.	0.001877	0.37789	N	0.000000	0.999371	0.21289	N	.	.	.	3.79	0.04046	T	-2.32	0.53096	N	0.393	0.52475	-1.0941	0.04884	T	0.066	0.27191	T	10	0.03621176	0.01907	T	0.013212	0.32434	T	0.225	0.52323	.	.	0.75628909357	0.75407	0.6005349000290376	0.59984	0.746177584644	0.63531	0.549843132496	0.45835	T	.	.	.	-0.441223	0.01272	T	-0.413827	0.31786	T	0.0716508595910453	0.08881	T	0.850115	0.54290	D	0.30878377	0.53681	0.33646685	0.59448	0.30878377	0.53681	0.33646685	0.59448	-9.904	0.75176	D	0.12656324713814032	0.12801	0.448	0.63820	A	.;.;.;.;.;.	.;.;.;.;.;.	4.356630	0.66959	25.0	0.99670709967959203	0.78587	0.98354	0.81929	D	AEFBI	0.849396	0.76622	D	0.89993245169139	0.91756	11.04791	0.859269497821852	0.93545	12.11461	0.999995352848182	0.74766	0.615465	0.37627	0	0.573888	0.26702	0	0.658983	0.55881	0	0.542086	0.14980	0	.	.	5.56	5.56	0.83678	6.788000	0.74893	11.787000	0.96267	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.931000	0.46843	0.0:0.0:1.0:0.0	18.513	0.90875	969	0.06854	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.005051	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2077.33	141	chr15	88858152	.	G	A	2077.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.117;DP=2163;ExcessHet=0;FS=1.249;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=1.22;SOR=0.824	GT:AD:DP:GQ:PL	0/1:78,79:157:99:2091,0,2199	18	0	1	0
chr15	89776903	89776915	AGGGCAGGGGCAG	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	68	42	561	596	255	2008	0.954273	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3421	25907.6	45	chr15	89776903	.	AGGGCAGGGGCAG	*	25907.6	.	AC=13;AF=0.342;AN=38;DP=1095;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=13;MLEAF=0.342;MQ=60;QD=29.14;SOR=0.727	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,19:36:99:1|0:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:1484,668,623:89776889	8	2	9	0
chr15	89776915	89776915	G	0	exonic	MESP2	.	.	.	Spondylocostal dysostosis 2, autosomal recessive	164	151	35	35	1137	1242	0.257985	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.9118	2087.72	45	chr15	89776915	.	G	*	2087.72	.	AC=31;AF=0.912;AN=34;DP=1075;ExcessHet=0;FS=0;InbreedingCoeff=0.4414;MLEAC=32;MLEAF=0.941;MQ=60;QD=3.01;SOR=0.704	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,19:36:45:1|1:89776889_GAGGGGCAGGGGCAAGGGCAGGGGC_G:861,45,0:89776889	1	15	1	2
chr15	89803683	89803683	C	G	exonic	ANPEP	.	nonsynonymous SNV	ANPEP:NM_001381924:exon7:c.G1401C:p.Q467H,ANPEP:NM_001150:exon8:c.G1401C:p.Q467H,ANPEP:NM_001381923:exon8:c.G1401C:p.Q467H	.	422	1096	4	0	0	4	0.00182149	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.238	0.0388813148285	0.0002	.	0.0007	9.621e-05	0	0	0	9.022e-05	0	0.0048	0.0005757	89	154602	rs148567888	0.0003	0.0003	0.0002	0.0004	0.0049	0.0003	0.0003	0.0037	0.0035	5.975e-05	4.479e-05	0	0	0	0.0049	3.059e-05	0.0004	0.0040	9.847e-05	9.841e-05	5.139e-05	0.0001	0.0017	6.001e-05	4.875e-05	0.0008	0.0006	0	0	0	0	0.0002	0	0.0034	7.351e-05	0	0.0017	0.003	0.68238	D	0.007	0.69154	D	0.999	0.77913	D	0.986	0.76916	D	0.000001	0.62929	D	0.058208	0.997352	0.43821	D	2.285	0.65182	M	4.04	0.03121	T	-3.74	0.71042	D	0.558	0.58287	-1.1521	0.00963	T	0.047	0.20156	T	10	0.030548751	0.01182	T	0.038881	0.58482	D	0.238	0.54217	0.722	0.85673	0.668779650676	0.66598	0.5962080685427351	0.59550	0.515275590241	0.49436	0.525485098362	0.42399	T	0.316855	0.68835	T	-0.450992	0.01115	T	-0.420054	0.31070	T	0.153436396995055	0.17374	T	0.909909	0.68110	D	0.85339373	0.87587	0.7185164	0.83383	0.85339373	0.87589	0.7185164	0.83384	-11.234	0.80925	D	.	.	0.751	0.75084	P	.	.	3.927271	0.57374	23.8	0.99329090538237697	0.59700	0.87594	0.47185	D	AEFDBCI	0.729194	0.67698	D	0.444055843295137	0.63867	4.628875	0.328695120608168	0.57233	3.888242	0.999999954105724	0.74766	0.722319	0.85440	0	0.573888	0.26702	0	0.645312	0.48771	0	0.735409	0.98432	0	.	.	4.58	4.58	0.56077	1.832000	0.38791	3.295000	0.37336	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.588000	0.31090	0.0:1.0:0.0:0.0	14.853	0.69946	451	0.79296	Peptidase M1, membrane alanine aminopeptidase, 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	0.002014	0.000000	0.001359	0.002924	0.000000	0.000000	0.003049	0.003788	0.05263	4470.83	37	chr15	89803683	.	C	G	4470.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.5;DP=1018;ExcessHet=0.119;FS=1.68;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=0.292;SOR=0.788	GT:AD:DP:GQ:PL	0/1:96,69:165:99:1709,0,2536	17	0	2	0
chr15	92630242	92630242	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G448C:p.D150H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.311	0.073062026662	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0002	0.0016	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0002	0.0001	0	3.865e-05	0	0	0.0002	0.0002	8.467e-05	9.359e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.0	0.92824	D	0.999	0.77913	D	0.966	0.71341	D	0.000026	0.55875	D	0.067157	0.873479	0.54805	D	2.415	0.69758	M	-0.29	0.67712	T	-6.37	0.91058	D	0.842	0.83781	-0.1468	0.78995	T	0.392	0.74554	T	10	0.8345976	0.82617	D	0.073062	0.71693	D	0.547	0.81193	0.638	0.77470	0.411401001288	0.40751	0.7881159167461645	0.78763	1.26599244295	0.82158	0.709424495697	0.68509	T	0.284843	0.65763	T	0.152206	0.69474	D	-0.0191427	0.69085	D	0.991113245487213	0.81371	D	0.873813	0.58316	D	0.7585243	0.81366	0.70495456	0.82608	0.7585243	0.81367	0.70495456	0.82609	-14.968	0.95777	D	.	.	0.987	0.92764	P	.	.	5.202349	0.87272	29.2	0.94001699280494422	0.24097	0.88850	0.48980	D	AEFGBHCI	0.899320	0.84358	D	0.493323972852971	0.66696	4.983993	0.544622876438528	0.71025	5.592279	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.31	5.31	0.75063	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.980000	0.58198	0.0:1.0:0.0:0.0	17.723	0.88265	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3125	2106.89	75	chr15	92630242	.	C	G	2106.89	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.614;DP=1407;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3775;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.07;ReadPosRankSum=-0.159;SOR=9.592	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:43:0|1:92630242_C_G:43,0,3704:92630242	3	0	5	11
chr15	92630243	92630243	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G447C:p.E149D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.00647740870007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.931e-06	0.0002	2.735e-06	1.518e-05	1.085e-05	4.98e-06	3.84e-06	5.78e-06	4.57e-06	0	0	0	0	0	0	1.085e-05	1.662e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.309	0.14064	T	0.202	0.27414	T	0.905	0.49920	P	0.642	0.52168	P	0.000043	0.53742	D	0.070627	0.877532	0.28105	N	1.29	0.32370	L	1.32	0.35219	T	-1.78	0.42001	N	0.393	0.43417	-0.9486	0.41211	T	0.094	0.35631	T	10	0.22394639	0.39186	T	0.006477	0.17072	T	0.082	0.23913	0.268	0.21576	0.0138822411134	0.00435	0.271622458937736	0.27075	1.10128899491	0.77738	0.574964404106	0.49377	T	0.036879	0.24268	T	-0.214669	0.18726	T	-0.546133	0.17699	T	0.845151245594025	0.49752	D	0.824917	0.48720	T	0.10445555	0.24694	0.09527147	0.22589	0.10445555	0.24694	0.09527147	0.22588	-7.313	0.56288	T	.	.	0.225	0.45665	B	.	.	2.210674	0.28203	17.72	0.74021373359626774	0.10541	0.42009	0.26783	N	AEFGBHCI	0.099426	0.20014	N	-0.41939284014467	0.24789	1.341029	-0.432723637638818	0.24043	1.31443	0.999999998690202	0.74766	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	-3.77	0.04062	0.178000	0.16634	-0.583000	0.08366	-0.257000	0.07002	0.993000	0.37899	0.025000	0.21018	0.980000	0.58198	0.0:0.31:0.0:0.69	12.886	0.57433	957	0.09725	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.3125	2099.97	75	chr15	92630243	.	C	G	2099.97	.	AC=5;AF=0.313;AN=16;BaseQRankSum=-1.828;DP=1406;ExcessHet=1.3;FS=208.478;InbreedingCoeff=-0.3798;MLEAC=8;MLEAF=0.5;MQ=60;MQRankSum=0;QD=4.06;ReadPosRankSum=-0.142;SOR=9.575	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:93,9:102:43:0|1:92630242_C_G:43,0,3704:92630242	3	0	5	11
chr15	92630245	92630245	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G445C:p.E149Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.193	0.0228964332442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.015	0.52492	D	0.017	0.60337	D	1.0	0.90584	D	0.99	0.78936	D	0.000043	0.53742	D	0.070627	0.664441	0.44502	D	2.095	0.58118	M	0.75	0.50192	T	-2.73	0.58085	D	0.569	0.59223	-0.2273	0.76958	T	0.332	0.69960	T	10	0.60730934	0.67247	D	0.022896	0.45827	T	0.215	0.50805	0.404	0.43573	0.0401082797425	0.02173	0.4675481303851458	0.46673	1.15860135375	0.79410	0.565466284752	0.48038	T	0.190896	0.54557	T	-0.046153	0.45029	T	-0.304072	0.44293	T	0.961356455792854	0.66059	D	0.911409	0.68582	D	0.33561563	0.55928	0.20909509	0.45240	0.33561563	0.55928	0.20909509	0.45239	-8.763	0.66158	D	.	.	0.729	0.74160	P	.	.	4.587400	0.72525	25.8	0.98463620350359216	0.41768	0.88917	0.49082	D	AEFGBHCI	0.859421	0.77710	D	0.492419084689025	0.66645	4.977127	0.550374849278894	0.71422	5.652677	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	5.752000	0.49633	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1364	1763.55	134	chr15	92630245	.	C	G	1763.55	.	AC=3;AF=0.136;AN=22;BaseQRankSum=-3.598;DP=1693;ExcessHet=0.3672;FS=355.6;InbreedingCoeff=-0.23;MLEAC=4;MLEAF=0.182;MQ=60;MQRankSum=0;QD=5.62;ReadPosRankSum=1.61;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,9:103:40:0|1:92630242_C_G:40,0,3711:92630242	8	0	3	8
chr15	92630248	92630248	C	G	exonic	FAM174B	.	nonsynonymous SNV	FAM174B:NM_207446:exon2:c.G442C:p.D148H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.233	0.061949749731	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	7.525e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	0.72154	D	0.004	0.74150	D	1.0	0.90584	D	0.981	0.75168	D	0.000043	0.53742	D	0.070627	0.900708	0.50402	D	2.31	0.66127	M	0.33	0.58323	T	-5.55	0.86222	D	0.575	0.59732	-0.2875	0.75334	T	0.366	0.72628	T	10	0.7053839	0.72704	D	0.06195	0.68497	D	0.414	0.72479	0.564	0.68499	0.270889551736	0.26708	0.5128981161307481	0.51211	1.26599244295	0.82158	0.566754460335	0.48220	T	0.120299	0.44244	T	0.0290487	0.55597	T	-0.19605	0.55021	T	0.996697545051575	0.89883	D	0.909109	0.67839	D	0.73887527	0.80228	0.72065765	0.83506	0.73887527	0.80230	0.72065765	0.83507	-15.3	0.96517	D	.	.	0.796	0.77121	P	.	.	5.036038	0.83793	28.1	0.9865365078314744	0.44233	0.88917	0.49082	D	AEFGBHCI	0.873922	0.79653	D	0.477504834894099	0.65780	4.865564	0.540136420362585	0.70713	5.545969	1.0	0.98316	0.730579	0.87903	0	0.696144	0.67643	0	0.709663	0.75317	0	0.648885	0.59868	0	.	.	5.38	5.38	0.77279	7.180000	0.77215	7.433000	0.58809	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.987000	0.62547	0.0:1.0:0.0:0.0	17.872	0.88730	957	0.09725	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	1884.22	103	chr15	92630248	.	C	G	1884.22	.	AC=3;AF=0.3;AN=10;BaseQRankSum=-2.249;DP=1430;ExcessHet=0.3672;FS=362.549;InbreedingCoeff=-0.3571;MLEAC=6;MLEAF=0.6;MQ=60;MQRankSum=0;QD=5.71;ReadPosRankSum=0.973;SOR=8.254	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,9:103:40:0|1:92630242_C_G:40,0,3711:92630242	2	0	3	14
chr15	98911384	98911384	G	A	exonic	IGF1R	.	nonsynonymous SNV	IGF1R:NM_000875:exon7:c.G1532A:p.R511Q,IGF1R:NM_001291858:exon7:c.G1532A:p.R511Q	Insulin-like growth factor I, resistance to, Autosomal recessive, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	29833	IGF1R-related_disorder|not_specified|not_provided|Growth_delay_due_to_insulin-like_growth_factor_I_resistance	.|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010038,MedGen:C1849157,OMIM:270450,Orphanet:73273	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.254	0.02219603975	0.0015	0.000798722	0.0014	0.0003	0.0003	0	0.0002	0.0024	0.0022	0.0001	0.0016041	248	154602	rs33958176	0.0028	0.0028	0.0029	0.0027	0.0034	0.0027	0.0027	0.0033	0.0033	0.0002	0.0004	0.0028	0	0.0003	0.0007	0.0034	0.0027	0.0002	0.0017	0.0017	0.0018	0.0016	0.0030	0.0015	0.0015	0.0027	0.0026	0.0005	0	0.0014	0.0023	0	9.423e-05	0	0.0030	0.0014	0	0.597	0.06145	T	0.572	0.19073	T	0.188	0.36665	B	0.016	0.21085	B	0.000049	0.53742	D	0.000000	0.999848	0.49770	A	2.115	0.58683	M	-0.37	0.73949	T	-0.57	0.28906	N	0.349	0.42050	-0.6108	0.64370	T	0.226	0.59096	T	9	0.008615732	0.00195	T	0.022196	0.45064	T	0.254	0.56428	.	.	0.846087805279	0.84461	0.7290749888736927	0.72852	0.733860430023	0.62867	0.52810561657	0.42767	T	0.440796	0.78557	T	-0.203307	0.20328	T	-0.053136	0.66807	D	0.0205880874629327	0.00759	T	0.918008	0.78384	D	0.20096453	0.42090	0.14691411	0.34789	0.23413454	0.46229	0.1346258	0.32254	-7.346	0.56522	T	0.2843677419150365	0.38015	0.165	0.36436	B	.;.;.;.;.	.;.;.;.;.	4.300004	0.65647	24.9	0.99733804624893996	0.82975	0.96552	0.69711	D	AEFGBI	0.385957	0.46650	N	0.202412991127524	0.51316	3.313809	0.344738443105416	0.58190	3.988267	0.999999972204837	0.74766	0.706548	0.73137	0	0.588066	0.40923	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.67	5.67	0.87673	5.003000	0.63708	9.922000	0.82512	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.071:0.0:0.9289:0.0	14.326	0.66079	988	0.01987	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	0	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	4964.83	34	chr15	98911384	.	G	A	4964.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.2;DP=993;ExcessHet=0.119;FS=1.209;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.17;ReadPosRankSum=-0.41;SOR=0.7	GT:AD:DP:GQ:PL	0/1:80,91:171:99:2254,0,1826	17	0	2	0
chr16	377699	377699	C	G	exonic	PGAP6	.	nonsynonymous SNV	PGAP6:NM_021259:exon2:c.G271C:p.A91P	.	398	1086	36	2	0	40	0.0180832	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.011	.	0.0069	0.00379393	0.0154	0.0021	0.0153	0	0.0367	0.0191	0.0244	0.0141	0.0073802	1141	154602	rs150713114	0.0095	0.0095	0.0093	0.0097	0.0123	0.0094	0.0093	0.0117	0.0114	0.0012	0.0072	0.0352	0	0.0150	0.0120	0.0090	0.0110	0.0123	0.0074	0.0074	0.0074	0.0074	0.0100	0.0070	0.0069	0.0088	0.0085	0.0018	0	0.0082	0.0311	0	0.0104	0.0136	0.0094	0.0095	0.0100	0.369	0.11586	T	0.294	0.20745	T	0.001	0.07471	B	0.002	0.06944	B	0.197401	0.16688	N	0.566712	1	0.08975	N	-1.295	0.00719	N	1.98	0.21865	T	0.55	0.02721	N	0.085	0.06190	-0.9677	0.37673	T	0.010	0.03537	T	10	0.0029409826	0.00047	T	.	.	.	0.011	0.01250	.	.	0.0401082797425	0.02173	0.3079676341029533	0.30709	0.0497898335359	0.05457	0.269551903009	0.06083	T	0.001898	0.01308	T	-0.677833	0.00049	T	-0.736048	0.04059	T	0.000731414331925939	0.00007	T	0.424058	0.11326	T	0.023681097	0.01129	0.043248724	0.05338	0.023681097	0.01129	0.043248724	0.05338	-2.803	0.08211	T	.	.	0.059	0.00730	B	.	.	-0.578352	0.01631	0.113	0.43658381587674372	0.03302	0.00631	0.02773	N	AEFBI	0.051689	0.09157	N	-2.19746443301535	0.00078	0.003329799	-2.11476963220257	0.00173	0.007615846	0.0894516686923955	0.16085	0.706548	0.73137	0	0.643519	0.57511	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.55	-1.31	0.08749	0.711000	0.25436	1.859000	0.29309	-1.969000	0.00470	0.032000	0.20554	0.999000	0.35428	0.000000	0.00833	0.147:0.3094:0.4389:0.1047	4.711	0.12254	798	0.45050	.	.	.	.	.	.	Likely benign	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	0.011735	0.010638	0.004098	0.005952	0.000000	0.008621	0.018750	0.030534	0.02632	1627.33	96	chr16	377699	.	C	G	1627.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.091;DP=1745;ExcessHet=0;FS=6.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.23;ReadPosRankSum=0.061;SOR=1.031	GT:AD:DP:GQ:PL	0/1:62,61:123:99:1641,0,1634	18	0	1	0
chr16	666739	666739	G	A	exonic	WDR90	.	nonsynonymous SNV	WDR90:NM_145294:exon39:c.G4951A:p.V1651M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.095	0.122975252903	.	.	1.677e-05	0	0.0002	0	0	0	0	0	1.29e-05	2	154602	rs746230794	6.162e-06	6.156e-06	4.087e-06	8.258e-06	5.974e-05	2.9e-06	2.1e-06	9.89e-06	3.7e-06	5.974e-05	2.236e-05	0	0	0	0	3.597e-06	1.656e-05	1.159e-05	1.972e-05	1.97e-05	2.57e-05	1.346e-05	0.0002	5.24e-06	2.45e-06	2.261e-05	9.07e-06	0	0	0.0001	0	0	0	0	0	0	0.0002	0.051	0.41637	T	0.02	0.58613	D	0.996	0.73220	D	0.742	0.61700	P	0.689860	0.10185	U	0.837650	0.999834	0.20152	N	2.135	0.59519	M	3.34	0.67011	T	-1.25	0.40850	N	0.145	0.34874	-0.7770	0.56470	T	0.332	0.69919	T	10	0.17171967	0.31905	T	0.122975	0.80405	D	0.102	0.29158	0.527	0.63263	0.242244723065	0.23846	0.33949312622946076	0.33862	0.547044844208	0.51677	0.328972965479	0.14778	T	0.038396	0.24824	T	-0.120809	0.32992	T	-0.328445	0.41643	T	0.443010167517364	0.30540	T	0.80392	0.46649	T	0.03885748	0.05257	0.05266818	0.08721	0.03885748	0.05256	0.05266818	0.08721	-8.183	0.62310	D	.	.	0.181	0.42259	B	.;.;.;.	.;.;.;.	3.134422	0.42367	21.5	0.99573219403945501	0.72501	0.12107	0.17064	N	AEFGBI	0.124030	0.23990	N	-0.157859529637706	0.34902	1.998036	-0.364798967094195	0.26054	1.436737	0.999969004608453	0.48965	0.634777	0.41761	0	0.643519	0.57511	0	0.723109	0.80598	0	0.655142	0.61905	0	.	.	4.47	2.49	0.29274	1.723000	0.37675	1.810000	0.28954	-0.165000	0.11486	0.006000	0.17386	0.006000	0.19429	0.000000	0.00833	0.1909:0.0:0.6319:0.1771	4.527	0.11390	649	0.63102	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1272.33	80	chr16	666739	.	G	A	1272.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.29;DP=1378;ExcessHet=0;FS=3.951;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.83;ReadPosRankSum=0.563;SOR=0.448	GT:AD:DP:GQ:PL	0/1:47,45:92:99:1286,0,1182	18	0	1	0
chr16	716974	716974	G	A	exonic	METRN	.	nonsynonymous SNV	METRN:NM_024042:exon3:c.G547A:p.A183T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.056	0.00571539674708	.	.	2.762e-05	0	0	0	0	4.88e-05	0	0	3.23e-05	5	154602	rs754170916	1.449e-05	2.531e-05	8.23e-06	2.083e-05	2.529e-05	9.31e-06	7.9e-06	1.018e-05	8.4e-06	0	0	0	2.529e-05	0	0	1.629e-05	3.341e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.013	0.53900	D	0.07	0.47828	T	0.068	0.23728	B	0.014	0.16862	B	0.010445	0.29920	N	0.313360	1	0.20548	N	2.2	0.62015	M	1.57	0.29342	T	-0.54	0.18670	N	0.191	0.21056	-1.0262	0.21690	T	0.067	0.27468	T	9	0.17910671	0.33029	T	0.005715	0.14802	T	0.056	0.15993	0.446	0.50466	0.0551355673512	0.04727	0.5772410575240071	0.57653	0.556899901416	0.52327	0.476079583168	0.35518	T	0.034587	0.23434	T	-0.160333	0.26709	T	-0.398246	0.33588	T	0.378901094198227	0.28140	T	0.90091	0.76886	D	0.069902115	0.15352	0.07861754	0.17625	0.069902115	0.15352	0.07861754	0.17625	-4.745	0.33944	T	.	.	0.105	0.25785	B	.;.;.	.;.;.	2.127845	0.27087	17.34	0.98063972763152307	0.37968	0.08609	0.14514	N	AEFDBCI	0.171842	0.29884	N	-0.812018462998977	0.13002	0.6375901	-0.860518301309743	0.13034	0.6739785	0.999999634200481	0.74766	0.72623	0.87236	0	0.694456	0.67091	0	0.594344	0.31042	0	0.699875	0.68795	0	.	.	4.09	2.06	0.25932	1.812000	0.38590	1.912000	0.29653	0.675000	0.71128	0.011000	0.18532	0.120000	0.22892	0.130000	0.19568	0.2077:0.0:0.5984:0.1939	3.715	0.07964	662	0.61715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	2540.33	35	chr16	716974	.	G	A	2540.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.184;DP=851;ExcessHet=0;FS=3.037;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.94;ReadPosRankSum=0.599;SOR=0.484	GT:AD:DP:GQ:PL	0/1:55,95:150:99:2554,0,1241	18	0	1	0
chr16	1367824	1367824	A	C	exonic	UNKL	.	nonsynonymous SNV	UNKL:NM_001193389:exon4:c.T117G:p.F39L,UNKL:NM_001276414:exon4:c.T108G:p.F36L,UNKL:NM_001367622:exon4:c.T117G:p.F39L,UNKL:NM_001370526:exon4:c.T117G:p.F39L,UNKL:NM_001193388:exon13:c.T1620G:p.F540L,UNKL:NM_001372107:exon13:c.T1620G:p.F540L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.310	0.164488103893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.059	0.91255	T	0.0	0.92824	D	0.999	0.77913	D	0.997	0.86255	D	.	.	.	.	0.998769	0.45406	D	.	.	.	-0.23	0.66652	T	-4.07	0.89534	D	0.501	0.53620	-0.2873	0.75340	T	0.425	0.76910	T	9	0.35302576	0.52118	T	0.164488	0.84358	D	0.310	0.63162	0.232	0.16005	0.250579442822	0.24687	.	.	0.35949799997	0.37640	0.855580925941	0.90454	D	0.172725	0.52133	T	0.073117	0.61225	D	-0.132749	0.60741	T	0.987381994724274	0.77891	D	0.953605	0.85587	D	.	.	.	.	.	.	.	.	-7.296	0.56167	T	.	.	0.973	0.92114	P	.;.;.;.;.;.	.;.;.;.;.;.	3.141921	0.42498	21.5	0.99725509566138715	0.82336	0.68956	0.33999	D	AEFDBHCI	0.364989	0.45333	N	0.147240433242267	0.48681	3.07745	-0.00505165804969017	0.39487	2.341984	0.996710019658257	0.34950	0.67177	0.52595	0	0.702456	0.74545	0	0.723109	0.80598	0	0.699875	0.68795	0	.	.	4.96	-2.49	0.06034	0.880000	0.27798	-0.165000	0.11284	0.754000	0.88378	1.000000	0.71638	0.005000	0.19230	0.999000	0.91618	0.4987:0.0:0.5013:0.0	10.331	0.43003	846	0.36215	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1016.33	38	chr16	1367824	.	A	C	1016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=766;ExcessHet=0;FS=1.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.39;ReadPosRankSum=0.219;SOR=0.936	GT:AD:DP:GQ:PL	0/1:44,38:82:99:1030,0,1251	18	0	1	0
chr16	1397277	1397277	A	0	exonic	UNKL	.	.	.	.	28	20	70	25	83	203	0.75	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5357	10029.7	66	chr16	1397277	.	A	*	10029.7	.	AC=15;AF=0.536;AN=28;BaseQRankSum=-1.758;DP=1398;ExcessHet=0.25;FS=0;InbreedingCoeff=0.1529;MLEAC=18;MLEAF=0.643;MQ=59.46;MQRankSum=-1.388;QD=12.54;ReadPosRankSum=2.26;SOR=0.628	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:43,36:79:99:.:.:1086,0,1435:.	4	5	5	5
chr16	1397281	1397281	-	GGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	exonic	UNKL	.	frameshift insertion	UNKL:NM_001193388:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36,UNKL:NM_001372107:exon6:c.748_749insACAGCGTGAAGCACGGGGGTGGTGGGGGGAGCCAAGTCCTCTGTGTCCCCCTGACACCTCCTCATCCCCAGGTCCACGCCCTGCC:p.P250Hfs*36	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0037	0.0036	0	0	0	0.0123	0	0	.	.	.	.	0.0072	0.0076	0.0067	0.0078	0.0160	0.0071	0.0070	0.0121	0.0108	0.0013	0.0130	0.0177	4.298e-05	0.0111	0.0160	0.0069	0.0118	0.0097	0.0064	0.0087	0.0069	0.0058	0.0114	0.0059	0.0058	0.0105	0.0101	0.0016	0.0156	0.0080	0.0172	0	0.0022	0.0061	0.0114	0.0040	0.0026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05882	667.98	41	chr16	1397281	.	G	GGGCAGGGCGTGGACCTGGGGATGAGGAGGTGTCAGGGGGACACAGAGGACTTGGCTCCCCCCACCACCCCCGTGCTTCACGCTGT	667.98	.	AC=2;AF=0.059;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=2;MLEAF=0.059;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,17:53:99:.:.:1811,1135,1109:.	15	0	2	2
chr16	1397281	1397281	G	0	exonic	UNKL	.	.	.	.	375	758	197	191	1	580	0.276372	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3824	667.98	41	chr16	1397281	.	G	*	667.98	.	AC=13;AF=0.382;AN=34;DP=1054;ExcessHet=0.0009;FS=0;InbreedingCoeff=0.6222;MLEAC=14;MLEAF=0.412;MQ=59.33;QD=1.62;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,36:53:99:.:.:1811,678,1301:.	9	5	3	2
chr16	1791558	1791558	G	A	exonic	IGFALS	.	nonsynonymous SNV	IGFALS:NM_001146006:exon2:c.C974T:p.P325L,IGFALS:NM_004970:exon2:c.C860T:p.P287L	Acid-labile subunit, deficiency of	.	.	.	.	.	.	.	.	.	.	703533	not_provided|not_specified|Short_stature_due_to_primary_acid-labile_subunit_deficiency	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0014420,MedGen:C3900122,OMIM:615961,Orphanet:140941	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.084	0.0164065016574	0.0042	0.00279553	0.0051	0.0010	0.0062	0	0.0039	0.0089	0.0036	0.0004	0.0027361	423	154602	rs35706152	0.0059	0.0058	0.0060	0.0057	0.0070	0.0058	0.0057	0.0068	0.0068	0.0011	0.0041	3.931e-05	2.718e-05	0.0037	0.0002	0.0070	0.0049	0.0004	0.0042	0.0042	0.0046	0.0038	0.0069	0.0039	0.0038	0.0064	0.0062	0.0014	0	0.0046	0.0003	0	0.0031	0	0.0069	0.0043	0.0002	1.0	0.00964	T	0.653	0.06666	T	0.002	0.09854	B	0.008	0.13708	B	0.019837	0.27171	N	0.397979	0.995039	0.42516	D	-0.54	0.02511	N	1.92	0.23082	T	-0.27	0.11366	N	0.091	0.09349	-1.0069	0.27881	T	0.016	0.06521	T	10	0.009347528	0.00211	T	0.016407	0.37653	T	0.084	0.24469	.	.	0.628632071366	0.62559	0.24642960455124976	0.24556	0.0512782227325	0.05640	0.522785902023	0.42019	T	0.098532	0.40245	T	-0.557915	0.00261	T	-0.570178	0.15432	T	0.0128491033734068	0.00220	T	0.313569	0.06164	T	0.03951768	0.05473	0.050750796	0.08028	0.04320258	0.06692	0.051252533	0.08210	-3.021	0.11205	T	0.07250072454410691	0.02978	0.107	0.28057	B	.;.	.;.	2.720952	0.35591	19.94	0.69369190534290037	0.08950	0.67679	0.33520	D	AEFDBCI	0.314188	0.41912	N	-0.340715452556209	0.27615	1.516518	-0.117040289881953	0.34702	1.999207	0.999989408807702	0.51787	0.514905	0.20481	0	0.379588	0.06130	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	5.26	4.21	0.48984	4.374000	0.59312	8.397000	0.77098	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.645000	0.32557	0.3111:0.0:0.6889:0.0	4.142	0.09665	565	0.70868	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003064	0.000000	0.002762	0.002959	0.000000	0.000000	0.000000	0.003788	0.02632	1008.33	34	chr16	1791558	.	G	A	1008.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.01;DP=1001;ExcessHet=0;FS=1.79;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=1.48;SOR=0.601	GT:AD:DP:GQ:PL	0/1:46,37:83:99:1022,0,1278	18	0	1	0
chr16	2090293	2090293	C	T	exonic	PKD1	.	nonsynonymous SNV	PKD1:NM_000296:exon45:c.G12433A:p.V4145I,PKD1:NM_001009944:exon45:c.G12436A:p.V4146I	Polycystic kidney disease, adult type I, Autosomal dominant	0	1451	67	4	0	75	0.0251931	.	.	.	255509	Polycystic_kidney_disease,_adult_type|Polycystic_kidney_disease|not_provided|not_specified	MONDO:MONDO:0008263,MedGen:C3149841,OMIM:173900|Human_Phenotype_Ontology:HP:0000113,Human_Phenotype_Ontology:HP:0004716,Human_Phenotype_Ontology:HP:0004739,Human_Phenotype_Ontology:HP:0004740,Human_Phenotype_Ontology:HP:0008645,Human_Phenotype_Ontology:HP:0008673,Human_Phenotype_Ontology:HP:0008699,MONDO:MONDO:0020642,MeSH:D007690,MedGen:C0022680,OMIM:PS173900|MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.072	0.0451531310905	0.0032	0.00339457	0.0048	0.0005	0.0035	0.0001	0.0056	0.0053	0.0080	0.0088	0.0044049	681	154602	rs148478410	0.0038	0.0038	0.0036	0.0041	0.0175	0.0038	0.0037	0.0148	0.0137	0.0007	0.0028	0.0022	0	0.0053	0.0175	0.0036	0.0045	0.0083	0.0033	0.0033	0.0037	0.0029	0.0064	0.0031	0.0030	0.0050	0.0048	0.0006	0	0.0016	0.0020	0.0004	0.0022	0	0.0055	0.0066	0.0064	0.163	0.23541	T	0.034	0.52727	D	0.972	0.61912	D	0.633	0.62418	P	0.075110	0.21243	N	0.475314	0.965042	0.25955	N	2.6	0.76081	M	1.31	0.35405	T	-0.76	0.21215	N	0.806	0.80180	-0.9105	0.46793	T	0.144	0.46587	T	10	0.010210127	0.00228	T	0.045153	0.61843	D	0.072	0.21020	.	.	0.783245712702	0.78124	0.2612534345992779	0.26038	.	.	0.55258089304	0.46222	T	0.239847	0.60805	T	-0.541596	0.00328	T	-0.544627	0.17844	T	0.0181758844097079	0.00538	T	0.836316	0.50742	T	0.2944897	0.52406	0.09615326	0.22835	0.29896998	0.52812	0.08810598	0.20521	-5.215	0.39094	T	0.5661712876178673	0.63361	0.221	0.45199	B	.;.	.;.	3.833642	0.55435	23.6	0.99708122681245359	0.81143	0.84668	0.43753	D	AEFDBCI	0.397753	0.47370	N	0.423190931841611	0.62700	4.490252	0.380317644411658	0.60350	4.221811	0.999999840776265	0.74766	0.741868	0.97996	0	0.702456	0.74545	0	0.774882	0.98623	0	0.562822	0.20929	0	.	.	4.02	4.02	0.45968	2.770000	0.47346	7.502000	0.59501	0.465000	0.21702	0.997000	0.40164	1.000000	0.68203	0.994000	0.71098	0.0:1.0:0.0:0.0	16.309	0.82694	774	0.48577	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.014099	0.000000	0.016349	0.005848	0.050000	0.025862	0.024390	0.015152	0.02632	2210.33	35	chr16	2090293	.	C	T	2210.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.155;DP=1047;ExcessHet=0;FS=8.404;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.69;ReadPosRankSum=-0.093;SOR=1.154	GT:AD:DP:GQ:PL	0/1:96,93:189:99:2224,0,2339	18	0	1	0
chr16	3484831	3484831	C	G	exonic	NAA60	.	nonsynonymous SNV	NAA60:NM_001317096:exon5:c.C478G:p.H160D,NAA60:NM_001317097:exon5:c.C407G:p.A136G,NAA60:NM_001317098:exon5:c.C407G:p.A136G	.	415	1056	47	4	0	55	0.0253807	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	.	0.0061	0.00519169	0.0140	0.0024	0.0087	0	0.0227	0.0175	0.0087	0.0133	0.0058537	905	154602	rs17793994	0.0087	0.0087	0.0085	0.0090	0.0111	0.0086	0.0086	0.0105	0.0103	0.0014	0.0038	0.0118	5.464e-05	0.0095	0.0103	0.0091	0.0083	0.0111	0.0072	0.0072	0.0067	0.0077	0.0135	0.0068	0.0067	0.0108	0.0099	0.0017	0.0143	0.0035	0.0084	0.0006	0.0119	0	0.0106	0.0071	0.0135	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	-2.4	0.52776	N	0.441	0.47949	-0.7027	0.60309	T	0.178	0.52381	T	5	0.0051259995	0.00111	T	.	.	.	0.232	0.53354	.	.	0.082315109003	0.07666	.	.	.	.	.	.	.	.	.	.	-0.481957	0.00720	T	-0.454687	0.27180	T	0.0682118217340819	0.08399	T	0.30127	0.05674	T	.	.	.	.	.	.	.	.	-3.817	0.21059	T	.	.	0.156	0.34602	B	.	.	1.187958	0.15789	12.10	0.99286555919033248	0.58113	0.91750	0.54184	D	AEFBCI	0.375027	0.45971	N	0.254229443074431	0.53848	3.552079	0.312216166203192	0.56258	3.78877	0.866369319914896	0.25327	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.84	3.79	0.42757	3.250000	0.51146	.	.	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.952000	0.50033	0.1447:0.6403:0.1399:0.0751	5.546	0.16353	630	0.65016	.	DNASE1	Brain_Cerebellum	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.010142	0.005051	0.012329	0.005882	0.050000	0.000000	0.018519	0.011364	0.05263	2372.83	38	chr16	3484831	.	C	G	2372.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.718;DP=893;ExcessHet=0.119;FS=1.602;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.32;ReadPosRankSum=-0.217;SOR=0.818	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1379,0,1383	17	0	2	0
chr16	3781229	3781229	G	T	exonic	CREBBP	.	nonsynonymous SNV	CREBBP:NM_001079846:exon6:c.C1537A:p.L513I,CREBBP:NM_004380:exon7:c.C1651A:p.L551I	Rubinstein-Taybi syndrome 1, Autosomal dominant	1	1445	71	5	0	81	0.0272635	.	.	YES	100926	Rubinstein-Taybi_syndrome|not_provided|Inborn_genetic_diseases|not_specified	MONDO:MONDO:0019188,MedGen:C0035934,OMIM:PS180849,Orphanet:783|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.382	.	0.0087	0.00638978	0.0100	0.0019	0.0047	0.0178	0.0021	0.0117	0.0188	0.0106	0.009366	1448	154602	rs61753381	0.0099	0.0100	0.0097	0.0102	0.0370	0.0098	0.0098	0.0329	0.0313	0.0019	0.0055	0.0583	0.0236	0.0019	0.0370	0.0087	0.0137	0.0113	0.0076	0.0076	0.0077	0.0076	0.0129	0.0073	0.0071	0.0104	0.0095	0.0017	0	0.0086	0.0617	0.0129	0.0012	0.0340	0.0084	0.0128	0.0114	0.052	0.39575	T	0.302	0.21144	T	0.604	0.39417	P	0.369	0.43514	B	0.000003	0.62929	D	0.000000	0.99998	0.54805	D	1.225	0.30651	L	-1.75	0.83578	D	-1.15	0.30140	N	0.233	0.26233	-0.2255	0.77006	T	0.400	0.75166	T	10	0.007070422	0.00161	T	.	.	.	0.382	0.69946	.	.	.	.	0.19137380748694238	0.19055	1.331011174	0.83652	0.601731181145	0.53148	T	0.473339	0.80524	T	-0.233667	0.16167	T	-0.0947976	0.63798	T	0.0174632381218672	0.00482	T	0.791621	0.43272	T	0.20917833	0.43177	0.17703225	0.40277	0.20866819	0.43111	0.17703225	0.40276	-4.376	0.29230	T	0.2561851620090893	0.34633	0.087	0.15206	B	.;.;.	.;.;.	4.105940	0.61261	24.3	0.93890401688013392	0.23914	0.96778	0.70889	D	AEFBI	0.617639	0.60374	D	0.271685724131068	0.54720	3.636797	0.373597985528741	0.59941	4.176549	0.999998223959344	0.74766	0.732398	0.92422	0	0.724815	0.89359	0	0.743671	0.96076	0	0.727631	0.95156	0	.	.	5.49	5.49	0.81022	5.816000	0.68900	.	.	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.876000	0.41813	0.0:0.0:1.0:0.0	19.361	0.94429	580	0.69689	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.033736	0.010101	0.029891	0.058480	0.050000	0.060345	0.039634	0.022727	0.02632	2109.33	35	chr16	3781229	.	G	T	2109.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.157;DP=841;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=-1.718;SOR=0.651	GT:AD:DP:GQ:PL	0/1:102,87:189:99:2123,0,2505	18	0	1	0
chr16	4364800	4364800	G	A	exonic	CORO7;CORO7-PAM16	.	nonsynonymous SNV	CORO7:NM_001201473:exon10:c.C764T:p.P255L,CORO7:NM_001201472:exon12:c.C965T:p.P322L,CORO7-PAM16:NM_001201479:exon12:c.C1019T:p.P340L,CORO7:NM_001351729:exon12:c.C359T:p.P120L,CORO7:NM_024535:exon12:c.C1019T:p.P340L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.478	0.1117313811	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.999	0.92359	D	0.278727	0.03819	N	1.604400	1	0.81001	D	3.665	0.94315	H	1.32	0.35219	T	-9.52	0.98467	D	0.842	0.92200	-0.6720	0.61738	T	0.376	0.73416	T	10	0.95622563	0.94987	D	0.111731	0.78962	D	0.478	0.76946	0.829	0.93915	0.715788697665	0.71329	0.7381200659588484	0.73757	0.490814274517	0.47791	0.594163775444	0.52081	T	0.15677	0.49908	T	0.231887	0.76899	D	0.0953125	0.76598	D	0.999720990657806	0.98678	D	.	.	.	0.12260932	0.28809	0.14834444	0.35071	0.12260932	0.28808	0.14834444	0.35070	-10.464	0.76640	D	.	.	0.331	0.59319	B	.;.;.;.;.	.;.;.;.;.	4.179717	0.62914	24.5	0.99913068335945643	0.98167	0.99557	0.97415	D	AEFBI	0.963580	0.98551	D	0.897357783830888	0.91629	10.98143	0.827238490703855	0.91618	10.97983	0.999999999985666	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.31	5.31	0.75063	9.544000	0.97191	11.683000	0.94248	0.667000	0.69007	1.000000	0.71638	1.000000	0.68203	0.720000	0.34772	0.0:0.0:1.0:0.0	18.573	0.91097	803	0.44167	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1959.33	41	chr16	4364800	.	G	A	1959.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.96;DP=1463;ExcessHet=0;FS=2.147;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14;ReadPosRankSum=-1.101;SOR=0.518	GT:AD:DP:GQ:PL	0/1:67,73:140:99:1973,0,1584	18	0	1	0
chr16	4506948	4506948	G	A	exonic	HMOX2	.	nonsynonymous SNV	HMOX2:NM_001286271:exon2:c.G53A:p.R18Q,HMOX2:NM_001127205:exon3:c.G140A:p.R47Q,HMOX2:NM_001127206:exon3:c.G140A:p.R47Q,HMOX2:NM_001286268:exon3:c.G140A:p.R47Q,HMOX2:NM_002134:exon3:c.G140A:p.R47Q,HMOX2:NM_001127204:exon4:c.G140A:p.R47Q,HMOX2:NM_001286267:exon4:c.G302A:p.R101Q,HMOX2:NM_001286269:exon4:c.G140A:p.R47Q,HMOX2:NM_001286270:exon5:c.G140A:p.R47Q	.	420	1101	1	0	0	1	0.000453926	.	.	.	2455414	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.017	0.0069891893718	.	.	2.471e-05	0	0	0	0	2.997e-05	0	6.056e-05	1.94e-05	3	154602	rs150902900	1.573e-05	1.573e-05	1.225e-05	1.925e-05	8.961e-05	1.048e-05	8.75e-06	2.375e-05	1.258e-05	8.961e-05	0	0	0	0	0	1.529e-05	0	3.478e-05	2.63e-05	2.627e-05	5.14e-05	0	4.828e-05	8.14e-06	5.14e-06	8e-06	2.99e-06	4.828e-05	0	0	0	0	0	0	2.94e-05	0	0	0.671	0.04548	T	0.421	0.19845	T	0.138	0.27452	B	0.033	0.22329	B	0.006916	0.31720	N	0.384614	0.996897	0.43488	D	0.785	0.19527	N	1.97	0.22067	T	-0.22	0.10480	N	0.076	0.05287	-1.0109	0.26635	T	0.027	0.11485	T	10	0.113119304	0.21241	T	0.006989	0.18513	T	0.017	0.02790	0.431	0.48007	0.156986980423	0.15292	0.41470617859219433	0.41386	0.138923697287	0.15665	0.254099100828	0.04212	T	0.161155	0.50530	T	-0.457033	0.01025	T	-0.614838	0.11596	T	0.0418931984991608	0.04035	T	0.90041	0.65400	D	0.109844655	0.25967	0.09403748	0.22242	0.109844655	0.25966	0.09403748	0.22241	-5.215	0.39094	T	.	.	0.106	0.19839	B	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	2.330711	0.29859	18.26	0.95846982066487951	0.27981	0.69309	0.34137	D	AEFBCI	0.364651	0.45311	N	-0.739718338842561	0.14913	0.7470584	-0.603618262624662	0.19400	1.040658	0.999461080686817	0.39843	0.722319	0.85440	0	0.698795	0.70079	0	0.635938	0.45252	0	0.711	0.71501	0	.	.	5.54	-0.0325	0.13232	0.886000	0.27878	4.588000	0.43946	-0.244000	0.07312	0.997000	0.40164	1.000000	0.68203	0.945000	0.48827	0.3673:0.0:0.6327:0.0	9.693	0.39304	506	0.75555	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1677.33	41	chr16	4506948	.	G	A	1677.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.36;DP=778;ExcessHet=0;FS=3.054;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.24;ReadPosRankSum=-0.493;SOR=0.48	GT:AD:DP:GQ:PL	0/1:71,66:137:99:1691,0,1625	18	0	1	0
chr16	9938544	9938544	G	A	exonic	GRIN2A	.	nonsynonymous SNV	GRIN2A:NM_001134407:exon3:c.C422T:p.T141M,GRIN2A:NM_001134408:exon3:c.C422T:p.T141M,GRIN2A:NM_000833:exon4:c.C422T:p.T141M	Epilepsy, focal, with speech disorder and with or without mental retardation, Autosomal dominant	1	1518	2	0	1	3	0.000658328	.	.	.	203374	not_provided|Inborn_genetic_diseases|GRIN2A-related_disorder|Landau-Kleffner_syndrome|not_specified	MedGen:C3661900|MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0009509,MedGen:C0282512,OMIM:245570,Orphanet:1945,Orphanet:725,Orphanet:98818|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.185	0.231731407444	0.0011	0.000599042	0.0011	0.0001	0.0007	0	0	0.0015	0	0.0012	0.0010737	166	154602	rs78631453	0.0016	0.0016	0.0015	0.0016	0.0018	0.0015	0.0015	0.0017	0.0017	0.0002	0.0006	0.0037	0	0.0003	0.0005	0.0018	0.0011	0.0012	0.0009	0.0009	0.0010	0.0009	0.0016	0.0008	0.0008	0.0013	0.0013	0.0002	0	0.0001	0.0040	0	0.0003	0	0.0016	0	0.0012	0.206	0.21066	T	0.289	0.31427	T	0.016	0.17332	B	0.01	0.14941	B	0.000831	0.41547	N	0.287086	1	0.81001	D	-1.04	0.01097	N	-1.6	0.82165	D	-0.87	0.23590	N	0.234	0.26354	-1.0037	0.28844	T	0.136	0.45126	T	9	0.008182764	0.00186	T	0.231731	0.88289	D	0.185	0.45933	.	.	0.642405806142	0.63945	0.605003862362036	0.60431	0.645072804293	0.57977	0.262629628181	0.05207	T	0.311047	0.68296	T	-0.423554	0.01624	T	-0.383604	0.35300	T	0.00499161585346308	0.00054	T	0.821218	0.52437	T	0.03151473	0.03006	0.045313235	0.06070	0.035295565	0.04125	0.042294063	0.05003	-4.741	0.33896	T	0.13974314826536385	0.15579	0.082	0.09578	B	.;.;.;.;.	.;.;.;.;.	2.228278	0.28446	17.80	0.86104735373430785	0.16316	0.76323	0.37423	D	AEFBI	0.163829	0.29015	N	-0.751373177058921	0.14596	0.7284039	-0.564894706465161	0.20410	1.099559	2.37517155559102E-5	0.03498	0.553676	0.25195	0	0.547309	0.14657	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	5.48	1.61	0.22752	2.869000	0.48142	4.422000	0.43319	-0.113000	0.14837	0.991000	0.37257	1.000000	0.68203	0.850000	0.40195	0.5279:0.0:0.4721:0.0	5.933	0.18388	868	0.31772	Receptor, ligand binding region;Receptor, ligand binding region;.;Receptor, ligand binding region;Receptor, ligand binding region	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	687.33	40	chr16	9938544	.	G	A	687.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.977;DP=687;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.27;ReadPosRankSum=1.82;SOR=0.551	GT:AD:DP:GQ:PL	0/1:22,23:45:99:701,0,647	18	0	1	0
chr16	12051951	12051951	A	T	exonic	SNX29	.	nonsynonymous SNV	SNX29:NM_001376490:exon8:c.A853T:p.T285S,SNX29:NM_032167:exon8:c.A853T:p.T285S	.	420	1093	9	0	0	9	0.00410023	.	.	.	2807650	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.047	0.0155961869756	0.0025	0.00159744	0.0021	0.0007	0.0012	0	0.0006	0.0031	0	0.0013	0.0022121	342	154602	rs150300274	0.0036	0.0036	0.0036	0.0036	0.0069	0.0035	0.0035	0.0052	0.0046	0.0007	0.0021	3.827e-05	0	0.0003	0.0069	0.0043	0.0037	0.0012	0.0027	0.0027	0.0027	0.0026	0.0044	0.0024	0.0024	0.0040	0.0038	0.0007	0	0.0039	0	0	9.439e-05	0	0.0044	0.0048	0.0010	0.561	0.06361	T	0.663	0.06448	T	.	.	.	.	.	.	0.822657	0.09166	N	0.916732	0.999995	0.08975	N	.	.	.	0.9	0.45248	T	-0.58	0.17417	N	0.123	0.11483	-1.0427	0.16503	T	0.095	0.35818	T	7	0.004095137	0.00080	T	0.015596	0.36422	T	.	.	.	.	0.148003135375	0.14442	0.13629651383783775	0.13553	.	.	0.341780364513	0.16705	T	0.014162	0.12111	T	-0.626108	0.00101	T	-0.671733	0.07498	T	0.0039223764210912	0.00042	T	0.521748	0.17009	T	0.021301692	0.00725	0.022389593	0.00264	0.021301692	0.00725	0.022389593	0.00264	-2.559	0.06198	T	.	.	0.078	0.06990	B	.	.	0.384214	0.07562	4.214	0.69453264909579915	0.08977	0.24477	0.22406	N	AEFBI	0.047925	0.08123	N	-0.840952613823748	0.12273	0.5972382	-0.910882368747541	0.11837	0.6054806	0.00154831679957211	0.08631	0.706548	0.73137	0	0.724815	0.89359	0	0.658983	0.55881	0	0.635551	0.53088	0	.	.	5.91	-0.571	0.11161	1.695000	0.37381	1.784000	0.28742	-0.140000	0.12423	0.505000	0.26994	0.489000	0.25143	0.276000	0.23917	0.3717:0.4927:0.1356:0.0	7.782	0.28235	783	0.47268	.	.	.	.	.	.	Likely benign	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	0.002969	0.000000	0.002740	0.008621	0.000000	0.000000	0.003759	0.004202	0.02632	1490.33	40	chr16	12051951	.	A	T	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.179;DP=799;ExcessHet=0;FS=0.678;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=1.05;QD=12.22;ReadPosRankSum=-0.474;SOR=0.814	GT:AD:DP:GQ:PL	0/1:59,63:122:99:1504,0,1491	18	0	1	0
chr16	12705045	12705045	C	A	exonic	CPPED1	.	nonsynonymous SNV	CPPED1:NM_018340:exon3:c.G294T:p.K98N	.	428	1078	15	1	0	17	0.00782329	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.054	0.0127190188886	0.0015	0.000399361	0.0016	0.0003	0.0009	0	0	0.0015	0.0048	0.0056	0.00152	235	154602	rs202086201	0.0019	0.0019	0.0017	0.0020	0.0049	0.0018	0.0018	0.0046	0.0044	0.0003	0.0007	0.0040	2.53e-05	7.536e-05	0.0039	0.0018	0.0018	0.0049	0.0010	0.0010	0.0011	0.0010	0.0048	0.0009	0.0009	0.0033	0.0028	0.0001	0	0.0008	0.0032	0	0	0	0.0015	0.0024	0.0048	0.5	0.07746	T	0.459	0.12632	T	0.002	0.09854	B	0.026	0.20792	B	0.052743	0.22868	N	0.525817	1	0.08975	N	0.345	0.11182	N	-0.34	0.68474	T	0.21	0.04776	N	0.21	0.23380	-1.0138	0.25720	T	0.073	0.29419	T	10	0.007684499	0.00175	T	0.012719	0.31538	T	0.054	0.15330	0.339	0.32979	0.166414681773	0.16258	0.3220683058182097	0.32119	0.0593736532177	0.06593	0.248930960894	0.03655	T	0.053454	0.29448	T	-0.597813	0.00150	T	-0.631501	0.10301	T	0.00529313091275535	0.00057	T	0.672333	0.28093	T	0.058870483	0.11895	0.034599736	0.02555	0.058870483	0.11895	0.034599736	0.02555	-4.214	0.26954	T	.	.	0.168	0.37063	B	.	.	0.108745	0.05085	1.623	0.59658119888000238	0.06276	0.04133	0.09614	N	AEFBI	0.072485	0.14468	N	-1.48074510491322	0.01986	0.08722397	-1.50994360474112	0.02267	0.1040074	0.0115164754669255	0.12196	0.706298	0.61202	0	0.709663	0.81188	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.7	-6.0	0.02021	-0.836000	0.04489	-2.700000	0.03453	-0.207000	0.08511	0.000000	0.06391	0.000000	0.08366	0.056000	0.15673	0.2611:0.1658:0.1926:0.3804	0.392	0.00383	964	0.07719	Calcineurin-like phosphoesterase domain, ApaH 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	0.002518	0.010101	0.001359	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	985.33	33	chr16	12705045	.	C	A	985.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.657;DP=699;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.88;ReadPosRankSum=-0.19;SOR=0.683	GT:AD:DP:GQ:PL	0/1:34,37:71:99:999,0,974	18	0	1	0
chr16	14582206	14582206	G	C	exonic	PARN	.	nonsynonymous SNV	PARN:NM_001242992:exon16:c.C1029G:p.C343W,PARN:NM_001134477:exon17:c.C984G:p.C328W,PARN:NM_002582:exon17:c.C1167G:p.C389W	Dyskeratosis congenita, autosomal recessive 6, Autosomal recessive;Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.641	0.443768951762	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0007	0.0022	0.0008	0.0006	0.0009	0.0007	0.0007	0.0008	0.0008	0.0005	4.476e-05	0.0001	0.0003	0	0.0002	0.0009	0.0006	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.815	0.81989	M	1.91	0.47477	T	-9.08	0.98168	D	0.906	0.93370	-0.6388	0.63197	T	0.257	0.62766	T	10	0.95576084	0.94937	D	0.443769	0.94214	D	0.641	0.86333	0.808	0.92512	0.389283895039	0.38539	0.7594861977466015	0.75896	0.721414007513	0.62234	0.886558771133	0.94825	D	0.366013	0.73134	T	0.23211	0.76920	D	0.0956334	0.76619	D	0.997612833976746	0.91988	D	0.970303	0.89317	D	0.96886563	0.98153	0.88045895	0.93594	0.96886563	0.98153	0.88045895	0.93594	-17.118	0.99008	D	.	.	0.999	0.98765	P	.;.;.;.	.;.;.;.	3.616746	0.51161	23.1	0.9928480025877614	0.58043	0.87022	0.46439	D	AEFBI	0.686411	0.64809	D	0.0378907468480801	0.43587	2.648657	-0.0492109747885764	0.37524	2.19827	0.0661472356186695	0.15384	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.81	0.019	0.13441	0.292000	0.18766	1.715000	0.28221	-0.681000	0.04224	0.982000	0.35529	1.000000	0.68203	0.977000	0.56843	0.4191:0.0:0.5809:0.0	11.520	0.49794	731	0.54177	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3947	3525.85	234	chr16	14582206	.	G	C	3525.85	.	AC=15;AF=0.395;AN=38;BaseQRankSum=-2.534;DP=3197;ExcessHet=20.8569;FS=372.816;InbreedingCoeff=-0.6523;MLEAC=15;MLEAF=0.395;MQ=60;MQRankSum=0;QD=1.44;ReadPosRankSum=1.41;SOR=13.96	GT:AD:DP:GQ:PL	0/1:93,66:159:99:296,0,1346	4	0	15	0
chr16	14667708	14667711	CCCC	-	exonic	BFAR	.	frameshift deletion	BFAR:NM_001330500:exon6:c.859_862del:p.P287Sfs*45,BFAR:NM_016561:exon8:c.1234_1237del:p.P412Sfs*45	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2105	1416.55	75	chr16	14667707	.	GCCCC	G	1416.55	.	AC=8;AF=0.211;AN=38;BaseQRankSum=-0.548;DP=1073;ExcessHet=4.0268;FS=83.656;InbreedingCoeff=-0.2788;MLEAC=8;MLEAF=0.211;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=0.47;SOR=9.431	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:99:0|1:14667707_GCCCC_G:333,0,2528:14667707	11	0	8	0
chr16	14667711	14667711	-	TGGG	exonic	BFAR	.	frameshift insertion	BFAR:NM_001330500:exon6:c.862_863insTGGG:p.I289Gfs*18,BFAR:NM_016561:exon8:c.1237_1238insTGGG:p.I414Gfs*18	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	1294.52	71	chr16	14667711	.	C	CTGGG	1294.52	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-0.478;DP=1124;ExcessHet=4.0268;FS=78.34;InbreedingCoeff=-0.2788;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=2.06;ReadPosRankSum=0.638;SOR=9.332	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,18:84:99:0|1:14667707_GCCCC_G:333,0,2528:14667707	16	0	3	0
chr16	14725929	14725929	A	G	exonic	NPIPA2;NPIPA3	.	nonsynonymous SNV	NPIPA3:NM_001277323:exon8:c.A689G:p.Y230C,NPIPA2:NM_001277324:exon8:c.A689G:p.Y230C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.083	0.00827337580303	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1299805043	0.0005	0.0010	0.0006	0.0005	0.0009	0.0005	0.0004	0.0006	0.0005	8.699e-05	0.0009	0	0.0002	0.0044	0.0006	0.0002	0.0004	0.0001	0.0003	0.0004	0.0001	0.0004	0.0003	0.0002	0.0001	9.206e-05	5.54e-05	0	0	0	0	0	0.0038	0	0.0003	0.0024	0	0.074	0.34800	T	0.091	0.41239	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	1.04	0.26193	L	0.45	0.56446	T	-5.15	0.83357	D	0.106	0.10056	-0.9979	0.30507	T	0.096	0.36185	T	8	0.15152997	0.28640	T	0.008273	0.21903	T	0.083	0.24192	0.755	0.88484	0.156986980423	0.15292	0.015506281202926301	0.01506	.	.	.	.	.	0.075955	0.35303	T	-0.291105	0.09525	T	-0.655928	0.08545	T	0.0918252496806488	0.11432	T	0.732627	0.34815	T	0.20463446	0.42580	0.2767948	0.53627	0.20463446	0.42580	0.2767948	0.53626	-3.251	0.13114	T	.	.	0.198	0.42067	B	.;.	.;.	0.143692	0.05369	1.853	0.27413583510277256	0.01360	0.00063	0.00458	N	AEFI	0.018832	0.00602	N	-1.19712075733494	0.05044	0.2290148	-1.34101504802424	0.03912	0.1834952	1.3741280706041E-6	0.01202	0.693126	0.56070	0	0.659464	0.62310	0	0.659464	0.59346	0	0.668105	0.65232	0	.	.	0.659	-1.15	0.09211	-1.081000	0.03514	-3.102000	0.03059	-0.277000	0.06564	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	.	.	.	670	0.60992	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	95.54	26	chr16	14725929	.	A	G	95.54	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.69;DP=298;ExcessHet=0;FS=0;InbreedingCoeff=-0.0352;MLEAC=1;MLEAF=0.026;MQ=23.68;MQRankSum=0.086;QD=4.78;ReadPosRankSum=-0.33;SOR=0.197	GT:AD:DP:GQ:PL	0/1:14,6:20:99:109,0,332	18	0	1	0
chr16	15740124	15740124	G	A	exonic	MYH11	.	nonsynonymous SNV	MYH11:NM_002474:exon23:c.C2924T:p.T975M,MYH11:NM_022844:exon23:c.C2924T:p.T975M,MYH11:NM_001040113:exon24:c.C2945T:p.T982M,MYH11:NM_001040114:exon24:c.C2945T:p.T982M	Aortic aneurysm, familial thoracic 4, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	538093	Aortic_aneurysm,_familial_thoracic_4|Visceral_myopathy_2|Megacystis-microcolon-intestinal_hypoperistalsis_syndrome_2|Connective_tissue_disorder|MYH11-related_disorder|Familial_thoracic_aortic_aneurysm_and_aortic_dissection	MONDO:MONDO:0007568,MedGen:C1851504,OMIM:132900|MONDO:MONDO:0859157,MedGen:C5543466,OMIM:619350|MONDO:MONDO:0025708,MedGen:C5543476,OMIM:619351|MONDO:MONDO:0003900,MedGen:C0009782|.|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.544	0.34474033221	.	.	8.236e-06	0	0	0	0	1.498e-05	0	0	6.5e-06	1	154602	rs763795192	1.094e-05	1.094e-05	1.089e-05	1.1e-05	0.0002	6.48e-06	5.24e-06	9.89e-06	3.88e-06	5.974e-05	0	0	0	0	0.0002	9.892e-06	1.656e-05	1.159e-05	3.286e-05	3.284e-05	3.853e-05	2.691e-05	0.0002	1.261e-05	7.98e-06	8e-06	2.99e-06	4.827e-05	0	0	0	0.0002	0	0	2.94e-05	0	0	0.002	0.72154	D	0.004	0.74150	D	0.964	0.55854	D	0.77	0.56828	P	0.033733	0.24861	N	0.418766	0.999769	0.48888	D	2.845	0.82663	M	-0.76	0.73417	T	-3.52	0.68412	D	0.301	0.35620	0.195	0.85830	D	0.527	0.82389	D	10	0.43032354	0.57447	T	0.34474	0.92110	D	0.544	0.81018	0.326	0.30873	0.681506863636	0.67879	0.2754952731888177	0.27462	0.520677912175	0.49859	0.621449708939	0.55934	T	0.719614	0.92065	D	-0.0959989	0.37087	T	-0.0962371	0.63688	T	0.77514374256134	0.44751	D	0.90371	0.66210	D	0.17077819	0.37672	0.32076684	0.58029	0.17077819	0.37672	0.32076684	0.58029	-8.721	0.67626	D	.	.	0.170	0.46203	B	.;.;.;.	.;.;.;.	4.701753	0.75451	26.3	0.99821537402461513	0.90414	0.97738	0.76776	D	AEFDGBI	0.875514	0.79897	D	0.653418977002224	0.76593	6.514718	0.601055623922103	0.75017	6.236633	0.999551605264585	0.40362	0.554377	0.28877	0	0.59043	0.45803	0	0.602189	0.34648	0	0.613276	0.41899	0	.	.	4.28	4.28	0.50183	7.848000	0.85199	9.737000	0.81421	0.633000	0.51936	1.000000	0.71638	1.000000	0.68203	0.377000	0.26268	0.0:0.0:1.0:0.0	15.751	0.77750	341	0.85936	.;.;Myosin tail;Myosin tail	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1373.33	33	chr16	15740124	.	G	A	1373.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.956;DP=765;ExcessHet=0;FS=2.264;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.65;ReadPosRankSum=1.57;SOR=0.483	GT:AD:DP:GQ:PL	0/1:70,59:129:99:1387,0,1650	18	0	1	0
chr16	21403839	21403839	C	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	828	692	1	1	0	3	0.00216294	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.112	0.000905793106543	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1368710597	0.0013	0.0031	0.0012	0.0014	0.0045	0.0011	0.0011	0.0023	0.0020	0.0045	0.0007	0	0.0003	0.0052	0	0.0011	0.0009	0.0029	0	0.0022	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	53.47	4	chr16	21403839	.	C	A	53.47	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.967;DP=152;ExcessHet=0;FS=4.771;InbreedingCoeff=0.127;MLEAC=1;MLEAF=0.028;MQ=29.58;MQRankSum=-0.967;QD=17.82;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:21403839_C_A:66,0,36:21403839	17	0	1	1
chr16	21403840	21403840	C	A	exonic	NPIPB3	.	unknown	UNKNOWN	.	868	652	1	1	0	3	0.00229533	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	0.000718651381275	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1221343527	0.0029	0.0042	0.0026	0.0031	0.0092	0.0026	0.0025	0.0058	0.0049	0.0092	0.0017	0.0017	0.0013	0.0065	0	0.0024	0.0017	0.0062	0	0.0031	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.03571	55.04	4	chr16	21403840	.	C	A	55.04	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-0.967;DP=147;ExcessHet=0;FS=4.771;InbreedingCoeff=0.0171;MLEAC=1;MLEAF=0.036;MQ=29.58;MQRankSum=-0.967;QD=18.35;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:21403839_C_A:66,0,36:21403839	13	0	1	5
chr16	21403841	21403841	C	T	exonic	NPIPB3	.	unknown	UNKNOWN	.	887	633	1	1	0	3	0.00236407	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1305431311	0.0029	0.0040	0.0026	0.0031	0.0076	0.0026	0.0025	0.0061	0.0057	0.0076	0.0020	0.0018	0.0014	0.0050	0	0.0023	0.0014	0.0071	0	0.0033	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02778	53.81	4	chr16	21403841	.	C	T	53.81	.	AC=1;AF=0.028;AN=36;BaseQRankSum=-0.967;DP=148;ExcessHet=0;FS=4.771;InbreedingCoeff=0.0816;MLEAC=1;MLEAF=0.028;MQ=29.58;MQRankSum=-0.967;QD=17.94;ReadPosRankSum=0.967;SOR=2.225	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:1,2:3:36:0|1:21403839_C_A:66,0,36:21403839	17	0	1	1
chr16	21404236	21404236	C	-	splicing	NPIPB3	NM_130464:exon10:c.1691+1G>-;NM_130464:exon11:c.1692-1G>-	.	.	.	1479	15	0	28	0	56	0.651163	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	.	.	.	.	0	.	.	0.0004528	70	154602	rs767458164	0.3333	0.0001	1.0000	0	0.5000	0.0592	0.0248	0.0888	0.0371	.	0.5000	.	.	.	.	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	118.76	5	chr16	21404235	.	GC	G	118.76	.	AC=2;AF=1;AN=2;DP=27;ExcessHet=0;FS=0;InbreedingCoeff=0.3644;MLEAC=6;MLEAF=1;MQ=22;QD=27.39;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,3:3:9:112,9,0	0	1	0	18
chr16	21799684	21799684	T	C	exonic	RRN3	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1414525159	6.059e-06	5.261e-06	0	1.13e-05	0.0005	1.61e-06	4.5e-07	1.14e-06	4.3e-07	0	0	0	0	0	0.0005	6.84e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	137.33	36	chr16	21799684	.	T	C	137.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.794;DP=492;ExcessHet=0;FS=2.105;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=27.1;MQRankSum=0.315;QD=6.24;ReadPosRankSum=-1.939;SOR=1.536	GT:AD:DP:GQ:PL	0/1:15,7:22:99:151,0,370	18	0	1	0
chr16	28101678	28101678	C	T	exonic	XPO6	.	nonsynonymous SNV	XPO6:NM_015171:exon23:c.G3056A:p.R1019Q,XPO6:NM_001270940:exon24:c.G3014A:p.R1005Q	.	411	1104	7	0	0	7	0.00316027	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.142	0.0143823584698	0.0011	0.000599042	0.0011	0.0003	8.851e-05	0	0.0009	0.0015	0.0011	0.0016	0.0011255	174	154602	rs199516479	0.0017	0.0017	0.0017	0.0017	0.0020	0.0017	0.0016	0.0019	0.0019	0.0003	0.0005	0.0005	0	0.0006	0.0012	0.0020	0.0013	0.0013	0.0012	0.0012	0.0013	0.0012	0.0019	0.0011	0.0010	0.0015	0.0015	0.0005	0	0.0015	0.0006	0	0.0008	0	0.0018	0.0009	0.0019	0.186	0.32769	T	0.177	0.36901	T	0.033	0.20350	B	0.003	0.08700	B	0.000001	0.84330	D	0.053468	0.999998	0.58761	D	1.085	0.27262	L	-0.25	0.67011	T	-0.88	0.42763	N	0.396	0.43803	-0.9017	0.47814	T	0.170	0.51117	T	10	0.021247	0.00505	T	0.014382	0.34458	T	0.142	0.37995	.	.	0.305926609036	0.30200	0.4647590414621886	0.46394	0.751286644975	0.63797	0.608377575874	0.54086	T	0.064225	0.32380	T	-0.281019	0.10559	T	-0.183705	0.56177	T	0.0153889840809345	0.00344	T	0.938406	0.76842	D	0.11208949	0.26482	0.09186103	0.21618	0.11208949	0.26482	0.09186103	0.21617	-8.073	0.61615	D	.	.	0.106	0.41648	B	.;.;.;.	.;.;.;.	4.600384	0.72850	25.9	0.9985013532028495	0.92925	0.93986	0.59770	D	AEFDGBCI	0.801025	0.72685	D	0.15204112574382	0.48909	3.097413	0.361641968123802	0.59211	4.097181	0.999999999160783	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	6.17	6.17	0.99707	6.171000	0.71829	5.965000	0.51894	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.983000	0.59808	0.0:0.9203:0.0:0.0797	11.604	0.50275	559	0.71409	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003024	0.000000	0.002717	0.000000	0.000000	0.008621	0.006135	0.000000	0.02632	1058.33	35	chr16	28101678	.	C	T	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.52;DP=688;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.54;ReadPosRankSum=-1.7;SOR=0.784	GT:AD:DP:GQ:PL	0/1:31,33:64:99:1072,0,748	18	0	1	0
chr16	28342966	28342966	-	GACAA	exonic	NPIPB6	.	frameshift insertion	NPIPB6:NM_001282524:exon7:c.918_919insTTGTC:p.P307Lfs*17	.	436	1078	2	0	6	8	0.000926784	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0004	0.0004	0.0006	0	0	0.0008	0	0	7.68e-05	2	26028	.	0.0069	0.0080	0.0072	0.0066	0.0079	0.0068	0.0068	0.0078	0.0077	0.0018	0.0027	0.0027	0.0004	0.0120	0.0013	0.0079	0.0047	0.0013	0.0005	0.0006	0.0005	0.0006	0.0008	0.0004	0.0004	0.0006	0.0006	7.528e-05	0.0011	0.0004	0.0006	0	0.0012	0	0.0008	0.0005	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	560.79	13	chr16	28342966	.	G	GGACAA	560.79	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.702;DP=2199;ExcessHet=0.119;FS=29.753;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=46.42;MQRankSum=3.14;QD=6.52;ReadPosRankSum=-3.6;SOR=0.017	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:10,22:32:99:0|1:28342964_A_C:309,0,379:28342964	17	0	2	0
chr16	28757997	28757997	G	T	splicing	NPIPB9	NM_001287251:exon2:c.26-1G>T	.	.	.	583	908	26	5	0	36	0.0194384	0	0.004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1393415693	0.0001	0.0022	9.244e-05	0.0001	0.0004	9.893e-05	9.081e-05	0.0002	0.0002	0	0.0004	0	3.105e-05	6.442e-05	0	0.0001	6.419e-05	0.0001	8.338e-05	0.0006	8.112e-05	8.578e-05	0.0003	4.507e-05	3.364e-05	6.364e-05	4.536e-05	5.428e-05	0	0	0	0	0	0	0.0001	0	0.0003	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.19599	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.562717	0.00244	T	-1.04608	0.00070	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.242196	0.02882	0.411	0.277422824348112	0.01392	0.00027	0.00265	N	AEFI	.	.	.	-0.681580609389436	0.16547	0.8440145	-1.15648077630497	0.06652	0.3209219	9.63470082261451E-6	0.01202	0.164513	0.03853	0	0.195528	0.04277	0	0.183335	0.04453	0	0.101684	0.03063	0	0.0932018	0.20989	.	.	.	-1.695000	0.02014	-7.369000	0.01171	-2.070000	0.00409	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	.	.	.	649	0.63102	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	223.64	35	chr16	28757997	.	G	T	223.64	.	AC=5;AF=0.139;AN=36;BaseQRankSum=0;DP=503;ExcessHet=0;FS=0;InbreedingCoeff=0.6304;MLEAC=3;MLEAF=0.083;MQ=40.26;MQRankSum=-0.674;QD=27.95;ReadPosRankSum=1.38;SOR=0.693	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,2:2:6:1|1:28757992_CA_C:90,6,0:28757992	15	2	1	1
chr16	29485668	29485668	C	0	exonic	NPIPB12	.	.	.	.	580	711	64	0	167	231	0.0430686	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	533.97	122	chr16	29485668	.	C	*	533.97	.	AC=12;AF=0.353;AN=34;BaseQRankSum=-2.51;DP=2515;ExcessHet=20.8569;FS=6.844;InbreedingCoeff=-0.7273;MLEAC=13;MLEAF=0.382;MQ=28.71;MQRankSum=-1.012;QD=0.28;ReadPosRankSum=-0.682;SOR=0.237	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:163,45:208:99:0|1:29485610_ACACACTC_A:485,0,5928:29485610	5	0	12	2
chr16	48096861	48096861	A	-	exonic	ABCC12	.	frameshift deletion	ABCC12:NM_033226:exon22:c.3080delT:p.L1027Rfs*7	.	431	1089	2	0	0	2	0.000917431	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00139776	0.0007	0	8.663e-05	0.0086	0	0.0001	0.0011	0.0001	0.000608	94	154602	rs544586060	0.0003	0.0003	0.0003	0.0003	0.0097	0.0003	0.0003	0.0089	0.0086	0	2.236e-05	0.0008	0.0097	1.872e-05	0	4.496e-05	0.0003	0.0001	0.0003	0.0003	0.0003	0.0004	0.0081	0.0002	0.0002	0.0062	0.0055	0	0	0	0.0012	0.0081	0	0	1.47e-05	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2579.29	35	chr16	48096860	.	CA	C	2579.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.314;DP=739;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.24;ReadPosRankSum=-0.671;SOR=0.72	GT:AD:DP:GQ:PL	0/1:38,73:111:99:2593,0,1201	18	0	1	0
chr16	57025490	57025490	C	T	exonic	NLRC5	.	nonsynonymous SNV	NLRC5:NM_001330552:exon6:c.C547T:p.R183W,NLRC5:NM_001384950:exon6:c.C547T:p.R183W,NLRC5:NM_001384951:exon6:c.C547T:p.R183W,NLRC5:NM_001384952:exon6:c.C547T:p.R183W,NLRC5:NM_001384953:exon6:c.C547T:p.R183W,NLRC5:NM_001384954:exon6:c.C547T:p.R183W,NLRC5:NM_001384955:exon6:c.C547T:p.R183W,NLRC5:NM_001384956:exon6:c.C547T:p.R183W,NLRC5:NM_001384957:exon6:c.C547T:p.R183W,NLRC5:NM_001384958:exon6:c.C547T:p.R183W,NLRC5:NM_001384959:exon6:c.C547T:p.R183W,NLRC5:NM_001384960:exon6:c.C547T:p.R183W,NLRC5:NM_001384961:exon6:c.C547T:p.R183W,NLRC5:NM_001384962:exon6:c.C547T:p.R183W,NLRC5:NM_001384963:exon6:c.C547T:p.R183W,NLRC5:NM_001384964:exon6:c.C547T:p.R183W,NLRC5:NM_001384965:exon6:c.C547T:p.R183W,NLRC5:NM_001384966:exon6:c.C547T:p.R183W,NLRC5:NM_001384967:exon6:c.C547T:p.R183W,NLRC5:NM_001384968:exon6:c.C547T:p.R183W,NLRC5:NM_001384969:exon6:c.C547T:p.R183W,NLRC5:NM_001384970:exon6:c.C547T:p.R183W,NLRC5:NM_001384971:exon6:c.C547T:p.R183W,NLRC5:NM_001384972:exon6:c.C547T:p.R183W,NLRC5:NM_001384973:exon6:c.C547T:p.R183W,NLRC5:NM_032206:exon6:c.C547T:p.R183W	.	.	.	.	.	.	.	.	.	.	.	3565971	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.383	0.0862862387736	.	.	2.516e-05	0	0	0.0002	0	1.514e-05	0	0	1.94e-05	3	154602	rs750291867	8.897e-06	8.893e-06	8.171e-06	9.631e-06	1.161e-05	4.97e-06	3.83e-06	3.1e-06	2.24e-06	0	0	0.0001	0	0	0	7.197e-06	1.657e-05	1.161e-05	1.971e-05	1.97e-05	1.285e-05	2.69e-05	0.0004	5.24e-06	2.45e-06	6.825e-05	2.856e-05	0	0	0	0	0.0004	0	0	1.47e-05	0	0	0.062	0.37536	T	0.082	0.41573	T	0.997	0.70673	D	0.821	0.59116	P	0.007881	0.31148	N	0.000000	0.998576	0.22064	N	2.19	0.61577	M	-0.67	0.74477	T	-0.1	0.08495	N	0.217	0.26354	-0.5987	0.64871	T	0.418	0.76401	T	10	0.24472359	0.41708	T	0.086286	0.74706	D	0.383	0.70029	0.551	0.66716	0.549714264244	0.54628	0.27681251394833656	0.27594	0.269377542869	0.29453	0.339226126671	0.16322	T	0.080569	0.36394	T	-0.170409	0.25171	T	-0.256855	0.49138	T	0.641328871250153	0.38093	D	0.784022	0.42156	T	0.058168888	0.11671	0.03753494	0.03425	0.058168888	0.11670	0.03753494	0.03425	-5.101	0.37918	T	.	.	0.130	0.36053	B	.;.;.	.;.;.	4.023658	0.59445	24.1	0.99898717429402517	0.97124	0.39998	0.26338	N	AEFBCI	0.349811	0.44347	N	0.0341195464698621	0.43413	2.634727	-0.097763099291533	0.35483	2.053376	0.993522611969281	0.33249	0.615465	0.37627	0	0.577304	0.33150	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.28	1.86	0.24489	-0.079000	0.11321	-0.146000	0.11468	-0.176000	0.10722	0.087000	0.22510	0.031000	0.21272	0.012000	0.09680	0.2612:0.6163:0.1224:0.0	8.625	0.33043	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	.	.	.	.	.	.	.	.	0.02632	1542.33	36	chr16	57025490	.	C	T	1542.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.72;DP=753;ExcessHet=0;FS=0.796;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.24;ReadPosRankSum=-0.088;SOR=0.871	GT:AD:DP:GQ:PL	0/1:36,59:95:99:1556,0,683	18	0	1	0
chr16	67188925	67188925	A	T	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon4:c.T223A:p.Y75N	.	419	1102	1	0	0	1	0.000453515	.	.	.	2808027	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.295	.	0.0051	0.00219649	0.0070	0.0006	0.0021	0	0.0281	0.0087	0.0126	0.0023	0.0064165	992	154602	rs117403380	0.0070	0.0070	0.0069	0.0071	0.0071	0.0069	0.0068	0.0070	0.0069	0.0010	0.0030	0.0016	5.038e-05	0.0297	0.0007	0.0071	0.0054	0.0024	0.0068	0.0068	0.0060	0.0077	0.0087	0.0065	0.0063	0.0081	0.0079	0.0006	0.0022	0.0053	0.0017	0	0.0281	0.0102	0.0087	0.0080	0.0033	0.088	0.34095	T	0.0	0.92824	D	1.0	0.90584	D	0.994	0.86255	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.945	0.84822	M	3.02	0.16089	T	-1.73	0.45769	N	0.851	0.84713	-1.0661	0.10293	T	0.087	0.33774	T	10	0.009964436	0.00223	T	.	.	.	0.295	0.61502	.	.	0.70904498819	0.70650	0.5359754917450498	0.53522	0.395847736703	0.40711	0.724603116512	0.70718	T	0.089854	0.38462	T	-0.26484	0.12338	T	-0.145952	0.59600	T	0.0476183086248913	0.05076	T	0.864914	0.75597	D	0.24159034	0.47076	0.18777151	0.42028	0.24159034	0.47076	0.18777151	0.42027	-9.564	0.71257	D	.	.	0.472	0.70540	A	.;.;.;.	.;.;.;.	4.476800	0.69809	25.4	0.97721304573646861	0.35561	0.98969	0.89329	D	AEFBI	0.910607	0.86873	D	0.731966278753647	0.81729	7.59064	0.721110749455357	0.83984	8.166763	0.999999999390469	0.74766	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.85	5.85	0.93663	4.029000	0.56964	5.425000	0.48576	0.756000	0.94297	0.998000	0.41325	1.000000	0.68203	0.998000	0.85391	1.0:0.0:0.0:0.0	15.065	0.71656	41	0.97903	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.001007	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1492.33	35	chr16	67188925	.	A	T	1492.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.431;DP=794;ExcessHet=0;FS=1.923;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.83;ReadPosRankSum=0.565;SOR=0.857	GT:AD:DP:GQ:PL	0/1:98,71:169:99:1506,0,2241	18	0	1	0
chr16	67189100	67189100	G	A	exonic	EXOC3L1	.	nonsynonymous SNV	EXOC3L1:NM_178516:exon3:c.C127T:p.R43W	.	422	1089	11	0	0	11	0.00502513	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.261	.	0.0010	0.00179712	0.0026	0.0001	0.0004	0	0.0002	0.0017	0.0045	0.0104	0.0019663	304	154602	rs138207138	0.0017	0.0017	0.0014	0.0020	0.0095	0.0016	0.0016	0.0090	0.0088	0.0003	0.0004	0.0007	5.052e-05	0.0001	0.0045	0.0013	0.0017	0.0095	0.0014	0.0014	0.0012	0.0015	0.0116	0.0012	0.0012	0.0092	0.0083	0.0002	0.0373	0.0010	0.0006	0	9.427e-05	0	0.0013	0.0019	0.0116	0.0	0.91255	D	0.001	0.83351	D	0.999	0.90584	D	0.828	0.68658	P	0.000000	0.84330	D	0.000000	0.999995	0.58761	D	2.955	0.85029	M	2.39	0.35031	T	-5.91	0.93135	D	0.577	0.59901	-0.6314	0.63511	T	0.209	0.56798	T	10	0.007327825	0.00167	T	.	.	.	0.261	0.57352	.	.	0.662692292153	0.65986	0.589916096667484	0.58921	0.325835097121	0.34731	0.388623774052	0.23475	T	0.260308	0.63166	T	-0.279259	0.10745	T	-0.166521	0.57760	T	0.0883487671110309	0.11020	T	0.89781	0.82322	D	0.72637236	0.79519	0.63070565	0.78457	0.72637236	0.79521	0.63070565	0.78458	-9.787	0.72626	D	.	.	0.131	0.55257	B	.;.;.;.	.;.;.;.	4.903343	0.80616	27.4	0.99912105370551108	0.98095	0.91342	0.53340	D	AEFDBI	0.874708	0.79772	D	0.464599842962669	0.65036	4.772212	0.388537297373506	0.60859	4.278235	0.99999724083156	0.74766	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	5.25	3.18	0.35615	1.917000	0.39626	5.649000	0.49176	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:0.0:0.7154:0.2846	13.336	0.59958	41	0.97903	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.005561	0.000000	0.004087	0.005848	0.050000	0.008621	0.003086	0.018939	0.05263	1177.83	35	chr16	67189100	.	G	A	1177.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.3;DP=689;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.04;SOR=0.726	GT:AD:DP:GQ:PL	0/1:22,22:44:99:565,0,529	17	0	2	0
chr16	67391032	67391032	C	G	exonic	TPPP3	.	nonsynonymous SNV	TPPP3:NM_015964:exon2:c.G80C:p.G27A,TPPP3:NM_016140:exon3:c.G80C:p.G27A	.	.	.	.	.	.	.	.	.	.	.	3928371	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.225	0.0175555925362	7.7e-05	0.000199681	0.0002	0	0	0	0	2.997e-05	0	0.0012	0.0001423	22	154602	rs374128583	8.345e-05	8.345e-05	5.173e-05	0.0001	0.0012	7.136e-05	6.684e-05	0.0010	0.0009	0	4.472e-05	0	0	0	0.0002	1.079e-05	8.279e-05	0.0012	0.0003	0.0003	0.0003	0.0003	0.0014	0.0002	0.0002	0.0007	0.0005	0	0.0373	0.0001	0	0	0	0	4.41e-05	0	0.0014	0.217	0.19157	T	0.307	0.19908	T	0.92	0.51019	P	0.9	0.63913	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.575	0.75298	M	0.97	0.42502	T	-2.68	0.57275	D	0.774	0.77132	-0.7094	0.59982	T	0.258	0.62856	T	10	0.016255498	0.00342	T	0.017556	0.39307	T	0.225	0.52323	.	.	0.694760578824	0.69213	0.692613586177605	0.69201	1.20030349719	0.80521	0.683516919613	0.64774	T	0.162504	0.50720	T	-0.237366	0.15686	T	-0.159288	0.58416	T	0.314158111810684	0.25584	T	0.930207	0.74183	D	0.4088852	0.61342	0.35810456	0.61293	0.4088852	0.61343	0.35810456	0.61292	-7.235	0.55732	T	.	.	0.593	0.68582	P	.;.;.;.	.;.;.;.	4.674650	0.74743	26.2	0.99769667756163649	0.85750	0.99124	0.91578	D	AEFDGBI	0.971139	0.99327	D	0.712171588351429	0.80429	7.292512	0.695722111608981	0.82053	7.672894	0.999999999999999	0.74766	0.615465	0.37627	0	0.563428	0.19063	0	0.602189	0.34648	0	0.655142	0.61905	0	.	.	5.03	5.03	0.67015	7.905000	0.86479	7.626000	0.62520	0.549000	0.26987	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	17.530	0.87709	21	0.98493	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3419.83	34	chr16	67391032	.	C	G	3419.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.13;DP=903;ExcessHet=0.119;FS=0.436;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.92;ReadPosRankSum=-0.504;SOR=0.745	GT:AD:DP:GQ:PL	0/1:73,75:148:99:1743,0,1958	17	0	2	0
chr16	67657801	67657801	G	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon11:c.C1259G:p.P420R,ACD:NM_022914:exon11:c.C1250G:p.P417R	.	.	.	.	.	.	.	.	.	.	.	1827442	Inborn_genetic_diseases|Dyskeratosis_congenita,_autosomal_dominant_6	MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.065	0.0271871235519	.	.	1.65e-05	0	0	0	0	3.003e-05	0	0	1.94e-05	3	154602	rs750023370	1.095e-05	1.094e-05	5.445e-06	1.65e-05	0.0002	6.48e-06	5.24e-06	5.31e-06	3.88e-06	0	0	0	0	0	0.0002	9.892e-06	4.968e-05	1.159e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	0.60972	D	0.969	0.60036	D	0.68	0.59562	P	0.376969	0.13444	N	0.680225	0.999938	0.19363	N	2.255	0.64187	M	.	.	.	.	.	.	0.438	0.47672	-1.0560	0.12776	T	0.112	0.40122	T	10	0.18436	0.33807	T	0.027187	0.50027	D	0.065	0.18881	0.427	0.47350	0.572173585829	0.56884	0.12097539796430509	0.12024	0.412054783873	0.41956	0.324243724346	0.14064	T	0.371108	0.73553	T	-0.130069	0.31485	T	-0.409125	0.32325	T	0.824330747127533	0.48096	D	0.733327	0.35462	T	0.11731527	0.27659	0.14104538	0.33602	0.11731527	0.27659	0.14104538	0.33601	.	.	.	0.7696368426926695	0.85074	0.150	0.43102	B	.;.;.;.;.;.	.;.;.;.;.;.	3.249643	0.44396	21.9	0.99786898313531358	0.87308	0.19153	0.20548	N	AEFDGBCI	0.142833	0.26538	N	0.083603855078002	0.45698	2.822056	-0.00847773803459684	0.39330	2.330327	0.999966026223724	0.48965	0.706548	0.73137	0	0.697927	0.68747	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	4.76	2.64	0.30504	1.365000	0.33786	3.553000	0.39056	0.618000	0.50648	0.022000	0.19841	0.930000	0.28522	0.984000	0.60418	0.1016:0.0:0.7176:0.1808	6.357	0.20611	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1339.33	41	chr16	67657801	.	G	C	1339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.236;DP=843;ExcessHet=0;FS=0.62;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.3;ReadPosRankSum=-1.045;SOR=0.768	GT:AD:DP:GQ:PL	0/1:83,61:144:99:1353,0,2141	18	0	1	0
chr16	67658960	67658960	T	C	exonic	ACD	.	nonsynonymous SNV	ACD:NM_001082486:exon7:c.A613G:p.T205A,ACD:NM_022914:exon7:c.A604G:p.T202A	.	430	1088	3	1	0	5	0.00229253	.	.	.	530106	Dyskeratosis_congenita,_autosomal_dominant_6|ACD-related_disorder|not_provided|not_specified	MONDO:MONDO:0014690,MedGen:C4225284,OMIM:616553,Orphanet:3322|.|MedGen:C3661900|MedGen:CN169374	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.362	0.11067431758	0.0010	0.000998403	0.0015	0.0002	0.0006	0	0	0.0015	0.0011	0.0042	0.0013777	213	154602	rs139438549	0.0012	0.0012	0.0011	0.0014	0.0044	0.0012	0.0012	0.0040	0.0039	0.0001	0.0007	0.0033	0	0	0.0024	0.0011	0.0012	0.0044	0.0011	0.0011	0.0010	0.0011	0.0044	0.0009	0.0009	0.0029	0.0025	0.0002	0.0373	0.0010	0.0023	0	0	0	0.0011	0.0009	0.0044	.	.	.	0.014	0.62352	D	0.993	0.68779	D	0.978	0.78936	D	0.000104	0.50451	D	0.082287	0.999977	0.18612	N	2.25	0.63811	M	.	.	.	.	.	.	0.499	0.53620	-0.7753	0.56565	T	0.259	0.62999	T	10	0.004820019	0.00102	T	0.110674	0.78815	D	0.362	0.68230	.	.	0.846853498578	0.84538	0.6155730349153837	0.61489	0.450995672873	0.44860	0.410301268101	0.26498	T	0.724472	0.92239	D	-0.251301	0.13939	T	-0.133897	0.60642	T	0.0913144573569298	0.11373	T	0.728227	0.34274	T	0.67759454	0.76840	0.58441406	0.75902	0.8596595	0.88061	0.54078	0.73460	.	.	.	0.8377694817202448	0.90702	0.456	0.65780	A	.;.;.;.;.;.	.;.;.;.;.;.	3.822991	0.55215	23.6	0.99520996860738109	0.69222	0.67895	0.33599	D	AEFDGBCI	0.373121	0.45851	N	0.225927322891359	0.52458	3.419881	0.141210490154682	0.46678	2.909948	0.999999985881756	0.74766	0.741868	0.97996	0	0.672317	0.65289	0	0.774882	0.98623	0	0.735409	0.98432	0	.	.	4.96	4.96	0.65153	2.605000	0.45947	6.123000	0.53812	0.665000	0.62972	0.997000	0.40164	1.000000	0.68203	0.624000	0.32000	0.0:0.0:0.0:1.0	11.026	0.46963	43	0.97828	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003021	0.000000	0.001359	0.000000	0.050000	0.000000	0.003049	0.007576	0.05263	4667.83	33	chr16	67658960	.	T	C	4667.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.83;DP=1057;ExcessHet=0.119;FS=1.111;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.98;ReadPosRankSum=1.45;SOR=0.766	GT:AD:DP:GQ:PL	0/1:107,92:199:99:2156,0,2888	17	0	2	0
chr16	67842920	67842920	-	CAG	exonic	THAP11	.	nonframeshift insertion	THAP11:NM_020457:exon1:c.366_367insCAG:p.Q132_S133insQ	.	.	.	.	.	.	.	.	.	.	.	1629246	THAP11-related_disorder|not_provided	.|MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	.	.	.	.	0.0070	0.0149	0.0027	0.0106	0.0012	0.0051	0.0028	0.0136	0.0001921	5	26028	rs751985625	0.0048	0.0048	0.0046	0.0050	0.0156	0.0047	0.0046	0.0144	0.0140	0.0156	0.0041	0.0043	0.0084	0.0007	0.0068	0.0038	0.0075	0.0118	0.0079	0.0079	0.0080	0.0078	0.0148	0.0075	0.0074	0.0138	0.0134	0.0148	0.0374	0.0060	0.0032	0.0115	0.0011	0	0.0043	0.0092	0.0146	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05263	15663.3	38	chr16	67842920	.	A	ACAG	15663.3	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.14;DP=1169;ExcessHet=1.7862;FS=0.549;InbreedingCoeff=-0.0523;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=20.64;ReadPosRankSum=0.938;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:46,24:70:99:.:.:835,0,1780:.	17	0	2	0
chr16	86510654	86510654	G	T	exonic	FOXF1	.	nonsynonymous SNV	FOXF1:NM_001451:exon1:c.G85T:p.A29S	Alveolar capillary dysplasia with misalignment of pulmonary veins, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	336305	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.258	0.87117369	0.0002	0.000199681	0.0001	0	0.0002	0	0	0.0002	0.0028	0	7.76e-05	12	154602	rs373503439	3.452e-05	3.557e-05	3.569e-05	3.334e-05	0.0003	2.656e-05	2.397e-05	0.0002	0.0002	3.026e-05	0.0003	0.0002	0	0	0	2.258e-05	5.033e-05	1.176e-05	1.977e-05	1.97e-05	2.579e-05	1.348e-05	6.551e-05	5.26e-06	2.46e-06	4.89e-06	1.83e-06	0	0	6.551e-05	0	0	0	0	2.947e-05	0	0	0.299	0.14546	T	0.695	0.05825	T	0.012	0.16265	B	0.006	0.12133	B	.	.	.	.	0.996753	0.43396	D	0	0.06538	N	-3.86	0.95891	D	0.31	0.04022	N	0.129	0.12341	-0.2850	0.75404	T	0.590	0.85320	D	9	0.06693658	0.09255	T	0.871174	0.99015	D	0.258	0.56959	.	.	0.41767021734	0.41382	0.5089539679211464	0.50817	.	.	0.834429383278	0.87241	D	0.153577	0.49449	T	-0.243161	0.14949	T	-0.288124	0.45967	T	0.0047689712689035	0.00051	T	0.440256	0.12156	T	0.10229264	0.24170	0.13500386	0.32335	0.08503591	0.19707	0.15600893	0.36542	-2.984	0.10010	T	0.0623405500016317	0.01841	0.066	0.02228	B	.	.	2.811467	0.37014	20.4	0.75559715118271653	0.11122	0.65208	0.32661	D	AEFDBHCIJ	0.312076	0.41762	N	-0.991833748267144	0.08777	0.4128554	-0.877473683861996	0.12629	0.6507103	0.999999703022704	0.74766	0.59774	0.34471	0	0.596491	0.49125	0	0.606814	0.37721	0	0.56751	0.32155	0	.	.	3.27	2.28	0.27583	0.690000	0.25132	8.145000	0.76695	-0.171000	0.11205	0.013000	0.18845	1.000000	0.68203	0.701000	0.34172	0.0:0.2056:0.7944:0.0	10.204	0.42278	982	0.03397	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1612.83	34	chr16	86510654	.	G	T	1612.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.91;DP=777;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.9;ReadPosRankSum=-1.243;SOR=0.711	GT:AD:DP:GQ:PL	0/1:43,32:75:99:733,0,898	17	0	2	0
chr16	89769951	89769951	G	A	exonic	FANCA	.	nonsynonymous SNV	FANCA:NM_000135:exon26:c.C2390T:p.A797V,FANCA:NM_001286167:exon26:c.C2390T:p.A797V	Fanconi anemia, complementation group A, Autosomal recessive	0	1520	2	0	0	2	0.000657462	.	.	YES	530421	Fanconi_anemia|Fanconi_anemia_complementation_group_A|not_specified|not_provided	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orphanet:84|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orphanet:84|MedGen:CN169374|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.168	0.0352855611351	0.0003	0.000199681	0.0004	0.0006	8.678e-05	0	0	0.0005	0.0011	0.0002	0.0003105	48	154602	rs138248569	0.0002	0.0002	0.0002	0.0002	0.0009	0.0002	0.0002	0.0003	0.0002	0.0002	8.944e-05	3.826e-05	0	1.877e-05	0.0009	0.0002	0.0003	0.0001	0.0002	0.0002	0.0003	0.0002	0.0004	0.0002	0.0002	0.0003	0.0002	0.0002	0	0.0002	0	0.0002	0	0	0.0004	0	0	0.537	0.06869	T	0.534	0.09965	T	0.001	0.07471	B	0.001	0.04355	B	0.261112	0.03709	N	1.536950	1	0.08975	N	-0.365	0.03101	N	-1.82	0.84047	D	0.12	0.05604	N	0.029	0.00666	-0.7371	0.58601	T	0.285	0.65724	T	10	0.026365042	0.00805	T	0.035286	0.56245	D	0.168	0.42943	.	.	0.7014751448	0.69889	0.07588697924729894	0.07524	.	.	0.329142212868	0.14805	T	0.068997	0.33598	T	-0.470256	0.00847	T	-0.597111	0.13054	T	0.00241497756322022	0.00025	T	0.542346	0.19192	T	0.01032362	0.00007	0.025166135	0.00552	0.009292143	0.00002	0.024710225	0.00495	-3.754	0.20342	T	0.10835342799951482	0.08924	0.064	0.01668	B	.;.	.;.	-1.040168	0.00715	0.021	0.68435054147734564	0.08657	0.00674	0.02901	N	AEFDBI	0.031507	0.03385	N	-1.76087640924679	0.00648	0.02796099	-1.84408196287035	0.00628	0.02791774	0.999998964789265	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	4.63	-9.26	0.00563	-1.329000	0.02784	-5.076000	0.01859	-0.659000	0.04360	0.000000	0.06391	0.000000	0.08366	0.091000	0.17840	0.745:0.0:0.1636:0.0913	12.127	0.53225	671	0.60868	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	0.003024	0.000000	0.004076	0.000000	0.000000	0.008621	0.006135	0.003788	0.07895	3792.79	41	chr16	89769951	.	G	A	3792.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.596;DP=870;ExcessHet=0.3672;FS=0.463;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=-0.597;SOR=0.756	GT:AD:DP:GQ:PL	0/1:36,40:76:99:1008,0,825	16	0	3	0
chr17	747357	747357	C	T	exonic	GEMIN4	.	nonsynonymous SNV	GEMIN4:NM_015721:exon2:c.G686A:p.R229Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.00520077273776	.	.	8.295e-06	0	0	0	0	0	0	6.057e-05	6.5e-06	1	154602	rs776409306	1.847e-05	1.847e-05	1.906e-05	1.788e-05	0.0002	1.265e-05	1.084e-05	1.295e-05	1.106e-05	0	0	0	0	0	0.0002	1.979e-05	1.656e-05	3.478e-05	6.572e-06	6.567e-06	0	1.345e-05	1.47e-05	0	0	.	.	0	0	0	0	0	0	0	1.47e-05	0	0	0.508	0.07545	T	0.553	0.14500	T	0.072	0.23997	B	0.022	0.19653	B	0.016852	0.27871	N	0.437339	1	0.08975	N	2.08	0.57402	M	2.5	0.14408	T	0.19	0.04947	N	0.044	0.01658	-1.0127	0.26070	T	0.030	0.13023	T	10	0.06273785	0.08068	T	0.005201	0.13248	T	0.022	0.04323	.	.	0.361558571881	0.35766	0.09270868343319491	0.09202	0.150705960486	0.16997	0.220036566257	0.01312	T	0.019662	0.15622	T	-0.404092	0.02176	T	-0.636699	0.09913	T	0.049535992749366	0.05417	T	0.609739	0.23084	T	0.018488575	0.00370	0.028924419	0.01176	0.018488575	0.00370	0.028924419	0.01176	-3.569	0.17410	T	.	.	0.082	0.09045	B	.;.;.;.	.;.;.;.	0.864852	0.12376	8.912	0.65094010819872372	0.07676	0.09812	0.15482	N	AEFDBCI	0.061280	0.11703	N	-1.08593234480482	0.06902	0.3190561	-1.09746486977808	0.07750	0.3782153	0.0624746849537814	0.15264	0.67177	0.52595	0	0.702456	0.74545	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	5.6	2.37	0.28337	0.726000	0.25653	0.456000	0.18569	-1.787000	0.00643	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7811:0.0:0.2189	11.467	0.49490	946	0.12043	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1775.33	37	chr17	747357	.	C	T	1775.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=909;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.15;ReadPosRankSum=-1.444;SOR=0.666	GT:AD:DP:GQ:PL	0/1:71,64:135:99:1789,0,1814	18	0	1	0
chr17	1769918	1769918	G	A	exonic	SERPINF1	.	nonsynonymous SNV	SERPINF1:NM_001329903:exon3:c.G151A:p.V51M,SERPINF1:NM_002615:exon3:c.G151A:p.V51M	Osteogenesis imperfecta, type VI	.	.	.	.	.	.	.	.	.	.	740627	not_provided|Osteogenesis_imperfecta|not_specified|Osteogenesis_imperfecta_type_6	MedGen:C3661900|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200,Orphanet:666|MedGen:CN169374|MONDO:MONDO:0013515,MedGen:C3279564,OMIM:613982,Orphanet:666	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.139	.	7.7e-05	0.00559105	0.0014	0.0002	0	0.0184	0	1.499e-05	0	0.0004	0.0014618	226	154602	rs150899084	0.0005	0.0005	0.0005	0.0005	0.0117	0.0005	0.0004	0.0108	0.0105	0.0002	0.0001	0	0.0117	0	0.0003	3.237e-05	0.0023	0.0006	0.0007	0.0007	0.0006	0.0008	0.0175	0.0006	0.0006	0.0146	0.0135	0.0001	0	6.537e-05	0	0.0175	0	0	1.47e-05	0.0009	0.0019	0.284	0.15303	T	0.044	0.69154	D	0.951	0.53992	P	0.257	0.39298	B	0.090705	0.20362	N	0.544252	1	0.81001	D	2.665	0.77964	M	1.28	0.87512	T	-0.16	0.09460	N	0.175	0.18784	-1.1428	0.01257	T	0.027	0.11663	T	10	0.009355158	0.00211	T	.	.	.	0.139	0.37390	.	.	0.890675266327	0.88959	0.5842444823527361	0.58353	0.0922780189812	0.10416	0.540720820427	0.44547	T	0.049771	0.28402	T	-0.206713	0.19845	T	-0.0541107	0.66740	D	0.0334724921535293	0.02549	T	0.916508	0.70155	D	0.07177923	0.15916	0.05260933	0.08700	0.07553493	0.17022	0.046458937	0.06480	-5.303	0.39973	T	.	.	0.130	0.36772	B	.;.;.;.;.	.;.;.;.;.	3.892312	0.56638	23.8	0.99699523928408185	0.80522	0.57695	0.30444	D	ALL	0.693195	0.65260	D	0.162472537462544	0.49403	3.141191	0.251476668093129	0.52733	3.44622	0.999999999621914	0.74766	0.730579	0.87903	0	0.681609	0.65952	0	0.749866	0.98131	0	0.542086	0.14980	0	.	.	5.67	5.67	0.87673	0.936000	0.28536	6.582000	0.56000	0.668000	0.69082	0.649000	0.28163	1.000000	0.68203	0.970000	0.54328	0.1909:0.0:0.8091:0.0	9.678	0.39219	636	0.64483	Pigment epithelium derived factor;.;.;.;.	.	.	.	.	.	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	0.001511	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.003788	0.02632	1380.33	35	chr17	1769918	.	G	A	1380.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.46;DP=795;ExcessHet=0;FS=3.348;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=0.016;SOR=0.448	GT:AD:DP:GQ:PL	0/1:61,58:119:99:1394,0,1350	18	0	1	0
chr17	6760580	6760580	G	T	exonic	XAF1	.	stopgain	XAF1:NM_199139:exon3:c.G343T:p.E115X,XAF1:NM_001353136:exon4:c.G220T:p.E74X,XAF1:NM_017523:exon4:c.G400T:p.E134X,XAF1:NM_001353135:exon5:c.G400T:p.E134X	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0042	0.00139776	0.0037	0.0012	0.0021	0	0.0017	0.0056	0.0080	0.0012	0.0038098	589	154602	rs146752602	0.0055	0.0055	0.0056	0.0053	0.0066	0.0054	0.0053	0.0065	0.0065	0.0010	0.0021	7.661e-05	0	0.0022	0.0023	0.0066	0.0050	0.0010	0.0037	0.0037	0.0041	0.0032	0.0059	0.0034	0.0033	0.0054	0.0052	0.0008	0.0669	0.0016	0	0	0.0027	0	0.0059	0.0019	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	0.012108	0.01326	N	2.424610	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.507	0.65673	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.239564	0.15404	T	-0.112047	0.62448	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;Tolerant	.;High	4.839084	0.78981	27.0	0.75401304140767478	0.11061	0.08653	0.14552	N	AEFBCI	0.020562	0.00824	N	-0.464678502998854	0.23244	1.246906	-0.917117463289183	0.11690	0.597124	0.999902288651337	0.45458	0.67177	0.52595	0	0.702456	0.74545	0	0.573888	0.23631	0	0.491896	0.07777	0	.	.	3.77	-5.71	0.02218	-1.649000	0.02095	-2.174000	0.04104	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.001000	0.02609	0.5139:0.2645:0.2216:0.0	5.642	0.16846	878	0.29785	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002525	0.000000	0.001362	0.002924	0.000000	0.000000	0.006135	0.003788	0.02632	707.33	34	chr17	6760580	.	G	T	707.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.105;DP=771;ExcessHet=0;FS=0.9;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.43;ReadPosRankSum=-1.034;SOR=0.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,33:75:99:1|0:6760576_C_G:721,0,1639:6760576	18	0	1	0
chr17	6800775	6800775	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1021C:p.V341L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.254	0.0148905317491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.74e-06	0.0001	2.726e-06	2.755e-06	3.602e-06	6.4e-07	4.3e-07	8.4e-07	5.7e-07	0	0	0	0	0	0	3.602e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.01	0.65728	D	0.554	0.38213	P	0.802	0.58266	P	0.000902	0.41128	D	0.246339	0.603536	0.30920	N	3.065	0.87014	M	3.56	0.04696	T	-2.86	0.60188	D	0.591	0.61087	-1.1171	0.02524	T	0.046	0.19879	T	10	0.87548256	0.86836	D	0.014891	0.35296	T	0.254	0.56428	0.784	0.90768	0.246773566709	0.24272	0.5436249433425214	0.54288	0.388407156696	0.40106	0.465720266104	0.34094	T	0.063408	0.32168	T	-0.0577574	0.43257	T	-0.320741	0.42493	T	0.98490309715271	0.76061	D	0.841416	0.51702	T	0.3524521	0.57257	0.4248366	0.66311	0.3524521	0.57257	0.4248366	0.66311	-7.213	0.55575	T	.	.	0.280	0.51350	B	.	.	3.041864	0.40780	21.2	0.99569122627841022	0.72258	0.87246	0.46727	D	AEFDBHCI	0.189729	0.31698	N	0.250775222256954	0.53677	3.535585	0.210393057645656	0.50423	3.234527	0.999881703001044	0.44867	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.75	0.31439	1.756000	0.38018	-0.111000	0.11829	0.599000	0.40250	1.000000	0.71638	0.151000	0.23179	0.983000	0.59808	0.0:0.7763:0.0:0.2237	10.030	0.41269	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3	3208.72	145	chr17	6800775	.	C	G	3208.72	.	AC=9;AF=0.3;AN=30;BaseQRankSum=-1.731;DP=2621;ExcessHet=5.3738;FS=198.068;InbreedingCoeff=-0.4074;MLEAC=10;MLEAF=0.333;MQ=60;MQRankSum=0;QD=2.59;ReadPosRankSum=1.15;SOR=12.21	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:101,50:165:99:.:.:474,0,3104:.	6	0	9	4
chr17	6800776	6800776	C	G	exonic	TEKT1	.	nonsynonymous SNV	TEKT1:NM_053285:exon7:c.G1020C:p.E340D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.326	0.028278372682	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.007	0.59928	D	0.013	0.63109	D	1.0	0.90584	D	0.999	0.92359	D	0.000002	0.62929	D	0.098481	0.983136	0.42247	D	3.525	0.93020	H	2.96	0.09542	T	-2.88	0.60507	D	0.808	0.80375	-0.9824	0.34445	T	0.107	0.39051	T	10	0.95349437	0.94696	D	0.028278	0.50978	D	0.326	0.64826	0.877	0.96683	0.497481867153	0.49385	0.6113345721572323	0.61065	0.419681481569	0.42513	0.529784560204	0.43004	T	0.202368	0.56052	T	0.124774	0.66848	D	-0.0585471	0.66434	T	0.995554625988007	0.87638	D	0.840516	0.51562	T	0.7195699	0.79137	0.5731973	0.75279	0.7195699	0.79139	0.5731973	0.75280	-8.963	0.67458	D	.	.	0.829	0.78671	P	.	.	3.572194	0.50313	22.9	0.9983085278040047	0.91284	0.84486	0.43568	D	AEFDBHCI	0.220516	0.34526	N	0.55574673951639	0.70432	5.500766	0.423949101341838	0.63059	4.532556	0.999819604160299	0.43459	0.525926	0.21836	0	0.563428	0.19063	0	0.607795	0.38427	0	0.584449	0.35598	0	.	.	5.84	2.8	0.31881	1.605000	0.36426	0.787000	0.21533	0.599000	0.40250	1.000000	0.71638	0.338000	0.24408	0.976000	0.56436	0.0:0.6876:0.0:0.3124	8.074	0.29869	873	0.30802	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1562	914.16	145	chr17	6800776	.	C	G	914.16	.	AC=5;AF=0.156;AN=32;BaseQRankSum=-3.841;DP=2249;ExcessHet=2.0135;FS=154.748;InbreedingCoeff=-0.2489;MLEAC=6;MLEAF=0.188;MQ=60;MQRankSum=0;QD=1.08;ReadPosRankSum=0.72;SOR=10.577	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:121,45:172:99:.:.:441,0,3283:.	11	0	5	3
chr17	7236157	7236165	TCCTCTTCC	-	exonic	PHF23	.	nonframeshift deletion	PHF23:NM_001284517:exon4:c.561_569del:p.E192_E194del,PHF23:NM_001284518:exon4:c.750_758del:p.E255_E257del,PHF23:NM_024297:exon4:c.762_770del:p.E259_E261del	.	379	1135	7	1	0	9	0.0039491	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.000998403	0.0009	0.0007	0.0010	0.0021	0.0005	0.0003	0	0.0030	0.0002689	7	26028	rs569508322	0.0006	0.0006	0.0005	0.0007	0.0027	0.0005	0.0005	0.0024	0.0023	0.0006	0.0007	0	0.0013	0.0004	0.0026	0.0004	0.0009	0.0027	0.0009	0.0009	0.0009	0.0009	0.0037	0.0008	0.0007	0.0024	0.0020	0.0011	0.0252	0.0006	0	0.0017	0.0006	0	0.0003	0	0.0037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	1052.29	36	chr17	7236156	.	TTCCTCTTCC	T	1052.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.12;DP=728;ExcessHet=0;FS=5.905;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.99;ReadPosRankSum=1.75;SOR=0.289	GT:AD:DP:GQ:PL	0/1:46,35:81:99:1066,0,1754	18	0	1	0
chr17	10448672	10448672	C	-	exonic	MYH4	.	frameshift deletion	MYH4:NM_017533:exon32:c.4477delG:p.E1493Rfs*10	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0001	0	0	0.0005	0	0	0.0011	0.0007	0.00011	17	154602	rs773763976	6.978e-05	6.977e-05	5.581e-05	8.388e-05	0.0007	5.847e-05	5.457e-05	0.0006	0.0005	0	0	0	0.0005	0	0	0	0.0003	0.0007	4.595e-05	4.593e-05	2.569e-05	6.711e-05	0.0008	2.107e-05	1.526e-05	0.0003	0.0002	0	0	0	0	0.0008	0	0	0	0	0.0006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2370.29	35	chr17	10448671	.	TC	T	2370.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.05;DP=809;ExcessHet=0;FS=1.829;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.68;ReadPosRankSum=-0.292;SOR=0.836	GT:AD:DP:GQ:PL	0/1:114,73:187:99:2384,0,4031	18	0	1	0
chr17	15738743	15738743	G	T	exonic	TBC1D26	.	nonsynonymous SNV	TBC1D26:NM_178571:exon8:c.G410T:p.R137M	.	420	1071	29	2	0	33	0.0151724	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.053	0.00300793216827	0.0036	0.00279553	0.0048	0.0014	0.0052	0	0.0051	0.0052	0.01	0.0073	0.0002846	44	154602	rs200599059	0.0045	0.0046	0.0043	0.0047	0.0115	0.0044	0.0044	0.0092	0.0084	0.0007	0.0035	0.0057	2.519e-05	0.0047	0.0115	0.0045	0.0046	0.0080	0.0036	0.0036	0.0034	0.0038	0.0083	0.0033	0.0032	0.0063	0.0055	0.0010	0	0.0048	0.0058	0	0.0034	0.0204	0.0048	0.0024	0.0083	0.056	0.38185	T	0.005	0.72224	D	1.0	0.90584	D	0.981	0.76916	D	0.811425	0.06830	U	1.143400	1	0.08975	N	2.305	0.65957	M	1.34	0.34841	T	-4.52	0.78302	D	0.25	0.31925	-0.8839	0.49448	T	0.189	0.54019	T	10	0.008189052	0.00186	T	0.003008	0.06457	T	0.053	0.14996	.	.	0.283761946502	0.27984	0.1447487754314169	0.14397	3.50374879105	0.99750	0.374598145485	0.21488	T	0.025945	0.19300	T	-0.509024	0.00508	T	-0.498686	0.22484	T	0.0571589763682511	0.06715	T	0.715328	0.35508	T	0.20950828	0.43220	0.28097957	0.54077	0.20950828	0.43219	0.28097957	0.54076	-4.518	0.43479	T	.	.	0.218	0.44809	B	.;.;.	.;.;.	1.291697	0.16929	12.85	0.89938657323165594	0.19236	0.00244	0.01352	N	AEFGI	0.044614	0.07199	N	-0.472508272218424	0.22984	1.231116	-0.852455980394181	0.13229	0.6850969	1.92644233888728E-5	0.02871	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.567892	0.33627	0	.	.	1.44	-2.89	0.05326	-0.806000	0.04632	-0.367000	0.09633	0.350000	0.19923	0.000000	0.06391	0.000000	0.08366	0.117000	0.19042	0.0:0.0:0.4793:0.5207	5.239	0.14780	725	0.54935	.;Rab-GTPase-TBC domain|Rab-GTPase-TBC domain|Rab-GTPase-TBC domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.007549	0.000000	0.004121	0.013043	0.000000	0.017544	0.003546	0.016260	0.05263	4685.83	36	chr17	15738743	.	G	T	4685.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.49;DP=930;ExcessHet=0.119;FS=0.424;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=47.18;MQRankSum=-6.547;QD=15.16;ReadPosRankSum=0.393;SOR=0.742	GT:AD:DP:GQ:PL	0/1:56,93:149:99:2305,0,1046	17	0	2	0
chr17	18148792	18148792	G	A	exonic	MYO15A	.	nonsynonymous SNV	MYO15A:NM_016239:exon32:c.G6796A:p.V2266M	Deafness, autosomal recessive 3, Autosomal recessive	0	1484	38	0	0	38	0.0126414	.	.	.	176472	not_specified|not_provided|Autosomal_recessive_nonsyndromic_hearing_loss_3	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010860,MedGen:C1838263,OMIM:600316,Orphanet:90636	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.691	.	0.0069	0.00998403	0.0081	0.0308	0.0040	0.0048	0.0071	0.0053	0.0071	0.0094	0.0044437	687	154602	rs114274755	0.0038	0.0038	0.0036	0.0039	0.0191	0.0037	0.0037	0.0179	0.0174	0.0191	0.0027	0.0018	0.0012	0.0017	0.0129	0.0031	0.0062	0.0079	0.0079	0.0079	0.0082	0.0075	0.0183	0.0075	0.0073	0.0172	0.0168	0.0183	0.0033	0.0044	0.0023	0.0042	0.0022	0.0102	0.0037	0.0099	0.0083	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	0.981	0.75168	D	.	.	.	.	0.999726	0.48557	D	2.85	0.82803	M	-2.94	0.91851	D	-2.58	0.55662	D	0.256	0.48596	0.804	0.94464	D	0.828	0.94224	D	9	0.00869599	0.00197	T	.	.	.	0.691	0.88773	.	.	0.789955191066	0.78800	0.7734870707751024	0.77298	.	.	0.466697096825	0.34228	T	0.159079	0.89826	T	-0.270151	0.11740	T	-0.144573	0.59720	T	0.0186068453905915	0.00574	T	0.832317	0.50011	T	0.21298486	0.43665	0.28708565	0.54719	0.25677887	0.48718	0.29830658	0.55863	-11.467	0.82157	D	0.6535977975587219	0.72609	0.214	0.44293	B	.;.;.	.;.;.	3.896003	0.56716	23.8	0.9957329123921802	0.72561	0.94542	0.61503	D	AEFDBI	0.440353	0.49895	N	0.609228781352819	0.73758	6.018633	0.518113720952307	0.69208	5.327907	0.99869715174054	0.37477	0.615465	0.37627	0	0.547309	0.14657	0	0.658983	0.55881	0	0.613276	0.41899	0	.	.	4.26	4.26	0.49832	3.346000	0.51907	7.578000	0.60885	0.674000	0.70861	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.0:0.0:1.0:0.0	16.852	0.85862	188	0.92666	.;.;.	.	.	.	.	.	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	0.011640	0.010526	0.019022	0.002941	0.000000	0.025862	0.009202	0.003788	0.05263	1270.83	37	chr17	18148792	.	G	A	1270.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.04;DP=733;ExcessHet=0.119;FS=0.7;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=10.86;ReadPosRankSum=0.976;SOR=0.805	GT:AD:DP:GQ:PL	0/1:30,25:55:99:599,0,663	17	0	2	0
chr17	37257713	37257713	C	T	exonic	ACACA	.	nonsynonymous SNV	ACACA:NM_198837:exon12:c.G1531A:p.E511K,ACACA:NM_198838:exon13:c.G1471A:p.E491K,ACACA:NM_198834:exon14:c.G1816A:p.E606K,ACACA:NM_198836:exon14:c.G1705A:p.E569K,ACACA:NM_198839:exon18:c.G1705A:p.E569K	Acetyl-CoA carboxylase deficiency, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.0171503242482	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.439	0.17696	T	0.746	0.44790	P	0.557	0.55725	P	0.000000	0.84330	D	0.000000	1	0.81001	D	1.885	0.50048	L	.	.	.	.	.	.	0.862	0.85872	0.107	0.84300	D	0.637	0.87289	D	10	0.7375028	0.74723	D	0.01715	0.38730	T	.	.	0.467	0.53891	0.877869702975	0.87668	0.9836152231955558	0.98353	.	.	0.872255206108	0.92889	D	0.780159	0.94189	D	0.432308	0.91648	D	0.383204	0.91545	D	0.977236747741699	0.71748	D	.	.	.	0.81459284	0.84857	0.6431959	0.79147	0.81459284	0.84859	0.6431959	0.79148	-9.549	0.74745	D	.	.	0.857	0.80134	P	.;.;.;.	.;.;.;.	5.294357	0.88888	29.8	0.9986442591158583	0.94276	0.98597	0.84519	D	AEFBI	0.820385	0.74119	D	0.627107990343815	0.74894	6.211086	0.69699622420893	0.82148	7.696462	0.999999997971713	0.74766	0.732398	0.92422	0	0.653731	0.59785	0	0.743671	0.96076	0	0.733575	0.97253	0	.	.	5.93	5.93	0.95888	7.905000	0.86479	7.642000	0.63248	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.996000	0.76049	0.0:1.0:0.0:0.0	19.342	0.94335	689	0.59000	.;.;Biotin carboxylase, C-terminal|Biotin carboxylation domain|Biotin carboxylase, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	11138.3	106	chr17	37257713	.	C	T	11138.3	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.65;DP=1868;ExcessHet=38.2876;FS=429.8;InbreedingCoeff=-0.9;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=6.26;ReadPosRankSum=-0.138;SOR=13.755	GT:AD:DP:GQ:PL	0/1:45,49:94:99:614,0,580	1	0	18	0
chr17	40291139	40291139	A	G	exonic	CDC6	.	nonsynonymous SNV	CDC6:NM_001254:exon3:c.A260G:p.H87R	.	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00339265989156	.	.	2.472e-05	0	0.0003	0	0	0	0	0	1.94e-05	3	154602	rs763169578	5.473e-06	5.472e-06	9.529e-06	1.375e-06	0.0002	2.35e-06	1.7e-06	7.281e-05	5.16e-05	2.987e-05	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.836	0.02840	T	0.564	0.08991	T	0.0	0.02946	B	0.0	0.01387	B	0.174631	0.17274	N	0.587355	0.999997	0.08975	N	-0.85	0.01485	N	0.92	0.44461	T	0.09	0.05917	N	0.01	0.00095	-1.0480	0.14960	T	0.034	0.14596	T	10	0.018920332	0.00416	T	0.003393	0.07603	T	0.031	0.07369	0.159	0.06287	0.393775345888	0.38992	0.11005166258663047	0.10934	0.230498149656	0.25597	0.224944710732	0.01615	T	0.010688	0.09625	T	-0.438516	0.01320	T	-0.598374	0.12948	T	0.0321142954523574	0.02324	T	0.360464	0.10010	T	0.01831639	0.00353	0.020786818	0.00155	0.01831639	0.00353	0.020786818	0.00155	-2.794	0.08128	T	.	.	0.052	0.00543	B	.;.;.;.;.;.	.;.;.;.;.;.	-0.388975	0.02254	0.231	0.17205590292563383	0.00492	0.01959	0.05945	N	AEFGBCIJ	0.024998	0.01638	N	-1.19828746920416	0.05026	0.2281752	-1.12191840804506	0.07283	0.3536424	0.999888274714594	0.44867	0.730579	0.87903	0	0.749866	0.99406	0	0.698795	0.65105	0	0.636	0.56748	0	.	.	5.52	-1.5	0.08233	0.115000	0.15373	0.202000	0.15863	-0.156000	0.11795	0.017000	0.19353	0.000000	0.08366	0.053000	0.15439	0.3401:0.1278:0.3466:0.1855	0.826	0.01050	350	0.85473	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	7670.33	41	chr17	40291139	.	A	G	7670.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.324;DP=1301;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.2;SOR=0.708	GT:AD:DP:GQ:PL	0/1:316,331:647:99:7684,0,7587	18	0	1	0
chr17	40779575	40779575	G	A	exonic	KRT27	.	nonsynonymous SNV	KRT27:NM_181537:exon5:c.C899T:p.A300V	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.461	0.14225005127	.	.	2.473e-05	0	0	0	0	1.5e-05	0.0011	6.058e-05	1.94e-05	3	154602	rs772002793	1.642e-05	1.642e-05	1.225e-05	2.063e-05	0.0002	1.111e-05	9.33e-06	1.093e-05	8.81e-06	0	0	0	5.038e-05	0	0.0002	1.709e-05	1.656e-05	1.159e-05	1.969e-05	1.968e-05	1.284e-05	2.685e-05	0.0006	5.24e-06	2.45e-06	0.0002	8.375e-05	0	0	0	0	0.0006	0	0	0	0	0	0.009	0.57480	D	0.087	0.40747	T	0.883	0.48537	P	0.566	0.49756	P	0.000015	0.62929	D	0.000000	0.610194	0.30867	N	2.39	0.68882	M	-2.48	0.89071	D	-2.68	0.57275	D	0.109	0.09490	0.528	0.90935	D	0.682	0.89000	D	10	0.2694285	0.44469	T	0.14225	0.82464	D	0.461	0.75822	.	.	0.62465077226	0.62159	0.4731274374558862	0.47231	0.625028188271	0.56690	0.463449835777	0.33783	T	0.442073	0.78637	T	-0.0361819	0.46514	T	-0.120621	0.61751	T	0.861661314964294	0.51203	D	0.937406	0.76468	D	0.4473892	0.63876	0.54527634	0.73715	0.4473892	0.63877	0.54527634	0.73716	-7.402	0.56919	T	.	.	0.183	0.39630	B	.	.	3.825224	0.55259	23.6	0.99923230658057349	0.98917	0.33339	0.24804	N	ALL	0.151501	0.27600	N	0.103775436966709	0.46639	2.90116	0.0444480222828003	0.41804	2.517681	0.999999899400488	0.74766	0.59774	0.34471	0	0.475579	0.06741	0	0.607795	0.38427	0	0.63947	0.58350	0	.	.	5.52	5.52	0.82153	-0.198000	0.09506	5.071000	0.47178	0.618000	0.50648	0.000000	0.06391	1.000000	0.68203	0.679000	0.33513	0.0:0.1514:0.8486:0.0	14.027	0.64111	65	0.97253	Intermediate filament, rod domain|Intermediate filament, rod domain|Intermediate filament, rod domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1654.33	37	chr17	40779575	.	G	A	1654.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.04;DP=1081;ExcessHet=0;FS=1.545;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.64;ReadPosRankSum=0.129;SOR=0.52	GT:AD:DP:GQ:PL	0/1:46,67:113:99:1668,0,972	18	0	1	0
chr17	42040181	42040181	C	T	exonic	C17orf113	.	nonsynonymous SNV	C17orf113:NM_001358661:exon3:c.G1552A:p.A518T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1262611863	0	4.104e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.571e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.999994	0.08975	N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.18257254	0.33543	T	.	.	.	.	.	.	.	.	.	0.33932591832900727	0.33845	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.570043	0.20293	T	0.05215316	0.09685	0.25041515	0.50632	0.05215316	0.09685	0.25041515	0.50631	-5.306	0.40003	T	.	.	0.103	0.18331	B	.	.	2.241371	0.28623	17.86	0.93650470231375504	0.23534	0.32445	0.24587	N	AEFDBI	.	.	.	.	.	.	.	.	.	0.605880491523443	0.21764	0.11394	0.02926	0	0.097471	0.02872	0	0.099915	0.03048	0	0.166187	0.04126	0	0.221137	0.31374	4.98	2.95	0.33285	1.288000	0.32901	1.030000	0.23473	0.599000	0.40250	0.945000	0.32849	0.347000	0.24452	0.771000	0.36558	0.4361:0.4792:0.0:0.0847	6.816	0.23015	489	0.76795	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.08333	35.98	.	chr17	42040181	.	C	T	35.98	.	AC=2;AF=0.083;AN=24;DP=28;ExcessHet=0;FS=0;InbreedingCoeff=0.2841;MLEAC=2;MLEAF=0.083;MQ=60;QD=17.99;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	11	1	0	7
chr17	42844870	42844870	G	A	exonic	AOC2	.	nonsynonymous SNV	AOC2:NM_001158:exon1:c.G244A:p.A82T,AOC2:NM_009590:exon1:c.G244A:p.A82T	.	423	1098	1	0	0	1	0.000455166	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00655830723686	0.0018	0.000399361	0.0010	0.0004	0.0005	0	0	0.0017	0	0.0003	0.0010026	155	154602	rs139603521	0.0020	0.0020	0.0021	0.0019	0.0025	0.0020	0.0019	0.0024	0.0024	0.0003	0.0003	3.841e-05	0	3.761e-05	0	0.0025	0.0016	0.0003	0.0011	0.0011	0.0012	0.0009	0.0020	0.0009	0.0009	0.0018	0.0017	0.0005	0	0.0002	0	0	0	0	0.0020	0.0009	0.0004	0.011	0.56456	D	0.087	0.40909	T	0.981	0.59675	D	0.824	0.59271	P	0.006259	0.32164	N	0.344745	0.989278	0.40921	D	2.155	0.60227	M	1.45	0.32482	T	-1.64	0.39314	N	0.218	0.31365	-1.0932	0.05020	T	0.110	0.39699	T	10	0.013290256	0.00282	T	0.006558	0.17301	T	0.098	0.28162	.	.	0.462809833587	0.45907	0.345807186843991	0.34494	0.0512075118454	0.05634	0.418348014355	0.27610	T	0.141816	0.47708	T	-0.37543	0.03328	T	-0.325286	0.41992	T	0.0612307800964604	0.07361	T	0.940639	0.78384	D	0.3065857	0.53489	0.34650066	0.60317	0.3065857	0.53489	0.34650066	0.60317	-8.748	0.66172	D	.	.	0.108	0.26074	B	.;.	.;.	3.466656	0.48348	22.6	0.99905248291443438	0.97576	0.67187	0.33342	D	AEFDGBHCI	0.220830	0.34553	N	0.286382581808364	0.55457	3.709818	0.266739338718964	0.53608	3.528884	0.996816991095992	0.35031	0.372202	0.05800	0	0.379588	0.06130	0	0.486962	0.07600	0	0.491896	0.07777	0	.	.	4.99	4.99	0.65942	1.492000	0.35203	5.493000	0.48753	0.590000	0.31872	0.072000	0.22128	1.000000	0.68203	0.982000	0.59238	0.0796:0.0:0.9204:0.0	11.885	0.51876	262	0.89730	Copper amine oxidase, N2-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	0.000504	0.005051	0.001359	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1490.33	42	chr17	42844870	.	G	A	1490.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.4;DP=770;ExcessHet=0;FS=3.441;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.19;ReadPosRankSum=-0.975;SOR=0.794	GT:AD:DP:GQ:PL	0/1:60,53:113:99:1504,0,1543	18	0	1	0
chr17	43091492	43091492	T	C	exonic	BRCA1	.	nonsynonymous SNV	BRCA1:NM_007297:exon9:c.A3898G:p.R1300G,BRCA1:NM_007294:exon10:c.A4039G:p.R1347G,BRCA1:NM_007300:exon10:c.A4039G:p.R1347G	.	0	1521	1	0	0	1	0.000328623	.	.	YES	50260	Hereditary_cancer-predisposing_syndrome|Hereditary_breast_ovarian_cancer_syndrome|not_specified|Breast-ovarian_cancer,_familial,_susceptibility_to,_1|Familial_cancer_of_breast|BRCA1-related_cancer_predisposition|not_provided|Breast_and/or_ovarian_cancer	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphanet:140162|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776,Orphanet:145|MedGen:CN169374|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370,Orphanet:145|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Orphanet:227535|MONDO:MONDO:0700268,MedGen:CN377757|MedGen:C3661900|MedGen:CN221562	reviewed_by_expert_panel	Benign	.	.	.	.	.	.	.	.	0.527	0.286124731888	0.0048	0.000599042	0.0040	0.0011	0.0012	0	0.0012	0.0064	0.0022	0.0011	0.0042108	651	154602	rs28897689	0.0060	0.0060	0.0062	0.0057	0.0072	0.0058	0.0058	0.0071	0.0070	0.0007	0.0017	0.0009	0	0.0025	0.0003	0.0072	0.0051	0.0010	0.0041	0.0041	0.0045	0.0036	0.0064	0.0038	0.0037	0.0059	0.0057	0.0016	0.0329	0.0031	0.0020	0	0.0018	0	0.0064	0.0028	0.0010	0.175	0.24372	T	0.358	0.57587	T	0.255	0.31319	B	0.071	0.27960	B	0.017996	0.27589	N	0.312698	1	0.21331	N	2.135	0.59519	M	-2.36	0.89071	D	-0.82	0.27876	N	0.358	0.53972	-0.3762	0.72770	T	0.450	0.78455	T	10	0.007952005	0.00181	T	0.286125	0.90402	D	0.527	0.80007	.	.	0.849029446195	0.84758	0.15429102817380136	0.15350	0.351719312492	0.37009	0.252207577229	0.04004	T	0.185094	0.53796	T	-0.150285	0.28267	T	0.0176056	0.71475	D	0.00815700555301208	0.00097	T	0.90161	0.67446	D	0.08395542	0.19409	0.078762874	0.17672	0.06657545	0.14336	0.088083625	0.20515	-3.011	0.10629	T	0.4744641287373242	0.55430	0.118	0.24226	B	.;.;.;.	.;.;.;.	2.263087	0.28918	17.95	0.99127449213642682	0.53169	0.64987	0.32587	D	AEFDBI	0.334199	0.43304	N	-0.344752951647033	0.27465	1.507092	-0.293686868165548	0.28305	1.577321	0.893887537960173	0.25916	0.651	0.46895	0	0.653731	0.59785	0	0.608884	0.39905	0	0.683762	0.67416	0	.	.	5.19	2.98	0.33575	1.192000	0.31759	0.577000	0.19666	0.665000	0.62972	0.992000	0.37556	0.672000	0.26072	0.779000	0.36868	0.0:0.0819:0.1624:0.7557	6.180	0.19678	520	0.74355	.;.;.;.	.	.	.	.	.	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	0.001511	0.005051	0.001359	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1581.33	58	chr17	43091492	.	T	C	1581.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.253;DP=1211;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.25;ReadPosRankSum=1.69;SOR=0.629	GT:AD:DP:GQ:PL	0/1:50,61:111:99:1595,0,1275	18	0	1	0
chr17	47709136	47709136	G	A	exonic	TBKBP1	.	nonsynonymous SNV	TBKBP1:NM_014726:exon8:c.G1403A:p.G468D	.	418	1102	2	0	0	2	0.000906618	.	.	.	2335028	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.239	.	.	.	0.0015	0	0.0625	0	.	0.0052	0	0	0.0001876	29	154602	rs775256886	0.0006	0.0006	0.0005	0.0006	0.0006	0.0006	0.0005	0.0005	0.0005	0	0.0006	5.543e-05	0	0.0033	0	0.0005	0.0007	0.0006	0.0010	0.0010	0.0010	0.0011	0.0014	0.0009	0.0008	0.0012	0.0011	7.239e-05	0	0.0003	0	0	0.0045	0	0.0014	0.0005	0.0006	0.049	0.39820	D	0.077	0.42436	T	0.963	0.55692	D	0.543	0.48966	P	0.011325	0.29573	N	0.270973	0.703	0.33441	D	1.1	0.28011	L	.	.	.	-1.34	0.33401	N	0.192	0.21056	-0.9736	0.36431	T	0.068	0.27743	T	9	0.0058056414	0.00130	T	.	.	.	0.239	0.54358	.	.	0.42264334713	0.41881	0.4413664330979873	0.44053	0.490862917705	0.47796	0.881544947624	0.94168	D	0.025936	0.19295	T	-0.383429	0.02964	T	-0.32691	0.41813	T	0.0356503401053711	0.02920	T	0.50325	0.15827	T	0.11147152	0.26341	0.13702852	0.32765	0.11147152	0.26341	0.13702852	0.32764	-4.267	0.27712	T	.	.	0.213	0.44201	B	.	.	3.236578	0.44165	21.9	0.9953256374132502	0.69963	0.75411	0.36921	D	AEFDBIJ	0.127172	0.24442	N	-0.00931878525804322	0.41433	2.478175	-0.0283002919643793	0.38443	2.264921	0.999856974192074	0.44174	0.652421	0.48094	0	0.588066	0.40923	0	0.64067	0.45733	0	0.491896	0.07777	0	.	.	3.32	3.32	0.37134	1.861000	0.39078	9.189000	0.79120	0.564000	0.28548	0.962000	0.33725	1.000000	0.68203	0.144000	0.20092	0.2452:0.0:0.7548:0.0	5.754	0.17428	414	0.81871	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	964.83	34	chr17	47709136	.	G	A	964.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.224;DP=584;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.7;ReadPosRankSum=-0.846;SOR=0.624	GT:AD:DP:GQ:PL	0/1:17,25:42:99:598,0,430	17	0	2	0
chr17	48121356	48121356	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C637A:p.P213T,SNX11:NM_013323:exon7:c.C661A:p.P221T,SNX11:NM_152244:exon8:c.C661A:p.P221T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.043	0.0159330116532	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.72154	D	0.047	0.48855	D	0.0	0.02946	B	0.001	0.04355	B	0.519184	0.11761	N	0.791293	1	0.08975	N	0.83	0.20963	L	-0.12	0.64630	T	-2.48	0.54059	N	0.051	0.07535	-0.9422	0.42266	T	0.149	0.47646	T	10	0.05349794	0.05550	T	0.015933	0.36930	T	0.043	0.11576	0.245	0.17984	0.484037581386	0.48037	0.20804343813926002	0.20720	0.119574652239	0.13463	0.277193725109	0.07105	T	0.018771	0.15074	T	-0.154878	0.27551	T	-0.460248	0.26572	T	0.0746949621828903	0.09294	T	0.636336	0.25296	T	0.056769192	0.11213	0.04533935	0.06077	0.056769192	0.11213	0.04533935	0.06077	-4.775	0.34298	T	.	.	0.086	0.10449	B	.;.;.;.;.;.	.;.;.;.;.;.	1.571688	0.20120	14.60	0.88267484273534103	0.17844	0.12360	0.17221	N	AEFBCI	0.058696	0.11030	N	-0.874749041110592	0.11446	0.5523798	-0.865441052805161	0.12917	0.6672158	1.15678767451762E-4	0.05269	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	1.38	0.21262	0.184000	0.16748	-0.242000	0.10582	-0.182000	0.10109	0.001000	0.13787	0.000000	0.08366	0.702000	0.34203	0.1396:0.5611:0.1359:0.1634	3.471	0.07134	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	58.33	37	chr17	48121356	.	C	A	58.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.254;DP=828;ExcessHet=0;FS=55.148;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=2.61;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,16:172:72:0|1:48121356_C_A:72,0,6266:48121356	18	0	1	0
chr17	48121357	48121357	C	A	exonic	SNX11	.	nonsynonymous SNV	SNX11:NM_001330320:exon7:c.C638A:p.P213H,SNX11:NM_013323:exon7:c.C662A:p.P221H,SNX11:NM_152244:exon8:c.C662A:p.P221H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.103	0.0380915237209	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.006	0.70582	D	0.003	0.11197	B	0.006	0.12133	B	0.519184	0.11761	N	0.791293	1	0.08975	N	1.525	0.38595	L	-0.16	0.65378	T	-1.8	0.42384	N	0.072	0.07811	-0.8604	0.51234	T	0.190	0.54108	T	10	0.08495718	0.14292	T	0.038092	0.58018	D	0.103	0.29403	0.238	0.16912	0.628906646486	0.62587	0.19977760881024514	0.19894	0.348915321359	0.36754	0.285802483559	0.08314	T	0.020125	0.15899	T	-0.0926007	0.37648	T	-0.370791	0.36796	T	0.627367913722992	0.37509	D	0.654835	0.26791	T	0.122885406	0.28868	0.19311786	0.42863	0.122885406	0.28867	0.19311786	0.42862	-5.551	0.42342	T	.	.	0.126	0.26731	B	.;.;.;.;.;.	.;.;.;.;.;.	2.348791	0.30108	18.34	0.98115172472137657	0.38383	0.09630	0.15343	N	AEFBCI	0.042106	0.06491	N	-0.555678256585635	0.20306	1.069478	-0.525915723664836	0.21451	1.160465	0.00168031574263526	0.08770	0.706548	0.73137	0	0.702456	0.74545	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	6.16	4.07	0.46726	0.201000	0.17074	1.213000	0.24921	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.687000	0.33748	0.3268:0.6732:0.0:0.0	11.497	0.49664	831	0.39019	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	58.33	37	chr17	48121357	.	C	A	58.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.815;DP=829;ExcessHet=0;FS=55.148;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.34;ReadPosRankSum=2.58;SOR=5.668	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:156,16:172:72:0|1:48121356_C_A:72,0,6266:48121356	18	0	1	0
chr17	50684024	50684024	A	G	exonic	ABCC3	.	nonsynonymous SNV	ABCC3:NM_003786:exon28:c.A4030G:p.K1344E	.	412	1101	9	0	0	9	0.00407056	.	.	.	727288	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.226	0.0163037891783	0.0005	0.000998403	0.0015	9.649e-05	0.0009	0	0	0.0008	0	0.0071	0.0012807	198	154602	rs150601692	0.0008	0.0008	0.0006	0.0010	0.0073	0.0007	0.0007	0.0069	0.0067	5.988e-05	0.0009	0.0069	0	0	0.0019	0.0002	0.0012	0.0073	0.0005	0.0005	0.0006	0.0005	0.0031	0.0005	0.0004	0.0019	0.0016	0.0001	0	0.0009	0.0058	0	0	0	0.0004	0	0.0031	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.005	0.11217	B	0.012046	0.29308	N	0.385040	1	0.08975	N	-0.89	0.01422	N	-3.1	0.92667	D	1.32	0.00925	N	0.087	0.06454	-0.6892	0.60945	T	0.403	0.75374	T	10	0.0060821474	0.00137	T	0.016304	0.37489	T	0.226	0.52472	.	.	0.559310644637	0.55592	0.4723890345879636	0.47157	0.217223232135	0.24242	0.277645945549	0.07166	T	0.174411	0.52362	T	-0.413208	0.01893	T	-0.362036	0.37817	T	0.008964396830968	0.00112	T	0.746025	0.36642	T	0.11902573	0.28033	0.07449888	0.16304	0.11902573	0.28033	0.07449888	0.16304	-0.851	0.00848	T	.	.	0.054	0.00303	B	.	.	1.029159	0.14089	10.66	0.4518754786010718	0.03528	0.03985	0.09401	N	AEFDBHCI	0.189402	0.31666	N	-1.11157312016442	0.06436	0.2962772	-0.986852560017786	0.10080	0.5054526	0.999985598095602	0.51787	0.554377	0.28877	0	0.588066	0.40923	0	0.608075	0.38828	0	0.567892	0.33627	0	.	.	5.24	2.06	0.25932	1.457000	0.34822	2.000000	0.30117	-0.137000	0.12594	0.003000	0.16062	0.960000	0.29291	0.977000	0.56843	0.2169:0.1322:0.6509:0.0	7.713	0.27855	882	0.29131	ABC transporter-like|ABC transporter-like|AAA+ ATPase domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.002016	0.000000	0.004076	0.000000	0.000000	0.000000	0.003049	0.000000	0.02632	1287.33	33	chr17	50684024	.	A	G	1287.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.939;DP=759;ExcessHet=0;FS=2.388;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.49;ReadPosRankSum=0.515;SOR=0.791	GT:AD:DP:GQ:PL	0/1:58,54:112:99:1301,0,1481	18	0	1	0
chr17	50699525	50699525	A	G	exonic	ANKRD40	.	nonsynonymous SNV	ANKRD40:NM_052855:exon3:c.T652C:p.S218P	.	427	1094	1	0	0	1	0.00045683	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.042	.	0.0008	0.00758786	0.0054	0.0010	0.0320	0.0290	0	0.0002	0.0044	0.0001	0.0048706	753	154602	rs142677234	0.0021	0.0021	0.0023	0.0020	0.0418	0.0021	0.0021	0.0401	0.0395	0.0004	0.0273	3.826e-05	0.0418	0	0.0002	0.0001	0.0014	0.0002	0.0022	0.0022	0.0020	0.0024	0.0307	0.0020	0.0019	0.0268	0.0253	0.0008	0	0.0078	0	0.0307	0	0	0.0002	0.0019	0.0012	0.309	0.14064	T	0.3	0.20357	T	0.006	0.13644	B	0.005	0.11217	B	0.131000	0.18639	N	0.572025	1	0.08975	N	0.55	0.14455	N	1.94	0.22678	T	-0.03	0.07444	N	0.318	0.35832	-1.0198	0.23780	T	0.007	0.02244	T	10	0.002810359	0.00044	T	.	.	.	0.042	0.11227	.	.	0.0762999501168	0.06990	0.331465384315282	0.33059	0.373130535319	0.38784	0.47111082077	0.34834	T	0.004269	0.03680	T	-0.628763	0.00097	T	-0.629615	0.10444	T	0.00453025773363421	0.00048	T	0.657134	0.26688	T	0.038579755	0.05166	0.07057054	0.15008	0.038579755	0.05166	0.07057054	0.15008	-2.913	0.09274	T	.	.	0.071	0.03773	B	.	.	2.266156	0.28962	17.97	0.98939934627955162	0.48921	0.09326	0.15105	N	ALL	0.062019	0.11895	N	-0.638960625387119	0.17782	0.9179925	-0.481256626516533	0.22671	1.232507	0.999999994372576	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.17	2.86	0.32427	0.481000	0.21969	6.127000	0.53864	0.756000	0.94297	0.000000	0.06391	1.000000	0.68203	0.991000	0.66497	0.3765:0.2815:0.0821:0.2599	1.469	0.02266	878	0.29785	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001007	0.000000	0.000000	0.000000	0.000000	0.000000	0.003049	0.003788	0.02632	1935.33	35	chr17	50699525	.	A	G	1935.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.506;DP=797;ExcessHet=0;FS=3.831;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.82;ReadPosRankSum=0.138;SOR=0.531	GT:AD:DP:GQ:PL	0/1:69,82:151:99:1949,0,1801	18	0	1	0
chr17	61968034	61968034	C	G	splicing	MED13	NM_005121:exon18:c.4191+1G>C	.	.	.	.	.	.	.	.	.	.	1.0000	0.938	YES	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.588e-05	0.0003	2.232e-05	2.945e-05	3.23e-05	1.91e-05	1.667e-05	2.345e-05	2.075e-05	3.058e-05	0	0	0	0	0	3.23e-05	1.685e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.434982	0.91780	D	0.387045	0.91678	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.230299	0.94839	34	0.99425828103495784	0.63984	0.99078	0.90902	D	AEFDGBI	.	.	.	1.18346581302745	0.99385	22.32749	1.03762206024886	0.99231	21.357	0.999999999803192	0.74766	0.156188	0.03335	0	0.156173	0.03658	0	0.128073	0.03558	0	0.089874	0.02613	0	0.978971	0.83387	5.44	5.44	0.79348	7.568000	0.81546	7.706000	0.66547	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.997000	0.79791	0.0:1.0:0.0:0.0	19.245	0.93883	91	0.96221	.	.	.	.	.	.	Uncertain significance	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2895	691.29	68	chr17	61968034	.	C	G	691.29	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-0.705;DP=1218;ExcessHet=25.4433;FS=198.029;InbreedingCoeff=-0.6911;MLEAC=11;MLEAF=0.289;MQ=60;MQRankSum=0;QD=0.76;ReadPosRankSum=1.43;SOR=10.515	GT:AD:DP:GQ:PL	0/1:36,26:67:99:106,0,473	8	0	11	0
chr17	63941038	63941038	C	G	exonic	SCN4A	.	nonsynonymous SNV	SCN4A:NM_000334:exon24:c.G5244C:p.K1748N	Hyperkalemic periodic paralysis, type 2, Autosomal dominant;Hypokalemic periodic paralysis, type 2, Autosomal dominant;Myasthenic syndrome, congenital, 16, Autosomal recessive;Myotonia congenita, atypical, acetazolamide-responsive, Autosomal dominant;Paramyotonia congenita, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.580	0.303557141155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.468e-05	0.0004	3.138e-05	1.791e-05	5.983e-05	1.807e-05	1.604e-05	2.122e-05	1.866e-05	5.983e-05	0	0	2.52e-05	0	0	2.975e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.008	0.67890	D	0.996	0.68779	D	0.918	0.65394	D	0.001323	0.39379	N	0.266717	0.981377	0.39770	D	3.46	0.92336	M	-4.04	0.96465	D	-2.91	0.60982	D	0.415	0.45520	1.043	0.97979	D	0.927	0.97601	D	10	0.6123196	0.67513	D	0.303557	0.90961	D	0.580	0.83081	0.384	0.40298	0.898534176303	0.89752	0.5995780334703891	0.59888	0.692431633833	0.60665	0.752315163612	0.74788	T	0.685387	0.90803	D	0.120235	0.66394	D	-0.0650671	0.65976	T	0.989463925361633	0.79699	D	0.831017	0.49766	T	0.7440135	0.80523	0.5270589	0.72675	0.7440135	0.80524	0.5270589	0.72675	-7.785	0.59595	D	0.2770756796120702	0.37175	0.930	0.85031	P	.	.	3.060384	0.41100	21.3	0.99839407367986555	0.91972	0.85331	0.44454	D	AEFDBI	0.586077	0.58426	D	0.579656383859094	0.71907	5.72267	0.473874561743895	0.66263	4.929493	0.870675316718076	0.25410	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.89	3.89	0.44098	0.425000	0.21065	0.146000	0.15234	0.599000	0.40250	0.993000	0.37899	0.937000	0.28687	0.926000	0.46234	0.0:0.9002:0.0:0.0998	9.244	0.36672	834	0.38640	IQ motif, EF-hand binding site	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1	239.62	33	chr17	63941038	.	C	G	239.62	.	AC=3;AF=0.1;AN=30;BaseQRankSum=-5.535;DP=3325;ExcessHet=0.3672;FS=296.962;InbreedingCoeff=-0.1451;MLEAC=3;MLEAF=0.1;MQ=60;MQRankSum=0;QD=0.39;ReadPosRankSum=0.198;SOR=11.144	GT:AD:DP:GQ:PL	0/1:145,64:209:99:120,0,2807	12	0	3	4
chr17	73232240	73232240	G	C	exonic	FAM104A	.	nonsynonymous SNV	FAM104A:NM_001098832:exon1:c.C67G:p.P23A,FAM104A:NM_001289410:exon1:c.C67G:p.P23A,FAM104A:NM_001289411:exon1:c.C67G:p.P23A,FAM104A:NM_032837:exon1:c.C67G:p.P23A	.	434	1068	20	0	0	20	0.00927644	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.156	0.0417095240966	0.0044	0.00239617	0.0039	0.0018	0.0019	0	0.0003	0.0062	0.0062	0.0013	0.0038098	589	154602	rs180917408	0.0058	0.0058	0.0059	0.0058	0.0141	0.0057	0.0057	0.0116	0.0107	0.0010	0.0024	0.0025	2.523e-05	0.0005	0.0141	0.0070	0.0048	0.0016	0.0039	0.0040	0.0043	0.0036	0.0065	0.0037	0.0036	0.0060	0.0058	0.0015	0	0.0045	0.0020	0	0.0003	0.0136	0.0065	0.0043	0.0004	0.108	0.29420	T	0.091	0.49942	T	0.705	0.41986	P	0.359	0.43123	B	.	.	.	.	0.842808	0.28607	N	0.805	0.20218	L	0.55	0.58176	T	-0.7	0.21644	N	0.412	0.48504	-1.0613	0.11434	T	0.062	0.25672	T	9	0.007984251	0.00181	T	0.04171	0.60073	D	0.156	0.40720	.	.	0.46763814438	0.46390	0.166938773126972	0.16613	0.370701444111	0.38581	0.722039461136	0.70343	T	0.027087	0.40233	T	-0.356881	0.04309	T	-0.282522	0.46546	T	0.066659530329254	0.08175	T	0.662834	0.41282	T	0.0840635	0.19440	0.12637298	0.30437	0.0840635	0.19439	0.12637298	0.30436	-2.866	0.08828	T	.	.	0.064	0.11845	B	.;.;.;.	.;.;.;.	4.039256	0.59786	24.1	0.98713176618007037	0.45083	0.66195	0.32994	D	AEFGBHCIJ	0.134599	0.25467	N	-0.387578163074751	0.25910	1.410121	-0.368279065433257	0.25948	1.43021	0.999999999999999	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.519653	0.09787	0	0.372554	0.06265	0	.	.	5.0	3.01	0.33872	4.367000	0.59270	6.267000	0.55357	0.651000	0.53179	0.985000	0.35982	1.000000	0.68203	0.965000	0.52897	0.094:0.0:0.7203:0.1857	6.088	0.19200	416	0.81733	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1212.33	33	chr17	73232240	.	G	C	1212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.699;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=16.38;ReadPosRankSum=-1.304;SOR=0.676	GT:AD:DP:GQ:PL	0/1:28,46:74:99:1226,0,663	18	0	1	0
chr17	74352090	74352090	G	A	exonic	KIF19	.	nonsynonymous SNV	KIF19:NM_153209:exon13:c.G1811A:p.R604H	.	425	1095	2	0	0	2	0.000912409	.	.	.	4162209	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.454	0.11274867132	.	.	6.275e-05	0	0	0	0	6.635e-05	0	0.0002	3.88e-05	6	154602	rs751181401	4.804e-05	5.746e-05	4.557e-05	5.057e-05	0.0014	3.861e-05	3.538e-05	0.0007	0.0005	0	0	0	0	0	0.0014	4.548e-05	5.07e-05	9.498e-05	3.943e-05	3.94e-05	5.14e-05	2.69e-05	8.822e-05	1.715e-05	1.129e-05	3.763e-05	2.576e-05	0	0	0	0	0	0	0	8.822e-05	0	0	0.005	0.68238	D	0.007	0.72224	D	1.0	0.90584	D	0.911	0.64720	D	.	.	.	.	0.986212	0.40398	D	2.25	0.63811	M	-1.07	0.76948	T	-3.44	0.67477	D	0.501	0.53357	0.023	0.82713	D	0.543	0.83185	D	9	0.6966524	0.72186	D	0.112749	0.79101	D	0.454	0.75347	.	.	0.866393452379	0.86509	0.5082054158008243	0.50742	0.692638023041	0.60672	0.696526288986	0.66643	T	0.161279	0.50546	T	-0.0738029	0.40718	T	-0.157252	0.58598	T	0.64294707775116	0.38162	D	0.937906	0.76702	D	0.22547206	0.45209	0.34943947	0.60568	0.22547206	0.45209	0.34943947	0.60568	-7.243	0.55789	T	.	.	0.113	0.22171	B	.;.	.;.	4.856349	0.79421	27.1	0.99787611174535229	0.87396	0.80297	0.39972	D	AEFDGBHCI	0.733681	0.68004	D	0.180758678058837	0.50275	3.219167	0.0709012440406634	0.43093	2.618277	0.999999896685694	0.74766	0.59774	0.34471	0	0.563428	0.19063	0	0.503968	0.08637	0	0.63947	0.58350	0	.	.	5.36	3.36	0.37579	6.297000	0.72735	8.721000	0.78162	0.662000	0.56354	1.000000	0.71638	1.000000	0.68203	0.051000	0.15275	0.0759:0.0:0.7811:0.1429	9.491	0.38121	777	0.48198	.;.	.	.	.	.	.	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	0.002024	0.000000	0.004076	0.002924	0.000000	0.000000	0.000000	0.003788	0.02632	1351.33	33	chr17	74352090	.	G	A	1351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.825;DP=726;ExcessHet=0;FS=0.835;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=-0.386;SOR=0.585	GT:AD:DP:GQ:PL	0/1:36,55:91:99:1365,0,835	18	0	1	0
chr17	74893569	74893569	A	0	exonic	FADS6	.	.	.	.	427	899	3	0	193	196	0.00166574	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1842	810.55	60	chr17	74893569	.	A	*	810.55	.	AC=7;AF=0.184;AN=38;BaseQRankSum=0.891;DP=1146;ExcessHet=0.6689;FS=3.245;InbreedingCoeff=0.0483;MLEAC=7;MLEAF=0.184;MQ=59.31;MQRankSum=-2.9;QD=2.05;ReadPosRankSum=2.93;SOR=0.97	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:40,29:69:99:1|0:74893497_C_CGGTTCCATGGGCTCCGTA:940,0,1442:74893497	13	1	5	0
chr17	75991600	75991600	T	A	exonic	TEN1	.	nonsynonymous SNV	TEN1:NM_001113324:exon3:c.T227A:p.L76H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.492	0.0438968889457	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	.	.	.	.	.	.	0.000765	0.41888	U	0.000000	0.66037	0.81001	D	2.83	0.82355	M	.	.	.	-6.26	0.90608	D	0.886	0.88466	-0.1105	0.79856	T	0.333	0.70043	T	9	0.88374996	0.87694	D	0.043897	0.61216	D	0.492	0.77847	.	.	0.245101548738	0.24120	0.8828770626978398	0.88255	.	.	.	.	.	0.332305	0.70229	T	0.406376	0.90279	D	0.345954	0.90157	D	0.956735193729401	0.64832	D	.	.	.	0.7579091	0.81330	0.7047212	0.82594	0.7579091	0.81331	0.7047212	0.82595	-9.763	0.72480	D	.	.	0.826	0.78536	P	.	.	3.768015	0.54107	23.4	0.98426456276621321	0.41343	0.95243	0.63969	D	AEFDBI	0.579945	0.58055	D	0.540927760007335	0.69532	5.370235	0.483115440172343	0.66872	5.008867	0.975243016747257	0.29615	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.2	5.2	0.71720	4.872000	0.62744	7.538000	0.60033	0.609000	0.47794	0.615000	0.27871	1.000000	0.68203	0.209000	0.22154	0.0:0.0:0.0:1.0	13.581	0.61367	718	0.55760	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1769.33	34	chr17	75991600	.	T	A	1769.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.962;DP=782;ExcessHet=0;FS=4.674;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.72;ReadPosRankSum=-1.633;SOR=0.366	GT:AD:DP:GQ:PL	0/1:61,68:129:99:1783,0,1700	18	0	1	0
chr17	76017851	76017851	C	T	exonic	EVPL	.	nonsynonymous SNV	EVPL:NM_001320747:exon14:c.G1664A:p.R555Q,EVPL:NM_001988:exon14:c.G1598A:p.R533Q	.	423	1098	1	0	0	1	0.000455166	.	.	.	2347886	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.042	0.0132275582795	0.0003	.	0.0002	0.0002	8.663e-05	0.0001	0.0002	0.0001	0	0.0010	0.000194	30	154602	rs148670879	0.0001	0.0001	9.802e-05	0.0001	0.0006	9.536e-05	9.017e-05	0.0005	0.0005	5.974e-05	0.0001	0	7.557e-05	1.877e-05	0.0005	6.834e-05	0.0002	0.0006	9.196e-05	9.193e-05	0.0001	8.066e-05	0.0003	5.526e-05	4.363e-05	8.874e-05	5.384e-05	2.412e-05	0	0.0003	0	0	0	0	0.0001	0	0	0.518	0.07307	T	0.715	0.05434	T	0.008	0.14655	B	0.002	0.06944	B	0.375595	0.13463	N	0.714751	1	0.08975	N	-0.205	0.04094	N	0.01	0.62762	T	-0.31	0.12099	N	0.136	0.16586	-0.9795	0.35117	T	0.092	0.35201	T	10	0.020521015	0.00474	T	0.013228	0.32470	T	0.042	0.11227	.	.	0.314716216878	0.31082	0.055409354603118376	0.05481	0.21452012786	0.23985	0.193342387676	0.00290	T	0.08595	0.37616	T	-0.573556	0.00211	T	-0.64709	0.09160	T	0.00685284080327761	0.00077	T	0.490951	0.18022	T	0.028963035	0.02316	0.054091576	0.09236	0.028963035	0.02316	0.054091576	0.09236	-3.248	0.13076	T	.	.	0.063	0.03811	B	.;.	.;.	-0.000635	0.04276	1.068	0.93347027460177623	0.23079	0.07511	0.13526	N	AEFDBI	0.099232	0.19980	N	-1.23065619054583	0.04561	0.2061006	-1.14969600624976	0.06773	0.327179	0.00174666228405931	0.08839	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.562822	0.20929	0	.	.	4.88	-2.89	0.05326	0.054000	0.14087	-6.289000	0.01441	-2.004000	0.00446	0.000000	0.06391	0.000000	0.08366	0.635000	0.32288	0.0:0.4638:0.0:0.5362	12.188	0.53561	700	0.57880	.;.	.	.	.	.	.	Likely benign	0	0	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	.	.	.	.	.	.	.	.	0.02632	674.33	34	chr17	76017851	.	C	T	674.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.566;DP=707;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=2.1;SOR=0.759	GT:AD:DP:GQ:PL	0/1:35,32:67:99:688,0,862	18	0	1	0
chr17	78125771	78125771	G	A	exonic	TMC6	.	nonsynonymous SNV	TMC6:NM_001127198:exon5:c.C385T:p.R129C,TMC6:NM_001321185:exon5:c.C385T:p.R129C,TMC6:NM_001374593:exon5:c.C385T:p.R129C,TMC6:NM_001374594:exon5:c.C385T:p.R129C,TMC6:NM_001374596:exon5:c.C385T:p.R129C,TMC6:NM_001375353:exon5:c.C385T:p.R129C,TMC6:NM_001375354:exon5:c.C385T:p.R129C,TMC6:NM_007267:exon5:c.C385T:p.R129C	Epidermodysplasia verruciformis, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	3920904	Inborn_genetic_diseases	MeSH:D030342,MedGen:C0950123	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.214	0.286211315694	.	.	4.244e-05	0	0	0	0	0	0	0.0001	1.29e-05	2	154602	rs771251537	1.201e-05	2.463e-05	1.119e-05	1.286e-05	0.0002	7.32e-06	5.98e-06	8.898e-05	6.269e-05	0	2.593e-05	0	0.0002	0	0	4.594e-06	1.707e-05	3.73e-05	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0002	2.107e-05	1.526e-05	1.171e-05	6.25e-06	4.81e-05	0	0	0	0.0002	0	0	4.41e-05	0	0.0002	0.006	0.72154	D	0.095	0.76473	T	0.182	0.41986	B	0.018	0.33146	B	.	.	.	.	0.999945	0.81001	D	2.115	0.58683	M	0.54	0.54911	T	-3.8	0.79229	D	0.651	0.66443	-0.8115	0.54460	T	0.132	0.44445	T	9	0.5306772	0.63165	D	0.286211	0.90405	D	0.214	0.50650	0.69	0.82748	0.407357902709	0.40350	0.6327032102732578	0.63204	0.265866858698	0.29137	0.640848338604	0.58685	T	0.129709	0.48659	T	0.0850667	0.62629	D	-0.115584	0.62163	T	0.299395650625229	0.24978	T	0.917308	0.70348	D	0.2511442	0.48121	0.18166097	0.41044	0.2511442	0.48121	0.18166097	0.41043	-6.0	0.46280	T	.	.	0.104	0.26482	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.671030	0.74647	26.2	0.99782416392012241	0.86867	0.86740	0.46086	D	AEFDBHCI	0.733042	0.67961	D	-0.0510571197288646	0.39556	2.33451	-0.0440903592110355	0.37746	2.214331	0.999999998939079	0.74766	0.695654	0.57023	0	0.672317	0.65289	0	0.723109	0.80598	0	0.635551	0.53088	0	.	.	4.02	3.03	0.34070	3.484000	0.52965	8.152000	0.76714	0.674000	0.70861	0.927000	0.32177	1.000000	0.68203	0.484000	0.28656	0.1012:0.0:0.8988:0.0	9.868	0.40323	846	0.36215	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	3612.83	36	chr17	78125771	.	G	A	3612.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.677;DP=975;ExcessHet=0.119;FS=1.927;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.88;ReadPosRankSum=-0.725;SOR=0.583	GT:AD:DP:GQ:PL	0/1:80,76:156:99:1772,0,1860	17	0	2	0
chr17	80344886	80344886	A	G	exonic	RNF213	.	nonsynonymous SNV	RNF213:NM_001256071:exon29:c.A6551G:p.Q2184R	.	0	1498	23	1	0	25	0.00827541	.	.	.	715797	not_provided|RNF213-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00360495360684	0.0022	0.00159744	0.0024	0.0004	0.0018	0	0.0002	0.0031	0.0066	0.0028	0.0024579	380	154602	rs138595111	0.0038	0.0038	0.0037	0.0038	0.0099	0.0037	0.0036	0.0078	0.0071	0.0007	0.0017	0.0030	0	0.0006	0.0099	0.0042	0.0046	0.0029	0.0025	0.0025	0.0028	0.0023	0.0040	0.0023	0.0022	0.0036	0.0034	0.0007	0	0.0033	0.0032	0	0.0004	0.0170	0.0040	0.0033	0.0023	0.832	0.02869	T	0.895	0.03099	T	.	.	.	.	.	.	0.613810	0.10841	N	0.817583	1	0.08975	N	.	.	.	1.95	0.22474	T	-1.44	0.35399	N	0.043	0.01577	-0.9635	0.38507	T	0.020	0.08546	T	10	0.017392218	0.00371	T	0.003605	0.08247	T	0.030	0.07022	.	.	0.117506650769	0.11410	.	.	0.351483973545	0.36988	0.241480603814	0.02925	T	0.02384	0.18124	T	-0.666409	0.00058	T	-0.728522	0.04395	T	0.00173518910473408	0.00018	T	0.435856	0.11948	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.069	0.03093	B	.;.	.;.	-0.353405	0.02393	0.265	0.4294536971338907	0.03200	0.09017	0.14855	N	AEFDBI	0.052287	0.09317	N	-1.21672145797293	0.04757	0.2153734	-1.20906142747402	0.05764	0.2755305	5.79141037353422E-4	0.07363	0.719381	0.83141	0	0.724815	0.89359	0	0.723133	0.82415	0	0.714379	0.83352	0	.	.	5.57	-0.534	0.11289	-0.528000	0.06280	-1.396000	0.05538	-0.042000	0.17409	0.000000	0.06391	0.000000	0.08366	0.009000	0.08673	0.3959:0.1262:0.3553:0.1226	2.551	0.04459	856	0.34373	.;.	.	.	.	.	.	Likely benign	0	0	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	0.005035	0.000000	0.005435	0.002924	0.000000	0.000000	0.009146	0.000000	0.07895	4494.79	104	chr17	80344886	.	A	G	4494.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.499;DP=1092;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=12.15;ReadPosRankSum=-0.131;SOR=0.68	GT:AD:DP:GQ:PL	0/1:67,68:135:99:1682,0,1737	16	0	3	0
chr17	81528871	81528871	A	G	exonic	FSCN2	.	nonsynonymous SNV	FSCN2:NM_001077182:exon1:c.A340G:p.T114A,FSCN2:NM_012418:exon1:c.A340G:p.T114A	Retinitis pigmentosa 30	0	1516	6	0	0	6	0.00197498	.	.	.	741204	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.012	0.00514806509797	0.0008	0.000199681	0.0016	0.0008	0.0021	0	0.005	0.0029	0	0.0004	0.0005304	82	154602	rs202158770	0.0009	0.0009	0.0009	0.0009	0.0032	0.0009	0.0009	0.0020	0.0017	0.0002	0.0008	0	0	0.0001	0.0032	0.0011	0.0008	0.0003	0.0006	0.0006	0.0006	0.0006	0.0010	0.0005	0.0005	0.0008	0.0008	0.0001	0	0.0006	0	0	9.409e-05	0	0.0010	0.0014	0.0004	0.006	0.61437	D	0.193	0.28210	T	0.0	0.02946	B	0.0	0.01387	B	0.015295	0.28288	N	0.362200	0.851906	0.28484	N	1.1	0.28011	L	1.96	0.22270	T	-2.19	0.49352	N	0.065	0.13055	-1.0587	0.12083	T	0.040	0.17234	T	10	0.012120903	0.00262	T	0.005148	0.13094	T	0.012	0.01476	.	.	0.373897652646	0.36997	0.23596444462120333	0.23511	0.0716247494245	0.08021	0.516877174377	0.41187	T	0.25221	0.62256	T	-0.604322	0.00137	T	-0.686395	0.06600	T	0.0106476187211481	0.00149	T	0.779122	0.41282	T	0.11139031	0.26323	0.09344192	0.22070	0.11139031	0.26323	0.09344192	0.22069	-7.97	0.61071	D	0.12783891521311308	0.13153	0.068	0.02829	B	.;.	.;.	1.866161	0.23708	16.12	0.86445948207584411	0.16541	0.51350	0.28875	D	AEFDBCI	0.101337	0.20356	N	-0.654054616540187	0.17343	0.8915816	-0.682873457787928	0.17389	0.9244013	0.999979095664184	0.50053	0.660377	0.49826	0	0.694456	0.67091	0	0.603688	0.36954	0	0.562822	0.20929	0	.	.	4.32	0.445	0.15808	0.894000	0.27983	3.603000	0.39228	0.686000	0.82685	0.483000	0.26824	1.000000	0.68203	0.304000	0.24594	0.4601:0.0:0.2214:0.3185	3.101	0.05946	.	.	Fascin domain|Fascin domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	1	0	0.001526	0.005208	0.000000	0.002976	0.000000	0.000000	0.006211	0.000000	0.05263	2034.83	41	chr17	81528871	.	A	G	2034.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.098;DP=887;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.11;ReadPosRankSum=-0.022;SOR=0.684	GT:AD:DP:GQ:PL	0/1:52,35:87:99:841,0,1381	17	0	2	0
chr18	9887397	9887397	C	0	exonic	TXNDC2	.	.	.	.	477	317	422	139	167	867	0.524738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	121308.0	599	chr18	9887397	.	C	*	121308.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=2.27;DP=10943;ExcessHet=0.0506;FS=0;InbreedingCoeff=0.3091;MLEAC=16;MLEAF=0.421;MQ=59.34;MQRankSum=1.04;QD=14.78;ReadPosRankSum=0.235;SOR=0.697	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:3,197:467:99:.:.:15020,7472,9481:.	6	3	10	0
chr18	26057676	26057676	G	A	exonic	SS18	.	nonsynonymous SNV	SS18:NM_001007559:exon4:c.C298T:p.R100C,SS18:NM_001308201:exon4:c.C229T:p.R77C,SS18:NM_005637:exon4:c.C298T:p.R100C	Sarcoma, synovial (1)	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.200	0.013112774546	7.7e-05	.	.	.	.	.	.	.	.	.	3.84e-05	1	26028	rs149811250	2.052e-06	2.052e-06	4.084e-06	0	1.799e-06	5.5e-07	1.5e-07	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	1.656e-05	0	1.972e-05	1.97e-05	2.57e-05	1.345e-05	0.0001	5.24e-06	2.45e-06	2.261e-05	9.07e-06	2.414e-05	0	0.0001	0	0	0	0	0	0	0	0.003	0.72154	D	0.055	0.47336	T	0.999	0.77913	D	0.818	0.58969	P	0.000002	0.62929	D	0.107658	1	0.81001	D	1.1	0.28011	L	1.44	0.32722	T	-2.21	0.52289	N	0.683	0.70263	-1.0293	0.20681	T	0.122	0.42314	T	10	0.331862	0.50401	T	0.013113	0.32253	T	0.200	0.48430	.	.	0.0934897674506	0.08844	0.3101445041467752	0.30927	0.865720568616	0.69199	0.450907945633	0.32068	T	0.336766	0.70623	T	0.0281117	0.55472	T	-0.197396	0.54894	T	0.891956269741058	0.54298	D	0.954105	0.82551	D	0.26368293	0.49434	0.21599853	0.46211	0.26368293	0.49434	0.21599853	0.46210	-2.752	0.07955	T	.	.	0.175	0.38300	B	.;.;.;.;.	.;.;.;.;.	5.714926	0.93194	33	0.98036028320958046	0.37751	0.97212	0.73352	D	AEFDBCIJ	0.970195	0.99249	D	0.531763577098098	0.68978	5.292353	0.60079880982415	0.74997	6.233415	1.0	0.98316	0.736574	0.97449	0	0.702456	0.74545	0	0.732669	0.93749	0	0.714379	0.83352	0	.	.	5.32	5.32	0.75377	9.602000	0.97623	11.832000	0.97554	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.784000	0.37066	0.0:0.0:1.0:0.0	19.198	0.93684	954	0.10045	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	871.33	34	chr18	26057676	.	G	A	871.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.449;DP=724;ExcessHet=0;FS=4.029;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.37;ReadPosRankSum=0.7;SOR=1.179	GT:AD:DP:GQ:PL	0/1:55,38:93:99:885,0,1372	18	0	1	0
chr18	31354330	31354330	C	T	exonic	DSG1	.	nonsynonymous SNV	DSG1:NM_001942:exon15:c.C2134T:p.R712C	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, Autosomal recessive;Keratosis palmoplantaris striata I, AD, Autosomal dominant	1	1519	2	0	0	2	0.000657895	.	.	.	715931	not_provided|DSG1-related_disorder	MedGen:C3661900|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.551	0.055254717874	0.0005	0.00119808	0.0017	0.0007	0.0095	0.0040	0.0005	0.0006	0	0.0006	0.0015459	239	154602	rs149191001	0.0011	0.0011	0.0012	0.0010	0.0080	0.0011	0.0011	0.0073	0.0071	0.0003	0.0080	3.826e-05	0.0026	0.0006	0.0005	0.0009	0.0008	0.0007	0.0012	0.0012	0.0011	0.0012	0.0043	0.0010	0.0010	0.0029	0.0024	0.0005	0	0.0031	0	0.0043	0.0012	0	0.0010	0.0019	0.0004	0.0	0.91255	D	0.001	0.83351	D	1.0	0.90584	D	0.998	0.88582	D	0.000004	0.62929	D	0.000000	0.999993	0.58761	D	2.285	0.65182	M	-1.06	0.76819	T	-5.6	0.86608	D	0.594	0.80572	0.193	0.85781	D	0.587	0.85184	D	10	0.011037976	0.00243	T	0.055255	0.66166	D	0.551	0.81427	.	.	0.925294171032	0.92453	0.6892350143534115	0.68863	0.488873001158	0.47673	0.676832437515	0.63816	T	0.214893	0.57661	T	0.0217508	0.54617	T	0.265148	0.86335	D	0.0434598145851397	0.04322	T	0.933007	0.74900	D	0.79619676	0.83664	0.7688245	0.86348	0.8042928	0.84183	0.76486576	0.86111	-7.291	0.56131	T	0.5462089648290672	0.61530	0.355	0.56895	A	.;.	.;.	5.270927	0.88506	29.6	0.9718009208284738	0.32718	0.90315	0.51393	D	AEFBI	0.493909	0.52993	N	0.70649537951855	0.80060	7.210943	0.705178510884434	0.82773	7.850554	0.999718568556344	0.42101	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	6.04	5.1	0.68917	3.349000	0.51931	6.069000	0.53240	0.599000	0.40250	0.998000	0.41325	1.000000	0.68203	1.000000	0.97212	0.1875:0.8125:0.0:0.0	17.227	0.86856	527	0.73864	Cadherin, cytoplasmic domain;.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	1504.33	35	chr18	31354330	.	C	T	1504.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.691;DP=757;ExcessHet=0;FS=1.71;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.89;ReadPosRankSum=-0.072;SOR=0.964	GT:AD:DP:GQ:PL	0/1:45,56:101:99:1518,0,1132	18	0	1	0
chr18	37067196	37067196	T	C	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.T559C:p.C187R,KIAA1328:NM_001353919:exon6:c.T559C:p.C187R,KIAA1328:NM_001353918:exon7:c.T871C:p.C291R,KIAA1328:NM_020776:exon7:c.T883C:p.C295R,KIAA1328:NM_001353920:exon8:c.T31C:p.C11R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.028	0.0248307524252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.369e-06	1.368e-06	1.362e-06	1.376e-06	1.799e-06	2.3e-07	9e-08	3e-07	1.1e-07	0	0	0	0	0	0	1.799e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	0.21467	T	0.317	0.70582	T	0.002	0.54977	B	0.003	0.49647	B	0.066107	0.21833	N	0.492799	0.999991	0.18198	N	1.895	0.50365	L	0.96	0.42888	T	-2.89	0.60665	D	0.217	0.34228	-1.0429	0.16443	T	0.086	0.33550	T	10	0.095427215	0.17043	T	0.024831	0.47815	T	0.028	0.06331	0.277	0.23004	0.151104730317	0.14643	0.12560051005708286	0.12486	0.260958981567	0.28653	0.343422293663	0.16949	T	0.074489	0.34951	T	-0.234135	0.16106	T	-0.574095	0.15076	T	0.15222541987896	0.17279	T	0.674733	0.29555	T	0.25123864	0.48131	0.18567732	0.41694	0.25123864	0.48131	0.18567732	0.41693	-2.248	0.04280	T	.	.	0.146	0.40392	B	.;.;.;.;.	.;.;.;.;.	1.448914	0.18694	13.88	0.56740053966158088	0.05617	0.66923	0.33248	D	AEFGI	0.168829	0.29561	N	-0.727595758614455	0.15249	0.7668366	-0.728904545204197	0.16243	0.8583232	4.57563750617174E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	0.957	0.18736	1.298000	0.33017	0.476000	0.18759	-0.169000	0.11342	0.930000	0.32276	0.856000	0.27440	0.032000	0.13371	0.1242:0.1328:0.13:0.613	2.399	0.04129	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	827.4	33	chr18	37067196	.	T	C	827.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-6.782;DP=2841;ExcessHet=2.0135;FS=140.873;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=0.54;ReadPosRankSum=2.07;SOR=12.018	GT:AD:DP:GQ:PL	0/1:221,50:271:99:296,0,7340	13	0	6	0
chr18	37067197	37067197	G	A	exonic	KIAA1328	.	nonsynonymous SNV	KIAA1328:NM_001322327:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353919:exon6:c.G560A:p.C187Y,KIAA1328:NM_001353918:exon7:c.G872A:p.C291Y,KIAA1328:NM_020776:exon7:c.G884A:p.C295Y,KIAA1328:NM_001353920:exon8:c.G32A:p.C11Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.114	0.00495282325438	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.841e-07	6.84e-07	1.361e-06	0	8.994e-07	0	0	.	.	0	0	0	0	0	0	8.994e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.981	0.02004	T	1.0	0.03324	T	0.001	0.12183	B	0.002	0.10090	B	0.066107	0.21833	N	0.492799	1	0.08975	N	0.995	0.25082	L	1.0	0.41392	T	-2.1	0.47852	N	0.081	0.14054	-1.0339	0.19205	T	0.038	0.16376	T	10	0.04781583	0.04150	T	0.004953	0.12473	T	0.114	0.32008	0.24	0.17218	0.0884992946249	0.08302	0.12486170782916084	0.12412	0.0693334402013	0.07761	0.349928975105	0.17912	T	0.024333	0.18409	T	-0.281787	0.10479	T	-0.642544	0.09485	T	0.114724479615688	0.13906	T	0.662434	0.28129	T	0.03804784	0.04996	0.067671165	0.14031	0.03804784	0.04996	0.067671165	0.14031	-3.62	0.18147	T	.	.	0.075	0.13174	B	.;.;.;.;.	.;.;.;.;.	0.712451	0.10815	7.495	0.20846672331132926	0.00768	0.17205	0.19735	N	AEFGI	0.089171	0.18075	N	-0.990119155275313	0.08813	0.4147193	-0.924159477584458	0.11525	0.5876435	4.19662457214258E-5	0.03989	0.638212	0.43195	0	0.588015	0.36545	0	0.658983	0.55881	0	0.668105	0.65232	0	.	.	6.17	1.01	0.19044	0.347000	0.19760	1.733000	0.28342	0.676000	0.76740	0.648000	0.28154	0.820000	0.27118	0.027000	0.12703	0.2504:0.2192:0.3296:0.2008	0.508	0.00551	738	0.53389	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	417.83	33	chr18	37067197	.	G	A	417.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-6.579;DP=1883;ExcessHet=0.119;FS=160.238;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=1.97;SOR=10.341	GT:AD:DP:GQ:PL	0/1:221,28:267:99:112,0,7450	17	0	2	0
chr18	48252446	48252446	C	G	exonic	C18orf12	.	nonsynonymous SNV	C18orf12:NM_001350280:exon1:c.C146G:p.T49S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00202876021771	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	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	132.65	173	chr18	48252446	.	C	G	132.65	.	AC=2;AF=0.1;AN=20;BaseQRankSum=-5.893;DP=3141;ExcessHet=0.119;FS=193.121;InbreedingCoeff=-0.208;MLEAC=3;MLEAF=0.15;MQ=60;MQRankSum=0;QD=0.37;ReadPosRankSum=2.4;SOR=9.912	GT:AD:DP:GQ:PL	0/1:133,41:180:15:15,0,3056	8	0	2	9
chr18	65824683	65824683	C	G	exonic	CDH7	.	nonsynonymous SNV	CDH7:NM_001317214:exon6:c.C833G:p.A278G,CDH7:NM_001362438:exon6:c.C833G:p.A278G,CDH7:NM_004361:exon6:c.C833G:p.A278G,CDH7:NM_033646:exon6:c.C833G:p.A278G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.00490096248541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.002	0.06944	B	0.072800	0.21387	N	0.451193	0.982979	0.39957	D	-3.075	0.00011	N	1.84	0.24656	T	3.87	0.00076	N	0.227	0.25499	-0.9038	0.47583	T	0.008	0.02884	T	10	0.04493016	0.03505	T	0.004901	0.12318	T	0.155	0.40530	0.546	0.66015	0.15499578495	0.15088	0.21276109158363124	0.21192	0.352591177131	0.37089	0.615600824356	0.55106	T	0.044351	0.26789	T	-0.291422	0.09494	T	-0.656384	0.08512	T	0.0723997502850542	0.08984	T	0.824517	0.48627	T	0.09681208	0.22810	0.12931228	0.31094	0.09681208	0.22809	0.12931228	0.31094	3.359	0.00015	T	.	.	0.078	0.06663	B	.;.;.	.;.;.	2.090507	0.26594	17.17	0.15872056406126045	0.00404	0.74711	0.36555	D	AEFDGBI	0.136260	0.25686	N	-0.923050984542219	0.10304	0.4917672	-0.581236897984816	0.19982	1.074571	0.870688873629593	0.25410	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	4.65	3.76	0.42368	1.558000	0.35917	3.329000	0.37611	0.589000	0.31548	0.946000	0.32893	0.998000	0.33993	0.969000	0.54022	0.0:0.7002:0.2998:0.0	13.494	0.60866	994	0.00715	Cadherin-like;Cadherin-like;Cadherin-like	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4737	3265.29	67	chr18	65824683	.	C	G	3265.29	.	AC=18;AF=0.474;AN=38;BaseQRankSum=0.376;DP=1741;ExcessHet=38.2876;FS=194.625;InbreedingCoeff=-0.8995;MLEAC=18;MLEAF=0.474;MQ=60;MQRankSum=0;QD=2.24;ReadPosRankSum=1.26;SOR=12.236	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:63,35:98:99:0|1:65824683_C_G:372,0,1290:65824683	1	0	18	0
chr18	79717562	79717562	A	C	exonic	CTDP1	.	nonsynonymous SNV	CTDP1:NM_001202504:exon9:c.A1739C:p.E580A,CTDP1:NM_001318511:exon9:c.A2096C:p.E699A,CTDP1:NM_004715:exon9:c.A2096C:p.E699A,CTDP1:NM_048368:exon9:c.A2096C:p.E699A	Congenital cataracts, facial dysmorphism, and neuropathy, Autosomal recessive	0	1521	1	0	0	1	0.000328623	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.151	0.0743429357747	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1378586510	6.843e-07	6.84e-07	0	1.375e-06	0.0002	0	0	.	.	0	0	0	0	0	0.0002	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.23	0.40573	T	0.271	0.22291	T	0.003	0.19866	B	0.025	0.20508	B	0.000792	0.41772	N	0.270709	0.540669	0.32051	D	0.53	0.13656	N	-1.72	0.83241	D	-2.57	0.62008	D	0.275	0.31590	-0.7357	0.58673	T	0.314	0.68389	T	10	0.15624717	0.29431	T	0.074343	0.72017	D	0.151	0.39764	0.331	0.31681	0.442295363799	0.43851	0.5940864892022834	0.59338	0.146246402447	0.16512	0.527313768864	0.42656	T	0.157366	0.49994	T	-0.0433272	0.45452	T	-0.300013	0.44723	T	0.115439814180425	0.13979	T	0.761624	0.40374	T	0.069762595	0.15311	0.052957613	0.08829	0.069762595	0.15310	0.052957613	0.08828	-8.064	0.61506	D	.	.	0.083	0.09627	B	.;.;.;.	.;.;.;.	2.113709	0.26901	17.28	0.75374640684252403	0.11050	0.76734	0.37658	D	AEFDBCI	0.208664	0.33472	N	-0.983673549242405	0.08952	0.4217451	-0.931171918545028	0.11361	0.5782711	0.895972737172275	0.25967	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	5.09	-0.292	0.12204	3.209000	0.50824	6.246000	0.55309	-0.776000	0.03386	1.000000	0.71638	1.000000	0.68203	0.214000	0.22296	0.4908:0.3728:0.1364:0.0	6.610	0.21940	.	.	BRCT domain|BRCT domain|BRCT domain;.;BRCT domain|BRCT domain|BRCT domain;BRCT domain|BRCT domain|BRCT domain	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	610.33	37	chr18	79717562	.	A	C	610.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.477;DP=659;ExcessHet=0;FS=3.062;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.87;ReadPosRankSum=0.423;SOR=1.353	GT:AD:DP:GQ:PL	0/1:23,21:44:99:624,0,655	18	0	1	0
chr19	374338	374338	A	C	exonic	THEG	.	nonsynonymous SNV	THEG:NM_016585:exon2:c.T392G:p.L131R,THEG:NM_199202:exon2:c.T392G:p.L131R	.	417	1087	17	1	0	19	0.00866393	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0196772225736	7.7e-05	0.000798722	0.0007	0	0.0003	0	0	0.0003	0.0023	0.0033	0.0006274	97	154602	rs150403020	0.0004	0.0004	0.0003	0.0006	0.0042	0.0004	0.0004	0.0030	0.0029	2.987e-05	0.0004	0.0002	0	1.875e-05	0.0042	0.0002	0.0007	0.0033	0.0003	0.0003	0.0003	0.0003	0.0021	0.0002	0.0002	0.0011	0.0009	4.81e-05	0	0.0003	0	0.0002	0	0	0.0004	0.0009	0.0021	0.0	0.91255	D	0.0	0.92824	D	0.999	0.77913	D	0.996	0.92359	D	0.124233	0.18888	N	0.394822	0.724	0.29896	N	1.1	0.28011	L	0.61	0.53516	T	-4.4	0.77308	D	0.733	0.82660	-0.6667	0.61977	T	0.244	0.61225	T	10	0.06504443	0.08717	T	0.019677	0.42104	T	0.296	0.61616	.	.	0.344017737713	0.34012	0.37290604879744027	0.37204	0.381255657936	0.39490	0.431989133358	0.29480	T	0.684028	0.90750	D	-0.121771	0.32834	T	0.048317	0.73472	D	0.120021722515531	0.14432	T	0.419058	0.27634	T	0.61270934	0.73373	0.59631556	0.76561	0.61270934	0.73374	0.59631556	0.76562	-12.409	0.86786	D	.	.	0.391	0.76335	A	.;.;.	.;.;.	3.950987	0.57877	23.9	0.99626322756997099	0.75776	0.51441	0.28896	D	AEFDBHCI	0.061734	0.11823	N	0.186044295172361	0.50529	3.242036	-0.00821311853346807	0.39343	2.331232	0.602422540010629	0.21737	0.554377	0.28877	0	0.588066	0.40923	0	0.578056	0.29568	0	0.562822	0.20929	0	.	.	2.78	2.78	0.31702	0.953000	0.28759	10.568000	0.83440	0.731000	0.85647	0.219000	0.24524	1.000000	0.68203	0.175000	0.21139	1.0:0.0:0.0:0.0	7.387	0.26064	994	0.00715	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.000000	0.005435	0.000000	0.000000	0.000000	0.003049	0.007576	0.05263	2337.83	35	chr19	374338	.	A	C	2337.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.01;DP=825;ExcessHet=0.119;FS=4.279;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.37;ReadPosRankSum=1.13;SOR=1.03	GT:AD:DP:GQ:PL	0/1:33,57:90:99:1351,0,803	17	0	2	0
chr19	501876	501876	G	A	exonic	MADCAM1	.	nonsynonymous SNV	MADCAM1:NM_130760:exon4:c.G875A:p.R292H	.	438	1062	19	3	0	25	0.0116333	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	.	0.0004	0.00239617	0.0049	0	0.0014	0	0	0.0010	0	0.0135	0.0011319	175	154602	rs200332335	0.0010	0.0010	0.0007	0.0013	0.0087	0.0010	0.0009	0.0081	0.0079	0.0004	0.0004	0	2.797e-05	4.213e-05	0.0073	0.0005	0.0014	0.0087	0.0006	0.0006	0.0006	0.0007	0.0100	0.0005	0.0005	0.0078	0.0070	9.654e-05	0	0.0006	0	0	0	0.0034	0.0005	0.0010	0.0100	0.103	0.30097	T	0.042	0.53426	D	0.002	0.09854	B	0.001	0.04355	B	0.114668	0.02671	N	2.253530	1	0.08975	N	0.695	0.17993	N	2.61	0.13095	T	-0.63	0.18459	N	0.056	0.05037	-0.9974	0.30646	T	0.021	0.08870	T	10	0.0036066473	0.00065	T	.	.	.	0.014	0.01968	.	.	0.0806252709748	0.07271	0.14869288232791517	0.14791	0.562103597048	0.52702	0.186702221632	0.00172	T	0.019228	0.31079	T	-0.676698	0.00050	T	-0.739256	0.03922	T	0.0151887775389658	0.00332	T	0.824517	0.48627	T	0.024933673	0.01376	0.018512215	0.00058	0.024933673	0.01376	0.018512215	0.00058	-3.953	0.23098	T	.	.	0.093	0.13969	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.187974	0.05743	2.189	0.8458847076980146	0.15380	0.00274	0.01486	N	AEFDBI	0.040199	0.05944	N	-1.19802033786692	0.05030	0.2283678	-1.30666015791695	0.04344	0.2046673	0.983301546453494	0.30538	0.646311	0.45356	0	0.610034	0.51514	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	3.3	-3.97	0.03821	-1.871000	0.01732	-14.423000	0.00404	0.650000	0.52971	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.2232:0.0:0.2733:0.5035	3.463	0.07106	988	0.01987	.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.008709	0.000000	0.009615	0.005988	0.000000	0.008772	0.009434	0.015267	0.05263	1782.83	40	chr19	501876	.	G	A	1782.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.49;DP=815;ExcessHet=0.119;FS=1.5;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.98;ReadPosRankSum=1.92;SOR=0.885	GT:AD:DP:GQ:PL	0/1:30,25:55:99:528,0,630	17	0	2	0
chr19	617466	617466	A	G	exonic	POLRMT	.	nonsynonymous SNV	POLRMT:NM_005035:exon20:c.T3596C:p.L1199S	.	427	1077	18	0	0	18	0.00828729	.	.	.	728450	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.056	.	0.0047	0.00319489	0.0061	0.0018	0.0059	0	0.0022	0.0090	0.0049	0.0028	0.0057826	894	154602	rs151287767	0.0077	0.0077	0.0078	0.0075	0.0130	0.0075	0.0075	0.0105	0.0096	0.0014	0.0068	0.0052	0	0.0032	0.0130	0.0087	0.0079	0.0033	0.0058	0.0059	0.0061	0.0055	0.0097	0.0055	0.0053	0.0085	0.0080	0.0014	0	0.0097	0.0049	0	0.0033	0.0136	0.0085	0.0109	0.0031	.	.	.	0.445	0.13140	T	0.003	0.11197	B	0.026	0.20792	B	0.000046	0.00387	N	9.009160	1	0.08975	N	0.695	0.17993	N	.	.	.	.	.	.	0.149	0.15187	-1.0240	0.22410	T	0.042	0.17952	T	10	0.0049084723	0.00105	T	.	.	.	.	.	.	.	0.163833314356	0.15978	0.4567661953493399	0.45594	0.0288100514737	0.02965	0.396012067795	0.24514	T	0.007223	0.06635	T	-0.60466	0.00136	T	-0.63408	0.10107	T	0.000821622846927263	0.00008	T	0.19908	0.02235	T	0.13238767	0.30827	0.1380573	0.32981	0.13238767	0.30827	0.1380573	0.32980	-2.29	0.04501	T	.	.	0.084	0.09868	B	.	.	0.119766	0.05175	1.692	0.31913970483794329	0.01823	0.00796	0.03248	N	AEFDGBHCI	0.015781	0.00318	N	-1.89541605862479	0.00351	0.01507178	-1.96734416740588	0.00358	0.01582588	0.898859477897704	0.26036	0.660377	0.49826	0	0.694456	0.67091	0	0.645312	0.48771	0	0.491896	0.07777	0	.	.	2.64	-5.27	0.02551	0.219000	0.17426	-0.050000	0.12557	-0.986000	0.01871	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.6335:0.0:0.2206:0.146	6.106	0.19293	994	0.00715	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	0.008081	0.005102	0.010870	0.014620	0.000000	0.000000	0.003067	0.003788	0.05263	1026.83	44	chr19	617466	.	A	G	1026.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.444;DP=894;ExcessHet=0.119;FS=0.792;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.04;ReadPosRankSum=-0.009;SOR=0.541	GT:AD:DP:GQ:PL	0/1:30,22:52:99:469,0,787	17	0	2	0
chr19	2078473	2078473	C	T	exonic	MOB3A	.	nonsynonymous SNV	MOB3A:NM_130807:exon3:c.G88A:p.E30K	.	426	1094	2	0	0	2	0.000913242	.	.	.	3554262	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.462	0.00771005563525	.	0.000199681	5.811e-05	0	0	0.0001	0	1.509e-05	0	0.0003	5.17e-05	8	154602	rs45509008	2.536e-05	2.531e-05	9.54e-06	4.136e-05	0.0003	1.871e-05	1.634e-05	0.0002	0.0002	0	2.24e-05	0	2.527e-05	0	0	5.406e-06	4.979e-05	0.0003	1.313e-05	1.312e-05	1.285e-05	1.342e-05	2.405e-05	2.18e-06	8.2e-07	.	.	2.405e-05	0	0	0	0	0	0	1.47e-05	0	0	0.075	0.34444	T	0.131	0.37730	T	0.219	0.30243	B	0.024	0.20255	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.265	0.31966	L	.	.	.	-2.03	0.46673	N	0.881	0.88137	-0.7466	0.58113	T	0.207	0.56526	T	9	0.3395902	0.51043	T	0.00771	0.20457	T	0.462	0.75889	.	.	0.343560092441	0.33966	0.6615578791207789	0.66092	0.34292255472	0.36221	0.796504974365	0.81431	T	0.182617	0.53469	T	0.14917	0.69190	D	0.255931	0.85899	D	0.140993602548576	0.16361	T	0.988701	0.96153	D	0.28251502	0.51288	0.24613102	0.50116	0.28251502	0.51288	0.24613102	0.50115	-12.181	0.85722	D	.	.	0.814	0.78275	P	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.705413	0.75534	26.3	0.99793454807235804	0.87928	0.96174	0.67873	D	AEFBHCI	0.891211	0.82698	D	-0.00275961187068221	0.41732	2.501379	0.0510665823784125	0.42122	2.542421	0.999999999999988	0.74766	0.706548	0.73137	0	0.685571	0.66316	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	4.26	4.26	0.49832	7.707000	0.83595	7.348000	0.58281	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	15.430	0.74813	964	0.07719	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1582.33	115	chr19	2078473	.	C	T	1582.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.72;DP=1430;ExcessHet=0;FS=1.446;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.08;ReadPosRankSum=0.893;SOR=0.604	GT:AD:DP:GQ:PL	0/1:58,63:121:99:1596,0,1323	18	0	1	0
chr19	3626603	3626603	C	G	exonic	CACTIN	.	nonsynonymous SNV	CACTIN:NM_001080543:exon1:c.G160C:p.E54Q,CACTIN:NM_021231:exon1:c.G160C:p.E54Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00818847364444	.	.	5.794e-05	0	0	0	0	0	0	0.0003	6.5e-06	1	154602	rs759881630	2.268e-06	2.736e-06	1.496e-06	3.056e-06	3.731e-05	6e-07	1.7e-07	.	.	3.731e-05	0	0	0	0	0	0	1.852e-05	1.399e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.34444	T	0.462	0.12526	T	0.079	0.24468	B	0.019	0.18783	B	.	.	.	.	1	0.81001	D	1.1	0.28011	L	.	.	.	-0.62	0.18248	N	0.22	0.24634	-1.0646	0.10642	T	0.059	0.24908	T	8	0.065612614	0.08878	T	0.008188	0.21700	T	0.032	0.07718	0.235	0.16457	0.165150595986	0.16160	0.28331686271708073	0.28244	0.61882277947	0.56262	0.712203860283	0.68913	T	0.014245	0.12164	T	-0.259699	0.12934	T	-0.441688	0.28620	T	0.14051289512154	0.16319	T	0.457454	0.13149	T	0.14603762	0.33449	0.08888672	0.20752	0.14603762	0.33449	0.08888672	0.20751	-5.302	0.39963	T	.	.	0.089	0.12084	B	.;.;.	.;.;.	2.776884	0.36468	20.3	0.97161893741784477	0.32634	0.63158	0.32002	D	AEFDGBHCI	0.163828	0.29015	N	-0.360570021452801	0.26885	1.470822	-0.189520842612113	0.31920	1.811058	1.0	0.98316	0.733237	0.96898	0	0.52208	0.09955	0	0.600757	0.32118	0	0.56214	0.19341	0	.	.	4.47	4.47	0.53770	0.553000	0.23098	2.436000	0.32752	0.524000	0.24156	0.145000	0.23581	1.000000	0.68203	0.075000	0.16954	0.0:1.0:0.0:0.0	12.991	0.58019	958	0.09170	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	524.33	35	chr19	3626603	.	C	G	524.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.02;DP=564;ExcessHet=0;FS=6.129;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.16;ReadPosRankSum=0.872;SOR=1.609	GT:AD:DP:GQ:PL	0/1:27,20:47:99:538,0,669	18	0	1	0
chr19	3637462	3637462	C	T	exonic	PIP5K1C	.	nonsynonymous SNV	PIP5K1C:NM_001300849:exon17:c.G2072A:p.R691Q	Lethal congenital contractural syndrome 3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0221483762562	.	.	.	.	.	.	.	.	.	.	.	.	.	rs138081265	1.952e-05	1.847e-05	2.14e-05	1.758e-05	0.0002	1.337e-05	1.146e-05	1.251e-05	1.062e-05	3.166e-05	0	3.973e-05	2.799e-05	0	0.0002	1.947e-05	0	2.524e-05	1.314e-05	1.313e-05	1.285e-05	1.346e-05	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	.	.	.	.	.	.	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.64	0.27822	T	.	.	.	0.058	0.02964	.	.	.	.	.	.	.	0.055750787	0.06142	T	0.022148	0.45008	T	.	.	.	.	0.0675242888579	0.06100	0.23577947208629216	0.23492	.	.	.	.	.	.	.	.	-0.198653	0.20999	T	-0.497947	0.22560	T	.	.	.	0.385361	0.09439	T	.	.	.	.	.	.	.	.	-3.992	0.23683	T	.	.	0.089	0.12276	B	.	.	0.081044	0.04871	1.460	0.85029035284495791	0.15642	0.01517	0.05008	N	AEFDBI	0.045035	0.07317	N	.	.	.	.	.	.	0.00112838207178433	0.08250	0.651	0.46895	0	0.708844	0.79440	0	0.645312	0.48771	0	0.714379	0.83352	0	.	.	2.28	-2.93	0.05261	-0.187000	0.09652	-0.466000	0.09008	-1.078000	0.01575	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.3625:0.4053:0.0:0.2322	3.018	0.05698	964	0.07719	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2253.33	41	chr19	3637462	.	C	T	2253.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.221;DP=943;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.57;ReadPosRankSum=0.563;SOR=0.693	GT:AD:DP:GQ:PL	0/1:68,98:166:99:2267,0,1381	18	0	1	0
chr19	4511563	4511563	C	0	exonic	PLIN4	.	.	.	.	463	531	326	1	201	529	0.235971	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	12451.6	756	chr19	4511563	.	C	*	12451.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=4.22;DP=10066;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=59.45;MQRankSum=-5.274;QD=4.79;ReadPosRankSum=-5.752;SOR=0.724	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	7	0	1	11
chr19	4511566	4511566	A	0	exonic	PLIN4	.	.	.	.	415	583	322	1	201	525	0.21745	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	11996.6	756	chr19	4511566	.	A	*	11996.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-1.071;DP=10076;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=59.43;MQRankSum=-4.736;QD=4.55;ReadPosRankSum=-5.777;SOR=0.728	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	7	0	1	11
chr19	4511568	4511568	C	0	exonic	PLIN4	.	.	.	.	436	567	317	1	201	520	0.219546	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	11170.6	756	chr19	4511568	.	C	*	11170.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=-0.443;DP=10074;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=59.39;MQRankSum=-5.042;QD=4.24;ReadPosRankSum=-5.956;SOR=0.737	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	7	0	1	11
chr19	4511569	4511569	A	0	exonic	PLIN4	.	.	.	.	438	565	317	1	201	520	0.220152	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	10747.6	756	chr19	4511569	.	A	*	10747.6	.	AC=1;AF=0.063;AN=16;BaseQRankSum=5.82;DP=10081;ExcessHet=1.8123;FS=0.637;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=59.33;MQRankSum=-4.978;QD=4.07;ReadPosRankSum=-5.618;SOR=0.738	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	7	0	1	11
chr19	4511586	4511586	A	0	exonic	PLIN4	.	.	.	.	414	637	269	1	201	472	0.175405	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	6433.57	756	chr19	4511586	.	A	*	6433.57	.	AC=1;AF=0.063;AN=16;BaseQRankSum=5.23;DP=10084;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=58.81;MQRankSum=-2.93;QD=2.43;ReadPosRankSum=-10.42;SOR=0.753	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	7	0	1	11
chr19	4511587	4511587	C	0	exonic	PLIN4	.	.	.	.	408	646	266	1	201	469	0.171795	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0625	6175.56	756	chr19	4511587	.	C	*	6175.56	.	AC=1;AF=0.063;AN=16;BaseQRankSum=5.78;DP=10080;ExcessHet=1.8123;FS=0;InbreedingCoeff=0.1264;MLEAC=2;MLEAF=0.125;MQ=58.78;MQRankSum=-2.856;QD=2.33;ReadPosRankSum=-9.853;SOR=0.754	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	7	0	1	11
chr19	4511607	4511607	T	0	exonic	PLIN4	.	.	.	.	411	783	127	0	201	328	0.0750148	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	1174.72	756	chr19	4511607	.	T	*	1174.72	.	AC=1;AF=0.056;AN=18;BaseQRankSum=8.56;DP=10214;ExcessHet=0.8432;FS=1.557;InbreedingCoeff=0.2595;MLEAC=2;MLEAF=0.111;MQ=57.62;MQRankSum=-2.674;QD=0.61;ReadPosRankSum=-8.936;SOR=0.679	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	8	0	1	10
chr19	4511608	4511608	G	0	exonic	PLIN4	.	.	.	.	412	785	124	0	201	325	0.0731995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	964.72	756	chr19	4511608	.	G	*	964.72	.	AC=1;AF=0.056;AN=18;BaseQRankSum=4.21;DP=10209;ExcessHet=0.8432;FS=1.546;InbreedingCoeff=0.2595;MLEAC=2;MLEAF=0.111;MQ=57.58;MQRankSum=-2.887;QD=0.51;ReadPosRankSum=-9.111;SOR=0.657	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	8	0	1	10
chr19	4511610	4511610	C	0	exonic	PLIN4	.	.	.	.	1	116	35	0	74	109	0.131086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05556	646.72	756	chr19	4511610	.	C	*	646.72	.	AC=1;AF=0.056;AN=18;BaseQRankSum=7.68;DP=10200;ExcessHet=0.8432;FS=1.592;InbreedingCoeff=0.2595;MLEAC=2;MLEAF=0.111;MQ=57.47;MQRankSum=-3.369;QD=0.34;ReadPosRankSum=-9.001;SOR=0.663	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:761,216:977:99:.:.:3568,0,30802:.	8	0	1	10
chr19	4511635	4511635	C	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02941	185020.0	381	chr19	4511635	.	C	*	185020.0	.	AC=1;AF=0.029;AN=34;BaseQRankSum=1.1;DP=11491;ExcessHet=0.0128;FS=2.088;InbreedingCoeff=0.4722;MLEAC=1;MLEAF=0.029;MQ=58.28;MQRankSum=-7.087;QD=28;ReadPosRankSum=0.845;SOR=0.747	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:0,204:656:99:.:.:18760,13995,18812:.	16	0	1	2
chr19	4511713	4511713	T	0	exonic	PLIN4	.	.	.	.	34	3	109	74	6	263	0.977186	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	130572.0	467	chr19	4511713	.	T	*	130572.0	.	AC=1;AF=0.031;AN=32;BaseQRankSum=1.76;DP=8558;ExcessHet=0.2174;FS=3.604;InbreedingCoeff=0.2755;MLEAC=1;MLEAF=0.031;MQ=57.38;MQRankSum=-1.524;QD=30.2;ReadPosRankSum=-1.865;SOR=1.088	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,200:569:99:0|1:4511713_T_*:21098,15235,15361:4511713	15	0	1	3
chr19	4511718	4511718	T	0	exonic	PLIN4	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.03125	127794.0	467	chr19	4511718	.	T	*	127794.0	.	AC=1;AF=0.031;AN=32;BaseQRankSum=0.488;DP=8467;ExcessHet=0.4971;FS=3.49;InbreedingCoeff=0.1857;MLEAC=1;MLEAF=0.031;MQ=57.3;MQRankSum=-3.549;QD=30.15;ReadPosRankSum=0.931;SOR=1.047	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:0,200:573:99:0|1:4511713_T_*:21258,15360,15220:4511713	15	0	1	3
chr19	5866928	5866928	G	-	exonic	FUT5	.	frameshift deletion	FUT5:NM_002034:exon2:c.798delC:p.D267Tfs*64	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.692e-05	0	8.697e-05	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs765697026	2.053e-06	2.052e-06	2.723e-06	1.375e-06	2.237e-05	5.5e-07	1.5e-07	.	.	0	2.237e-05	0	0	0	0	8.994e-07	1.656e-05	0	1.979e-05	1.969e-05	3.869e-05	0	0.0002	5.26e-06	2.46e-06	5.298e-05	2.838e-05	0	0	0.0002	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	2760.29	34	chr19	5866927	.	CG	C	2760.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.34;DP=1382;ExcessHet=0;FS=1.782;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=43.89;MQRankSum=-3.659;QD=13.08;ReadPosRankSum=-1.338;SOR=0.85	GT:AD:DP:GQ:PL	0/1:112,99:211:99:2774,0,3118	18	0	1	0
chr19	5914468	5914468	C	T	exonic	CAPS	.	nonsynonymous SNV	CAPS:NM_004058:exon2:c.C62T:p.S21L,CAPS:NM_080590:exon2:c.C62T:p.S21L	.	.	.	.	.	.	.	.	.	.	.	2333737	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.041	0.00630102347933	.	.	3.359e-05	0	8.664e-05	0	0	3.07e-05	0	6.186e-05	2.59e-05	4	154602	rs781604890	9.453e-05	9.44e-05	9.675e-05	9.228e-05	0.0001	8.145e-05	7.661e-05	9.76e-05	9.166e-05	5.978e-05	0.0001	0	0	0	0	0.0001	4.972e-05	1.16e-05	8.541e-05	8.536e-05	8.992e-05	8.068e-05	0.0001	4.956e-05	3.962e-05	7.908e-05	5.994e-05	2.412e-05	0	6.543e-05	0	0	9.409e-05	0	0.0001	0	0	.	.	.	0.221	0.38742	T	.	.	.	.	.	.	0.010523	0.29887	N	0.274206	1	0.08975	N	.	.	.	0.86	0.54911	T	.	.	.	0.275	0.34981	-1.0228	0.22802	T	0.110	0.39675	T	10	0.11395633	0.21425	T	0.006301	0.16551	T	0.041	0.10877	.	.	0.576407682716	0.57309	.	.	.	.	0.391568481922	0.23890	T	0.066513	0.32965	T	-0.320373	0.06866	T	-0.472268	0.25272	T	0.582565903663635	0.35717	D	0.823018	0.50110	T	0.05943416	0.12078	0.076257	0.16872	0.05943416	0.12078	0.076257	0.16871	-5.213	0.39074	T	.	.	0.215	0.44397	B	.;.;.	.;.;.	2.399310	0.30823	18.55	0.99353161693949132	0.60697	0.17536	0.19879	N	AEFDBCI	0.104741	0.20949	N	-0.591544871096551	0.19200	1.003019	-0.570358238057712	0.20267	1.091168	0.999995960244611	0.74766	0.536635	0.22144	0	0.577304	0.33150	0	0.489635	0.07774	0	0.664235	0.64389	0	.	.	5.35	0.484	0.16035	2.605000	0.45947	-0.563000	0.08467	0.599000	0.40250	0.308000	0.25396	0.000000	0.08366	0.291000	0.24285	0.0:0.5761:0.1495:0.2743	5.235	0.14762	867	0.32089	EF-hand domain;.;EF-hand 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	.	.	.	.	.	.	.	.	0.02632	2385.33	33	chr19	5914468	.	C	T	2385.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.32;DP=834;ExcessHet=0;FS=1.07;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.52;ReadPosRankSum=-0.232;SOR=0.611	GT:AD:DP:GQ:PL	0/1:108,99:207:99:2399,0,2455	18	0	1	0
chr19	7871678	7871678	G	C	exonic	PRR36	.	nonsynonymous SNV	PRR36:NM_001190467:exon5:c.C1566G:p.D522E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.3125	750.05	37	chr19	7871678	.	G	C	750.05	.	AC=10;AF=0.313;AN=32;BaseQRankSum=-3.804;DP=1749;ExcessHet=6.9875;FS=186.672;InbreedingCoeff=-0.429;MLEAC=11;MLEAF=0.344;MQ=60;MQRankSum=0;QD=0.77;ReadPosRankSum=1.13;SOR=10.928	GT:AD:DP:GQ:PL	0/1:66,22:88:99:192,0,1475	6	0	10	3
chr19	8445092	8445092	G	C	exonic	HNRNPM	.	nonsynonymous SNV	HNRNPM:NM_005968:exon1:c.G94C:p.G32R,HNRNPM:NM_031203:exon1:c.G94C:p.G32R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.135	0.155927836095	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.84e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.206	0.62352	T	0.998	0.73220	D	0.945	0.68163	D	0.000031	0.55875	D	0.000000	0.99811	0.44524	D	0.895	0.22405	L	2.7	0.20122	T	-0.18	0.09796	N	0.424	0.48872	-1.1186	0.02421	T	0.051	0.21767	T	10	0.261638	0.43625	T	0.155928	0.83678	D	0.135	0.36572	0.294	0.25720	0.422872527889	0.41901	0.5286889482187896	0.52792	0.671510168274	0.59462	0.723069250584	0.70494	T	0.094317	0.39391	T	-0.103108	0.35909	T	-0.385884	0.35032	T	0.902289211750031	0.55521	D	0.89491	0.65538	D	0.084774874	0.19637	0.21407256	0.45944	0.084774874	0.19636	0.21407256	0.45943	-7.807	0.61343	D	.	.	0.158	0.57224	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	4.142343	0.62066	24.4	0.99222613971225182	0.55963	0.88193	0.48012	D	ALL	0.402297	0.47644	N	0.348553319629901	0.58663	4.039971	0.371567623110632	0.59819	4.162974	0.999999999999599	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	5.07	4.04	0.46262	1.564000	0.35983	.	.	-0.193000	0.09282	1.000000	0.71638	1.000000	0.68203	0.819000	0.38590	0.1042:0.0:0.8958:0.0	8.476	0.32175	779	0.47767	.;.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1135.33	34	chr19	8445092	.	G	C	1135.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.279;DP=732;ExcessHet=0;FS=2.75;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.48;ReadPosRankSum=0.479;SOR=0.462	GT:AD:DP:GQ:PL	0/1:38,53:91:99:1149,0,751	18	0	1	0
chr19	8871627	8871627	C	T	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon70:c.G41972A:p.R13991Q	.	421	1086	15	0	0	15	0.00685871	.	.	.	3191483	MUC16-related_disorder	.	no_assertion_criteria_provided	Benign	.	.	.	.	.	.	.	.	0.054	.	0.0041	0.00559105	0.0027	0.0127	0.0025	0	0	0.0007	0.0047	0.0092	0.0024385	377	154602	rs114920126	0.0011	0.0012	0.0010	0.0013	0.0118	0.0011	0.0011	0.0108	0.0104	0.0118	0.0023	0.0003	0	1.9e-05	0.0066	0.0004	0.0020	0.0062	0.0042	0.0042	0.0042	0.0042	0.0124	0.0039	0.0038	0.0115	0.0111	0.0124	0	0.0027	0.0009	0.0002	0	0.0170	0.0006	0.0028	0.0050	0.253	0.16958	T	0.295	0.20680	T	.	.	.	.	.	.	0.097604	0.02516	N	2.322730	1	0.08975	N	.	.	.	1.42	0.33189	T	-1.15	0.29525	N	0.095	0.07535	-0.9599	0.39199	T	0.099	0.36957	T	9	0.0040629804	0.00079	T	.	.	.	0.054	0.15330	.	.	0.0846915920261	0.08053	0.3408060841972615	0.33993	.	.	0.196139812469	0.00353	T	.	.	.	-0.657159	0.00065	T	-0.705709	0.05519	T	0.0126676945277565	0.00212	T	0.319768	0.06432	T	.	.	.	.	.	.	.	.	-5.141	0.38336	T	.	.	0.066	0.02200	B	.	.	0.363628	0.07360	3.982	0.9350958345138678	0.23321	0.01338	0.04604	N	AEFBI	0.036982	0.05014	N	-1.17523555218169	0.05376	0.2449383	-1.33753350985914	0.03954	0.1855621	1.27795500861326E-6	0.01202	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.89	-0.826	0.10260	-0.281000	0.08489	.	.	-1.012000	0.01762	0.000000	0.06391	0.000000	0.08366	0.003000	0.05239	0.0:0.5815:0.0:0.4185	8.353	0.31475	958	0.09170	SEA domain|SEA 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	1	0	0.009063	0.015152	0.014946	0.002924	0.050000	0.008621	0.003049	0.000000	0.02632	344.33	37	chr19	8871627	.	C	T	344.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.712;DP=567;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=-0.164;SOR=0.437	GT:AD:DP:GQ:PL	0/1:11,14:25:99:358,0,296	18	0	1	0
chr19	8888803	8888803	G	A	exonic	MUC16	.	stopgain	MUC16:NM_024690:exon56:c.C40696T:p.Q13566X	.	387	1065	65	0	5	70	0.0296128	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs749709179	2.751e-06	0.0003	1.368e-06	4.147e-06	2.346e-05	6.4e-07	4.3e-07	3.89e-06	1.46e-06	0	0	0	0	1.892e-05	0	9.032e-07	0	2.346e-05	0.0003	0.0078	0.0003	0.0003	0.0007	0.0003	0.0002	0.0003	0.0002	0.0004	0	0.0002	0.0003	0.0006	0.0003	0	0.0003	0.0015	0.0007	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.853	0.84922	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.382006	0.88838	D	0.310949	0.88697	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	8.510432	0.97656	37	0.99651539778950882	0.77317	0.04167	0.09661	N	AEFDBI	0.050545	0.08845	N	0.108967690324694	0.46882	2.921777	-0.235756191989301	0.30265	1.702583	7.40119793528929E-5	0.04552	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	3.48	1.01	0.19044	-1.404000	0.02601	.	.	-0.183000	0.09960	0.000000	0.06391	0.000000	0.08366	0.014000	0.10232	0.0:0.0:0.5377:0.4623	7.596	0.27215	952	0.10565	SEA domain|SEA domain|SEA domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1579	8786.25	558	chr19	8888803	.	G	A	8786.25	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-0.756;DP=9279;ExcessHet=2.0135;FS=1.656;InbreedingCoeff=-0.2042;MLEAC=6;MLEAF=0.158;MQ=57.33;MQRankSum=-6.204;QD=3;ReadPosRankSum=1.62;SOR=0.555	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:439,50:489:38:.:.:38,0,17171:.	13	0	6	0
chr19	8888826	8888826	T	0	exonic	MUC16	.	.	.	.	415	770	176	0	161	337	0.102564	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4474	423.41	466	chr19	8888826	.	T	*	423.41	.	AC=17;AF=0.447;AN=38;BaseQRankSum=2.69;DP=7860;ExcessHet=48.2876;FS=8.285;InbreedingCoeff=-1;MLEAC=17;MLEAF=0.447;MQ=57.63;MQRankSum=-9.46;QD=0.05;ReadPosRankSum=0.739;SOR=1.296	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:304,70:415:99:0|1:8888826_T_*:2027,0,12553:8888826	2	0	17	0
chr19	8900017	8900017	C	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon38:c.G38968C:p.D12990H	.	419	985	117	1	0	119	0.0569651	.	.	.	3206446	MUC16-related_disorder	.	no_assertion_criteria_provided	Likely_benign	.	.	.	.	.	.	.	.	0.059	0.000862686160426	.	.	.	.	.	.	.	.	.	.	.	.	.	rs796074138	0	8.209e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	5.687e-05	0.0074	4.13e-05	7.351e-05	7.994e-05	2.742e-05	2.063e-05	2.119e-05	1.087e-05	7.994e-05	0	0	0	0	0.0003	0	3.068e-05	0	0	0.039	0.42487	D	0.066	0.44501	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.62	0.01834	T	0.49	0.02993	N	0.092	0.07125	-0.9370	0.43088	T	0.005	0.01506	T	8	0.0807575	0.13143	T	8.63E-4	0.00755	T	0.059	0.16972	0.123	0.02942	0.0401082797425	0.02173	0.1591635644427814	0.15837	.	.	0.225260436535	0.01636	T	.	.	.	-0.333606	0.05843	T	-0.716979	0.04943	T	0.120735882775226	0.14502	T	0.155884	0.01367	T	.	.	.	.	.	.	.	.	-5.876	0.45230	T	.	.	0.121	0.25199	B	.	.	-0.654509	0.01430	0.085	0.20142462625377641	0.00711	0.00266	0.01451	N	AEFBI	0.033829	0.04085	N	-1.20853826975404	0.04874	0.2209404	-1.39093098480509	0.03348	0.1559778	2.77626904626202E-5	0.03498	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.16	-2.32	0.06360	-4.258000	0.00301	.	.	-2.147000	0.00375	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.3314:0.4146:0.254:0.0	2.997	0.05636	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.3684	3536.2	316	chr19	8900017	.	C	G	3536.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.263;DP=4309;ExcessHet=17.0548;FS=3.59;InbreedingCoeff=-0.555;MLEAC=14;MLEAF=0.368;MQ=58.99;MQRankSum=-14.78;QD=0.96;ReadPosRankSum=1.67;SOR=1.126	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:263,23:286:99:0|1:8900009_C_T:174,0,10967:8900009	5	0	14	0
chr19	8960112	8960112	G	C	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.C16658G:p.T5553S	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.020	0.000557080928074	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.157e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.017	0.51248	D	0.829	0.03728	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.32	0.02387	T	-0.21	0.10308	N	0.075	0.04913	-0.9746	0.36213	T	0.006	0.02093	T	8	0.07552707	0.11684	T	5.57E-4	0.00221	T	0.020	0.03691	0.185	0.09388	0.0551355673512	0.04727	0.035792942912204175	0.03526	.	.	0.202649399638	0.00538	T	.	.	.	-0.349539	0.04756	T	-0.739865	0.03897	T	0.0618408806247755	0.07456	T	0.175282	0.01690	T	.	.	.	.	.	.	.	.	-6.16	0.47598	T	.	.	0.152	0.33687	B	.	.	-0.090120	0.03699	0.754	0.29992123822200517	0.01618	0.01671	0.05346	N	AEFBI	0.022470	0.01128	N	-1.07162818838596	0.07170	0.3322678	-1.15085085909645	0.06753	0.3261131	1.23712550126271E-4	0.05386	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	1.67	0.516	0.16217	0.166000	0.16400	.	.	0.497000	0.22564	0.000000	0.06391	0.000000	0.08366	0.007000	0.07825	0.2126:0.0:0.7874:0.0	4.470	0.11128	905	0.23532	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02941	243.15	136	chr19	8960112	.	G	C	243.15	.	AC=1;AF=0.029;AN=34;BaseQRankSum=-5.914;DP=2748;ExcessHet=0;FS=200.788;InbreedingCoeff=-0.0582;MLEAC=1;MLEAF=0.029;MQ=60;MQRankSum=0;QD=1.22;ReadPosRankSum=1.27;SOR=7.864	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:149,50:199:99:0|1:8960112_G_C:256,0,4071:8960112	16	0	1	2
chr19	8960197	8960197	A	G	exonic	MUC16	.	nonsynonymous SNV	MUC16:NM_024690:exon3:c.T16573C:p.S5525P	.	435	1076	10	1	0	12	0.00554529	.	.	.	716820	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.041	.	0.0051	0.00479233	0.0083	0.0013	0.0018	0	0.0181	0.0119	0.0067	0.0027	0.0079947	1236	154602	rs79202331	0.0082	0.0082	0.0082	0.0082	0.0111	0.0081	0.0080	0.0089	0.0087	0.0010	0.0025	0.0144	2.519e-05	0.0177	0.0111	0.0089	0.0071	0.0024	0.0072	0.0072	0.0072	0.0072	0.0097	0.0069	0.0067	0.0091	0.0088	0.0015	0	0.0075	0.0130	0	0.0172	0.0204	0.0097	0.0076	0.0029	0.097	0.30943	T	0.157	0.31730	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	4.19	0.02716	T	-0.54	0.16598	N	0.036	0.01068	-0.9867	0.33420	T	0.005	0.01833	T	8	0.0048202574	0.00102	T	.	.	.	0.041	0.10877	.	.	0.0297737177859	0.01360	0.022173761645922854	0.02169	.	.	0.198162183166	0.00405	T	.	.	.	-0.73462	0.00022	T	-0.815033	0.01555	T	0.0015036828539327	0.00015	T	0.150285	0.01269	T	.	.	.	.	.	.	.	.	-5.308	0.40022	T	.	.	0.093	0.14015	B	.	.	0.592832	0.09614	6.386	0.28077173634888841	0.01424	0.01306	0.04530	N	AEFBI	0.034542	0.04297	N	-1.25663538588278	0.04213	0.1897029	-1.33152552968312	0.04028	0.1891625	1.16888634297352E-4	0.05269	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.89	0.851	0.18128	0.085000	0.14759	.	.	-0.230000	0.07744	0.005000	0.17040	0.000000	0.08366	0.032000	0.13371	0.8048:0.0:0.1952:0.0	3.871	0.08542	905	0.23532	.	.	.	.	.	.	Likely benign	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	0.007049	0.000000	0.004076	0.011696	0.000000	0.008621	0.012195	0.003788	0.07895	8554.79	165	chr19	8960197	.	A	G	8554.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.287;DP=2949;ExcessHet=0.3672;FS=0.521;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=14.31;ReadPosRankSum=0.32;SOR=0.758	GT:AD:DP:GQ:PL	0/1:100,104:204:99:2861,0,2639	16	0	3	0
chr19	10110993	10110993	G	A	exonic	PPAN;PPAN-P2RY11	.	nonsynonymous SNV	PPAN:NM_001346141:exon11:c.G1091A:p.R364Q,PPAN-P2RY11:NM_001040664:exon12:c.G1250A:p.R417Q,PPAN-P2RY11:NM_001198690:exon12:c.G1250A:p.R417Q,PPAN:NM_001346139:exon12:c.G1247A:p.R416Q,PPAN:NM_020230:exon12:c.G1250A:p.R417Q	.	418	1097	7	0	0	7	0.00318037	.	.	.	4020663	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.046	.	0.0069	0.00199681	0.0084	0.0008	0.0022	0	0.0161	0.0130	0.0067	0.0004	0.0078654	1216	154602	rs74406884	0.0081	0.0081	0.0082	0.0080	0.0087	0.0080	0.0079	0.0085	0.0085	0.0017	0.0029	0.0272	2.519e-05	0.0139	0.0029	0.0087	0.0086	0.0005	0.0072	0.0072	0.0068	0.0075	0.0102	0.0068	0.0067	0.0096	0.0093	0.0014	0	0.0046	0.0274	0	0.0145	0	0.0102	0.0062	0.0004	0.568	0.17126	T	0.337	0.18178	T	0.014	0.16867	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.69	0.16971	N	1.51	0.61677	T	-0.28	0.11547	N	0.07	0.09349	-1.0609	0.11532	T	0.058	0.24167	T	8	0.0029360354	0.00047	T	.	.	.	0.046	0.12618	.	.	0.0846915920261	0.08053	0.14836677046078955	0.14758	0.0774941032052	0.08717	.	.	.	0.04347	0.26512	T	-0.511701	0.00491	T	-0.495475	0.22818	T	0.00144275889447176	0.00014	T	0.444656	0.12799	T	0.026290843	0.01669	0.05348595	0.09018	0.026290843	0.01668	0.05348595	0.09018	-2.205	0.04064	T	.	.	0.092	0.14155	B	.;.;.;.	.;.;.;.	0.693041	0.10619	7.319	0.75895248164057005	0.11253	0.02021	0.06069	N	AEFDBCI	0.054771	0.09988	N	-1.64371025404103	0.01062	0.04607651	-1.74030537857526	0.00970	0.04346208	0.999999540168426	0.74766	0.706548	0.73137	0	0.672317	0.65289	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	0.046	-0.093	0.12988	0.480000	0.21954	-1.210000	0.06016	-1.302000	0.01243	0.005000	0.17040	0.957000	0.29195	0.001000	0.02609	.	.	.	929	0.16858	.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.001556	0.000000	0.001359	0.000000	0.000000	0.000000	0.006098	0.000000	0.02632	1843.33	43	chr19	10110993	.	G	A	1843.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.11;DP=819;ExcessHet=0;FS=0.687;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.11;ReadPosRankSum=-1.377;SOR=0.614	GT:AD:DP:GQ:PL	0/1:55,67:122:99:1857,0,1270	18	0	1	0
chr19	10288065	10288065	G	A	exonic	ICAM4	.	nonsynonymous SNV	ICAM4:NM_001039132:exon3:c.G700A:p.V234I	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.048	0.00693435395347	.	.	1.648e-05	0	0	0	0	0	0	0.0001	1.94e-05	3	154602	rs370615268	1.505e-05	1.505e-05	8.167e-06	2.2e-05	0.0002	9.85e-06	8.41e-06	5.395e-05	4.042e-05	0	0	0	5.038e-05	0	0.0002	5.396e-06	6.623e-05	0.0001	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	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.003448	0.00962	N	4.260870	1	0.21473	N	.	.	.	1.85	0.24472	T	0.02	0.06739	N	0.126	0.11912	-1.0168	0.24755	T	0.048	0.20513	T	9	0.054804623	0.05891	T	0.006934	0.18345	T	0.048	0.13305	0.202	0.11659	0.0482279557977	0.04254	0.09562541607459252	0.09494	0.554696742166	0.52201	0.315724611282	0.12774	T	.	.	.	-0.386583	0.02830	T	-0.556407	0.16716	T	0.484380602836609	0.32058	T	0.429357	0.11628	T	.	.	.	.	.	.	.	.	-4.331	0.28610	T	.	.	0.106	0.19720	B	.	.	1.018124	0.13976	10.54	0.96479692078929125	0.29967	0.11809	0.16875	N	ALL	0.033365	0.03942	N	-0.947452924547697	0.09749	0.4628218	-1.0258277621542	0.09219	0.457422	0.999999999996826	0.74766	0.676563	0.55306	0	0.609123	0.50646	0	0.673471	0.61138	0	0.620976	0.48614	0	.	.	3.77	1.62	0.22817	-0.083000	0.11250	0.216000	0.16018	-0.187000	0.09635	0.000000	0.06391	0.009000	0.19889	0.003000	0.05239	0.0:0.6527:0.2278:0.1196	5.138	0.14274	600	0.68026	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02632	1173.33	34	chr19	10288065	.	G	A	1173.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.94;DP=734;ExcessHet=0;FS=0.755;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.915;SOR=0.576	GT:AD:DP:GQ:PL	0/1:53,47:100:99:1187,0,1229	18	0	1	0
chr19	10631490	10631490	C	T	exonic	SLC44A2	.	nonsynonymous SNV	SLC44A2:NM_001145056:exon7:c.C451T:p.L151F,SLC44A2:NM_001363611:exon7:c.C457T:p.L153F,SLC44A2:NM_020428:exon7:c.C457T:p.L153F	.	420	1086	14	2	0	18	0.00821918	.	.	.	2811565	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.134	.	0.0046	0.00119808	0.0043	0.0012	0.0027	0	0.0011	0.0066	0.0044	0.0018	0.004269	660	154602	rs147820753	0.0053	0.0053	0.0054	0.0052	0.0061	0.0052	0.0051	0.0060	0.0059	0.0012	0.0038	0.0060	2.519e-05	0.0015	0.0049	0.0061	0.0049	0.0017	0.0042	0.0042	0.0047	0.0037	0.0070	0.0039	0.0038	0.0065	0.0063	0.0011	0	0.0045	0.0063	0	0.0007	0.0034	0.0070	0.0043	0.0008	0.008	0.65419	D	0.072	0.51737	T	0.149	0.27956	B	0.26	0.39460	B	0.000731	0.42129	D	0.207551	0.999687	0.48270	D	3.355	0.91145	M	1.92	0.23082	T	-2.45	0.53577	N	0.284	0.32148	-1.0997	0.04128	T	0.043	0.18701	T	10	0.0039951503	0.00077	T	.	.	.	0.134	0.36365	.	.	0.467247493403	0.46351	0.8331735572011452	0.83276	0.460764587813	0.45631	0.57872068882	0.49906	T	0.110705	0.59963	T	-0.414945	0.01844	T	-0.362277	0.37787	T	0.0778227691841469	0.09706	T	0.710029	0.40874	T	0.17049186	0.37626	0.18059826	0.40869	0.17049186	0.37626	0.18059826	0.40868	-8.331	0.63304	D	.	.	0.459	0.65444	A	.;.;.;.;.	.;.;.;.;.	3.717994	0.53115	23.3	0.99811418551868991	0.89531	0.96237	0.68167	D	AEFDGBI	0.580958	0.58116	D	0.096398637139644	0.46294	2.872031	0.121495831935482	0.45650	2.824449	0.999994654175628	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.697927	0.64325	0	0.714379	0.83352	0	.	.	4.87	4.87	0.62877	3.429000	0.52567	3.287000	0.37275	0.598000	0.34611	1.000000	0.71638	1.000000	0.68203	0.881000	0.42162	0.0:0.9113:0.0:0.0887	11.149	0.47669	814	0.42100	.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.008560	0.025253	0.010870	0.000000	0.000000	0.008621	0.009146	0.000000	0.02632	2398.33	132	chr19	10631490	.	C	T	2398.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.703;DP=2053;ExcessHet=0;FS=2.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=23.51;ReadPosRankSum=-1.847;SOR=0.906	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:41,61:102:99:0|1:10631490_C_T:2412,0,1514:10631490	18	0	1	0
chr19	11487712	11487712	C	T	exonic	ZNF653	.	nonsynonymous SNV	ZNF653:NM_138783:exon4:c.G751A:p.V251M	.	427	1082	13	0	0	13	0.00597152	.	.	.	2811599	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.052	0.00620692297086	0.0048	0.00179712	0.0045	0.0033	0.0018	0	0.0064	0.0061	0.0034	0.0026	0.0044566	689	154602	rs140179197	0.0056	0.0056	0.0055	0.0056	0.0065	0.0055	0.0054	0.0063	0.0063	0.0038	0.0021	7.656e-05	0	0.0052	0.0024	0.0065	0.0043	0.0025	0.0042	0.0042	0.0044	0.0040	0.0061	0.0039	0.0038	0.0056	0.0055	0.0033	0	0.0018	0.0003	0	0.0036	0	0.0061	0.0024	0.0025	0.145	0.25154	T	0.104	0.38160	T	0.066	0.23586	B	0.007	0.12992	B	0.665997	0.10385	N	0.848002	0.592312	0.31009	N	0.345	0.11182	N	2.8	0.11082	T	0.24	0.04533	N	0.238	0.26837	-1.0795	0.07446	T	0.009	0.03403	T	10	0.005102366	0.00110	T	0.006207	0.16288	T	0.052	0.14661	.	.	0.340032825777	0.33618	0.2615099889713293	0.26063	0.191270352614	0.21451	0.576436936855	0.49583	T	0.023085	0.17685	T	-0.586708	0.00176	T	-0.609569	0.12020	T	0.00482236284443729	0.00052	T	0.729627	0.34527	T	0.065100916	0.13880	0.062361695	0.12187	0.065100916	0.13880	0.062361695	0.12187	-4.897	0.35701	T	.	.	0.166	0.36673	B	.	.	2.053901	0.26112	17.00	0.97824821111115767	0.36220	0.49554	0.28460	N	AEFDGBI	0.074435	0.14919	N	-0.38601774951174	0.25967	1.413592	-0.212332017260941	0.31092	1.756436	0.00193273689787783	0.09019	0.700653	0.57754	0	0.653731	0.59785	0	0.717052	0.78885	0	0.699875	0.68795	0	.	.	4.49	3.2	0.35826	0.887000	0.27891	.	.	0.591000	0.32079	0.973000	0.34540	0.000000	0.08366	0.978000	0.57271	0.0:0.7833:0.0:0.2167	6.927	0.23598	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	0	0	1	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.07895	5299.79	35	chr19	11487712	.	C	T	5299.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.207;DP=1250;ExcessHet=0.3672;FS=0.52;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=11.86;ReadPosRankSum=0.793;SOR=0.631	GT:AD:DP:GQ:PL	0/1:54,73:127:99:1824,0,1222	16	0	3	0
chr19	12673255	12673255	G	A	exonic	WDR83	.	nonsynonymous SNV	WDR83:NM_032332:exon8:c.G737A:p.R246H,WDR83:NM_001099737:exon10:c.G737A:p.R246H	.	424	1096	2	0	0	2	0.000911577	.	.	.	2340427	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.047	0.0455378726101	.	.	0.0002	0	0.0005	0.0001	0	0.0003	0	6.058e-05	0.0001876	29	154602	rs199685737	0.0002	0.0002	0.0001	0.0002	0.0012	0.0001	0.0001	0.0006	0.0004	2.987e-05	0.0003	0	0	0	0.0012	0.0002	0.0002	8.115e-05	0.0001	0.0001	0.0001	8.069e-05	0.0002	7.095e-05	5.751e-05	0.0001	8.88e-05	2.409e-05	0	0.0002	0	0	0	0	0.0002	0	0	0.066	0.36113	T	0.108	0.37589	T	0.187	0.29285	B	0.015	0.17295	B	0.000101	0.50451	D	0.174525	0.816316	0.34712	D	0.55	0.14455	N	-1.46	0.80983	T	-1.03	0.27052	N	0.452	0.48963	-0.8948	0.48502	T	0.119	0.41669	T	10	0.15356863	0.28984	T	0.045538	0.62027	D	0.209	0.49871	0.425	0.47021	0.57604792508	0.57274	0.22793021654979237	0.22708	0.829311628033	0.67554	0.436872065067	0.30150	T	0.34768	0.71577	T	-0.177782	0.24067	T	-0.195588	0.55063	T	0.0450481772422791	0.04612	T	0.910909	0.68443	D	0.036502175	0.04503	0.04003048	0.04233	0.036502175	0.04503	0.04003048	0.04233	-4.411	0.29706	T	.	.	0.100	0.17232	B	.	.	2.963104	0.39466	21.0	0.99908816198209072	0.97875	0.70790	0.34737	D	AEFDBHCI	0.163771	0.29009	N	0.0255893592396282	0.43020	2.603303	0.091596821816124	0.44123	2.70034	0.850260083033605	0.25031	0.706548	0.73137	0	0.702456	0.74545	0	0.643519	0.47002	0	0.714379	0.83352	0	.	.	5.43	4.4	0.52402	3.283000	0.51405	.	.	0.672000	0.70159	0.999000	0.42656	0.999000	0.35428	0.514000	0.29336	0.166:0.0:0.834:0.0	9.303	0.37017	735	0.53711	WD40-repeat-containing domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1513.33	36	chr19	12673255	.	G	A	1513.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.8;DP=814;ExcessHet=0;FS=0.621;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.73;ReadPosRankSum=1.55;SOR=0.78	GT:AD:DP:GQ:PL	0/1:71,70:141:99:1527,0,1586	18	0	1	0
chr19	14053906	14053906	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1568C:p.G523A,PALM3:NM_001145028:exon7:c.G1766C:p.G589A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.02632	93.33	42	chr19	14053906	.	C	G	93.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-6.302;DP=957;ExcessHet=0;FS=57.675;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=0.63;ReadPosRankSum=0.968;SOR=6.273	GT:AD:DP:GQ:PL	0/1:125,22:147:99:107,0,4607	18	0	1	0
chr19	14053907	14053907	C	G	exonic	PALM3	.	nonsynonymous SNV	PALM3:NM_001367327:exon5:c.G1567C:p.G523R,PALM3:NM_001145028:exon7:c.G1765C:p.G589R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1071	141.21	42	chr19	14053907	.	C	G	141.21	.	AC=3;AF=0.107;AN=28;BaseQRankSum=-4.59;DP=2147;ExcessHet=0.3672;FS=118.101;InbreedingCoeff=-0.1673;MLEAC=3;MLEAF=0.107;MQ=60;MQRankSum=0;QD=0.32;ReadPosRankSum=0.812;SOR=9.087	GT:AD:DP:GQ:PL	0/1:119,22:144:99:114,0,4577	11	0	3	5
chr19	16501519	16501519	G	A	exonic	C19orf44	.	nonsynonymous SNV	C19orf44:NM_001288834:exon2:c.G727A:p.V243I,C19orf44:NM_032207:exon2:c.G727A:p.V243I	.	479	1041	1	1	0	3	0.00143885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.146	0.00466426299751	.	0.000199681	3.368e-05	0.0001	8.709e-05	0	0	3.056e-05	0	0	3.23e-05	5	154602	rs188780108	2.302e-05	2.189e-05	1.503e-05	3.136e-05	0.0004	1.633e-05	1.417e-05	6.881e-05	2.877e-05	7.318e-05	8.288e-05	0	0	2.093e-05	0.0004	1.649e-05	9.509e-05	1.681e-05	3.293e-05	3.284e-05	6.442e-05	0	4.414e-05	1.263e-05	7.99e-06	1.172e-05	6.25e-06	2.415e-05	0	0	0	0	9.568e-05	0	4.414e-05	0	0	0.044	0.41096	D	0.305	0.20551	T	0.994	0.66517	D	0.669	0.53077	P	0.247704	0.15576	N	0.475580	1	0.19486	N	1.435	0.35949	L	.	.	.	-0.48	0.15379	N	0.023	0.03726	-1.0101	0.26886	T	0.139	0.45734	T	9	0.09088123	0.15871	T	0.004664	0.11566	T	0.146	0.38789	.	.	0.0806252709748	0.07271	0.06933652505517159	0.06871	0.310238895181	0.33346	.	.	.	0.039365	0.25164	T	-0.416397	0.01804	T	-0.63893	0.09746	T	0.0346549339592457	0.02749	T	0.423358	0.11306	T	0.035480227	0.04184	0.036461588	0.03098	0.035480227	0.04184	0.036461588	0.03098	-3.492	0.16320	T	.	.	0.077	0.06710	B	.;.	.;.	0.642386	0.10110	6.855	0.98234808365413351	0.39423	0.12995	0.17602	N	AEFBI	0.032473	0.03677	N	-0.161995612911454	0.34726	1.985652	-0.334454549210748	0.26994	1.494833	0.0363739065528694	0.14242	0.651	0.46895	0	0.708844	0.79440	0	0.65145	0.50148	0	0.683762	0.67416	0	.	.	4.34	3.19	0.35720	0.588000	0.23626	0.458000	0.18589	-0.734000	0.03706	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.0:0.7016:0.2984	8.968	0.35051	794	0.45591	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	1478.83	35	chr19	16501519	.	G	A	1478.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.38;DP=835;ExcessHet=0.119;FS=4.044;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=8.96;ReadPosRankSum=0.679;SOR=1.022	GT:AD:DP:GQ:PL	0/1:52,37:89:99:845,0,1246	17	0	2	0
chr19	17286690	17286692	GTT	0	exonic	ANKLE1	.	.	.	.	521	443	240	2	316	560	0.215929	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	1637.94	40	chr19	17286690	.	GTT	*	1637.94	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.46;DP=1151;ExcessHet=0.463;FS=1.245;InbreedingCoeff=0.1559;MLEAC=14;MLEAF=0.368;MQ=59.99;MQRankSum=0;QD=3.04;ReadPosRankSum=1.16;SOR=0.576	GT:AD:DP:GQ:PGT:PID:PL:PS	1/0:0,44:55:99:.:.:2150,443,741:.	7	2	10	0
chr19	17286692	17286692	T	0	exonic	ANKLE1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5556	2986.13	40	chr19	17286692	.	T	*	2986.13	.	AC=20;AF=0.556;AN=36;BaseQRankSum=0;DP=1155;ExcessHet=0.5777;FS=0;InbreedingCoeff=0.0134;MLEAC=21;MLEAF=0.583;MQ=59.97;MQRankSum=0;QD=4.33;ReadPosRankSum=1.35;SOR=0.666	GT:AD:DP:GQ:PL	1/1:0,55:55:99:2710,190,0	4	6	8	1
chr19	17727938	17727938	A	G	exonic	MAP1S	.	nonsynonymous SNV	MAP1S:NM_001308363:exon5:c.A2476G:p.T826A,MAP1S:NM_018174:exon5:c.A2554G:p.T852A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.00562466648117	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1423428240	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.687	0.04340	T	0.869	0.03852	T	0.007	0.14184	B	0.004	0.10090	B	0.249943	0.03640	N	1.638310	1	0.08975	N	0.115	0.08564	N	2.41	0.15492	T	-0.3	0.12661	N	0.077	0.05162	-1.0115	0.26447	T	0.018	0.07329	T	10	0.049282044	0.04496	T	0.005625	0.14530	T	0.006	0.00375	0.253	0.19223	0.138757226776	0.13463	0.12005685619456798	0.11932	0.288792920878	0.31287	0.326857328415	0.14459	T	0.044539	0.26848	T	-0.396636	0.02436	T	-0.807516	0.01722	T	0.0148844715347292	0.00315	T	0.443356	0.12326	T	0.013861992	0.00072	0.018623823	0.00061	0.013861992	0.00072	0.018623823	0.00061	-2.51	0.05983	T	.	.	0.061	0.01092	B	.;.	.;.	0.646833	0.10153	6.896	0.26084419815383331	0.01233	0.14070	0.18206	N	AEFDGBCI	0.149617	0.27374	N	-1.56417805367276	0.01454	0.06342297	-1.53567801563424	0.02076	0.09494394	0.00285125304908809	0.09753	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.67	-0.513	0.11365	-0.012000	0.12637	1.755000	0.28506	-0.875000	0.02511	0.000000	0.06391	0.036000	0.21445	0.003000	0.05239	0.2062:0.3252:0.0:0.4686	3.069	0.05850	964	0.07719	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	1655.33	37	chr19	17727938	.	A	G	1655.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.357;DP=855;ExcessHet=0;FS=1.394;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.73;ReadPosRankSum=-0.541;SOR=0.565	GT:AD:DP:GQ:PL	0/1:63,67:130:99:1669,0,1619	18	0	1	0
chr19	18219278	18219278	G	C	exonic	PDE4C	.	nonsynonymous SNV	PDE4C:NM_001369701:exon7:c.C229G:p.P77A,PDE4C:NM_001098818:exon8:c.C826G:p.P276A,PDE4C:NM_001098819:exon8:c.C604G:p.P202A,PDE4C:NM_000923:exon9:c.C922G:p.P308A,PDE4C:NM_001330172:exon9:c.C922G:p.P308A	.	434	1075	13	0	0	13	0.00601017	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.343	0.128041420134	0.0018	0.00139776	0.0020	0.0002	0.0016	0	0.0014	0.0031	0.0011	0.0003	0.0019922	308	154602	rs147234546	0.0024	0.0024	0.0024	0.0023	0.0042	0.0023	0.0023	0.0029	0.0024	0.0003	0.0021	0.0152	0	0.0013	0.0042	0.0024	0.0031	0.0004	0.0020	0.0020	0.0020	0.0019	0.0024	0.0018	0.0017	0.0021	0.0020	0.0007	0	0.0022	0.0176	0	0.0010	0	0.0024	0.0019	0.0004	0.053	0.38863	T	0.039	0.52389	D	0.904	0.49848	P	0.103	0.30945	B	0.000002	0.62929	D	0.059348	0.957005	0.38002	D	2.38	0.68558	M	-0.63	0.72011	T	-5.3	0.84601	D	0.544	0.58031	0.336	0.88125	D	0.569	0.84395	D	10	0.011885911	0.00258	T	0.128041	0.80993	D	0.343	0.66488	.	.	0.912814792197	0.91193	0.5164798107132754	0.51570	1.12752289252	0.78496	0.461168706417	0.33470	T	0.354183	0.72137	T	-0.294429	0.09195	T	-0.198124	0.54824	T	0.0513903454280423	0.05743	T	0.918108	0.70532	D	0.3602891	0.57858	0.3591059	0.61375	0.3602891	0.57858	0.3591059	0.61374	-8.729	0.69267	D	.	.	0.133	0.38587	B	.;.;.;.;.;.	.;.;.;.;.;.	4.272984	0.65030	24.8	0.98128504727508492	0.38498	0.98328	0.81675	D	AEFDBI	0.781233	0.71288	D	0.32924278545193	0.57653	3.933662	0.315147164248647	0.56431	3.806229	0.616392387010096	0.21847	0.615465	0.37627	0	0.626922	0.53725	0	0.658983	0.55881	0	0.562822	0.20929	0	.	.	4.53	4.53	0.55009	4.370000	0.59288	8.150000	0.76709	0.526000	0.24426	1.000000	0.71638	1.000000	0.68203	0.941000	0.48210	0.0:0.0:1.0:0.0	14.765	0.69250	911	0.21964	.;.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.000000	0.002717	0.002924	0.000000	0.000000	0.006098	0.000000	0.02632	1232.33	35	chr19	18219278	.	G	C	1232.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0;DP=752;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.85;ReadPosRankSum=1.24;SOR=0.7	GT:AD:DP:GQ:PL	0/1:34,49:83:99:1246,0,816	18	0	1	0
chr19	18667405	18667405	G	C	exonic	KLHL26	.	nonsynonymous SNV	KLHL26:NM_001345985:exon3:c.G271C:p.E91Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.000687497904195	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.088e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	0.939587	0.26832	N	.	.	.	1.99	0.21666	T	.	.	.	0.084	0.06059	.	.	.	.	.	.	.	0.083473	0.13890	T	6.87E-4	0.00418	T	.	.	.	.	0.359763055319	0.35592	.	.	.	.	.	.	.	0.013743	0.11830	T	-0.204846	0.20110	T	-0.532024	0.19085	T	.	.	.	0.323368	0.06588	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.079	0.07460	B	.	.	-0.096785	0.03660	0.734	0.75824425077734603	0.11225	0.00145	0.00883	N	AEFBI	0.019080	0.00631	N	.	.	.	.	.	.	0.0726245442509791	0.15607	0.580535	0.33130	0	0.601575	0.49859	0	0.576033	0.28219	0	0.727631	0.95156	0	.	.	0.862	-0.602	0.11051	-1.114000	0.03404	-0.106000	0.11884	-0.566000	0.04804	0.002000	0.15269	0.002000	0.18203	0.031000	0.13245	0.4852:0.0:0.5148:0.0	2.631	0.04645	917	0.20147	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	296.33	34	chr19	18667405	.	G	C	296.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.77;DP=707;ExcessHet=0;FS=4.039;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.4;ReadPosRankSum=-1.324;SOR=1.863	GT:AD:DP:GQ:PL	0/1:15,11:26:99:310,0,405	18	0	1	0
chr19	20198071	20198071	G	T	exonic	ZNF486	.	nonsynonymous SNV	ZNF486:NM_052852:exon4:c.G1361T:p.R454I	.	423	1093	6	0	0	6	0.00273723	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00112615754746	.	0.000798722	6.178e-05	0	0.0008	0	0	0	0	0	0.0001358	21	154602	rs546556139	9.229e-05	9.303e-05	7.805e-05	0.0001	0.0029	7.945e-05	7.416e-05	0.0025	0.0023	0.0001	0.0029	0	0	0	0	9.034e-07	6.665e-05	0	0.0011	0.0011	0.0007	0.0015	0.0108	0.0010	0.0009	0.0095	0.0090	4.815e-05	0	0.0108	0	0	0	0	0	0	0	0.323	0.13436	T	0.232	0.24987	T	0.001	0.07471	B	0.002	0.06944	B	.	.	.	.	0.992375	0.41628	D	2.085	0.57729	M	2.92	0.09915	T	-0.57	0.17210	N	0.175	0.18784	-1.0569	0.12543	T	0.025	0.10464	T	9	0.0068361163	0.00155	T	0.001126	0.01360	T	0.032	0.07718	0.624	0.75916	0.0986583533028	0.09354	0.01058962253952583	0.01019	0.00177889787293	0.00149	0.24459785223	0.03220	T	0.004021	0.03433	T	-0.608304	0.00130	T	-0.650554	0.08915	T	0.0244065184013429	0.01196	T	0.458954	0.13262	T	0.03534747	0.04144	0.03524559	0.02741	0.03534747	0.04144	0.03524559	0.02740	-4.674	0.33088	T	.	.	0.091	0.13127	B	.	.	-0.345811	0.02423	0.273	0.81839915397405882	0.13887	0.04544	0.10180	N	AEFBHCI	0.036649	0.04916	N	-0.836196919353042	0.12392	0.6037711	-0.909003614812255	0.11881	0.6080216	8.96675411636681E-6	0.01202	0.660377	0.49826	0	0.588015	0.36545	0	0.696353	0.63694	0	0.635551	0.53088	0	.	.	0.85	-0.442	0.11641	-0.353000	0.07740	.	.	-0.642000	0.04431	0.000000	0.06391	0.000000	0.08366	0.032000	0.13371	0.6429:0.0:0.3571:0.0	3.383	0.06840	958	0.09170	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	.	.	.	.	.	.	.	.	0.02632	1374.33	33	chr19	20198071	.	G	T	1374.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.988;DP=736;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.02;ReadPosRankSum=-0.327;SOR=0.723	GT:AD:DP:GQ:PL	0/1:42,56:98:99:1388,0,1051	18	0	1	0
chr19	21383191	21383191	G	A	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.G645A:p.M215I	.	525	981	16	0	0	16	0.00808898	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs910428921	1.384e-06	0.0003	0	2.783e-06	2.276e-05	2.3e-07	9e-08	.	.	0	2.276e-05	0	0	0	0	9.092e-07	0	0	0	0.0038	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.25	3242.86	183	chr19	21383191	.	G	A	3242.86	.	AC=8;AF=0.25;AN=32;BaseQRankSum=-0.267;DP=2155;ExcessHet=4.0268;FS=7.059;InbreedingCoeff=-0.3333;MLEAC=9;MLEAF=0.281;MQ=58.7;MQRankSum=-11.53;QD=2.49;ReadPosRankSum=-1.253;SOR=1.407	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:139,18:157:99:0|1:21383168_A_G:337,0,5782:21383168	8	0	8	3
chr19	21383196	21383196	T	C	exonic	ZNF738	.	nonsynonymous SNV	ZNF738:NM_001355237:exon5:c.T650C:p.L217S	.	531	981	10	0	0	10	0.00507099	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1380787073	0	0.0001	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	6.719e-06	0.0012	1.31e-05	0	1.497e-05	0	0	.	.	0	0	0	0	0	0	0	1.497e-05	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2353	2200.43	182	chr19	21383196	.	T	C	2200.43	.	AC=8;AF=0.235;AN=34;BaseQRankSum=1.69;DP=2105;ExcessHet=4.0268;FS=7.984;InbreedingCoeff=-0.3099;MLEAC=9;MLEAF=0.265;MQ=58.83;MQRankSum=-11.88;QD=1.72;ReadPosRankSum=-1.247;SOR=1.604	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,13:156:99:0|1:21383168_A_G:115,0,5965:21383168	9	0	8	2
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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1579	1572.62	181	chr19	21383203	.	A	AACTC	1572.62	.	AC=6;AF=0.158;AN=38;BaseQRankSum=1.25;DP=2083;ExcessHet=2.0135;FS=8.544;InbreedingCoeff=-0.1909;MLEAC=6;MLEAF=0.158;MQ=58.86;MQRankSum=-12.12;QD=1.64;ReadPosRankSum=-1.552;SOR=1.651	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:143,12:155:73:0|1:21383168_A_G:73,0,5968:21383168	13	0	6	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.1667	1490.66	183	chr19	21383205	.	GTCAA	G	1490.66	.	AC=6;AF=0.167;AN=36;BaseQRankSum=5.08;DP=1945;ExcessHet=2.0135;FS=8.452;InbreedingCoeff=-0.2068;MLEAC=6;MLEAF=0.167;MQ=58.77;MQRankSum=-12.23;QD=1.53;ReadPosRankSum=-1.111;SOR=1.613	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:144,12:156:70:0|1:21383168_A_G:70,0,6010:21383168	12	0	6	1
chr19	21971982	21971982	C	G	exonic	ZNF208	.	nonsynonymous SNV	ZNF208:NM_007153:exon4:c.G3052C:p.E1018Q	.	421	1093	8	0	0	8	0.00364631	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.002	.	7.9e-05	0.00279553	0.0008	0	0	0.0110	0	3e-05	0	0.0003	0.0006531	17	26028	rs147587683	0.0005	0.0005	0.0005	0.0004	0.0144	0.0004	0.0004	0.0135	0.0131	0	0	7.659e-05	0.0144	0	0.0012	3.688e-05	0.0003	0.0004	0.0004	0.0004	0.0003	0.0005	0.0109	0.0003	0.0003	0.0086	0.0077	0	0	6.713e-05	0	0.0109	0	0	2.994e-05	0	0.0004	0.528	0.07071	T	0.613	0.08052	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	-0.26	0.03792	N	3.11	0.08194	T	0.18	0.05035	N	0.084	0.06059	-0.9086	0.47025	T	0.006	0.01981	T	8	0.0075612366	0.00172	T	.	.	.	0.002	0.00045	.	.	0.0611884634855	0.05136	0.004480461146775183	0.00421	0.00859954335189	0.00783	0.456201434135	0.32791	T	0.001562	0.01004	T	-0.758583	0.00015	T	-0.854467	0.00905	T	0.0113266873565474	0.00168	T	0.0191981	0.00194	T	0.04120666	0.06027	0.027584784	0.00922	0.04120666	0.06027	0.027584784	0.00922	-8.425	0.63931	D	.	.	0.184	0.39915	B	.;.	.;.	-0.869215	0.00978	0.039	0.10733587385434182	0.00143	0.01285	0.04481	N	AEFBHCI	0.030660	0.03130	N	-1.2968048760855	0.03714	0.1664003	-1.41793932087278	0.03072	0.1426226	1.68742427206965E-6	0.01202	0.487112	0.14033	0	0.573888	0.26702	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.45	-1.69	0.07747	-2.876000	0.00786	.	.	-1.231000	0.01326	0.000000	0.06391	0.001000	0.17328	0.000000	0.00833	0.0:0.5569:0.0:0.4431	7.821	0.28450	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001060	0.000000	0.000000	0.000000	0.000000	0.000000	0.003086	0.003817	0.02632	2169.33	40	chr19	21971982	.	C	G	2169.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.26;DP=1629;ExcessHet=0;FS=4.828;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.77;MQRankSum=1.55;QD=14.18;ReadPosRankSum=0.899;SOR=0.444	GT:AD:DP:GQ:PL	0/1:70,83:153:99:2183,0,1811	18	0	1	0
chr19	23223989	23223989	G	A	exonic	ZNF724	.	nonsynonymous SNV	ZNF724:NM_001355404:exon4:c.C256T:p.R86W,ZNF724:NM_001355405:exon4:c.C64T:p.R22W,ZNF724:NM_001355406:exon5:c.C238T:p.R80W	.	456	1059	7	0	0	7	0.00329412	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.029	.	.	0.000599042	0.0020	0.0002	0	0	0	0.0007	0	0.0110	0.0010155	157	154602	rs201600731	0.0009	0.0009	0.0006	0.0012	0.0062	0.0009	0.0008	0.0057	0.0055	0	0.0003	0.0030	0	0	0.0060	0.0002	0.0007	0.0062	0.0004	0.0004	0.0003	0.0005	0.0068	0.0003	0.0003	0.0050	0.0044	0	0	0.0002	0.0009	0	9.461e-05	0.0034	0.0002	0.0005	0.0068	1.0	0.00964	T	0.44	0.13328	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	3.22	0.07024	T	10.42	0.00000	N	0.195	0.21449	-0.9345	0.43470	T	0.013	0.05273	T	8	0.005791247	0.00129	T	.	.	.	0.029	0.06676	0.361	0.36548	0.137902524267	0.13322	0.05825486345427175	0.05766	0.122939414534	0.13855	.	.	.	0.003592	0.03000	T	-0.645954	0.00077	T	-0.695095	0.06097	T	0.00172272489118834	0.00018	T	0.090191	0.02467	T	0.030656675	0.02766	0.030080814	0.01420	0.030656675	0.02766	0.030080814	0.01420	1.036	0.00127	T	.	.	0.071	0.06114	B	.;.;.	.;.;.	0.531392	0.09002	5.783	0.044671726736230974	0.00003	0.00075	0.00520	N	AEFBCI	0.020953	0.00882	N	-1.17255327450351	0.05418	0.2469752	-1.26992913276605	0.04843	0.2294047	3.04484372867719E-4	0.06454	0.706548	0.73137	0	0.546412	0.12157	0	0.724815	0.87919	0	0.491896	0.07777	0	.	.	1.28	1.28	0.20656	-0.301000	0.08269	.	.	-0.411000	0.05262	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.7289:0.0:0.2711:0.0	3.320	0.06634	988	0.01987	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	2473.83	67	chr19	23223989	.	G	A	2473.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.48;DP=1227;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.08;ReadPosRankSum=-0.118;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:42,50:92:99:.:.:1320,0,1000:.	17	0	2	0
chr19	32999679	32999679	G	A	exonic	RHPN2	.	stopgain	RHPN2:NM_033103:exon10:c.C1132T:p.Q378X	.	392	647	479	4	0	487	0.273442	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.2531	0.3917	0.1262	0.2590	0.2378	0.2220	0.2567	0.3809	0.0003842	10	26028	rs78615454	1.45e-05	0.0007	1.512e-05	1.387e-05	0.0011	9.32e-06	7.91e-06	0.0005	0.0003	0	2.247e-05	0	0	0	0.0011	9.078e-07	0	0.0002	0	1.97e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.000000	0.84330	D	0.000000	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.295	0.33360	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.195965	0.73516	D	0.652534	0.98317	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive	High	9.996723	0.99494	44	0.99829210797084544	0.91112	0.99069	0.90771	D	AEFDBI	0.292062	0.40303	N	1.04336661485944	0.96932	15.344	0.880771434466692	0.94678	12.953	0.999999999954891	0.74766	0.67177	0.52595	0	0.708844	0.79440	0	0.702456	0.68683	0	0.567892	0.33627	0	.	.	4.72	4.72	0.59248	9.105000	0.93598	11.713000	0.94685	0.604000	0.46097	1.000000	0.71638	1.000000	0.68203	0.930000	0.46718	0.0:0.0:1.0:0.0	17.685	0.88159	819	0.41190	BRO1 domain|BRO1 domain|BRO1 domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.282981	0.237374	0.312500	0.260234	0.250000	0.301724	0.234756	0.329545	0.1579	1182.37	210	chr19	32999679	.	G	A	1182.37	.	AC=6;AF=0.158;AN=38;BaseQRankSum=-3.027;DP=3336;ExcessHet=2.0135;FS=2.622;InbreedingCoeff=-0.1869;MLEAC=6;MLEAF=0.158;MQ=55.09;MQRankSum=-5.133;QD=1;ReadPosRankSum=4.16;SOR=0.749	GT:AD:DP:GQ:PL	0/1:185,39:224:99:348,0,5085	13	0	6	0
chr19	35034040	35034040	G	A	exonic	SCN1B	.	nonsynonymous SNV	SCN1B:NM_199037:exon3:c.G749A:p.R250K	Atrial fibrillation, familial, 13, Autosomal dominant;Brugada syndrome 5;Cardiac conduction defect, nonspecific;Epilepsy, generalized, with febrile seizures plus, type 1, Autosomal dominant;Epileptic encephalopathy, early infantile, 52, Autosomal recessive	0	1023	424	67	8	566	0.214286	.	.	.	142703	not_provided|not_specified|Brugada_syndrome_5	MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013015,MedGen:C2748541,OMIM:612838,Orphanet:130,Orphanet:871	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.066	0.160508226875	.	.	0.0021	0	0	0	0	0	0	0.0056	0.0003493	54	154602	rs67486287	0.0004	0.0004	0.0002	0.0005	0.0050	0.0003	0.0003	0.0046	0.0044	3.167e-05	0	0	0	0.0003	0.0012	8.535e-05	0.0003	0.0050	0.0002	0.0002	0.0003	0.0002	0.0036	0.0002	0.0001	0.0023	0.0019	7.222e-05	0	6.54e-05	0	0	0.0004	0	0.0001	0	0.0036	0.0	0.91255	D	.	.	.	0.001	0.07471	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	.	.	.	-2.5	0.89219	D	0.04	0.06488	N	0.128	0.12198	-0.6958	0.60638	T	0.422	0.76690	T	7	0.0056346953	0.00125	T	0.160508	0.84049	D	0.066	0.19193	.	.	0.838933210626	0.83739	0.21564272185818187	0.21480	0.808974901303	0.66653	0.322735607624	0.13834	T	.	.	.	-0.447311	0.01171	T	-0.414354	0.31723	T	0.0473435855948184	0.05026	T	0.30317	0.05747	T	.	.	.	.	.	.	.	.	-4.533	0.31318	T	.	.	0.140	0.30582	B	.;.	.;.	1.079695	0.14625	11.19	0.94618903739937421	0.25195	0.05869	0.11816	N	AEFDBI	.	.	.	-0.849269867299264	0.12067	0.5860141	-0.92625456353889	0.11475	0.5848372	0.617690011430573	0.21857	0.517182	0.21443	0	0.59043	0.45803	0	0.478664	0.07449	1	0.491896	0.07777	0	.	.	2.9	1.84	0.24348	0.409000	0.20803	1.480000	0.26815	0.665000	0.62972	0.004000	0.16614	0.005000	0.19230	0.005000	0.06747	0.1738:0.0:0.8262:0.0	5.129	0.14233	895	0.25842	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.05263	18813.2	37	chr19	35034040	.	G	A	18813.2	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.055;DP=1634;ExcessHet=5.3738;FS=0.53;InbreedingCoeff=-0.3103;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.17;ReadPosRankSum=-0.293;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:77,58:135:99:0|1:35034035_C_A:2193,0,3023:35034035	17	0	2	0
chr19	36104523	36104523	C	A	exonic	WDR62	.	nonsynonymous SNV	WDR62:NM_001083961:exon31:c.C4159A:p.L1387I,WDR62:NM_173636:exon31:c.C4144A:p.L1382I	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, Autosomal recessive	0	1494	28	0	0	28	0.00928382	.	.	.	169536	not_specified|not_provided|Microcephaly_2,_primary,_autosomal_recessive,_with_or_without_cortical_malformations	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011435,MedGen:C1858535,OMIM:604317,Orphanet:2512	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.043	0.0304345844044	0.0004	0.000798722	0.0010	0	0.0017	0	0	0.0008	0.0022	0.0028	0.0008991	139	154602	rs147652186	0.0005	0.0005	0.0005	0.0006	0.0069	0.0005	0.0005	0.0052	0.0046	0.0001	0.0009	0.0008	0	0	0.0069	0.0004	0.0010	0.0021	0.0005	0.0005	0.0006	0.0005	0.0019	0.0004	0.0004	0.0010	0.0007	0.0001	0	0.0003	0.0009	0.0002	0	0.0034	0.0007	0.0024	0.0019	0.554	0.06502	T	0.4	0.15010	T	0.435	0.35719	B	0.107	0.31211	B	0.008996	0.01226	N	2.611240	1	0.08975	N	1.59	0.40313	L	0.93	0.47477	T	-0.05	0.07736	N	0.136	0.16447	-1.0256	0.21886	T	0.083	0.32642	T	10	0.0052885413	0.00116	T	0.030435	0.52748	D	0.043	0.11576	.	.	0.300784259202	0.29686	0.03788552045407618	0.03734	0.531777514646	0.50659	0.334183216095	0.15565	T	8.6E-4	0.00434	T	-0.617959	0.00113	T	-0.665669	0.07889	T	0.0233234995645755	0.01062	T	0.472453	0.14032	T	0.043267965	0.06712	0.028746992	0.01140	0.039639484	0.05511	0.02602251	0.00671	-6.412	0.49618	T	.	.	0.091	0.13268	B	.;.	.;.	0.534570	0.09034	5.815	0.64237696321947724	0.07438	0.13797	0.18057	N	ALL	0.041564	0.06335	N	-0.835515986372514	0.12409	0.6047094	-0.876454074126796	0.12652	0.6521091	0.999999821045024	0.74766	0.631515	0.41029	0	0.577304	0.33150	0	0.697927	0.64325	0	0.635551	0.53088	0	.	.	4.34	2.22	0.27116	0.526000	0.22680	.	.	0.589000	0.31548	0.000000	0.06391	0.000000	0.08366	0.002000	0.04165	0.0:0.7691:0.0:0.2309	6.144	0.19493	412	0.82007	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.009063	0.005051	0.010870	0.020468	0.000000	0.000000	0.006098	0.003788	0.05263	2877.83	34	chr19	36104523	.	C	A	2877.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.14;DP=804;ExcessHet=0.119;FS=13.011;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.32;ReadPosRankSum=0.381;SOR=0.261	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:42,48:90:99:0|1:36104523_C_A:1240,0,1118:36104523	17	0	2	0
chr19	37887093	37887093	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6578C:p.I2193T,WDR87:NM_031951:exon6:c.T6461C:p.I2154T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0455139123668	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	6.853e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.178	0.22138	T	0.693	0.05882	T	0.0	0.02946	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	-0.28	0.67543	T	-0.07	0.08033	N	0.067	0.03956	-0.9885	0.32978	T	0.121	0.42208	T	9	0.0735006	0.11114	T	0.045514	0.62018	D	0.030	0.07022	0.322	0.30226	0.0551355673512	0.04727	0.019455290587693495	0.01899	.	.	0.366222500801	0.20289	T	.	.	.	-0.271564	0.11583	T	-0.627859	0.10578	T	0.0769434833446011	0.09592	T	0.353365	0.07952	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.170	0.37293	B	.;.	.;.	-1.370848	0.00382	0.007	0.78222985595802419	0.12208	0.01418	0.04786	N	AEFGBI	0.030388	0.03052	N	-1.5918959215929	0.01305	0.05684392	-1.65151224496589	0.01368	0.06179205	0.00476714215870287	0.10704	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	-4.52	0.03227	-2.190000	0.01332	.	.	-0.612000	0.04583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.3557:0.1261:0.5182:0.0	8.886	0.34564	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.2222	2917.36	105	chr19	37887093	.	A	G	2917.36	.	AC=8;AF=0.222;AN=36;BaseQRankSum=-4.617;DP=2024;ExcessHet=4.0268;FS=255.677;InbreedingCoeff=-0.2893;MLEAC=8;MLEAF=0.222;MQ=60;MQRankSum=0;QD=3.22;ReadPosRankSum=1.55;SOR=10.769	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,25:110:99:0|1:37887093_A_G:352,0,3151:37887093	10	0	8	1
chr19	37887095	37887095	C	T	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.G6576A:p.M2192I,WDR87:NM_031951:exon6:c.G6459A:p.M2153I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.009	0.0204136497208	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.091	0.31834	T	0.276	0.22016	T	0.001	0.07471	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	.	.	.	1.1	0.39050	T	-0.48	0.15379	N	0.108	0.10483	-1.0375	0.18078	T	0.044	0.18948	T	9	0.05899042	0.07022	T	0.020414	0.42999	T	0.009	0.00846	0.39	0.41279	0.0920862733494	0.08535	0.029034270678991596	0.02852	.	.	0.393157303333	0.24114	T	.	.	.	-0.264741	0.12349	T	-0.618058	0.11338	T	0.0694930752056396	0.08580	T	0.381062	0.09207	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.444	0.64238	A	.;.	.;.	0.319938	0.06943	3.492	0.38647600985457964	0.02619	0.03920	0.09307	N	AEFGBI	0.049399	0.08530	N	-1.08419287681575	0.06934	0.320632	-1.08622430549721	0.07971	0.3899139	4.11720576999195E-4	0.06899	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	0.383	0.15462	0.602000	0.23833	.	.	0.589000	0.31548	0.070000	0.22072	0.000000	0.08366	0.013000	0.09966	0.3759:0.3632:0.0:0.2609	2.678	0.04771	646	0.63441	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3214	3330.01	92	chr19	37887095	.	C	T	3330.01	.	AC=9;AF=0.321;AN=28;BaseQRankSum=-3.747;DP=1972;ExcessHet=5.3738;FS=263.164;InbreedingCoeff=-0.434;MLEAC=11;MLEAF=0.393;MQ=60;MQRankSum=0;QD=3.19;ReadPosRankSum=1.09;SOR=11.381	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,25:110:99:0|1:37887093_A_G:352,0,3151:37887093	5	0	9	5
chr19	37887096	37887096	A	G	exonic	WDR87	.	nonsynonymous SNV	WDR87:NM_001291088:exon6:c.T6575C:p.M2192T,WDR87:NM_031951:exon6:c.T6458C:p.M2153T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.034	0.0229314344301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.173e-07	2.259e-05	1.416e-06	0	9.296e-07	0	0	.	.	0	0	0	0	0	0	9.296e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.54683	D	0.639	0.06992	T	0.213	0.30041	B	0.033	0.22329	B	.	.	.	.	1	0.08975	N	.	.	.	1.06	0.39781	T	-1.37	0.33998	N	0.241	0.27197	-1.0379	0.17954	T	0.045	0.19437	T	9	0.07963219	0.12831	T	0.022931	0.45860	T	0.034	0.08419	0.354	0.35408	0.132336055621	0.12781	0.09333230472886582	0.09265	.	.	0.44281449914	0.30962	T	.	.	.	-0.187347	0.22650	T	-0.506887	0.21634	T	0.185715109109879	0.19588	T	0.310469	0.06031	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.507	0.66846	A	.;.	.;.	1.675669	0.21359	15.17	0.2656475844503623	0.01278	0.05870	0.11817	N	AEFGBI	0.068161	0.13433	N	-0.937720259489842	0.09970	0.4742779	-0.936529822273914	0.11236	0.5712116	0.00186976402927546	0.08957	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.530356	0.10902	0	.	.	4.6	2.35	0.28166	3.208000	0.50816	.	.	0.743000	0.86499	0.302000	0.25342	0.056000	0.21938	0.017000	0.10941	0.637:0.1851:0.0:0.1778	5.276	0.14959	646	0.63441	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	4138.4	92	chr19	37887096	.	A	G	4138.4	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-3.922;DP=2038;ExcessHet=8.9063;FS=263.024;InbreedingCoeff=-0.515;MLEAC=13;MLEAF=0.433;MQ=60;MQRankSum=0;QD=3.31;ReadPosRankSum=1.27;SOR=11.427	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:85,24:109:99:0|1:37887093_A_G:345,0,3153:37887093	4	0	11	4
chr19	39883323	39883323	G	C	exonic	FCGBP	.	nonsynonymous SNV	FCGBP:NM_003890:exon19:c.C8512G:p.L2838V	.	430	1091	1	0	0	1	0.000458085	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.00158768810809	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.535e-06	7.53e-06	5.045e-06	1.213e-05	0.0007	4.32e-06	3.15e-06	0.0002	9.856e-05	0	0	0	0	0	0.0007	6.442e-06	2.362e-05	0	0	1.99e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	3799.33	69	chr19	39883323	.	G	C	3799.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.049;DP=1995;ExcessHet=0;FS=0.571;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=37.81;MQRankSum=-4.895;QD=6.56;ReadPosRankSum=1.14;SOR=0.762	GT:AD:DP:GQ:PL	0/1:383,196:579:99:3813,0,11189	18	0	1	0
chr19	40667990	40667993	CTGT	0	exonic	NUMBL	.	.	.	.	0	27	2	1	196	200	0.0689655	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6316	853.21	33	chr19	40667990	.	CTGT	*	853.21	.	AC=24;AF=0.632;AN=38;DP=856;ExcessHet=5.6906;FS=0.635;InbreedingCoeff=-0.2859;MLEAC=24;MLEAF=0.632;MQ=60;QD=1.1;SOR=0.605	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:40667975_C_T:1865,129,0:40667975	1	6	12	0
chr19	40667993	40668002	TTGCTGTTGC	0	exonic	NUMBL	.	.	.	.	438	226	37	0	821	858	0.0756646	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6579	78.42	33	chr19	40667993	.	TTGCTGTTGC	*	78.42	.	AC=25;AF=0.658;AN=38;BaseQRankSum=-1.002;DP=861;ExcessHet=1.8686;FS=0.664;InbreedingCoeff=-0.0857;MLEAC=25;MLEAF=0.658;MQ=60;MQRankSum=0;QD=0.1;ReadPosRankSum=0.057;SOR=0.589	GT:AD:DP:GQ:PGT:PID:PL:PS	1|1:0,43:43:99:1|1:40667975_C_T:1865,129,0:40667975	1	7	11	0
chr19	40744680	40744680	G	A	exonic	C19orf54	.	nonsynonymous SNV	C19orf54:NM_001353805:exon4:c.C4T:p.R2W	.	420	1058	41	3	0	47	0.0217291	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.207	.	0.0037	0.00738818	0.0084	0.0005	0.0028	0.0001	0.0028	0.0053	0.0074	0.0413	0.0071603	1107	154602	rs73047039	0.0057	0.0057	0.0046	0.0067	0.0342	0.0056	0.0055	0.0332	0.0328	0.0005	0.0019	0.0123	5.043e-05	0.0021	0.0157	0.0039	0.0061	0.0342	0.0038	0.0038	0.0036	0.0039	0.0325	0.0035	0.0034	0.0284	0.0268	0.0007	0	0.0020	0.0121	0.0002	0.0029	0.0204	0.0040	0.0033	0.0325	.	.	.	0.0	0.92824	D	.	.	.	.	.	.	.	.	.	.	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.32	0.36043	-0.9902	0.32551	T	0.090	0.34573	T	7	0.004359305	0.00089	T	.	.	.	.	.	.	.	0.0611884634855	0.05136	.	.	.	.	.	.	.	.	.	.	-0.685291	0.00045	T	-0.731387	0.04265	T	0.0130569372381809	0.00228	T	0.636336	0.25008	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.136	0.29697	B	.	.	0.138148	0.05325	1.814	0.994728603804239	0.66419	0.01489	0.04946	N	ALL	0.047537	0.08015	N	-1.28611122526482	0.03842	0.1723511	-1.39020398705293	0.03355	0.1563541	0.999999999997689	0.74766	0.839682	0.99964	0	0.643519	0.57511	0	0.736553	0.94036	0	0.699908	0.69081	0	.	.	5.56	-9.34	0.00539	-1.494000	0.02401	.	.	-0.263000	0.06870	0.000000	0.06391	0.000000	0.08366	0.343000	0.25501	0.8088:0.0:0.1912:0.0	19.119	0.93338	493	0.76500	.	.	.	.	.	.	Likely benign	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	0.019737	0.015152	0.013587	0.017857	0.000000	0.008621	0.009202	0.049242	0.02632	480.33	34	chr19	40744680	.	G	A	480.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.503;DP=661;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.72;ReadPosRankSum=1.86;SOR=0.555	GT:AD:DP:GQ:PL	0/1:19,22:41:99:494,0,509	18	0	1	0
chr19	40800650	40800650	G	C	exonic	EGLN2	.	nonsynonymous SNV	EGLN2:NM_053046:exon2:c.G78C:p.E26D,EGLN2:NM_080732:exon2:c.G78C:p.E26D	.	417	1085	20	0	0	20	0.00913242	.	.	.	741905	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.025	.	0.0006	0.00399361	0.0028	9.917e-05	0.0004	0.0001	0.0002	0.0008	0.0047	0.0163	0.0024515	379	154602	rs73047080	0.0014	0.0014	0.0010	0.0019	0.0152	0.0014	0.0014	0.0145	0.0142	0.0001	0.0002	0.0043	0	7.512e-05	0.0069	0.0005	0.0017	0.0152	0.0009	0.0009	0.0009	0.0009	0.0147	0.0008	0.0007	0.0120	0.0110	0.0001	0	0.0003	0.0020	0	0	0.0136	0.0006	0.0014	0.0147	0.0	0.91255	D	0.0	0.92824	D	.	.	.	.	.	.	0.005365	0.32858	N	0.200262	0.990905	0.24109	N	0.55	0.14455	N	1.94	0.22678	T	-0.13	0.08971	N	0.129	0.12341	-1.0206	0.23519	T	0.026	0.11264	T	7	0.003999889	0.00077	T	.	.	.	0.025	0.05312	0.117	0.02508	0.456647468687	0.45291	0.11087046075374986	0.11016	0.508924225675	0.49035	0.592218577862	0.51808	T	0.261926	0.63345	T	-0.550966	0.00288	T	-0.551227	0.17209	T	0.0171338292415777	0.00458	T	0.469553	0.13966	T	0.10713312	0.25332	0.10244342	0.24554	0.10713312	0.25331	0.10244342	0.24554	-4.025	0.24177	T	.	.	0.116	0.26762	B	.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.	2.216571	0.28284	17.75	0.97879448873417629	0.36594	0.20637	0.21114	N	AEFDBCI	0.101483	0.20381	N	-0.605174886077519	0.18788	0.97824	-0.699690217910423	0.16968	0.9001154	0.999998765061	0.74766	0.627647	0.40530	0	0.672317	0.65289	0	0.685571	0.62057	0	0.657601	0.63696	0	.	.	0.046	0.046	0.13572	0.171000	0.16497	.	.	0.171000	0.17763	0.368000	0.25908	0.999000	0.35428	0.907000	0.44265	.	.	.	507	0.75469	.;.;.;.;.;.;.;.;.;.	.	.	.	.	.	Likely benign	0	0	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	0.005539	0.000000	0.004076	0.000000	0.000000	0.008621	0.003049	0.007576	0.02632	665.33	33	chr19	40800650	.	G	C	665.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.01;DP=698;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.87;ReadPosRankSum=-0.384;SOR=0.588	GT:AD:DP:GQ:PL	0/1:45,30:75:99:679,0,1258	18	0	1	0
chr19	41124737	41124737	T	A	exonic	CYP2F1	.	nonsynonymous SNV	CYP2F1:NM_000774:exon8:c.T983A:p.I328N	.	418	1096	8	0	0	8	0.00363636	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.625	0.131521775098	7.7e-05	.	0.0008	0	0.0003	0	0	0.0003	0.0027	0.0040	0.0005369	83	154602	rs372824170	0.0005	0.0005	0.0003	0.0006	0.0050	0.0004	0.0004	0.0046	0.0045	5.98e-05	8.969e-05	0	7.565e-05	0	0.0026	0.0002	0.0003	0.0050	0.0002	0.0002	0.0001	0.0003	0.0046	0.0002	0.0001	0.0031	0.0026	0	0	0.0001	0	0	0	0	0.0001	0	0.0046	0.0	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	0.991	0.79672	D	0.000014	0.62929	U	0.064580	0.998183	0.44603	D	3.545	0.93219	H	-0.81	0.73949	T	-6.41	0.91226	D	0.883	0.88137	0.450	0.89836	D	0.670	0.88579	D	10	0.18624687	0.34081	T	0.131522	0.81378	D	0.625	0.85511	.	.	0.911612100983	0.91072	0.8242532732302961	0.82383	1.43972300734	0.85949	0.700266003609	0.67181	T	0.121749	0.44492	T	-0.226669	0.17092	T	-0.0981039	0.63543	T	0.290959605107801	0.24629	T	0.911809	0.68723	D	0.97551733	0.98750	0.92435706	0.96703	0.97551733	0.98750	0.92435706	0.96704	-12.563	0.87485	D	.	.	0.796	0.77098	P	.	.	3.772468	0.54193	23.5	0.81645528404771683	0.13789	0.94309	0.60756	D	AEFDBHI	0.383504	0.46499	N	0.514445937641141	0.67943	5.149642	0.304720625583079	0.55816	3.744488	0.987211036396077	0.31212	0.517182	0.21443	0	0.547309	0.14657	0	0.478664	0.07449	1	0.613276	0.41899	0	.	.	3.13	3.13	0.35090	4.830000	0.62434	1.355000	0.25837	0.310000	0.19122	1.000000	0.71638	0.957000	0.29195	0.233000	0.22815	0.0:0.0:0.0:1.0	9.453	0.37903	711	0.56613	.	.	.	.	.	.	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	0.001515	0.005102	0.000000	0.002924	0.000000	0.008621	0.000000	0.003788	0.02632	1447.33	35	chr19	41124737	.	T	A	1447.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.55;DP=808;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.27;ReadPosRankSum=-0.186;SOR=0.634	GT:AD:DP:GQ:PL	0/1:60,58:118:99:1461,0,1410	18	0	1	0
chr19	41579527	41579527	C	T	exonic	CEACAM21	.	nonsynonymous SNV	CEACAM21:NM_001098506:exon3:c.C599T:p.T200I,CEACAM21:NM_001290113:exon3:c.C215T:p.T72I,CEACAM21:NM_033543:exon3:c.C599T:p.T200I,CEACAM21:NM_001288773:exon4:c.C215T:p.T72I	.	425	1086	11	0	0	11	0.00503894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.035	0.00154109281056	0.0014	0.000599042	0.0012	0	0.0005	0	0	0.0019	0.0026	0.0009	0.0009573	148	154602	rs139036367	0.0009	0.0009	0.0008	0.0009	0.0043	0.0008	0.0008	0.0030	0.0026	0.0001	0.0005	0.0017	0	1.873e-05	0.0043	0.0009	0.0014	0.0008	0.0008	0.0008	0.0009	0.0007	0.0014	0.0007	0.0007	0.0012	0.0011	0.0002	0	0.0008	0.0006	0	9.42e-05	0	0.0014	0.0019	0.0004	0.053	0.38863	T	0.291	0.28482	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.77	0.11407	T	-4.72	0.79998	D	0.09	0.06990	-1.0516	0.13954	T	0.039	0.16978	T	9	0.015399635	0.00323	T	0.001541	0.02420	T	0.035	0.08770	.	.	0.0482279557977	0.04254	0.3101955809135996	0.30932	0.13162313656	0.14841	.	.	.	.	.	.	-0.569624	0.00222	T	-0.615629	0.11532	T	0.136128589510918	0.15938	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.293	0.52385	B	.;.;.	.;.;.	0.156737	0.05477	1.946	0.98514453608873587	0.42386	0.00329	0.01719	N	AEFBI	0.026900	0.02103	N	-0.824227230968977	0.12692	0.6203225	-1.10763120710169	0.07553	0.3678649	4.07064757860546E-4	0.06860	0.651	0.46895	0	0.708844	0.79440	0	0.618467	0.43123	0	0.586402	0.36253	0	.	.	3.34	-3.53	0.04369	-0.306000	0.08217	-10.165000	0.00732	-1.699000	0.00759	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1495:0.3703:0.3662:0.114	2.908	0.05377	849	0.35778	Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype;.;Immunoglobulin-like domain|Immunoglobulin-like domain|Immunoglobulin subtype 2|Immunoglobulin subtype	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.004028	0.000000	0.008152	0.000000	0.000000	0.008621	0.003049	0.003788	0.02632	1889.33	34	chr19	41579527	.	C	T	1889.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.76;DP=855;ExcessHet=0;FS=2.66;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.67;ReadPosRankSum=-1.871;SOR=0.599	GT:AD:DP:GQ:PL	0/1:103,74:177:99:1903,0,2705	18	0	1	0
chr19	41879134	41879134	C	T	exonic	CD79A	.	nonsynonymous SNV	CD79A:NM_001783:exon2:c.C224T:p.T75M,CD79A:NM_021601:exon2:c.C224T:p.T75M	Agammaglobulinemia 3, Autosomal recessive	1	1515	6	0	0	6	0.00197628	.	.	.	847733	Agammaglobulinemia_3,_autosomal_recessive	MONDO:MONDO:0013288,MedGen:C3150751,OMIM:613501	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.111	0.0507784510644	7.7e-05	0.000199681	0.0002	0	0.0003	0	0	0.0002	0	0.0007	0.0002199	34	154602	rs199967393	0.0002	0.0002	0.0002	0.0003	0.0010	0.0002	0.0002	0.0008	0.0007	8.961e-05	0.0004	0	0	0	0.0003	0.0002	6.623e-05	0.0010	0.0001	0.0001	7.709e-05	0.0002	0.0008	7.571e-05	6.277e-05	0.0003	0.0002	2.406e-05	0	0.0002	0	0	0	0	0.0001	0.0009	0.0008	0.001	0.78490	D	0.002	0.79402	D	1.0	0.90584	D	0.978	0.74104	D	0.198799	0.03304	N	1.611670	1	0.08975	N	2.545	0.74286	M	-0.27	0.83495	T	-1.94	0.45042	N	0.339	0.40063	-0.8176	0.54084	T	0.437	0.77683	T	10	0.040852368	0.02689	T	0.050778	0.64384	D	0.111	0.31313	.	.	0.695827863048	0.69320	0.5087870767544855	0.50800	1.22473152856	0.81168	0.322327494621	0.13773	T	0.454426	0.79398	T	-0.332204	0.05946	T	-0.310563	0.43597	T	0.107463891613838	0.13158	T	0.640436	0.25296	T	0.06258773	0.13090	0.103222735	0.24760	0.06258773	0.13089	0.103222735	0.24760	-7.286	0.56096	T	0.3400259700653841	0.43779	0.321	0.71599	B	.;.;.	.;.;.	2.479153	0.31965	18.90	0.99681018314477998	0.79241	0.06781	0.12804	N	AEFBCI	0.068911	0.13615	N	-0.286790142631961	0.29656	1.646629	-0.486532305239655	0.22524	1.223806	0.999917608058765	0.45857	0.542737	0.22433	0	0.685571	0.66316	0	0.48864	0.07692	0	0.567892	0.33627	0	.	.	5.06	2.94	0.33188	0.045000	0.13898	0.703000	0.20862	-0.202000	0.08738	0.000000	0.06391	0.000000	0.08366	0.010000	0.09038	0.0:0.8112:0.0:0.1888	7.713	0.27853	739	0.53257	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	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	6104.83	33	chr19	41879134	.	C	T	6104.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.21;DP=1097;ExcessHet=0.119;FS=1.094;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.51;ReadPosRankSum=-0.446;SOR=0.794	GT:AD:DP:GQ:PL	0/1:104,128:232:99:3111,0,2249	17	0	2	0
chr19	43991910	43991910	G	A	exonic	ZNF155	.	nonsynonymous SNV	ZNF155:NM_001260486:exon4:c.G211A:p.A71T,ZNF155:NM_001260487:exon4:c.G211A:p.A71T,ZNF155:NM_003445:exon4:c.G211A:p.A71T,ZNF155:NM_198089:exon4:c.G211A:p.A71T,ZNF155:NM_001260488:exon5:c.G244A:p.A82T	.	433	1083	6	0	0	6	0.00276243	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.000617934799173	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.052e-06	2.736e-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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.24	0.18122	T	0.537	0.11691	T	0.044	0.21686	B	0.027	0.21085	B	.	.	.	.	1	0.08975	N	0.675	0.16386	N	5.32	0.05188	T	-1.58	0.38151	N	0.166	0.17966	-0.9628	0.38645	T	0.015	0.06090	T	9	0.075161904	0.11581	T	6.18E-4	0.00303	T	0.030	0.07022	0.293	0.25560	0.112648838833	0.10856	0.01597857260087992	0.01553	0.0365107702582	0.03864	0.225918754935	0.01680	T	0.004198	0.03611	T	-0.37331	0.03430	T	-0.77401	0.02639	T	0.0426595354315809	0.04176	T	0.205679	0.02659	T	0.034619763	0.03919	0.063095294	0.12448	0.034619763	0.03918	0.063095294	0.12447	-6.006	0.46330	T	.	.	0.072	0.12132	B	.;.;.;.;.;.;.	.;.;.;.;.;.;.	0.471152	0.08407	5.163	0.76172498514546483	0.11361	0.06059	0.12030	N	AEFBCI	0.024760	0.01583	N	-0.944018625919644	0.09827	0.4668567	-1.03455082915869	0.09031	0.4471178	0.00624437824222985	0.11166	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.64	1.64	0.22949	-0.118000	0.10665	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.282000	0.24066	0.0:0.0:1.0:0.0	6.716	0.22492	630	0.65016	Krueppel-associated box;Krueppel-associated box;Krueppel-associated box;.;Krueppel-associated box;Krueppel-associated box;Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	10174.8	34	chr19	43991910	.	G	A	10174.8	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.317;DP=4461;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=12.13;ReadPosRankSum=1;SOR=0.719	GT:AD:DP:GQ:PL	0/1:209,198:407:99:4974,0,5362	17	0	2	0
chr19	44011364	44011364	A	G	exonic	ZNF230	.	nonsynonymous SNV	ZNF230:NM_006300:exon5:c.A1325G:p.H442R	.	440	1076	5	1	0	7	0.00324224	.	.	.	4106534	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.159	0.00157214353116	.	.	1.66e-05	0	0	0	0	1.509e-05	0	6.063e-05	1.29e-05	2	154602	rs770936756	1.642e-05	1.642e-05	1.497e-05	1.788e-05	0.0002	1.111e-05	9.33e-06	1.175e-05	9.55e-06	0	2.236e-05	0	0	0	0.0002	1.799e-05	1.656e-05	1.16e-05	6.568e-06	6.566e-06	0	1.345e-05	6.541e-05	0	0	.	.	0	0	6.541e-05	0	0	0	0	0	0	0	0.013	0.53900	D	0.002	0.79402	D	0.001	0.07471	B	0.003	0.08700	B	.	.	.	.	0.999993	0.08975	N	4.07	0.97156	H	1.59	0.28836	T	-6.79	0.92863	D	0.17	0.18103	-0.9134	0.46428	T	0.141	0.46072	T	9	0.1297327	0.24687	T	0.001572	0.02497	T	0.159	0.41286	0.466	0.53729	0.259272394797	0.25527	0.03290536355076539	0.03238	0.154306874137	0.17424	0.348929315805	0.17765	T	0.151736	0.49181	T	-0.2546	0.13539	T	-0.506637	0.21661	T	0.177938048459163	0.19104	T	0.39556	0.09932	T	0.16275512	0.36372	0.19567868	0.43258	0.16275512	0.36372	0.19567868	0.43257	-6.062	0.46795	T	.	.	0.076	0.05890	B	.	.	0.444720	0.08149	4.881	0.66919653141000479	0.08200	0.00113	0.00716	N	AEFBCI	0.055869	0.10283	N	-0.809553060770685	0.13065	0.6410902	-0.957673118239309	0.10746	0.5431695	0.0115593246302031	0.12202	0.554377	0.28877	0	0.546412	0.12157	0	0.602189	0.34648	0	0.491896	0.07777	0	.	.	2.55	1.5	0.22029	0.884000	0.27851	.	.	-0.589000	0.04658	0.000000	0.06391	0.005000	0.19230	0.004000	0.06068	0.8735:0.0:0.1265:0.0	6.790	0.22882	599	0.68140	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	.	.	.	.	.	.	.	.	0.05263	2891.83	33	chr19	44011364	.	A	G	2891.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.23;DP=842;ExcessHet=0.119;FS=1.063;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.03;ReadPosRankSum=-0.192;SOR=0.798	GT:AD:DP:GQ:PL	0/1:56,56:112:99:1321,0,1533	17	0	2	0
chr19	44387371	44387371	C	T	exonic	ZNF285	.	nonsynonymous SNV	ZNF285:NM_001291491:exon3:c.G409A:p.E137K,ZNF285:NM_001291489:exon4:c.G874A:p.E292K,ZNF285:NM_152354:exon4:c.G874A:p.E292K,ZNF285:NM_001291488:exon5:c.G895A:p.E299K,ZNF285:NM_001291490:exon5:c.G409A:p.E137K	.	428	1088	5	1	0	7	0.0032066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.031	0.00151343146227	.	0.000199681	8.363e-06	0	0	0	0	0	0	6.056e-05	1.29e-05	2	154602	rs531028922	6.156e-06	6.156e-06	4.084e-06	8.25e-06	5.038e-05	2.9e-06	2.1e-06	8.35e-06	3.12e-06	2.987e-05	2.236e-05	0	5.038e-05	0	0	0	4.967e-05	2.319e-05	1.314e-05	1.313e-05	1.285e-05	1.344e-05	0.0002	2.18e-06	8.2e-07	.	.	0	0	6.54e-05	0	0	0	0	0	0	0.0002	.	.	.	0.152	0.33666	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.3	0.06368	T	.	.	.	0.123	0.17140	-0.9186	0.45743	T	0.016	0.06329	T	9	0.07002258	0.10129	T	0.001513	0.02343	T	0.031	0.07369	0.445	0.50302	0.0716867268079	0.06686	0.03171292967658753	0.03120	.	.	.	.	.	.	.	.	-0.32392	0.06581	T	-0.703065	0.05660	T	0.0328854026497822	0.02452	T	0.19978	0.02250	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.12228	B	.;.;.	.;.;.	0.500049	0.08693	5.464	0.92571330580662348	0.22026	0.03944	0.09342	N	AEFDGBI	0.056138	0.10355	N	-1.32528951473618	0.03388	0.1512664	-1.48550365619622	0.02462	0.1133123	0.00145570027841714	0.08551	0.638212	0.43195	0	0.573888	0.26702	0	0.653264	0.51672	0	0.635551	0.53088	0	.	.	3.37	-5.86	0.02114	-0.490000	0.06562	.	.	-1.436000	0.01109	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1203:0.4325:0.1187:0.3285	2.334	0.03984	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	3499.83	34	chr19	44387371	.	C	T	3499.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=3.81;DP=1231;ExcessHet=0.119;FS=2.74;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=55.21;MQRankSum=-1.496;QD=13.72;ReadPosRankSum=1.68;SOR=0.544	GT:AD:DP:GQ:PL	0/1:79,60:139:99:1586,0,1871	17	0	2	0
chr19	45382684	45382684	T	C	exonic	PPP1R13L	.	nonsynonymous SNV	PPP1R13L:NM_001142502:exon12:c.A2291G:p.Y764C,PPP1R13L:NM_006663:exon12:c.A2291G:p.Y764C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.350	0.0689361778245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.01	0.56456	D	0.019	0.59159	D	1.0	0.90584	D	0.998	0.88582	D	0.000000	0.84330	D	0.000000	1	0.81001	D	1.515	0.38264	L	2.28	0.17271	T	-7.59	0.95305	D	0.71	0.71321	-0.8722	0.50364	T	0.135	0.44875	T	10	0.80727684	0.80052	D	0.068936	0.70589	D	0.350	0.67142	0.503	0.59615	0.776606504809	0.77455	0.9295045597685343	0.92928	1.40683877804	0.85340	0.846387863159	0.89069	D	0.590991	0.86750	D	0.0350024	0.56388	T	-0.187498	0.55824	T	0.995670318603516	0.87860	D	0.965903	0.87416	D	0.7791217	0.82600	0.34239444	0.59966	0.7791217	0.82602	0.34239444	0.59965	-9.101	0.68343	D	.	.	0.636	0.70369	P	.;.	.;.	4.257522	0.64674	24.7	0.99383757703993891	0.62024	0.93944	0.59646	D	AEFDGBI	0.829285	0.74822	D	0.686138829603942	0.78724	6.929626	0.603662364291024	0.75206	6.269628	0.999742987359126	0.42466	0.706548	0.73137	0	0.693144	0.66847	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.61	4.61	0.56724	4.866000	0.62702	4.114000	0.41935	0.601000	0.45875	1.000000	0.71638	1.000000	0.68203	0.969000	0.54022	0.0:0.0:0.0:1.0	11.970	0.52347	845	0.36510	SH3 domain|SH3 domain|SH3 domain;SH3 domain|SH3 domain|SH3 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	.	.	.	.	.	.	.	.	0.02632	2084.33	39	chr19	45382684	.	T	C	2084.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.664;DP=822;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.91;ReadPosRankSum=-1.355;SOR=0.674	GT:AD:DP:GQ:PL	0/1:98,93:191:99:2098,0,2181	18	0	1	0
chr19	46347140	46347140	C	G	exonic	PPP5C	.	nonsynonymous SNV	PPP5C:NM_001204284:exon1:c.C44G:p.P15R,PPP5C:NM_006247:exon1:c.C44G:p.P15R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.057	0.0246934212874	.	.	1.529e-05	0	0	0	0	0	0	8.996e-05	6.5e-06	1	154602	rs781518780	1.101e-05	1.094e-05	1.094e-05	1.108e-05	2.359e-05	6.52e-06	5.28e-06	5.77e-06	4.56e-06	0	0	0	0	0	0	1.083e-05	3.334e-05	2.359e-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	0	0	0	1.47e-05	0	0	0.058	0.37750	T	0.319	0.19188	T	0.026	0.19406	B	0.002	0.06944	B	0.795638	0.09363	U	0.866069	0.582391	0.81001	D	1.355	0.33814	L	3.56	0.04696	T	-0.65	0.18877	N	0.204	0.22614	-0.9343	0.43500	T	0.009	0.03315	T	10	0.1773321	0.32763	T	0.024693	0.47677	T	0.057	0.16321	0.278	0.23164	0.23798241625	0.23396	0.36878477754257155	0.36792	0.734854661864	0.62927	0.665435135365	0.62186	T	0.366627	0.73184	T	-0.250303	0.14059	T	-0.492034	0.23177	T	0.210142329335213	0.20961	T	0.556144	0.19298	T	0.07823419	0.17803	0.12434414	0.29972	0.07823419	0.17803	0.12434414	0.29971	-3.982	0.23533	T	.	.	0.071	0.03698	B	.	.	3.480694	0.48608	22.6	0.933825776721809	0.23133	0.87741	0.47384	D	AEFGBHCIJ	0.313501	0.41863	N	-0.633145689422323	0.17954	0.9283253	-0.489261716367701	0.22449	1.219351	0.999999999695259	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.52208	0.10781	0	0.56214	0.19341	0	.	.	3.3	2.25	0.27340	1.340000	0.33501	5.902000	0.50901	-0.177000	0.10537	0.997000	0.40164	1.000000	0.68203	0.712000	0.34516	0.0:0.7999:0.2001:0.0	10.489	0.43928	471	0.78036	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	668.33	33	chr19	46347140	.	C	G	668.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.647;DP=728;ExcessHet=0;FS=0.859;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.15;ReadPosRankSum=0.31;SOR=0.582	GT:AD:DP:GQ:PL	0/1:53,29:82:99:682,0,1348	18	0	1	0
chr19	47781161	47781161	G	A	exonic	SELENOW	.	unknown	UNKNOWN	.	421	1097	3	1	0	5	0.00227376	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0057	0.00199681	0.0038	0.0004	0.0045	0	0.0041	0.0054	0.0067	0.0005	0.0039844	616	154602	rs191827128	0.0062	0.0062	0.0063	0.0061	0.0072	0.0061	0.0060	0.0071	0.0070	0.0010	0.0043	0.0054	0	0.0029	0.0055	0.0072	0.0061	0.0007	0.0046	0.0046	0.0046	0.0046	0.0067	0.0043	0.0042	0.0062	0.0060	0.0015	0.0252	0.0053	0.0058	0	0.0030	0	0.0067	0.0085	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003525	0.010101	0.004076	0.005848	0.000000	0.008621	0.000000	0.000000	0.02632	2955.33	44	chr19	47781161	.	G	A	2955.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.88;DP=953;ExcessHet=0;FS=2.983;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.25;ReadPosRankSum=1.44;SOR=0.892	GT:AD:DP:GQ:PL	0/1:108,115:223:99:2969,0,2541	18	0	1	0
chr19	47801819	47801819	C	T	exonic	TPRX1	.	nonsynonymous SNV	TPRX1:NM_198479:exon2:c.G1192A:p.V398M	.	150	1353	17	2	0	21	0.00770077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.232	.	7.7e-05	0.00199681	0.0013	0	0.0003	0.0001	0	0.0002	0	0.0085	0.0011319	175	154602	rs200596763	0.0006	0.0006	0.0005	0.0008	0.0080	0.0006	0.0006	0.0075	0.0073	2.987e-05	0.0002	0.0014	0	0	0.0035	0.0001	0.0008	0.0080	0.0004	0.0004	0.0002	0.0005	0.0077	0.0003	0.0003	0.0057	0.0050	0	0.0011	0.0003	0.0012	0	0	0.0068	0.0001	0.0005	0.0077	0.0	0.91255	D	0.0	0.92824	D	0.982	0.60036	D	0.651	0.52497	P	.	.	.	.	1	0.08975	N	0.55	0.14455	N	-2.13	0.93787	D	-0.73	0.22944	N	0.152	0.27554	-0.1956	0.77785	T	0.606	0.86026	D	9	0.0067352355	0.00153	T	.	.	.	0.232	0.53354	.	.	0.438383285633	0.43460	0.23392375633718906	0.23307	0.356072466805	0.37361	0.353152483702	0.18385	T	0.010224	0.09867	T	-0.409433	0.02005	T	-0.355631	0.38558	T	0.0942091338508487	0.11708	T	0.551245	0.19298	T	0.0836681	0.19330	0.09419711	0.22286	0.0836681	0.19329	0.09419711	0.22286	-2.25	0.04290	T	.	.	0.115	0.32445	B	.;.;.	.;.;.	1.534584	0.19684	14.39	0.9906700246732445	0.51621	0.01377	0.04694	N	AEFI	0.030052	0.02951	N	-0.598586907107626	0.18987	0.9902548	-0.800681159278093	0.14479	0.7567325	1.94653767318945E-4	0.05898	0.487112	0.14033	0	0.573888	0.26702	0	0.547309	0.15389	0	0.613276	0.41899	0	.	.	1.17	1.17	0.19998	0.305000	0.19006	-0.102000	0.11930	0.328000	0.19510	0.016000	0.19238	0.001000	0.17328	0.066000	0.16387	0.0:1.0:0.0:0.0	5.719	0.17248	912	0.21483	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.006098	0.003788	0.02632	1268.33	33	chr19	47801819	.	C	T	1268.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.845;DP=716;ExcessHet=0;FS=4.343;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.92;ReadPosRankSum=0.703;SOR=1.189	GT:AD:DP:GQ:PL	0/1:38,47:85:99:1282,0,916	18	0	1	0
chr19	49016232	49016232	G	A	exonic	LHB	.	nonsynonymous SNV	LHB:NM_000894:exon3:c.C262T:p.R88W	Hypogonadotropic hypogonadism 23 with or without anosmia, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	742047	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.320	0.210042278878	.	0.000199681	0.0004	0	0	0.0055	0	3.022e-05	0	0.0001	0.0003493	54	154602	rs146251380	0.0002	0.0002	0.0001	0.0002	0.0031	0.0001	0.0001	0.0027	0.0025	2.991e-05	4.473e-05	0	0.0031	0	0.0002	7.735e-05	0.0001	0.0001	0.0002	0.0002	7.708e-05	0.0003	0.0052	0.0002	0.0001	0.0037	0.0032	0	0	6.533e-05	0	0.0052	0	0	2.941e-05	0.0005	0.0002	0.011	0.55530	D	0.001	0.83351	D	0.057	0.22878	B	0.009	0.14300	B	0.519948	0.11753	N	0.779549	0.999927	0.19486	N	2.53	0.73802	M	-2.83	0.91249	D	-4.98	0.82141	D	0.258	0.29197	0.147	0.85013	D	0.738	0.91047	D	10	0.023076266	0.00593	T	0.210042	0.87231	D	0.320	0.64215	.	.	0.881783468173	0.88062	0.41287213845133647	0.41203	0.0857855291812	0.09691	0.327191144228	0.14510	T	0.861376	0.96927	D	-0.263277	0.12520	T	-0.146671	0.59538	T	0.0922612855067189	0.11483	T	0.753825	0.37593	T	0.57365566	0.71260	0.5022225	0.71225	0.57365566	0.71261	0.5022225	0.71225	-8.637	0.65333	D	0.3886237931904241	0.48209	0.115	0.23113	B	.;.	.;.	3.316552	0.45594	22.2	0.99232848846849642	0.56278	0.30691	0.24147	N	AEFDGBHCI	0.234674	0.35739	N	-0.476291694801702	0.22859	1.223562	-0.505411360364221	0.22006	1.193167	0.990738750700466	0.32251	0.413467	0.06321	2	0.573116	0.20632	0	0.486962	0.07600	0	0.714379	0.83352	0	.	.	4.71	3.67	0.41236	1.608000	0.36458	8.320000	0.76961	-0.103000	0.15852	0.169000	0.23921	1.000000	0.68203	0.031000	0.13245	0.1007:0.0:0.8993:0.0	9.438	0.37814	744	0.52588	Glycoprotein hormone subunit beta;Glycoprotein hormone subunit beta	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	1236.33	36	chr19	49016232	.	G	A	1236.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.28;DP=769;ExcessHet=0;FS=6.779;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.18;ReadPosRankSum=0.821;SOR=0.238	GT:AD:DP:GQ:PL	0/1:26,42:68:99:1250,0,639	18	0	1	0
chr19	51337343	51337343	C	T	exonic	VSIG10L	.	nonsynonymous SNV	VSIG10L:NM_001163922:exon7:c.G2200A:p.V734M	.	418	1099	5	0	0	5	0.00226963	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.045	0.0535984615257	0.0015	0.000599042	0.0016	0	0	0	0	0.0023	0	0.0015	0.0005175	80	154602	rs201902240	0.0017	0.0017	0.0017	0.0018	0.0042	0.0017	0.0016	0.0029	0.0025	0.0003	0.0004	0.0056	0.0001	0.0005	0.0042	0.0018	0.0014	0.0018	0.0014	0.0014	0.0015	0.0013	0.0023	0.0012	0.0012	0.0020	0.0018	0.0005	0	0.0002	0.0060	0.0004	0.0003	0.0034	0.0023	0.0009	0.0017	0.017	0.51248	D	0.012	0.63918	D	0.997	0.70673	D	0.791	0.57754	P	0.030603	0.25284	N	0.194660	0.978791	0.25225	N	2.135	0.59519	M	1.96	0.22270	T	-1.02	0.26843	N	0.291	0.32921	-1.0771	0.07922	T	0.079	0.31526	T	10	0.009048849	0.00205	T	0.053598	0.65530	D	0.045	0.12272	.	.	0.0611884634855	0.05136	0.49199537965268514	0.49120	.	.	0.540010452271	0.44446	T	0.014558	0.12369	T	-0.497674	0.00589	T	-0.494127	0.22959	T	0.0125632632847029	0.00209	T	0.715628	0.32820	T	0.05394844	0.10284	0.068334304	0.14257	0.05394844	0.10283	0.068334304	0.14257	-5.951	0.45867	T	.	.	0.237	0.47061	B	.	.	3.065167	0.41183	21.3	0.99814673526703024	0.89797	0.47945	0.28096	N	AEFDBI	0.099837	0.20088	N	0.121476361095564	0.47466	2.971915	0.0178535972260213	0.40544	2.421361	0.982761246064069	0.30451	0.706298	0.61202	0	0.588066	0.40923	0	0.709663	0.75317	0	0.567892	0.33627	0	.	.	4.76	3.72	0.41857	1.489000	0.35170	.	.	0.596000	0.33519	0.855000	0.30528	0.994000	0.32194	0.074000	0.16894	0.0:0.8834:0.0:0.1166	8.126	0.30161	975	0.05339	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.003623	0.000000	0.000000	0.003906	0.000000	0.000000	0.004762	0.000000	0.02632	1704.33	34	chr19	51337343	.	C	T	1704.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.75;DP=746;ExcessHet=0;FS=1.509;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.69;ReadPosRankSum=-0.428;SOR=0.906	GT:AD:DP:GQ:PL	0/1:57,59:116:99:1718,0,1491	18	0	1	0
chr19	52115218	52115218	C	T	exonic	ZNF616	.	nonsynonymous SNV	ZNF616:NM_178523:exon4:c.G1946A:p.R649K	.	409	1081	30	2	0	34	0.0154827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	.	0.0044	0.00419329	0.0049	0.0011	0.0039	0	0.0002	0.0062	0.0088	0.0068	0.0047541	735	154602	rs45622033	0.0057	0.0057	0.0057	0.0058	0.0130	0.0056	0.0056	0.0106	0.0098	0.0007	0.0049	0.0051	0	0.0004	0.0130	0.0063	0.0057	0.0068	0.0042	0.0042	0.0043	0.0041	0.0065	0.0039	0.0038	0.0060	0.0058	0.0008	0	0.0060	0.0046	0	0.0006	0.0204	0.0065	0.0071	0.0064	.	.	.	0.531	0.10069	T	0.003	0.11197	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	0.425	0.12573	N	3.22	0.07024	T	.	.	.	0.056	0.02759	-1.0327	0.19586	T	0.023	0.09878	T	8	0.004916489	0.00105	T	.	.	.	.	.	.	.	0.136095386433	0.13204	0.03217921690351515	0.03165	0.0669319524144	0.07465	0.216768398881	0.01132	T	8.08E-4	0.00390	T	-0.771328	0.00013	T	-0.876731	0.00682	T	0.00221911122000697	0.00023	T	0.80082	0.44648	T	0.032995433	0.03432	0.04251082	0.05079	0.032995433	0.03432	0.04251082	0.05079	-6.572	0.50839	T	.	.	0.156	0.34536	B	.	.	-0.419110	0.02142	0.206	0.80935089646853298	0.13440	0.00002	0.00064	N	AEFBHCI	0.025855	0.01841	N	-1.6336972419401	0.01105	0.04799848	-1.73896296541276	0.00975	0.04369867	0.0330489298285474	0.14086	0.706548	0.73137	0	0.588015	0.36545	0	0.724815	0.87919	0	0.683762	0.67416	0	.	.	1.93	-3.85	0.03964	-4.150000	0.00323	.	.	-0.515000	0.04990	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.319:0.2971:0.3839:0.0	5.340	0.15282	988	0.01987	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.011581	0.010101	0.017663	0.011696	0.000000	0.017241	0.009146	0.011364	0.05263	2541.83	35	chr19	52115218	.	C	T	2541.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.07;DP=819;ExcessHet=0.119;FS=0.504;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=11.99;ReadPosRankSum=0.683;SOR=0.744	GT:AD:DP:GQ:PL	0/1:59,45:104:99:1124,0,1752	17	0	2	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	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.07895	3948.52	103	chr19	52384821	.	G	GATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCC	3948.52	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.913;DP=1172;ExcessHet=6.9875;FS=83.047;InbreedingCoeff=-0.3567;MLEAC=3;MLEAF=0.079;MQ=58.37;MQRankSum=-1.962;QD=6.88;ReadPosRankSum=-1.104;SOR=8.979	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:21,18:39:99:0|1:52384817_T_TTTGGGAGGCCGAGGCGG:693,0,828:52384817	16	0	3	0
chr19	52714086	52714086	C	A	exonic	ZNF611	.	nonsynonymous SNV	ZNF611:NM_001161500:exon4:c.G119T:p.C40F,ZNF611:NM_001161499:exon5:c.G119T:p.C40F,ZNF611:NM_030972:exon6:c.G119T:p.C40F	.	178	1314	28	2	0	32	0.0120301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.00281738910045	0.0039	0.00119808	0.0035	0.0009	0.0066	0.0003	0.0009	0.0041	0.0066	0.0033	0.0037268	97	26028	rs149629821	0.0040	0.0040	0.0039	0.0041	0.0104	0.0039	0.0039	0.0083	0.0075	0.0014	0.0049	0.0042	0.0003	0.0006	0.0104	0.0043	0.0040	0.0032	0.0026	0.0026	0.0027	0.0025	0.0039	0.0024	0.0023	0.0035	0.0034	0.0010	0	0.0027	0.0052	0.0006	0.0007	0.0034	0.0039	0.0038	0.0023	0.113	0.28772	T	0.201	0.27503	T	0.011	0.15914	B	0.069	0.27757	B	.	.	.	.	1	0.08975	N	1.77	0.45869	L	4.64	0.01799	T	-7.15	0.94096	D	0.111	0.11483	-0.9276	0.44487	T	0.007	0.02321	T	9	0.021801442	0.00529	T	0.002817	0.05898	T	0.075	0.21907	.	.	0.0762999501168	0.06990	0.06691334628893894	0.06629	0.0205346747606	0.02017	0.345161855221	0.17207	T	0.011663	0.10375	T	-0.666698	0.00057	T	-0.728937	0.04375	T	0.0239546125926923	0.01139	T	0.0345715	0.00233	T	0.2832653	0.51360	0.30935505	0.56950	0.2832653	0.51360	0.30935505	0.56949	-7.58	0.58171	D	.	.	0.135	0.29311	B	.;.;.;.	.;.;.;.	0.066178	0.04756	1.380	0.51469931782380163	0.04569	0.00225	0.01265	N	AEFBI	0.028400	0.02493	N	-1.69704696893847	0.00852	0.03686995	-1.73446749451502	0.00993	0.04449944	9.26090197134346E-6	0.01202	0.651	0.46895	0	0.653731	0.59785	0	0.65145	0.50148	0	0.636168	0.56350	0	.	.	3.03	0.549	0.16403	-1.479000	0.02432	.	.	-1.215000	0.01346	0.000000	0.06391	0.000000	0.08366	0.005000	0.06747	0.4493:0.5507:0.0:0.0	11.551	0.49974	900	0.24599	Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box;Krueppel-associated box|Krueppel-associated box|Krueppel-associated box|Krueppel-associated box	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	3076.33	33	chr19	52714086	.	C	A	3076.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.196;DP=921;ExcessHet=0;FS=0.917;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=55.72;MQRankSum=-12.74;QD=11.03;ReadPosRankSum=0.194;SOR=0.634	GT:AD:DP:GQ:PL	0/1:158,121:279:99:3090,0,4140	18	0	1	0
chr19	52801003	52801003	C	T	exonic	ZNF28	.	nonsynonymous SNV	ZNF28:NM_001369762:exon3:c.G683A:p.G228D,ZNF28:NM_001369763:exon4:c.G833A:p.G278D,ZNF28:NM_001369764:exon4:c.G800A:p.G267D,ZNF28:NM_006969:exon4:c.G842A:p.G281D,ZNF28:NM_001369765:exon5:c.G734A:p.G245D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.000537088295201	0.0005	0.000399361	0.0008	0	0	0	0	0.0009	0	0.0021	0.0006727	104	154602	rs145673349	0.0006	0.0006	0.0005	0.0006	0.0018	0.0005	0.0005	0.0015	0.0014	0.0001	0	3.826e-05	0	0.0003	0.0005	0.0005	0.0005	0.0018	0.0004	0.0004	0.0004	0.0005	0.0017	0.0004	0.0003	0.0008	0.0006	4.818e-05	0	0.0001	0	0.0002	0.0004	0	0.0007	0	0.0017	0.091	0.40319	T	0.197	0.34477	T	0.085	0.24868	B	0.091	0.29943	B	.	.	.	.	1	0.08975	N	0.72	0.18721	N	2.46	0.18083	T	-0.97	0.31576	N	0.084	0.06059	-0.9752	0.36082	T	0.025	0.10643	T	9	0.007866472	0.00179	T	5.37E-4	0.00196	T	0.003	0.00094	.	.	0.0884992946249	0.08302	0.01421655497026517	0.01378	0.0576419736178	0.06386	0.356519758701	0.18878	T	0.019422	0.15476	T	-0.71765	0.00029	T	-0.810895	0.01645	T	0.0107909258104284	0.00153	T	0.258474	0.08382	T	0.03966939	0.05521	0.06329317	0.12517	0.03966939	0.05521	0.06329317	0.12517	-5.564	0.42462	T	.	.	0.248	0.55243	B	.;.;.	.;.;.	-0.356190	0.02382	0.263	0.6872395974402109	0.08747	0.00572	0.02591	N	AEFBCI	0.020703	0.00845	N	-1.39250366065193	0.02708	0.119946	-1.54911949624795	0.01982	0.09053529	0.00295616972720036	0.09827	0.562547	0.31514	0	0.653731	0.59785	0	0.608884	0.39905	0	0.635551	0.53088	0	.	.	1.47	-2.94	0.05245	-2.964000	0.00736	.	.	-1.377000	0.01163	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.463:0.2073:0.3297	3.713	0.07958	976	0.04745	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.000000	0.000000	0.02632	2016.33	41	chr19	52801003	.	C	T	2016.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.65;DP=1803;ExcessHet=0;FS=4.612;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.52;ReadPosRankSum=1.11;SOR=0.636	GT:AD:DP:GQ:PL	0/1:85,76:161:99:2030,0,2233	18	0	1	0
chr19	53576886	53576886	A	T	exonic	ZNF331	.	nonsynonymous SNV	ZNF331:NM_001253801:exon5:c.A326T:p.K109I,ZNF331:NM_001317113:exon5:c.A326T:p.K109I,ZNF331:NM_001317116:exon5:c.A326T:p.K109I,ZNF331:NM_001317119:exon5:c.A326T:p.K109I,ZNF331:NM_001317121:exon5:c.A326T:p.K109I,ZNF331:NM_001079906:exon6:c.A326T:p.K109I,ZNF331:NM_001079907:exon6:c.A326T:p.K109I,ZNF331:NM_001253799:exon6:c.A326T:p.K109I,ZNF331:NM_001253800:exon6:c.A326T:p.K109I,ZNF331:NM_001317114:exon6:c.A326T:p.K109I,ZNF331:NM_001317117:exon6:c.A326T:p.K109I,ZNF331:NM_001317118:exon6:c.A326T:p.K109I,ZNF331:NM_001253798:exon7:c.A326T:p.K109I,ZNF331:NM_001317115:exon7:c.A326T:p.K109I,ZNF331:NM_001317120:exon7:c.A326T:p.K109I,ZNF331:NM_018555:exon7:c.A326T:p.K109I	.	435	1059	23	4	1	32	0.0144253	.	.	.	705236	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.079	.	0.0053	0.00179712	0.0077	0.0013	0.0027	0	0.0082	0.0117	0.0066	0.0031	0.0074837	1157	154602	rs112855712	0.0067	0.0067	0.0068	0.0067	0.0074	0.0066	0.0066	0.0073	0.0072	0.0008	0.0038	0.0062	5.038e-05	0.0095	0.0057	0.0074	0.0062	0.0037	0.0055	0.0055	0.0058	0.0052	0.0083	0.0052	0.0051	0.0077	0.0075	0.0013	0	0.0059	0.0069	0	0.0065	0.0034	0.0083	0.0066	0.0039	0.023	0.72154	D	0.07	0.59159	T	0.045	0.21781	B	0.025	0.20508	B	0.073077	0.21369	N	0.240961	0.992882	0.41771	D	1.76	0.45711	L	3.11	0.09450	T	-4.05	0.79482	D	0.272	0.38541	-1.0468	0.15303	T	0.019	0.08033	T	10	0.007546127	0.00171	T	.	.	.	0.079	0.23065	.	.	0.46763814438	0.46390	0.27162076510049704	0.27075	1.421377758	0.85618	0.342191696167	0.16767	T	0.274482	0.64698	T	-0.470923	0.00839	T	-0.438837	0.28939	T	0.0143751333753561	0.00288	T	0.263374	0.12411	T	0.23822464	0.46697	0.16513857	0.38219	0.23822464	0.46697	0.16513857	0.38219	-5.146	0.38388	T	.	.	0.453	0.62351	A	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	1.426013	0.18436	13.73	0.99465340397474589	0.66049	0.05243	0.11077	N	AEFDBHCI	0.024695	0.01571	N	-0.779706392904022	0.13839	0.6847546	-0.859162418193244	0.13067	0.6758589	5.33915717425274E-5	0.04171	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	2.64	2.64	0.30504	0.989000	0.29229	.	.	0.691000	0.84096	0.002000	0.15269	0.000000	0.08366	0.032000	0.13371	1.0:0.0:0.0:0.0	9.054	0.35558	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	0	0	1	0	0.003525	0.000000	0.002717	0.000000	0.000000	0.000000	0.009146	0.011364	0.05263	3305.83	36	chr19	53576886	.	A	T	3305.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-1.686;DP=1003;ExcessHet=0.119;FS=3.028;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=15.45;ReadPosRankSum=0.506;SOR=0.822	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:66,55:121:99:0|1:53576886_A_T:2104,0,2577:53576886	17	0	2	0
chr19	54739533	54739533	C	A	exonic	KIR2DL1;KIR2DL2;KIR2DL3;KIR2DS2;KIR2DS3;LOC102725023	.	nonsynonymous SNV	KIR2DS2:NM_001291695:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291696:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291700:exon2:c.C61A:p.P21T,KIR2DS2:NM_001291701:exon2:c.C61A:p.P21T,LOC102725023:NM_001360171:exon2:c.C61A:p.P21T,KIR2DS2:NM_012312:exon2:c.C61A:p.P21T,KIR2DS3:NM_012313:exon2:c.C61A:p.P21T,KIR2DL1:NM_014218:exon2:c.C61A:p.P21T,KIR2DL2:NM_014219:exon2:c.C61A:p.P21T,KIR2DL3:NM_015868:exon2:c.C61A:p.P21T	.	407	439	674	2	0	678	0.435733	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	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	.	.	.	.	.	.	Likely benign	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	.	.	.	.	.	.	.	.	0.2895	14224.2	453	chr19	54739533	.	C	A	14224.2	.	AC=11;AF=0.289;AN=38;BaseQRankSum=-1.789;DP=6357;ExcessHet=8.9063;FS=2.315;InbreedingCoeff=-0.4074;MLEAC=11;MLEAF=0.289;MQ=54.78;MQRankSum=1.23;QD=2.68;ReadPosRankSum=1.17;SOR=0.487	GT:AD:DP:GQ:PL	0/1:276,66:342:99:838,0,7381	8	0	11	0
chr19	54758607	54758607	G	C	splicing	LOC112267881	NM_001368251:exon3:c.71-1G>C	.	.	.	431	1048	34	9	0	52	0.0242086	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.00419329	.	.	.	.	.	.	.	.	0.000401	62	154602	rs200443054	0.0058	0.0060	0.0052	0.0065	0.0206	0.0057	0.0057	0.0198	0.0194	0.0006	0.0021	0.0011	0	0.0009	0.0173	0.0055	0.0070	0.0206	0.0036	0.0036	0.0035	0.0037	0.0187	0.0033	0.0032	0.0155	0.0144	0.0007	0	0.0029	0.0009	0.0006	0.0005	0.0174	0.0051	0.0069	0.0187	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	4512.83	155	chr19	54758607	.	G	C	4512.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.316;DP=1668;ExcessHet=0.119;FS=16.662;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=37.38;MQRankSum=5.86;QD=16.84;ReadPosRankSum=-0.176;SOR=1.468	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:15,79:94:99:1|0:54758604_C_T:2621,0,372:54758604	17	0	2	0
chr19	54758623	54758623	-	GGGGG	exonic	LOC112267881	.	unknown	UNKNOWN	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	33.29	155	chr19	54758623	.	C	CGGGGG	33.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-3.295;DP=2144;ExcessHet=0;FS=31.287;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=44.86;MQRankSum=-1.45;QD=0.34;ReadPosRankSum=1.2;SOR=4.996	GT:AD:DP:GQ:PL	0/1:92,7:106:47:47,0,3751	18	0	1	0
chr19	55358524	55358524	C	0	exonic	FAM71E2	.	.	.	.	438	22	102	3	957	1065	0.710526	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3628.45	124	chr19	55358524	.	C	*	3628.45	.	AC=34;AF=0.895;AN=38;DP=2110;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.07;SOR=0.847	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,69:69:99:.:.:3008,212,0:.	0	15	4	0
chr19	55358535	55358535	T	0	exonic	FAM71E2	.	.	.	.	454	13	102	3	950	1058	0.80597	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8947	3915.38	124	chr19	55358535	.	T	*	3915.38	.	AC=34;AF=0.895;AN=38;DP=2124;ExcessHet=0.119;FS=0;InbreedingCoeff=-0.0556;MLEAC=34;MLEAF=0.895;MQ=60;QD=2.23;SOR=0.837	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,69:69:99:.:.:3008,212,0:.	0	15	4	0
chr19	55378033	55378033	A	G	exonic	TMEM190	.	nonsynonymous SNV	TMEM190:NM_139172:exon5:c.A364G:p.M122V	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.023	0.00344449210613	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1319059304	3.423e-06	3.42e-06	2.724e-06	4.128e-06	0.0009	1e-06	7.3e-07	0.0003	0.0002	0	0	0	0	0	0.0009	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.022	0.48642	D	0.059	0.45961	T	0.002	0.09854	B	0.002	0.06944	B	0.736779	0.09809	N	0.817361	1	0.08975	N	0	0.06538	N	.	.	.	-1.17	0.29933	N	0.096	0.07673	-1.0296	0.20583	T	0.037	0.16073	T	9	0.034504443	0.01661	T	0.003444	0.07755	T	0.023	0.04649	0.161	0.06507	0.0920862733494	0.08535	0.14879602737604533	0.14801	0.441629838228	0.44142	0.276694118977	0.07036	T	0.047748	0.27815	T	-0.408721	0.02027	T	-0.655748	0.08556	T	0.0235258825731104	0.01086	T	0.277372	0.04781	T	0.13809955	0.31952	0.103022754	0.24708	0.13809955	0.31952	0.103022754	0.24707	-2.105	0.03605	T	.	.	0.062	0.01252	B	.	.	-0.148480	0.03363	0.598	0.37640805533347094	0.02492	0.01759	0.05532	N	AEFDGBCI	0.024227	0.01466	N	-1.82218676276125	0.00493	0.02122421	-1.84828735829952	0.00617	0.02739902	0.999988788207661	0.51787	0.652421	0.48094	0	0.547309	0.14657	0	0.64067	0.45733	0	0.63947	0.58350	0	.	.	3.02	-1.72	0.07671	-1.597000	0.02192	-2.658000	0.03498	-4.666000	0.00023	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2056:0.4214:0.0:0.373	2.774	0.05015	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	.	.	.	.	.	.	.	.	0.02632	1106.33	33	chr19	55378033	.	A	G	1106.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.545;DP=775;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.54;ReadPosRankSum=1.02;SOR=0.743	GT:AD:DP:GQ:PL	0/1:56,49:105:99:1120,0,1446	18	0	1	0
chr19	55678602	55678602	G	A	exonic	EPN1	.	nonsynonymous SNV	EPN1:NM_001130071:exon3:c.G308A:p.C103Y	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.074	0.0396148521541	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.961e-07	4.104e-06	0	1.403e-06	.	0	0	.	.	0	0	0	0	0	0	0	1.677e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	0.681	0.41422	P	0.089	0.29769	B	.	.	.	.	1	0.21028	N	.	.	.	2.47	0.14783	T	0.0	0.07008	N	0.266	0.30118	-1.0383	0.17832	T	0.026	0.11043	T	8	0.13506365	0.25702	T	0.039615	0.58911	D	0.074	0.21613	0.242	0.17524	0.252162846088	0.24830	0.4719233532865524	0.47111	1.46174912538	0.86360	0.445617675781	0.31346	T	.	.	.	-0.301337	0.08534	T	-0.670626	0.07569	T	0.268650916351005	0.23689	T	0.424358	0.11346	T	.	.	.	.	.	.	.	.	-5.622	0.42993	T	.	.	0.167	0.36850	B	.	.	1.253358	0.16501	12.58	0.94829923703279739	0.25609	0.05579	0.11480	N	AEFGBHCI	0.150124	0.27436	N	-0.528129356396981	0.21175	1.121815	-0.650444670833936	0.18206	0.9715283	0.99999978250242	0.74766	0.722319	0.85440	0	0.52208	0.09955	0	0.723133	0.82415	0	0.735409	0.98432	0	.	.	2.56	1.5	0.22029	-0.094000	0.11060	1.238000	0.25088	0.613000	0.49114	0.000000	0.06391	0.022000	0.20871	0.497000	0.28949	0.0:0.3106:0.6894:0.0	8.603	0.32918	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	.	.	.	.	.	.	.	.	0.02632	1911.33	41	chr19	55678602	.	G	A	1911.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.934;DP=794;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.66;ReadPosRankSum=1.19;SOR=0.714	GT:AD:DP:GQ:PL	0/1:75,76:151:99:1925,0,1991	18	0	1	0
chr19	55789259	55789259	C	T	exonic	NLRP11	.	nonsynonymous SNV	NLRP11:NM_001297743:exon9:c.G2357A:p.R786K,NLRP11:NM_001385451:exon9:c.G2492A:p.R831K,NLRP11:NM_145007:exon10:c.G2654A:p.R885K	.	421	1100	1	0	0	1	0.000454339	.	.	.	4004155	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.030	0.00305001854726	.	.	5.84e-05	0	0	0	0	0	0	0.0005	4.53e-05	7	154602	rs762908354	3.148e-05	3.147e-05	1.498e-05	4.815e-05	0.0005	2.413e-05	2.158e-05	0.0004	0.0004	0	0	0	0	0	0	0	1.656e-05	0.0005	6.569e-06	6.566e-06	1.285e-05	0	0.0002	0	0	.	.	0	0	0	0	0	0	0	0	0	0.0002	.	.	.	0.365	0.16717	T	0.014	0.19075	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	-0.37	0.03087	N	1.05	0.39990	T	.	.	.	0.09	0.06854	-1.0222	0.22998	T	0.024	0.10239	T	9	0.039215118	0.02395	T	0.00305	0.06577	T	.	.	0.56	0.67958	0.119812018005	0.11559	0.1020061422669596	0.10131	.	.	0.228957727551	0.01892	T	0.003106	0.02504	T	-0.61274	0.00122	T	-0.807416	0.01724	T	0.024019916793824	0.01148	T	0.331767	0.06954	T	0.03229003	0.03227	0.04602542	0.06324	0.03229003	0.03227	0.04602542	0.06324	-2.739	0.08018	T	.	.	0.112	0.21803	B	.;.;.	.;.;.	-1.013496	0.00752	0.023	0.36984141538716858	0.02410	0.00052	0.00397	N	AEFBI	0.021658	0.00989	N	-1.87946621574834	0.00378	0.01625798	-1.91850954692709	0.00450	0.01990775	0.00222482917535886	0.09245	0.553676	0.25195	0	0.588015	0.36545	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	2.85	-5.71	0.02218	-0.973000	0.03908	-12.751000	0.00503	-0.916000	0.02226	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.2605:0.46:0.2795	5.500	0.16114	846	0.36215	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	1	0	.	.	.	.	.	.	.	.	0.02632	2538.33	37	chr19	55789259	.	C	T	2538.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.636;DP=915;ExcessHet=0;FS=8.84;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.97;ReadPosRankSum=-1.048;SOR=0.79	GT:AD:DP:GQ:PL	0/1:106,106:212:99:2552,0,2762	18	0	1	0
chr19	55932076	55932076	C	A	exonic	NLRP13	.	nonsynonymous SNV	NLRP13:NM_001321057:exon1:c.G236T:p.G79V,NLRP13:NM_176810:exon1:c.G236T:p.G79V	.	439	1082	1	0	0	1	0.000461894	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	0.00388345138052	.	.	0.0002	0	0	0.0006	0	5.998e-05	0	0.0008	0.0001423	22	154602	rs763183429	0.0001	0.0001	0.0001	0.0002	0.0014	0.0001	0.0001	0.0012	0.0011	0	0	3.826e-05	0.0012	0	0	2.068e-05	0.0003	0.0014	6.568e-05	6.562e-05	6.425e-05	6.717e-05	0.0010	3.515e-05	2.615e-05	0.0004	0.0003	0	0	0	0	0.0008	0	0	1.47e-05	0	0.0010	0.089	0.32141	T	0.159	0.39190	T	0.494	0.37037	P	0.17	0.35299	B	.	.	.	.	1	0.08975	N	1.15	0.29295	L	0.79	0.49068	T	-1.2	0.30555	N	0.241	0.27197	-1.0538	0.13359	T	0.055	0.23262	T	9	0.045886666	0.03712	T	0.003883	0.09117	T	0.025	0.05312	.	.	0.422524665647	0.41870	0.04786445269929214	0.04729	0.0649752695201	0.07257	0.296583533287	0.09892	T	0.003937	0.03343	T	-0.547231	0.00303	T	-0.62359	0.10906	T	0.0403642070663377	0.03756	T	0.424958	0.11391	T	0.035819564	0.04288	0.042790435	0.05176	0.035819564	0.04288	0.042790435	0.05175	-4.579	0.31907	T	.	.	0.141	0.32275	B	.;.	.;.	-0.027328	0.04097	0.964	0.97098106973445952	0.32353	0.00367	0.01872	N	AEFBI	0.032899	0.03801	N	-1.05794897177841	0.07432	0.3452459	-1.21220008796217	0.05713	0.2729874	2.42182165804857E-6	0.01202	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	1.97	-1.62	0.07926	-1.187000	0.03176	-2.357000	0.03856	-0.257000	0.07002	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.257:0.4052:0.0:0.3377	2.055	0.03362	934	0.15400	DAPIN domain|DAPIN domain|DAPIN domain;DAPIN domain|DAPIN domain|DAPIN 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	.	.	.	.	.	.	.	.	0.02632	1182.33	35	chr19	55932076	.	C	A	1182.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.785;DP=745;ExcessHet=0;FS=1.527;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.85;ReadPosRankSum=1.26;SOR=0.55	GT:AD:DP:GQ:PL	0/1:60,49:109:99:1196,0,1627	18	0	1	0
chr19	56208826	56208826	G	A	exonic	ZSCAN5C	.	nonsynonymous SNV	ZSCAN5C:NM_001358413:exon4:c.G1117A:p.V373I	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.010	0.000226132683067	.	.	4.463e-05	0	0	0	0	6.471e-05	0	6.355e-05	4.53e-05	7	154602	rs200083612	6.757e-05	6.712e-05	7.252e-05	6.262e-05	7.713e-05	5.644e-05	5.242e-05	6.337e-05	5.823e-05	3.138e-05	2.254e-05	0.0001	0	0	0	7.713e-05	6.832e-05	4.705e-05	5.274e-05	5.253e-05	3.869e-05	6.741e-05	7.356e-05	2.564e-05	1.835e-05	2.848e-05	1.859e-05	2.433e-05	0	6.549e-05	0	0	0	0	7.356e-05	0.0005	0	1.0	0.00964	T	0.973	0.02465	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	2.25	0.17761	T	0.61	0.02480	N	0.031	0.01068	-1.0011	0.29602	T	0.013	0.04938	T	6	0.046458095	0.03839	T	2.26E-4	0.00006	T	0.010	0.01040	0.247	0.18293	0.0401082797425	0.02173	0.02805130801003512	0.02755	0.00738871656898	0.00648	.	.	.	5.97E-4	0.00245	T	-0.554251	0.00275	T	-0.818585	0.01481	T	0.0311967388504689	0.02177	T	0.473453	0.14099	T	0.015106304	0.00122	0.024336869	0.00452	0.015106304	0.00122	0.024336869	0.00452	-3.09	0.11182	T	.	.	0.183	0.40229	B	.;.	.;.	-1.249987	0.00483	0.010	0.1820342062255913	0.00562	0.00029	0.00276	N	AEFDGBI	0.020513	0.00818	N	-1.65724445749086	0.01005	0.04356123	-1.89122906459377	0.00510	0.02258063	0.190015975158835	0.17987	0.554377	0.28877	0	0.573888	0.26702	0	0.547309	0.15389	0	0.567892	0.33627	0	.	.	1.38	-2.76	0.05547	-4.542000	0.00251	.	.	-1.792000	0.00636	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.2589:0.4055:0.3356:0.0	4.329	0.10493	934	0.15400	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	4578.33	43	chr19	56208826	.	G	A	4578.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.05;DP=1416;ExcessHet=0;FS=1.815;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.04;ReadPosRankSum=2.39;SOR=0.596	GT:AD:DP:GQ:PL	0/1:154,172:326:99:4592,0,3676	18	0	1	0
chr19	56423401	56423401	C	T	exonic	ZNF583	.	nonsynonymous SNV	ZNF583:NM_001159860:exon5:c.C743T:p.T248M,ZNF583:NM_001159861:exon5:c.C743T:p.T248M,ZNF583:NM_152478:exon5:c.C743T:p.T248M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.078	0.0132501974951	.	.	8.305e-06	0	0	0	0	1.511e-05	0	0	1.94e-05	3	154602	rs200724967	4.721e-05	4.72e-05	5.037e-05	4.401e-05	5.576e-05	3.794e-05	3.476e-05	4.439e-05	4.029e-05	2.987e-05	0	0	0	0	0	5.576e-05	8.281e-05	1.159e-05	4.603e-05	4.598e-05	5.142e-05	4.039e-05	8.821e-05	2.111e-05	1.528e-05	3.762e-05	2.575e-05	0	0	6.551e-05	0	0	0	0	8.821e-05	0	0	0.001	0.78490	D	0.001	0.83351	D	0.998	0.73220	D	0.885	0.62825	P	0.008176	0.30981	N	0.151456	1	0.08975	N	1.57	0.39626	L	1.26	0.36330	T	-1.94	0.45042	N	0.084	0.06059	-1.0010	0.29631	T	0.131	0.44088	T	9	0.15928221	0.29931	T	0.01325	0.32506	T	0.078	0.22779	.	.	0.619248587047	0.61616	0.15939891142175933	0.15860	0.591036329476	0.54550	0.316146790981	0.12838	T	0.054407	0.29715	T	-0.326162	0.06405	T	-0.54992	0.17333	T	0.232529327273369	0.22071	T	0.247375	0.03654	T	0.10652378	0.25188	0.14677249	0.34758	0.10652378	0.25188	0.14677249	0.34758	-8.621	0.65228	D	.	.	0.128	0.30608	B	.;.	.;.	3.236576	0.44165	21.9	0.99753431525988401	0.84460	0.00006	0.00120	N	AEFDGBHCI	0.100102	0.20136	N	-0.0316825273823774	0.40423	2.400412	-0.181581048656744	0.32213	1.830519	0.0260131815130392	0.13685	0.562547	0.31514	0	0.588015	0.36545	0	0.618467	0.43123	0	0.635551	0.53088	0	.	.	4.43	3.38	0.37806	0.008000	0.13095	.	.	0.524000	0.24156	0.000000	0.06391	0.000000	0.08366	0.189000	0.21571	0.1791:0.5546:0.1731:0.0932	3.419	0.06958	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	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1024.33	33	chr19	56423401	.	C	T	1024.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.847;DP=717;ExcessHet=0;FS=5.124;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.35;ReadPosRankSum=-0.521;SOR=0.342	GT:AD:DP:GQ:PL	0/1:57,42:99:99:1038,0,1486	18	0	1	0
chr19	57254468	57254468	G	A	exonic	ZNF805	.	nonsynonymous SNV	ZNF805:NM_001145078:exon3:c.G1250A:p.R417H,ZNF805:NM_001023563:exon4:c.G1649A:p.R550H	.	.	.	.	.	.	.	.	.	.	.	2220126	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.155	0.0018099910988	0.0002	.	3.297e-05	0	0	0	0	5.998e-05	0	0	2.59e-05	4	154602	rs372060986	7.593e-05	7.593e-05	8.984e-05	6.188e-05	9.083e-05	6.423e-05	6.004e-05	7.597e-05	7.086e-05	5.974e-05	0	0	2.519e-05	1.872e-05	0	9.083e-05	4.967e-05	3.478e-05	5.914e-05	5.91e-05	5.138e-05	6.727e-05	0.0001	3.077e-05	2.21e-05	4.765e-05	3.339e-05	4.826e-05	0	0	0	0	0	0	0.0001	0	0	0.153	0.24372	T	0.234	0.24840	T	0.998	0.73220	D	0.913	0.64886	D	0.750758	0.06483	N	1.142240	0.999683	0.20694	N	0.105	0.08473	N	2.25	0.17761	T	-1.99	0.45949	N	0.176	0.24758	-1.0436	0.16236	T	0.067	0.27537	T	10	0.13781399	0.26214	T	0.00181	0.03115	T	0.155	0.40530	.	.	0.187035705434	0.18338	0.05148726759072695	0.05090	0.359438089845	0.37635	0.620201945305	0.55757	T	0.002764	0.02156	T	-0.354424	0.04455	T	-0.52118	0.20175	T	0.223428055644035	0.21634	T	0.0247975	0.00150	T	0.08670677	0.20163	0.07493356	0.16445	0.08670677	0.20162	0.07493356	0.16444	-4.541	0.34392	T	.	.	0.511	0.70872	A	.;.	.;.	3.420720	0.47492	22.5	0.99864476283632941	0.94276	0.18428	0.20256	N	AEFBCI	0.031971	0.03522	N	0.171016307606661	0.49810	3.177448	0.131596062715107	0.46174	2.86775	0.00191906458950274	0.09002	0.562547	0.31514	0	0.577304	0.33150	0	0.608884	0.39905	0	0.491896	0.07777	0	.	.	4.62	4.62	0.56946	0.036000	0.13706	.	.	0.676000	0.76740	0.000000	0.06391	0.000000	0.08366	0.997000	0.79791	0.0:0.1688:0.6569:0.1743	8.242	0.30827	940	0.13648	.;Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.008621	0.000000	0.000000	0.02632	3324.33	39	chr19	57254468	.	G	A	3324.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.9;DP=901;ExcessHet=0;FS=0.574;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=18.27;ReadPosRankSum=0.833;SOR=0.782	GT:AD:DP:GQ:PL	0/1:63,119:182:99:3338,0,1423	18	0	1	0
chr19	57456397	57456397	A	C	exonic	VN1R1	.	nonsynonymous SNV	VN1R1:NM_020633:exon1:c.T90G:p.N30K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.00305673777914	0.0002	0.000199681	5.789e-05	0	0	0	0	0.0001	0	0	7.12e-05	11	154602	rs202011839	8.075e-05	8.072e-05	9.258e-05	6.88e-05	9.717e-05	6.871e-05	6.423e-05	8.216e-05	7.636e-05	2.988e-05	2.237e-05	0	0	0	0	9.717e-05	0.0001	0	4.595e-05	4.593e-05	3.854e-05	5.369e-05	0.0001	2.107e-05	1.526e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0	0.0001	0	0	1.0	0.00964	T	1.0	0.01155	T	0.015	0.17086	B	0.005	0.11217	B	.	.	.	.	1	0.08975	N	0.55	0.14455	N	1.2	0.37405	T	-0.09	0.08340	N	0.057	0.02861	-0.9958	0.31082	T	0.027	0.11441	T	9	0.031712174	0.01310	T	0.003057	0.06606	T	0.030	0.07022	0.261	0.20473	0.115124310173	0.11017	0.05474918498198184	0.05415	0.0941732856784	0.10632	0.559492468834	0.47196	T	0.002183	0.01585	T	-0.515683	0.00466	T	-0.741851	0.03813	T	0.0258605517278639	0.01387	T	0.312169	0.06100	T	0.039108053	0.05337	0.036647364	0.03155	0.039108053	0.05336	0.036647364	0.03154	-2.774	0.07946	T	.	.	0.093	0.14108	B	.	.	0.442321	0.08122	4.855	0.094203104805069479	0.00096	0.00971	0.03712	N	AEFBI	.	.	.	-1.69263061456464	0.00868	0.03756862	-1.75284994996098	0.00922	0.04127945	7.8935581188912E-4	0.07810	0.554377	0.28877	0	0.573888	0.26702	0	0.602189	0.34648	0	0.564101	0.26826	0	.	.	3.55	-5.76	0.02183	-0.434000	0.07009	.	.	-1.270000	0.01281	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1572:0.1333:0.1394:0.5701	2.246	0.03785	982	0.03397	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.02632	997.33	37	chr19	57456397	.	A	C	997.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.46;DP=750;ExcessHet=0;FS=4.112;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.73;ReadPosRankSum=0.642;SOR=0.633	GT:AD:DP:GQ:PL	0/1:42,43:85:99:1011,0,1040	18	0	1	0
chr19	57926277	57926278	GT	-	exonic	ZNF418	.	stopgain	ZNF418:NM_001317030:exon2:c.1648_1649del:p.T550*,ZNF418:NM_133460:exon4:c.1903_1904del:p.T635*,ZNF418:NM_001317027:exon5:c.1966_1967del:p.T656*,ZNF418:NM_001317028:exon5:c.1906_1907del:p.T636*,ZNF418:NM_001317029:exon5:c.1903_1904del:p.T635*	.	427	1074	15	0	6	21	0.00693481	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0090	0.0011	0.0101	0	0.0082	0.0130	0.0044	0.0019	0.0007684	20	26028	rs750922476	0.0017	0.0076	0.0017	0.0018	0.0040	0.0017	0.0017	0.0028	0.0023	0.0004	0.0008	0.0059	0	0.0028	0.0040	0.0018	0.0023	0.0001	0.0061	0.0089	0.0064	0.0057	0.0095	0.0057	0.0056	0.0089	0.0086	0.0011	0.0099	0.0052	0.0208	0	0.0048	0.0034	0.0095	0.0076	0.0012	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	877.29	35	chr19	57926276	.	AGT	A	877.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.04;DP=744;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.7;MQRankSum=-3.112;QD=6.96;ReadPosRankSum=-4.226;SOR=0.615	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:96,30:126:99:0|1:57926261_T_A:891,0,3914:57926261	18	0	1	0
chr19	57926279	57926279	-	GG	exonic	ZNF418	.	frameshift insertion	ZNF418:NM_001317030:exon2:c.1646_1647insCC:p.T550Lfs*53,ZNF418:NM_133460:exon4:c.1901_1902insCC:p.T635Lfs*53,ZNF418:NM_001317027:exon5:c.1964_1965insCC:p.T656Lfs*53,ZNF418:NM_001317028:exon5:c.1904_1905insCC:p.T636Lfs*53,ZNF418:NM_001317029:exon5:c.1901_1902insCC:p.T635Lfs*53	.	428	1073	15	0	6	21	0.00694123	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0085	0.0011	0.0095	0	0.0073	0.0123	0.0044	0.0018	0.0007684	20	26028	rs756712461	0.0016	0.0063	0.0015	0.0016	0.0040	0.0015	0.0015	0.0028	0.0023	0.0003	0.0008	0.0056	0	0.0025	0.0040	0.0016	0.0020	6.986e-05	0.0061	0.0089	0.0064	0.0057	0.0094	0.0057	0.0056	0.0088	0.0086	0.0011	0.0090	0.0052	0.0213	0	0.0048	0.0036	0.0094	0.0078	0.0013	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	795.29	35	chr19	57926279	.	A	AGG	795.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=7.21;DP=738;ExcessHet=0;FS=1.791;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.69;MQRankSum=-3.309;QD=6.63;ReadPosRankSum=-3.782;SOR=0.918	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:94,26:120:99:0|1:57926261_T_A:809,0,3869:57926261	18	0	1	0
chr19	57926286	57926286	A	G	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.T1640C:p.F547S,ZNF418:NM_133460:exon4:c.T1895C:p.F632S,ZNF418:NM_001317027:exon5:c.T1958C:p.F653S,ZNF418:NM_001317028:exon5:c.T1898C:p.F633S,ZNF418:NM_001317029:exon5:c.T1895C:p.F632S	.	429	1077	15	0	1	16	0.00691563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.037	0.00139176472516	.	.	0.0011	0.0002	0.0009	0	0.0002	0.0018	0.0011	0.0001	0.0001153	3	26028	rs754856969	0.0007	0.0022	0.0007	0.0007	0.0019	0.0007	0.0006	0.0011	0.0008	0.0002	0.0005	0.0037	0	0.0012	0.0019	0.0007	0.0011	0	0.0043	0.0078	0.0044	0.0041	0.0065	0.0040	0.0039	0.0060	0.0058	0.0007	0.0046	0.0040	0.0167	0	0.0034	0	0.0065	0.0058	0.0009	1.0	0.00964	T	1.0	0.01155	T	0.006	0.13644	B	0.001	0.04355	B	.	.	.	.	1	0.08975	N	-1.95	0.00216	N	3.21	0.07125	T	2.33	0.00281	N	0.135	0.13626	-0.9701	0.37179	T	0.004	0.01192	T	9	0.007198304	0.00164	T	0.001392	0.02037	T	0.037	0.09474	.	.	0.0551355673512	0.04727	0.01625044036325455	0.01581	0.0377257243875	0.04003	0.367868036032	0.20526	T	0.001518	0.00960	T	-0.317262	0.07125	T	-0.693502	0.06189	T	0.0285097912318382	0.01763	T	0.546745	0.18722	T	0.02994329	0.02572	0.07247944	0.15643	0.02994329	0.02571	0.07247944	0.15643	0.193	0.00287	T	.	.	0.170	0.37858	B	.;.;.;.;.	.;.;.;.;.	-0.728011	0.01257	0.065	0.19729777939393434	0.00679	0.00146	0.00887	N	AEFBI	0.037813	0.05257	N	-1.85953321941803	0.00415	0.01785339	-1.83605549207893	0.00650	0.02892496	0.00254255846094499	0.09519	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.4	-4.8	0.02957	-2.888000	0.00778	.	.	-0.886000	0.02417	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.1614:0.2539:0.5847:0.0	7.921	0.29006	982	0.03397	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;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	.	.	.	.	.	.	.	.	0.02632	603.33	35	chr19	57926286	.	A	G	603.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.21;DP=727;ExcessHet=0;FS=0.92;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.66;MQRankSum=-3.565;QD=5.54;ReadPosRankSum=-3.925;SOR=0.882	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,21:109:99:0|1:57926261_T_A:617,0,3632:57926261	18	0	1	0
chr19	57926289	57926297	GTTTCAGCA	-	exonic	ZNF418	.	nonframeshift deletion	ZNF418:NM_001317030:exon2:c.1629_1637del:p.A544_T546del,ZNF418:NM_133460:exon4:c.1884_1892del:p.A629_T631del,ZNF418:NM_001317027:exon5:c.1947_1955del:p.A650_T652del,ZNF418:NM_001317028:exon5:c.1887_1895del:p.A630_T632del,ZNF418:NM_001317029:exon5:c.1884_1892del:p.A629_T631del	.	427	1080	14	0	1	15	0.00643974	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0003	0	0	0	0	0.0005	0	0	0.0001153	3	26028	rs768837080	0.0005	0.0021	0.0005	0.0005	0.0012	0.0005	0.0005	0.0006	0.0004	0.0001	0.0003	0.0026	0	0.0010	0.0012	0.0005	0.0009	0	0.0035	0.0074	0.0035	0.0035	0.0053	0.0032	0.0031	0.0048	0.0046	0.0006	0.0034	0.0033	0.0136	0	0.0029	0	0.0053	0.0043	0.0008	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	384.29	35	chr19	57926288	.	GGTTTCAGCA	G	384.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=4.36;DP=725;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.65;MQRankSum=-4.154;QD=3.59;ReadPosRankSum=-4.506;SOR=0.672	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:91,16:107:99:0|1:57926261_T_A:398,0,3773:57926261	18	0	1	0
chr19	57926301	57926301	G	A	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.C1625T:p.S542F,ZNF418:NM_133460:exon4:c.C1880T:p.S627F,ZNF418:NM_001317027:exon5:c.C1943T:p.S648F,ZNF418:NM_001317028:exon5:c.C1883T:p.S628F,ZNF418:NM_001317029:exon5:c.C1880T:p.S627F	.	430	1079	12	0	1	13	0.00552995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.016	0.00390540273441	.	.	0.0002	0	0	0	0	0.0004	0	0	0.0001153	3	26028	rs771847469	0.0004	0.0020	0.0004	0.0004	0.0009	0.0004	0.0004	0.0004	0.0004	0.0001	0.0002	0.0021	0	0.0008	0.0009	0.0004	0.0008	1.161e-05	0.0031	0.0071	0.0031	0.0031	0.0047	0.0028	0.0028	0.0042	0.0041	0.0005	0.0034	0.0031	0.0130	0	0.0026	0	0.0047	0.0043	0.0006	0.283	0.15354	T	0.147	0.47828	T	0.99	0.63424	D	0.787	0.57594	P	.	.	.	.	1	0.08975	N	2.325	0.66631	M	2.15	0.19311	T	-2.78	0.58896	D	0.344	0.39861	-1.0651	0.10526	T	0.073	0.29675	T	9	0.019309342	0.00429	T	0.003905	0.09180	T	0.016	0.02506	.	.	0.276898752692	0.27294	0.024252981284365444	0.02376	0.0289499722451	0.02984	0.366685032845	0.20354	T	0.021685	0.16847	T	-0.228408	0.16858	T	-0.565869	0.15830	T	0.615540385246277	0.37024	D	0.49655	0.18153	T	0.10927151	0.25835	0.1288796	0.30998	0.10927151	0.25835	0.1288796	0.30997	-6.036	0.46580	T	.	.	0.255	0.50609	B	.;.;.;.;.	.;.;.;.;.	2.140614	0.27259	17.40	0.79716995808412361	0.12868	0.08643	0.14543	N	AEFBI	0.106608	0.21265	N	-0.329544032596889	0.28031	1.542745	-0.565126425660344	0.20405	1.099201	1.72760614122142E-5	0.02871	0.460665	0.09802	0	0.588066	0.40923	0	0.575934	0.27490	0	0.528226	0.09195	0	.	.	2.4	1.29	0.20717	-0.106000	0.10860	.	.	0.505000	0.23025	0.000000	0.06391	0.000000	0.08366	0.036000	0.13842	0.0:0.3851:0.4105:0.2044	5.481	0.16017	982	0.03397	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;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	.	.	.	.	.	.	.	.	0.02632	351.33	35	chr19	57926301	.	G	A	351.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=5.42;DP=721;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.64;MQRankSum=-4.22;QD=3.41;ReadPosRankSum=-4.294;SOR=0.818	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:88,15:103:99:0|1:57926261_T_A:365,0,3650:57926261	18	0	1	0
chr19	57926315	57926315	G	T	exonic	ZNF418	.	nonsynonymous SNV	ZNF418:NM_001317030:exon2:c.C1611A:p.S537R,ZNF418:NM_133460:exon4:c.C1866A:p.S622R,ZNF418:NM_001317027:exon5:c.C1929A:p.S643R,ZNF418:NM_001317028:exon5:c.C1869A:p.S623R,ZNF418:NM_001317029:exon5:c.C1866A:p.S622R	.	431	1076	6	0	9	15	0.00278035	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.063	0.00412266712195	.	.	5.788e-05	0	0	0	0	0.0001	0	0	9.7e-05	15	154602	rs7245442	2.681e-05	0.0014	3.283e-05	2.073e-05	5.979e-05	2.007e-05	1.763e-05	1.635e-05	1.389e-05	5.979e-05	2.251e-05	0.0002	0	5.655e-05	0	2.35e-05	3.338e-05	0	0.0007	0.0039	0.0007	0.0007	0.0009	0.0006	0.0005	0.0007	0.0007	0.0001	0.0023	0.0009	0.0033	0	0.0008	0	0.0009	0.0010	0	0.25	0.18122	T	0.135	0.34716	T	0.911	0.50336	P	0.395	0.44317	B	.	.	.	.	1	0.08975	N	1.46	0.36832	L	3.2	0.07236	T	-2.83	0.59710	D	0.256	0.30914	-1.0202	0.23649	T	0.016	0.06425	T	9	0.036218226	0.01909	T	0.004123	0.09869	T	0.063	0.18251	0.31	0.28289	0.18995819373	0.18626	0.026930070384032563	0.02643	0.22658052965	0.25209	0.293004572392	0.09361	T	0.009437	0.08594	T	-0.561241	0.00249	T	-0.675211	0.07279	T	0.341226549971076	0.26672	T	0.111589	0.00840	T	0.14615527	0.33471	0.13731952	0.32827	0.14615527	0.33471	0.13731952	0.32826	-4.377	0.29244	T	.	.	0.257	0.49177	B	.;.;.;.;.	.;.;.;.;.	0.033730	0.04519	1.219	0.97486411957214891	0.34219	0.00920	0.03580	N	AEFBI	0.060836	0.11589	N	-1.32887122342335	0.03349	0.1494479	-1.54508096714278	0.02010	0.09184178	2.06913856637791E-4	0.05948	0.67177	0.52595	0	0.588066	0.40923	0	0.702456	0.68683	0	0.528226	0.09195	0	.	.	2.08	-2.83	0.05425	-4.687000	0.00229	.	.	-2.603000	0.00234	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.2442:0.1737:0.4107:0.1713	1.592	0.02495	982	0.03397	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;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	.	.	.	.	.	.	.	.	0.02632	144.33	35	chr19	57926315	.	G	T	144.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=3.77;DP=715;ExcessHet=0;FS=2.807;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=59.62;MQRankSum=-5.142;QD=1.49;ReadPosRankSum=-4.379;SOR=1.042	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:87,10:97:99:0|1:57926261_T_A:158,0,3588:57926261	18	0	1	0
chr19	57979081	57979081	C	A	exonic	ZNF606	.	nonsynonymous SNV	ZNF606:NM_001348023:exon6:c.G1329T:p.M443I,ZNF606:NM_001348024:exon6:c.G1329T:p.M443I,ZNF606:NM_001348022:exon7:c.G1599T:p.M533I,ZNF606:NM_001348025:exon7:c.G1125T:p.M375I,ZNF606:NM_025027:exon7:c.G1599T:p.M533I	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.267	0.00220735139963	.	.	.	.	.	.	.	.	.	.	.	.	.	rs758537967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.0	0.00964	T	1.0	0.01155	T	0.032	0.20242	B	0.02	0.19048	B	0.000016	0.62929	D	0.000000	0.620641	0.32702	D	-1.085	0.01025	N	5.48	0.00939	T	0.67	0.02263	N	0.243	0.27435	-0.9690	0.37407	T	0.001	0.00438	T	10	0.055755317	0.06145	T	0.002207	0.04178	T	0.267	0.58126	0.459	0.52590	0.201204373187	0.19734	0.0742230664662008	0.07359	0.772036083369	0.64816	0.841368913651	0.88303	D	0.009396	0.08559	T	-0.141997	0.29572	T	-0.441745	0.28612	T	0.584000706672668	0.35772	D	0.533947	0.17813	T	0.23049799	0.45806	0.17751157	0.40358	0.23049799	0.45806	0.17751157	0.40357	0.216	0.00281	T	.	.	0.738	0.74557	P	.	.	2.217844	0.28299	17.75	0.81152909122954719	0.13545	0.00023	0.00238	N	AEFDBHCI	0.090160	0.18271	N	-0.7818342535366	0.13782	0.6815617	-0.553108452961092	0.20723	1.117824	0.00775812414055072	0.11537	0.556989	0.30585	1	0.588066	0.40923	0	0.608884	0.39905	0	0.297325	0.05528	3	.	.	4.71	3.6	0.40374	0.076000	0.14570	.	.	0.507000	0.23093	0.009000	0.18154	0.001000	0.17328	0.999000	0.91618	0.0:0.7444:0.2556:0.0	13.125	0.58766	976	0.04745	Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type|Zinc finger C2H2-type	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	694.33	36	chr19	57979081	.	C	A	694.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.048;DP=701;ExcessHet=0;FS=0.818;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=7.55;ReadPosRankSum=-1.344;SOR=0.664	GT:AD:DP:GQ:PL	0/1:59,33:92:99:708,0,1460	18	0	1	0
chr20	2865421	2865421	G	A	exonic	VPS16	.	nonsynonymous SNV	VPS16:NM_080413:exon18:c.G1765A:p.A589T,VPS16:NM_022575:exon22:c.G2197A:p.A733T	.	427	1093	2	0	0	2	0.000914077	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0120488276617	.	0.000199681	6.63e-05	0	0	0.0002	0.0002	1.508e-05	0.0022	0.0001	5.82e-05	9	154602	rs529582383	3.831e-05	3.831e-05	2.314e-05	5.363e-05	0.0007	3.025e-05	2.719e-05	0.0002	0.0001	2.987e-05	2.236e-05	0	0.0002	0	0.0007	1.259e-05	9.934e-05	0.0003	7.876e-05	7.873e-05	5.139e-05	0.0001	0.0010	4.492e-05	3.509e-05	0.0004	0.0003	2.405e-05	0	0	0	0.0008	0	0	1.47e-05	0.0005	0.0010	0.304	0.14303	T	0.339	0.18071	T	0.995	0.67487	D	0.903	0.64103	P	0.000000	0.84330	D	0.049358	1	0.81001	D	1.66	0.42513	L	0.96	0.42888	T	-0.93	0.39503	N	0.7	0.71232	-0.8245	0.53651	T	0.210	0.56933	T	10	0.36082017	0.52717	T	0.012049	0.30270	T	0.123	0.34020	0.674	0.81200	0.494433119893	0.49078	0.6441469812253703	0.64349	0.73719295691	0.63037	0.489508867264	0.37370	T	0.074577	0.34972	T	-0.264995	0.12321	T	-0.326275	0.41882	T	0.133033378778139	0.15660	T	0.952205	0.81731	D	0.3167183	0.54361	0.23870814	0.49200	0.3167183	0.54361	0.23870814	0.49199	-7.755	0.59389	D	.	.	0.193	0.41264	B	.;.	.;.	4.807511	0.78178	26.8	0.99846071452540563	0.92576	0.89557	0.50097	D	AEFDBCI	0.606754	0.59698	D	0.536378530525652	0.69258	5.33131	0.591081021750271	0.74299	6.113425	0.9987682253811	0.37623	0.706298	0.61202	0	0.724815	0.89359	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	5.64	5.64	0.86480	4.870000	0.62730	9.932000	0.82588	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.995000	0.73285	0.0:0.0:1.0:0.0	17.198	0.86778	480	0.77422	Vps16, C-terminal;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1437.33	35	chr20	2865421	.	G	A	1437.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.303;DP=759;ExcessHet=0;FS=0.711;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.18;ReadPosRankSum=0.816;SOR=0.806	GT:AD:DP:GQ:PL	0/1:61,57:118:99:1451,0,1647	18	0	1	0
chr20	3803192	3803192	G	C	exonic	CDC25B	.	nonsynonymous SNV	CDC25B:NM_001287524:exon9:c.G766C:p.G256R,CDC25B:NM_001287518:exon12:c.G1069C:p.G357R,CDC25B:NM_001287522:exon12:c.G883C:p.G295R,CDC25B:NM_021872:exon12:c.G1219C:p.G407R,CDC25B:NM_001287516:exon13:c.G1150C:p.G384R,CDC25B:NM_001287517:exon13:c.G1108C:p.G370R,CDC25B:NM_001287519:exon13:c.G1006C:p.G336R,CDC25B:NM_001287520:exon13:c.G1006C:p.G336R,CDC25B:NM_004358:exon13:c.G1300C:p.G434R,CDC25B:NM_021873:exon13:c.G1342C:p.G448R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.774	0.123202022054	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0006	0.0011	0.0007	0.0006	0.0008	0.0006	0.0006	0.0007	0.0007	0.0006	0	0.0002	7.607e-05	0	0.0002	0.0008	0.0004	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.002	0.79402	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	3.085	0.87354	M	1.81	0.25182	T	-7.58	0.95276	D	0.931	0.98268	-0.6717	0.61752	T	0.200	0.55640	T	10	0.98157537	0.98189	D	0.123202	0.80433	D	0.774	0.92419	0.92	0.98568	0.736929849786	0.73457	0.9132364924811667	0.91297	2.14713465814	0.95289	0.696103453636	0.66582	T	0.201973	0.83660	T	0.280949	0.81396	D	0.165788	0.81157	D	0.999002754688263	0.95858	D	0.989968	0.96869	D	0.92810935	0.94047	0.8602535	0.92196	0.92810935	0.94048	0.8602535	0.92197	-11.248	0.81537	D	.	.	0.994	0.95995	P	.;.;.;.;.	.;.;.;.;.	5.603180	0.92472	32	0.99900572155913103	0.97275	0.97177	0.73143	D	AEFGBCI	0.864053	0.78274	D	0.851518238386656	0.89196	9.872593	0.791774268680612	0.89217	9.884684	0.999999999996727	0.74766	0.706548	0.73137	0	0.696144	0.67643	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.24	5.24	0.72863	7.420000	0.79394	11.730000	0.94979	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.879000	0.42020	0.0:0.0:1.0:0.0	16.698	0.85199	809	0.43032	Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;Rhodanese-like domain|Rhodanese-like domain|Rhodanese-like domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4118	3174.68	176	chr20	3803192	.	G	C	3174.68	.	AC=14;AF=0.412;AN=34;BaseQRankSum=-1.235;DP=2216;ExcessHet=17.0548;FS=208.448;InbreedingCoeff=-0.6531;MLEAC=15;MLEAF=0.441;MQ=60;MQRankSum=0;QD=2.1;ReadPosRankSum=2.04;SOR=13.387	GT:AD:DP:GQ:PL	0/1:54,44:101:99:390,0,744	3	0	14	2
chr20	17975788	17975788	A	G	exonic	MGME1	.	nonsynonymous SNV	MGME1:NM_001363738:exon3:c.A376G:p.I126V,MGME1:NM_052865:exon3:c.A616G:p.I206V,MGME1:NM_001310338:exon4:c.A661G:p.I221V	Mitochondrial DNA depletion syndrome 11, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.005	0.00764950922908	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1466690078	1.437e-05	1.437e-05	1.497e-05	1.375e-05	7.557e-05	9.23e-06	7.84e-06	2.003e-05	1.055e-05	0	0	0	7.557e-05	0	0	1.529e-05	1.656e-05	0	1.314e-05	1.313e-05	2.569e-05	0	2.94e-05	2.18e-06	8.2e-07	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0	0.593	0.05936	T	0.43	0.15255	T	0.003	0.11197	B	0.005	0.11217	B	0.010588	0.29863	N	0.378729	1	0.20887	N	0.64	0.16041	N	1.01	0.41058	T	-0.19	0.12099	N	0.059	0.03069	-1.0567	0.12595	T	0.037	0.15943	T	10	0.03745523	0.02101	T	0.00765	0.20299	T	0.005	0.00259	0.358	0.36060	0.222439326576	0.21863	0.2734044307972881	0.27253	0.0724592716056	0.08123	0.274040579796	0.06675	T	0.091908	0.54583	T	-0.354175	0.04470	T	-0.746525	0.03623	T	0.0312517489766172	0.02186	T	0.665033	0.27384	T	0.079684995	0.18217	0.05222864	0.08564	0.079684995	0.18217	0.05222864	0.08564	-4.015	0.24027	T	0.10130178131428147	0.07572	0.068	0.04238	B	.;.	.;.	0.319446	0.06938	3.486	0.61784522800597175	0.06796	0.06149	0.12130	N	AEFBI	0.048654	0.08324	N	-1.40697241427717	0.02577	0.113978	-1.37087397813362	0.03566	0.1665911	0.999733983842303	0.42341	0.722319	0.85440	0	0.698795	0.70079	0	0.702456	0.68683	0	0.714379	0.83352	0	.	.	5.49	-2.63	0.05775	-0.975000	0.03900	-0.246000	0.10547	-0.576000	0.04747	0.000000	0.06391	0.000000	0.08366	0.777000	0.36790	0.2236:0.1114:0.4817:0.1833	4.022	0.09158	782	0.47442	PD-(D/E)XK endonuclease-like domain, AddAB-type;PD-(D/E)XK endonuclease-like domain, AddAB-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	.	.	.	.	.	.	.	.	0.02632	1015.33	33	chr20	17975788	.	A	G	1015.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.6;DP=716;ExcessHet=0;FS=0.806;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.54;ReadPosRankSum=-1.391;SOR=0.866	GT:AD:DP:GQ:PL	0/1:42,46:88:99:1029,0,1034	18	0	1	0
chr20	18414461	18414461	G	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.C610A:p.H204N,DZANK1:NM_001099407:exon12:c.C1129A:p.H377N,DZANK1:NM_001351683:exon12:c.C1213A:p.H405N,DZANK1:NM_001351684:exon12:c.C1186A:p.H396N,DZANK1:NM_001367611:exon12:c.C1129A:p.H377N,DZANK1:NM_001367612:exon12:c.C1144A:p.H382N,DZANK1:NM_001367613:exon12:c.C1144A:p.H382N,DZANK1:NM_001367614:exon12:c.C1186A:p.H396N,DZANK1:NM_001367617:exon12:c.C1186A:p.H396N,DZANK1:NM_001367618:exon12:c.C1186A:p.H396N,DZANK1:NM_001367619:exon13:c.C787A:p.H263N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.052	.	.	0.00379393	0.0024	0	0	0	0	0	0.0024	0.0164	0.0017594	272	154602	rs149741633	0.0010	0.0010	0.0005	0.0015	0.0163	0.0010	0.0010	0.0156	0.0153	0	4.48e-05	0	0	0	0.0010	1.799e-05	0.0010	0.0163	0.0005	0.0005	0.0003	0.0008	0.0163	0.0004	0.0004	0.0134	0.0124	0	0	6.531e-05	0	0.0002	0	0	0	0	0.0163	0.04	0.42199	D	0.175	0.33330	T	0.027	0.19556	B	0.023	0.19966	B	0.043827	0.23700	N	0.517266	0.921283	0.27287	N	1.565	0.39561	L	-0.04	0.63240	T	-2.28	0.50830	N	0.321	0.46086	-0.9162	0.46063	T	0.152	0.48135	T	10	0.0038963854	0.00074	T	.	.	.	0.052	0.14661	0.404	0.43573	0.363751660372	0.35992	0.28379595700605925	0.28292	0.080610085718	0.09072	0.352972835302	0.18358	T	0.005197	0.24667	T	-0.469576	0.00855	T	-0.434316	0.29446	T	0.0343076124340056	0.02689	T	0.89801	0.64352	D	0.33601317	0.55960	0.22845569	0.47887	0.33601317	0.55960	0.22845569	0.47886	-8.62	0.65222	D	.	.	0.109	0.23290	B	.;.;.;.	.;.;.;.	2.822975	0.37193	20.4	0.97147675471940576	0.32573	0.88689	0.48736	D	AEFDBI	0.255532	0.37463	N	-0.173431898017422	0.34243	1.952231	-0.0890796437538329	0.35839	2.078346	0.00164215277638661	0.08740	0.653281	0.48532	0	0.624146	0.53433	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.82	1.21	0.20240	1.853000	0.38998	3.244000	0.36984	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.994000	0.71098	0.2672:0.0:0.7328:0.0	12.514	0.55366	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.000504	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1519.33	40	chr20	18414461	.	G	T	1519.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.35;DP=775;ExcessHet=0;FS=0.658;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.6;ReadPosRankSum=1.11;SOR=0.779	GT:AD:DP:GQ:PL	0/1:70,61:131:99:1533,0,1662	18	0	1	0
chr20	18414509	18414509	C	T	exonic	DZANK1	.	nonsynonymous SNV	DZANK1:NM_018152:exon11:c.G562A:p.G188S,DZANK1:NM_001099407:exon12:c.G1081A:p.G361S,DZANK1:NM_001351683:exon12:c.G1165A:p.G389S,DZANK1:NM_001351684:exon12:c.G1138A:p.G380S,DZANK1:NM_001367611:exon12:c.G1081A:p.G361S,DZANK1:NM_001367612:exon12:c.G1096A:p.G366S,DZANK1:NM_001367613:exon12:c.G1096A:p.G366S,DZANK1:NM_001367614:exon12:c.G1138A:p.G380S,DZANK1:NM_001367617:exon12:c.G1138A:p.G380S,DZANK1:NM_001367618:exon12:c.G1138A:p.G380S,DZANK1:NM_001367619:exon13:c.G739A:p.G247S	.	435	1063	24	0	0	24	0.0111628	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.100	.	0.0029	0.0163738	0.0121	0.0108	0.0031	0.0157	0.0002	0.0030	0.0188	0.0475	0.0071603	1107	154602	rs117387390	0.0040	0.0041	0.0030	0.0051	0.0397	0.0039	0.0039	0.0386	0.0381	0.0052	0.0020	0.0131	0.0170	9.461e-05	0.0102	0.0008	0.0054	0.0397	0.0051	0.0051	0.0046	0.0057	0.0461	0.0048	0.0047	0.0411	0.0392	0.0074	0.0044	0.0035	0.0147	0.0094	0	0.0102	0.0011	0.0057	0.0461	0.657	0.04742	T	0.995	0.03840	T	0.048	0.22112	B	0.007	0.12992	B	0.593465	0.11027	N	0.846150	1	0.08975	N	1.03	0.25572	L	0.03	0.62183	T	-0.52	0.16187	N	0.093	0.07262	-1.0355	0.18700	T	0.084	0.32729	T	10	0.0018946826	0.00026	T	.	.	.	0.100	0.28662	.	.	0.0716867268079	0.06686	0.32981247459072005	0.32894	0.0444781176994	0.04800	0.299264848232	0.10291	T	0.002958	0.19158	T	-0.440485	0.01285	T	-0.375516	0.36245	T	0.00886681408336766	0.00110	T	0.468753	0.13831	T	0.07891306	0.18000	0.079279974	0.17834	0.07891306	0.17999	0.079279974	0.17834	-7.373	0.56714	T	.	.	0.092	0.15115	B	.;.;.;.	.;.;.;.	1.745336	0.22204	15.52	0.77975688133924737	0.12102	0.07701	0.13704	N	AEFBI	0.077546	0.15626	N	-0.956470880121285	0.09548	0.4523762	-0.949479354296899	0.10934	0.5539916	0.00333530487472292	0.10062	0.653281	0.48532	0	0.659037	0.61890	0	0.675528	0.61593	0	0.620846	0.47308	0	.	.	5.94	-2.79	0.05494	0.319000	0.19270	0.529000	0.19232	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.820000	0.38637	0.0:0.4367:0.0:0.5633	12.607	0.55885	665	0.61472	Double zinc ribbon;Double zinc ribbon;Double zinc ribbon;Double zinc ribbon	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.014113	0.000000	0.020380	0.008772	0.000000	0.008621	0.006135	0.022727	0.05263	2187.83	40	chr20	18414509	.	C	T	2187.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.22;DP=773;ExcessHet=0.119;FS=1.31;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.51;ReadPosRankSum=-0.221;SOR=0.587	GT:AD:DP:GQ:PL	0/1:41,48:89:99:1291,0,975	17	0	2	0
chr20	20196636	20196636	G	A	exonic	CFAP61	.	nonsynonymous SNV	CFAP61:NM_015585:exon16:c.G1657A:p.E553K	.	437	1051	34	0	0	34	0.0159176	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.137	.	0.0012	0.00279553	0.0024	0.0004	0.0012	0	0.0003	0.0014	0.0044	0.0105	0.0020892	323	154602	rs116476718	0.0015	0.0015	0.0012	0.0017	0.0107	0.0014	0.0014	0.0101	0.0099	5.974e-05	0.0009	0.0006	2.519e-05	0.0002	0.0094	0.0009	0.0019	0.0107	0.0010	0.0010	0.0010	0.0011	0.0091	0.0009	0.0009	0.0070	0.0062	7.226e-05	0.0175	0.0005	0.0009	0	0.0002	0	0.0012	0.0014	0.0091	0.22	0.18956	T	0.127	0.35082	T	0.861	0.47410	P	0.138	0.33406	B	0.002156	0.37138	N	0.256129	0.997005	0.81001	D	.	.	.	2.9	0.10101	T	-2.15	0.48687	N	0.626	0.64052	-1.0291	0.20746	T	0.026	0.11043	T	10	0.008395076	0.00190	T	.	.	.	0.137	0.36984	.	.	0.286848849266	0.28300	0.5781481004799673	0.57743	0.206687281271	0.23104	.	.	.	0.062483	0.31927	T	-0.448646	0.01150	T	-0.409263	0.32310	T	0.0240949992989467	0.01157	T	0.820918	0.48005	T	0.20001093	0.41961	0.20091796	0.44046	0.20001093	0.41961	0.20091796	0.44045	-8.572	0.64904	D	.	.	0.137	0.29941	B	.	.	4.101623	0.61165	24.3	0.99823540842108671	0.90590	0.86271	0.45519	D	AEFDBCI	0.668236	0.63608	D	0.100793035679368	0.46499	2.889373	0.14371737324171	0.46809	2.920971	0.999966064506883	0.48965	0.487112	0.14033	0	0.59043	0.45803	0	0.547309	0.15389	0	0.564101	0.26826	0	.	.	5.83	4.86	0.62624	4.617000	0.60907	7.501000	0.59489	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.913000	0.44837	0.0:0.1295:0.8705:0.0	16.716	0.85256	705	0.57330	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.007553	0.000000	0.004076	0.002924	0.000000	0.017241	0.012195	0.011364	0.02632	2835.33	34	chr20	20196636	.	G	A	2835.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.5;DP=871;ExcessHet=0;FS=1.007;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.96;ReadPosRankSum=0.856;SOR=0.626	GT:AD:DP:GQ:PL	0/1:121,116:237:99:2849,0,2661	18	0	1	0
chr20	21397128	21397163	GCGGCCGCCGCCGCCGCAGCTGCTGCCGCCGCCGCC	-	exonic	NKX2-4	.	nonframeshift deletion	NKX2-4:NM_033176:exon1:c.237_272del:p.A80_A91del	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0	0	0	.	0	0	0	3.84e-05	1	26028	rs768591128	0.0002	0.0002	0.0002	0.0002	0.0023	0.0002	0.0002	0.0011	0.0008	0.0002	0	0	0	0	0.0023	0.0002	0.0003	0.0005	0.0001	0.0001	0.0001	9.565e-05	0.0004	7.682e-05	6.368e-05	7.29e-05	4.305e-05	0.0001	0	0	0	0	0	0	0.0001	0.0010	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02632	682.29	33	chr20	21397127	.	GGCGGCCGCCGCCGCCGCAGCTGCTGCCGCCGCCGCC	G	682.29	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.413;DP=676;ExcessHet=0;FS=2.699;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=17.06;ReadPosRankSum=0.462;SOR=1.179	GT:AD:DP:GQ:PL	0/1:22,18:40:99:696,0,853	18	0	1	0
chr20	23493054	23493054	A	G	exonic	CST8	.	nonsynonymous SNV	CST8:NM_001281730:exon3:c.A328G:p.N110D,CST8:NM_005492:exon3:c.A328G:p.N110D	.	432	1086	4	0	0	4	0.00183824	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.019	0.00200584022535	0.0002	0.000798722	0.0006	0	0.0002	0	0.0002	0.0006	0	0.0021	0.0005304	82	154602	rs200703356	0.0004	0.0004	0.0003	0.0005	0.0030	0.0004	0.0003	0.0019	0.0018	0	0.0002	0.0010	0	9.387e-05	0.0030	0.0002	0.0007	0.0022	0.0002	0.0002	0.0001	0.0003	0.0025	0.0002	0.0001	0.0014	0.0011	0	0	6.541e-05	0	0	0	0.0102	0.0002	0.0005	0.0025	0.912	0.02442	T	0.712	0.05622	T	0.01	0.15535	B	0.025	0.20508	B	0.738246	0.09798	N	0.875959	1	0.08975	N	0.635	0.15989	N	2.63	0.14038	T	-0.27	0.13226	N	0.172	0.18376	-0.9242	0.44971	T	0.020	0.08313	T	10	0.005273968	0.00115	T	0.002006	0.03615	T	0.019	0.03383	.	.	0.124217242631	0.12060	0.12202034405938092	0.12129	0.00144250031491	0.00121	0.495035260916	0.38137	T	0.039595	0.25243	T	-0.706336	0.00033	T	-0.793855	0.02060	T	0.0121895960997703	0.00196	T	0.307569	0.05925	T	0.065364726	0.13961	0.05466826	0.09447	0.065364726	0.13960	0.05466826	0.09447	-2.849	0.08643	T	.	.	0.090	0.15788	B	.;.	.;.	1.317747	0.17215	13.03	0.24084020744119419	0.01048	0.04365	0.09937	N	AEFBHCI	0.036195	0.04783	N	-1.23948757390638	0.04439	0.2003709	-1.24361823320199	0.05227	0.2485129	8.7921585068858E-5	0.04703	0.487112	0.14033	0	0.547309	0.14657	0	0.573888	0.23631	0	0.564101	0.26826	0	.	.	4.4	0.972	0.18824	1.117000	0.30848	1.928000	0.29753	-0.057000	0.16691	0.030000	0.20431	0.006000	0.19429	0.002000	0.04165	0.6945:0.0:0.3055:0.0	6.210	0.19839	867	0.32089	Cystatin domain|Cystatin domain|Cystatin domain;Cystatin domain|Cystatin domain|Cystatin 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	0.002014	0.005051	0.001359	0.000000	0.000000	0.008621	0.006098	0.000000	0.02632	1032.33	33	chr20	23493054	.	A	G	1032.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.159;DP=760;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.59;ReadPosRankSum=-0.46;SOR=0.764	GT:AD:DP:GQ:PL	0/1:39,43:82:99:1046,0,980	18	0	1	0
chr20	34852409	34852409	G	C	exonic	GGT7	.	nonsynonymous SNV	GGT7:NM_001351702:exon11:c.C1449G:p.D483E,GGT7:NM_178026:exon11:c.C1449G:p.D483E	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.296	0.0112495980913	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.422e-06	6.02e-05	1.362e-06	5.502e-06	2.988e-05	1e-06	7.3e-07	8.4e-07	5.7e-07	2.988e-05	0	0	0	0	0	3.599e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.089	0.32141	T	0.012	0.63918	D	0.994	0.66517	D	0.926	0.66095	D	0.000000	0.84330	D	0.000000	0.999841	0.49770	D	2.215	0.62545	M	1.98	0.21865	T	-1.73	0.41046	N	0.499	0.53181	-1.0404	0.17192	T	0.128	0.43585	T	10	0.5826987	0.65938	D	0.01125	0.28682	T	0.296	0.61616	0.689	0.82653	0.228066490088	0.22430	0.82941257752094	0.82899	0.68760950996	0.60391	0.738000631332	0.72679	T	0.103498	0.41220	T	0.0708259	0.60949	D	-0.13604	0.60460	T	0.885277701002196	0.53559	D	0.910309	0.68205	D	0.41792053	0.61953	0.41181666	0.65402	0.41792053	0.61953	0.41181666	0.65402	-4.579	0.31907	T	.	.	0.782	0.76474	P	.	.	5.638633	0.92727	33	0.99733629509333355	0.82975	0.97405	0.74540	D	AEFDBI	0.720442	0.67100	D	0.820974805350757	0.87399	9.204616	0.835720227276759	0.92153	11.26631	0.92021159446374	0.26625	0.732398	0.92422	0	0.709663	0.81188	0	0.743671	0.96076	0	0.567892	0.33627	0	.	.	6.17	6.17	0.99707	4.488000	0.60028	9.966000	0.82830	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0685:0.0:0.9315:0.0	13.996	0.63912	522	0.74218	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	4376.86	158	chr20	34852409	.	G	C	4376.86	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-3.129;DP=2851;ExcessHet=31.086;FS=291.473;InbreedingCoeff=-0.8095;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.76;ReadPosRankSum=0.306;SOR=13.781	GT:AD:DP:GQ:PL	0/1:65,44:120:99:201,0,1033	2	0	17	0
chr20	35466182	35466182	G	A	exonic	CEP250	.	nonsynonymous SNV	CEP250:NM_007186:exon7:c.G470A:p.S157N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.169	0.0195907131719	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.91e-07	6.842e-07	1.373e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	1.672e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	0.65419	D	0.01	0.72224	D	0.992	0.64738	D	0.948	0.68536	D	0.000307	0.00561	N	3.758110	0.813624	0.28970	N	1.995	0.54099	M	2.85	0.45248	T	-2.39	0.53258	N	0.511	0.54234	-0.7573	0.57551	T	0.292	0.66412	T	10	0.2783443	0.45404	T	0.019591	0.41992	T	0.169	0.43123	0.193	0.10437	0.567064501529	0.56369	0.22593691439536634	0.22508	0.599782747456	0.55084	0.560197114944	0.47296	T	0.036943	0.32516	T	-0.179838	0.23760	T	-0.496102	0.22753	T	0.825030370843214	0.48148	D	0.846915	0.53996	T	0.25235692	0.48250	0.25757244	0.51476	0.25235692	0.48250	0.25757244	0.51476	-3.977	0.23458	T	.	.	0.117	0.38190	B	.;.;.;.	.;.;.;.	3.983217	0.58568	24.0	0.99526756370572023	0.69591	0.82463	0.41687	D	AEFDBHCIJ	0.307806	0.41457	N	0.668227390081113	0.77553	6.696854	0.659302106035942	0.79307	7.054434	0.999998318439002	0.74766	0.706548	0.73137	0	0.577304	0.33150	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.39	5.39	0.77615	2.827000	0.47813	9.971000	0.82862	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.930	0.86057	516	0.74704	.;.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.03571	51.65	121	chr20	35466182	.	G	A	51.65	.	AC=1;AF=0.036;AN=28;BaseQRankSum=-2.165;DP=1361;ExcessHet=0;FS=104.268;InbreedingCoeff=-0.1044;MLEAC=1;MLEAF=0.036;MQ=60;MQRankSum=0;QD=0.56;ReadPosRankSum=0.644;SOR=7.378	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:75,17:92:63:0|1:35466180_G_A:63,0,1861:35466180	13	0	1	5
chr20	41362193	41362193	C	T	exonic	EMILIN3	.	nonsynonymous SNV	EMILIN3:NM_052846:exon4:c.G1376A:p.G459E	.	434	1045	38	4	1	47	0.0215356	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.087	.	0.0016	0.0105831	0.0065	0.0019	0.0178	0.0145	0	0.0021	0.0090	0.0180	0.006203	959	154602	rs2235591	0.0045	0.0045	0.0041	0.0048	0.0321	0.0044	0.0043	0.0306	0.0300	0.0008	0.0178	0.0013	0.0321	0	0.0097	0.0022	0.0056	0.0182	0.0042	0.0042	0.0039	0.0045	0.0199	0.0039	0.0038	0.0168	0.0156	0.0012	0	0.0147	0.0020	0.0199	0	0.0068	0.0021	0.0104	0.0182	1.0	0.00964	T	0.17	0.30436	T	0.883	0.48537	P	0.36	0.43183	B	0.569009	0.11258	N	0.787443	1	0.08975	N	1.78	0.46185	L	2.6	0.13204	T	-1.03	0.27052	N	0.126	0.11912	-1.0395	0.17465	T	0.016	0.06616	T	9	0.0035164952	0.00063	T	.	.	.	0.087	0.25287	.	.	0.274366138417	0.27033	0.4090357898995136	0.40819	0.194200511898	0.21755	0.307287752628	0.11497	T	0.005593	0.05042	T	-0.64763	0.00075	T	-0.688115	0.06498	T	0.0123370872206633	0.00200	T	0.462854	0.13445	T	0.050630543	0.09178	0.059650447	0.11231	0.050630543	0.09177	0.059650447	0.11231	-3.756	0.20149	T	.	.	0.069	0.03231	B	.	.	1.182456	0.15731	12.06	0.88620130383890861	0.18120	0.15972	0.19170	N	AEFDBCI	0.129058	0.24707	N	-0.63572866531942	0.17878	0.9237465	-0.781991029340394	0.14937	0.7830685	0.032117950665719	0.14038	0.646311	0.45356	0	0.59043	0.45803	0	0.645312	0.48771	0	0.613276	0.41899	0	.	.	4.96	0.116	0.13953	0.103000	0.15128	1.404000	0.26222	-0.216000	0.08207	0.000000	0.06391	0.023000	0.20922	0.214000	0.22296	0.1633:0.5833:0.0:0.2535	7.074	0.24370	950	0.11238	.	.	.	.	.	.	Likely benign	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	0.008560	0.000000	0.005435	0.005848	0.000000	0.000000	0.012195	0.022727	0.07895	6236.79	73	chr20	41362193	.	C	T	6236.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.93;DP=1211;ExcessHet=0.3672;FS=0;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=15.21;ReadPosRankSum=0.886;SOR=0.716	GT:AD:DP:GQ:PL	0/1:60,74:134:99:1866,0,1337	16	0	3	0
chr20	41416769	41416769	T	C	exonic	CHD6	.	nonsynonymous SNV	CHD6:NM_032221:exon33:c.A6305G:p.D2102G	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.942	0.337114537755	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.919e-07	6.84e-07	0	1.396e-06	9.077e-07	0	0	.	.	0	0	0	0	0	0	9.077e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.002	0.79402	D	0.976	0.58310	D	0.612	0.51145	P	0.000006	0.62929	D	0.000000	0.999995	0.58761	D	2.85	0.82803	M	-3.17	0.93054	D	-5.6	0.86608	D	0.882	0.88027	0.838	0.94881	D	0.829	0.94245	D	10	0.94815457	0.94145	D	0.337115	0.91913	D	0.942	0.98780	0.779	0.90388	0.955942297982	0.95547	0.7923815222132432	0.79190	0.753774766395	0.63915	0.697189450264	0.66738	T	0.707107	0.91615	D	0.494793	0.94145	D	0.472959	0.94068	D	0.99029666185379	0.80512	D	0.972203	0.89922	D	0.80245364	0.84063	0.8030114	0.88459	0.80245364	0.84064	0.8030114	0.88460	-9.486	0.70772	D	.	.	0.879	0.81404	P	.	.	5.104084	0.85296	28.6	0.99887021260468778	0.96204	0.99365	0.95074	D	AEFDBHI	0.870078	0.79090	D	0.72194309665352	0.81072	7.437139	0.730459916063227	0.84693	8.36323	0.999999918219469	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.635551	0.53088	0	.	.	5.57	5.57	0.84021	8.017000	0.88732	7.900000	0.73503	0.665000	0.62972	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0:0.0:0.0:1.0	16.035	0.80419	937	0.14592	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.02632	2048.33	36	chr20	41416769	.	T	C	2048.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.806;DP=767;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.74;ReadPosRankSum=0.546;SOR=0.705	GT:AD:DP:GQ:PL	0/1:63,76:139:99:2062,0,1682	18	0	1	0
chr20	46350521	46350521	T	C	exonic	SLC35C2	.	nonsynonymous SNV	SLC35C2:NM_001281457:exon10:c.A629G:p.D210G,SLC35C2:NM_001281459:exon10:c.A566G:p.D189G,SLC35C2:NM_015945:exon10:c.A971G:p.D324G,SLC35C2:NM_173073:exon10:c.A908G:p.D303G,SLC35C2:NM_173179:exon10:c.A971G:p.D324G,SLC35C2:NM_001281458:exon11:c.A1058G:p.D353G,SLC35C2:NM_001281460:exon11:c.A971G:p.D324G	.	422	1088	12	0	0	12	0.00548446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.030	0.0086109082072	0.0021	0.00179712	0.0021	0.0003	0.0016	0	0.0018	0.0030	0.0023	0.0011	0.0018758	290	154602	rs143795303	0.0018	0.0018	0.0018	0.0018	0.0053	0.0018	0.0017	0.0038	0.0033	6.192e-05	0.0014	0.0162	0	0.0011	0.0053	0.0016	0.0029	0.0013	0.0015	0.0015	0.0015	0.0015	0.0020	0.0013	0.0013	0.0015	0.0014	0.0001	0	0.0020	0.0179	0	0.0005	0.0102	0.0017	0.0024	0.0002	0.163	0.23450	T	0.378	0.28032	T	0.0	0.02946	B	0.0	0.01387	B	0.006365	0.32080	N	0.257775	0.938683	0.37234	D	1.01	0.25309	L	.	.	.	-1.4	0.34596	N	0.151	0.16586	-0.8973	0.48264	T	0.150	0.47681	T	10	0.0027718544	0.00043	T	0.008611	0.22755	T	0.030	0.07022	.	.	0.151104730317	0.14643	0.38103868468112606	0.38018	0.41808778898	0.42406	0.356770187616	0.18914	T	0.044574	0.26857	T	-0.455216	0.01052	T	-0.432211	0.29685	T	0.00793546066681542	0.00093	T	0.746125	0.37642	T	0.1882468	0.40314	0.08651374	0.20048	0.1882468	0.40314	0.08651374	0.20048	-1.853	0.02672	T	.	.	0.058	0.00693	B	.;.;.;.;.	.;.;.;.;.	2.308493	0.29544	18.16	0.9667532234322993	0.30679	0.63907	0.32236	D	ALL	0.157506	0.28302	N	-0.533987106294768	0.20989	1.110562	-0.377810688370747	0.25660	1.412503	0.999999999999923	0.74766	0.741868	0.97996	0	0.749866	0.99406	0	0.774882	0.98623	0	0.648885	0.59868	0	.	.	4.63	3.54	0.39650	1.369000	0.33832	3.394000	0.38086	0.665000	0.62972	0.924000	0.32081	1.000000	0.68203	0.968000	0.53726	0.0:0.0927:0.0:0.9073	7.909	0.28941	899	0.25060	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.006042	0.000000	0.005435	0.005848	0.000000	0.000000	0.018293	0.003788	0.05263	1428.83	33	chr20	46350521	.	T	C	1428.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=0.009;DP=723;ExcessHet=0.119;FS=1.893;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=14.73;ReadPosRankSum=0.99;SOR=0.479	GT:AD:DP:GQ:PL	0/1:23,32:55:99:897,0,551	17	0	2	0
chr20	47627951	47627951	C	T	exonic	NCOA3	.	nonsynonymous SNV	NCOA3:NM_001174087:exon8:c.C751T:p.R251C,NCOA3:NM_001174088:exon8:c.C751T:p.R251C,NCOA3:NM_006534:exon8:c.C751T:p.R251C,NCOA3:NM_181659:exon8:c.C751T:p.R251C	.	.	.	.	.	.	.	.	.	.	.	2675520	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.346	0.015408985187	.	.	4.12e-05	0	0	0	0	7.494e-05	0	0	4.53e-05	7	154602	rs773805737	0.0001	0.0001	9.803e-05	0.0001	0.0001	8.849e-05	8.334e-05	0.0001	0.0001	2.987e-05	0	0	0	0	0	0.0001	6.624e-05	1.159e-05	5.257e-05	5.25e-05	3.857e-05	6.72e-05	0.0001	2.557e-05	1.83e-05	4.765e-05	3.339e-05	0	0	0	0	0	0	0.0034	0.0001	0	0	0.066	0.36709	T	0.003	0.76473	D	0.969	0.90584	D	0.622	0.75793	P	0.000000	0.84330	D	0.000000	1	0.81001	D	2.485	0.72352	M	4.07	0.03435	T	-6.26	0.90608	D	0.926	0.93252	-1.1768	0.00419	T	0.033	0.14377	T	10	0.81121397	0.80403	D	0.015409	0.36125	T	0.346	0.66769	0.583	0.70990	0.795642183836	0.79373	0.850377765640294	0.84999	0.634968755684	0.57331	0.748650670052	0.74247	T	0.572297	0.85858	D	0.0474887	0.58018	T	0.0221204	0.71767	D	0.746321022510529	0.43081	D	0.978302	0.92360	D	0.46341982	0.64883	0.3479788	0.60444	0.46341982	0.64884	0.3479788	0.60444	-9.349	0.69946	D	.	.	0.957	0.87684	P	.;.;.	.;.;.	4.886045	0.80171	27.3	0.99927685664842103	0.99163	0.96920	0.71664	D	AEFBI	0.613024	0.60088	D	0.406634834652674	0.61787	4.384545	0.429889555261997	0.63436	4.577227	0.999999794296105	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.724815	0.87919	0	0.714379	0.83352	0	.	.	5.73	4.78	0.60666	3.106000	0.50013	5.968000	0.51946	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.2773:0.7227:0.0:0.0	13.880	0.63177	126	0.94940	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.05263	2739.83	40	chr20	47627951	.	C	T	2739.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=-0.008;DP=851;ExcessHet=0.119;FS=1.106;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.77;ReadPosRankSum=1.45;SOR=0.599	GT:AD:DP:GQ:PL	0/1:50,50:100:99:1200,0,1142	17	0	2	0
chr20	51516833	51516833	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1223C:p.G408A,NFATC2:NM_001258292:exon3:c.G1223C:p.G408A,NFATC2:NM_001258294:exon3:c.G626C:p.G209A,NFATC2:NM_001258295:exon3:c.G626C:p.G209A,NFATC2:NM_001258296:exon3:c.G626C:p.G209A,NFATC2:NM_001258297:exon3:c.G626C:p.G209A,NFATC2:NM_012340:exon3:c.G1283C:p.G428A,NFATC2:NM_173091:exon3:c.G1283C:p.G428A	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.869	0.202108400602	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.732e-05	0.0017	0.0001	8.733e-05	0.0001	8.384e-05	7.919e-05	0.0001	9.607e-05	6.032e-05	0	3.84e-05	2.523e-05	0	0	0.0001	6.668e-05	2.326e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.68	0.72568	T	-5.56	0.86296	D	0.901	0.91505	0.381	0.88810	D	0.611	0.86246	D	10	0.8972913	0.89084	D	0.202108	0.86802	D	0.869	0.96059	0.673	0.81101	0.917666431197	0.91683	0.8047902846343375	0.80433	1.22105697637	0.81090	0.817002594471	0.84569	D	0.649316	0.89339	D	0.387933	0.89203	D	0.319463	0.89067	D	0.996825218200684	0.90159	D	0.999309	0.99724	D	0.9031787	0.91670	0.80110663	0.88338	0.9031787	0.91671	0.80110663	0.88339	-12.7	0.88324	D	.	.	0.999	0.99219	P	.;.;.;.;.;.	.;.;.;.;.;.	5.269992	0.88488	29.6	0.99874407340726401	0.95160	0.98728	0.86094	D	AEFDBHI	0.894554	0.83366	D	0.910105444057895	0.92245	11.31442	0.843453264125031	0.92626	11.53706	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.944000	0.48669	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1316	292.43	34	chr20	51516833	.	C	G	292.43	.	AC=5;AF=0.132;AN=38;BaseQRankSum=-3.143;DP=1350;ExcessHet=2.0135;FS=168.437;InbreedingCoeff=-0.1676;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=0.66;ReadPosRankSum=0.884;SOR=9.624	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,19:78:99:0|1:51516833_C_G:199,0,1520:51516833	14	0	5	0
chr20	51516834	51516834	C	G	exonic	NFATC2	.	nonsynonymous SNV	NFATC2:NM_001136021:exon3:c.G1222C:p.G408R,NFATC2:NM_001258292:exon3:c.G1222C:p.G408R,NFATC2:NM_001258294:exon3:c.G625C:p.G209R,NFATC2:NM_001258295:exon3:c.G625C:p.G209R,NFATC2:NM_001258296:exon3:c.G625C:p.G209R,NFATC2:NM_001258297:exon3:c.G625C:p.G209R,NFATC2:NM_012340:exon3:c.G1282C:p.G428R,NFATC2:NM_173091:exon3:c.G1282C:p.G428R	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.887	0.291469148357	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.619e-05	0.0007	0.0001	7.042e-05	0.0001	8.278e-05	7.817e-05	9.981e-05	9.381e-05	6.002e-05	0	0	5.044e-05	0	0	0.0001	0.0001	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.91255	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000000	0.84330	D	0.000000	1	0.81001	D	2.9	0.83903	M	-0.72	0.72994	T	-7.31	0.94511	D	0.952	0.97095	0.381	0.88810	D	0.611	0.86246	D	10	0.92848086	0.92191	D	0.291469	0.90578	D	0.887	0.96725	0.754	0.88402	0.90210233382	0.90113	0.8239515636362394	0.82352	1.30562062205	0.83120	0.866135060787	0.92011	D	0.671936	0.90273	D	0.39566	0.89663	D	0.330562	0.89533	D	0.997253000736237	0.91125	D	0.999394	0.99801	D	0.9024346	0.91602	0.87273586	0.93055	0.9024346	0.91603	0.87273586	0.93056	-12.284	0.86643	D	.	.	1.0	0.99952	P	.;.;.;.;.;.	.;.;.;.;.;.	5.540515	0.91959	32	0.99941663280488358	0.99797	0.98728	0.86094	D	AEFDBHI	0.897828	0.84044	D	0.916431156634983	0.92541	11.483	0.851822094425726	0.93121	11.83822	0.999999999999247	0.74766	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.635551	0.53088	0	.	.	5.25	5.25	0.73169	7.900000	0.86025	7.651000	0.63703	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.964000	0.52637	0.0:1.0:0.0:0.0	18.871	0.92287	957	0.09725	.;Rel homology domain (RHD), DNA-binding domain|Rel homology domain (RHD), DNA-binding domain;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3667	1005.35	57	chr20	51516834	.	C	G	1005.35	.	AC=11;AF=0.367;AN=30;BaseQRankSum=-1.047;DP=1441;ExcessHet=8.9063;FS=279.737;InbreedingCoeff=-0.4889;MLEAC=12;MLEAF=0.4;MQ=60;MQRankSum=0;QD=1.24;ReadPosRankSum=0.596;SOR=11.305	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:59,19:78:99:0|1:51516833_C_G:199,0,1520:51516833	4	0	11	4
chr20	57175004	57175004	T	C	exonic	BMP7	.	nonsynonymous SNV	BMP7:NM_001719:exon5:c.A962G:p.N321S	.	421	1082	17	2	0	21	0.00961098	.	.	.	705564	not_provided|Congenital_total_pulmonary_venous_return_anomaly|BMP7-related_disorder	MedGen:C3661900|Human_Phenotype_Ontology:HP:0005153,Human_Phenotype_Ontology:HP:0005160,Human_Phenotype_Ontology:HP:0005175,MONDO:MONDO:0007130,MedGen:C4551903,OMIM:106700,Orphanet:99125|.	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.176	.	0.0018	0.00758786	0.0059	0.0008	0.0037	0.0003	0	0.0046	0.0051	0.0221	0.0051358	794	154602	rs61733438	0.0037	0.0037	0.0032	0.0041	0.0198	0.0036	0.0035	0.0172	0.0169	0.0011	0.0048	0.0161	5.04e-05	0.0002	0.0198	0.0024	0.0051	0.0179	0.0034	0.0034	0.0031	0.0037	0.0203	0.0032	0.0031	0.0170	0.0158	0.0008	0	0.0084	0.0127	0.0002	9.413e-05	0.0374	0.0028	0.0085	0.0203	0.742	0.08286	T	0.76	0.08900	T	0.0	0.28604	B	0.0	0.27859	B	0.000004	0.62929	N	0.139157	0.999999	0.58761	D	2.3	0.65703	M	-0.92	0.80214	T	-0.87	0.23590	N	0.198	0.21839	-0.8433	0.52426	T	0.174	0.51785	T	10	0.004758686	0.00109	T	.	.	.	0.176	0.44373	.	.	0.733870232206	0.73149	0.5379691657174063	0.53721	0.536218814805	0.50959	0.52202296257	0.41911	T	0.461817	0.79843	T	-0.461241	0.00966	T	-0.42038	0.31031	T	0.00601530324700459	0.00066	T	0.873613	0.58243	D	0.08295598	0.19135	0.05584124	0.09868	0.066140905	0.14201	0.05584124	0.09867	-1.466	0.01696	T	.	.	0.087	0.12797	B	.;.;.	.;.;.	1.185591	0.15766	12.09	0.31205754460880536	0.01746	0.76984	0.37803	D	AEFGBCI	0.388958	0.46837	N	-0.626331477560761	0.18157	0.940369	-0.491525585198468	0.22386	1.215639	0.946058912107186	0.27688	0.706298	0.61202	0	0.491513	0.07743	0	0.709663	0.75317	0	0.613276	0.41899	0	.	.	5.1	4.0	0.45673	3.760000	0.54947	4.215000	0.42557	-0.186000	0.09761	1.000000	0.71638	1.000000	0.68203	0.024000	0.12247	0.0:0.0761:0.0:0.9239	10.598	0.44537	963	0.08280	Transforming growth factor-beta, C-terminal;TGF-beta, propeptide|Transforming growth factor-beta, C-terminal;Transforming growth factor-beta, C-terminal	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	1	0	0.013595	0.005051	0.012228	0.026316	0.000000	0.017241	0.000000	0.018939	0.02632	940.33	41	chr20	57175004	.	T	C	940.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.56;DP=694;ExcessHet=0;FS=0.929;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.03;ReadPosRankSum=1.09;SOR=0.892	GT:AD:DP:GQ:PL	0/1:35,32:67:99:954,0,882	18	0	1	0
chr20	63569517	63569517	C	T	exonic	HELZ2	.	nonsynonymous SNV	HELZ2:NM_001037335:exon5:c.G719A:p.R240H	.	431	1085	5	1	0	7	0.00321543	.	.	.	4149799	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.145	0.0329718144125	7.7e-05	.	0.0002	0	0	0	0	0.0001	0.0016	0.0006	9.7e-05	15	154602	rs377344395	9.81e-05	9.92e-05	7.643e-05	0.0001	0.0007	8.468e-05	7.944e-05	0.0004	0.0004	2.992e-05	0	0	7.597e-05	0	0.0007	7.383e-05	0.0001	0.0005	6.567e-05	6.566e-05	3.852e-05	9.409e-05	0.0008	3.515e-05	2.615e-05	0.0003	0.0002	2.411e-05	0	0	0	0	0	0	7.348e-05	0	0.0008	0.536	0.06891	T	0.583	0.08419	T	0.001	0.07471	B	0.001	0.04355	B	0.187573	0.03227	N	1.629700	1	0.08975	N	0.55	0.14455	N	-1.19	0.78427	T	-0.25	0.11008	N	0.037	0.01135	-0.9820	0.34538	T	0.198	0.55343	T	10	0.038633466	0.02295	T	0.032972	0.54648	D	0.145	0.38592	.	.	0.158396225186	0.15383	0.17771803658209204	0.17690	0.21845120166	0.24383	0.410784900188	0.26565	T	0.018923	0.15168	T	-0.491822	0.00635	T	-0.585664	0.14043	T	0.0264737487001913	0.01470	T	0.550545	0.18982	T	0.026835587	0.01791	0.021635188	0.00208	0.026835587	0.01791	0.021635188	0.00208	-3.506	0.16515	T	.	.	0.073	0.04847	B	.	.	0.180578	0.05683	2.129	0.96469651092321695	0.29932	0.05533	0.11426	N	AEFDGBCI	0.054236	0.09844	N	-1.31014601047634	0.03558	0.1591608	-1.39765545211521	0.03277	0.1525315	0.999889797917292	0.44867	0.700653	0.57754	0	0.694456	0.67091	0	0.717052	0.78885	0	0.683762	0.67416	0	.	.	4.5	-5.22	0.02592	-3.590000	0.00471	-3.694000	0.02600	0.599000	0.40250	0.000000	0.06391	0.000000	0.08366	0.016000	0.10718	0.2476:0.3675:0.1537:0.2313	1.21	0.01787	.	.	.	.	.	.	.	.	Likely benign	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	0.001013	0.005102	0.000000	0.000000	0.000000	0.000000	0.000000	0.003788	0.02632	1430.33	118	chr20	63569517	.	C	T	1430.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.685;DP=1295;ExcessHet=0;FS=1.49;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.33;ReadPosRankSum=1.15;SOR=0.915	GT:AD:DP:GQ:PL	0/1:58,58:116:99:1444,0,2212	18	0	1	0
chr21	15877814	15877814	G	A	exonic	USP25	.	nonsynonymous SNV	USP25:NM_001352560:exon23:c.G2155A:p.A719T,USP25:NM_001352561:exon23:c.G1606A:p.A536T,USP25:NM_013396:exon23:c.G2818A:p.A940T,USP25:NM_001283042:exon24:c.G2914A:p.A972T,USP25:NM_001283041:exon25:c.G3028A:p.A1010T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.204	.	0.0035	0.00379393	0.0017	0.0116	0.0009	0	0	0.0012	0	0	0.0014553	225	154602	rs34979861	0.0009	0.0009	0.0011	0.0008	0.0085	0.0009	0.0009	0.0077	0.0074	0.0085	0.0011	3.838e-05	5.057e-05	3.754e-05	0.0002	0.0009	0.0010	3.503e-05	0.0032	0.0032	0.0033	0.0030	0.0090	0.0029	0.0028	0.0083	0.0080	0.0090	0.0011	0.0028	0	0.0002	0.0002	0	0.0009	0.0009	0	0.084	0.43393	T	0.301	0.36101	T	0.956	0.77913	P	0.207	0.64984	B	0.000000	0.84330	D	0.000000	1	0.81001	D	1.995	0.54099	M	1.82	0.33630	T	-2.6	0.58085	D	0.692	0.77413	-0.8967	0.48322	T	0.147	0.47290	T	10	0.00778684	0.00177	T	.	.	.	0.204	0.49076	.	.	0.452476734342	0.44872	0.45655362566136426	0.45573	0.762233562967	0.64326	0.678966999054	0.64120	T	0.077981	0.35783	T	-0.214048	0.18812	T	-0.0728495	0.65423	T	0.0445578104128414	0.04522	T	0.876612	0.91743	D	0.5209732	0.68315	0.3169283	0.57671	0.5209732	0.68316	0.3169283	0.57670	-8.156	0.62579	D	.	.	0.498	0.65355	A	.;.;.;.	.;.;.;.	4.623822	0.73450	26.0	0.99907913845347573	0.97801	0.99299	0.94153	D	AEFBI	0.870997	0.79220	D	0.702715586896562	0.79811	7.157107	0.740790536902179	0.85466	8.589466	0.999999999996641	0.74766	0.732398	0.92422	0	0.743671	0.97443	0	0.743671	0.96076	0	0.714379	0.83352	0	.	.	5.58	5.58	0.84361	9.572000	0.97338	11.853000	0.98135	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.928000	0.46473	0.0:0.0:1.0:0.0	19.160	0.93514	909	0.22467	.;Ubiquitin specific protease domain;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001517	0.015306	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	339.33	33	chr21	15877814	.	G	A	339.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.31;DP=639;ExcessHet=0;FS=1.345;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=8.28;ReadPosRankSum=-0.206;SOR=1.032	GT:AD:DP:GQ:PL	0/1:27,14:41:99:353,0,636	18	0	1	0
chr21	41918930	41918930	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G58C:p.D20H,C2CD2:NM_015500:exon4:c.G523C:p.D175H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.184	0.0154551292841	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.655e-05	0.0018	8.339e-05	4.965e-05	7.588e-05	5.548e-05	5.15e-05	6.221e-05	5.689e-05	6.157e-05	0	0	2.542e-05	0	0	7.588e-05	0.0001	2.345e-05	0	1.972e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.081	0.39575	T	0.008	0.69154	D	0.991	0.64070	D	0.635	0.51908	P	0.000159	0.49130	D	0.177285	0.997695	0.47157	D	.	.	.	1.75	0.26301	T	-3.35	0.67241	D	0.495	0.52829	-1.0406	0.17132	T	0.094	0.35578	T	10	0.36435574	0.52982	T	0.015455	0.36203	T	0.184	0.45763	0.5	0.59147	0.412715890961	0.40891	0.48026109495753466	0.47946	0.939492545994	0.72166	0.386622190475	0.23192	T	0.11001	0.42436	T	-0.0654905	0.42045	T	-0.331849	0.41263	T	0.957460343837738	0.65017	D	0.80112	0.44691	T	0.13993374	0.32304	0.19344127	0.42913	0.13993374	0.32304	0.19344127	0.42912	-4.866	0.35351	T	.	.	0.297	0.52720	B	.;.	.;.	3.167608	0.42947	21.6	0.98968893955553749	0.49481	0.97817	0.77351	D	AEFGBCI	0.178683	0.30595	N	0.120232727473123	0.47407	2.966873	0.0765168796991302	0.43369	2.640186	0.999806047820681	0.43304	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	4.65	0.57626	2.712000	0.46854	2.536000	0.33191	-0.193000	0.09282	0.998000	0.41325	0.990000	0.31317	0.261000	0.23543	0.0:0.9112:0.0:0.0888	10.542	0.44226	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3889	2032.79	96	chr21	41918930	.	C	G	2032.79	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.78;DP=1565;ExcessHet=17.0548;FS=105.468;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.67;ReadPosRankSum=0.897;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,8:77:46:0|1:41918930_C_G:46,0,2622:41918930	4	0	14	1
chr21	41918931	41918931	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G57C:p.E19D,C2CD2:NM_015500:exon4:c.G522C:p.E174D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.072	0.00492569628037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.451e-05	0.0016	7.555e-05	5.341e-05	7.873e-05	5.358e-05	4.967e-05	6.511e-05	5.999e-05	6.098e-05	0	0	0	0	0	7.873e-05	6.752e-05	1.17e-05	0	1.971e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.236	0.18061	T	0.601	0.07919	T	0.026	0.19406	B	0.018	0.18489	B	0.000050	0.53742	N	0.125982	0.99197	0.25906	N	.	.	.	1.63	0.29342	T	-1.04	0.27259	N	0.215	0.24010	-1.0662	0.10269	T	0.041	0.17530	T	10	0.08271399	0.13680	T	0.004926	0.12380	T	0.072	0.21020	0.35	0.34760	0.220303561663	0.21668	0.1572690006054573	0.15647	0.316597008402	0.33914	0.371157944202	0.20998	T	0.066614	0.32991	T	-0.190454	0.22190	T	-0.51135	0.21176	T	0.0971272264662142	0.12037	T	0.621038	0.23867	T	0.06723062	0.14539	0.068933986	0.14461	0.06723062	0.14538	0.068933986	0.14461	-4.061	0.26403	T	.	.	0.138	0.30076	B	.;.	.;.	-0.008587	0.04225	1.036	0.97585889396706837	0.34764	0.55769	0.29947	D	AEFGBCI	0.075069	0.15065	N	-1.00383072654947	0.08524	0.3999859	-1.03972205038638	0.08921	0.4411397	0.987282828575251	0.31228	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	-3.89	0.03916	-2.263000	0.01256	-2.617000	0.03544	0.599000	0.40250	0.001000	0.13787	0.000000	0.08366	0.255000	0.23391	0.0:0.2473:0.135:0.6177	7.143	0.24745	985	0.02828	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.3889	2022.74	96	chr21	41918931	.	C	G	2022.74	.	AC=14;AF=0.389;AN=36;BaseQRankSum=-2.847;DP=1558;ExcessHet=17.0548;FS=106.404;InbreedingCoeff=-0.6166;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=1.66;ReadPosRankSum=1.13;SOR=10.419	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,8:78:44:0|1:41918930_C_G:44,0,2629:41918930	4	0	14	1
chr21	41918933	41918933	C	G	exonic	C2CD2	.	nonsynonymous SNV	C2CD2:NM_199050:exon3:c.G55C:p.E19Q,C2CD2:NM_015500:exon4:c.G520C:p.E174Q	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.123	0.0219031869935	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478e-05	0.0011	4.439e-05	2.512e-05	4.037e-05	2.676e-05	2.415e-05	3.06e-05	2.725e-05	3.035e-05	0	0	0	0	0	4.037e-05	6.709e-05	1.166e-05	0	6.568e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.094	0.31383	T	0.077	0.42436	T	0.993	0.65571	D	0.796	0.58006	P	0.000050	0.53742	D	0.125982	0.558298	0.35134	D	.	.	.	1.45	0.34050	T	-1.93	0.45404	N	0.445	0.48319	-0.8942	0.48558	T	0.124	0.42799	T	10	0.385596	0.54516	T	0.021903	0.44729	T	0.123	0.34020	0.335	0.32329	0.475272412942	0.47157	0.2669297999209157	0.26605	0.875831749287	0.69562	0.368384510279	0.20599	T	0.169624	0.51706	T	-0.071456	0.41094	T	-0.340418	0.40296	T	0.892000317573547	0.54302	D	0.780422	0.42483	T	0.12762854	0.29860	0.090659045	0.21273	0.12762854	0.29860	0.090659045	0.21273	-4.173	0.26359	T	.	.	0.172	0.37802	B	.;.	.;.	3.657104	0.51934	23.2	0.99734899065078686	0.83047	0.98645	0.85080	D	AEFGBCI	0.411583	0.48200	N	0.342246259245579	0.58331	4.00473	0.324919729865026	0.57008	3.865243	0.999999844603992	0.74766	0.706548	0.73137	0	0.702456	0.74545	0	0.658983	0.55881	0	0.714379	0.83352	0	.	.	5.53	5.53	0.82530	5.201000	0.64999	4.599000	0.43989	0.599000	0.40250	0.989000	0.36753	1.000000	0.68203	0.215000	0.22324	0.0:1.0:0.0:0.0	14.966	0.70847	985	0.02828	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.3684	1945.18	98	chr21	41918933	.	C	G	1945.18	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-3.313;DP=1548;ExcessHet=17.0548;FS=103.494;InbreedingCoeff=-0.5813;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=1.61;ReadPosRankSum=1.16;SOR=10.341	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:70,8:78:44:0|1:41918930_C_G:44,0,2629:41918930	5	0	14	0
chr21	42111559	42111559	C	A	exonic	UMODL1	.	nonsynonymous SNV	UMODL1:NM_001199527:exon11:c.C2121A:p.D707E,UMODL1:NM_173568:exon11:c.C2337A:p.D779E,UMODL1:NM_001004416:exon12:c.C1953A:p.D651E,UMODL1:NM_001199528:exon12:c.C1737A:p.D579E	.	426	1020	74	2	0	78	0.0368272	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.025	.	0.0048	0.00459265	0.0083	0.0012	0.0045	0	0.0023	0.0080	0.0056	0.0233	0.0075549	1168	154602	rs140135030	0.0070	0.0070	0.0063	0.0077	0.0354	0.0069	0.0068	0.0314	0.0299	0.0009	0.0054	0.0232	5.039e-05	0.0014	0.0354	0.0057	0.0088	0.0249	0.0054	0.0054	0.0051	0.0057	0.0188	0.0051	0.0050	0.0157	0.0146	0.0011	0	0.0082	0.0199	0	0.0007	0.0204	0.0067	0.0081	0.0188	0.325	0.27194	T	0.733	0.12142	T	0.187	0.31319	B	0.08	0.28873	B	0.185998	0.03216	N	1.688570	1	0.08975	N	1.5	0.37844	L	-0.53	0.70833	T	-0.8	0.22078	N	0.07	0.12055	-0.9874	0.33249	T	0.137	0.45432	T	10	0.002900362	0.00046	T	.	.	.	0.025	0.05312	0.13	0.03494	0.265010934533	0.26120	0.09560597137393033	0.09492	0.313514092549	0.33644	0.258530199528	0.04717	T	0.004089	0.03502	T	-0.549777	0.00293	T	-0.544907	0.17817	T	0.00342129005796419	0.00036	T	0.59884	0.23175	T	0.059739888	0.12177	0.045058846	0.05978	0.059739888	0.12177	0.045058846	0.05978	-2.767	0.07883	T	.	.	0.147	0.50871	B	.;.;.;.	.;.;.;.	-0.189392	0.03145	0.508	0.76817094624353499	0.11621	0.04875	0.10616	N	AEFDBHCI	0.102208	0.20509	N	-0.986139826949741	0.08899	0.4190532	-1.0491067709566	0.08725	0.4304242	0.996676952249143	0.34917	0.497415	0.19182	0	0.59043	0.45803	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	4.29	0.034	0.13502	-0.668000	0.05369	-1.372000	0.05595	0.518000	0.23583	0.000000	0.06391	0.000000	0.08366	0.004000	0.06068	0.0:0.5592:0.1545:0.2863	5.142	0.14292	981	0.03995	.;.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.032226	0.035354	0.020380	0.023392	0.000000	0.043103	0.039634	0.049242	0.05263	3873.83	42	chr21	42111559	.	C	A	3873.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.54;DP=2344;ExcessHet=0.119;FS=0.9;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.54;ReadPosRankSum=-0.186;SOR=0.619	GT:AD:DP:GQ:PL	0/1:70,74:144:99:2020,0,1766	17	0	2	0
chr21	44539415	44539415	T	C	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.A736G:p.M246V	.	376	1144	2	0	0	2	0.000873362	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.039	.	0.0024	0.0061901	0.0027	0.0049	0.0025	0.0188	0.0003	0.0009	0.0011	0.0013	0.0024062	372	154602	rs147442908	0.0015	0.0015	0.0015	0.0014	0.0239	0.0014	0.0014	0.0226	0.0221	0.0056	0.0027	0.0040	0.0239	0.0002	0.0005	0.0005	0.0021	0.0008	0.0030	0.0030	0.0030	0.0029	0.0181	0.0028	0.0027	0.0151	0.0140	0.0058	0	0.0031	0.0052	0.0181	9.508e-05	0.0068	0.0005	0.0048	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	-2.775	0.00026	N	5.15	0.01198	T	2.07	0.00375	N	0.05	0.02179	-1.0060	0.28156	T	0.006	0.02055	T	9	0.004144132	0.00082	T	.	.	.	0.084	0.24469	.	.	0.117506650769	0.11410	0.029886105557788454	0.02937	0.152316728517	0.17189	0.225969851017	0.01683	T	0.001636	0.01065	T	-0.715362	0.00030	T	-0.786065	0.02275	T	0.0058953990354577	0.00065	T	0.0382962	0.00264	T	0.046574116	0.07817	0.07941723	0.17877	0.046574116	0.07817	0.07941723	0.17877	2.894	0.00023	T	.	.	0.046	0.00054	B	.	.	-1.031802	0.00727	0.022	0.28855652487680794	0.01502	0.00040	0.00335	N	AEFBI	0.017418	0.00455	N	-1.07245889153555	0.07154	0.3314993	-1.06991178548566	0.08298	0.4073496	0.00117747460650372	0.08304	0.487112	0.14033	0	0.573888	0.26702	0	0.578056	0.29568	0	0.542086	0.14980	0	.	.	3.97	2.13	0.26445	-0.586000	0.05880	-6.102000	0.01496	-1.039000	0.01670	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.0:0.7889:0.0:0.2111	8.161	0.30359	970	0.06235	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.001586	0.010101	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.05263	8372.83	102	chr21	44539415	.	T	C	8372.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=1.8;DP=1845;ExcessHet=0.119;FS=12.193;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=58.91;MQRankSum=-4.469;QD=22.81;ReadPosRankSum=0.835;SOR=0.349	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:68,107:175:99:0|1:44539415_T_C:4262,0,2512:44539415	17	0	2	0
chr21	44540050	44540050	A	G	exonic	KRTAP10-1	.	nonsynonymous SNV	KRTAP10-1:NM_198691:exon1:c.T101C:p.L34P	.	394	1111	15	2	0	19	0.00847836	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.092	0.00846627927985	0.0007	0.00139776	0.0003	0.0018	0.0002	0.0002	0	0.0001	0	0.0004	0.0003234	50	154602	rs200714107	0.0002	0.0002	0.0002	0.0002	0.0034	0.0002	0.0001	0.0022	0.0018	0.0016	0.0004	3.83e-05	7.559e-05	3.746e-05	0.0034	7.106e-05	0.0006	0.0004	0.0006	0.0006	0.0005	0.0006	0.0014	0.0005	0.0004	0.0011	0.0010	0.0014	0	0.0008	0	0.0006	0	0	5.885e-05	0.0005	0.0012	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	0.991638	0.41436	D	-3.62	0.00002	N	3.64	0.04309	T	7.96	0.00001	N	0.108	0.09349	-0.9407	0.42505	T	0.002	0.00676	T	9	0.009858936	0.00221	T	0.008466	0.22407	T	0.092	0.26621	.	.	0.128392430309	0.12331	0.027897884915079402	0.02739	0.245867236024	0.27115	0.236011475325	0.02442	T	0.002097	0.01499	T	-0.62718	0.00100	T	-0.680462	0.06956	T	0.0100642158073704	0.00135	T	0.029797	0.00186	T	0.04090728	0.05925	0.11921703	0.28775	0.04090728	0.05925	0.11921703	0.28775	4.206	0.00007	T	.	.	0.034	0.00003	B	.	.	-0.185480	0.03164	0.516	0.85015568218554582	0.15634	0.00140	0.00856	N	AEFBI	0.010431	0.00075	N	-1.67656812146517	0.00928	0.04019491	-1.44471585467828	0.02818	0.1303358	1.59635401701515E-5	0.02871	0.580535	0.33130	0	0.573888	0.26702	0	0.576033	0.28219	0	0.542086	0.14980	0	.	.	3.3	1.46	0.21769	0.412000	0.20852	2.252000	0.31695	-1.486000	0.01052	0.133000	0.23395	0.419000	0.24798	0.002000	0.04165	0.1223:0.0:0.8777:0.0	9.354	0.37320	970	0.06235	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.002114	0.000000	0.002717	0.000000	0.000000	0.000000	0.003049	0.000000	0.07895	6435.79	37	chr21	44540050	.	A	G	6435.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.924;DP=1103;ExcessHet=0.3672;FS=1.739;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=59.86;MQRankSum=-0.951;QD=13.72;ReadPosRankSum=-0.222;SOR=0.568	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:76,70:146:99:1|0:44540035_G_A:1828,0,2743:44540035	16	0	3	0
chr21	44637708	44637723	TGTCTGCTGTGTGCCC	0	exonic	KRTAP10-10	.	.	.	.	451	251	178	15	627	835	0.292958	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3529	24382.0	387	chr21	44637708	.	TGTCTGCTGTGTGCCC	*	24382.0	.	AC=12;AF=0.353;AN=34;BaseQRankSum=2.29;DP=6389;ExcessHet=1.4183;FS=0.542;InbreedingCoeff=-0.0358;MLEAC=13;MLEAF=0.382;MQ=59.94;MQRankSum=0;QD=5.44;ReadPosRankSum=0.634;SOR=0.786	GT:AD:DP:GQ:PL	1/1:0,311:311:99:13838,941,0	7	2	8	2
chr22	18609742	18609742	C	T	exonic	RIMBP3	.	nonsynonymous SNV	RIMBP3:NM_015672:exon1:c.G1693A:p.E565K	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.0048107443556	.	.	.	.	.	.	.	.	.	.	5.17e-05	8	154602	rs1165217004	0.0027	0.0036	0.0028	0.0026	0.0031	0.0026	0.0026	0.0029	0.0029	0.0004	0.0031	0.0005	0	0.0044	0.0010	0.0030	0.0023	0.0004	0.0021	0.0029	0.0020	0.0022	0.0045	0.0019	0.0018	0.0037	0.0034	0.0005	0	0.0045	0.0006	0	0.0038	0	0.0025	0.0052	0.0002	.	.	.	0.14	0.33554	T	.	.	.	.	.	.	0.496902	0.05069	N	1.331580	0.999999	0.08975	N	1.59	0.40313	L	.	.	.	.	.	.	0.103	0.08646	-0.9912	0.32295	T	0.043	0.18326	T	10	0.025805295	0.00764	T	0.004811	0.12035	T	.	.	.	.	0.0611884634855	0.05136	0.12239925407263885	0.12166	.	.	0.776194453239	0.78353	T	0.005727	0.05178	T	-0.24639	0.14545	T	-0.591699	0.13519	T	0.00940495459558463	0.00120	T	0.536546	0.18022	T	0.027816692	0.02027	0.04319381	0.05317	0.027816692	0.02027	0.04319381	0.05317	-5.611	0.42892	T	.	.	0.151	0.33481	B	.	.	1.553386	0.19905	14.50	0.99577941395607461	0.72802	0.01740	0.05491	N	AEFBCI	0.032871	0.03794	N	-0.664091061873501	0.17050	0.8741288	-0.80343147380004	0.14413	0.7529249	0.0826621121700104	0.15906	0.553676	0.25195	0	0.573888	0.26702	0	0.618467	0.43123	0	0.564101	0.26826	0	.	.	2.61	1.56	0.22423	0.652000	0.24573	1.567000	0.27393	0.274000	0.18563	0.000000	0.06391	0.002000	0.18203	0.110000	0.18741	0.0:0.5678:0.2676:0.1646	3.531	0.07335	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	.	.	.	.	.	.	.	.	0.02632	105.33	16	chr22	18609742	.	C	T	105.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1;DP=465;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=33.45;MQRankSum=1.54;QD=2.93;ReadPosRankSum=0.44;SOR=0.954	GT:AD:DP:GQ:PL	0/1:29,7:36:99:119,0,728	18	0	1	0
chr22	18925165	18925165	A	G	exonic	LOC102724788;PRODH	.	nonsynonymous SNV	PRODH:NM_001195226:exon4:c.T229C:p.W77R,LOC102724788:NM_001368249:exon4:c.T553C:p.W185R,LOC102724788:NM_001368250:exon4:c.T229C:p.W77R,PRODH:NM_016335:exon4:c.T553C:p.W185R	.	0	170	630	722	0	2074	0.859155	.	.	.	1159081	Proline_dehydrogenase_deficiency|not_provided	MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.076	.	0.6739	0.78095	0.6417	0.8658	0.6056	0.9683	0.4835	0.5769	0.6024	0.6814	0.02359	614	26028	rs386819653	0.0003	0.0047	0.0004	0.0002	0.0023	0.0002	0.0001	0.0006	0.0003	0	0.0023	0	0	0	0	0.0004	0	0	0	0.0002	0	0	.	0	0	.	.	0	0	0	0	0	0	.	0	0	0	0.503	0.07670	T	0.534	0.09965	T	0.0	0.02946	B	0.0	0.01387	B	0.094139	0.20188	N	0.520350	0.999439	0.21199	P	.	.	.	-0.92	0.75108	T	3.71	0.00075	N	0.033	0.01068	-0.9908	0.32398	T	0.000	0.00011	T	8	1.1503014e-06	0.00003	T	.	.	.	0.124	0.34239	0.323	0.30387	.	.	0.36059814543275515	0.35973	0.483945717353	0.47326	0.248760938644	0.03638	T	0.002583	0.06018	T	-0.601222	0.00143	T	-0.49257	0.23121	T	0.00184463573786778	0.00019	T	0.00685721	0.00048	T	.	.	.	.	.	.	.	.	.	.	.	.	.	0.040	0.00015	B	.;.;.;.;.	.;.;.;.;.	0.485323	0.08545	5.311	0.22177376406136032	0.00880	0.05952	0.11910	N	AEFDBI	0.024100	0.01439	N	-0.980425259653166	0.09021	0.425321	-0.911628502467974	0.11819	0.6044718	0.999452624102034	0.39788	0.722319	0.85440	0	0.627178	0.54094	0	0.698795	0.65105	0	0.613276	0.41899	0	.	.	5.03	2.88	0.32617	3.825000	0.55430	1.457000	0.26651	-2.966000	0.00148	0.770000	0.29357	0.835000	0.27248	0.022000	0.11911	0.1618:0.0:0.6925:0.1458	6.438	0.21037	929	0.16858	.;.;.;.;.	.	.	.	.	rs4819756	Benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	0	0	0	0	1	0	0.686304	0.752525	0.689373	0.602339	0.700000	0.612069	0.704268	0.655303	0.7632	70360.4	209	chr22	18925165	.	A	G	70360.4	.	AC=29;AF=0.763;AN=38;BaseQRankSum=-1.068;DP=3050;ExcessHet=0.1204;FS=0;InbreedingCoeff=0.272;MLEAC=29;MLEAF=0.763;MQ=60;MQRankSum=0;QD=24.25;ReadPosRankSum=0.274;SOR=0.651	GT:AD:DP:GQ:PGT:PID:PL:PS	1/1:0,173:173:99:.:.:5009,519,0:.	2	12	5	0
chr22	19199816	19199816	T	C	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon24:c.A3791G:p.Q1264R,CLTCL1:NM_007098:exon24:c.A3791G:p.Q1264R	.	423	1097	2	0	0	2	0.000910747	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.032	0.00222175952306	0.0002	.	9.791e-05	0.0002	0	0	0	0.0001	0	0.0001	3.23e-05	5	154602	rs367793842	2.424e-05	2.531e-05	2.336e-05	2.513e-05	0.0003	1.76e-05	1.558e-05	6.107e-05	2.527e-05	0	0	0	0	0	0.0003	2.356e-05	5.013e-05	4.841e-05	3.285e-05	3.283e-05	5.137e-05	1.345e-05	4.409e-05	1.261e-05	7.98e-06	1.171e-05	6.25e-06	2.412e-05	0	0	0	0	0	0	4.409e-05	0.0005	0	0.089	0.32141	T	0.165	0.31026	T	0.0	0.02946	B	0.001	0.11217	B	0.000970	0.40836	D	0.187714	0.997783	0.22508	N	0.395	0.12235	N	2.12	0.19726	T	-0.18	0.09796	N	0.211	0.24758	-1.0423	0.16621	T	0.026	0.11131	T	10	0.11344987	0.21313	T	0.002222	0.04206	T	0.032	0.07718	.	.	0.300110245524	0.29617	0.15782156336329756	0.15703	.	.	0.308885157108	0.11739	T	0.031146	0.21906	T	-0.370961	0.03545	T	-0.620343	0.11158	T	0.0669005115026013	0.08209	T	0.805019	0.45619	T	0.0387843	0.05234	0.048736688	0.07301	0.0387843	0.05234	0.048736688	0.07300	-3.667	0.29037	T	0.09426400578020667	0.06290	0.064	0.02458	B	.;.;.;.	.;.;.;.	1.426358	0.18436	13.74	0.97623718490452205	0.34977	0.89192	0.49510	D	AEFBI	0.065904	0.12879	N	-0.476707977124177	0.22846	1.22273	-0.355865444804522	0.26328	1.453505	0.979898118320734	0.30076	0.736574	0.97449	0	0.59043	0.45803	0	0.732669	0.93749	0	0.655142	0.61905	0	.	.	3.85	3.85	0.43556	2.269000	0.43005	1.374000	0.25980	0.609000	0.47794	0.996000	0.39380	0.038000	0.21505	0.078000	0.17132	0.0:0.0928:0.1703:0.7368	5.693	0.17110	758	0.50837	.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	987.33	35	chr22	19199816	.	T	C	987.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.075;DP=722;ExcessHet=0;FS=6.605;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.5;ReadPosRankSum=2.06;SOR=1.187	GT:AD:DP:GQ:PL	0/1:50,44:94:99:1001,0,1270	18	0	1	0
chr22	19275743	19275743	C	A	exonic	CLTCL1	.	nonsynonymous SNV	CLTCL1:NM_001835:exon2:c.G130T:p.V44F,CLTCL1:NM_007098:exon2:c.G130T:p.V44F	.	419	1007	92	4	0	100	0.0473037	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.186	.	0.0060	0.00898562	0.0146	0.0007	0.0087	0	0.0031	0.0116	0.0220	0.0497	0.0099675	1541	154602	rs34869740	0.0080	0.0080	0.0068	0.0092	0.0392	0.0078	0.0078	0.0381	0.0376	0.0008	0.0048	0.0224	2.524e-05	0.0020	0.0312	0.0060	0.0091	0.0392	0.0063	0.0063	0.0061	0.0065	0.0357	0.0059	0.0058	0.0313	0.0296	0.0012	0.0110	0.0042	0.0274	0.0004	0.0015	0.0238	0.0076	0.0133	0.0357	0.035	0.52492	D	0.043	0.64786	D	0.177	0.55854	B	0.325	0.65913	B	0.000108	0.50451	D	0.078972	0.998752	0.45389	D	3.3	0.90472	M	0.98	0.42122	T	-2.53	0.66085	D	0.348	0.38950	-0.7526	0.57799	T	0.181	0.52798	T	10	0.0042898357	0.00086	T	.	.	.	0.186	0.46104	.	.	.	.	0.5550606857815419	0.55433	.	.	0.284310281277	0.08101	T	0.300661	0.67314	T	-0.40804	0.02048	T	-0.330329	0.41431	T	0.106590663868295	0.13067	T	0.980535	0.93576	D	0.22724117	0.45421	0.15075435	0.35541	0.14929381	0.34042	0.15075435	0.35541	-9.455	0.70579	D	0.6859370309383997	0.76300	0.171	0.53603	B	.;.;.	.;.;.	1.874624	0.23810	16.16	0.9936751865389698	0.61283	0.88714	0.48774	D	AEFDBI	0.424985	0.48993	N	-0.167350738109467	0.34498	1.969896	-0.316537505401412	0.27563	1.530398	0.999998934083076	0.74766	0.706298	0.61202	0	0.573888	0.26702	0	0.709663	0.75317	0	0.668105	0.65232	0	.	.	4.07	1.93	0.24985	3.457000	0.52771	0.694000	0.20791	-0.804000	0.03133	1.000000	0.71638	0.809000	0.27020	0.133000	0.19684	0.1561:0.7604:0.0:0.0836	8.231	0.30759	749	0.51929	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.027750	0.005102	0.013587	0.038462	0.000000	0.008621	0.051829	0.049242	0.02632	1608.33	34	chr22	19275743	.	C	A	1608.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.387;DP=738;ExcessHet=0;FS=0.748;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.46;ReadPosRankSum=0.649;SOR=0.676	GT:AD:DP:GQ:PL	0/1:42,62:104:99:1622,0,1017	18	0	1	0
chr22	20779749	20779749	A	T	exonic	SERPIND1	.	nonsynonymous SNV	SERPIND1:NM_000185:exon2:c.A437T:p.N146I	Thrombophilia due to heparin cofactor II deficiency, Autosomal dominant	0	1514	8	0	0	8	0.00263505	.	.	.	3226514	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Likely_benign	.	.	.	.	.	.	.	.	0.364	0.075291750618	.	0.000199681	0.0003	0	8.639e-05	0	0	0.0003	0.0011	0.0007	0.0002199	34	154602	rs202123183	0.0002	0.0002	0.0002	0.0002	0.0016	0.0002	0.0002	0.0008	0.0006	0	4.472e-05	0	0	0	0.0016	0.0002	0.0002	0.0007	0.0001	0.0001	0.0001	0.0001	0.0006	8.161e-05	6.718e-05	0.0002	8.992e-05	2.405e-05	0	6.532e-05	0	0	0	0.0068	0.0002	0.0005	0.0006	0.005	0.63226	D	0.051	0.47828	T	0.033	0.20350	B	0.098	0.30479	B	0.831281	0.06943	N	1.070710	1	0.08975	N	2.645	0.77386	M	-2.37	0.88220	D	-4.2	0.75695	D	0.291	0.32921	-0.1947	0.77808	T	0.650	0.87808	D	10	0.118846685	0.22477	T	0.075292	0.72252	D	0.364	0.68407	.	.	0.725326469919	0.72289	0.5559638039926801	0.55523	0.279714035493	0.30458	0.261275947094	0.05043	T	0.73965	0.92778	D	-0.226175	0.17158	T	-0.201867	0.54470	T	0.123033718491691	0.14724	T	0.510849	0.16306	T	0.34378368	0.56579	0.33984292	0.59744	0.34081054	0.56344	0.29802918	0.55836	-6.816	0.52678	T	0.5866665607633216	0.65347	0.167	0.36850	B	.;.	.;.	0.562653	0.09313	6.093	0.92906638319264323	0.22463	0.21794	0.21526	N	AEFBCI	0.815301	0.73731	D	-1.07210388660278	0.07161	0.3318281	-1.23473058753536	0.05361	0.255236	0.999999998555097	0.74766	0.372202	0.05800	0	0.546412	0.12157	0	0.491513	0.07944	0	0.591603	0.36755	0	.	.	5.59	-7.12	0.01384	0.819000	0.26965	-0.209000	0.10871	-0.054000	0.16847	0.000000	0.06391	0.000000	0.08366	0.471000	0.28363	0.5312:0.082:0.3869:0.0	11.649	0.50537	798	0.45050	Serpin domain|Serpin domain|Heparin cofactor II;Serpin domain|Serpin domain|Heparin cofactor II	.	.	.	.	.	Likely benign	0	0	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	0.002518	0.000000	0.002717	0.000000	0.000000	0.008621	0.006098	0.000000	0.05263	5044.83	38	chr22	20779749	.	A	T	5044.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=2.09;DP=998;ExcessHet=0.119;FS=1.191;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=0.007;SOR=0.628	GT:AD:DP:GQ:PL	0/1:96,85:181:99:2387,0,2443	17	0	2	0
chr22	23311788	23311788	-	CCGG	exonic	BCR	.	frameshift insertion	BCR:NM_021574:exon18:c.3142_3143insCCGG:p.V1050Rfs*17,BCR:NM_004327:exon19:c.3274_3275insCCGG:p.V1094Rfs*17	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	25	583	905	9	0	923	0.441838	.	.	.	1196252	Chronic_myelogenous_leukemia,_BCR-ABL1_positive|not_provided	Human_Phenotype_Ontology:HP:0005506,Human_Phenotype_Ontology:HP:0005544,MONDO:MONDO:0011996,MeSH:D015464,MedGen:C0279543,OMIM:608232,Orphanet:521|MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0012679	33	26028	rs372013175	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.4211	10811.0	92	chr22	23311788	.	T	TCCGG	10811.0	.	AC=16;AF=0.421;AN=38;BaseQRankSum=0.736;DP=1944;ExcessHet=25.4433;FS=20.732;InbreedingCoeff=-0.7273;MLEAC=16;MLEAF=0.421;MQ=55.07;MQRankSum=-7.837;QD=6.32;ReadPosRankSum=-0.502;SOR=2.084	GT:AD:DP:GQ:PL	0/1:106,32:138:99:1008,0,4355	3	0	16	0
chr22	23311830	23311830	G	A	exonic	BCR	.	nonsynonymous SNV	BCR:NM_021574:exon18:c.G3184A:p.D1062N,BCR:NM_004327:exon19:c.G3316A:p.D1106N	Leukemia, acute lymphocytic, somatic;Leukemia, chronic myeloid, somatic	59	994	464	5	0	474	0.192526	.	.	.	247185	not_provided|not_specified	MedGen:C3661900|MedGen:CN169374	criteria_provided,_multiple_submitters,_no_conflicts	Uncertain_significance	.	.	.	.	.	.	.	.	0.231	0.0272677260962	.	.	.	.	.	.	.	.	.	.	.	.	.	rs879255379	3.426e-06	6.156e-06	5.454e-06	1.377e-06	2.994e-05	1e-06	7.3e-07	7.2e-07	2e-07	2.994e-05	2.236e-05	0	0	0	0	2.698e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35726	T	0.018	0.59732	D	0.976	0.58310	D	0.752	0.56092	P	0.000000	0.84330	D	0.000000	1	0.81001	D	0.765	0.19305	N	2.66	0.12575	T	-3.28	0.65627	D	0.843	0.83885	-1.1463	0.01139	T	0.053	0.22423	T	10	0.81994617	0.81205	D	0.027268	0.50098	D	0.231	0.53208	.	.	0.600008996327	0.59681	0.3965005129848048	0.39565	2.73974519172	0.98685	0.815404891968	0.84322	D	0.308497	0.68058	T	-0.175721	0.24374	T	-0.490187	0.23372	T	0.916451156139374	0.57389	D	0.875712	0.89686	D	0.43747994	0.63240	0.3549618	0.61031	0.43747994	0.63240	0.3549618	0.61031	-6.831	0.53477	T	.	.	0.771	0.75988	P	.;.	.;.	5.927754	0.94089	33	0.99910446622876614	0.98022	0.98481	0.83233	D	AEFBI	0.912634	0.87354	D	0.533033419009816	0.69054	5.303049	0.562786706860508	0.72290	5.786788	0.9999990001556	0.74766	0.706298	0.61202	0	0.702456	0.74545	0	0.709663	0.75317	0	0.714379	0.83352	0	.	.	4.49	4.49	0.54177	9.664000	0.97881	6.611000	0.56088	0.671000	0.69459	1.000000	0.71638	1.000000	0.68203	0.953000	0.50222	0.0:0.0:1.0:0.0	16.632	0.84893	940	0.13648	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	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.2632	1588.18	67	chr22	23311830	.	G	A	1588.18	.	AC=10;AF=0.263;AN=38;BaseQRankSum=2.23;DP=1525;ExcessHet=6.9875;FS=13.257;InbreedingCoeff=-0.3449;MLEAC=9;MLEAF=0.237;MQ=57.55;MQRankSum=-9.775;QD=1.61;ReadPosRankSum=-3.64;SOR=2.209	GT:AD:DP:GQ:PL	0/1:106,10:116:53:53,0,2799	9	0	10	0
chr22	31140088	31140088	A	T	exonic	PLA2G3	.	nonsynonymous SNV	PLA2G3:NM_015715:exon1:c.T267A:p.H89Q	.	247	1243	27	5	0	37	0.0146651	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.024	.	0.0042	0.00519169	0.0065	0.0013	0.0020	0.0027	0.0008	0.0066	0.0066	0.0170	0.0060866	941	154602	rs55984643	0.0067	0.0067	0.0064	0.0070	0.0160	0.0066	0.0065	0.0153	0.0150	0.0010	0.0025	0.0049	0.0024	0.0016	0.0136	0.0067	0.0073	0.0160	0.0040	0.0040	0.0042	0.0038	0.0137	0.0037	0.0036	0.0110	0.0101	0.0008	0	0.0021	0.0052	0.0025	0.0012	0.0034	0.0062	0.0038	0.0137	0.473	0.08408	T	0.528	0.10173	T	0.011	0.15914	B	0.003	0.08700	B	0.542083	0.11525	N	0.811223	0.999997	0.08975	N	1.15	0.29295	L	2.91	0.10008	T	-1.48	0.36189	N	0.1	0.08227	-0.9510	0.40799	T	0.010	0.03856	T	10	0.003170222	0.00053	T	.	.	.	0.024	0.04979	0.256	0.19689	0.0846915920261	0.08053	0.20376811032185027	0.20293	0.0691369018457	0.07735	0.280050009489	0.07499	T	0.024555	0.18532	T	-0.679377	0.00048	T	-0.735029	0.04102	T	0.000639412999052918	0.00006	T	0.285571	0.05082	T	0.048105877	0.08330	0.08347583	0.19133	0.048105877	0.08330	0.08347583	0.19133	-2.368	0.04940	T	.	.	0.083	0.09336	B	.	.	-0.908583	0.00912	0.034	0.48977307495182992	0.04132	0.06914	0.12939	N	AEFDBCI	0.054706	0.09970	N	-1.39168245620973	0.02715	0.1202966	-1.44971714329186	0.02772	0.1281381	0.999999117941641	0.74766	0.59774	0.34471	0	0.547309	0.14657	0	0.52208	0.10781	0	0.63947	0.58350	0	.	.	5.69	-5.44	0.02419	-0.398000	0.07320	-1.564000	0.05161	-0.092000	0.16129	0.000000	0.06391	0.000000	0.08366	0.013000	0.09966	0.2343:0.4697:0.2961:0.0	7.825	0.28469	624	0.65661	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.010070	0.000000	0.001359	0.026316	0.000000	0.017241	0.006098	0.015152	0.02632	733.33	33	chr22	31140088	.	A	T	733.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.08;DP=890;ExcessHet=0;FS=3.786;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=13.1;ReadPosRankSum=-0.246;SOR=0.289	GT:AD:DP:GQ:PL	0/1:28,28:56:99:747,0,769	18	0	1	0
chr22	32419367	32419367	T	C	exonic	BPIFC	.	nonsynonymous SNV	BPIFC:NM_174932:exon12:c.A1255G:p.I419V	.	432	1087	3	0	0	3	0.00137804	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.064	0.00264502753675	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.737e-06	2.736e-06	1.362e-06	4.126e-06	0.0003	6.4e-07	4.3e-07	6.094e-05	2.522e-05	0	0	0	0	0	0.0003	8.995e-07	1.656e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.183	0.21718	T	0.07	0.43721	T	0.454	0.36182	P	0.334	0.42203	B	0.009372	0.30392	N	0.336093	1	0.08975	N	2.825	0.82220	M	3.19	0.07353	T	-0.8	0.22078	N	0.22	0.25989	-1.0495	0.14537	T	0.029	0.12541	T	10	0.14368019	0.27276	T	0.002645	0.05377	T	0.064	0.18567	0.604	0.73586	0.238705975628	0.23479	0.4914839234327179	0.49069	0.0606122278648	0.06739	0.359556913376	0.19320	T	0.001742	0.01167	T	-0.22506	0.17308	T	-0.561059	0.16279	T	0.404847860336304	0.29124	T	0.618838	0.23746	T	0.091196485	0.21363	0.08777312	0.20425	0.091196485	0.21363	0.08777312	0.20424	-4.118	0.25555	T	.	.	0.079	0.09917	B	.;.;.	.;.;.	0.881851	0.12550	9.079	0.97852554256670732	0.36405	0.13506	0.17894	N	AEFBI	0.061003	0.11631	N	-0.334492535983296	0.27845	1.531075	-0.391641344099783	0.25245	1.38716	0.0108999405668081	0.12099	0.487112	0.14033	0	0.573888	0.26702	0	0.59043	0.30614	0	0.542086	0.14980	0	.	.	4.87	2.61	0.30255	0.219000	0.17426	0.854000	0.22166	-0.177000	0.10537	0.217000	0.24502	0.007000	0.19602	0.974000	0.55675	0.0:0.0972:0.1795:0.7232	5.192	0.14540	610	0.67008	Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, C-terminal;.;Lipid-binding serum glycoprotein, C-terminal|Lipid-binding serum glycoprotein, 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	.	.	.	.	.	.	.	.	0.02632	592.33	34	chr22	32419367	.	T	C	592.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-2.726;DP=650;ExcessHet=0;FS=1.342;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.59;ReadPosRankSum=0.801;SOR=0.446	GT:AD:DP:GQ:PL	0/1:12,26:38:99:606,0,300	18	0	1	0
chr22	33277139	33277139	C	T	exonic	LARGE1	.	nonsynonymous SNV	LARGE1:NM_001378631:exon8:c.G1088A:p.R363H,LARGE1:NM_001378630:exon10:c.G1391A:p.R464H,LARGE1:NM_001378627:exon13:c.G1847A:p.R616H,LARGE1:NM_001378628:exon13:c.G1847A:p.R616H,LARGE1:NM_001378629:exon13:c.G1838A:p.R613H,LARGE1:NM_001362951:exon14:c.G1994A:p.R665H,LARGE1:NM_001362953:exon14:c.G1994A:p.R665H,LARGE1:NM_001378626:exon14:c.G1994A:p.R665H,LARGE1:NM_133642:exon14:c.G1994A:p.R665H,LARGE1:NM_001362949:exon15:c.G1994A:p.R665H,LARGE1:NM_001378624:exon15:c.G1994A:p.R665H,LARGE1:NM_001378625:exon15:c.G1994A:p.R665H,LARGE1:NM_004737:exon15:c.G1994A:p.R665H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, Autosomal recessive;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, Autosomal recessive	0	1509	13	0	0	13	0.00428901	.	.	.	101071	Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A6|not_provided|not_specified|Muscular_dystrophy-dystroglycanopathy_type_B6	MONDO:MONDO:0013158,MedGen:C3150414,OMIM:613154,Orphanet:588,Orphanet:899|MedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012138,MedGen:C1837229,OMIM:608840,Orphanet:98894	criteria_provided,_multiple_submitters,_no_conflicts	Benign/Likely_benign	.	.	.	.	.	.	.	.	0.149	.	0.0078	0.00239617	0.0050	0.0012	0.0023	0	0.0021	0.0076	0.0022	0.0028	0.0056144	868	154602	rs1046166	0.0096	0.0096	0.0100	0.0093	0.0117	0.0095	0.0094	0.0116	0.0115	0.0019	0.0029	0.0001	0	0.0020	0.0028	0.0117	0.0063	0.0037	0.0060	0.0060	0.0067	0.0052	0.0099	0.0057	0.0055	0.0093	0.0091	0.0023	0.0647	0.0022	0	0.0002	0.0024	0	0.0099	0.0038	0.0029	0.001	0.78490	D	0.004	0.74150	D	1.0	0.90584	D	0.982	0.75477	D	0.000004	0.62929	D	0.102061	0.999822	0.50806	D	.	.	.	1.84	0.50459	T	-3.43	0.68651	D	0.486	0.55886	-0.7856	0.55984	T	0.176	0.52037	T	10	0.008549035	0.00194	T	.	.	.	0.149	0.39377	.	.	0.479604954264	0.47592	0.7054452157539642	0.70486	1.6004500588	0.88685	0.542836546898	0.44846	T	0.762	0.93567	D	-0.355552	0.04388	T	-0.271179	0.47701	T	0.0229300060964148	0.01015	T	0.959004	0.85901	D	0.41365054	0.61666	0.4395907	0.67306	0.484658	0.66182	0.4395907	0.67307	-10.619	0.77528	D	0.38791358202145454	0.48147	0.112	0.41557	B	.;.;.	.;.;.	4.543299	0.71428	25.7	0.99949648034332861	0.99938	0.85569	0.44715	D	AEFBI	0.427590	0.49147	N	0.427473738169047	0.62938	4.518257	0.381065446135033	0.60397	4.22693	0.996023832251556	0.34476	0.706548	0.73137	0	0.724815	0.89359	0	0.702456	0.68683	0	0.620846	0.47308	0	.	.	5.5	3.42	0.38259	2.911000	0.48472	1.062000	0.23729	0.599000	0.40250	1.000000	0.71638	0.988000	0.31051	0.969000	0.54022	0.0:0.7185:0.0:0.2815	8.968	0.35051	869	0.31655	.;.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	1	0	0.000504	0.000000	0.000000	0.002924	0.000000	0.000000	0.003049	0.000000	0.02632	3212.33	34	chr22	33277139	.	C	T	3212.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.286;DP=880;ExcessHet=0;FS=1.498;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.45;ReadPosRankSum=0.151;SOR=0.806	GT:AD:DP:GQ:PL	0/1:122,136:258:99:3226,0,2940	18	0	1	0
chr22	36265782	36265782	G	T	exonic	APOL1	.	stopgain	APOL1:NM_001136541:exon5:c.G892T:p.E298X,APOL1:NM_001362927:exon5:c.G892T:p.E298X,APOL1:NM_001136540:exon6:c.G946T:p.E316X,APOL1:NM_003661:exon6:c.G946T:p.E316X,APOL1:NM_145343:exon7:c.G994T:p.E332X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.617745	0.05738	N	1.200530	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.79	0.78737	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.299787	0.82950	D	0.192847	0.82730	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.;Tolerant;.	.;.;.;High;.	5.111238	0.85445	28.6	0.94747486642744438	0.25445	0.01550	0.05082	N	AEFDBI	0.051060	0.08984	N	-0.28464942149091	0.29742	1.651984	-0.709861734847565	0.16715	0.8855342	0.64071294737418	0.22051	0.706548	0.73137	0	0.724815	0.89359	0	0.547309	0.15389	0	0.567339	0.31927	0	.	.	3.18	-2.28	0.06438	-1.743000	0.01933	-20.000000	0.00162	-0.266000	0.06809	0.000000	0.06391	0.000000	0.08366	0.000000	0.00833	0.4028:0.0:0.402:0.1951	3.413	0.06937	489	0.76795	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1389	3097.37	197	chr22	36265782	.	G	T	3097.37	.	AC=5;AF=0.139;AN=36;BaseQRankSum=-4.003;DP=2840;ExcessHet=1.3;FS=138.063;InbreedingCoeff=-0.171;MLEAC=5;MLEAF=0.139;MQ=60;MQRankSum=0;QD=3.43;ReadPosRankSum=1.24;SOR=11.326	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:139,38:177:99:.:.:450,0,3764:.	13	0	5	1
chr22	36316560	36316560	G	C	exonic	MYH9	.	nonsynonymous SNV	MYH9:NM_002473:exon12:c.C1337G:p.S446C	Deafness, autosomal dominant 17, Autosomal dominant;Epstein syndrome, Autosomal dominant;Fechtner syndrome, Autosomal dominant;Macrothrombocytopenia and progressive sensorineural deafness, Autosomal dominant;May-Hegglin anomaly, Autosomal dominant;Sebastian syndrome, Autosomal dominant	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.692	0.324217944934	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.844e-07	8.688e-05	1.362e-06	0	8.999e-07	0	0	.	.	0	0	0	0	0	0	8.999e-07	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.113	0.36901	T	0.839	0.46454	P	0.211	0.37346	B	0.000000	0.84330	D	0.000000	1	0.81001	D	2.15	0.60148	M	-2.36	0.88143	D	-4.71	0.79915	D	0.878	0.87590	0.426	0.89483	D	0.660	0.88197	D	10	0.9259001	0.91938	D	0.324218	0.91564	D	0.692	0.88820	0.645	0.78224	0.961098647398	0.96068	0.8395035233604805	0.83910	2.00279492732	0.93841	0.889070630074	0.95144	D	0.822647	0.95680	D	0.384396	0.88989	D	0.314382	0.88851	D	0.996383428573608	0.89236	D	0.944506	0.78979	D	0.92190284	0.93432	0.7688183	0.86348	0.92190284	0.93433	0.7688183	0.86349	-11.156	0.80506	D	0.8877937243935591	0.94347	0.351	0.56631	A	.	.	4.590653	0.72606	25.9	0.99319532239500308	0.59317	0.97062	0.72468	D	AEFBHCI	0.962230	0.98376	D	0.558250758971841	0.70586	5.523309	0.579599439697102	0.73481	5.977167	0.999999999999999	0.74766	0.722319	0.85440	0	0.702456	0.74545	0	0.702456	0.68683	0	0.735409	0.98432	0	.	.	5.1	5.1	0.68917	10.003000	0.99689	7.593000	0.61311	0.618000	0.50648	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.0:0.0:1.0:0.0	18.547	0.91003	492	0.76569	Myosin head, motor domain|Myosin head, motor domain|Myosin head, motor 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	.	.	.	.	.	.	.	.	0.07895	539.79	37	chr22	36316560	.	G	C	539.79	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-3.145;DP=1446;ExcessHet=0.3672;FS=307.401;InbreedingCoeff=-0.0857;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=2.13;ReadPosRankSum=1.02;SOR=7.784	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:69,11:80:99:0|1:36316559_G_C:161,0,2814:36316559	16	0	3	0
chr22	37726466	37726466	C	A	exonic	TRIOBP	.	nonsynonymous SNV	TRIOBP:NM_001039141:exon7:c.C3910A:p.R1304S	Deafness, autosomal recessive 28, Autosomal recessive	12	1503	6	0	1	7	0.00199203	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0630658994067	.	.	.	.	.	.	.	.	.	.	.	.	.	rs550274094	2.143e-06	5.472e-06	0	4.334e-06	0.0002	5.7e-07	1.6e-07	.	.	0	0	0	0	0	0.0002	0	1.719e-05	1.241e-05	1.314e-05	1.313e-05	1.285e-05	1.345e-05	0.0004	2.18e-06	8.2e-07	6.823e-05	2.855e-05	0	0	0	0	0.0004	0	0	0	0	0	0.0	0.91255	D	0.288	0.21144	T	1.0	0.90584	D	0.967	0.71530	D	.	.	.	.	0.667469	0.33110	D	1.04	0.26193	L	0.28	0.59037	T	-2.85	0.60029	D	0.652	0.66272	-0.7008	0.60400	T	0.252	0.62223	T	9	0.53869605	0.63595	D	0.063066	0.68850	D	0.248	0.55615	.	.	0.739818014902	0.73748	0.30916848207918823	0.30829	0.386630532738	0.39955	0.733280956745	0.71986	T	0.231116	0.59735	T	-0.125418	0.32240	T	-0.202596	0.54400	T	0.66301017999649	0.39028	D	0.738026	0.35555	T	0.506153	0.67455	0.45054185	0.68025	0.506153	0.67456	0.45054185	0.68025	-6.34	0.49039	T	.	.	0.891	0.82188	P	.;.	.;.	3.964497	0.58165	23.9	0.99811766037908878	0.89531	0.84548	0.43631	D	AEFDBI	0.436405	0.49664	N	0.411215872464132	0.62037	4.413393	0.426874021853534	0.63244	4.554486	0.999992995891553	0.74766	0.634777	0.41761	0	0.61073	0.52368	0	0.643519	0.47002	0	0.584449	0.35598	0	.	.	5.07	5.07	0.68106	2.322000	0.43474	3.929000	0.40522	0.593000	0.32247	1.000000	0.71638	1.000000	0.68203	0.643000	0.32503	0.0:1.0:0.0:0.0	16.290	0.82575	910	0.22284	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0.001021	0.000000	0.002732	0.000000	0.000000	0.000000	0.000000	0.000000	0.02632	288.33	22	chr22	37726466	.	C	A	288.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.553;DP=507;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=12.01;ReadPosRankSum=-0.116;SOR=0.976	GT:AD:DP:GQ:PL	0/1:11,13:24:99:302,0,252	18	0	1	0
chr22	40861735	40861735	C	G	exonic	DNAJB7	.	nonsynonymous SNV	DNAJB7:NM_145174:exon1:c.G260C:p.G87A	.	421	1100	1	0	0	1	0.000454339	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.187	.	.	0.00439297	0.0016	0	8.637e-05	0.0207	0	0	0	0.0010	0.0014683	227	154602	rs141187399	0.0006	0.0006	0.0005	0.0006	0.0164	0.0005	0.0005	0.0154	0.0149	0	4.479e-05	0	0.0164	0	0.0002	8.094e-06	0.0007	0.0015	0.0008	0.0008	0.0007	0.0009	0.0208	0.0007	0.0006	0.0177	0.0165	0	0	6.541e-05	0	0.0208	0	0	1.47e-05	0.0009	0.0017	0.059	0.37536	T	0.077	0.42436	T	0.107	0.26081	B	0.065	0.27321	B	0.145045	0.18158	N	0.477209	0.527657	0.31517	N	2.025	0.55430	M	-0.79	0.73739	T	-3.4	0.67014	D	0.203	0.22486	-0.4857	0.69162	T	0.203	0.55961	T	10	0.0066074133	0.00150	T	.	.	.	0.187	0.46274	.	.	0.930476314975	0.92976	0.4202435528629939	0.41940	0.0180164472936	0.01760	0.249106943607	0.03674	T	0.208156	0.56800	T	-0.453594	0.01075	T	-0.407413	0.32525	T	0.0452882442347557	0.04655	T	0.19528	0.02139	T	0.12542234	0.29403	0.1774933	0.40355	0.12542234	0.29402	0.1774933	0.40354	-7.615	0.58415	D	.	.	0.105	0.19073	B	.	.	1.002031	0.13805	10.36	0.72105323939485821	0.09858	0.27521	0.23301	N	AEFBI	0.095051	0.19209	N	-0.690001154369358	0.16305	0.8295599	-0.708626962299811	0.16745	0.8873194	0.959007647649708	0.28398	0.706298	0.61202	0	0.709663	0.81188	0	0.65145	0.50148	0	0.635551	0.53088	0	.	.	4.7	3.69	0.41483	-0.143000	0.10278	0.224000	0.16109	-0.255000	0.07062	0.000000	0.06391	0.010000	0.20010	0.073000	0.16832	0.0:0.9126:0.0:0.0874	11.570	0.50083	242	0.90534	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1414.33	33	chr22	40861735	.	C	G	1414.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.205;DP=749;ExcessHet=0;FS=0;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.59;ReadPosRankSum=0.664;SOR=0.634	GT:AD:DP:GQ:PL	0/1:64,58:122:99:1428,0,1627	18	0	1	0
chr22	41436852	41436852	G	T	exonic	TOB2	.	nonsynonymous SNV	TOB2:NM_016272:exon2:c.C494A:p.T165N	.	416	1103	3	0	0	3	0.00135808	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.143	0.0144140388169	.	.	2.48e-05	0	0	0	0	4.512e-05	0	0	1.94e-05	3	154602	rs765640014	1.3e-05	1.3e-05	1.633e-05	9.626e-06	0.0003	8.31e-06	6.7e-06	6.092e-05	2.521e-05	0	0	0	0	0	0.0003	1.169e-05	1.656e-05	3.478e-05	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	0.002	0.72154	D	0.155	0.31936	T	0.975	0.58077	D	0.717	0.54739	P	0.000014	0.62929	D	0.115830	0.99976	0.48888	D	2.135	0.59519	M	0.73	0.50721	T	-1.34	0.33401	N	0.377	0.41853	-0.7471	0.58087	T	0.232	0.59769	T	10	0.26691434	0.44200	T	0.014414	0.34508	T	0.143	0.38195	0.18	0.08751	0.198222871337	0.19423	0.5638141198988336	0.56308	1.03443667668	0.75538	0.604209661484	0.53498	T	0.280127	0.65283	T	-0.185173	0.22969	T	-0.322237	0.42329	T	0.481581926345825	0.31955	T	0.939806	0.77272	D	0.32971075	0.55448	0.35554886	0.61080	0.32971075	0.55448	0.35554886	0.61080	-4.13	0.25730	T	.	.	0.311	0.53868	B	.	.	4.374604	0.67375	25.1	0.99239173583235385	0.56469	0.98053	0.79201	D	AEFBCI	0.885971	0.81695	D	0.757652087427888	0.83404	8.008275	0.798160887866802	0.89665	10.070	0.99999999999999	0.74766	0.67177	0.52595	0	0.697927	0.68747	0	0.702456	0.68683	0	0.711	0.71501	0	.	.	6.07	6.07	0.98675	6.831000	0.75116	9.973000	0.82874	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	20.644	0.99572	180	0.92993	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	1533.33	33	chr22	41436852	.	G	T	1533.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.22;DP=917;ExcessHet=0;FS=2.656;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=15.81;ReadPosRankSum=-1.767;SOR=0.973	GT:AD:DP:GQ:PL	0/1:46,51:97:99:1547,0,1222	18	0	1	0
chr22	46258711	46258711	T	C	exonic	PKDREJ	.	nonsynonymous SNV	PKDREJ:NM_006071:exon1:c.A4612G:p.T1538A	.	434	1083	5	0	0	5	0.00230309	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	.	7.7e-05	0.00898562	0.0047	0	0.0003	0.0001	0	0	0.0022	0.0344	0.004172	645	154602	rs202165704	0.0020	0.0020	0.0011	0.0028	0.0311	0.0019	0.0019	0.0301	0.0297	0.0002	4.472e-05	0	0.0002	0	0.0005	1.169e-05	0.0025	0.0311	0.0012	0.0012	0.0006	0.0018	0.0356	0.0010	0.0010	0.0313	0.0296	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0356	0.485	0.08115	T	0.761	0.04619	T	0.002	0.09854	B	0.001	0.04355	B	0.039910	0.01870	N	2.415630	1	0.08975	N	0	0.06538	N	1.34	0.34841	T	-0.15	0.09297	N	0.016	0.00203	-0.9940	0.31565	T	0.044	0.18906	T	10	0.0016500056	0.00020	T	.	.	.	0.018	0.03083	.	.	0.12205267543	0.11705	0.20266810763099014	0.20183	.	.	0.2238894701	0.01546	T	0.153485	0.49435	T	-0.735343	0.00022	T	-0.804671	0.01788	T	0.0182850710154796	0.00547	T	0.258174	0.04088	T	0.027410258	0.01928	0.036764603	0.03188	0.027410258	0.01928	0.036764603	0.03187	-3.763	0.20253	T	.	.	0.081	0.08176	B	.	.	-0.322818	0.02520	0.299	0.43493681200491102	0.03278	0.10005	0.15628	N	AEFBCI	0.052123	0.09273	N	-1.53503401441963	0.01624	0.07099663	-1.54259828590633	0.02027	0.09265867	0.996991236474864	0.35182	0.549168	0.22868	0	0.59043	0.45803	0	0.577349	0.28860	0	0.616125	0.45549	0	.	.	4.1	-3.08	0.05022	-0.523000	0.06316	0.602000	0.19937	-0.186000	0.09761	0.000000	0.06391	0.000000	0.08366	0.395000	0.26670	0.0:0.6484:0.0:0.3516	11.060	0.47162	940	0.13648	.	.	.	.	.	.	Likely benign	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	1	0	0	0	0.001511	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1908.33	112	chr22	46258711	.	T	C	1908.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=2.2;DP=1222;ExcessHet=0;FS=5.739;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.78;ReadPosRankSum=0.501;SOR=1.146	GT:AD:DP:GQ:PL	0/1:87,75:162:99:1922,0,2190	18	0	1	0
chr22	46297440	46297440	C	G	exonic	GTSE1	.	nonsynonymous SNV	GTSE1:NM_016426:exon2:c.C40G:p.R14G	.	425	1091	6	0	0	6	0.00274223	.	.	.	758128	not_provided	MedGen:C3661900	criteria_provided,_single_submitter	Benign	.	.	.	.	.	.	.	.	0.038	.	7.7e-05	0.00778754	0.0042	0	0.0002	0.0001	0	0	0.0022	0.0306	0.0037128	574	154602	rs201036893	0.0017	0.0017	0.0010	0.0025	0.0274	0.0017	0.0017	0.0265	0.0261	0.0002	4.473e-05	0	0.0002	0	0.0005	9.895e-06	0.0022	0.0274	0.0011	0.0011	0.0006	0.0015	0.0321	0.0009	0.0009	0.0280	0.0264	0.0001	0	0	0	0	0	0	2.94e-05	0	0.0321	0.12	0.27904	T	0.137	0.33894	T	.	.	.	.	.	.	.	.	.	.	1	0.08975	N	.	.	.	3.21	0.07125	T	-0.94	0.25118	N	0.142	0.14196	-1.0129	0.26007	T	0.024	0.10103	T	6	0.0024000406	0.00036	T	.	.	.	0.038	0.09825	.	.	0.16115917748	0.15686	0.09620819248204526	0.09552	0.256701344774	0.28238	0.302537381649	0.10780	T	.	.	.	-0.684896	0.00045	T	-0.734952	0.04106	T	0.0830158910860818	0.10368	T	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.080	0.07889	B	.	.	1.509852	0.19395	14.24	0.94806902760178513	0.25562	0.05333	0.11187	N	ALL	0.072271	0.14417	N	-0.37242411969415	0.26456	1.443993	-0.523116388508234	0.21526	1.164904	0.999999997581611	0.74766	0.441713	0.08003	0	0.52208	0.09955	0	0.504199	0.09095	0	0.56214	0.19341	0	.	.	2.48	2.48	0.29194	1.228000	0.32190	1.067000	0.23771	0.599000	0.40250	0.001000	0.13787	0.001000	0.17328	0.091000	0.17840	0.0:1.0:0.0:0.0	8.571	0.32728	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	0	0	1	0	0.002014	0.000000	0.000000	0.000000	0.000000	0.000000	0.000000	0.011364	0.02632	1556.33	34	chr22	46297440	.	C	G	1556.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-0.252;DP=786;ExcessHet=0;FS=1.282;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.24;ReadPosRankSum=0.151;SOR=0.57	GT:AD:DP:GQ:PL	0/1:80,72:152:99:1570,0,1861	18	0	1	0
chr22	46391677	46391677	C	T	exonic	CELSR1	.	nonsynonymous SNV	CELSR1:NM_001378328:exon15:c.G6104A:p.R2035H,CELSR1:NM_014246:exon15:c.G6104A:p.R2035H	.	.	.	.	.	.	.	.	.	.	.	2684831	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.350	0.0441356490929	7.7e-05	0.000199681	3.701e-05	0.0001	0	0	0	3.34e-05	0	6.722e-05	3.23e-05	5	154602	rs372618228	1.716e-05	1.984e-05	1.776e-05	1.656e-05	2.521e-05	1.178e-05	9.96e-06	9.32e-06	7.62e-06	0	2.269e-05	0	2.521e-05	0	0	1.53e-05	8.314e-05	1.166e-05	1.969e-05	1.968e-05	1.284e-05	2.684e-05	0.0002	5.23e-06	2.45e-06	4.88e-06	1.83e-06	0	0	0	0	0	0	0	2.94e-05	0	0.0002	0.065	0.36310	T	0.017	0.60337	D	0.382	0.34403	B	0.099	0.30579	B	0.000001	0.62929	U	0.000000	0.999871	0.50225	D	2.56	0.74772	M	-0.09	0.64086	T	-2.91	0.60982	D	0.258	0.29197	-0.2184	0.77193	T	0.345	0.70980	T	10	0.3919683	0.54956	T	0.044136	0.61338	D	0.350	0.67142	.	.	0.595986907406	0.59277	0.3092085007053386	0.30833	0.302320151578	0.32561	0.522757649422	0.42014	T	0.319268	0.69057	T	0.0340371	0.56260	T	-0.0882545	0.64293	T	0.697604894638062	0.40605	D	0.874313	0.58483	D	0.36932275	0.58535	0.26115176	0.51888	0.36932275	0.58535	0.26115176	0.51887	-8.58	0.64957	D	.	.	0.082	0.08851	B	.	.	3.842924	0.55623	23.6	0.99770078584663568	0.85834	0.96027	0.67203	D	AEFDBI	0.611650	0.60002	D	0.310386645436711	0.56680	3.833215	0.317702998336907	0.56581	3.821498	0.999999999996164	0.74766	0.646311	0.45356	0	0.573888	0.26702	0	0.645312	0.48771	0	0.567892	0.33627	0	.	.	4.43	4.43	0.52967	3.677000	0.54354	4.648000	0.44184	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.880000	0.42090	0.0:1.0:0.0:0.0	16.657	0.85087	970	0.06235	Laminin EGF domain|Laminin EGF domain|Laminin EGF domain|GPCR, family 2, extracellular hormone receptor domain|Laminin EGF 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	.	.	.	.	.	.	.	.	0.02632	1058.33	45	chr22	46391677	.	C	T	1058.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=1.31;DP=977;ExcessHet=0;FS=1.676;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=11.26;ReadPosRankSum=-1.702;SOR=0.878	GT:AD:DP:GQ:PL	0/1:54,40:94:99:1072,0,1426	18	0	1	0
chr22	50217080	50217080	C	T	exonic	SELENOO	.	unknown	UNKNOWN	.	424	1097	1	0	0	1	0.000455581	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.479e-06	0	0	0	0	1.546e-05	0	0	1.29e-05	2	154602	rs760383196	5.066e-05	5.062e-05	4.224e-05	5.917e-05	0.0028	4.129e-05	3.781e-05	0.0017	0.0014	5.974e-05	4.473e-05	0	0	1.912e-05	0.0028	3.867e-05	9.938e-05	4.637e-05	2.625e-05	2.624e-05	1.284e-05	4.027e-05	0.0002	8.13e-06	5.14e-06	1.171e-05	6.25e-06	0	0	0	0	0	0	0	4.41e-05	0	0.0002	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0.002014	0.005051	0.001359	0.005848	0.000000	0.000000	0.000000	0.000000	0.02632	2203.33	41	chr22	50217080	.	C	T	2203.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.696;DP=940;ExcessHet=0;FS=0.485;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=9.66;ReadPosRankSum=-0.631;SOR=0.655	GT:AD:DP:GQ:PL	0/1:129,99:228:99:2217,0,3232	18	0	1	0
chr22	50454628	50454628	G	T	exonic	SBF1	.	nonsynonymous SNV	SBF1:NM_001365819:exon35:c.C4852A:p.P1618T,SBF1:NM_002972:exon36:c.C4927A:p.P1643T	Charcot-Marie-Tooth disease, type 4B3, Autosomal recessive	.	.	.	.	.	.	.	.	.	.	717549	Charcot-Marie-Tooth_disease_type_4B3|Tip-toe_gait|SBF1-related_disorder|not_provided	MONDO:MONDO:0014117,MedGen:C3695063,OMIM:615284,Orphanet:363981|Human_Phenotype_Ontology:HP:0002394,Human_Phenotype_Ontology:HP:0030051,Human_Phenotype_Ontology:HP:0040083,MedGen:C0427144|.|MedGen:C3661900	criteria_provided,_conflicting_classifications	Conflicting_classifications_of_pathogenicity	.	.	.	.	.	.	.	.	0.115	0.0437406740935	0.0017	0.000599042	0.0022	0.0007	0.0002	0	0.0055	0.0032	0	0	0.0020634	319	154602	rs202049257	0.0024	0.0024	0.0025	0.0023	0.0027	0.0023	0.0023	0.0027	0.0026	0.0005	0.0003	0	0	0.0061	0.0004	0.0027	0.0018	1.177e-05	0.0022	0.0022	0.0024	0.0020	0.0037	0.0020	0.0019	0.0033	0.0031	0.0005	0	0.0005	0	0	0.0055	0	0.0037	0.0009	0	0.235	0.18000	T	0.615	0.07568	T	.	.	.	.	.	.	0.453146	0.12482	N	0.763371	0.927782	0.36875	D	.	.	.	-2.04	0.85703	D	-1.11	0.31576	N	0.26	0.30347	-0.8382	0.52766	T	0.170	0.51020	T	10	0.0064341426	0.00146	T	0.043741	0.61141	D	0.251	0.56024	.	.	0.497580052145	0.49393	0.4214633360116159	0.42062	.	.	0.586868405342	0.51052	T	0.095584	0.39651	T	-0.338669	0.05481	T	-0.258297	0.48994	T	0.00907645746739165	0.00114	T	0.917108	0.70302	D	0.06418768	0.13594	0.07245518	0.15633	0.09346137	0.21952	0.06196282	0.12048	-4.702	0.33979	T	0.10922276743256756	0.09094	0.068	0.02927	B	.;.	.;.	2.744067	0.35953	20.1	0.92291183683565703	0.21679	0.55375	0.29848	D	AEFBI	0.326873	0.42801	N	-0.216153502128315	0.32470	1.831566	-0.209377640856524	0.31197	1.763386	0.992952702258691	0.33030	0.706548	0.73137	0	0.702456	0.74545	0	0.723109	0.80598	0	0.714379	0.83352	0	.	.	4.54	4.54	0.55220	1.471000	0.34973	7.387000	0.58489	0.672000	0.70159	0.302000	0.25342	1.000000	0.68203	0.044000	0.14658	0.0:0.0:1.0:0.0	17.245	0.86911	819	0.41190	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.02632	905.33	34	chr22	50454628	.	G	T	905.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=-1.285;DP=714;ExcessHet=0;FS=0.795;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=10.06;ReadPosRankSum=-0.538;SOR=0.546	GT:AD:DP:GQ:PL	0/1:48,42:90:99:919,0,1201	18	0	1	0
chr22	50521592	50521592	C	G	exonic	NCAPH2	.	nonsynonymous SNV	NCAPH2:NM_001185011:exon11:c.C983G:p.S328C,NCAPH2:NM_152299:exon11:c.C983G:p.S328C	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.00931762138245	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.023	0.57104	D	0.995	0.67487	D	0.923	0.65830	D	0.015583	0.28205	N	0.340811	1	0.08975	N	2.56	0.74772	M	.	.	.	-2.73	0.58085	D	0.387	0.43029	-0.9798	0.35048	T	0.179	0.52504	T	9	0.21148857	0.37578	T	0.009318	0.24459	T	0.098	0.28162	0.503	0.59615	0.143184338766	0.13958	0.18066746165930556	0.17985	0.436506209224	0.43739	0.394043803215	0.24237	T	0.519204	0.83154	D	-0.0615836	0.42659	T	-0.326237	0.41887	T	0.9396812915802	0.61135	D	0.868313	0.57032	D	0.18095781	0.39242	0.15429825	0.36219	0.18095781	0.39242	0.15429825	0.36218	-7.15	0.55121	T	.	.	0.090	0.25978	B	.;.;.	.;.;.	4.985831	0.82625	27.8	0.9881136355506035	0.46623	0.52886	0.29239	D	AEFBCI	0.250378	0.37044	N	0.474468878140522	0.65603	4.843416	0.409804835214453	0.62173	4.428596	0.999915866268289	0.45857	0.719381	0.83141	0	0.702456	0.74545	0	0.723109	0.80598	0	0.733575	0.97253	0	.	.	5.01	2.81	0.31971	3.446000	0.52692	2.932000	0.35621	0.549000	0.26987	0.684000	0.28476	0.275000	0.24072	0.916000	0.45140	0.367:0.4747:0.1583:0.0	6.716	0.22492	628	0.65206	Condensin-2 complex subunit H2, C-terminal;Condensin-2 complex subunit H2, 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	.	.	.	.	.	.	.	.	0.02632	1338.33	33	chr22	50521592	.	C	G	1338.33	.	AC=1;AF=0.026;AN=38;BaseQRankSum=0.267;DP=718;ExcessHet=0;FS=5.293;InbreedingCoeff=-0.027;MLEAC=1;MLEAF=0.026;MQ=60;MQRankSum=0;QD=14.71;ReadPosRankSum=-1.12;SOR=0.869	GT:AD:DP:GQ:PL	0/1:40,51:91:99:1352,0,1016	18	0	1	0
chrX	26194489	26194489	T	C	exonic	MAGEB6	.	nonsynonymous SNV	MAGEB6:NM_173523:exon2:c.T643C:p.S215P	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.041	0.012177943643	.	.	4.57e-05	0	0	0	0	6.261e-05	0	0.0001	3.23e-05	5	154602	rs761115892	2.914e-05	2.914e-05	2.859e-05	3.026e-05	3.311e-05	2.108e-05	1.804e-05	1.71e-05	1.46e-05	0	0	0	3.311e-05	2.467e-05	0	2.612e-05	0.0002	1.847e-05	8.982e-06	8.731e-06	1.287e-05	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0.0007	0	1.0	0.00964	T	1.0	0.01155	T	0.001	0.07471	B	0.003	0.08700	B	0.000188	0.48115	N	0.140599	1	0.08975	N	-1.66	0.00382	N	3.87	0.03597	T	4.84	0.00027	N	0.02	0.00308	-0.9268	0.44602	T	0.002	0.00676	T	10	0.021300733	0.00507	T	0.012178	0.30521	T	0.041	0.10877	0.471	0.54537	0.280181792013	0.27631	0.1773923929301382	0.17658	0.022355780132	0.02249	0.478645414114	0.35870	T	0.012851	0.11224	T	-0.667005	0.00057	T	-1.04559	0.00071	T	0.0321573415523542	0.02331	T	0.0760924	0.00560	T	0.058922958	0.11914	0.09069301	0.21282	0.058922958	0.11914	0.09069301	0.21281	-1.013	0.01014	T	.	.	0.044	0.00040	B	.	.	-0.463377	0.01987	0.174	0.088441991798566155	0.00078	0.00019	0.00214	N	AEFI	.	.	.	.	.	.	.	.	.	1.33575917438624E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1	1.29	0.20717	-0.365000	0.07626	-4.363000	0.02196	-0.213000	0.08312	0.000000	0.06391	0.000000	0.08366	0.031000	0.13245	0.0:0.6554:0.0:0.3446	4.462	0.11090	690	0.58899	MAGE homology domain|MAGE homology domain	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	4541.81	34	chrX	26194489	.	T	C	4541.81	.	AC=2;AF=0.053;AN=38;DP=976;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=31.32;SOR=0.919	GT:AD:DP:GQ:PL	1/1:0,145:145:99:4569,435,0	18	1	0	0
chrX	27462930	27462930	C	A	exonic	PPP4R3C	.	stopgain	PPP4R3C:NM_207319:exon1:c.G367T:p.E123X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.706160	0.93143	33	0.47978293668109429	0.03966	0.98124	0.79803	D	AEFDI	.	.	.	.	.	.	.	.	.	0.379229754163445	0.19945	.	.	.	.	.	.	.	.	.	.	.	.	0.639608	0.41554	4.68	3.82	0.43153	5.957000	0.70042	1.013000	0.23346	0.599000	0.40250	1.000000	0.71638	0.057000	0.21958	0.013000	0.09966	0.0:0.8965:0.0:0.1035	9.763	0.39713	637	0.64373	.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.125	40.69	.	chrX	27462930	.	C	A	40.69	.	AC=2;AF=0.125;AN=16;DP=14;ExcessHet=0;FS=0;MLEAC=3;MLEAF=0.188;MQ=60;QD=20.35;SOR=0.693	GT:AD:DP:GQ:PL	1/1:0,2:2:6:49,6,0	7	1	0	11
chrX	44232585	44232585	C	T	exonic	EFHC2	.	nonsynonymous SNV	EFHC2:NM_025184:exon10:c.G1516A:p.E506K	.	429	1051	29	13	0	55	0.0254984	.	.	.	1308138	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Likely_benign	.	.	.	.	.	.	.	.	0.038	0.226834300826	0.0032	0.00238411	0.0067	0.0008	0.0063	0	0.0033	0.0090	0	0.0091	0.0034605	535	154602	rs192827775	0.0045	0.0045	0.0045	0.0047	0.0283	0.0044	0.0044	0.0241	0.0225	0.0003	0.0020	0.0111	0	0.0026	0.0283	0.0045	0.0057	0.0072	0.0033	0.0034	0.0033	0.0033	0.0048	0.0030	0.0029	0.0043	0.0041	0.0005	0	0.0021	0.0109	0	0.0041	0.0320	0.0048	0.0039	0.0038	.	.	.	0.521	0.10429	T	0.913	0.50474	P	0.268	0.39801	B	0.000002	0.62929	D	0.059791	0.988983	0.40865	D	1.35	0.33515	L	.	.	.	.	.	.	0.122	0.11340	-0.8600	0.51263	T	0.193	0.54652	T	10	0.0077182353	0.00175	T	0.226834	0.88062	D	0.160	0.41473	.	.	0.362933182269	0.35899	0.7264299174291527	0.72586	0.153508229755	0.17316	0.373277664185	0.21302	T	0.011418	0.10189	T	-0.390963	0.02652	T	-0.329942	0.41474	T	0.0149901700767413	0.00322	T	0.90421	0.66396	D	0.33576554	0.55940	0.31499657	0.57488	0.33576554	0.55940	0.31499657	0.57487	-6.213	0.48028	T	.	.	0.174	0.38172	B	.	.	1.705199	0.21718	15.32	0.99643287406419756	0.76819	0.81980	0.41281	D	AEFI	.	.	.	.	.	.	.	.	.	0.999897227663305	0.45129	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.85	4.97	0.65419	1.678000	0.37202	1.868000	0.29368	0.599000	0.40250	0.957000	0.33433	0.998000	0.33993	0.251000	0.23288	0.0:0.8041:0.1959:0.0	16.094	0.80919	900	0.24599	Domain of unknown function DUF1126|Uncharacterised domain DM10|Uncharacterised domain DM10	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.015214	0.000000	0.014842	0.031621	0.000000	0.011765	0.017699	0.005263	0.07895	5411.77	34	chrX	44232585	.	C	T	5411.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.37;DP=905;ExcessHet=0;FS=1.499;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=18.73;ReadPosRankSum=0.697;SOR=0.8	GT:AD:DP:GQ:PL	1/1:0,107:107:99:3220,321,0	17	1	1	0
chrX	55146088	55146088	G	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C347A:p.T116K,FAM104B:NM_001166701:exon3:c.C344A:p.T115K,FAM104B:NM_001166702:exon3:c.C335A:p.T112K,FAM104B:NM_001166703:exon3:c.C341A:p.T114K	.	389	931	201	1	0	203	0.0983051	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.065	0.0145806555527	.	.	.	.	.	.	.	.	.	.	2.59e-05	4	154602	rs908148278	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.003	0.68238	D	0.003	0.76473	D	0.753	0.43334	P	0.139	0.33484	B	.	.	.	.	1	0.08975	N	.	.	.	0.55	0.54728	T	-4.2	0.75695	D	0.166	0.24883	-1.0379	0.17954	T	0.075	0.30272	T	9	0.13617307	0.25909	T	0.014581	0.34790	T	0.065	0.18881	0.383	0.40134	0.0297737177859	0.01360	0.5893565244531019	0.58865	0.102169319623	0.11567	.	.	.	.	.	.	-0.300639	0.08600	T	-0.669624	0.07632	T	0.278895500268211	0.24125	T	0.448455	0.12604	T	.	.	.	.	.	.	.	.	-3.286	0.14829	T	.	.	0.403	0.59716	A	.;.;.	.;.;.	2.694763	0.35184	19.83	0.76654625307924973	0.11555	0.30125	0.24001	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.922000	0.39675	-0.587000	0.08344	0.596000	0.33519	0.989000	0.36753	0.000000	0.08366	0.084000	0.17470	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.1579	4403.4	547	chrX	55146088	.	G	T	4403.4	.	AC=6;AF=0.158;AN=38;BaseQRankSum=0.5;DP=11340;ExcessHet=2.0135;FS=0;InbreedingCoeff=-0.1875;MLEAC=6;MLEAF=0.158;MQ=60;MQRankSum=0;QD=1.15;ReadPosRankSum=0.409;SOR=0.729	GT:AD:DP:GQ:PL	0/1:556,68:624:99:284,0,17041	13	0	6	0
chrX	55146104	55146104	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166700:exon3:c.C331T:p.R111X,FAM104B:NM_001166701:exon3:c.C328T:p.R110X,FAM104B:NM_001166702:exon3:c.C319T:p.R107X,FAM104B:NM_001166703:exon3:c.C325T:p.R109X	.	438	7	893	184	0	1261	0.98902	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0005	0.0042	0	0	0.0002	7.025e-05	0	0.0001	0.0310669	4803	154602	rs1047054	7.297e-06	9.106e-06	9.533e-06	2.762e-06	3.791e-05	3.14e-06	2.27e-06	6.14e-06	2.3e-06	3.791e-05	0	0	0	0	0	5.942e-06	0	3.701e-05	1.802e-05	1.746e-05	1.286e-05	3.013e-05	0.0004	2.99e-06	1.12e-06	.	.	3.282e-05	0	0	0	0	0	0	0	0	0.0004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.984587	0.24787	N	.	.	.	.	.	.	.	.	.	0.121	0.18512	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.334032	0.85436	D	0.242037	0.85245	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.;.;.	.;.;.	4.503254	0.70449	25.5	0.92570320911590998	0.22025	0.23489	0.22092	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986651300857	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	0.637	0.16907	1.269000	0.32677	-0.938000	0.06858	0.596000	0.33519	1.000000	0.71638	0.000000	0.08366	0.291000	0.24285	0.0:0.0:0.6198:0.3802	4.504	0.11285	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.069015	0.068027	0.074212	0.055556	0.000000	0.094118	0.048673	0.068421	0.6053	329440.0	742	chrX	55146104	.	G	A	329440.0	.	AC=23;AF=0.605;AN=38;BaseQRankSum=1.47;DP=13074;ExcessHet=20.8569;FS=0;InbreedingCoeff=-0.6522;MLEAC=23;MLEAF=0.605;MQ=60;MQRankSum=0;QD=26.15;ReadPosRankSum=0.694;SOR=0.726	GT:AD:DP:GQ:PL	1/1:58,577:635:99:19193,160,0	0	4	15	0
chrX	55146139	55146139	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C296T:p.T99I,FAM104B:NM_001166701:exon3:c.C293T:p.T98I,FAM104B:NM_001166702:exon3:c.C284T:p.T95I,FAM104B:NM_001166703:exon3:c.C290T:p.T97I	.	392	597	530	3	0	536	0.309827	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.027	0.00183666452811	.	.	1.173e-05	0	0	0	0	2.144e-05	0	0	0.0003842	10	26028	rs111573608	0	2.735e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.719e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	1.0	0.00964	T	1.0	0.01155	T	0.0	0.02946	B	0.0	0.01387	B	.	.	.	.	1	0.08975	N	.	.	.	1.2	0.37405	T	1.24	0.01024	N	0.218	0.30461	-0.9951	0.31272	T	0.031	0.13330	T	9	0.02422443	0.00659	T	0.001837	0.03193	T	0.027	0.05988	.	.	0.107399877778	0.10242	0.2636019881297539	0.26273	0.0855686498455	0.09666	.	.	.	.	.	.	-0.525263	0.00410	T	-0.99228	0.00154	T	0.0269564041948217	0.01537	T	0.618838	0.26722	T	.	.	.	.	.	.	.	.	-2.987	0.10042	T	.	.	0.077	0.10159	B	.;.;.	.;.;.	-0.509590	0.01836	0.146	0.55558757236298129	0.05367	0.01261	0.04425	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999998720991634	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-3.2	0.04838	0.118000	0.15436	-7.508000	0.01142	-0.947000	0.02050	0.987000	0.36337	0.000000	0.08366	0.919000	0.45453	0.5556:0.0:0.4444:0.0	6.324	0.20437	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.018776	0.006803	0.014842	0.027668	0.000000	0.023529	0.022124	0.021053	0.3529	32831.5	791	chrX	55146139	.	G	A	32831.5	.	AC=12;AF=0.353;AN=34;BaseQRankSum=0.454;DP=12869;ExcessHet=11.1788;FS=0;InbreedingCoeff=-0.52;MLEAC=13;MLEAF=0.382;MQ=60;MQRankSum=0;QD=4.02;ReadPosRankSum=0.955;SOR=0.672	GT:AD:DP:GQ:PL	0/1:438,216:654:99:4609,0,11149	5	0	12	2
chrX	55146173	55146173	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166700:exon3:c.C262T:p.P88S,FAM104B:NM_001166701:exon3:c.C259T:p.P87S,FAM104B:NM_001166702:exon3:c.C250T:p.P84S,FAM104B:NM_001166703:exon3:c.C256T:p.P86S	.	395	510	614	3	0	620	0.378049	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.021	0.00397070644289	.	.	0	0	0	0	0	0	0	0	0.0018057	47	26028	rs113745415	0	9.135e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	8.72e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.1	0.44029	T	0.019	0.59159	D	0.137	0.27402	B	0.013	0.16460	B	.	.	.	.	1	0.08975	N	.	.	.	1.03	0.40469	T	-0.15	0.09297	N	0.133	0.30461	-1.0449	0.15854	T	0.046	0.19680	T	9	0.10664967	0.19773	T	0.003971	0.09400	T	0.021	0.04004	.	.	0.0986583533028	0.09354	0.17703511721202211	0.17622	0.085900391515	0.09707	.	.	.	.	.	.	-0.47977	0.00741	T	-0.926933	0.00345	T	0.15306082367897	0.17345	T	0.714029	0.35027	T	.	.	.	.	.	.	.	.	-2.918	0.09324	T	.	.	0.099	0.18247	B	.;.;.	.;.;.	1.416818	0.18331	13.68	0.99268186498303135	0.57457	0.22113	0.21636	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999986653019121	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	0.635	0.16895	0.918000	0.28299	0.017000	0.13531	0.596000	0.33519	0.999000	0.42656	0.000000	0.08366	0.033000	0.13494	0.0:0.0:0.6213:0.3787	4.527	0.11390	314	0.87270	.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.011073	0.020408	0.009276	0.003953	0.000000	0.035294	0.013274	0.005263	0.3684	42799.2	721	chrX	55146173	.	G	A	42799.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=0.643;DP=12126;ExcessHet=17.0548;FS=0.637;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.7;ReadPosRankSum=-0.029;SOR=0.782	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:435,202:637:99:.:.:4363,0,11405:.	5	0	14	0
chrX	55146197	55146197	G	A	exonic	FAM104B	.	stopgain	FAM104B:NM_001166699:exon3:c.C238T:p.Q80X,FAM104B:NM_001166700:exon3:c.C238T:p.Q80X,FAM104B:NM_001166701:exon3:c.C235T:p.Q79X,FAM104B:NM_001166702:exon3:c.C226T:p.Q76X,FAM104B:NM_001166703:exon3:c.C232T:p.Q78X,FAM104B:NM_138362:exon3:c.C235T:p.Q79X	.	397	483	637	5	0	647	0.401116	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0009	0.0037	0.0002	0.0034	0.0004	0.0003	0	0.0012	0.0033426	87	26028	rs113263757	2.052e-05	0.0007	3.012e-05	0	0.0002	1.343e-05	1.147e-05	5.37e-05	3.17e-05	0.0002	0	0	0.0001	0	0	1.458e-05	4.432e-05	1.939e-05	0	5.238e-05	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	0.066869	0.21780	U	0.325359	1	0.81001	D	.	.	.	.	.	.	.	.	.	0.281	0.36359	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.166988	0.70845	D	0.00208969	0.70471	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Tolerant;.;Tolerant;.;.	High;.;High;.;.	5.479427	0.91365	32	0.96222129513840093	0.29091	0.25851	0.22822	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	1.881000	0.39273	1.530000	0.27153	0.596000	0.33519	0.820000	0.29989	0.004000	0.18990	0.022000	0.11911	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.038244	0.034014	0.051948	0.011858	0.000000	0.058824	0.026549	0.036842	0.3889	38022.8	651	chrX	55146197	.	G	A	38022.8	.	AC=14;AF=0.389;AN=36;BaseQRankSum=1.95;DP=10894;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.617;MLEAC=14;MLEAF=0.389;MQ=60;MQRankSum=0;QD=4.79;ReadPosRankSum=-0.18;SOR=0.757	GT:AD:DP:GQ:PGT:PID:PL:PS	0/1:371,159:530:99:.:.:3560,0,10676:.	4	0	14	1
chrX	55146212	55146212	C	T	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.G223A:p.D75N,FAM104B:NM_001166700:exon3:c.G223A:p.D75N,FAM104B:NM_001166701:exon3:c.G220A:p.D74N,FAM104B:NM_001166702:exon3:c.G211A:p.D71N,FAM104B:NM_001166703:exon3:c.G217A:p.D73N,FAM104B:NM_138362:exon3:c.G220A:p.D74N	.	432	10	1015	52	13	1132	0.982441	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.012	0.00302221843962	.	0.0013245	0.0001	0.0014	0	0	0	2.118e-05	0	0	0.0081067	211	26028	rs1047042	4.61e-06	4.563e-06	5.457e-06	2.843e-06	3.873e-05	1.35e-06	9.8e-07	6.25e-06	2.34e-06	3.873e-05	0	5.196e-05	0	0	0	1.202e-06	0	3.766e-05	9.039e-06	8.741e-06	1.287e-05	0	9.612e-05	0	0	.	.	0	0	9.612e-05	0	0	0	0	0	0	0	0.675	0.04495	T	1.0	0.06345	T	0.003	0.11197	B	0.0	0.04355	B	0.171170	0.17370	N	0.505297	1	0.08975	P	-0.49	0.02651	N	1.04	0.40218	T	0.87	0.01688	N	0.132	0.13626	-1.0454	0.15709	T	0.035	0.15160	T	9	0.0060353875	0.00136	T	0.003022	0.06487	T	0.012	0.01476	0.247	0.18293	0.0806252709748	0.07271	0.0651596601341745	0.06454	0.0775316632676	0.08717	0.25642067194	0.04473	T	0.008956	0.08187	T	-0.596363	0.00153	T	-1.09441	0.00031	T	0.0048729239977625	0.00052	T	0.519848	0.16911	T	0.03745953	0.04805	0.041539483	0.04745	0.03745953	0.04805	0.041539483	0.04745	-3.393	0.14963	T	.	.	0.058	0.00614	B	.;.;.;.;.	.;.;.;.;.	-0.711233	0.01295	0.069	0.1342819324597182	0.00264	0.00118	0.00744	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999988775956904	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.04	0.09555	0.059000	0.14199	-2.996000	0.03156	-0.242000	0.07441	0.003000	0.16062	0.000000	0.08366	0.015000	0.10482	0.0:0.4679:0.0:0.5321	4.225	0.10030	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	248356.0	575	chrX	55146212	.	C	T	248356.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=2.62;DP=10110;ExcessHet=48.2876;FS=1.42;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=26;ReadPosRankSum=1.35;SOR=0.54	GT:AD:DP:GQ:PL	0/1:71,387:458:99:12277,0,681	0	0	19	0
chrX	55146214	55146214	G	A	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C221T:p.P74L,FAM104B:NM_001166700:exon3:c.C221T:p.P74L,FAM104B:NM_001166701:exon3:c.C218T:p.P73L,FAM104B:NM_001166702:exon3:c.C209T:p.P70L,FAM104B:NM_001166703:exon3:c.C215T:p.P72L,FAM104B:NM_138362:exon3:c.C218T:p.P73L	.	380	1100	41	1	0	43	0.0191708	.	.	.	2333934	not_specified	MedGen:CN169374	criteria_provided,_single_submitter	Uncertain_significance	.	.	.	.	.	.	.	.	0.035	0.00876998388438	.	.	.	.	.	.	.	.	.	.	.	.	.	rs866839768	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.315	0.13789	T	0.12	0.67890	T	0.945	0.53279	P	0.851	0.71530	P	0.873191	0.07189	N	1.077440	1	0.08975	N	1.04	0.26193	L	1.07	0.39586	T	-0.45	0.14782	N	0.139	0.13769	-0.9995	0.30058	T	0.112	0.40029	T	10	0.054038584	0.05690	T	0.00877	0.23147	T	0.035	0.08770	0.339	0.32979	0.0920862733494	0.08535	0.15662812420360386	0.15583	0.455486312176	0.45221	0.226637601852	0.01728	T	0.01433	0.12223	T	-0.410012	0.01987	T	-0.826731	0.01321	T	0.0581960721379313	0.06881	T	0.710329	0.32115	T	0.04068161	0.05853	0.05239224	0.08621	0.04068161	0.05853	0.05239224	0.08621	-2.044	0.03351	T	.	.	0.102	0.18122	B	.;.;.;.;.	.;.;.;.;.	0.045960	0.04608	1.277	0.77836609989061178	0.12043	0.01031	0.03865	N	AEFDGBIJ	.	.	.	.	.	.	.	.	.	0.999987030541589	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	-0.4	0.11793	0.840000	0.27253	-1.999000	0.04367	0.596000	0.33519	0.027000	0.20232	0.000000	0.08366	0.112000	0.18829	0.2252:0.0:0.4531:0.3218	1.897	0.03062	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.05263	1520.83	426	chrX	55146214	.	G	A	1520.83	.	AC=2;AF=0.053;AN=38;BaseQRankSum=5.07;DP=7834;ExcessHet=0.119;FS=1.681;InbreedingCoeff=-0.0556;MLEAC=2;MLEAF=0.053;MQ=60;MQRankSum=0;QD=1.55;ReadPosRankSum=0.262;SOR=0.893	GT:AD:DP:GQ:PL	0/1:387,72:459:99:1087,0,12136	17	0	2	0
chrX	55146247	55146247	G	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.C188G:p.P63R,FAM104B:NM_001166700:exon3:c.C188G:p.P63R,FAM104B:NM_001166701:exon3:c.C185G:p.P62R,FAM104B:NM_001166702:exon3:c.C176G:p.P59R,FAM104B:NM_001166703:exon3:c.C182G:p.P61R,FAM104B:NM_138362:exon3:c.C185G:p.P62R	.	398	590	530	4	0	538	0.313155	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.133	0.0130273709953	.	.	.	.	.	.	.	.	.	.	0.0032657	85	26028	rs111638770	9.115e-07	9.107e-07	1.361e-06	0	1.848e-05	0	0	.	.	0	0	0	0	0	0	0	0	1.848e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.006	0.72224	D	0.752	0.77913	P	0.071	0.79672	B	0.181519	0.17089	U	0.482281	1	0.18198	N	1.79	0.46772	L	0.49	0.55775	T	-6.46	0.91956	D	0.329	0.36989	-0.9561	0.39898	T	0.213	0.57334	T	10	0.25765532	0.43183	T	0.013027	0.32109	T	0.133	0.36157	0.439	0.49321	0.176091768786	0.17195	0.15725273701375614	0.15646	0.462644719079	0.45794	0.299729704857	0.10360	T	0.09323	0.39168	T	-0.104812	0.35627	T	-0.388332	0.34746	T	0.953682541847229	0.64085	D	0.80372	0.51656	T	0.38991144	0.60026	0.48550862	0.70220	0.38991144	0.60026	0.48550862	0.70221	-3.385	0.15177	T	.	.	0.146	0.32275	B	.;.;.;.;.	.;.;.;.;.	2.836954	0.37416	20.5	0.99573153193770736	0.72501	0.41324	0.26632	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999994922950989	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6	1.6	0.22686	2.239000	0.42728	2.405000	0.32612	0.596000	0.33519	0.999000	0.42656	0.987000	0.30940	0.973000	0.55318	0.0:0.0:1.0:0.0	6.091	0.19219	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.013879	0.020408	0.018553	0.003953	0.000000	0.023529	0.013274	0.005263	0.3684	25836.2	418	chrX	55146247	.	G	C	25836.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=-1.026;DP=7388;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.88;ReadPosRankSum=0.405;SOR=0.751	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:271,85:356:99:0|1:55146247_G_C:2638,0,10949:55146247	5	0	14	0
chrX	55146252	55146252	-	T	exonic	FAM104B	.	frameshift insertion	FAM104B:NM_001166699:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166700:exon3:c.182_183insA:p.S61Rfs*13,FAM104B:NM_001166701:exon3:c.179_180insA:p.S60Rfs*13,FAM104B:NM_001166702:exon3:c.170_171insA:p.S57Rfs*13,FAM104B:NM_001166703:exon3:c.176_177insA:p.S59Rfs*13,FAM104B:NM_138362:exon3:c.179_180insA:p.S60Rfs*13	.	390	569	526	3	34	566	0.318563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	25152.2	407	chrX	55146252	.	A	AT	25152.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=2.19;DP=7127;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.93;ReadPosRankSum=0.184;SOR=0.72	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:269,81:350:99:0|1:55146247_G_C:2531,0,10901:55146247	5	0	14	0
chrX	55146254	55146254	T	C	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A181G:p.S61G,FAM104B:NM_001166700:exon3:c.A181G:p.S61G,FAM104B:NM_001166701:exon3:c.A178G:p.S60G,FAM104B:NM_001166702:exon3:c.A169G:p.S57G,FAM104B:NM_001166703:exon3:c.A175G:p.S59G,FAM104B:NM_138362:exon3:c.A178G:p.S60G	.	431	15	1050	26	0	1102	0.973498	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.075	0.0041360361776	.	.	0	0	0	0	0	0	0	0	0.0095666	249	26028	rs1047037	9.142e-07	4.651e-05	1.362e-06	0	1.191e-06	0	0	.	.	0	0	0	0	0	0	1.191e-06	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.014	0.53172	D	0.115	0.36630	T	0.18	0.29046	B	0.013	0.26930	B	0.022656	0.26593	N	0.266251	1	0.08975	N	1.125	0.28843	L	0.62	0.53302	T	-3.25	0.65972	D	0.165	0.17691	-1.0460	0.15534	T	0.083	0.32556	T	10	0.08577216	0.14513	T	0.004136	0.09900	T	0.075	0.21907	0.066	0.00312	0.141422826196	0.13715	0.08695167493373998	0.08629	0.0811463258042	0.09130	0.299347400665	0.10303	T	0.051814	0.28986	T	-0.403148	0.02207	T	-0.816871	0.01517	T	0.062755441338216	0.07595	T	0.529347	0.19916	T	0.15294263	0.34692	0.18436645	0.41484	0.15294263	0.34692	0.18436645	0.41484	-4.147	0.26024	T	.	.	0.074	0.04932	B	.;.;.;.;.	.;.;.;.;.	0.505601	0.08746	5.521	0.88816084291515585	0.18278	0.01111	0.04064	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999988486351367	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-0.917	0.09952	0.342000	0.19669	0.018000	0.13546	0.587000	0.30956	0.001000	0.13787	0.000000	0.08366	0.925000	0.46118	0.0:0.4736:0.0:0.5264	4.198	0.09911	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	.	.	.	.	.	.	.	.	0.5	119400.0	395	chrX	55146254	.	T	C	119400.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-1.566;DP=7115;ExcessHet=48.2876;FS=6.049;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=18.09;ReadPosRankSum=-1.393;SOR=0.475	GT:AD:DP:GQ:PL	0/1:144,191:335:99:5100,0,4443	0	0	19	0
chrX	55146256	55146256	G	-	exonic	FAM104B	.	frameshift deletion	FAM104B:NM_001166699:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166700:exon3:c.179delC:p.A60Efs*8,FAM104B:NM_001166701:exon3:c.176delC:p.A59Efs*8,FAM104B:NM_001166702:exon3:c.167delC:p.A56Efs*8,FAM104B:NM_001166703:exon3:c.173delC:p.A58Efs*8,FAM104B:NM_138362:exon3:c.176delC:p.A59Efs*8	.	387	620	513	2	0	517	0.294252	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3684	24097.2	397	chrX	55146255	.	TG	T	24097.2	.	AC=14;AF=0.368;AN=38;BaseQRankSum=1.27;DP=6566;ExcessHet=17.0548;FS=0;InbreedingCoeff=-0.5833;MLEAC=14;MLEAF=0.368;MQ=60;MQRankSum=0;QD=4.91;ReadPosRankSum=-0.283;SOR=0.712	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:260,77:337:99:0|1:55146247_G_C:2451,0,10679:55146247	5	0	14	0
chrX	55146275	55146275	T	G	exonic	FAM104B	.	nonsynonymous SNV	FAM104B:NM_001166699:exon3:c.A160C:p.I54L,FAM104B:NM_001166700:exon3:c.A160C:p.I54L,FAM104B:NM_001166701:exon3:c.A157C:p.I53L,FAM104B:NM_001166702:exon3:c.A148C:p.I50L,FAM104B:NM_001166703:exon3:c.A154C:p.I52L,FAM104B:NM_138362:exon3:c.A157C:p.I53L	.	427	21	1052	22	0	1096	0.963093	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.098	0.0118030854457	.	.	1.142e-05	0	0	0	0	2.088e-05	0	0	0.0196828	3043	154602	rs1047034	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.0	0.91255	D	0.051	0.47828	T	0.105	0.26966	B	0.068	0.39904	B	0.152569	0.17919	U	0.451659	1	0.08975	N	1.955	0.52871	M	0.27	0.59176	T	-1.83	0.45042	N	0.551	0.57690	-0.8632	0.51032	T	0.155	0.48687	T	10	0.1871016	0.34206	T	0.011803	0.29782	T	0.098	0.28162	0.189	0.09907	0.0884992946249	0.08302	0.12338101866159702	0.12264	0.0928677804986	0.10486	0.449103206396	0.31821	T	0.163737	0.50891	T	-0.214808	0.18708	T	-0.546333	0.17678	T	0.224603921175003	0.21691	T	0.758424	0.38228	T	0.50850886	0.67592	0.29124478	0.55149	0.50850886	0.67593	0.29124478	0.55148	-2.996	0.10138	T	.	.	0.123	0.25689	B	.;.;.;.;.	.;.;.;.;.	1.130701	0.15173	11.64	0.8192711395344332	0.13930	0.34538	0.25091	N	AEFDGBI	.	.	.	.	.	.	.	.	.	0.999989777015944	0.51787	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.59	-1.26	0.08892	0.742000	0.25884	-6.329000	0.01429	-0.214000	0.08267	1.000000	0.71638	0.000000	0.08366	0.065000	0.16320	0.0:0.5197:0.0:0.4803	4.529	0.11402	314	0.87270	.;.;.;.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0.000688	0.000000	0.000000	0.000000	0.000000	0.000000	0.004425	0.000000	0.5	119815.0	315	chrX	55146275	.	T	G	119815.0	.	AC=19;AF=0.5;AN=38;BaseQRankSum=-0.969;DP=5611;ExcessHet=48.2876;FS=13.766;InbreedingCoeff=-1;MLEAC=19;MLEAF=0.5;MQ=60;MQRankSum=0;QD=23.27;ReadPosRankSum=-3.985;SOR=0.493	GT:AD:DP:GQ:PL	0/1:56,191:247:99:5549,0,1000	0	0	19	0
chrX	74591813	74591813	G	A	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.C1502T:p.S501L,RLIM:NM_183353:exon5:c.C1502T:p.S501L	Mental retardation, X-linked 61, X-linked recessive	9	1490	23	0	0	23	0.00765901	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.132	0.00392722355489	.	.	0.0002	0.0001	0	0	0	0.0002	0	0.0005	3.84e-05	1	26028	rs200629905	9.112e-07	2.732e-06	1.361e-06	0	1.188e-06	0	0	.	.	0	0	0	0	0	0	1.188e-06	0	0	1.841e-05	0.0001	2.588e-05	0	3.351e-05	3.06e-06	1.15e-06	.	.	3.351e-05	0	0	0	0	0	0	1.925e-05	0	0	0.42	0.09836	T	0.382	0.15890	T	0.0	0.02946	B	0.0	0.01387	B	0.264373	0.15251	N	0.666655	0.949983	0.37675	D	0.75	0.19020	N	3.03	0.08898	T	-0.73	0.20576	N	0.123	0.11483	-1.0706	0.09282	T	0.025	0.10598	T	10	0.013200998	0.00281	T	0.003927	0.09274	T	0.132	0.35948	.	.	0.474660930215	0.47096	0.4159198749435835	0.41507	0.659223824986	0.58794	0.605702996254	0.53710	T	0.099372	0.40412	T	-0.300593	0.08604	T	-0.669557	0.07637	T	0.123469986021519	0.14766	T	0.649135	0.25986	T	0.103400156	0.24439	0.122803114	0.29618	0.103400156	0.24438	0.122803114	0.29617	-7.457	0.57308	T	0.06091627704634275	0.01704	0.072	0.04198	B	.;.	.;.	1.715856	0.21849	15.37	0.81488155183217736	0.13710	0.91941	0.54595	D	AEFBCI	.	.	.	.	.	.	.	.	.	0.999021295674977	0.38237	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.41	4.55	0.55429	2.957000	0.48830	4.344000	0.43067	-0.113000	0.14837	0.998000	0.41325	1.000000	0.68203	0.948000	0.49324	0.0772:0.0:0.9228:0.0	13.469	0.60726	99	0.95913	.;.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0.035865	0.095238	0.024119	0.019763	0.071429	0.035294	0.044248	0.026316	0.07895	199.58	36	chrX	74591813	.	G	A	199.58	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-2.187;DP=969;ExcessHet=0.3672;FS=3.814;InbreedingCoeff=-0.068;MLEAC=1;MLEAF=0.026;MQ=59.05;MQRankSum=-5.91;QD=0.95;ReadPosRankSum=-2.383;SOR=1.197	GT:AD:DP:GQ:PL	0/1:64,7:71:2:2,0,2170	16	0	3	0
chrX	74591904	74591904	A	G	exonic	RLIM	.	nonsynonymous SNV	RLIM:NM_016120:exon4:c.T1411C:p.S471P,RLIM:NM_183353:exon5:c.T1411C:p.S471P	Mental retardation, X-linked 61, X-linked recessive	9	1217	293	0	3	296	0.107444	.	.	.	706313	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	0.240	.	.	.	0.0029	0.0116	0.0005	0	0.0003	0.0029	0	0.0019	0.0113453	1754	154602	rs201164156	0.0008	0.0027	0.0011	0	0.0013	0.0007	0.0007	0.0009	0.0008	0.0013	0.0003	0.0003	0.0002	0.0021	0.0008	0.0008	0.0009	0.0001	0.0005	0.0047	0.0008	0	0.0009	0.0004	0.0004	0.0004	0.0003	0.0006	0	0.0005	0.0004	0.0009	0.0005	0	0.0005	0.0007	0.0004	0.21	0.19639	T	0.328	0.18675	T	0.842	0.46562	P	0.1	0.30674	B	0.514165	0.11812	U	0.638142	1	0.08975	N	1.7	0.43825	L	-1.96	0.85091	D	-0.25	0.11008	N	0.207	0.22998	-0.7951	0.55432	T	0.216	0.57836	T	10	0.006244242	0.00141	T	.	.	.	0.240	0.54500	.	.	.	.	0.4665592874844735	0.46574	0.934645105114	0.71975	0.607906699181	0.54020	T	0.132362	0.46240	T	-0.0295646	0.47480	T	-0.280244	0.46779	T	0.0105822094544231	0.00148	T	0.430157	0.11673	T	0.09892091	0.23338	0.13853694	0.33082	0.09892091	0.23338	0.13853694	0.33082	-7.284	0.56081	T	0.3542269034747019	0.45119	0.098	0.16231	B	.;.	.;.	0.643466	0.10120	6.865	0.20867452940731573	0.00770	0.09317	0.15097	N	AEFGBCI	.	.	.	.	.	.	.	.	.	0.920848692020125	0.26649	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.66	0.088	0.13764	0.990000	0.29242	2.406000	0.32617	0.756000	0.94297	0.212000	0.24446	0.201000	0.23571	0.004000	0.06068	0.5962:0.4038:0.0:0.0	3.724	0.07997	99	0.95913	.;.	.	.	.	.	.	Likely benign	0	0	0	0	0	1	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0.100000	0.136054	0.068646	0.102767	0.071429	0.058824	0.132743	0.089474	0.1842	3092.38	36	chrX	74591904	.	A	G	3092.38	.	AC=7;AF=0.184;AN=38;BaseQRankSum=-3.755;DP=1934;ExcessHet=2.9153;FS=4.408;InbreedingCoeff=-0.2258;MLEAC=7;MLEAF=0.184;MQ=58.76;MQRankSum=-11.41;QD=2.06;ReadPosRankSum=3.45;SOR=0.384	GT:AD:DP:GQ:PGT:PID:PL:PS	0|1:179,19:198:99:0|1:74591902_T_A:259,0,7418:74591902	12	0	7	0
chrX	91436668	91436668	G	A	exonic	PABPC5	.	nonsynonymous SNV	PABPC5:NM_080832:exon2:c.G1091A:p.R364H	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.248	0.0212191272092	.	.	0	0	0	0	0	0	0	0	3.84e-05	1	26028	rs751297464	3.647e-06	4.553e-06	2.724e-06	5.512e-06	1.85e-05	8.5e-07	5.8e-07	4e-07	1.5e-07	0	0	0	0	0	0	2.376e-06	2.174e-05	1.85e-05	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.78490	D	0.127	0.54159	T	0.942	0.52977	P	0.401	0.44513	B	0.000000	0.84330	D	0.000000	0.999933	0.51612	D	0.525	0.13617	N	2.32	0.16640	T	-3.9	0.74821	D	0.398	0.43899	-1.1212	0.02257	T	0.036	0.15553	T	10	0.50394374	0.61709	D	0.021219	0.43954	T	0.248	0.55615	0.66	0.79791	0.709873008806	0.70733	0.6437247062245874	0.64307	0.80591612175	0.66462	0.670064151287	0.62846	T	0.137415	0.47034	T	-0.18143	0.23522	T	-0.498388	0.22515	T	0.980539083480835	0.73411	D	0.967603	0.88252	D	0.34832907	0.56936	0.2814729	0.54129	0.34832907	0.56936	0.2814729	0.54128	-6.726	0.52006	T	.	.	0.129	0.27732	B	.;.	.;.	3.834041	0.55435	23.6	0.98822642594000976	0.46819	0.97533	0.75370	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997238842572531	0.35404	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.14	3.28	0.36691	7.850000	0.85220	4.526000	0.43706	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.877000	0.41881	0.112:0.0:0.888:0.0	9.143	0.36078	949	0.11373	RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain;RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain|RNA recognition motif domain, eukaryote	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.1053	372.78	164	chrX	91436668	.	G	A	372.78	.	AC=4;AF=0.105;AN=38;BaseQRankSum=-2.363;DP=1481;ExcessHet=0.7564;FS=155.266;InbreedingCoeff=-0.1236;MLEAC=4;MLEAF=0.105;MQ=60;MQRankSum=0;QD=0.86;ReadPosRankSum=0.819;SOR=8.608	GT:AD:DP:GQ:PL	0/1:75,16:91:60:60,0,1485	15	0	4	0
chrX	91835616	91835616	G	T	exonic	PCDH11X	.	nonsynonymous SNV	PCDH11X:NM_001168360:exon1:c.G112T:p.V38F,PCDH11X:NM_001168361:exon1:c.G112T:p.V38F,PCDH11X:NM_001168362:exon1:c.G112T:p.V38F,PCDH11X:NM_001168363:exon1:c.G112T:p.V38F,PCDH11X:NM_032968:exon1:c.G112T:p.V38F,PCDH11X:NM_032969:exon1:c.G112T:p.V38F	.	433	1084	4	1	0	6	0.00275989	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.356	0.112066605475	.	.	6.845e-05	0	0	0	0	0.0001	0	0	7.76e-05	12	154602	rs752539325	8.104e-05	8.104e-05	7.895e-05	8.526e-05	0.0007	6.692e-05	6.217e-05	0.0002	0.0001	0	5.684e-05	0.0002	0	2.467e-05	0.0007	8.669e-05	0.0001	1.847e-05	2.712e-05	3.484e-05	2.572e-05	3.042e-05	0.0004	7.21e-06	3e-06	.	.	0	0	0	0.0004	0	0	0	1.89e-05	0	0.0004	0.011	0.56456	D	0.0	0.92824	D	1.0	0.90584	D	1.0	0.97372	D	0.000001	0.62929	D	0.000000	0.99998	0.54805	D	1.465	0.36909	L	1.64	0.27822	T	-3.09	0.63901	D	0.711	0.75374	-0.7513	0.57867	T	0.177	0.52131	T	10	0.6776366	0.71087	D	0.112067	0.79008	D	0.356	0.67691	0.448	0.50793	0.743348397409	0.74104	0.9391187386239206	0.93892	2.62205694876	0.98273	0.698957324028	0.66994	T	0.131452	0.46095	T	-0.1441	0.29240	T	-0.170466	0.57400	T	0.341553746903787	0.26685	T	0.950405	0.81010	D	0.67736775	0.76827	0.5236375	0.72478	0.67736775	0.76829	0.5236375	0.72479	-7.638	0.58875	D	.	.	0.183	0.39765	B	.;.;.;.;.;.	.;.;.;.;.;.	3.362172	0.46425	22.3	0.99541905764375094	0.70586	0.96640	0.70161	D	AEFGI	.	.	.	.	.	.	.	.	.	0.979235289672574	0.30006	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.93	3.93	0.44666	6.166000	0.71739	6.141000	0.54053	0.509000	0.23192	1.000000	0.71638	1.000000	0.68203	0.991000	0.66497	0.0:0.0:1.0:0.0	14.473	0.67104	974	0.05496	.;Cadherin, 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	0	0	0	0	0.002066	0.000000	0.000000	0.000000	0.000000	0.000000	0.008850	0.005263	0.07895	12155.8	33	chrX	91835616	.	G	T	12155.8	.	AC=3;AF=0.079;AN=38;BaseQRankSum=0.593;DP=1248;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=59.93;MQRankSum=1.99;QD=18.9;ReadPosRankSum=-1.238;SOR=0.733	GT:AD:DP:GQ:PL	1/1:0,206:206:99:6836,618,0	17	1	1	0
chrX	106869505	106869505	A	T	exonic	TBC1D8B	.	stopgain	TBC1D8B:NM_017752:exon19:c.A2833T:p.K945X	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.066	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.284937	0.14876	N	0.635593	1	0.81001	A	.	.	.	.	.	.	.	.	.	0.079	0.05414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.366207	0.87718	D	0.288255	0.87560	D	0.778249050167191	0.44941	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Recessive;.	High;.	7.239318	0.96303	35	0.98290743903168665	0.39945	0.38204	0.25935	N	AEFI	.	.	.	.	.	.	.	.	.	0.762507926143458	0.23534	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7	4.59	0.56297	1.443000	0.34668	6.015000	0.52706	0.756000	0.94297	0.914000	0.31788	1.000000	0.68203	0.963000	0.52385	0.7156:0.2844:0.0:0.0	7.886	0.28814	288	0.88579	.;.	.	.	.	.	.	Uncertain significance	1	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	.	.	.	.	.	.	.	.	0.07895	1985.77	35	chrX	106869505	.	A	T	1985.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=1.4;DP=692;ExcessHet=0;FS=0;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=19.28;ReadPosRankSum=-1.006;SOR=0.782	GT:AD:DP:GQ:PL	1/1:0,38:38:99:1103,114,0	17	1	1	0
chrX	119590450	119590450	G	A	exonic	NKRF	.	unknown	UNKNOWN	.	441	1059	13	9	0	31	0.0144253	.	.	.	743121	not_provided	MedGen:C3661900	criteria_provided,_multiple_submitters,_no_conflicts	Benign	.	.	.	.	.	.	.	.	.	.	0.0008	0.0013245	0.0027	0.0001	0.0001	0.0003	0.0007	0.0028	0.0047	0.0090	0.0024773	383	154602	rs2233498	0.0016	0.0016	0.0014	0.0021	0.0097	0.0015	0.0015	0.0087	0.0085	0.0001	0.0003	0.0003	3.312e-05	0.0005	0.0097	0.0013	0.0018	0.0094	0.0010	0.0010	0.0009	0.0012	0.0068	0.0008	0.0008	0.0044	0.0036	0.0002	0	0.0003	0.0004	0.0003	0.0002	0.0091	0.0015	0.0007	0.0068	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Uncertain significance	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0.010345	0.000000	0.011132	0.011858	0.000000	0.000000	0.004425	0.026316	0.07895	4083.77	34	chrX	119590450	.	G	A	4083.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=3.42;DP=813;ExcessHet=0;FS=1.735;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=18.91;ReadPosRankSum=-0.259;SOR=0.558	GT:AD:DP:GQ:PL	1/1:0,62:62:99:2073,186,0	17	1	1	0
chrX	130012975	130012975	G	A	exonic	BCORL1	.	nonsynonymous SNV	BCORL1:NM_001379450:exon4:c.G203A:p.G68D,BCORL1:NM_001379451:exon4:c.G203A:p.G68D,BCORL1:NM_021946:exon4:c.G203A:p.G68D,BCORL1:NM_001184772:exon5:c.G203A:p.G68D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.155	0.0336169119355	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	1.821e-06	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.004	0.65419	D	0.064	0.44905	T	.	.	.	.	.	.	0.002832	0.35868	N	0.000000	0.584084	0.31075	N	.	.	.	0.48	0.55945	T	-0.38	0.13418	N	0.86	0.87699	-0.7081	0.60046	T	0.151	0.47979	T	10	0.6378375	0.68884	D	0.033617	0.55108	D	0.155	0.40530	0.16	0.06396	0.658802289784	0.65594	0.26988670266984277	0.26901	0.543992118055	0.51468	0.670438170433	0.62901	T	.	.	.	-0.0775579	0.40111	T	-0.349183	0.39300	T	0.576655541672815	0.35490	D	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.335	0.55535	B	.;.	.;.	3.443450	0.47919	22.5	0.99431376210323652	0.64276	0.91846	0.54389	D	AEFDBI	.	.	.	.	.	.	.	.	.	0.998006456015337	0.36301	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.28	5.28	0.74118	4.654000	0.61164	9.860000	0.82050	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.999000	0.91618	0.0837:0.0:0.9163:0.0	11.602	0.50265	428	0.80967	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.07895	3606.77	34	chrX	130012975	.	G	A	3606.77	.	AC=3;AF=0.079;AN=38;BaseQRankSum=-1.654;DP=790;ExcessHet=0;FS=1.856;InbreedingCoeff=0.6381;MLEAC=3;MLEAF=0.079;MQ=60;MQRankSum=0;QD=17.59;ReadPosRankSum=1.03;SOR=0.536	GT:AD:DP:GQ:PL	1/1:0,61:61:99:1816,183,0	17	1	1	0
chrX	135580144	135580144	G	C	exonic	INTS6L	.	nonsynonymous SNV	INTS6L:NM_001351603:exon15:c.G2365C:p.V789L,INTS6L:NM_001351604:exon15:c.G2233C:p.V745L,INTS6L:NM_001351605:exon15:c.G2233C:p.V745L,INTS6L:NM_001351606:exon15:c.G1639C:p.V547L,INTS6L:NM_182540:exon15:c.G2365C:p.V789L,INTS6L:NM_001351601:exon16:c.G2476C:p.V826L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.116	0.320721839563	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	9.106e-07	0	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.082	0.33254	T	0.144	0.33109	T	0.054	0.22658	B	0.016	0.17743	B	0.000000	0.84330	D	0.000000	0.998439	0.44913	D	.	.	.	1.12	0.38718	T	-1.47	0.35991	N	0.585	0.60579	-0.8446	0.52338	T	0.185	0.53376	T	10	0.3336386	0.50551	T	0.320722	0.91466	D	0.116	0.32463	0.358	0.36060	0.707954595072	0.70541	0.7275652152813423	0.72700	1.18866698664	0.80215	0.648726463318	0.59806	T	0.054	0.29627	T	0.00945918	0.52950	T	-0.224189	0.52332	T	0.882806301116943	0.53294	D	0.539346	0.18229	T	0.6511502	0.75426	0.50532985	0.71408	0.6511502	0.75427	0.50532985	0.71409	-8.677	0.65596	D	.	.	0.978	0.90664	P	.;.	.;.	3.376911	0.46690	22.3	0.98498159316290479	0.42180	0.97707	0.76556	D	AEFGBI	.	.	.	.	.	.	.	.	.	0.999999042486774	0.74766	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.88	4.88	0.63131	4.677000	0.61324	5.234000	0.48040	0.676000	0.76740	1.000000	0.71638	1.000000	0.68203	0.998000	0.85391	0.0:0.0:1.0:0.0	16.741	0.85319	91	0.96221	INTS6/SAGE1/DDX26B/CT45, C-terminal;INTS6/SAGE1/DDX26B/CT45, C-terminal	.	.	.	.	.	Uncertain significance	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	0.4474	1139.66	111	chrX	135580144	.	G	C	1139.66	.	AC=17;AF=0.447;AN=38;BaseQRankSum=-0.835;DP=1343;ExcessHet=31.086;FS=227.944;InbreedingCoeff=-0.8004;MLEAC=17;MLEAF=0.447;MQ=60;MQRankSum=0;QD=1.05;ReadPosRankSum=0.257;SOR=12.389	GT:AD:DP:GQ:PL	0/1:28,18:51:50:50,0,341	2	0	17	0
chrX	143628736	143628736	C	G	exonic	SLITRK4	.	nonsynonymous SNV	SLITRK4:NM_001184749:exon2:c.G2373C:p.K791N,SLITRK4:NM_001184750:exon2:c.G2373C:p.K791N,SLITRK4:NM_173078:exon2:c.G2373C:p.K791N	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.111	0.397435481738	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.107e-07	9.105e-07	1.361e-06	0	.	0	0	.	.	0	0	0	0	0	0	0	2.17e-05	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.046	0.40573	D	0.083	0.41405	T	0.457	0.36287	P	0.177	0.35687	B	0.000000	0.84330	U	0.000000	0.999983	0.54805	D	0.895	0.22405	L	0.52	0.55266	T	-1.54	0.37375	N	0.571	0.59393	-0.8979	0.48205	T	0.147	0.47273	T	10	0.50593966	0.61818	D	0.397435	0.93323	D	0.111	0.31313	0.322	0.30226	0.420544483464	0.41669	0.4237341382815121	0.42290	.	.	0.712317109108	0.68930	T	0.064523	0.32457	T	-0.112877	0.34293	T	-0.399916	0.33395	T	0.720364272594452	0.41718	D	0.849315	0.53201	T	0.6638654	0.76105	0.49604106	0.70857	0.6638654	0.76106	0.49604106	0.70857	-4.008	0.23923	T	.	.	0.806	0.77998	P	.;.;.	.;.;.	2.148533	0.27367	17.44	0.99605941636052009	0.74516	0.92437	0.55710	D	AEFBI	.	.	.	.	.	.	.	.	.	0.997243156327411	0.35414	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.39	5.39	0.77615	3.246000	0.51115	4.046000	0.41467	0.599000	0.40250	1.000000	0.71638	1.000000	0.68203	0.992000	0.67800	0.0:1.0:0.0:0.0	16.602	0.84672	987	0.02648	.;.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.05263	2742.81	35	chrX	143628736	.	C	G	2742.81	.	AC=2;AF=0.053;AN=38;DP=711;ExcessHet=0;FS=0;InbreedingCoeff=1;MLEAC=2;MLEAF=0.053;MQ=60;QD=32.27;SOR=0.922	GT:AD:DP:GQ:PL	1/1:0,85:85:99:2770,255,0	18	1	0	0
chrY	9467432	9467432	C	G	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon1:c.C432G:p.H144Q,TSPY1:NM_003308:exon1:c.C432G:p.H144Q,TSPY1:NM_001320964:exon2:c.C171G:p.H57Q	.	1129	390	2	1	0	4	0.00510204	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.073	0.978378320157	.	.	0	.	.	.	.	.	.	.	3.84e-05	1	26028	rs772185599	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0	0.0003	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	0	0.014	0.53172	D	0.013	0.63109	D	0.999	0.77913	D	0.996	0.84481	D	.	.	.	.	.	.	.	2.345	0.67358	M	1.75	0.26152	T	-5.99	0.89401	D	0.225	0.25253	-1.0690	0.09634	T	0.073	0.29515	T	5	0.10270485	0.18840	T	0.978378	0.99882	D	0.073	0.21317	.	.	0.193865811164	0.18958	0.12784609756287668	0.12709	.	.	.	.	.	0.10629	0.41750	T	-0.277042	0.10984	T	-0.635728	0.09984	T	0.880145311355591	0.53014	D	0.480552	0.15143	T	0.5745436	0.71310	0.40950003	0.65237	0.5745436	0.71311	0.40950003	0.65237	-6.135	0.47395	T	.	.	0.639	0.70690	P	.;.	.;.	1.268877	0.16672	12.69	0.83918520770427629	0.14993	0.04546	0.10183	N	AEF	.	.	.	.	.	.	.	.	.	1.09506468559346E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.187000	0.31699	.	.	0.200000	0.17917	0.934000	0.32416	0.000000	0.08366	0.022000	0.11911	.	.	.	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.1	77.64	.	chrY	9467432	.	C	G	77.64	.	AC=2;AF=0.1;AN=20;DP=180;ExcessHet=0;FS=0;InbreedingCoeff=0.6969;MLEAC=2;MLEAF=0.1;MQ=29.01;QD=25.88;SOR=2.833	GT:AD:DP:GQ:PL	1/1:0,3:3:9:93,9,0	9	1	0	9
chrY	9468575	9468575	C	T	exonic	TSPY1	.	nonsynonymous SNV	TSPY1:NM_001197242:exon4:c.C739T:p.R247C,TSPY1:NM_003308:exon4:c.C739T:p.R247C,TSPY1:NM_001320964:exon5:c.C478T:p.R160C	.	1112	376	34	0	0	34	0.043257	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.077	0.942448804252	.	.	.	.	.	.	.	.	.	.	.	.	.	rs1453465763	0	3.698e-05	.	0	.	0	0	.	.	0	0	0	0	0	0	0	0	0	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.071	0.35165	T	0.148	0.47581	T	1.0	0.90584	D	0.986	0.76916	D	.	.	.	.	.	.	.	2.19	0.61577	M	1.41	0.33412	T	-2.46	0.53736	N	0.091	0.06990	-1.0255	0.21919	T	0.095	0.35924	T	5	0.3254106	0.49852	T	0.942449	0.99595	D	0.077	0.22490	.	.	0.0954503805726	0.09146	0.1224262590712214	0.12169	.	.	.	.	.	0.061559	0.31686	T	-0.594515	0.00157	T	-0.799608	0.01912	T	0.297556161880493	0.24903	T	0.954405	0.82627	D	0.1592242	0.35779	0.26193547	0.51978	0.1592242	0.35779	0.26193547	0.51977	-4.639	0.33968	T	.	.	0.217	0.45359	B	.;.	.;.	2.000986	0.25425	16.76	0.99244968679632095	0.56662	0.00250	0.01379	N	AEF	.	.	.	.	.	.	.	.	.	1.14592207977015E-6	0.01202	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.248000	0.08872	.	.	0.200000	0.17917	0.007000	0.17678	0.000000	0.08366	0.017000	0.10941	.	.	.	.	.	.;.	.	.	.	.	.	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	.	.	.	.	.	.	.	.	0.15	226.97	.	chrY	9468575	.	C	T	226.97	.	AC=3;AF=0.15;AN=20;BaseQRankSum=4.17;DP=373;ExcessHet=0.7463;FS=27.454;InbreedingCoeff=-0.1765;MLEAC=5;MLEAF=0.25;MQ=21.97;MQRankSum=-0.786;QD=1.91;ReadPosRankSum=1.05;SOR=4.644	GT:AD:DP:GQ:PL	0/1:39,8:47:59:59,0,817	7	0	3	9